From 5cafb3b871e6ed00e9ae38bb856168836b637cbf Mon Sep 17 00:00:00 2001 From: Nico Matentzoglu Date: Fri, 23 Jun 2023 04:50:18 -0700 Subject: [PATCH] release20230622 --- docs/metrics/doid.md | 2 +- docs/metrics/gard.md | 2 +- docs/metrics/icd10cm.md | 2 +- docs/metrics/icd10who.md | 2 +- docs/metrics/ncit.md | 2 +- docs/metrics/omim.md | 6 +- docs/metrics/ordo.md | 2 +- docs/reports/mapped_deprecated.md | 2 +- docs/reports/mapped_deprecated_ncit.md | 32 +- docs/reports/mapped_deprecated_ordo.md | 465 +-------- docs/reports/migrate.md | 6 +- docs/reports/migrate_doid.md | 167 +-- docs/reports/migrate_ncit.md | 4 +- docs/reports/migrate_omim.md | 63 -- docs/reports/migrate_ordo.md | 111 +- docs/reports/unmapped.md | 4 +- docs/reports/unmapped_omim.md | 1 - docs/reports/unmapped_ordo.md | 17 - src/mappings/gard.sssom.tsv | 2 +- src/mappings/icd10cm.sssom.tsv | 2 +- src/mappings/icd10who.sssom.tsv | 2 +- .../mondo-sources-all-lexical-2.sssom.tsv | 37 +- src/mappings/ncit.sssom.tsv | 2 +- src/mappings/omim.sssom.tsv | 4 + src/ontology/imports/omo_import.owl | 4 +- src/ontology/imports/ro_import.owl | 4 +- src/ontology/lexmatch/README.md | 36 +- .../mondo-only/unmapped_omim_mondo.tsv | 4 +- .../mondo_closematch_gard.tsv | 45 +- .../mondo_closematch_omim.tsv | 2 - .../mondo_exactmatch_gard.tsv | 22 +- .../mondo_exactmatch_omim.tsv | 1 - src/ontology/lexmatch/unmapped_gard_lex.tsv | 4 +- .../lexmatch/unmapped_gard_lex_exact.tsv | 18 +- .../lexmatch/unmapped_omim_lex_exact.tsv | 1 - 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 +- src/ontology/metadata/ncit-metrics.json | 2 +- src/ontology/metadata/omim-metrics.json | 18 +- src/ontology/metadata/ordo-metrics.json | 2 +- .../reports/component_signature-doid.tsv | 95 +- .../doid_exclusion_reasons.robot.template.tsv | 2 + src/ontology/reports/doid_term_exclusions.txt | 2 + .../reports/mirror_signature-doid.tsv | 92 ++ .../reports/mirror_signature-mondo.tsv | 76 ++ ...mapped_deprecated_terms.robot.template.tsv | 30 - src/ontology/reports/ncit_mapping_status.tsv | 64 +- src/ontology/reports/ncit_unmapped_terms.tsv | 1 - src/ontology/reports/omim_mapping_status.tsv | 2 +- src/ontology/reports/omim_unmapped_terms.tsv | 1 - ...mapped_deprecated_terms.robot.template.tsv | 463 +-------- src/ontology/reports/ordo_mapping_status.tsv | 960 +++++++++--------- src/ontology/reports/ordo_unmapped_terms.tsv | 17 - src/ontology/slurp/doid.tsv | 71 +- src/ontology/slurp/ncit.tsv | 2 +- src/ontology/slurp/omim.tsv | 63 -- src/ontology/slurp/ordo.tsv | 71 +- 59 files changed, 1041 insertions(+), 2081 deletions(-) diff --git a/docs/metrics/doid.md b/docs/metrics/doid.md index e97aad55..f7dad761 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/2023-06-18/doid.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2023-06-22/doid.owl ### Entities and axioms diff --git a/docs/metrics/gard.md b/docs/metrics/gard.md index 88f2d8d7..065c7bbf 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/2023-06-18/gard.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2023-06-22/gard.owl ### Entities and axioms diff --git a/docs/metrics/icd10cm.md b/docs/metrics/icd10cm.md index 3c58b27b..902fce47 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/2023-06-18/icd10cm.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2023-06-22/icd10cm.owl ### Entities and axioms diff --git a/docs/metrics/icd10who.md b/docs/metrics/icd10who.md index 8e2e7bac..89b40843 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/2023-06-18/icd10who.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2023-06-22/icd10who.owl ### Entities and axioms diff --git a/docs/metrics/ncit.md b/docs/metrics/ncit.md index b6bb85b5..d8a622a6 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/2023-06-18/ncit.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2023-06-22/ncit.owl ### Entities and axioms diff --git a/docs/metrics/omim.md b/docs/metrics/omim.md index 29538263..30969113 100644 --- a/docs/metrics/omim.md +++ b/docs/metrics/omim.md @@ -2,14 +2,14 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/omim.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2023-06-18/omim.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2023-06-22/omim.owl ### Entities and axioms | Metric | Value | | ------ | ----- | | Annotation properties | 13 | -| Axioms | 371144 | +| Axioms | 347180 | | Logical axioms | 35911 | | Classes | 31395 | | Object properties | 6 | @@ -32,7 +32,7 @@ | Metric | Value | | ------ | ----- | -| AnnotationAssertion | 303823 | +| AnnotationAssertion | 279859 | | Declaration | 31410 | | SubClassOf | 35911 | diff --git a/docs/metrics/ordo.md b/docs/metrics/ordo.md index 2ebb8e03..fe86377e 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/2023-06-18/ordo.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2023-06-22/ordo.owl ### Entities and axioms diff --git a/docs/reports/mapped_deprecated.md b/docs/reports/mapped_deprecated.md index 48281e68..d4f523f6 100644 --- a/docs/reports/mapped_deprecated.md +++ b/docs/reports/mapped_deprecated.md @@ -2,11 +2,11 @@ | Ontology | Tot deprecated in Mondo | |:--------------------------------------------|--------------------------:| | [OMIM](./mapped_deprecated_omim.md) | 44 | -| [DOID](./mapped_deprecated_doid.md) | 4 | | [NCIT](./mapped_deprecated_ncit.md) | 3 | | [ORDO](./mapped_deprecated_ordo.md) | 113 | | [ICD10WHO](./mapped_deprecated_icd10who.md) | 0 | | [ICD10CM](./mapped_deprecated_icd10cm.md) | 0 | +| [DOID](./mapped_deprecated_doid.md) | 0 | | [GARD](./mapped_deprecated_gard.md) | 0 | `Ontology`: Name of ontology diff --git a/docs/reports/mapped_deprecated_ncit.md b/docs/reports/mapped_deprecated_ncit.md index e4ab8b90..49676299 100644 --- a/docs/reports/mapped_deprecated_ncit.md +++ b/docs/reports/mapped_deprecated_ncit.md @@ -5,36 +5,6 @@ | mondo_id | source_id | source | |:--------------|:---------------------|:-------------------------| | ID | A oboInOwl:hasDbXref | >A oboInOwl:source | -| MONDO:0002063 | NCIT:C6977 | MONDO:equivalentObsolete | -| MONDO:0002274 | NCIT:C35878 | MONDO:equivalentObsolete | -| MONDO:0002388 | NCIT:C4191 | MONDO:equivalentObsolete | -| MONDO:0002598 | NCIT:C3753 | MONDO:equivalentObsolete | -| MONDO:0002812 | NCIT:C27339 | MONDO:equivalentObsolete | -| MONDO:0002813 | NCIT:C4501 | MONDO:equivalentObsolete | -| MONDO:0003002 | NCIT:C2996 | MONDO:equivalentObsolete | -| MONDO:0003333 | NCIT:C40012 | MONDO:equivalentObsolete | -| MONDO:0003430 | NCIT:C7910 | MONDO:equivalentObsolete | -| MONDO:0003495 | NCIT:C40092 | MONDO:equivalentObsolete | -| MONDO:0003603 | NCIT:C4009 | MONDO:equivalentObsolete | -| MONDO:0003604 | NCIT:C7047 | MONDO:equivalentObsolete | -| MONDO:0003681 | NCIT:C4303 | MONDO:equivalentObsolete | -| MONDO:0003723 | NCIT:C6941 | MONDO:equivalentObsolete | -| MONDO:0003899 | NCIT:C27378 | MONDO:equivalentObsolete | -| MONDO:0003937 | NCIT:C116779 | MONDO:equivalentObsolete | | MONDO:0003998 | NCIT:C40257 | MONDO:equivalentObsolete | -| MONDO:0004212 | NCIT:C40288 | MONDO:equivalentObsolete | -| MONDO:0004259 | NCIT:C28327 | MONDO:equivalentObsolete | -| MONDO:0004538 | NCIT:C40202 | MONDO:equivalentObsolete | -| MONDO:0005103 | NCIT:C4250 | MONDO:equivalentObsolete | -| MONDO:0006096 | NCIT:C4654 | MONDO:equivalentObsolete | -| MONDO:0006890 | NCIT:C3916 | MONDO:equivalentObsolete | -| MONDO:0008189 | NCIT:C4383 | MONDO:equivalentObsolete | -| MONDO:0009279 | NCIT:C131005 | MONDO:equivalentObsolete | | MONDO:0017308 | NCIT:C75007 | MONDO:equivalentObsolete | -| MONDO:0019611 | NCIT:C8011 | MONDO:equivalentObsolete | -| MONDO:0019927 | NCIT:C7911 | MONDO:equivalentObsolete | -| MONDO:0020720 | NCIT:C123265 | MONDO:equivalentObsolete | -| MONDO:0020842 | NCIT:C8998 | MONDO:equivalentObsolete | -| MONDO:0024888 | NCIT:C4295 | MONDO:equivalentObsolete | -| MONDO:0024889 | NCIT:C4294 | MONDO:equivalentObsolete | -| MONDO:0045058 | NCIT:C7909 | MONDO:equivalentObsolete | \ No newline at end of file +| MONDO:0020842 | NCIT:C8998 | MONDO:equivalentObsolete | \ No newline at end of file diff --git a/docs/reports/mapped_deprecated_ordo.md b/docs/reports/mapped_deprecated_ordo.md index 594e7a4e..5c0176c9 100644 --- a/docs/reports/mapped_deprecated_ordo.md +++ b/docs/reports/mapped_deprecated_ordo.md @@ -5,481 +5,68 @@ | mondo_id | source_id | source | |:--------------|:---------------------|:-------------------------| | ID | A oboInOwl:hasDbXref | >A oboInOwl:source | -| MONDO:0000229 | Orphanet:101335 | MONDO:equivalentObsolete | -| MONDO:0000481 | Orphanet:93962 | MONDO:equivalentObsolete | -| MONDO:0000485 | Orphanet:93961 | MONDO:equivalentObsolete | -| MONDO:0000499 | Orphanet:415300 | MONDO:equivalentObsolete | -| MONDO:0000704 | Orphanet:65279 | MONDO:equivalentObsolete | -| MONDO:0000724 | Orphanet:458713 | MONDO:equivalentObsolete | -| MONDO:0000816 | Orphanet:411969 | MONDO:equivalentObsolete | -| MONDO:0000820 | Orphanet:164 | MONDO:equivalentObsolete | -| MONDO:0001071 | Orphanet:319658 | MONDO:equivalentObsolete | -| MONDO:0001134 | Orphanet:243761 | MONDO:equivalentObsolete | -| MONDO:0001147 | Orphanet:93968 | MONDO:equivalentObsolete | -| MONDO:0001153 | Orphanet:459690 | MONDO:equivalentObsolete | -| MONDO:0001187 | Orphanet:157980 | MONDO:equivalentObsolete | -| MONDO:0001341 | Orphanet:69127 | MONDO:equivalentObsolete | | MONDO:0001807 | Orphanet:79211 | MONDO:equivalentObsolete | -| MONDO:0002070 | Orphanet:1480 | MONDO:equivalentObsolete | -| MONDO:0002235 | Orphanet:98580 | MONDO:equivalentObsolete | -| MONDO:0002305 | Orphanet:64738 | MONDO:equivalentObsolete | -| MONDO:0002470 | Orphanet:453 | MONDO:equivalentObsolete | -| MONDO:0003233 | Orphanet:862 | MONDO:equivalentObsolete | -| MONDO:0003924 | Orphanet:99888 | MONDO:equivalentObsolete | -| MONDO:0004277 | Orphanet:100642 | MONDO:equivalentObsolete | -| MONDO:0004975 | Orphanet:238616 | MONDO:equivalentObsolete | -| MONDO:0005011 | Orphanet:206 | MONDO:equivalentObsolete | -| MONDO:0005036 | Orphanet:464463 | MONDO:equivalentObsolete | -| MONDO:0005061 | Orphanet:415268 | MONDO:equivalentObsolete | -| MONDO:0005090 | Orphanet:3140 | MONDO:equivalentObsolete | -| MONDO:0005101 | Orphanet:771 | MONDO:equivalentObsolete | -| MONDO:0005105 | Orphanet:411533 | MONDO:equivalentObsolete | -| MONDO:0005130 | Orphanet:555 | MONDO:equivalentObsolete | -| MONDO:0005147 | Orphanet:243377 | MONDO:equivalentObsolete | -| MONDO:0005150 | Orphanet:279 | MONDO:equivalentObsolete | -| MONDO:0005180 | Orphanet:319705 | MONDO:equivalentObsolete | -| MONDO:0005233 | Orphanet:488201 | MONDO:equivalentObsolete | -| MONDO:0005258 | Orphanet:106 | MONDO:equivalentObsolete | -| MONDO:0005259 | Orphanet:1162 | MONDO:equivalentObsolete | -| MONDO:0005301 | Orphanet:802 | MONDO:equivalentObsolete | -| MONDO:0005306 | Orphanet:825 | MONDO:equivalentObsolete | -| MONDO:0005342 | Orphanet:34145 | MONDO:equivalentObsolete | -| MONDO:0005345 | Orphanet:440 | MONDO:equivalentObsolete | -| MONDO:0005349 | Orphanet:2794 | MONDO:equivalentObsolete | -| MONDO:0005351 | Orphanet:36297 | MONDO:equivalentObsolete | -| MONDO:0005361 | Orphanet:73247 | MONDO:equivalentObsolete | -| MONDO:0005382 | Orphanet:280110 | MONDO:equivalentObsolete | -| MONDO:0005387 | Orphanet:619 | MONDO:equivalentObsolete | -| MONDO:0005404 | Orphanet:1983 | MONDO:equivalentObsolete | -| MONDO:0005486 | Orphanet:2227 | MONDO:equivalentObsolete | -| MONDO:0005488 | Orphanet:3153 | MONDO:equivalentObsolete | -| MONDO:0005546 | Orphanet:41842 | MONDO:equivalentObsolete | -| MONDO:0005575 | Orphanet:466667 | MONDO:equivalentObsolete | -| MONDO:0005665 | Orphanet:2810 | MONDO:equivalentObsolete | -| MONDO:0005712 | Orphanet:651 | MONDO:equivalentObsolete | -| MONDO:0005805 | Orphanet:430 | MONDO:equivalentObsolete | -| MONDO:0005904 | Orphanet:58208 | MONDO:equivalentObsolete | -| MONDO:0006065 | Orphanet:319681 | MONDO:equivalentObsolete | -| MONDO:0006460 | Orphanet:489 | MONDO:equivalentObsolete | -| MONDO:0006559 | Orphanet:387 | MONDO:equivalentObsolete | -| MONDO:0006761 | Orphanet:336 | MONDO:equivalentObsolete | -| MONDO:0006802 | Orphanet:83449 | MONDO:equivalentObsolete | -| MONDO:0007020 | Orphanet:97354 | MONDO:equivalentObsolete | -| MONDO:0007035 | Orphanet:924 | MONDO:equivalentObsolete | -| MONDO:0007040 | Orphanet:3128 | MONDO:equivalentObsolete | -| MONDO:0007051 | Orphanet:965 | MONDO:equivalentObsolete | -| MONDO:0007133 | Orphanet:2355 | MONDO:equivalentObsolete | -| MONDO:0007178 | Orphanet:1219 | MONDO:equivalentObsolete | -| MONDO:0007180 | Orphanet:1831 | MONDO:equivalentObsolete | -| MONDO:0007217 | Orphanet:93393 | MONDO:equivalentObsolete | -| MONDO:0007222 | Orphanet:93385 | MONDO:equivalentObsolete | -| MONDO:0007275 | Orphanet:50838 | MONDO:equivalentObsolete | -| MONDO:0007393 | Orphanet:1339 | MONDO:equivalentObsolete | -| MONDO:0007465 | Orphanet:1683 | MONDO:equivalentObsolete | -| MONDO:0007476 | Orphanet:79142 | MONDO:equivalentObsolete | -| MONDO:0007488 | Orphanet:1648 | MONDO:equivalentObsolete | -| MONDO:0007508 | Orphanet:3022 | MONDO:equivalentObsolete | -| MONDO:0007513 | Orphanet:3391 | MONDO:equivalentObsolete | -| MONDO:0007516 | Orphanet:1888 | MONDO:equivalentObsolete | -| MONDO:0007517 | Orphanet:1889 | MONDO:equivalentObsolete | -| MONDO:0007661 | Orphanet:856 | MONDO:equivalentObsolete | -| MONDO:0007699 | Orphanet:855 | MONDO:equivalentObsolete | -| MONDO:0007709 | Orphanet:97562 | MONDO:equivalentObsolete | -| MONDO:0007724 | Orphanet:2156 | MONDO:equivalentObsolete | -| MONDO:0007741 | Orphanet:2190 | MONDO:equivalentObsolete | -| MONDO:0007745 | Orphanet:357 | MONDO:equivalentObsolete | -| MONDO:0007761 | Orphanet:413 | MONDO:equivalentObsolete | -| MONDO:0007779 | Orphanet:306588 | MONDO:equivalentObsolete | -| MONDO:0007809 | Orphanet:79504 | MONDO:equivalentObsolete | -| MONDO:0007810 | Orphanet:462 | MONDO:equivalentObsolete | -| MONDO:0007811 | Orphanet:2267 | MONDO:equivalentObsolete | -| MONDO:0007899 | Orphanet:33409 | MONDO:equivalentObsolete | -| MONDO:0007972 | Orphanet:45360 | MONDO:equivalentObsolete | -| MONDO:0008225 | Orphanet:680 | MONDO:equivalentObsolete | -| MONDO:0008228 | Orphanet:120 | MONDO:equivalentObsolete | -| MONDO:0008231 | Orphanet:2870 | MONDO:equivalentObsolete | -| MONDO:0008327 | Orphanet:529819 | MONDO:equivalentObsolete | -| MONDO:0008383 | Orphanet:284130 | MONDO:equivalentObsolete | -| MONDO:0008410 | Orphanet:3135 | MONDO:equivalentObsolete | -| MONDO:0008487 | Orphanet:3185 | MONDO:equivalentObsolete | -| MONDO:0008490 | Orphanet:3450 | MONDO:equivalentObsolete | -| MONDO:0008523 | Orphanet:90341 | MONDO:equivalentObsolete | -| MONDO:0008672 | Orphanet:3444 | MONDO:equivalentObsolete | -| MONDO:0008685 | Orphanet:907 | MONDO:equivalentObsolete | -| MONDO:0008771 | Orphanet:171836 | MONDO:equivalentObsolete | -| MONDO:0008885 | Orphanet:157788 | MONDO:equivalentObsolete | -| MONDO:0009043 | Orphanet:3221 | MONDO:equivalentObsolete | -| MONDO:0009056 | Orphanet:1557 | MONDO:equivalentObsolete | -| MONDO:0009128 | Orphanet:2650 | MONDO:equivalentObsolete | -| MONDO:0009148 | Orphanet:90339 | MONDO:equivalentObsolete | -| MONDO:0009151 | Orphanet:320317 | MONDO:equivalentObsolete | -| MONDO:0009180 | Orphanet:89840 | MONDO:equivalentObsolete | -| MONDO:0009243 | Orphanet:2051 | MONDO:equivalentObsolete | | MONDO:0009317 | Orphanet:1245 | MONDO:equivalentObsolete | -| MONDO:0009351 | Orphanet:2168 | MONDO:equivalentObsolete | -| MONDO:0009366 | Orphanet:314928 | MONDO:equivalentObsolete | -| MONDO:0009436 | Orphanet:2113 | MONDO:equivalentObsolete | -| MONDO:0009484 | Orphanet:98861 | MONDO:equivalentObsolete | -| MONDO:0009519 | Orphanet:99870 | MONDO:equivalentObsolete | -| MONDO:0009554 | Orphanet:2453 | MONDO:equivalentObsolete | -| MONDO:0009601 | Orphanet:1838 | MONDO:equivalentObsolete | -| MONDO:0009617 | Orphanet:52183 | MONDO:equivalentObsolete | -| MONDO:0009726 | Orphanet:2615 | MONDO:equivalentObsolete | -| MONDO:0009726 | Orphanet:324999 | MONDO:equivalentObsolete | -| MONDO:0009726 | Orphanet:325004 | MONDO:equivalentObsolete | -| MONDO:0009755 | Orphanet:625 | MONDO:equivalentObsolete | -| MONDO:0009761 | Orphanet:79486 | MONDO:equivalentObsolete | -| MONDO:0009770 | Orphanet:2506 | MONDO:equivalentObsolete | -| MONDO:0009781 | Orphanet:2739 | MONDO:equivalentObsolete | -| MONDO:0009927 | Orphanet:2998 | MONDO:equivalentObsolete | -| MONDO:0009969 | Orphanet:1092 | MONDO:equivalentObsolete | -| MONDO:0010030 | Orphanet:378 | MONDO:equivalentObsolete | | MONDO:0010045 | Orphanet:2823 | MONDO:equivalentObsolete | -| MONDO:0010070 | Orphanet:93301 | MONDO:equivalentObsolete | -| MONDO:0010074 | Orphanet:93303 | MONDO:equivalentObsolete | -| MONDO:0010098 | Orphanet:3289 | MONDO:equivalentObsolete | -| MONDO:0010150 | Orphanet:67037 | MONDO:equivalentObsolete | -| MONDO:0010207 | Orphanet:1409 | MONDO:equivalentObsolete | -| MONDO:0010222 | Orphanet:306597 | MONDO:equivalentObsolete | -| MONDO:0010265 | Orphanet:79022 | MONDO:equivalentObsolete | -| MONDO:0010302 | Orphanet:435 | MONDO:equivalentObsolete | -| MONDO:0010407 | Orphanet:3056 | MONDO:equivalentObsolete | -| MONDO:0010407 | Orphanet:85328 | MONDO:equivalentObsolete | -| MONDO:0010564 | Orphanet:319698 | MONDO:equivalentObsolete | -| MONDO:0010565 | Orphanet:319691 | MONDO:equivalentObsolete | -| MONDO:0010573 | Orphanet:79482 | MONDO:equivalentObsolete | -| MONDO:0010576 | Orphanet:383 | MONDO:equivalentObsolete | -| MONDO:0010663 | Orphanet:73220 | MONDO:equivalentObsolete | -| MONDO:0010663 | Orphanet:93971 | MONDO:equivalentObsolete | -| MONDO:0010663 | Orphanet:93973 | MONDO:equivalentObsolete | -| MONDO:0010663 | Orphanet:93974 | MONDO:equivalentObsolete | -| MONDO:0010798 | Orphanet:3390 | MONDO:equivalentObsolete | -| MONDO:0010799 | Orphanet:168609 | MONDO:equivalentObsolete | -| MONDO:0010896 | Orphanet:26823 | MONDO:equivalentObsolete | -| MONDO:0010962 | Orphanet:496 | MONDO:equivalentObsolete | -| MONDO:0010971 | Orphanet:1849 | MONDO:equivalentObsolete | | MONDO:0010994 | Orphanet:2641 | MONDO:equivalentObsolete | -| MONDO:0011064 | Orphanet:1421 | MONDO:equivalentObsolete | -| MONDO:0011110 | Orphanet:1804 | MONDO:equivalentObsolete | -| MONDO:0011122 | Orphanet:521399 | MONDO:equivalentObsolete | -| MONDO:0011125 | Orphanet:670 | MONDO:equivalentObsolete | -| MONDO:0011182 | Orphanet:35056 | MONDO:equivalentObsolete | -| MONDO:0011303 | Orphanet:93213 | MONDO:equivalentObsolete | -| MONDO:0011362 | Orphanet:34521 | MONDO:equivalentObsolete | -| MONDO:0011431 | Orphanet:99715 | MONDO:equivalentObsolete | -| MONDO:0011688 | Orphanet:52428 | MONDO:equivalentObsolete | -| MONDO:0011694 | Orphanet:98770 | MONDO:equivalentObsolete | -| MONDO:0011798 | Orphanet:157855 | MONDO:equivalentObsolete | -| MONDO:0011827 | Orphanet:706 | MONDO:equivalentObsolete | -| MONDO:0011844 | Orphanet:210566 | MONDO:equivalentObsolete | -| MONDO:0011849 | Orphanet:40050 | MONDO:equivalentObsolete | -| MONDO:0011869 | Orphanet:89839 | MONDO:equivalentObsolete | | MONDO:0011910 | Orphanet:265 | MONDO:equivalentObsolete | -| MONDO:0011939 | Orphanet:50816 | MONDO:equivalentObsolete | -| MONDO:0012049 | Orphanet:90649 | MONDO:equivalentObsolete | -| MONDO:0012138 | Orphanet:98894 | MONDO:equivalentObsolete | -| MONDO:0012212 | Orphanet:97295 | MONDO:equivalentObsolete | -| MONDO:0012438 | Orphanet:166068 | MONDO:equivalentObsolete | -| MONDO:0012503 | Orphanet:3315 | MONDO:equivalentObsolete | -| MONDO:0013040 | Orphanet:93576 | MONDO:equivalentObsolete | -| MONDO:0013041 | Orphanet:93580 | MONDO:equivalentObsolete | -| MONDO:0013042 | Orphanet:93578 | MONDO:equivalentObsolete | -| MONDO:0013043 | Orphanet:93575 | MONDO:equivalentObsolete | -| MONDO:0013044 | Orphanet:217023 | MONDO:equivalentObsolete | -| MONDO:0013209 | Orphanet:33271 | MONDO:equivalentObsolete | -| MONDO:0013214 | Orphanet:449262 | MONDO:equivalentObsolete | -| MONDO:0013225 | Orphanet:228429 | MONDO:equivalentObsolete | -| MONDO:0013461 | Orphanet:319684 | MONDO:equivalentObsolete | -| MONDO:0013560 | Orphanet:231537 | MONDO:equivalentObsolete | -| MONDO:0013577 | Orphanet:77243 | MONDO:equivalentObsolete | -| MONDO:0013598 | Orphanet:275534 | MONDO:equivalentObsolete | -| MONDO:0013606 | Orphanet:280663 | MONDO:equivalentObsolete | -| MONDO:0013621 | Orphanet:306507 | MONDO:equivalentObsolete | -| MONDO:0013662 | Orphanet:1232 | MONDO:equivalentObsolete | -| MONDO:0014201 | Orphanet:369894 | MONDO:equivalentObsolete | -| MONDO:0014249 | Orphanet:50920 | MONDO:equivalentObsolete | -| MONDO:0014448 | Orphanet:276271 | MONDO:equivalentObsolete | -| MONDO:0015083 | Orphanet:100932 | MONDO:equivalentObsolete | -| MONDO:0015091 | Orphanet:100990 | MONDO:equivalentObsolete | -| MONDO:0015095 | Orphanet:101033 | MONDO:equivalentObsolete | -| MONDO:0015102 | Orphanet:101106 | MONDO:equivalentObsolete | | MONDO:0015120 | Orphanet:101949 | MONDO:equivalentObsolete | | MONDO:0015163 | Orphanet:102373 | MONDO:equivalentObsolete | | MONDO:0015172 | Orphanet:103912 | MONDO:equivalentObsolete | | MONDO:0015173 | Orphanet:103916 | MONDO:equivalentObsolete | -| MONDO:0015174 | Orphanet:103917 | MONDO:equivalentObsolete | -| MONDO:0015217 | Orphanet:108985 | MONDO:equivalentObsolete | | MONDO:0015218 | Orphanet:108987 | MONDO:equivalentObsolete | -| MONDO:0015255 | Orphanet:1256 | MONDO:equivalentObsolete | -| MONDO:0015256 | Orphanet:1258 | MONDO:equivalentObsolete | -| MONDO:0015257 | Orphanet:1260 | MONDO:equivalentObsolete | -| MONDO:0015288 | Orphanet:137586 | MONDO:equivalentObsolete | | MONDO:0015297 | Orphanet:137653 | MONDO:equivalentObsolete | -| MONDO:0015308 | Orphanet:137871 | MONDO:equivalentObsolete | -| MONDO:0015358 | Orphanet:140450 | MONDO:equivalentObsolete | -| MONDO:0015398 | Orphanet:141136 | MONDO:equivalentObsolete | -| MONDO:0015424 | Orphanet:1420 | MONDO:equivalentObsolete | -| MONDO:0015429 | Orphanet:1434 | MONDO:equivalentObsolete | -| MONDO:0015468 | Orphanet:1530 | MONDO:equivalentObsolete | -| MONDO:0015474 | Orphanet:1549 | MONDO:equivalentObsolete | -| MONDO:0015486 | Orphanet:2335 | MONDO:equivalentObsolete | -| MONDO:0015493 | Orphanet:156156 | MONDO:equivalentObsolete | | MONDO:0015551 | Orphanet:158665 | MONDO:equivalentObsolete | -| MONDO:0015559 | Orphanet:158793 | MONDO:equivalentObsolete | | MONDO:0015560 | Orphanet:158796 | MONDO:equivalentObsolete | -| MONDO:0015569 | Orphanet:162521 | MONDO:equivalentObsolete | -| MONDO:0015589 | Orphanet:163895 | MONDO:equivalentObsolete | -| MONDO:0015593 | Orphanet:163914 | MONDO:equivalentObsolete | | MONDO:0015594 | Orphanet:163918 | MONDO:equivalentObsolete | | MONDO:0015602 | Orphanet:163988 | MONDO:equivalentObsolete | -| MONDO:0015732 | Orphanet:171208 | MONDO:equivalentObsolete | -| MONDO:0015742 | Orphanet:171676 | MONDO:equivalentObsolete | -| MONDO:0015752 | Orphanet:171860 | MONDO:equivalentObsolete | -| MONDO:0015838 | Orphanet:180118 | MONDO:equivalentObsolete | -| MONDO:0015874 | Orphanet:180284 | MONDO:equivalentObsolete | -| MONDO:0015902 | Orphanet:181425 | MONDO:equivalentObsolete | -| MONDO:0015907 | Orphanet:1819 | MONDO:equivalentObsolete | -| MONDO:0015912 | Orphanet:1019 | MONDO:equivalentObsolete | -| MONDO:0015912 | Orphanet:1984 | MONDO:equivalentObsolete | -| MONDO:0015912 | Orphanet:807 | MONDO:equivalentObsolete | -| MONDO:0015912 | Orphanet:850 | MONDO:equivalentObsolete | | MONDO:0015919 | Orphanet:182073 | MONDO:equivalentObsolete | | MONDO:0015920 | Orphanet:182076 | MONDO:equivalentObsolete | | MONDO:0015937 | Orphanet:182214 | MONDO:equivalentObsolete | | MONDO:0015964 | Orphanet:183598 | MONDO:equivalentObsolete | | MONDO:0015965 | Orphanet:183601 | MONDO:equivalentObsolete | -| MONDO:0015985 | Orphanet:1844 | MONDO:equivalentObsolete | -| MONDO:0015994 | Orphanet:1877 | MONDO:equivalentObsolete | -| MONDO:0016024 | Orphanet:1940 | MONDO:equivalentObsolete | -| MONDO:0016028 | Orphanet:1956 | MONDO:equivalentObsolete | | MONDO:0016082 | Orphanet:2042 | MONDO:equivalentObsolete | | MONDO:0016111 | Orphanet:206659 | MONDO:equivalentObsolete | | MONDO:0016124 | Orphanet:206985 | MONDO:equivalentObsolete | -| MONDO:0016161 | Orphanet:2081 | MONDO:equivalentObsolete | -| MONDO:0016271 | Orphanet:213741 | MONDO:equivalentObsolete | -| MONDO:0016297 | Orphanet:216445 | MONDO:equivalentObsolete | -| MONDO:0016298 | Orphanet:216452 | MONDO:equivalentObsolete | -| MONDO:0016373 | Orphanet:221106 | MONDO:equivalentObsolete | -| MONDO:0016377 | Orphanet:221150 | MONDO:equivalentObsolete | -| MONDO:0016420 | Orphanet:227786 | MONDO:equivalentObsolete | -| MONDO:0016451 | Orphanet:228315 | MONDO:equivalentObsolete | -| MONDO:0016452 | Orphanet:228318 | MONDO:equivalentObsolete | -| MONDO:0016469 | Orphanet:230845 | MONDO:equivalentObsolete | -| MONDO:0016560 | Orphanet:238766 | MONDO:equivalentObsolete | -| MONDO:0016572 | Orphanet:2431 | MONDO:equivalentObsolete | -| MONDO:0016583 | Orphanet:2454 | MONDO:equivalentObsolete | -| MONDO:0016615 | Orphanet:247839 | MONDO:equivalentObsolete | -| MONDO:0016617 | Orphanet:247854 | MONDO:equivalentObsolete | | MONDO:0016626 | Orphanet:248305 | MONDO:equivalentObsolete | -| MONDO:0016697 | Orphanet:251633 | MONDO:equivalentObsolete | | MONDO:0016795 | Orphanet:254793 | MONDO:equivalentObsolete | -| MONDO:0016827 | Orphanet:2601 | MONDO:equivalentObsolete | -| MONDO:0016857 | Orphanet:261559 | MONDO:equivalentObsolete | -| MONDO:0016858 | Orphanet:261572 | MONDO:equivalentObsolete | -| MONDO:0016859 | Orphanet:261579 | MONDO:equivalentObsolete | -| MONDO:0016980 | Orphanet:263355 | MONDO:equivalentObsolete | -| MONDO:0016983 | Orphanet:263417 | MONDO:equivalentObsolete | | MONDO:0016997 | Orphanet:263676 | MONDO:equivalentObsolete | -| MONDO:0017025 | Orphanet:264724 | MONDO:equivalentObsolete | -| MONDO:0017029 | Orphanet:264750 | MONDO:equivalentObsolete | -| MONDO:0017036 | Orphanet:264955 | MONDO:equivalentObsolete | -| MONDO:0017045 | Orphanet:2676 | MONDO:equivalentObsolete | -| MONDO:0017046 | Orphanet:2677 | MONDO:equivalentObsolete | -| MONDO:0017106 | Orphanet:269200 | MONDO:equivalentObsolete | -| MONDO:0017126 | Orphanet:2716 | MONDO:equivalentObsolete | -| MONDO:0017191 | Orphanet:276624 | MONDO:equivalentObsolete | -| MONDO:0017192 | Orphanet:276627 | MONDO:equivalentObsolete | -| MONDO:0017236 | Orphanet:280569 | MONDO:equivalentObsolete | -| MONDO:0017294 | Orphanet:284408 | MONDO:equivalentObsolete | -| MONDO:0017336 | Orphanet:289527 | MONDO:equivalentObsolete | | MONDO:0017378 | Orphanet:2925 | MONDO:equivalentObsolete | -| MONDO:0017399 | Orphanet:293848 | MONDO:equivalentObsolete | -| MONDO:0017413 | Orphanet:294049 | MONDO:equivalentObsolete | -| MONDO:0017421 | Orphanet:294929 | MONDO:equivalentObsolete | -| MONDO:0017422 | Orphanet:294931 | MONDO:equivalentObsolete | -| MONDO:0017423 | Orphanet:294935 | MONDO:equivalentObsolete | -| MONDO:0017424 | Orphanet:294937 | MONDO:equivalentObsolete | -| MONDO:0017425 | Orphanet:294939 | MONDO:equivalentObsolete | -| MONDO:0017426 | Orphanet:294942 | MONDO:equivalentObsolete | -| MONDO:0017448 | Orphanet:294990 | MONDO:equivalentObsolete | -| MONDO:0017449 | Orphanet:294992 | MONDO:equivalentObsolete | -| MONDO:0017450 | Orphanet:294994 | MONDO:equivalentObsolete | -| MONDO:0017451 | Orphanet:294996 | MONDO:equivalentObsolete | -| MONDO:0017452 | Orphanet:294998 | MONDO:equivalentObsolete | -| MONDO:0017457 | Orphanet:295006 | MONDO:equivalentObsolete | | MONDO:0017458 | Orphanet:295008 | MONDO:equivalentObsolete | | MONDO:0017459 | Orphanet:295010 | MONDO:equivalentObsolete | -| MONDO:0017472 | Orphanet:295038 | MONDO:equivalentObsolete | -| MONDO:0017473 | Orphanet:295041 | MONDO:equivalentObsolete | -| MONDO:0017478 | Orphanet:295053 | MONDO:equivalentObsolete | -| MONDO:0017479 | Orphanet:295055 | MONDO:equivalentObsolete | -| MONDO:0017480 | Orphanet:295057 | MONDO:equivalentObsolete | -| MONDO:0017481 | Orphanet:295059 | MONDO:equivalentObsolete | -| MONDO:0017482 | Orphanet:295061 | MONDO:equivalentObsolete | -| MONDO:0017483 | Orphanet:295063 | MONDO:equivalentObsolete | -| MONDO:0017484 | Orphanet:295065 | MONDO:equivalentObsolete | -| MONDO:0017485 | Orphanet:295067 | MONDO:equivalentObsolete | -| MONDO:0017486 | Orphanet:295069 | MONDO:equivalentObsolete | -| MONDO:0017487 | Orphanet:295071 | MONDO:equivalentObsolete | -| MONDO:0017488 | Orphanet:295073 | MONDO:equivalentObsolete | -| MONDO:0017489 | Orphanet:295075 | MONDO:equivalentObsolete | -| MONDO:0017490 | Orphanet:295077 | MONDO:equivalentObsolete | -| MONDO:0017491 | Orphanet:295079 | MONDO:equivalentObsolete | -| MONDO:0017492 | Orphanet:295081 | MONDO:equivalentObsolete | -| MONDO:0017493 | Orphanet:295083 | MONDO:equivalentObsolete | | MONDO:0017494 | Orphanet:295085 | MONDO:equivalentObsolete | | MONDO:0017495 | Orphanet:295087 | MONDO:equivalentObsolete | -| MONDO:0017496 | Orphanet:295089 | MONDO:equivalentObsolete | -| MONDO:0017497 | Orphanet:295091 | MONDO:equivalentObsolete | -| MONDO:0017498 | Orphanet:295093 | MONDO:equivalentObsolete | -| MONDO:0017499 | Orphanet:295095 | MONDO:equivalentObsolete | -| MONDO:0017500 | Orphanet:295097 | MONDO:equivalentObsolete | -| MONDO:0017501 | Orphanet:295099 | MONDO:equivalentObsolete | -| MONDO:0017502 | Orphanet:295101 | MONDO:equivalentObsolete | -| MONDO:0017503 | Orphanet:295103 | MONDO:equivalentObsolete | -| MONDO:0017504 | Orphanet:295105 | MONDO:equivalentObsolete | -| MONDO:0017505 | Orphanet:295107 | MONDO:equivalentObsolete | -| MONDO:0017506 | Orphanet:295110 | MONDO:equivalentObsolete | -| MONDO:0017507 | Orphanet:295112 | MONDO:equivalentObsolete | -| MONDO:0017508 | Orphanet:295114 | MONDO:equivalentObsolete | -| MONDO:0017509 | Orphanet:295116 | MONDO:equivalentObsolete | -| MONDO:0017510 | Orphanet:295118 | MONDO:equivalentObsolete | -| MONDO:0017511 | Orphanet:295120 | MONDO:equivalentObsolete | -| MONDO:0017512 | Orphanet:295122 | MONDO:equivalentObsolete | -| MONDO:0017513 | Orphanet:295124 | MONDO:equivalentObsolete | -| MONDO:0017514 | Orphanet:295126 | MONDO:equivalentObsolete | -| MONDO:0017515 | Orphanet:295128 | MONDO:equivalentObsolete | -| MONDO:0017516 | Orphanet:295130 | MONDO:equivalentObsolete | -| MONDO:0017517 | Orphanet:295132 | MONDO:equivalentObsolete | -| MONDO:0017518 | Orphanet:295134 | MONDO:equivalentObsolete | -| MONDO:0017519 | Orphanet:295136 | MONDO:equivalentObsolete | -| MONDO:0017520 | Orphanet:295138 | MONDO:equivalentObsolete | -| MONDO:0017521 | Orphanet:295140 | MONDO:equivalentObsolete | -| MONDO:0017522 | Orphanet:295142 | MONDO:equivalentObsolete | -| MONDO:0017523 | Orphanet:295144 | MONDO:equivalentObsolete | -| MONDO:0017524 | Orphanet:295146 | MONDO:equivalentObsolete | -| MONDO:0017525 | Orphanet:295148 | MONDO:equivalentObsolete | -| MONDO:0017526 | Orphanet:295150 | MONDO:equivalentObsolete | -| MONDO:0017527 | Orphanet:295152 | MONDO:equivalentObsolete | -| MONDO:0017528 | Orphanet:295154 | MONDO:equivalentObsolete | -| MONDO:0017529 | Orphanet:295159 | MONDO:equivalentObsolete | -| MONDO:0017530 | Orphanet:295161 | MONDO:equivalentObsolete | -| MONDO:0017531 | Orphanet:295163 | MONDO:equivalentObsolete | -| MONDO:0017532 | Orphanet:295165 | MONDO:equivalentObsolete | -| MONDO:0017533 | Orphanet:295167 | MONDO:equivalentObsolete | -| MONDO:0017534 | Orphanet:295169 | MONDO:equivalentObsolete | -| MONDO:0017535 | Orphanet:295171 | MONDO:equivalentObsolete | -| MONDO:0017536 | Orphanet:295173 | MONDO:equivalentObsolete | -| MONDO:0017537 | Orphanet:295175 | MONDO:equivalentObsolete | -| MONDO:0017538 | Orphanet:295177 | MONDO:equivalentObsolete | | MONDO:0017539 | Orphanet:295179 | MONDO:equivalentObsolete | | MONDO:0017540 | Orphanet:295181 | MONDO:equivalentObsolete | | MONDO:0017541 | Orphanet:295183 | MONDO:equivalentObsolete | | MONDO:0017542 | Orphanet:295185 | MONDO:equivalentObsolete | -| MONDO:0017548 | Orphanet:295205 | MONDO:equivalentObsolete | -| MONDO:0017549 | Orphanet:295207 | MONDO:equivalentObsolete | -| MONDO:0017550 | Orphanet:295209 | MONDO:equivalentObsolete | -| MONDO:0017551 | Orphanet:295211 | MONDO:equivalentObsolete | -| MONDO:0017556 | Orphanet:295221 | MONDO:equivalentObsolete | -| MONDO:0017557 | Orphanet:295223 | MONDO:equivalentObsolete | -| MONDO:0017562 | Orphanet:295234 | MONDO:equivalentObsolete | -| MONDO:0017563 | Orphanet:295237 | MONDO:equivalentObsolete | -| MONDO:0017616 | Orphanet:3062 | MONDO:equivalentObsolete | -| MONDO:0017642 | Orphanet:3067 | MONDO:equivalentObsolete | | MONDO:0017655 | Orphanet:306762 | MONDO:equivalentObsolete | -| MONDO:0017770 | Orphanet:3105 | MONDO:equivalentObsolete | -| MONDO:0017832 | Orphanet:314946 | MONDO:equivalentObsolete | -| MONDO:0017887 | Orphanet:319314 | MONDO:equivalentObsolete | | MONDO:0017984 | Orphanet:3267 | MONDO:equivalentObsolete | | MONDO:0017996 | Orphanet:329255 | MONDO:equivalentObsolete | -| MONDO:0018070 | Orphanet:338 | MONDO:equivalentObsolete | | MONDO:0018104 | Orphanet:3460 | MONDO:equivalentObsolete | -| MONDO:0018107 | Orphanet:35061 | MONDO:equivalentObsolete | -| MONDO:0018110 | Orphanet:35064 | MONDO:equivalentObsolete | -| MONDO:0018111 | Orphanet:35065 | MONDO:equivalentObsolete | -| MONDO:0018122 | Orphanet:352487 | MONDO:equivalentObsolete | | MONDO:0018138 | Orphanet:352740 | MONDO:equivalentObsolete | -| MONDO:0018154 | Orphanet:35688 | MONDO:equivalentObsolete | -| MONDO:0018267 | Orphanet:370114 | MONDO:equivalentObsolete | | MONDO:0018285 | Orphanet:371054 | MONDO:equivalentObsolete | | MONDO:0018286 | Orphanet:371064 | MONDO:equivalentObsolete | -| MONDO:0018420 | Orphanet:401825 | MONDO:equivalentObsolete | -| MONDO:0018491 | Orphanet:422519 | MONDO:equivalentObsolete | -| MONDO:0018503 | Orphanet:423781 | MONDO:equivalentObsolete | -| MONDO:0018563 | Orphanet:435623 | MONDO:equivalentObsolete | -| MONDO:0018665 | Orphanet:448348 | MONDO:equivalentObsolete | -| MONDO:0018708 | Orphanet:457252 | MONDO:equivalentObsolete | | MONDO:0018722 | Orphanet:458841 | MONDO:equivalentObsolete | -| MONDO:0018962 | Orphanet:620 | MONDO:equivalentObsolete | -| MONDO:0018989 | Orphanet:64740 | MONDO:equivalentObsolete | -| MONDO:0019103 | Orphanet:71269 | MONDO:equivalentObsolete | | MONDO:0019116 | Orphanet:717 | MONDO:equivalentObsolete | -| MONDO:0019172 | Orphanet:77 | MONDO:equivalentObsolete | -| MONDO:0019206 | Orphanet:79132 | MONDO:equivalentObsolete | -| MONDO:0019297 | Orphanet:79383 | MONDO:equivalentObsolete | | MONDO:0019348 | Orphanet:82004 | MONDO:equivalentObsolete | | MONDO:0019389 | Orphanet:83648 | MONDO:equivalentObsolete | -| MONDO:0019397 | Orphanet:84096 | MONDO:equivalentObsolete | -| MONDO:0019401 | Orphanet:84271 | MONDO:equivalentObsolete | | MONDO:0019410 | Orphanet:85196 | MONDO:equivalentObsolete | -| MONDO:0019417 | Orphanet:85318 | MONDO:equivalentObsolete | -| MONDO:0019426 | Orphanet:85330 | MONDO:equivalentObsolete | -| MONDO:0019520 | Orphanet:89832 | MONDO:equivalentObsolete | -| MONDO:0019563 | Orphanet:90290 | MONDO:equivalentObsolete | -| MONDO:0019649 | Orphanet:93206 | MONDO:equivalentObsolete | -| MONDO:0019650 | Orphanet:93207 | MONDO:equivalentObsolete | -| MONDO:0019651 | Orphanet:93209 | MONDO:equivalentObsolete | -| MONDO:0019652 | Orphanet:93214 | MONDO:equivalentObsolete | -| MONDO:0019653 | Orphanet:93216 | MONDO:equivalentObsolete | -| MONDO:0019654 | Orphanet:93217 | MONDO:equivalentObsolete | -| MONDO:0019655 | Orphanet:93218 | MONDO:equivalentObsolete | -| MONDO:0019656 | Orphanet:93220 | MONDO:equivalentObsolete | | MONDO:0019657 | Orphanet:93221 | MONDO:equivalentObsolete | | MONDO:0019658 | Orphanet:93222 | MONDO:equivalentObsolete | -| MONDO:0019723 | Orphanet:93550 | MONDO:equivalentObsolete | -| MONDO:0019724 | Orphanet:93551 | MONDO:equivalentObsolete | -| MONDO:0019738 | Orphanet:93579 | MONDO:equivalentObsolete | -| MONDO:0019752 | Orphanet:93682 | MONDO:equivalentObsolete | -| MONDO:0019760 | Orphanet:93937 | MONDO:equivalentObsolete | -| MONDO:0019765 | Orphanet:93942 | MONDO:equivalentObsolete | -| MONDO:0019770 | Orphanet:93951 | MONDO:equivalentObsolete | | MONDO:0019774 | Orphanet:93970 | MONDO:equivalentObsolete | | MONDO:0019776 | Orphanet:93972 | MONDO:equivalentObsolete | | MONDO:0019779 | Orphanet:93975 | MONDO:equivalentObsolete | -| MONDO:0019809 | Orphanet:95449 | MONDO:equivalentObsolete | -| MONDO:0019821 | Orphanet:95484 | MONDO:equivalentObsolete | -| MONDO:0019826 | Orphanet:95493 | MONDO:equivalentObsolete | | MONDO:0019847 | Orphanet:95701 | MONDO:equivalentObsolete | | MONDO:0019894 | Orphanet:96136 | MONDO:equivalentObsolete | | MONDO:0019899 | Orphanet:96152 | MONDO:equivalentObsolete | -| MONDO:0019940 | Orphanet:966 | MONDO:equivalentObsolete | -| MONDO:0019946 | Orphanet:97231 | MONDO:equivalentObsolete | -| MONDO:0019986 | Orphanet:97555 | MONDO:equivalentObsolete | | MONDO:0019987 | Orphanet:97556 | MONDO:equivalentObsolete | -| MONDO:0019995 | Orphanet:97927 | MONDO:equivalentObsolete | | MONDO:0020092 | Orphanet:98345 | MONDO:equivalentObsolete | -| MONDO:0020119 | Orphanet:98464 | MONDO:equivalentObsolete | -| MONDO:0020134 | Orphanet:98520 | MONDO:equivalentObsolete | -| MONDO:0020146 | Orphanet:98554 | MONDO:equivalentObsolete | | MONDO:0020149 | Orphanet:98558 | MONDO:equivalentObsolete | | MONDO:0020150 | Orphanet:98559 | MONDO:equivalentObsolete | -| MONDO:0020160 | Orphanet:98569 | MONDO:equivalentObsolete | -| MONDO:0020163 | Orphanet:98572 | MONDO:equivalentObsolete | -| MONDO:0020164 | Orphanet:98573 | MONDO:equivalentObsolete | | MONDO:0020168 | Orphanet:98577 | MONDO:equivalentObsolete | | MONDO:0020170 | Orphanet:98579 | MONDO:equivalentObsolete | -| MONDO:0020172 | Orphanet:98581 | MONDO:equivalentObsolete | -| MONDO:0020173 | Orphanet:98582 | MONDO:equivalentObsolete | -| MONDO:0020174 | Orphanet:98583 | MONDO:equivalentObsolete | -| MONDO:0020175 | Orphanet:98584 | MONDO:equivalentObsolete | -| MONDO:0020176 | Orphanet:98585 | MONDO:equivalentObsolete | -| MONDO:0020177 | Orphanet:98586 | MONDO:equivalentObsolete | -| MONDO:0020178 | Orphanet:98587 | MONDO:equivalentObsolete | -| MONDO:0020179 | Orphanet:98588 | MONDO:equivalentObsolete | -| MONDO:0020180 | Orphanet:98590 | MONDO:equivalentObsolete | -| MONDO:0020181 | Orphanet:98591 | MONDO:equivalentObsolete | | MONDO:0020182 | Orphanet:98592 | MONDO:equivalentObsolete | -| MONDO:0020183 | Orphanet:98593 | MONDO:equivalentObsolete | | MONDO:0020185 | Orphanet:98595 | MONDO:equivalentObsolete | | MONDO:0020186 | Orphanet:98596 | MONDO:equivalentObsolete | | MONDO:0020187 | Orphanet:98597 | MONDO:equivalentObsolete | @@ -487,15 +74,10 @@ | MONDO:0020189 | Orphanet:98599 | MONDO:equivalentObsolete | | MONDO:0020190 | Orphanet:98600 | MONDO:equivalentObsolete | | MONDO:0020191 | Orphanet:98601 | MONDO:equivalentObsolete | -| MONDO:0020193 | Orphanet:98603 | MONDO:equivalentObsolete | -| MONDO:0020196 | Orphanet:98608 | MONDO:equivalentObsolete | | MONDO:0020199 | Orphanet:98611 | MONDO:equivalentObsolete | | MONDO:0020200 | Orphanet:98612 | MONDO:equivalentObsolete | | MONDO:0020201 | Orphanet:98613 | MONDO:equivalentObsolete | | MONDO:0020202 | Orphanet:98614 | MONDO:equivalentObsolete | -| MONDO:0020203 | Orphanet:98615 | MONDO:equivalentObsolete | -| MONDO:0020204 | Orphanet:98616 | MONDO:equivalentObsolete | -| MONDO:0020205 | Orphanet:98617 | MONDO:equivalentObsolete | | MONDO:0020208 | Orphanet:98620 | MONDO:equivalentObsolete | | MONDO:0020217 | Orphanet:98632 | MONDO:equivalentObsolete | | MONDO:0020218 | Orphanet:98633 | MONDO:equivalentObsolete | @@ -504,13 +86,10 @@ | MONDO:0020227 | Orphanet:98643 | MONDO:equivalentObsolete | | MONDO:0020229 | Orphanet:98645 | MONDO:equivalentObsolete | | MONDO:0020231 | Orphanet:98647 | MONDO:equivalentObsolete | -| MONDO:0020238 | Orphanet:98657 | MONDO:equivalentObsolete | | MONDO:0020241 | Orphanet:98662 | MONDO:equivalentObsolete | -| MONDO:0020242 | Orphanet:98664 | MONDO:equivalentObsolete | | MONDO:0020243 | Orphanet:98665 | MONDO:equivalentObsolete | | MONDO:0020244 | Orphanet:98666 | MONDO:equivalentObsolete | -| MONDO:0020247 | Orphanet:98669 | MONDO:equivalentObsolete | -| MONDO:0020252 | Orphanet:98682 | MONDO:equivalentObsolete | +| MONDO:0020245 | Orphanet:98667 | MONDO:equivalentObsolete | | MONDO:0020259 | Orphanet:98689 | MONDO:equivalentObsolete | | MONDO:0020260 | Orphanet:98690 | MONDO:equivalentObsolete | | MONDO:0020261 | Orphanet:98691 | MONDO:equivalentObsolete | @@ -532,50 +111,10 @@ | MONDO:0020280 | Orphanet:98712 | MONDO:equivalentObsolete | | MONDO:0020281 | Orphanet:98713 | MONDO:equivalentObsolete | | MONDO:0020282 | Orphanet:98714 | MONDO:equivalentObsolete | -| MONDO:0020322 | Orphanet:98837 | MONDO:equivalentObsolete | -| MONDO:0020353 | Orphanet:98941 | MONDO:equivalentObsolete | -| MONDO:0020384 | Orphanet:99022 | MONDO:equivalentObsolete | -| MONDO:0020406 | Orphanet:99066 | MONDO:equivalentObsolete | -| MONDO:0020421 | Orphanet:99085 | MONDO:equivalentObsolete | -| MONDO:0020422 | Orphanet:99086 | MONDO:equivalentObsolete | -| MONDO:0020424 | Orphanet:99088 | MONDO:equivalentObsolete | -| MONDO:0020439 | Orphanet:99108 | MONDO:equivalentObsolete | -| MONDO:0020473 | Orphanet:99645 | MONDO:equivalentObsolete | -| MONDO:0020477 | Orphanet:99706 | MONDO:equivalentObsolete | -| MONDO:0020489 | Orphanet:99763 | MONDO:equivalentObsolete | -| MONDO:0020517 | Orphanet:99871 | MONDO:equivalentObsolete | -| MONDO:0020518 | Orphanet:99872 | MONDO:equivalentObsolete | -| MONDO:0020519 | Orphanet:99873 | MONDO:equivalentObsolete | -| MONDO:0020520 | Orphanet:99874 | MONDO:equivalentObsolete | -| MONDO:0020521 | Orphanet:99875 | MONDO:equivalentObsolete | -| MONDO:0020522 | Orphanet:99876 | MONDO:equivalentObsolete | -| MONDO:0020523 | Orphanet:99877 | MONDO:equivalentObsolete | -| MONDO:0020524 | Orphanet:99878 | MONDO:equivalentObsolete | -| MONDO:0020531 | Orphanet:99900 | MONDO:equivalentObsolete | | MONDO:0020742 | Orphanet:1317 | MONDO:equivalentObsolete | | MONDO:0020871 | Orphanet:623 | MONDO:equivalentObsolete | -| MONDO:0021001 | Orphanet:139498 | MONDO:equivalentObsolete | | MONDO:0021062 | Orphanet:306539 | MONDO:equivalentObsolete | -| MONDO:0021228 | Orphanet:36414 | MONDO:equivalentObsolete | -| MONDO:0021569 | Orphanet:264 | MONDO:equivalentObsolete | -| MONDO:0022316 | Orphanet:1408 | MONDO:equivalentObsolete | -| MONDO:0022414 | Orphanet:1526 | MONDO:equivalentObsolete | | MONDO:0022921 | Orphanet:2861 | MONDO:equivalentObsolete | | MONDO:0023072 | Orphanet:1939 | MONDO:equivalentObsolete | -| MONDO:0023204 | Orphanet:2060 | MONDO:equivalentObsolete | -| MONDO:0023243 | Orphanet:1535 | MONDO:equivalentObsolete | -| MONDO:0023540 | Orphanet:1137 | MONDO:equivalentObsolete | -| MONDO:0024418 | Orphanet:2033 | MONDO:equivalentObsolete | -| MONDO:0024573 | Orphanet:155 | MONDO:equivalentObsolete | -| MONDO:0040671 | Orphanet:362 | MONDO:equivalentObsolete | -| MONDO:0041052 | Orphanet:466673 | MONDO:equivalentObsolete | | MONDO:0043007 | Orphanet:330197 | MONDO:equivalentObsolete | -| MONDO:0043096 | Orphanet:2161 | MONDO:equivalentObsolete | -| MONDO:0043108 | Orphanet:1575 | MONDO:equivalentObsolete | -| MONDO:0043537 | Orphanet:1002 | MONDO:equivalentObsolete | -| MONDO:0044631 | Orphanet:494348 | MONDO:equivalentObsolete | -| MONDO:0044683 | Orphanet:498700 | MONDO:equivalentObsolete | -| MONDO:0100076 | Orphanet:459696 | MONDO:equivalentObsolete | -| MONDO:0100161 | Orphanet:89939 | MONDO:equivalentObsolete | -| MONDO:0100300 | Orphanet:464293 | MONDO:equivalentObsolete | -| MONDO:0100428 | Orphanet:56965 | MONDO:equivalentObsolete | \ No newline at end of file +| MONDO:0044683 | Orphanet:498700 | MONDO:equivalentObsolete | \ No newline at end of file diff --git a/docs/reports/migrate.md b/docs/reports/migrate.md index b1603924..55279796 100644 --- a/docs/reports/migrate.md +++ b/docs/reports/migrate.md @@ -2,11 +2,11 @@ | Ontology | Tot | |:----------------------------------|:------| | [GARD](./migrate_gard.md) | 9,370 | -| [ORDO](./migrate_ordo.md) | 70 | +| [OMIM](./migrate_omim.md) | 65 | +| [DOID](./migrate_doid.md) | 49 | +| [ORDO](./migrate_ordo.md) | 35 | | [NCIT](./migrate_ncit.md) | 2,113 | -| [OMIM](./migrate_omim.md) | 128 | | [ICD10WHO](./migrate_icd10who.md) | 119 | -| [DOID](./migrate_doid.md) | 112 | | [ICD10CM](./migrate_icd10cm.md) | 1,888 | ### Codebook diff --git a/docs/reports/migrate_doid.md b/docs/reports/migrate_doid.md index fe3f3e42..5aa88e19 100644 --- a/docs/reports/migrate_doid.md +++ b/docs/reports/migrate_doid.md @@ -2,118 +2,55 @@ [Interactive FlatGithub table](https://flatgithub.com/monarch-initiative/mondo-ingest?filename=src/ontology/slurp/doid.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:0956962 | benign teratoma | DOID:0080602 | MONDO:equivalentTo | benign teratoma | A germ cell benign neoplasm that derives_from mature tissue elements or a limited amount of immature tissue elements. | MONDO:0850144 | -| MONDO:0956964 | medulloblastoma shh activated and tp53 mutant | DOID:0080704 | MONDO:equivalentTo | medulloblastoma SHH activated and TP53 mutant | A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the presence of TP53 mutations. | MONDO:0850197 | -| MONDO:0956965 | medulloblastoma shh activated and tp53 wild-type | DOID:0080705 | MONDO:equivalentTo | medulloblastoma SHH activated and TP53 wild-type | A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the absence of TP53 mutations. | MONDO:0850197 | -| MONDO:0956966 | medulloblastoma non-wnt/non-shh group 3 | DOID:0080707 | MONDO:equivalentTo | medulloblastoma non-WNT/non-SHH group 3 | A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by absent TP53 mutations and MYC amplifications that may be present. | MONDO:0850198 | -| MONDO:0956967 | medulloblastoma non-wnt/non-shh group 4 | DOID:0080708 | MONDO:equivalentTo | medulloblastoma non-WNT/non-SHH group 4 | A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by the absence of MYC amplifications and TP53 mutations and chromosome 17 abnormalities that may be present. | MONDO:0850198 | -| MONDO:0956968 | gene duplication disease | DOID:0080712 | MONDO:equivalentTo | gene duplication disease | A monogenic disease that is the result of a mutation that involves the production of one or more copies of a gene. | MONDO:0000275 | -| MONDO:0956969 | chronic inducible urticaria | DOID:0080748 | MONDO:equivalentTo | chronic inducible urticaria | A chronic urticaria that is characterized by a history of a consistent stimulus that initiates lesions, which are typically short-lived and fleeting, lasting a few minutes up to 2 hours. | MONDO:0850230 | -| MONDO:0956970 | chronic spontaneous urticaria | DOID:0080749 | MONDO:equivalentTo | chronic spontaneous urticaria | A chronic urticaria that is characterized by urticaria independent of any exogenous stimulus. | MONDO:0850230 | -| MONDO:0956971 | intermittent asthma | DOID:0080812 | MONDO:equivalentTo | intermittent asthma | A chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control two or fewer days per week and no interference with normal activity. | MONDO:0850282 | -| MONDO:0956972 | persistent mild asthma | DOID:0080813 | MONDO:equivalentTo | persistent mild asthma | A chronic asthma that is characterized by severity with symptoms two or more days per week, nighttime awakenings three to four times per month, use of short-acting beta agonist for symptom control two or more days per week and minor limitation of normal activity. | MONDO:0850282 | -| MONDO:0956973 | persistent moderate asthma | DOID:0080814 | MONDO:equivalentTo | persistent moderate asthma | A chronic asthma that is characterized by severity with daily symptoms, nighttime awakenings more than once per week, daily use of short-acting beta agonist for symptom control and some limitation of normal activity. | MONDO:0850282 | -| MONDO:0956974 | adult-onset severe asthma | DOID:0080816 | MONDO:equivalentTo | adult-onset severe asthma | A chronic asthma that is characterized by first presentation in adulthood. | MONDO:0850282 | -| MONDO:0956975 | t2-high asthma | DOID:0080817 | MONDO:equivalentTo | T2-high asthma | A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of early-onset allergic asthma, late-onset eosinophilic asthma, and aspirin-exacerbated respiratory disease. | MONDO:0850282 | -| MONDO:0956976 | t2-low asthma | DOID:0080818 | MONDO:equivalentTo | T2-low asthma | A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of non-atopic, smoking, obesity related, and elderly and that is characterized by neutrophilic (sputum neutrophils > 40–60%) or paucigranulocytic (i.e., normal sputum levels of both eosinophils and neutrophils) inflammation and a lack of response to corticosteroid therapy. | MONDO:0850282 | -| MONDO:0956977 | near-fatal asthma | DOID:0080823 | MONDO:equivalentTo | near-fatal asthma | An acute asthma that is characterized by a respiratory arrest or arterial carbon dioxide tension greater than 50 mmHg, with or without altered consciousness, requiring mechanical ventilation. | MONDO:0850283 | -| MONDO:0956978 | persistent severe asthma | DOID:0080824 | MONDO:equivalentTo | persistent severe asthma | A chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control several times per day and extremely limited normal activity. | MONDO:0850282 | -| MONDO:0956979 | nocturnal asthma | DOID:0080826 | MONDO:equivalentTo | nocturnal asthma | A chronic asthma that is characterized by significant decline in pulmonary function and increase of airway inflammation at night. During sleep, recumbent posture causes a reduction in the lung volumes, respiratory muscle tone, and lung compliance. The overnight physiological abnormalities include: increased airway inflammation and decreased steroid responsiveness, increased pulmonary capillary blood volume, functional differences in blood/air volume ratios and mechanical coupling of the parenchyma to the airways. | MONDO:0850282 | -| MONDO:0956980 | vascular parkinsonism | DOID:0080856 | MONDO:equivalentTo | vascular Parkinsonism | A Parkinsonism that is characterized by postural instability, a broad-based gait with the absence of tremors of vascular origin. | MONDO:0021095 | -| MONDO:0956981 | astrocytoma, idh-mutant, grade 4 | DOID:0080877 | MONDO:equivalentTo | astrocytoma, IDH-mutant, grade 4 | An IDH-mutant anaplastic astrocytoma that is characterized by the presence of necrosis and/or microvascular proliferation or homozygous deletion of CDKN2A and/or CDKN2B genes. The term glioblastoma no longer applies to central nervous system WHO grade 4 IDH-mutant astrocytomas. | MONDO:0850332 | -| MONDO:0956983 | pleomorphic xanthoastrocytoma braf mutant | DOID:0080881 | MONDO:equivalentTo | pleomorphic xanthoastrocytoma BRAF mutant | An anaplastic pleomorphic xanthoastrocytoma that has_material_basis_in BRAF mutations. | MONDO:0850312 | -| MONDO:0956984 | yap1-mamld1 fusion-positive supratentorial ependymoma | DOID:0080891 | MONDO:equivalentTo | YAP1-MAMLD1 fusion-positive supratentorial ependymoma | A supratentorial ependymoma that has_material_basis_in YAP1-MAMLD1 fusion. | MONDO:0850340 | -| MONDO:0956985 | lipofibromatosis-like neural tumor | DOID:0080894 | MONDO:equivalentTo | lipofibromatosis-like neural tumor | A connective tissue cancer that has_material_basis_in LMNA-NTRK1 gene fusion. | MONDO:0002176 | -| MONDO:0956986 | solitary fibrous tumor/hemangiopericytoma | DOID:0080897 | MONDO:equivalentTo | solitary fibrous tumor/hemangiopericytoma | A connective tissue cancer that is characterized as the combination of solitary fibrous tumors and hemangiopericytomas. | MONDO:0002176 | -| MONDO:0956987 | ezb-myc+ diffuse large b-cell lymphoma | DOID:0081070 | MONDO:equivalentTo | EZB-MYC+ diffuse large B-cell lymphoma | An EZB diffuse large B-cell lymphoma that expresses the double hit gene expression signature (DHITsig+) according to gene expression profiling. In addition to the features characteristic of EZB, these cases commonly, but do not always, harbour MYC translocations and DDX3X mutations. | MONDO:0850469 | -| MONDO:0956988 | ezb-myc- diffuse large b-cell lymphoma | DOID:0081071 | MONDO:equivalentTo | EZB-MYC- diffuse large B-cell lymphoma | An EZB diffuse large B-cell lymphoma that does not express the double hit gene expression signature (DHITsig-) according to gene expression profiling. These cases tend to have few MYC translocations or DDX3X mutations. | MONDO:0850469 | -| MONDO:0956989 | cic-rearranged sarcoma | DOID:0081250 | MONDO:equivalentTo | CIC-rearranged sarcoma | An EWSERI-negative small round cell tumor that is characterized by a recurrent translocation involving the CIC gene on chromosome 19 and either DUX4 gene on chromosome 4 or DUX4L gene on chromosome 10. The translocation results in either CIC-DUX4, t(4;19)(q35;q13) or CIC-DUX4L, t(10;19)(q26;q13) fusions. | MONDO:0858921 | -| MONDO:0956990 | supratentorial ependymoma, zfta fusion–positive | DOID:0081252 | MONDO:equivalentTo | supratentorial ependymoma, ZFTA fusion–positive | A suptratentorial ependymoma that is characterized by the presence of a fusion gene involving ZFTA gene. | MONDO:0850340 | -| MONDO:0956991 | supratentorial ependymoma, yap1 fusion–positive | DOID:0081253 | MONDO:equivalentTo | supratentorial ependymoma, YAP1 fusion–positive | A supratentorial ependymoma that is characterized by the presence of a fusion gene involving YAP1 gene. | MONDO:0850340 | -| MONDO:0956992 | posterior fossa group a ependymoma | DOID:0081254 | MONDO:equivalentTo | posterior fossa group A ependymoma | A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns, including CpG island hypermethylation, global DNA hypomethylation, reduction of nuclear H3 p.K28me3 (K27me3) expression, and EZHIP overexpression. | MONDO:0850339 | -| MONDO:0956993 | posterior fossa group b ependymoma | DOID:0081255 | MONDO:equivalentTo | posterior fossa group B ependymoma | A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns including retention of nuclear H3 p.K28me3 (K27me3) expression, absence of CpG island hypermethylation, absence of global DNA hypomethylation, and absence of EZHIP overexpression. | MONDO:0850339 | -| MONDO:0956994 | astrocytoma, idh-mutant, grade 2 | DOID:0081256 | MONDO:equivalentTo | astrocytoma, IDH-mutant, grade 2 | An IDH-mutant anaplastic astrocytoma that is characterized by the presence of well-differentiated fibrillary glial cells diffusely infiltrating the central nervous system. | MONDO:0850332 | -| MONDO:0956995 | astrocytoma, idh-mutant, grade 3 | DOID:0081257 | MONDO:equivalentTo | astrocytoma, IDH-mutant, grade 3 | An IDH-mutant anaplastic astrocytoma that is characterized by the presence of increased mitotic activity and anaplastic features. | MONDO:0850332 | -| MONDO:0956996 | oligodendroglioma, idh-mutant and 1p/19q-codeleted grade 2 | DOID:0081281 | MONDO:equivalentTo | oligodendroglioma, IDH-mutant and 1p/19q-codeleted grade 2 | An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as a well differentiated tumor lacking anaplastic features (brisk mitotic activity, microvascular proliferation, necrosis). | MONDO:0859592 | -| MONDO:0956997 | oligodendroglioma, idh-mutant and 1p/19q-codeleted, grade 3 | DOID:0081282 | MONDO:equivalentTo | oligodendroglioma, IDH-mutant and 1p/19q-codeleted, grade 3 | An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as grade 3 tumors associated with a more rapid growth. Grade 3 tumors appear to have abnormalities on chromosomes 9 or 10, along with unusual amounts of growth factors and proteins, which are thought to contribute to the more rapid growth of these gliomas. | MONDO:0859592 | -| MONDO:0957117 | bradyopsia 1 | DOID:0070363 | MONDO:equivalentTo | bradyopsia 1 | | MONDO:0012033 | -| MONDO:0957118 | bradyopsia 2 | DOID:0070364 | MONDO:equivalentTo | bradyopsia 2 | | MONDO:0012033 | -| MONDO:0957119 | nevoid basal cell carcinoma syndrome 1 | DOID:0070365 | MONDO:equivalentTo | nevoid basal cell carcinoma syndrome 1 | | MONDO:0007187|MONDO:0000426 | -| MONDO:0957120 | nevoid basal cell carcinoma syndrome 2 | DOID:0070366 | MONDO:equivalentTo | nevoid basal cell carcinoma syndrome 2 | | MONDO:0007187 | -| MONDO:0957121 | leukoencephalopathy with vanishing white matter 5 | DOID:0070367 | MONDO:equivalentTo | leukoencephalopathy with vanishing white matter 5 | | MONDO:0011380 | -| MONDO:0957122 | leukoencephalopathy with vanishing white matter 4 | DOID:0070371 | MONDO:equivalentTo | leukoencephalopathy with vanishing white matter 4 | | MONDO:0011380 | -| MONDO:0957123 | leukoencephalopathy with vanishing white matter 3 | DOID:0070372 | MONDO:equivalentTo | leukoencephalopathy with vanishing white matter 3 | | MONDO:0011380 | -| MONDO:0957124 | leukoencephalopathy with vanishing white matter 2 | DOID:0070373 | MONDO:equivalentTo | leukoencephalopathy with vanishing white matter 2 | | MONDO:0011380 | -| MONDO:0957125 | leukoencephalopathy with vanishing white matter 1 | DOID:0070374 | MONDO:equivalentTo | leukoencephalopathy with vanishing white matter 1 | | MONDO:0011380 | -| MONDO:0957126 | developmental and epileptic encephalopathy 64 | DOID:0070375 | MONDO:equivalentTo | developmental and epileptic encephalopathy 64 | | MONDO:0100062|MONDO:0000426 | -| MONDO:0957127 | developmental and epileptic encephalopathy 31b | DOID:0070376 | MONDO:equivalentTo | developmental and epileptic encephalopathy 31B | | MONDO:0100062|MONDO:0006025 | -| MONDO:0957128 | developmental and epileptic encephalopathy 96 | DOID:0070377 | MONDO:equivalentTo | developmental and epileptic encephalopathy 96 | | MONDO:0100062|MONDO:0000426 | -| MONDO:0957129 | developmental and epileptic encephalopathy 109 | DOID:0070378 | MONDO:equivalentTo | developmental and epileptic encephalopathy 109 | | MONDO:0100062|MONDO:0000426 | -| MONDO:0957130 | developmental and epileptic encephalopathy 6b | DOID:0070379 | MONDO:equivalentTo | developmental and epileptic encephalopathy 6B | | MONDO:0100062|MONDO:0000426 | -| MONDO:0957131 | developmental and epileptic encephalopathy 85 | DOID:0070380 | MONDO:equivalentTo | developmental and epileptic encephalopathy 85 | | MONDO:0100062|MONDO:0020604 | -| MONDO:0957132 | developmental and epileptic encephalopathy 90 | DOID:0070381 | MONDO:equivalentTo | developmental and epileptic encephalopathy 90 | | MONDO:0100062|MONDO:0000425 | -| MONDO:0957133 | developmental and epileptic encephalopathy 95 | DOID:0070382 | MONDO:equivalentTo | developmental and epileptic encephalopathy 95 | | MONDO:0100062|MONDO:0006025 | -| MONDO:0957134 | developmental and epileptic encephalopathy 97 | DOID:0070383 | MONDO:equivalentTo | developmental and epileptic encephalopathy 97 | | MONDO:0100062|MONDO:0000426 | -| MONDO:0957135 | developmental and epileptic encephalopathy 98 | DOID:0070384 | MONDO:equivalentTo | developmental and epileptic encephalopathy 98 | | MONDO:0100062|MONDO:0000426 | -| MONDO:0957136 | developmental and epileptic encephalopathy 99 | DOID:0070385 | MONDO:equivalentTo | developmental and epileptic encephalopathy 99 | | MONDO:0100062|MONDO:0000426 | -| MONDO:0957137 | developmental and epileptic encephalopathy 100 | DOID:0070386 | MONDO:equivalentTo | developmental and epileptic encephalopathy 100 | | MONDO:0100062|MONDO:0000426 | -| MONDO:0957138 | developmental and epileptic encephalopathy 101 | DOID:0070387 | MONDO:equivalentTo | developmental and epileptic encephalopathy 101 | | MONDO:0100062|MONDO:0006025 | -| MONDO:0957139 | developmental and epileptic encephalopathy 102 | DOID:0070388 | MONDO:equivalentTo | developmental and epileptic encephalopathy 102 | | MONDO:0100062|MONDO:0006025 | -| MONDO:0957140 | developmental and epileptic encephalopathy 103 | DOID:0070389 | MONDO:equivalentTo | developmental and epileptic encephalopathy 103 | | MONDO:0100062|MONDO:0000426 | -| MONDO:0957141 | developmental and epileptic encephalopathy 104 | DOID:0070390 | MONDO:equivalentTo | developmental and epileptic encephalopathy 104 | | MONDO:0100062|MONDO:0000426 | -| MONDO:0957142 | developmental and epileptic encephalopathy 105 | DOID:0070391 | MONDO:equivalentTo | developmental and epileptic encephalopathy 105 | | MONDO:0100062|MONDO:0006025 | -| MONDO:0957143 | developmental and epileptic encephalopathy 106 | DOID:0070392 | MONDO:equivalentTo | developmental and epileptic encephalopathy 106 | | MONDO:0100062|MONDO:0006025 | -| MONDO:0957144 | developmental and epileptic encephalopathy 107 | DOID:0070393 | MONDO:equivalentTo | developmental and epileptic encephalopathy 107 | | MONDO:0100062|MONDO:0006025 | -| MONDO:0957145 | developmental and epileptic encephalopathy 108 | DOID:0070394 | MONDO:equivalentTo | developmental and epileptic encephalopathy 108 | | MONDO:0100062|MONDO:0000426 | -| MONDO:0957146 | developmental and epileptic encephalopathy 110 | DOID:0070395 | MONDO:equivalentTo | developmental and epileptic encephalopathy 110 | | MONDO:0100062|MONDO:0006025 | -| MONDO:0957147 | hypomyelinating leukodystrophy 23 | DOID:0070397 | MONDO:equivalentTo | hypomyelinating leukodystrophy 23 | | MONDO:0019046|MONDO:0006025 | -| MONDO:0957148 | hypomyelinating leukodystrophy 15 | DOID:0070398 | MONDO:equivalentTo | hypomyelinating leukodystrophy 15 | | MONDO:0019046|MONDO:0006025 | -| MONDO:0957149 | hypomyelinating leukodystrophy 18 | DOID:0070399 | MONDO:equivalentTo | hypomyelinating leukodystrophy 18 | | MONDO:0019046|MONDO:0006025 | -| MONDO:0957150 | hypomyelinating leukodystrophy 19 | DOID:0070400 | MONDO:equivalentTo | hypomyelinating leukodystrophy 19 | | MONDO:0019046|MONDO:0000426 | -| MONDO:0957151 | hypomyelinating leukodystrophy 25 | DOID:0070401 | MONDO:equivalentTo | hypomyelinating leukodystrophy 25 | | MONDO:0019046|MONDO:0000426 | -| MONDO:0957152 | hypomyelinating leukodystrophy 22 | DOID:0070402 | MONDO:equivalentTo | hypomyelinating leukodystrophy 22 | | MONDO:0019046|MONDO:0000426 | -| MONDO:0957153 | hypomyelinating leukodystrophy 26 | DOID:0070403 | MONDO:equivalentTo | hypomyelinating leukodystrophy 26 | | MONDO:0019046|MONDO:0006025 | -| MONDO:0957154 | hypomyelinating leukodystrophy 17 | DOID:0070404 | MONDO:equivalentTo | hypomyelinating leukodystrophy 17 | | MONDO:0019046|MONDO:0006025 | -| MONDO:0957155 | hypomyelinating leukodystrophy 16 | DOID:0070405 | MONDO:equivalentTo | hypomyelinating leukodystrophy 16 | | MONDO:0019046|MONDO:0000426 | -| MONDO:0957156 | hypomyelinating leukodystrophy 24 | DOID:0070406 | MONDO:equivalentTo | hypomyelinating leukodystrophy 24 | | MONDO:0019046|MONDO:0000426 | -| MONDO:0957157 | hypomyelinating leukodystrophy 21 | DOID:0070407 | MONDO:equivalentTo | hypomyelinating leukodystrophy 21 | | MONDO:0019046|MONDO:0006025 | -| MONDO:0957158 | hengel-maroofian-schols syndrome | DOID:0070408 | MONDO:equivalentTo | Hengel-Maroofian-Schols syndrome | | MONDO:0002254|MONDO:0006025 | -| MONDO:0957159 | autosomal recessive spinocerebellar ataxia 28 | DOID:0070409 | MONDO:equivalentTo | autosomal recessive spinocerebellar ataxia 28 | | MONDO:0015244 | -| MONDO:0957160 | autosomal recessive spinocerebellar ataxia 29 | DOID:0070410 | MONDO:equivalentTo | autosomal recessive spinocerebellar ataxia 29 | | MONDO:0015244 | -| MONDO:0957161 | autosomal recessive spinocerebellar ataxia 30 | DOID:0070411 | MONDO:equivalentTo | autosomal recessive spinocerebellar ataxia 30 | | MONDO:0015244 | -| MONDO:0957162 | autosomal recessive spinocerebellar ataxia 31 | DOID:0070412 | MONDO:equivalentTo | autosomal recessive spinocerebellar ataxia 31 | | MONDO:0015244 | -| MONDO:0957163 | autosomal recessive spinocerebellar ataxia 32 | DOID:0070413 | MONDO:equivalentTo | autosomal recessive spinocerebellar ataxia 32 | | MONDO:0015244 | -| MONDO:0957164 | autosomal recessive spinocerebellar ataxia 33 | DOID:0070414 | MONDO:equivalentTo | autosomal recessive spinocerebellar ataxia 33 | | MONDO:0015244 | -| MONDO:0957165 | brachycephaly, trichomegaly, and developmental delay | DOID:0070415 | MONDO:equivalentTo | brachycephaly, trichomegaly, and developmental delay | | MONDO:0002254|MONDO:0000426 | -| MONDO:0957166 | luo-schoch-yamamoto syndrome | DOID:0070416 | MONDO:equivalentTo | Luo-Schoch-Yamamoto syndrome | | MONDO:0015802 | -| MONDO:0957167 | neurodevelopmental disorder with speech impairment and dysmorphic facies | DOID:0070417 | MONDO:equivalentTo | neurodevelopmental disorder with speech impairment and dysmorphic facies | | MONDO:0015802 | -| MONDO:0957168 | vertebral hypersegmentation and orofacial anomalies | DOID:0070418 | MONDO:equivalentTo | vertebral hypersegmentation and orofacial anomalies | | MONDO:0002254|MONDO:0000426 | -| MONDO:0957169 | acrocardiofacial syndrome | DOID:0070419 | MONDO:equivalentTo | acrocardiofacial syndrome | | MONDO:0002254 | -| MONDO:0957170 | developmental delay, hypotonia, and impaired language | DOID:0070420 | MONDO:equivalentTo | developmental delay, hypotonia, and impaired language | | MONDO:0015802 | -| MONDO:0957171 | neurodevelopmental disorder with spasticity and poor growth | DOID:0070421 | MONDO:equivalentTo | neurodevelopmental disorder with spasticity and poor growth | | MONDO:0019502 | -| MONDO:0957172 | syndromic x-linked intellectual disability pilgorge type | DOID:0070422 | MONDO:equivalentTo | syndromic X-linked intellectual disability Pilgorge type | | MONDO:0020119 | -| MONDO:0957173 | early onset progressive encephalopathy with brain atrophy and thin corpus callosum | DOID:0070423 | MONDO:equivalentTo | early onset progressive encephalopathy with brain atrophy and thin corpus callosum | | MONDO:0019502 | -| MONDO:0957174 | becker disease | DOID:0081335 | MONDO:equivalentTo | Becker disease | A myotonia congenita that is characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1) on chromosome 7q34. | MONDO:0009710|MONDO:0006025 | -| MONDO:0957175 | thomsen disease | DOID:0081336 | MONDO:equivalentTo | Thomsen disease | A myotonia congenita that is characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction and that has_material_basis_in heterozygous mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1) on chromosome 7q34. | MONDO:0009710|MONDO:0000426 | -| MONDO:0957176 | congenital myopathy | DOID:0081337 | MONDO:equivalentTo | congenital myopathy | A myopathy that is characterized by hypotonia and weakness, usually present from birth. | MONDO:0005336 | -| MONDO:0957177 | myofibrillar myopathy 11 | DOID:0081338 | MONDO:equivalentTo | myofibrillar myopathy 11 | A myofibrillar myopathy that is characterized by onset of slowly progressive proximal muscle weakness in the first decade of life and that has_material_basis_in homozygous or compound heterozygous mutation in the UNC45B gene on chromosome 17q11. | MONDO:0018943 | -| MONDO:0957178 | spinal muscular atrophy, jokela type | DOID:0081356 | MONDO:equivalentTo | spinal muscular atrophy, Jokela type | A spinal muscular atrophy that is characterized by adult-onset of muscle cramps and fasciculations affecting the proximal and distal muscles of the upper and lower limbs and that has_material_basis_in heterozygous mutation in the CHCHD10 gene on chromosome 22q11. | MONDO:0001516|MONDO:0000426 | -| MONDO:0957179 | isolated mitochondrial myopathy | DOID:0081357 | MONDO:equivalentTo | isolated mitochondrial myopathy | A mitochondrial myopathy that is characterized by onset of proximal lower limb weakness and exercise intolerance in the first decade of life and that has_material_basis_in heterozygous mutation in the CHCHD10 gene on chromosome 22q11. | MONDO:0009637|MONDO:0000426 | -| MONDO:0957180 | epidermolytic hyperkeratosis 1 | DOID:0081358 | MONDO:equivalentTo | epidermolytic hyperkeratosis 1 | An epidermolytic hyperkeratosis that is characterized in adulthood by warty flexural hyperkeratosis with fewer erosions and blisters and that usually presents at birth with erythema and blistering and that has_material_basis_in heterozygous mutation in the keratin-1 gene (KRT1) on chromosome 12q13. | MONDO:0007239|MONDO:0000426 | -| MONDO:0957181 | epidermolytic hyperkeratosis 2 | DOID:0081359 | MONDO:equivalentTo | epidermolytic hyperkeratosis 2 | An epidermolytic hyperkeratosis that is characterized by generalized erythema, erosions, scaling, and easily breaking blisters that become less frequent later in life, while hyperkeratosis increases and that has_material_basis_in heterozygous or homozygous mutation in the keratin-10 gene (KRT10) on chromosome 17q21. | MONDO:0007239 | -| MONDO:0957182 | spastic quadriplegic cerebral palsy 2 | DOID:0081360 | MONDO:equivalentTo | spastic quadriplegic cerebral palsy 2 | A spastic quadriplegic cerebral palsy that has_material_basis_in deletion of the ANKRD15 gene (KANK1) inherited on the paternal allele. | MONDO:0016215 | -| MONDO:0957183 | spastic quadriplegic cerebral palsy 3 | DOID:0081361 | MONDO:equivalentTo | spastic quadriplegic cerebral palsy 3 | A spastic quadriplegic cerebral palsy that has_material_basis_in homozygous mutation in the ADD3 gene on chromosome 10q24. | MONDO:0016215|MONDO:0006025 | -| MONDO:0957184 | pierpont syndrome | DOID:0081362 | MONDO:equivalentTo | Pierpont syndrome | An autosomal dominant intellectual developmental disorder that is characteried by distinctive facial characteristics, especially when smiling, plantar fat pads, and other limb anomalies and that has_material_basis_in heterozygous mutation in the TBL1XR1 gene on chromosome 3q26. | MONDO:0015802 | -| MONDO:0957185 | distal myopathy with rimmed vacuoles | DOID:0081363 | MONDO:equivalentTo | distal myopathy with rimmed vacuoles | A distal myopathy that is characterized by adult onset of muscle weakness affecting the distal upper and lower limbs, which may result in walking difficulties, as well as proximal weakness of the shoulder girdle muscles and that has_material_basis_in by heterozygous mutation in the SQSTM1 gene on chromosome 5q35. | MONDO:0018949|MONDO:0000426 | -| MONDO:0957186 | neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | DOID:0081364 | MONDO:equivalentTo | neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | A neurodegenerative disease that is characterized by onset of gait ataxia, cognitive decline, and gaze palsy in the first or second decades and that has_material_basis_in homozygous mutation in the SQSTM1 gene on chromosome 5q35. | MONDO:0005559 | -| MONDO:0957187 | paget's disease of bone 2 | DOID:0081365 | MONDO:equivalentTo | Paget's disease of bone 2 | A Paget's disease of bone that has_material_basis_in heterozygous mutation in the TNFRSF11A gene, which encodes RANK, on chromosome 18q21. | MONDO:0005382|MONDO:0000426 | -| MONDO:0957188 | paget's disease of bone 3 | DOID:0081366 | MONDO:equivalentTo | Paget's disease of bone 3 | A Paget's disease of bone that has_material_basis_in heterozygous mutation in the SQSTM1 gene on chromosome 5q35. | MONDO:0005382|MONDO:0000426 | -| MONDO:0957189 | paget's disease of bone 4 | DOID:0081367 | MONDO:equivalentTo | Paget's disease of bone 4 | A Paget's disease of bone that has_material_basis_in linkage to the 5q31 region within 12.2 cM, between D5S642 and D5S1972. | MONDO:0005382|MONDO:0000426 | -| MONDO:0957190 | paget's disease of bone 5 | DOID:0081368 | MONDO:equivalentTo | Paget's disease of bone 5 | A Paget's disease of bone that is characterized by short stature, progressive long bone deformities, fractures, vertebral collapse, skull enlargement, and hyperostosis with progressive deafness and that has_material_basis_in osteoprotegerin deficiency caused by homozygous or compound heterozygous mutation in the TNFRSF11B gene on chromosome 8q24. | MONDO:0005382|MONDO:0006025 | -| MONDO:0957191 | paget's disease of bone 6 | DOID:0081369 | MONDO:equivalentTo | Paget's disease of bone 6 | A Paget's disease of bone that is characterized by adult onset of bone pain associated with polyostotic bone lesions primarily affecting the axial skeleton and that has_material_basis_in heterozygous mutation in the ZNF687 gene on chromosome 1q21. | MONDO:0005382|MONDO:0000426 | -| MONDO:0957195 | digenic disease | DOID:0080578 | MONDO:equivalentTo | digenic disease | | | -| MONDO:0957196 | diffuse midline glioma, h3 k27m-mutant | DOID:0080684 | MONDO:equivalentTo | diffuse midline glioma, H3 K27M-mutant | A histone mutated tumor that is characterized by the presence of histone H3 K27M mutation located throughout the midline structures of the central nervous system. | | -| MONDO:0957197 | diffuse glioma, h3 g34 mutant | DOID:0080880 | MONDO:equivalentTo | diffuse glioma, H3 G34 mutant | A histone mutated tumor that has_material_basis_in mutations in codon 34 of the H3 histone family 3A protein. | | \ 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 % | +| MONDO:0956962 | benign teratoma | DOID:0080602 | MONDO:equivalentTo | benign teratoma | A germ cell benign neoplasm that derives_from mature tissue elements or a limited amount of immature tissue elements. | MONDO:0850144 | +| MONDO:0956964 | medulloblastoma shh activated and tp53 mutant | DOID:0080704 | MONDO:equivalentTo | medulloblastoma SHH activated and TP53 mutant | A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the presence of TP53 mutations. | MONDO:0850197 | +| MONDO:0956965 | medulloblastoma shh activated and tp53 wild-type | DOID:0080705 | MONDO:equivalentTo | medulloblastoma SHH activated and TP53 wild-type | A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the absence of TP53 mutations. | MONDO:0850197 | +| MONDO:0956966 | medulloblastoma non-wnt/non-shh group 3 | DOID:0080707 | MONDO:equivalentTo | medulloblastoma non-WNT/non-SHH group 3 | A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by absent TP53 mutations and MYC amplifications that may be present. | MONDO:0850198 | +| MONDO:0956967 | medulloblastoma non-wnt/non-shh group 4 | DOID:0080708 | MONDO:equivalentTo | medulloblastoma non-WNT/non-SHH group 4 | A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by the absence of MYC amplifications and TP53 mutations and chromosome 17 abnormalities that may be present. | MONDO:0850198 | +| MONDO:0956968 | gene duplication disease | DOID:0080712 | MONDO:equivalentTo | gene duplication disease | A monogenic disease that is the result of a mutation that involves the production of one or more copies of a gene. | MONDO:0000275 | +| MONDO:0956969 | chronic inducible urticaria | DOID:0080748 | MONDO:equivalentTo | chronic inducible urticaria | A chronic urticaria that is characterized by a history of a consistent stimulus that initiates lesions, which are typically short-lived and fleeting, lasting a few minutes up to 2 hours. | MONDO:0850230 | +| MONDO:0956970 | chronic spontaneous urticaria | DOID:0080749 | MONDO:equivalentTo | chronic spontaneous urticaria | A chronic urticaria that is characterized by urticaria independent of any exogenous stimulus. | MONDO:0850230 | +| MONDO:0956971 | intermittent asthma | DOID:0080812 | MONDO:equivalentTo | intermittent asthma | A chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control two or fewer days per week and no interference with normal activity. | MONDO:0850282 | +| MONDO:0956972 | persistent mild asthma | DOID:0080813 | MONDO:equivalentTo | persistent mild asthma | A chronic asthma that is characterized by severity with symptoms two or more days per week, nighttime awakenings three to four times per month, use of short-acting beta agonist for symptom control two or more days per week and minor limitation of normal activity. | MONDO:0850282 | +| MONDO:0956973 | persistent moderate asthma | DOID:0080814 | MONDO:equivalentTo | persistent moderate asthma | A chronic asthma that is characterized by severity with daily symptoms, nighttime awakenings more than once per week, daily use of short-acting beta agonist for symptom control and some limitation of normal activity. | MONDO:0850282 | +| MONDO:0956974 | adult-onset severe asthma | DOID:0080816 | MONDO:equivalentTo | adult-onset severe asthma | A chronic asthma that is characterized by first presentation in adulthood. | MONDO:0850282 | +| MONDO:0956975 | t2-high asthma | DOID:0080817 | MONDO:equivalentTo | T2-high asthma | A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of early-onset allergic asthma, late-onset eosinophilic asthma, and aspirin-exacerbated respiratory disease. | MONDO:0850282 | +| MONDO:0956976 | t2-low asthma | DOID:0080818 | MONDO:equivalentTo | T2-low asthma | A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of non-atopic, smoking, obesity related, and elderly and that is characterized by neutrophilic (sputum neutrophils > 40–60%) or paucigranulocytic (i.e., normal sputum levels of both eosinophils and neutrophils) inflammation and a lack of response to corticosteroid therapy. | MONDO:0850282 | +| MONDO:0956977 | near-fatal asthma | DOID:0080823 | MONDO:equivalentTo | near-fatal asthma | An acute asthma that is characterized by a respiratory arrest or arterial carbon dioxide tension greater than 50 mmHg, with or without altered consciousness, requiring mechanical ventilation. | MONDO:0850283 | +| MONDO:0956978 | persistent severe asthma | DOID:0080824 | MONDO:equivalentTo | persistent severe asthma | A chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control several times per day and extremely limited normal activity. | MONDO:0850282 | +| MONDO:0956979 | nocturnal asthma | DOID:0080826 | MONDO:equivalentTo | nocturnal asthma | A chronic asthma that is characterized by significant decline in pulmonary function and increase of airway inflammation at night. During sleep, recumbent posture causes a reduction in the lung volumes, respiratory muscle tone, and lung compliance. The overnight physiological abnormalities include: increased airway inflammation and decreased steroid responsiveness, increased pulmonary capillary blood volume, functional differences in blood/air volume ratios and mechanical coupling of the parenchyma to the airways. | MONDO:0850282 | +| MONDO:0956980 | vascular parkinsonism | DOID:0080856 | MONDO:equivalentTo | vascular Parkinsonism | A Parkinsonism that is characterized by postural instability, a broad-based gait with the absence of tremors of vascular origin. | MONDO:0021095 | +| MONDO:0956981 | astrocytoma, idh-mutant, grade 4 | DOID:0080877 | MONDO:equivalentTo | astrocytoma, IDH-mutant, grade 4 | An IDH-mutant anaplastic astrocytoma that is characterized by the presence of necrosis and/or microvascular proliferation or homozygous deletion of CDKN2A and/or CDKN2B genes. The term glioblastoma no longer applies to central nervous system WHO grade 4 IDH-mutant astrocytomas. | MONDO:0850332 | +| MONDO:0956983 | pleomorphic xanthoastrocytoma braf mutant | DOID:0080881 | MONDO:equivalentTo | pleomorphic xanthoastrocytoma BRAF mutant | An anaplastic pleomorphic xanthoastrocytoma that has_material_basis_in BRAF mutations. | MONDO:0850312 | +| MONDO:0956984 | yap1-mamld1 fusion-positive supratentorial ependymoma | DOID:0080891 | MONDO:equivalentTo | YAP1-MAMLD1 fusion-positive supratentorial ependymoma | A supratentorial ependymoma that has_material_basis_in YAP1-MAMLD1 fusion. | MONDO:0850340 | +| MONDO:0956985 | lipofibromatosis-like neural tumor | DOID:0080894 | MONDO:equivalentTo | lipofibromatosis-like neural tumor | A connective tissue cancer that has_material_basis_in LMNA-NTRK1 gene fusion. | MONDO:0002176 | +| MONDO:0956986 | solitary fibrous tumor/hemangiopericytoma | DOID:0080897 | MONDO:equivalentTo | solitary fibrous tumor/hemangiopericytoma | A connective tissue cancer that is characterized as the combination of solitary fibrous tumors and hemangiopericytomas. | MONDO:0002176 | +| MONDO:0956987 | ezb-myc+ diffuse large b-cell lymphoma | DOID:0081070 | MONDO:equivalentTo | EZB-MYC+ diffuse large B-cell lymphoma | An EZB diffuse large B-cell lymphoma that expresses the double hit gene expression signature (DHITsig+) according to gene expression profiling. In addition to the features characteristic of EZB, these cases commonly, but do not always, harbour MYC translocations and DDX3X mutations. | MONDO:0850469 | +| MONDO:0956988 | ezb-myc- diffuse large b-cell lymphoma | DOID:0081071 | MONDO:equivalentTo | EZB-MYC- diffuse large B-cell lymphoma | An EZB diffuse large B-cell lymphoma that does not express the double hit gene expression signature (DHITsig-) according to gene expression profiling. These cases tend to have few MYC translocations or DDX3X mutations. | MONDO:0850469 | +| MONDO:0956989 | cic-rearranged sarcoma | DOID:0081250 | MONDO:equivalentTo | CIC-rearranged sarcoma | An EWSERI-negative small round cell tumor that is characterized by a recurrent translocation involving the CIC gene on chromosome 19 and either DUX4 gene on chromosome 4 or DUX4L gene on chromosome 10. The translocation results in either CIC-DUX4, t(4;19)(q35;q13) or CIC-DUX4L, t(10;19)(q26;q13) fusions. | MONDO:0858921 | +| MONDO:0956990 | supratentorial ependymoma, zfta fusion–positive | DOID:0081252 | MONDO:equivalentTo | supratentorial ependymoma, ZFTA fusion–positive | A suptratentorial ependymoma that is characterized by the presence of a fusion gene involving ZFTA gene. | MONDO:0850340 | +| MONDO:0956991 | supratentorial ependymoma, yap1 fusion–positive | DOID:0081253 | MONDO:equivalentTo | supratentorial ependymoma, YAP1 fusion–positive | A supratentorial ependymoma that is characterized by the presence of a fusion gene involving YAP1 gene. | MONDO:0850340 | +| MONDO:0956992 | posterior fossa group a ependymoma | DOID:0081254 | MONDO:equivalentTo | posterior fossa group A ependymoma | A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns, including CpG island hypermethylation, global DNA hypomethylation, reduction of nuclear H3 p.K28me3 (K27me3) expression, and EZHIP overexpression. | MONDO:0850339 | +| MONDO:0956993 | posterior fossa group b ependymoma | DOID:0081255 | MONDO:equivalentTo | posterior fossa group B ependymoma | A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns including retention of nuclear H3 p.K28me3 (K27me3) expression, absence of CpG island hypermethylation, absence of global DNA hypomethylation, and absence of EZHIP overexpression. | MONDO:0850339 | +| MONDO:0956994 | astrocytoma, idh-mutant, grade 2 | DOID:0081256 | MONDO:equivalentTo | astrocytoma, IDH-mutant, grade 2 | An IDH-mutant anaplastic astrocytoma that is characterized by the presence of well-differentiated fibrillary glial cells diffusely infiltrating the central nervous system. | MONDO:0850332 | +| MONDO:0956995 | astrocytoma, idh-mutant, grade 3 | DOID:0081257 | MONDO:equivalentTo | astrocytoma, IDH-mutant, grade 3 | An IDH-mutant anaplastic astrocytoma that is characterized by the presence of increased mitotic activity and anaplastic features. | MONDO:0850332 | +| MONDO:0956996 | oligodendroglioma, idh-mutant and 1p/19q-codeleted grade 2 | DOID:0081281 | MONDO:equivalentTo | oligodendroglioma, IDH-mutant and 1p/19q-codeleted grade 2 | An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as a well differentiated tumor lacking anaplastic features (brisk mitotic activity, microvascular proliferation, necrosis). | MONDO:0859592 | +| MONDO:0956997 | oligodendroglioma, idh-mutant and 1p/19q-codeleted, grade 3 | DOID:0081282 | MONDO:equivalentTo | oligodendroglioma, IDH-mutant and 1p/19q-codeleted, grade 3 | An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as grade 3 tumors associated with a more rapid growth. Grade 3 tumors appear to have abnormalities on chromosomes 9 or 10, along with unusual amounts of growth factors and proteins, which are thought to contribute to the more rapid growth of these gliomas. | MONDO:0859592 | +| MONDO:0957118 | bradyopsia 2 | DOID:0070364 | MONDO:equivalentTo | bradyopsia 2 | | MONDO:0012033 | +| MONDO:0957120 | nevoid basal cell carcinoma syndrome 2 | DOID:0070366 | MONDO:equivalentTo | nevoid basal cell carcinoma syndrome 2 | | MONDO:0007187 | +| MONDO:0957121 | leukoencephalopathy with vanishing white matter 5 | DOID:0070367 | MONDO:equivalentTo | leukoencephalopathy with vanishing white matter 5 | | MONDO:0011380 | +| MONDO:0957122 | leukoencephalopathy with vanishing white matter 4 | DOID:0070371 | MONDO:equivalentTo | leukoencephalopathy with vanishing white matter 4 | | MONDO:0011380 | +| MONDO:0957123 | leukoencephalopathy with vanishing white matter 3 | DOID:0070372 | MONDO:equivalentTo | leukoencephalopathy with vanishing white matter 3 | | MONDO:0011380 | +| MONDO:0957124 | leukoencephalopathy with vanishing white matter 2 | DOID:0070373 | MONDO:equivalentTo | leukoencephalopathy with vanishing white matter 2 | | MONDO:0011380 | +| MONDO:0957127 | developmental and epileptic encephalopathy 31b | DOID:0070376 | MONDO:equivalentTo | developmental and epileptic encephalopathy 31B | | MONDO:0100062|MONDO:0006025 | +| MONDO:0957181 | epidermolytic hyperkeratosis 2 | DOID:0081359 | MONDO:equivalentTo | epidermolytic hyperkeratosis 2 | An epidermolytic hyperkeratosis that is characterized by generalized erythema, erosions, scaling, and easily breaking blisters that become less frequent later in life, while hyperkeratosis increases and that has_material_basis_in heterozygous or homozygous mutation in the keratin-10 gene (KRT10) on chromosome 17q21. | MONDO:0007239 | +| MONDO:0957195 | digenic disease | DOID:0080578 | MONDO:equivalentTo | digenic disease | | | +| MONDO:0957196 | diffuse midline glioma, h3 k27m-mutant | DOID:0080684 | MONDO:equivalentTo | diffuse midline glioma, H3 K27M-mutant | A histone mutated tumor that is characterized by the presence of histone H3 K27M mutation located throughout the midline structures of the central nervous system. | | +| MONDO:0957197 | diffuse glioma, h3 g34 mutant | DOID:0080880 | MONDO:equivalentTo | diffuse glioma, H3 G34 mutant | A histone mutated tumor that has_material_basis_in mutations in codon 34 of the H3 histone family 3A protein. | | +| MONDO:0957327 | congenital myopathy 20 | DOID:0081352 | MONDO:equivalentTo | congenital myopathy 20 | A congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the RYR3 gene on chromosome 15q13 and that shows wide phenotypic variability. Some patients present in early childhood with proximal muscle weakness affecting the lower and upper limbs resulting in difficulties running and climbing, whereas others present soon after birth with congenital limb or distal contractures. | MONDO:0019952|MONDO:0006025 | +| MONDO:0957328 | congenital myopathy 21 | DOID:0081353 | MONDO:equivalentTo | congenital myopathy 21 | A congenital myopathy that is characterized by diaphragmatic weakness and spinal rigidity and that has_material_basis_in homozygous mutation in the DNAJB4 gene on chromosome 1p31. | MONDO:0019952|MONDO:0006025 | +| MONDO:0957329 | congenital myopathy 22a | DOID:0081354 | MONDO:equivalentTo | congenital myopathy 22A | A congenital myopathy that is characterized by onset of muscle weakness in utero or soon after birth and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23. Biallelic mutation in the SCN4A gene also causes severe fetal congenital myopathy 22B. | MONDO:0019952|MONDO:0006025 | +| MONDO:0957330 | congenital myopathy 22b | DOID:0081355 | MONDO:equivalentTo | congenital myopathy 22B | A congenital myopathy that is characterized by in utero onset of severe muscle weakness manifest as fetal akinesia and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23. | MONDO:0019952|MONDO:0006025 | \ No newline at end of file diff --git a/docs/reports/migrate_ncit.md b/docs/reports/migrate_ncit.md index 0a07f2f8..c11ff346 100644 --- a/docs/reports/migrate_ncit.md +++ b/docs/reports/migrate_ncit.md @@ -2110,11 +2110,11 @@ | MONDO:0860068 | digestive system precancerous condition | NCIT:C7659 | MONDO:equivalentTo | Digestive System Precancerous Condition | | | | MONDO:0860069 | cutaneous precancerous condition | NCIT:C8957 | MONDO:equivalentTo | Cutaneous Precancerous Condition | | | | MONDO:0860070 | neonatal disorder | NCIT:C98996 | MONDO:equivalentTo | Neonatal Disorder | | | -| MONDO:0950124 | cic-rearranged sarcoma | NCIT:C120224 | MONDO:equivalentTo | CIC-Rearranged Sarcoma | | MONDO:0858921 | | MONDO:0950158 | core binding factor acute myeloid leukemia | NCIT:C122688 | MONDO:equivalentTo | Core Binding Factor Acute Myeloid Leukemia | | MONDO:0020078 | | MONDO:0955884 | adult acute eosinophilic leukemia | NCIT:C7963 | MONDO:equivalentTo | Adult Acute Eosinophilic Leukemia | | MONDO:0043881 | | MONDO:0956043 | acute myeloid leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2); gata2, mecom | NCIT:C82426 | MONDO:equivalentTo | Acute Myeloid Leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2); GATA2, MECOM | | MONDO:0020078 | | MONDO:0956044 | acute myeloid leukemia (megakaryoblastic) with t(1;22)(p13.3;q13.1); rbm15-mkl1 | NCIT:C82427 | MONDO:equivalentTo | Acute Myeloid Leukemia (Megakaryoblastic) with t(1;22)(p13.3;q13.1); RBM15-MKL1 | | MONDO:0020078 | | MONDO:0956704 | childhood acute eosinophilic leukemia | NCIT:C9165 | MONDO:equivalentTo | Childhood Acute Eosinophilic Leukemia | | MONDO:0043881 | | MONDO:0956756 | acute myeloid leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); cbfb-myh11 | NCIT:C9287 | MONDO:equivalentTo | Acute Myeloid Leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11 | | MONDO:0020078 | -| MONDO:0956757 | acute myeloid leukemia with t(8;21); (q22; q22.1); runx1-runx1t1 | NCIT:C9288 | MONDO:equivalentTo | Acute Myeloid Leukemia with t(8;21); (q22; q22.1); RUNX1-RUNX1T1 | | MONDO:0020078 | \ No newline at end of file +| MONDO:0956757 | acute myeloid leukemia with t(8;21); (q22; q22.1); runx1-runx1t1 | NCIT:C9288 | MONDO:equivalentTo | Acute Myeloid Leukemia with t(8;21); (q22; q22.1); RUNX1-RUNX1T1 | | MONDO:0020078 | +| MONDO:0957332 | ewsr1-negative small round cell tumor | NCIT:C165671 | MONDO:equivalentTo | EWSR1-Negative Small Round Cell Tumor | | MONDO:0006974 | \ No newline at end of file diff --git a/docs/reports/migrate_omim.md b/docs/reports/migrate_omim.md index 17de0402..aff3a07d 100644 --- a/docs/reports/migrate_omim.md +++ b/docs/reports/migrate_omim.md @@ -6,67 +6,33 @@ |:--------------|:-------------------------------------------------------------------------------------------------------------------|:---------------------|:---------------------------|:-------------------------------------------------------------------------------------------------------------------|:--------------|:--------------| | ID | LABEL | A oboInOwl:hasDbXref | >A oboInOwl:source SPLIT=| | | A IAO:0000115 | SC % | | MONDO:0957193 | hearing loss, noise-induced, susceptibility to | OMIM:613035 | MONDO:equivalentTo | hearing loss, noise-induced, susceptibility to | | | -| MONDO:0957199 | mpc1l | OMIM:301103 | MONDO:equivalentTo | MPC1L | | | -| MONDO:0957200 | ppp1r3f | OMIM:301104 | MONDO:equivalentTo | PPP1R3F | | | -| MONDO:0957201 | ct55 | OMIM:301105 | MONDO:equivalentTo | CT55 | | | | MONDO:0957202 | spermatogenic failure, x-linked, 7 | OMIM:301106 | MONDO:equivalentTo | spermatogenic failure, x-linked, 7 | | MONDO:0004983 | | MONDO:0957203 | intellectual developmental disorder, x-linked 111 | OMIM:301107 | MONDO:equivalentTo | intellectual developmental disorder, X-linked 111 | | MONDO:0019181 | | MONDO:0957204 | autoinflammation with pulmonary and cutaneous vasculitis | OMIM:620296 | MONDO:equivalentTo | autoinflammation with pulmonary and cutaneous vasculitis | | | -| MONDO:0957205 | mfsd4a | OMIM:620299 | MONDO:equivalentTo | MFSD4A | | | -| MONDO:0957206 | mfsd9 | OMIM:620301 | MONDO:equivalentTo | MFSD9 | | | -| MONDO:0957207 | wdr76 | OMIM:620302 | MONDO:equivalentTo | WDR76 | | | | MONDO:0957208 | pituitary hormone deficiency, combined or isolated, 8 | OMIM:620303 | MONDO:equivalentTo | pituitary hormone deficiency, combined or isolated, 8 | | MONDO:0013099 | -| MONDO:0957209 | nol9 | OMIM:620304 | MONDO:equivalentTo | NOL9 | | | | MONDO:0957210 | neurooculorenal syndrome | OMIM:620305 | MONDO:equivalentTo | neurooculorenal syndrome | | | | MONDO:0957211 | neurodegeneration and seizures due to copper transport defect | OMIM:620306 | MONDO:equivalentTo | neurodegeneration and seizures due to copper transport defect | | | -| MONDO:0957212 | wdr24 | OMIM:620307 | MONDO:equivalentTo | WDR24 | | | -| MONDO:0957213 | mfsd3 | OMIM:620308 | MONDO:equivalentTo | MFSD3 | | | -| MONDO:0957214 | fam171b | OMIM:620309 | MONDO:equivalentTo | FAM171B | | | | MONDO:0957215 | congenital myopathy 20 | OMIM:620310 | MONDO:equivalentTo | congenital myopathy 20 | | MONDO:0019952 | | MONDO:0957216 | premature ovarian failure 21 | OMIM:620311 | MONDO:equivalentTo | premature ovarian failure 21 | | MONDO:0019852 | | MONDO:0957217 | cortical dysplasia, complex, with other brain malformations 12 | OMIM:620316 | MONDO:equivalentTo | cortical dysplasia, complex, with other brain malformations 12 | | MONDO:0000904 | | MONDO:0957218 | neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities | OMIM:620317 | MONDO:equivalentTo | neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities | | | -| MONDO:0957219 | slc49a3 | OMIM:620318 | MONDO:equivalentTo | SLC49A3 | | | | MONDO:0957220 | oocyte/zygote/embryo maturation arrest 17 | OMIM:620319 | MONDO:equivalentTo | oocyte/zygote/embryo maturation arrest 17 | | MONDO:0014769 | | MONDO:0957221 | spastic paraplegia 70, autosomal recessive | OMIM:620323 | MONDO:equivalentTo | spastic paraplegia 70, autosomal recessive | | MONDO:0019064 | -| MONDO:0957222 | slc15a5 | OMIM:620324 | MONDO:equivalentTo | SLC15A5 | | | -| MONDO:0957223 | tmem144 | OMIM:620325 | MONDO:equivalentTo | TMEM144 | | | | MONDO:0957224 | congenital myopathy 21 with early respiratory failure | OMIM:620326 | MONDO:equivalentTo | congenital myopathy 21 with early respiratory failure | | MONDO:0019952 | | MONDO:0957225 | neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities | OMIM:620327 | MONDO:equivalentTo | neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities | | | -| MONDO:0957226 | slc44a3 | OMIM:620328 | MONDO:equivalentTo | SLC44A3 | | | -| MONDO:0957227 | slc44a5 | OMIM:620329 | MONDO:equivalentTo | SLC44A5 | | | | MONDO:0957228 | intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities | OMIM:620330 | MONDO:equivalentTo | intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities | | MONDO:0100172 | | MONDO:0957229 | hatipoglu immunodeficiency syndrome | OMIM:620331 | MONDO:equivalentTo | hatipoglu immunodeficiency syndrome | | MONDO:0021094 | | MONDO:0957230 | oocyte/zygote/embryo maturation arrest 18 | OMIM:620332 | MONDO:equivalentTo | oocyte/zygote/embryo maturation arrest 18 | | MONDO:0014769 | | MONDO:0957231 | oocyte/zygote/embryo maturation arrest 19 | OMIM:620333 | MONDO:equivalentTo | oocyte/zygote/embryo maturation arrest 19 | | MONDO:0014769 | -| MONDO:0957232 | trim42 | OMIM:620334 | MONDO:equivalentTo | TRIM42 | | | -| MONDO:0957233 | cdc20b | OMIM:620335 | MONDO:equivalentTo | CDC20B | | | -| MONDO:0957234 | zswim3 | OMIM:620336 | MONDO:equivalentTo | ZSWIM3 | | | -| MONDO:0957235 | slc35e1 | OMIM:620337 | MONDO:equivalentTo | SLC35E1 | | | -| MONDO:0957236 | slc9c2 | OMIM:620338 | MONDO:equivalentTo | SLC9C2 | | | -| MONDO:0957237 | slc23a3 | OMIM:620339 | MONDO:equivalentTo | SLC23A3 | | | -| MONDO:0957238 | nipal1 | OMIM:620340 | MONDO:equivalentTo | NIPAL1 | | | -| MONDO:0957239 | wdr75 | OMIM:620341 | MONDO:equivalentTo | WDR75 | | | | MONDO:0957240 | cone-rod dystrophy 24 | OMIM:620342 | MONDO:equivalentTo | cone-rod dystrophy 24 | | MONDO:0015993 | -| MONDO:0957241 | mfsd5 | OMIM:620345 | MONDO:equivalentTo | MFSD5 | | | -| MONDO:0957242 | mfsd11 | OMIM:620346 | MONDO:equivalentTo | MFSD11 | | | -| MONDO:0957243 | mfsd14a | OMIM:620347 | MONDO:equivalentTo | MFSD14A | | | -| MONDO:0957244 | mfsd14b | OMIM:620348 | MONDO:equivalentTo | MFSD14B | | | -| MONDO:0957245 | slc35f1 | OMIM:620349 | MONDO:equivalentTo | SLC35F1 | | | -| MONDO:0957246 | slc35f2 | OMIM:620350 | MONDO:equivalentTo | SLC35F2 | | | | MONDO:0957247 | congenital myopathy 22a, classic | OMIM:620351 | MONDO:equivalentTo | congenital myopathy 22a, classic | | MONDO:0019952 | | MONDO:0957248 | developmental and epileptic encephalopathy 31b | OMIM:620352 | MONDO:equivalentTo | developmental and epileptic encephalopathy 31b | | MONDO:0100062 | | MONDO:0957249 | spermatogenic failure 82 | OMIM:620353 | MONDO:equivalentTo | spermatogenic failure 82 | | MONDO:0004983 | | MONDO:0957250 | spermatogenic failure 83 | OMIM:620354 | MONDO:equivalentTo | spermatogenic failure 83 | | MONDO:0004983 | -| MONDO:0957251 | slc35e3 | OMIM:620355 | MONDO:equivalentTo | SLC35E3 | | | | MONDO:0957252 | ciliary dyskinesia, primary, 50 | OMIM:620356 | MONDO:equivalentTo | ciliary dyskinesia, primary, 50 | | MONDO:0016575 | | MONDO:0957253 | diarrhea 13 | OMIM:620357 | MONDO:equivalentTo | diarrhea 13 | | MONDO:0000824 | | MONDO:0957254 | mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 4a | OMIM:620358 | MONDO:equivalentTo | mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 4a | | MONDO:0014471 | | MONDO:0957255 | mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 7 | OMIM:620359 | MONDO:equivalentTo | mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 7 | | MONDO:0014471 | -| MONDO:0957256 | tprx2 | OMIM:620360 | MONDO:equivalentTo | TPRX2 | | | -| MONDO:0957257 | rnu5d-1 | OMIM:620361 | MONDO:equivalentTo | RNU5D-1 | | | -| MONDO:0957258 | rnu5e-1 | OMIM:620362 | MONDO:equivalentTo | RNU5E-1 | | | -| MONDO:0957259 | rnu5f-1 | OMIM:620363 | MONDO:equivalentTo | RNU5F-1 | | | | MONDO:0957260 | combined low ldl and fibrinogen | OMIM:620364 | MONDO:equivalentTo | combined low ldl and fibrinogen | | | | MONDO:0957261 | pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 | OMIM:620365 | MONDO:equivalentTo | pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 | | MONDO:0000148 | | MONDO:0957262 | osteopetrosis, autosomal recessive 9 | OMIM:620366 | MONDO:equivalentTo | osteopetrosis, autosomal recessive 9 | | MONDO:0019026 | @@ -76,51 +42,22 @@ | MONDO:0957266 | recon progeroid syndrome | OMIM:620370 | MONDO:equivalentTo | recon progeroid syndrome | | | | MONDO:0957267 | neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity | OMIM:620371 | MONDO:equivalentTo | neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity | | | | MONDO:0957268 | hypersulfaturia | OMIM:620372 | MONDO:equivalentTo | hypersulfaturia | | | -| MONDO:0957269 | adissp | OMIM:620373 | MONDO:equivalentTo | ADISSP | | | | MONDO:0957270 | myopathy, limb-girdle, adult-onset | OMIM:620375 | MONDO:equivalentTo | myopathy, limb-girdle, adult-onset | | | | MONDO:0957271 | autoinflammatory disease, systemic, with vasculitis | OMIM:620376 | MONDO:equivalentTo | autoinflammatory disease, systemic, with vasculitis | | | -| MONDO:0957272 | armc12 | OMIM:620377 | MONDO:equivalentTo | ARMC12 | | | | MONDO:0957273 | charcot-marie-tooth disease, dominant intermediate a | OMIM:620378 | MONDO:equivalentTo | charcot-marie-tooth disease, dominant intermediate a | | | | MONDO:0957274 | spastic paraplegia 89, autosomal recessive | OMIM:620379 | MONDO:equivalentTo | spastic paraplegia 89, autosomal recessive | | MONDO:0019064 | -| MONDO:0957275 | letm2 | OMIM:620380 | MONDO:equivalentTo | LETM2 | | | -| MONDO:0957276 | cfap61 | OMIM:620381 | MONDO:equivalentTo | CFAP61 | | | -| MONDO:0957277 | zcchc9 | OMIM:620382 | MONDO:equivalentTo | ZCCHC9 | | | | MONDO:0957278 | oocyte/zygote/embryo maturation arrest 20 | OMIM:620383 | MONDO:equivalentTo | oocyte/zygote/embryo maturation arrest 20 | | MONDO:0014769 | | MONDO:0957279 | auditory neuropathy, autosomal dominant 2 | OMIM:620384 | MONDO:equivalentTo | auditory neuropathy, autosomal dominant 2 | | | -| MONDO:0957280 | armc1 | OMIM:620385 | MONDO:equivalentTo | ARMC1 | | | | MONDO:0957281 | nemaline myopathy 5b, autosomal recessive, childhood-onset | OMIM:620386 | MONDO:equivalentTo | nemaline myopathy 5b, autosomal recessive, childhood-onset | | MONDO:0018958 | -| MONDO:0957282 | tbc1d21 | OMIM:620387 | MONDO:equivalentTo | TBC1D21 | | | -| MONDO:0957283 | dbndd1 | OMIM:620388 | MONDO:equivalentTo | DBNDD1 | | | | MONDO:0957284 | nemaline myopathy 5c, autosomal dominant | OMIM:620389 | MONDO:equivalentTo | nemaline myopathy 5c, autosomal dominant | | MONDO:0018958 | -| MONDO:0957285 | heatr1 | OMIM:620390 | MONDO:equivalentTo | HEATR1 | | | -| MONDO:0957286 | parp16 | OMIM:620391 | MONDO:equivalentTo | PARP16 | | | -| MONDO:0957287 | abitram | OMIM:620392 | MONDO:equivalentTo | ABITRAM | | | | MONDO:0957288 | intellectual developmental disorder, autosomal recessive 79 | OMIM:620393 | MONDO:equivalentTo | intellectual developmental disorder, autosomal recessive 79 | | MONDO:0019502 | -| MONDO:0957289 | pskh2 | OMIM:620394 | MONDO:equivalentTo | PSKH2 | | | -| MONDO:0957290 | ccnj | OMIM:620395 | MONDO:equivalentTo | CCNJ | | | -| MONDO:0957291 | ccnp | OMIM:620396 | MONDO:equivalentTo | CCNP | | | -| MONDO:0957292 | aunip | OMIM:620397 | MONDO:equivalentTo | AUNIP | | | -| MONDO:0957293 | adck1 | OMIM:620399 | MONDO:equivalentTo | ADCK1 | | | | MONDO:0957294 | pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9 | OMIM:620400 | MONDO:equivalentTo | pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9 | | MONDO:0000148 | -| MONDO:0957295 | inka2 | OMIM:620403 | MONDO:equivalentTo | INKA2 | | | -| MONDO:0957296 | csrnp2 | OMIM:620404 | MONDO:equivalentTo | CSRNP2 | | | -| MONDO:0957297 | csrnp3 | OMIM:620405 | MONDO:equivalentTo | CSRNP3 | | | -| MONDO:0957298 | mcts2 | OMIM:620406 | MONDO:equivalentTo | MCTS2 | | | -| MONDO:0957299 | mimt1 | OMIM:620407 | MONDO:equivalentTo | MIMT1 | | | -| MONDO:0957300 | mir337 | OMIM:620408 | MONDO:equivalentTo | MIR337 | | | | MONDO:0957301 | spermatogenic failure 84 | OMIM:620409 | MONDO:equivalentTo | spermatogenic failure 84 | | MONDO:0004983 | | MONDO:0957302 | low density lipoprotein cholesterol level quantitative trait locus 3 | OMIM:620410 | MONDO:equivalentTo | low density lipoprotein cholesterol level quantitative trait locus 3 | | | | MONDO:0957303 | palmoplantar keratoderma, epidermolytic, 2 | OMIM:620411 | MONDO:equivalentTo | palmoplantar keratoderma, epidermolytic, 2 | | | -| MONDO:0957304 | nama | OMIM:620412 | MONDO:equivalentTo | NAMA | | | -| MONDO:0957305 | gask1a | OMIM:620413 | MONDO:equivalentTo | GASK1A | | | -| MONDO:0957306 | sbk2 | OMIM:620414 | MONDO:equivalentTo | SBK2 | | | | MONDO:0957307 | woolly hair-skin fragility syndrome | OMIM:620415 | MONDO:equivalentTo | woolly hair-skin fragility syndrome | | | | MONDO:0957308 | spastic paraplegia 90a, autosomal dominant | OMIM:620416 | MONDO:equivalentTo | spastic paraplegia 90a, autosomal dominant | | MONDO:0019064 | | MONDO:0957309 | spastic paraplegia 90b, autosomal recessive | OMIM:620417 | MONDO:equivalentTo | spastic paraplegia 90b, autosomal recessive | | MONDO:0019064 | -| MONDO:0957310 | nrir | OMIM:620418 | MONDO:equivalentTo | NRIR | | | -| MONDO:0957311 | ccni2 | OMIM:620419 | MONDO:equivalentTo | CCNI2 | | | -| MONDO:0957312 | higd1b | OMIM:620420 | MONDO:equivalentTo | HIGD1B | | | -| MONDO:0957313 | dcaf4l2 | OMIM:620421 | MONDO:equivalentTo | DCAF4L2 | | | | MONDO:0957314 | retinitis pigmentosa 97 | OMIM:620422 | MONDO:equivalentTo | retinitis pigmentosa 97 | | | | MONDO:0957315 | basal cell nevus syndrome | OMIMPS:109400 | MONDO:equivalentTo | Basal cell nevus syndrome | | | | MONDO:0957316 | epidermolytic hyperkeratosis | OMIMPS:113800 | MONDO:equivalentTo | Epidermolytic hyperkeratosis | | | diff --git a/docs/reports/migrate_ordo.md b/docs/reports/migrate_ordo.md index deec766f..e4e6c7de 100644 --- a/docs/reports/migrate_ordo.md +++ b/docs/reports/migrate_ordo.md @@ -2,76 +2,41 @@ [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 | -|:--------------|:-------------------------------------------------------------------------------|:---------------------|:---------------------------|:-------------------------------------------------------------------------------|:------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------|:------------------------------------------| -| ID | LABEL | A oboInOwl:hasDbXref | >A oboInOwl:source SPLIT=| | | A IAO:0000115 | SC % | -| MONDO:0956999 | genetic hyperpigmentation of the skin | Orphanet:183466 | MONDO:equivalentTo | Genetic hyperpigmentation of the skin | | MONDO:8000033|MONDO:0026157 | -| MONDO:0957000 | genetic hypopigmentation of the skin | Orphanet:183469 | MONDO:equivalentTo | Genetic hypopigmentation of the skin | | MONDO:8000033|MONDO:0026157 | -| MONDO:0957001 | genetic mixed dermis disorder | Orphanet:183481 | MONDO:equivalentTo | Genetic mixed dermis disorder | | MONDO:8000033|MONDO:0026160 | -| MONDO:0957002 | genetic lens and zonula anomaly | Orphanet:183607 | MONDO:equivalentTo | Genetic lens and zonula anomaly | | MONDO:8000033 | -| MONDO:0957003 | genetic neuro-ophthalmological disease | Orphanet:183616 | MONDO:equivalentTo | Genetic neuro-ophthalmological disease | | MONDO:8000033|MONDO:0035037 | -| MONDO:0957004 | prediction of resistance to clopidogrel | Orphanet:240935 | MONDO:equivalentTo | Prediction of resistance to clopidogrel | | MONDO:8000034|MONDO:0032014 | -| MONDO:0957005 | prediction of resistance to tamoxifene | Orphanet:240947 | MONDO:equivalentTo | Prediction of resistance to tamoxifene | | MONDO:8000034|MONDO:0032014 | -| MONDO:0957006 | tacrolimus dose selection | Orphanet:241043 | MONDO:equivalentTo | Tacrolimus dose selection | | MONDO:8000034|MONDO:0032014 | -| MONDO:0957007 | gestational trophoblastic disease | Orphanet:254685 | MONDO:equivalentTo | Gestational trophoblastic disease | | MONDO:0020037|MONDO:8000033 | -| MONDO:0957008 | genetic cerebral malformation | Orphanet:269553 | MONDO:equivalentTo | Genetic cerebral malformation | | MONDO:8000033 | -| MONDO:0957009 | genetic posterior fossa malformation | Orphanet:269557 | MONDO:equivalentTo | Genetic posterior fossa malformation | | MONDO:8000033 | -| MONDO:0957011 | genetic syndrome with a cerebellar malformation as a major feature | Orphanet:269567 | MONDO:equivalentTo | Genetic syndrome with a cerebellar malformation as a major feature | | MONDO:8000033 | -| MONDO:0957013 | rare pediatric vasculitis | Orphanet:280369 | MONDO:equivalentTo | Rare pediatric vasculitis | | MONDO:8000033|MONDO:0029014 | -| MONDO:0957014 | prediction of response to antiviral treatment in hepatitis c | Orphanet:284102 | MONDO:equivalentTo | Prediction of response to antiviral treatment in hepatitis C | | MONDO:8000034|MONDO:0032014 | -| MONDO:0957015 | prediction of toxicity or absent response to clozapine | Orphanet:284121 | MONDO:equivalentTo | Prediction of toxicity or absent response to clozapine | | MONDO:8000034|MONDO:0032014 | -| MONDO:0957016 | complication after organ transplantation | Orphanet:306644 | MONDO:equivalentTo | Complication after organ transplantation | | MONDO:0035426|MONDO:8000034|MONDO:0032014 | -| MONDO:0957017 | selection of therapeutic option in aids | Orphanet:319269 | MONDO:equivalentTo | Selection of therapeutic option in AIDS | | MONDO:8000034|MONDO:0032014 | -| MONDO:0957018 | autoinflammatory syndrome of childhood | Orphanet:319719 | MONDO:equivalentTo | Autoinflammatory syndrome of childhood | | MONDO:8000033 | -| MONDO:0957024 | genetic 46,xx disorder of sex development | Orphanet:325697 | MONDO:equivalentTo | Genetic 46,XX disorder of sex development | | MONDO:8000033|MONDO:0031016 | -| MONDO:0957025 | genetic 46,xy disorder of sex development | Orphanet:325706 | MONDO:equivalentTo | Genetic 46,XY disorder of sex development | | MONDO:8000033|MONDO:0031016 | -| MONDO:0957027 | selection of therapeutic option in non-small cell lung carcinoma | Orphanet:357191 | MONDO:equivalentTo | Selection of therapeutic option in non-small cell lung carcinoma | | MONDO:8000034|MONDO:0032014 | -| MONDO:0957028 | selection of therapeutic option in colorectal cancer | Orphanet:357194 | MONDO:equivalentTo | Selection of therapeutic option in colorectal cancer | | MONDO:8000034|MONDO:0032014 | -| MONDO:0957029 | genetic non-syndromic renal or urinary tract malformation | Orphanet:357506 | MONDO:equivalentTo | Genetic non-syndromic renal or urinary tract malformation | | MONDO:8000033|MONDO:0026181 | -| MONDO:0957030 | prediction of resistance to bleomycine in the treatment of testicular cancer | Orphanet:364195 | MONDO:equivalentTo | Prediction of resistance to bleomycine in the treatment of testicular cancer | | MONDO:8000034|MONDO:0032014 | -| MONDO:0957031 | genetic syndrome with limb reduction defects | Orphanet:404574 | MONDO:equivalentTo | Genetic syndrome with limb reduction defects | | MONDO:8000033|MONDO:0018455 | -| MONDO:0957032 | prediction of toxicity or dose selection of antidepressants or antipsychotics | Orphanet:413667 | MONDO:equivalentTo | Prediction of toxicity or dose selection of antidepressants or antipsychotics | | MONDO:8000034|MONDO:0032014 | -| MONDO:0957033 | prediction of toxicity or dose selection of vitamin k antagonists | Orphanet:413674 | MONDO:equivalentTo | Prediction of toxicity or dose selection of vitamin K antagonists | | MONDO:8000034|MONDO:0032014 | -| MONDO:0957034 | prediction of toxicity or dose selection of oral antidiabetic drugs | Orphanet:413681 | MONDO:equivalentTo | Prediction of toxicity or dose selection of oral antidiabetic drugs | | MONDO:8000034|MONDO:0032014 | -| MONDO:0957035 | prediction of resistance to vitamin k antagonists | Orphanet:413684 | MONDO:equivalentTo | Prediction of resistance to vitamin K antagonists | | MONDO:8000034|MONDO:0032014 | -| MONDO:0957036 | prediction of toxicity or dose selection of thiopurine drugs | Orphanet:413687 | MONDO:equivalentTo | Prediction of toxicity or dose selection of thiopurine drugs | | MONDO:8000034|MONDO:0032014 | -| MONDO:0957037 | genetic primary orthostatic hypotension | Orphanet:448426 | MONDO:equivalentTo | Genetic primary orthostatic hypotension | | MONDO:8000033|MONDO:0035013 | -| MONDO:0957038 | antibiotic therapy dose selection | Orphanet:449306 | MONDO:equivalentTo | Antibiotic therapy dose selection | | MONDO:8000034|MONDO:0032014 | -| MONDO:0957040 | rare disorder of the ocular adnexa | Orphanet:519266 | MONDO:equivalentTo | Rare disorder of the ocular adnexa | | MONDO:8000033|MONDO:0035001 | -| MONDO:0957041 | rare corneal disorder | Orphanet:519282 | MONDO:equivalentTo | Rare corneal disorder | | MONDO:8000033 | -| MONDO:0957042 | rare disorder of the pupil | Orphanet:519286 | MONDO:equivalentTo | Rare disorder of the pupil | | MONDO:8000033 | -| MONDO:0957046 | rare scleral disorder | Orphanet:519298 | MONDO:equivalentTo | Rare scleral disorder | | MONDO:8000033|MONDO:0035037|MONDO:0035001 | -| MONDO:0957048 | isolated macular dystrophy | Orphanet:519302 | MONDO:equivalentTo | Isolated macular dystrophy | | MONDO:8000033 | -| MONDO:0957049 | rare choroidal disorder | Orphanet:519309 | MONDO:equivalentTo | Rare choroidal disorder | | MONDO:8000033 | -| MONDO:0957051 | rare retinal disorder | Orphanet:519315 | MONDO:equivalentTo | Rare retinal disorder | | MONDO:8000033 | -| MONDO:0957056 | rare optic nerve disorder | Orphanet:519351 | MONDO:equivalentTo | Rare optic nerve disorder | | MONDO:8000033|MONDO:0034965 | -| MONDO:0957067 | rare genetic disorder of the ocular adnexa | Orphanet:522524 | MONDO:equivalentTo | Rare genetic disorder of the ocular adnexa | | MONDO:8000033|MONDO:0035037 | -| MONDO:0957073 | anterior segment developmental anomaly of genetic origin | Orphanet:522540 | MONDO:equivalentTo | Anterior segment developmental anomaly of genetic origin | | MONDO:8000033|MONDO:0026186 | -| MONDO:0957074 | rare genetic disorder with conjunctival involvement as a major feature | Orphanet:522542 | MONDO:equivalentTo | Rare genetic disorder with conjunctival involvement as a major feature | | MONDO:8000033 | -| MONDO:0957080 | rare genetic corneal disorder | Orphanet:522556 | MONDO:equivalentTo | Rare genetic corneal disorder | | MONDO:8000033 | -| MONDO:0957086 | rare genetic disorder of the pupil | Orphanet:522568 | MONDO:equivalentTo | Rare genetic disorder of the pupil | | MONDO:8000033 | -| MONDO:0957087 | rare genetic retinal disorder | Orphanet:522572 | MONDO:equivalentTo | Rare genetic retinal disorder | | MONDO:8000033 | -| MONDO:0957090 | rare genetic choroidal disorder | Orphanet:522584 | MONDO:equivalentTo | Rare genetic choroidal disorder | | MONDO:8000033 | -| MONDO:0957091 | pediatric-onset glaucoma | Orphanet:523000 | MONDO:equivalentTo | Pediatric-onset glaucoma | | MONDO:8000033 | -| MONDO:0957092 | prediction of resistance to colchicine | Orphanet:529825 | MONDO:equivalentTo | Prediction of resistance to colchicine | | MONDO:8000034|MONDO:0032014 | -| MONDO:0957093 | prediction of enzalutamide toxicity | Orphanet:529828 | MONDO:equivalentTo | Prediction of enzalutamide toxicity | | MONDO:8000034|MONDO:0032014 | -| MONDO:0957094 | selection of therapeutic option in melanoma | Orphanet:544260 | MONDO:equivalentTo | Selection of therapeutic option in melanoma | | MONDO:8000034|MONDO:0032014 | -| MONDO:0957095 | prediction of response to monoclonal antibody treatment | Orphanet:562522 | MONDO:equivalentTo | Prediction of response to monoclonal antibody treatment | | MONDO:8000034|MONDO:0032014 | -| MONDO:0957096 | methotrexate dose selection | Orphanet:565785 | MONDO:equivalentTo | Methotrexate dose selection | | MONDO:8000034|MONDO:0032014 | -| MONDO:0957097 | genetic hemolytic uremic syndrome | Orphanet:576742 | MONDO:equivalentTo | Genetic hemolytic uremic syndrome | | MONDO:8000033|MONDO:0026193|MONDO:0015910 | -| MONDO:0957098 | prediction of toxicity or dose selection of eliglustat | Orphanet:596747 | MONDO:equivalentTo | Prediction of toxicity or dose selection of eliglustat | | MONDO:8000034|MONDO:0032014 | -| MONDO:0957099 | rare disorder related to monochorionic twin pregnancy | Orphanet:617307 | MONDO:equivalentTo | Rare disorder related to monochorionic twin pregnancy | | MONDO:8000033|MONDO:0015582 | -| MONDO:0957102 | prediction of sensitivity to immunosuppressive drugs in myelodysplasia | Orphanet:618569 | MONDO:equivalentTo | Prediction of sensitivity to immunosuppressive drugs in myelodysplasia | | MONDO:8000034|MONDO:0032014 | -| MONDO:0957103 | selection of therapeutic option in ovarian cancer | Orphanet:618572 | MONDO:equivalentTo | Selection of therapeutic option in ovarian cancer | | MONDO:8000034|MONDO:0032014 | -| MONDO:0957104 | selection of immunotherapy in solid cancer | Orphanet:619246 | MONDO:equivalentTo | Selection of immunotherapy in solid cancer | | MONDO:8000034|MONDO:0032014 | -| MONDO:0957105 | rare hereditary connective tissue disease | Orphanet:619249 | MONDO:equivalentTo | Rare hereditary connective tissue disease | | MONDO:8000033|MONDO:0028795 | -| MONDO:0957106 | prediction of antihistamines toxicity | Orphanet:619277 | MONDO:equivalentTo | Prediction of antihistamines toxicity | | MONDO:8000034|MONDO:0032014 | -| MONDO:0957107 | genetic autoinflammatory syndrome with skin involvement | Orphanet:622720 | MONDO:equivalentTo | Genetic autoinflammatory syndrome with skin involvement | | MONDO:0019043|MONDO:8000033 | -| MONDO:0957108 | rare andrological tumor | Orphanet:626609 | MONDO:equivalentTo | Rare andrological tumor | | MONDO:0020031|MONDO:8000033 | -| MONDO:0957109 | split cord malformation, composite type | Orphanet:633076 | MONDO:equivalentTo | Split cord malformation, composite type | | MONDO:0035542|MONDO:8000031 | -| MONDO:0957110 | moderate and severe traumatic brain injury | Orphanet:90056 | MONDO:equivalentTo | Moderate and severe traumatic brain injury | A rare neurologic condition characterized by brain damage caused by an external mechanical force, with a Glasgow Coma Scale score of 9 to 12 in moderate traumatic brain injury (TBI), or 3 to 8 in severe TBI, respectively. TBI can be closed (with the dura mater remaining intact) or open (with penetration of the dura mater) and may lead to focal damage, such as cerebral contusion and hemorrhage, as well as diffuse axonal injury and secondary damage due to increased intracranial pressure. Signs and symptoms are highly variable, depending on the nature, severity, localization, and extent of the trauma. | MONDO:8000034|MONDO:0020009|MONDO:0032014 | -| MONDO:0957111 | neurological muscular channelopathy due to a genetic sodium channel defect | Orphanet:98738 | MONDO:equivalentTo | Neurological muscular channelopathy due to a genetic sodium channel defect | | MONDO:8000033 | -| MONDO:0957112 | neurological muscular channelopathy due to a genetic chloride channel defect | Orphanet:98739 | MONDO:equivalentTo | Neurological muscular channelopathy due to a genetic chloride channel defect | | MONDO:8000033 | -| MONDO:0957113 | neurological muscular channelopathy due to a genetic calcium channel defect | Orphanet:98740 | MONDO:equivalentTo | Neurological muscular channelopathy due to a genetic calcium channel defect | | MONDO:8000033 | -| MONDO:0957114 | neurological muscular channelopathy due to a genetic potassium channel defect | Orphanet:98741 | MONDO:equivalentTo | Neurological muscular channelopathy due to a genetic potassium channel defect | | MONDO:8000033 | -| MONDO:0957115 | neurological muscular channelopathy due to a genetic ryanodine receptor defect | Orphanet:98742 | MONDO:equivalentTo | Neurological muscular channelopathy due to a genetic ryanodine receptor defect | | MONDO:8000033 | \ 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 % | +| MONDO:0957001 | genetic mixed dermis disorder | Orphanet:183481 | MONDO:equivalentTo | Genetic mixed dermis disorder | | MONDO:8000033|MONDO:0026160 | +| MONDO:0957003 | genetic neuro-ophthalmological disease | Orphanet:183616 | MONDO:equivalentTo | Genetic neuro-ophthalmological disease | | MONDO:8000033|MONDO:0035037 | +| MONDO:0957007 | gestational trophoblastic disease | Orphanet:254685 | MONDO:equivalentTo | Gestational trophoblastic disease | | MONDO:0020037|MONDO:8000033 | +| MONDO:0957008 | genetic cerebral malformation | Orphanet:269553 | MONDO:equivalentTo | Genetic cerebral malformation | | MONDO:8000033 | +| MONDO:0957009 | genetic posterior fossa malformation | Orphanet:269557 | MONDO:equivalentTo | Genetic posterior fossa malformation | | MONDO:8000033 | +| MONDO:0957016 | complication after organ transplantation | Orphanet:306644 | MONDO:equivalentTo | Complication after organ transplantation | | MONDO:0035426|MONDO:8000034|MONDO:0032014 | +| MONDO:0957018 | autoinflammatory syndrome of childhood | Orphanet:319719 | MONDO:equivalentTo | Autoinflammatory syndrome of childhood | | MONDO:8000033 | +| MONDO:0957024 | genetic 46,xx disorder of sex development | Orphanet:325697 | MONDO:equivalentTo | Genetic 46,XX disorder of sex development | | MONDO:8000033|MONDO:0031016 | +| MONDO:0957025 | genetic 46,xy disorder of sex development | Orphanet:325706 | MONDO:equivalentTo | Genetic 46,XY disorder of sex development | | MONDO:8000033|MONDO:0031016 | +| MONDO:0957037 | genetic primary orthostatic hypotension | Orphanet:448426 | MONDO:equivalentTo | Genetic primary orthostatic hypotension | | MONDO:8000033|MONDO:0035013 | +| MONDO:0957048 | isolated macular dystrophy | Orphanet:519302 | MONDO:equivalentTo | Isolated macular dystrophy | | MONDO:8000033 | +| MONDO:0957097 | genetic hemolytic uremic syndrome | Orphanet:576742 | MONDO:equivalentTo | Genetic hemolytic uremic syndrome | | MONDO:8000033|MONDO:0026193|MONDO:0015910 | +| MONDO:0957111 | neurological muscular channelopathy due to a genetic sodium channel defect | Orphanet:98738 | MONDO:equivalentTo | Neurological muscular channelopathy due to a genetic sodium channel defect | | MONDO:8000033 | +| MONDO:0957112 | neurological muscular channelopathy due to a genetic chloride channel defect | Orphanet:98739 | MONDO:equivalentTo | Neurological muscular channelopathy due to a genetic chloride channel defect | | MONDO:8000033 | +| MONDO:0957113 | neurological muscular channelopathy due to a genetic calcium channel defect | Orphanet:98740 | MONDO:equivalentTo | Neurological muscular channelopathy due to a genetic calcium channel defect | | MONDO:8000033 | +| MONDO:0957114 | neurological muscular channelopathy due to a genetic potassium channel defect | Orphanet:98741 | MONDO:equivalentTo | Neurological muscular channelopathy due to a genetic potassium channel defect | | MONDO:8000033 | +| MONDO:0957115 | neurological muscular channelopathy due to a genetic ryanodine receptor defect | Orphanet:98742 | MONDO:equivalentTo | Neurological muscular channelopathy due to a genetic ryanodine receptor defect | | MONDO:8000033 | +| MONDO:0957334 | genetic syndrome with a dandy-walker malformation as a major feature | Orphanet:269570 | MONDO:equivalentTo | Genetic syndrome with a Dandy-Walker malformation as a major feature | | MONDO:8000033 | +| MONDO:0957335 | rare disorder with corneal involvement as a major feature | Orphanet:519288 | MONDO:equivalentTo | Rare disorder with corneal involvement as a major feature | | MONDO:8000033 | +| MONDO:0957336 | rare disorder with pigmented sclera | Orphanet:519296 | MONDO:equivalentTo | Rare disorder with pigmented sclera | | MONDO:8000033 | +| MONDO:0957337 | isolated chorioretinal dystrophy | Orphanet:519300 | MONDO:equivalentTo | Isolated chorioretinal dystrophy | | MONDO:8000033 | +| MONDO:0957338 | rare macular disorder | Orphanet:519313 | MONDO:equivalentTo | Rare macular disorder | | MONDO:8000033 | +| MONDO:0957339 | rare retinal vasculopathy | Orphanet:519317 | MONDO:equivalentTo | Rare retinal vasculopathy | | MONDO:8000033 | +| MONDO:0957340 | syndromic chorioretinal dystrophy | Orphanet:519321 | MONDO:equivalentTo | Syndromic chorioretinal dystrophy | | MONDO:8000033 | +| MONDO:0957341 | secondary early-onset glaucoma | Orphanet:519331 | MONDO:equivalentTo | Secondary early-onset glaucoma | | MONDO:8000033 | +| MONDO:0957342 | rare genetic palpebral disorder | Orphanet:522526 | MONDO:equivalentTo | Rare genetic palpebral disorder | | MONDO:8000033|MONDO:0026186 | +| MONDO:0957343 | rare genetic disorder of the lacrimal apparatus | Orphanet:522532 | MONDO:equivalentTo | Rare genetic disorder of the lacrimal apparatus | | MONDO:8000033 | +| MONDO:0957344 | rare genetic disorder with lens opacification | Orphanet:522546 | MONDO:equivalentTo | Rare genetic disorder with lens opacification | | MONDO:8000033 | +| MONDO:0957345 | lens size anomaly of genetic origin | Orphanet:522550 | MONDO:equivalentTo | Lens size anomaly of genetic origin | | MONDO:8000033|MONDO:0026186 | +| MONDO:0957346 | lens position anomaly of genetic origin | Orphanet:522552 | MONDO:equivalentTo | Lens position anomaly of genetic origin | | MONDO:8000033|MONDO:0026186 | +| MONDO:0957347 | rare genetic disorder with corneal involvement as a major feature | Orphanet:522558 | MONDO:equivalentTo | Rare genetic disorder with corneal involvement as a major feature | | MONDO:8000033 | +| MONDO:0957348 | rare genetic macular disorder | Orphanet:522574 | MONDO:equivalentTo | Rare genetic macular disorder | | MONDO:8000033 | +| MONDO:0957349 | rare genetic retinal vasculopathy | Orphanet:522576 | MONDO:equivalentTo | Rare genetic retinal vasculopathy | | MONDO:8000033 | +| MONDO:0957350 | rare disorder due to unbalanced inter-twin blood transfusion | Orphanet:617310 | MONDO:equivalentTo | Rare disorder due to unbalanced inter-twin blood transfusion | | MONDO:8000033 | +| MONDO:0957351 | rare disorder due to inadequate sharing of the placenta | Orphanet:617313 | MONDO:equivalentTo | Rare disorder due to inadequate sharing of the placenta | | MONDO:8000033 | \ No newline at end of file diff --git a/docs/reports/unmapped.md b/docs/reports/unmapped.md index d763a7d3..c1302d63 100644 --- a/docs/reports/unmapped.md +++ b/docs/reports/unmapped.md @@ -5,8 +5,8 @@ | [ICD10CM](./unmapped_icd10cm.md) | 95,847 | 15,452 | 0 | 0 | 80,395 | 1,161 | 79,234 | 98.6% | | [NCIT](./unmapped_ncit.md) | 174,300 | 154,519 | 5,055 | 5,052 | 14,726 | 3,681 | 11,045 | 75.0% | | [GARD](./unmapped_gard.md) | 12,004 | 0 | 0 | 0 | 12,004 | 0 | 12,004 | 100.0% | -| [OMIM](./unmapped_omim.md) | 28,890 | 19,021 | 1,358 | 1,314 | 8,512 | 8,433 | 79 | 0.9% | -| [ORDO](./unmapped_ordo.md) | 10,866 | 1,773 | 1,418 | 1,305 | 9,093 | 9,029 | 64 | 0.7% | +| [OMIM](./unmapped_omim.md) | 28,890 | 19,021 | 1,358 | 1,314 | 8,512 | 8,434 | 78 | 0.9% | +| [ORDO](./unmapped_ordo.md) | 10,866 | 1,773 | 1,418 | 1,305 | 9,093 | 9,046 | 47 | 0.5% | | [DOID](./unmapped_doid.md) | 13,791 | 2,643 | 2,477 | 2,473 | 11,147 | 11,098 | 49 | 0.4% | `Ontology`: Name of ontology diff --git a/docs/reports/unmapped_omim.md b/docs/reports/unmapped_omim.md index e83bafb8..0b7e42b4 100644 --- a/docs/reports/unmapped_omim.md +++ b/docs/reports/unmapped_omim.md @@ -70,7 +70,6 @@ | OMIM:620354 | spermatogenic failure 83 | | OMIM:620409 | spermatogenic failure 84 | | OMIM:301106 | spermatogenic failure, x-linked, 7 | -| OMIM:620151 | wolman disease | | OMIM:620415 | woolly hair-skin fragility syndrome | | OMIMPS:109400 | | | OMIMPS:113800 | | diff --git a/docs/reports/unmapped_ordo.md b/docs/reports/unmapped_ordo.md index 742f9c5e..6b83c2ed 100644 --- a/docs/reports/unmapped_ordo.md +++ b/docs/reports/unmapped_ordo.md @@ -4,35 +4,18 @@ ### Unmapped mappable terms _(!excluded, !deprecated)_ | subject_id | subject_label | |:----------------|:---------------------------------------------------------------------------------------------| -| Orphanet:319719 | Autoinflammatory syndrome of childhood | -| Orphanet:306644 | Complication after organ transplantation | | Orphanet:522514 | Congenital optic disc excavation of genetic origin | | Orphanet:519337 | Disorder with optic nerve compression | -| Orphanet:325697 | Genetic 46,XX disorder of sex development | -| Orphanet:325706 | Genetic 46,XY disorder of sex development | | Orphanet:325713 | Genetic 46,XY disorder of sex development of endocrine origin | | Orphanet:269560 | Genetic cerebellar malformation | -| Orphanet:269553 | Genetic cerebral malformation | | Orphanet:522560 | Genetic corneal dystrophy | -| Orphanet:576742 | Genetic hemolytic uremic syndrome | -| Orphanet:183481 | Genetic mixed dermis disorder | -| Orphanet:183616 | Genetic neuro-ophthalmological disease | -| Orphanet:269557 | Genetic posterior fossa malformation | -| Orphanet:448426 | Genetic primary orthostatic hypotension | | Orphanet:522562 | Genetic superficial corneal dystrophy | | Orphanet:269570 | Genetic syndrome with a Dandy-Walker malformation as a major feature | -| Orphanet:254685 | Gestational trophoblastic disease | | Orphanet:324950 | Granulomatous autoinflammatory syndrome of childhood | | Orphanet:519300 | Isolated chorioretinal dystrophy | -| Orphanet:519302 | Isolated macular dystrophy | | Orphanet:522534 | Lacrimal drainage system anomaly of genetic origin | | Orphanet:522552 | Lens position anomaly of genetic origin | | Orphanet:522550 | Lens size anomaly of genetic origin | -| Orphanet:98740 | Neurological muscular channelopathy due to a genetic calcium channel defect | -| Orphanet:98739 | Neurological muscular channelopathy due to a genetic chloride channel defect | -| Orphanet:98741 | Neurological muscular channelopathy due to a genetic potassium channel defect | -| Orphanet:98742 | Neurological muscular channelopathy due to a genetic ryanodine receptor defect | -| Orphanet:98738 | Neurological muscular channelopathy due to a genetic sodium channel defect | | Orphanet:324939 | Periodic fever syndrome of childhood | | Orphanet:324942 | Pyogenic autoinflammatory syndrome of childhood | | Orphanet:617313 | Rare disorder due to inadequate sharing of the placenta | diff --git a/src/mappings/gard.sssom.tsv b/src/mappings/gard.sssom.tsv index 1f4a0a98..f4cb25d7 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/70aa8724-491f-4483-aebc-c8d506544c7d +# mapping_set_id: https://w3id.org/sssom/mappings/af487e42-5f62-42c1-965a-6bad36eac7a8 subject_id subject_label predicate_id object_id mapping_justification GARD:1 GRACILE syndrome skos:exactMatch Orphanet:53693 semapv:UnspecifiedMatching 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 3a067c22..17fd735b 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/654f4cb6-b529-4407-9889-12f1bf6420c4 +# mapping_set_id: https://w3id.org/sssom/mappings/5415289d-c981-42df-af99-2b20c4c9439c diff --git a/src/mappings/icd10who.sssom.tsv b/src/mappings/icd10who.sssom.tsv index a00a9d25..2bef07e2 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/1319340a-1af3-4d89-b5e1-2d4a7424e96b +# mapping_set_id: https://w3id.org/sssom/mappings/c4d36e1e-965b-40e9-a1b7-5220bd586c40 diff --git a/src/mappings/mondo-sources-all-lexical-2.sssom.tsv b/src/mappings/mondo-sources-all-lexical-2.sssom.tsv index 08f7b6a4..543d2301 100644 --- a/src/mappings/mondo-sources-all-lexical-2.sssom.tsv +++ b/src/mappings/mondo-sources-all-lexical-2.sssom.tsv @@ -15,7 +15,7 @@ # 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/d2f894fe-8a81-4cfc-acf1-1d8e05ebce1f +# mapping_set_id: https://w3id.org/sssom/mappings/b7dd9da3-c035-4d0b-a73c-781938793d6d subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string MONDO:0000001 disease skos:exactMatch NCIT:C156809 Medical Condition semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label medical condition MONDO:0000001 disease skos:exactMatch NCIT:C25457 Condition semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label condition @@ -10861,13 +10861,13 @@ MONDO:0009121 von Voss-Cherstvoy syndrome skos:closeMatch OMIM:223340 dk phocome MONDO:0009121 von Voss-Cherstvoy syndrome skos:closeMatch Orphanet:3439 Von Voss-Cherstvoy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:223340 MONDO:0009121 von Voss-Cherstvoy syndrome skos:closeMatch Orphanet:3439 Von Voss-Cherstvoy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857226 MONDO:0009121 von Voss-Cherstvoy syndrome skos:closeMatch Orphanet:3439 Von Voss-Cherstvoy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:223340 -MONDO:0009123 dopamine beta-hydroxylase deficiency skos:closeMatch OMIM:223360 orthostatic hypotension 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:230 -MONDO:0009123 dopamine beta-hydroxylase deficiency skos:closeMatch OMIM:223360 orthostatic hypotension 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dopamine beta-hydroxylase deficiency, congenital -MONDO:0009123 dopamine beta-hydroxylase deficiency skos:closeMatch Orphanet:230 Dopamine beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535600 -MONDO:0009123 dopamine beta-hydroxylase deficiency skos:closeMatch Orphanet:230 Dopamine beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535600 -MONDO:0009123 dopamine beta-hydroxylase deficiency skos:closeMatch Orphanet:230 Dopamine beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:223360 -MONDO:0009123 dopamine beta-hydroxylase deficiency skos:closeMatch Orphanet:230 Dopamine beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342687 -MONDO:0009123 dopamine beta-hydroxylase deficiency skos:closeMatch Orphanet:230 Dopamine beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:223360 +MONDO:0009123 orthostatic hypotension 1 skos:closeMatch OMIM:223360 orthostatic hypotension 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:230 +MONDO:0009123 orthostatic hypotension 1 skos:closeMatch OMIM:223360 orthostatic hypotension 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dopamine beta-hydroxylase deficiency, congenital +MONDO:0009123 orthostatic hypotension 1 skos:closeMatch Orphanet:230 Dopamine beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535600 +MONDO:0009123 orthostatic hypotension 1 skos:closeMatch Orphanet:230 Dopamine beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535600 +MONDO:0009123 orthostatic hypotension 1 skos:closeMatch Orphanet:230 Dopamine beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:223360 +MONDO:0009123 orthostatic hypotension 1 skos:closeMatch Orphanet:230 Dopamine beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342687 +MONDO:0009123 orthostatic hypotension 1 skos:closeMatch Orphanet:230 Dopamine beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:223360 MONDO:0009124 Dubowitz syndrome skos:closeMatch Orphanet:235 Dubowitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059589 MONDO:0009124 Dubowitz syndrome skos:closeMatch Orphanet:235 Dubowitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535718 MONDO:0009124 Dubowitz syndrome skos:closeMatch Orphanet:235 Dubowitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535718 @@ -19593,13 +19593,12 @@ MONDO:0010895 ABCD syndrome skos:closeMatch OMIM:600501 abcd syndrome semapv:Lex MONDO:0010896 pigment dispersion syndrome skos:closeMatch OMIM:600510 ocular pigment dispersion with or without glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma-related pigment dispersion syndrome MONDO:0010897 schizophrenia 3 skos:closeMatch OMIM:600511 schizophrenia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia 3 with or without an affective disorder MONDO:0010897 schizophrenia 3 skos:closeMatch OMIM:600511 schizophrenia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia susceptibility locus, chromosome 6-related -MONDO:0010898 Autosomal dominant epilepsy with auditory features skos:closeMatch OMIM:600512 epilepsy, familial temporal lobe, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial temporal lobe, 1 -MONDO:0010898 Autosomal dominant epilepsy with auditory features skos:closeMatch OMIM:600512 epilepsy, familial temporal lobe, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, lateral temporal lobe, autosomal dominant -MONDO:0010898 Autosomal dominant epilepsy with auditory features skos:closeMatch OMIM:600512 epilepsy, familial temporal lobe, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, partial, with auditory features -MONDO:0010898 Autosomal dominant epilepsy with auditory features skos:closeMatch OMIM:600512 epilepsy, familial temporal lobe, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial temporal lobe, 1 -MONDO:0010898 Autosomal dominant epilepsy with auditory features skos:closeMatch Orphanet:101046 Autosomal dominant epilepsy with auditory features semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838062 -MONDO:0010898 Autosomal dominant epilepsy with auditory features skos:closeMatch Orphanet:101046 Autosomal dominant epilepsy with auditory features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant epilepsy with auditory features -MONDO:0010898 Autosomal dominant epilepsy with auditory features skos:exactMatch NCIT:C141441 Autosomal Dominant Lateral Temporal Lobe Epilepsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant lateral temporal lobe epilepsy +MONDO:0010898 autosomal dominant epilepsy with auditory features skos:closeMatch OMIM:600512 epilepsy, familial temporal lobe, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial temporal lobe, 1 +MONDO:0010898 autosomal dominant epilepsy with auditory features skos:closeMatch OMIM:600512 epilepsy, familial temporal lobe, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, lateral temporal lobe, autosomal dominant +MONDO:0010898 autosomal dominant epilepsy with auditory features skos:closeMatch OMIM:600512 epilepsy, familial temporal lobe, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, partial, with auditory features +MONDO:0010898 autosomal dominant epilepsy with auditory features skos:closeMatch OMIM:600512 epilepsy, familial temporal lobe, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial temporal lobe, 1 +MONDO:0010898 autosomal dominant epilepsy with auditory features skos:closeMatch Orphanet:101046 Autosomal dominant epilepsy with auditory features semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838062 +MONDO:0010898 autosomal dominant epilepsy with auditory features skos:exactMatch NCIT:C141441 Autosomal Dominant Lateral Temporal Lobe Epilepsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant lateral temporal lobe epilepsy MONDO:0010899 autosomal dominant nocturnal frontal lobe epilepsy 1 skos:closeMatch OMIM:600513 epilepsy, nocturnal frontal lobe, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, nocturnal frontal lobe, 1 MONDO:0010899 autosomal dominant nocturnal frontal lobe epilepsy 1 skos:closeMatch OMIM:600513 epilepsy, nocturnal frontal lobe, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, nocturnal frontal lobe, 1 MONDO:0010899 autosomal dominant nocturnal frontal lobe epilepsy 1 skos:closeMatch Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600513 @@ -19909,9 +19908,6 @@ MONDO:0010973 autosomal dominant nonsyndromic hearing loss 5 skos:exactMatch OMI MONDO:0010974 nephrotic syndrome, type 2 skos:closeMatch OMIM:600995 nephrotic syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrotic syndrome, steroid-resistant, autosomal recessive MONDO:0010974 nephrotic syndrome, type 2 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600995 MONDO:0010974 nephrotic syndrome, type 2 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600995 -MONDO:0010975 arrhythmogenic right ventricular dysplasia 2 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600996 -MONDO:0010975 arrhythmogenic right ventricular dysplasia 2 skos:closeMatch Orphanet:293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600996 -MONDO:0010975 arrhythmogenic right ventricular dysplasia 2 skos:exactMatch OMIM:180902 RYR2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch MONDO:0010976 epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive skos:closeMatch Orphanet:89838 Autosomal recessive generalized epidermolysis bullosa simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601001 MONDO:0010976 epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive skos:closeMatch Orphanet:89838 Autosomal recessive generalized epidermolysis bullosa simplex semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601001 MONDO:0010977 Brody myopathy skos:closeMatch OMIM:601003 brody disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brody disease @@ -21978,8 +21974,11 @@ MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 skos:close MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 skos:closeMatch OMIM:604772 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventricular tachycardia, stress-induced polymorphic MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 skos:closeMatch OMIM:604772 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 skos:closeMatch OMIM:611938 ventricular tachycardia, catecholaminergic polymorphic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventricular tachycardia, stress-induced polymorphic +MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600996 +MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 skos:closeMatch Orphanet:293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600996 MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 skos:closeMatch Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604772 MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 skos:closeMatch Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604772 +MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 skos:exactMatch OMIM:180902 RYR2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch MONDO:0011485 autosomal recessive congenital ichthyosis 5 skos:closeMatch OMIM:604777 ichthyosis, congenital, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis congenita 3 MONDO:0011485 autosomal recessive congenital ichthyosis 5 skos:closeMatch OMIM:604777 ichthyosis, congenital, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive 5 MONDO:0011485 autosomal recessive congenital ichthyosis 5 skos:closeMatch OMIM:604777 ichthyosis, congenital, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, lamellar, 3, formerly @@ -39253,8 +39252,6 @@ MONDO:0019148 Wolman disease skos:closeMatch Orphanet:75233 Wolman disease semap MONDO:0019148 Wolman disease skos:closeMatch Orphanet:75233 Wolman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015223 MONDO:0019148 Wolman disease skos:closeMatch Orphanet:75233 Wolman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015223 MONDO:0019148 Wolman disease skos:closeMatch Orphanet:75233 Wolman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043208 -MONDO:0019148 Wolman disease skos:exactMatch OMIM:620151 wolman disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym wolman disease -MONDO:0019148 Wolman disease skos:exactMatch OMIM:620151 wolman disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wolman disease MONDO:0019149 cholesteryl ester storage disease skos:closeMatch Orphanet:75234 Cholesteryl ester storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008384 MONDO:0019149 cholesteryl ester storage disease skos:exactMatch OMIM:278000 cholesteryl ester storage disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cholesteryl ester storage disease MONDO:0019149 cholesteryl ester storage disease skos:exactMatch OMIM:278000 cholesteryl ester storage disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholesteryl ester storage disease diff --git a/src/mappings/ncit.sssom.tsv b/src/mappings/ncit.sssom.tsv index 31c5363e..08cbbc92 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/9fdfba83-e8d5-46b9-8a55-5b0043700106 +# mapping_set_id: https://w3id.org/sssom/mappings/301ee964-1b90-4cd1-8d2a-3ea29334127c subject_id subject_label predicate_id object_id mapping_justification NCIT:C12290 Mandible oboInOwl:hasDbXref UBERON:0001684 semapv:UnspecifiedMatching NCIT:C12298 Retroperitoneum oboInOwl:hasDbXref UBERON:0003693 semapv:UnspecifiedMatching diff --git a/src/mappings/omim.sssom.tsv b/src/mappings/omim.sssom.tsv index c2e23e6d..0c794c15 100644 --- a/src/mappings/omim.sssom.tsv +++ b/src/mappings/omim.sssom.tsv @@ -42656,4 +42656,8 @@ OMIM:620418 NRIR skos:exactMatch hgnc.symbol:NRIR semapv:UnspecifiedMatching OMIM:620418 NRIR skos:exactMatch ncbigene:104326052 semapv:UnspecifiedMatching OMIM:620419 CCNI2 skos:exactMatch hgnc.symbol:CCNI2 semapv:UnspecifiedMatching OMIM:620419 CCNI2 skos:exactMatch ncbigene:645121 semapv:UnspecifiedMatching +OMIM:620420 HIGD1B skos:exactMatch hgnc.symbol:HIGD1B semapv:UnspecifiedMatching +OMIM:620420 HIGD1B skos:exactMatch ncbigene:51751 semapv:UnspecifiedMatching +OMIM:620421 DCAF4L2 skos:exactMatch hgnc.symbol:DCAF4L2 semapv:UnspecifiedMatching +OMIM:620421 DCAF4L2 skos:exactMatch ncbigene:138009 semapv:UnspecifiedMatching diff --git a/src/ontology/imports/omo_import.owl b/src/ontology/imports/omo_import.owl index 950acde9..8f5b1eec 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 "2023-06-18") +Annotation(owl:versionInfo "2023-06-22") Declaration(Class()) Declaration(Class()) diff --git a/src/ontology/imports/ro_import.owl b/src/ontology/imports/ro_import.owl index e04e727e..13cb34cf 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 "2023-06-18") +Annotation(owl:versionInfo "2023-06-22") Declaration(Class()) Declaration(Class()) diff --git a/src/ontology/lexmatch/README.md b/src/ontology/lexmatch/README.md index 44b2cc28..763e6e9d 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): 5 * Number of mappings in [`unmapped_doid_mondo`](mondo-only/unmapped_doid_mondo.tsv): 76 * Number of mappings in [`unmapped_doid_mondo_exact`](mondo-only/unmapped_doid_mondo.tsv): 76 - * Number of mappings in [`unmapped_gard_lex`](unmapped_gard_lex.tsv): 11130 - * Number of mappings in [`unmapped_gard_lex_exact`](unmapped_gard_lex.tsv): 3032 + * Number of mappings in [`unmapped_gard_lex`](unmapped_gard_lex.tsv): 11146 + * Number of mappings in [`unmapped_gard_lex_exact`](unmapped_gard_lex.tsv): 3034 * Number of mappings in [`unmapped_gard_mondo`](mondo-only/unmapped_gard_mondo.tsv): 1 * Number of mappings in [`unmapped_gard_mondo_exact`](mondo-only/unmapped_gard_mondo.tsv): 1 * Number of mappings in [`unmapped_icd10cm_lex`](unmapped_icd10cm_lex.tsv): 1928 @@ -23,28 +23,28 @@ * Number of mappings in [`unmapped_ncit_lex_exact`](unmapped_ncit_lex.tsv): 39 * Number of mappings in [`unmapped_ncit_mondo`](mondo-only/unmapped_ncit_mondo.tsv): 2204 * Number of mappings in [`unmapped_ncit_mondo_exact`](mondo-only/unmapped_ncit_mondo.tsv): 1165 - * Number of mappings in [`unmapped_omim_lex`](unmapped_omim_lex.tsv): 3 + * Number of mappings in [`unmapped_omim_lex`](unmapped_omim_lex.tsv): 2 * Number of mappings in [`unmapped_omim_lex_exact`](unmapped_omim_lex.tsv): 2 * Number of mappings in [`unmapped_omim_mondo`](mondo-only/unmapped_omim_mondo.tsv): 1847 * Number of mappings in [`unmapped_omim_mondo_exact`](mondo-only/unmapped_omim_mondo.tsv): 962 ## mondo_XXXXmatch_ontology - * Number of mappings in [`mondo_closematch_doid`](split-mapping-set/mondo_closematch_doid.tsv): 9 - * Number of mappings in [`mondo_exactmatch_doid`](split-mapping-set/mondo_exactmatch_doid.tsv): 79 - * Number of mappings in [`mondo_broadmatch_doid`](split-mapping-set/mondo_broadmatch_doid.tsv): 1 - * Number of mappings in [`mondo_closematch_omim`](split-mapping-set/mondo_closematch_omim.tsv): 8 - * Number of mappings in [`mondo_exactmatch_omim`](split-mapping-set/mondo_exactmatch_omim.tsv): 1297 - * Number of mappings in [`mondo_closematch_ncit`](split-mapping-set/mondo_closematch_ncit.tsv): 72 - * Number of mappings in [`mondo_exactmatch_ncit`](split-mapping-set/mondo_exactmatch_ncit.tsv): 2277 - * Number of mappings in [`mondo_broadmatch_ncit`](split-mapping-set/mondo_broadmatch_ncit.tsv): 10 - * Number of mappings in [`mondo_closematch_gard`](split-mapping-set/mondo_closematch_gard.tsv): 35342 - * Number of mappings in [`mondo_exactmatch_gard`](split-mapping-set/mondo_exactmatch_gard.tsv): 11129 - * Number of mappings in [`mondo_broadmatch_gard`](split-mapping-set/mondo_broadmatch_gard.tsv): 244 + * Number of mappings in [`mondo_exactmatch_gard`](split-mapping-set/mondo_exactmatch_gard.tsv): 11145 * Number of mappings in [`mondo_narrowmatch_gard`](split-mapping-set/mondo_narrowmatch_gard.tsv): 116 - * Number of mappings in [`mondo_closematch_icd10cm`](split-mapping-set/mondo_closematch_icd10cm.tsv): 361 + * Number of mappings in [`mondo_broadmatch_gard`](split-mapping-set/mondo_broadmatch_gard.tsv): 244 + * Number of mappings in [`mondo_closematch_gard`](split-mapping-set/mondo_closematch_gard.tsv): 35351 * Number of mappings in [`mondo_exactmatch_icd10cm`](split-mapping-set/mondo_exactmatch_icd10cm.tsv): 1965 - * Number of mappings in [`mondo_broadmatch_icd10cm`](split-mapping-set/mondo_broadmatch_icd10cm.tsv): 82 * Number of mappings in [`mondo_narrowmatch_icd10cm`](split-mapping-set/mondo_narrowmatch_icd10cm.tsv): 58 - * Number of mappings in [`mondo_closematch_icd10who`](split-mapping-set/mondo_closematch_icd10who.tsv): 149 + * Number of mappings in [`mondo_broadmatch_icd10cm`](split-mapping-set/mondo_broadmatch_icd10cm.tsv): 82 + * Number of mappings in [`mondo_closematch_icd10cm`](split-mapping-set/mondo_closematch_icd10cm.tsv): 361 * Number of mappings in [`mondo_exactmatch_icd10who`](split-mapping-set/mondo_exactmatch_icd10who.tsv): 1215 - * Number of mappings in [`mondo_broadmatch_icd10who`](split-mapping-set/mondo_broadmatch_icd10who.tsv): 30 * Number of mappings in [`mondo_narrowmatch_icd10who`](split-mapping-set/mondo_narrowmatch_icd10who.tsv): 22 + * Number of mappings in [`mondo_broadmatch_icd10who`](split-mapping-set/mondo_broadmatch_icd10who.tsv): 30 + * Number of mappings in [`mondo_closematch_icd10who`](split-mapping-set/mondo_closematch_icd10who.tsv): 149 + * Number of mappings in [`mondo_exactmatch_omim`](split-mapping-set/mondo_exactmatch_omim.tsv): 1296 + * Number of mappings in [`mondo_closematch_omim`](split-mapping-set/mondo_closematch_omim.tsv): 6 + * Number of mappings in [`mondo_exactmatch_doid`](split-mapping-set/mondo_exactmatch_doid.tsv): 79 + * Number of mappings in [`mondo_broadmatch_doid`](split-mapping-set/mondo_broadmatch_doid.tsv): 1 + * Number of mappings in [`mondo_closematch_doid`](split-mapping-set/mondo_closematch_doid.tsv): 9 + * Number of mappings in [`mondo_exactmatch_ncit`](split-mapping-set/mondo_exactmatch_ncit.tsv): 2277 + * Number of mappings in [`mondo_broadmatch_ncit`](split-mapping-set/mondo_broadmatch_ncit.tsv): 10 + * Number of mappings in [`mondo_closematch_ncit`](split-mapping-set/mondo_closematch_ncit.tsv): 72 diff --git a/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo.tsv b/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo.tsv index f0dd8473..d120ba0e 100644 --- a/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo.tsv +++ b/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo.tsv @@ -76,7 +76,6 @@ MONDO:0001029 Klippel-Feil syndrome OMIMPS:118100 MONDO:equivalentTo semapv:Uns MONDO:0001115 familial polycythemia OMIMPS:133100 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0001347 facioscapulohumeral muscular dystrophy OMIMPS:158900 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0001384 myopia OMIMPS:160700 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0001549 hemolytic-uremic syndrome OMIMPS:235400 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0001676 erythropoietic protoporphyria OMIMPS:177000 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0001734 tuberous sclerosis OMIMPS:191100 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0002010 FG syndrome OMIMPS:305400 MONDO:equivalentTo semapv:UnspecifiedMatching @@ -572,6 +571,7 @@ MONDO:0017838 sclerosteosis OMIMPS:269500 MONDO:equivalentTo semapv:Unspecified MONDO:0017842 Senior-Loken syndrome OMIMPS:266900 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0017845 spastic ataxia OMIMPS:108600 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0017851 erythrokeratodermia variabilis OMIMPS:133200 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0017868 diencephalic-mesencephalic junction dysplasia OMIMPS:251280 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0017896 familial nonmedullary thyroid carcinoma OMIMPS:188550 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0017923 multiple synostoses syndrome OMIMPS:186500 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0017951 trichorhinophalangeal syndrome OMIMPS:190350 MONDO:equivalentTo semapv:UnspecifiedMatching @@ -842,7 +842,6 @@ MONDO:0032841 Usher syndrome, type 1M OMIM:618632 MONDO:equivalentTo usher syndr MONDO:0032865 pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 OMIM:618674 MONDO:equivalentTo pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 5 semapv:UnspecifiedMatching MONDO:0033196 obsolete skin/hair/eye pigmentation, variation in OMIMPS:227220 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0033203 nephrotic syndrome 14 OMIM:617575 MONDO:equivalentTo nephrotic syndrome, iia 14 semapv:UnspecifiedMatching -MONDO:0033211 diencephalic-mesencephalic junction dysplasia syndrome OMIMPS:251280 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0033262 nephrotic syndrome 15 OMIM:617609 MONDO:equivalentTo nephrotic syndrome, iia 15 semapv:UnspecifiedMatching MONDO:0033280 nephrotic syndrome 16 OMIM:617783 MONDO:equivalentTo nephrotic syndrome, iia 16 semapv:UnspecifiedMatching MONDO:0033304 nonsyndromic deafness, Y-linked OMIMPS:400043 MONDO:equivalentTo semapv:UnspecifiedMatching @@ -961,3 +960,4 @@ MONDO:0859524 hearing loss, autosomal dominant 86 OMIM:620280 MONDO:equivalentTo MONDO:0859525 hearing loss, autosomal dominant 87 OMIM:620281 MONDO:equivalentTo deafness, autosomal dominant 87 semapv:UnspecifiedMatching MONDO:0859527 hearing loss, autosomal dominant 88 OMIM:620283 MONDO:equivalentTo deafness, autosomal dominant 88 semapv:UnspecifiedMatching MONDO:0859528 hearing loss, autosomal dominant 89 OMIM:620284 MONDO:equivalentTo deafness, autosomal dominant 89 semapv:UnspecifiedMatching +MONDO:0957097 genetic hemolytic uremic syndrome OMIMPS:235400 MONDO:equivalentTo semapv:UnspecifiedMatching diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_gard.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_gard.tsv index 7b5e9cd5..3e04123d 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_gard.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_gard.tsv @@ -246,7 +246,6 @@ MONDO:0001444 Chagas disease skos:closeMatch GARD:18795 American trypanosomiasis MONDO:0001444 Chagas disease skos:closeMatch GARD:18795 American trypanosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label american trypanosomiasis LEXMATCH MONDO:0001549 hemolytic-uremic syndrome skos:closeMatch GARD:22233 Hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:544458 LEXMATCH MONDO:0001549 hemolytic-uremic syndrome skos:closeMatch GARD:22330 Genetic hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:576742 LEXMATCH -MONDO:0001549 hemolytic-uremic syndrome skos:closeMatch GARD:22330 Genetic hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 skos:narrowMatch skos:exactMatch orphanet:576742 LEXMATCH MONDO:0001569 acoustic neuroma skos:closeMatch GARD:223 Vestibular schwannoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:252175 LEXMATCH MONDO:0001586 mucopolysaccharidosis type 1 skos:closeMatch GARD:10335 Mucopolysaccharidosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:579 LEXMATCH MONDO:0001595 choreatic disease skos:closeMatch GARD:1305 Benign hereditary chorea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:1429 LEXMATCH @@ -5697,9 +5696,9 @@ MONDO:0009120 diverticulosis of bowel, hernia, and retinal detachment skos:close MONDO:0009121 von Voss-Cherstvoy syndrome skos:closeMatch GARD:1894 Von Voss-Cherstvoy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:3439 LEXMATCH MONDO:0009121 von Voss-Cherstvoy syndrome skos:closeMatch GARD:1894 Von Voss-Cherstvoy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:narrowMatch omim:223340 LEXMATCH MONDO:0009121 von Voss-Cherstvoy syndrome skos:closeMatch GARD:1894 Von Voss-Cherstvoy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:narrowMatch omim:223340 LEXMATCH -MONDO:0009123 dopamine beta-hydroxylase deficiency skos:closeMatch GARD:1903 Dopamine beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:230 LEXMATCH -MONDO:0009123 dopamine beta-hydroxylase deficiency skos:closeMatch GARD:1903 Dopamine beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:narrowMatch omim:223360 LEXMATCH -MONDO:0009123 dopamine beta-hydroxylase deficiency skos:closeMatch GARD:1903 Dopamine beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:narrowMatch omim:223360 LEXMATCH +MONDO:0009123 orthostatic hypotension 1 skos:closeMatch GARD:1903 Dopamine beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:230 LEXMATCH +MONDO:0009123 orthostatic hypotension 1 skos:closeMatch GARD:1903 Dopamine beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:narrowMatch omim:223360 LEXMATCH +MONDO:0009123 orthostatic hypotension 1 skos:closeMatch GARD:1903 Dopamine beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:narrowMatch omim:223360 LEXMATCH MONDO:0009124 Dubowitz syndrome skos:closeMatch GARD:6290 Dubowitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:235 LEXMATCH MONDO:0009124 Dubowitz syndrome skos:closeMatch GARD:6290 Dubowitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:narrowMatch omim:223370 LEXMATCH MONDO:0009124 Dubowitz syndrome skos:closeMatch GARD:6290 Dubowitz syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:narrowMatch omim:223370 LEXMATCH @@ -10820,12 +10819,11 @@ MONDO:0010894 maturity-onset diabetes of the young type 3 skos:closeMatch GARD:1 MONDO:0010894 maturity-onset diabetes of the young type 3 skos:closeMatch GARD:10658 Maturity-onset diabetes of the young, type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label maturity-onset diabetes of the young, type 3 LEXMATCH MONDO:0010894 maturity-onset diabetes of the young type 3 skos:closeMatch GARD:3697 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:narrowMatch omim:600496 LEXMATCH MONDO:0010894 maturity-onset diabetes of the young type 3 skos:closeMatch GARD:3697 MODY semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:narrowMatch omim:600496 LEXMATCH -MONDO:0010898 Autosomal dominant epilepsy with auditory features skos:closeMatch GARD:16112 Epilepsy, familial temporal lobe, 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch orphanet:101046 LEXMATCH -MONDO:0010898 Autosomal dominant epilepsy with auditory features skos:closeMatch GARD:16112 Epilepsy, familial temporal lobe, 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:broadMatch orphanet:101046 LEXMATCH -MONDO:0010898 Autosomal dominant epilepsy with auditory features skos:closeMatch GARD:16116 Epilepsy, familial temporal lobe, 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch orphanet:101046 LEXMATCH -MONDO:0010898 Autosomal dominant epilepsy with auditory features skos:closeMatch GARD:16116 Epilepsy, familial temporal lobe, 8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:broadMatch orphanet:101046 LEXMATCH -MONDO:0010898 Autosomal dominant epilepsy with auditory features skos:closeMatch GARD:2257 Autosomal dominant epilepsy with auditory features semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:101046 LEXMATCH -MONDO:0010898 Autosomal dominant epilepsy with auditory features skos:closeMatch GARD:2257 Autosomal dominant epilepsy with auditory features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant epilepsy with auditory features LEXMATCH +MONDO:0010898 autosomal dominant epilepsy with auditory features skos:closeMatch GARD:16112 Epilepsy, familial temporal lobe, 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch orphanet:101046 LEXMATCH +MONDO:0010898 autosomal dominant epilepsy with auditory features skos:closeMatch GARD:16112 Epilepsy, familial temporal lobe, 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:broadMatch orphanet:101046 LEXMATCH +MONDO:0010898 autosomal dominant epilepsy with auditory features skos:closeMatch GARD:16116 Epilepsy, familial temporal lobe, 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch orphanet:101046 LEXMATCH +MONDO:0010898 autosomal dominant epilepsy with auditory features skos:closeMatch GARD:16116 Epilepsy, familial temporal lobe, 8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:broadMatch orphanet:101046 LEXMATCH +MONDO:0010898 autosomal dominant epilepsy with auditory features skos:closeMatch GARD:2257 Autosomal dominant epilepsy with auditory features semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:101046 LEXMATCH MONDO:0010899 autosomal dominant nocturnal frontal lobe epilepsy 1 skos:closeMatch GARD:11918 Autosomal dominant nocturnal frontal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:narrowMatch omim:600513 LEXMATCH MONDO:0010899 autosomal dominant nocturnal frontal lobe epilepsy 1 skos:closeMatch GARD:11918 Autosomal dominant nocturnal frontal lobe epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:narrowMatch omim:600513 LEXMATCH MONDO:0010899 autosomal dominant nocturnal frontal lobe epilepsy 1 skos:closeMatch GARD:15319 Epilepsy, nocturnal frontal lobe, 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:600513 LEXMATCH @@ -11035,8 +11033,6 @@ MONDO:0010973 autosomal dominant nonsyndromic hearing loss 5 skos:closeMatch GAR MONDO:0010974 nephrotic syndrome, type 2 skos:closeMatch GARD:15326 Nephrotic syndrome, type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:600995 LEXMATCH MONDO:0010974 nephrotic syndrome, type 2 skos:closeMatch GARD:3946 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:narrowMatch omim:600995 LEXMATCH MONDO:0010974 nephrotic syndrome, type 2 skos:closeMatch GARD:3946 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:narrowMatch omim:600995 LEXMATCH -MONDO:0010975 arrhythmogenic right ventricular dysplasia 2 skos:closeMatch GARD:17129 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:narrowMatch omim:600996 LEXMATCH -MONDO:0010975 arrhythmogenic right ventricular dysplasia 2 skos:closeMatch GARD:17347 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:narrowMatch omim:600996 LEXMATCH MONDO:0010976 epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive skos:closeMatch GARD:16778 Autosomal recessive generalized epidermolysis bullosa simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:89838 LEXMATCH MONDO:0010976 epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive skos:closeMatch GARD:16778 Autosomal recessive generalized epidermolysis bullosa simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:narrowMatch omim:601001 LEXMATCH MONDO:0010976 epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive skos:closeMatch GARD:16778 Autosomal recessive generalized epidermolysis bullosa simplex semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:narrowMatch omim:601001 LEXMATCH @@ -12422,6 +12418,8 @@ MONDO:0011482 dilated cardiomyopathy 1I skos:closeMatch GARD:15372 Cardiomyopath MONDO:0011482 dilated cardiomyopathy 1I skos:closeMatch GARD:15372 Cardiomyopathy, dilated, 1i semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, 1i LEXMATCH MONDO:0011482 dilated cardiomyopathy 1I skos:closeMatch GARD:2905 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:narrowMatch omim:604765 LEXMATCH MONDO:0011482 dilated cardiomyopathy 1I skos:closeMatch GARD:2905 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:narrowMatch omim:604765 LEXMATCH +MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 skos:closeMatch GARD:17129 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:narrowMatch omim:600996 LEXMATCH +MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 skos:closeMatch GARD:17347 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:narrowMatch omim:600996 LEXMATCH MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 skos:closeMatch GARD:4421 Catecholaminergic polymorphic ventricular tachycardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:narrowMatch omim:604772 LEXMATCH MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 skos:closeMatch GARD:4421 Catecholaminergic polymorphic ventricular tachycardia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:narrowMatch omim:604772 LEXMATCH MONDO:0011485 autosomal recessive congenital ichthyosis 5 skos:closeMatch GARD:10803 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:narrowMatch omim:604777 LEXMATCH @@ -23582,7 +23580,6 @@ MONDO:0015366 autosomal recessive hereditary sensory and autonomic neuropathy sk MONDO:0015367 Charlie M syndrome skos:closeMatch GARD:1261 Charlie M syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:1406 LEXMATCH MONDO:0015368 neuro-ophthalmological disease skos:closeMatch GARD:19930 Neuro-ophthalmological disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:140653 LEXMATCH MONDO:0015368 neuro-ophthalmological disease skos:closeMatch GARD:20309 Genetic neuro-ophthalmological disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:183616 LEXMATCH -MONDO:0015368 neuro-ophthalmological disease skos:closeMatch GARD:20309 Genetic neuro-ophthalmological disease semapv:LexicalMatching oaklib 0.5 skos:narrowMatch skos:exactMatch orphanet:183616 LEXMATCH MONDO:0015369 Joubert syndrome and related disorders skos:closeMatch GARD:19931 Joubert syndrome and related disorders semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:140874 LEXMATCH MONDO:0015371 linear atrophoderma of Moulin skos:closeMatch GARD:19932 Linear atrophoderma of Moulin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:140933 LEXMATCH MONDO:0015372 autosomal dominant macrothrombocytopenia skos:closeMatch GARD:16965 Autosomal dominant macrothrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:140957 LEXMATCH @@ -24422,7 +24419,6 @@ MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without n MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:closeMatch GARD:180 MYH9-related disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:narrowMatch omim:155100 LEXMATCH MONDO:0015914 primary orthostatic hypotension skos:closeMatch GARD:12959 Primary orthostatic hypotension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:182058 LEXMATCH MONDO:0015914 primary orthostatic hypotension skos:closeMatch GARD:21878 Genetic primary orthostatic hypotension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:448426 LEXMATCH -MONDO:0015914 primary orthostatic hypotension skos:closeMatch GARD:21878 Genetic primary orthostatic hypotension semapv:LexicalMatching oaklib 0.5 skos:narrowMatch skos:exactMatch orphanet:448426 LEXMATCH MONDO:0015915 cerebellar malformation skos:closeMatch GARD:20238 Cerebellar malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:182061 LEXMATCH MONDO:0015921 ARX-related epileptic encephalopathy skos:closeMatch GARD:20241 ARX-related epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:182079 LEXMATCH MONDO:0015923 acquired peripheral neuropathy skos:closeMatch GARD:20243 Acquired peripheral neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:182086 LEXMATCH @@ -26638,7 +26634,6 @@ MONDO:0017575 mitochondrial neurogastrointestinal encephalomyopathy skos:closeMa MONDO:0017575 mitochondrial neurogastrointestinal encephalomyopathy skos:closeMatch GARD:9920 Mitochondrial neurogastrointestinal encephalomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:298 LEXMATCH MONDO:0017576 46,XX disorder of sex development skos:closeMatch GARD:18783 46,XX disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:2982 LEXMATCH MONDO:0017576 46,XX disorder of sex development skos:closeMatch GARD:21482 Genetic 46,XX disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:325697 LEXMATCH -MONDO:0017576 46,XX disorder of sex development skos:closeMatch GARD:21482 Genetic 46,XX disorder of sex development semapv:LexicalMatching oaklib 0.5 skos:narrowMatch skos:exactMatch orphanet:325697 LEXMATCH MONDO:0017577 spontaneous periodic hypothermia skos:closeMatch GARD:4815 Spontaneous periodic hypothermia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:29822 LEXMATCH MONDO:0017578 disorder of thiamine metabolism and transport skos:closeMatch GARD:21231 Disorder of thiamine metabolism and transport semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:298644 LEXMATCH MONDO:0017579 Baraitser-Winter cerebrofrontofacial syndrome skos:closeMatch GARD:15189 Baraitser-winter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch orphanet:2995 LEXMATCH @@ -29605,7 +29600,6 @@ MONDO:0019292 dermis elastic tissue disorder skos:closeMatch GARD:20574 Genetic MONDO:0019293 skin vascular disease skos:closeMatch GARD:19008 Skin vascular disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:79379 LEXMATCH MONDO:0019294 mixed dermis disorder skos:closeMatch GARD:19009 Mixed dermis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:79380 LEXMATCH MONDO:0019294 mixed dermis disorder skos:closeMatch GARD:20274 Genetic mixed dermis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:183481 LEXMATCH -MONDO:0019294 mixed dermis disorder skos:closeMatch GARD:20274 Genetic mixed dermis disorder semapv:LexicalMatching oaklib 0.5 skos:narrowMatch skos:exactMatch orphanet:183481 LEXMATCH MONDO:0019296 subcutaneous tissue disorder skos:closeMatch GARD:19011 Subcutaneous tissue disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:79382 LEXMATCH MONDO:0019303 premature aging syndrome skos:closeMatch GARD:19017 Premature aging semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:79389 LEXMATCH MONDO:0019303 premature aging syndrome skos:closeMatch GARD:19017 Premature aging semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label premature aging LEXMATCH @@ -30094,7 +30088,7 @@ MONDO:0019532 autoimmune hemolytic anemia, warm type skos:closeMatch GARD:7876 A MONDO:0019533 paroxysmal cold hemoglobinuria skos:closeMatch GARD:7335 Paroxysmal cold hemoglobinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:90035 LEXMATCH MONDO:0019534 mixed-type autoimmune hemolytic anemia skos:closeMatch GARD:19101 Mixed-type autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:90036 LEXMATCH MONDO:0019535 drug-induced autoimmune hemolytic anemia skos:closeMatch GARD:19102 Drug-induced autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:90037 LEXMATCH -MONDO:0019536 typical hemolytic-uremic syndrome skos:closeMatch GARD:6588 Shiga toxin-associated hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:90038 LEXMATCH +MONDO:0019536 Shiga toxin-associated hemolytic uremic syndrome skos:closeMatch GARD:6588 Shiga toxin-associated hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:90038 LEXMATCH MONDO:0019537 hemoglobin D disease skos:closeMatch GARD:19103 Hemoglobin D disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:90039 LEXMATCH MONDO:0019538 Gaisbock syndrome skos:closeMatch GARD:19104 Gaisböck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:90041 LEXMATCH MONDO:0019538 Gaisbock syndrome skos:closeMatch GARD:19104 Gaisböck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gaisböck syndrome LEXMATCH @@ -31101,7 +31095,6 @@ MONDO:0020022 central nervous system malformation skos:closeMatch GARD:19394 Cen MONDO:0020023 respiratory or mediastinal malformation skos:closeMatch GARD:19395 Respiratory or mediastinal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:98045 LEXMATCH MONDO:0020039 46,XX disorder of sex development induced by androgens excess skos:closeMatch GARD:19409 46,XX disorder of sex development induced by androgens excess semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:98078 LEXMATCH MONDO:0020040 46,XY disorder of sex development skos:closeMatch GARD:21483 Genetic 46,XY disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:325706 LEXMATCH -MONDO:0020040 46,XY disorder of sex development skos:closeMatch GARD:21483 Genetic 46,XY disorder of sex development semapv:LexicalMatching oaklib 0.5 skos:narrowMatch skos:exactMatch orphanet:325706 LEXMATCH MONDO:0020040 46,XY disorder of sex development skos:closeMatch GARD:8538 46,XY disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:98085 LEXMATCH MONDO:0020043 autosomal recessive congenital cerebellar ataxia skos:closeMatch GARD:19412 Autosomal recessive congenital cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:98095 LEXMATCH MONDO:0020044 autosomal recessive metabolic cerebellar ataxia skos:closeMatch GARD:19413 Autosomal recessive metabolic cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:98096 LEXMATCH @@ -31904,6 +31897,7 @@ MONDO:0021176 autoimmune hepatitis type 2 skos:closeMatch GARD:22252 Autoimmune MONDO:0021181 inherited blood coagulation disorder skos:closeMatch GARD:20319 Rare genetic coagulation disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:183654 LEXMATCH MONDO:0021227 adrenal gland neoplasm skos:closeMatch GARD:19765 Adrenal/paraganglial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:100091 LEXMATCH MONDO:0021227 adrenal gland neoplasm skos:closeMatch GARD:19765 Adrenal/paraganglial tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adrenal/paraganglial tumor LEXMATCH +MONDO:0021272 inherited orthostatic hypotension skos:closeMatch GARD:21878 Genetic primary orthostatic hypotension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:448426 LEXMATCH MONDO:0021427 squamous cell carcinoma of lip skos:closeMatch GARD:17933 Squamous cell carcinoma of the lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:502366 LEXMATCH MONDO:0021547 amelogenesis imperfecta type 3B skos:closeMatch GARD:16931 Hypocalcified amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:narrowMatch omim:617607 LEXMATCH MONDO:0021547 amelogenesis imperfecta type 3B skos:closeMatch GARD:16931 Hypocalcified amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:narrowMatch omim:617607 LEXMATCH @@ -35160,6 +35154,7 @@ MONDO:0700107 chromosome 19q13.11 deletion syndrome, distal skos:closeMatch GARD MONDO:0700107 chromosome 19q13.11 deletion syndrome, distal skos:closeMatch GARD:10592 19q13.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:narrowMatch omim:613026 LEXMATCH MONDO:0700112 heterotaxy, visceral, 5, autosomal skos:closeMatch GARD:10875 Heterotaxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:narrowMatch omim:270100 LEXMATCH MONDO:0700112 heterotaxy, visceral, 5, autosomal skos:closeMatch GARD:10875 Heterotaxia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:narrowMatch omim:270100 LEXMATCH +MONDO:0700220 disease related to transplantation skos:closeMatch GARD:21259 Complication after organ transplantation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:306644 LEXMATCH MONDO:0800025 Teebi hypertelorism syndrome 1 skos:closeMatch GARD:957 SPECC1L-related hypertelorism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:1519 LEXMATCH MONDO:0800025 Teebi hypertelorism syndrome 1 skos:closeMatch GARD:957 SPECC1L-related hypertelorism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:narrowMatch omim:145420 LEXMATCH MONDO:0800025 Teebi hypertelorism syndrome 1 skos:closeMatch GARD:957 SPECC1L-related hypertelorism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:narrowMatch omim:145420 LEXMATCH @@ -35322,6 +35317,20 @@ MONDO:0859160 Mitochondrial complex IV deficiency, nuclear type 22 skos:closeMat MONDO:0859565 atrioventricular septal defect skos:closeMatch GARD:802 Atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:narrowMatch omim:606215 LEXMATCH MONDO:0859565 atrioventricular septal defect skos:closeMatch GARD:802 Atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:narrowMatch omim:606215 LEXMATCH MONDO:0859692 immune-mediated cerebellar ataxia skos:closeMatch GARD:22494 Immune-mediated cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:623638 LEXMATCH +MONDO:0957001 genetic mixed dermis disorder skos:closeMatch GARD:20274 Genetic mixed dermis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:183481 LEXMATCH +MONDO:0957003 genetic neuro-ophthalmological disease skos:closeMatch GARD:20309 Genetic neuro-ophthalmological disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:183616 LEXMATCH +MONDO:0957008 genetic cerebral malformation skos:closeMatch GARD:21004 Genetic cerebral malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:269553 LEXMATCH +MONDO:0957009 genetic posterior fossa malformation skos:closeMatch GARD:21005 Genetic posterior fossa malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:269557 LEXMATCH +MONDO:0957018 autoinflammatory syndrome of childhood skos:closeMatch GARD:21427 Autoinflammatory syndrome of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:319719 LEXMATCH +MONDO:0957024 genetic 46,XX disorder of sex development skos:closeMatch GARD:21482 Genetic 46,XX disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:325697 LEXMATCH +MONDO:0957025 genetic 46,XY disorder of sex development skos:closeMatch GARD:21483 Genetic 46,XY disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:325706 LEXMATCH +MONDO:0957048 isolated macular dystrophy skos:closeMatch GARD:22097 Isolated macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:519302 LEXMATCH +MONDO:0957097 genetic hemolytic uremic syndrome skos:closeMatch GARD:22330 Genetic hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:576742 LEXMATCH +MONDO:0957111 neurological muscular channelopathy due to a genetic sodium channel defect skos:closeMatch GARD:19563 Neurological muscular channelopathy due to a genetic sodium channel defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:98738 LEXMATCH +MONDO:0957112 neurological muscular channelopathy due to a genetic chloride channel defect skos:closeMatch GARD:19564 Neurological muscular channelopathy due to a genetic chloride channel defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:98739 LEXMATCH +MONDO:0957113 neurological muscular channelopathy due to a genetic calcium channel defect skos:closeMatch GARD:19565 Neurological muscular channelopathy due to a genetic calcium channel defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:98740 LEXMATCH +MONDO:0957114 neurological muscular channelopathy due to a genetic potassium channel defect skos:closeMatch GARD:19566 Neurological muscular channelopathy due to a genetic potassium channel defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:98741 LEXMATCH +MONDO:0957115 neurological muscular channelopathy due to a genetic ryanodine receptor defect skos:closeMatch GARD:19567 Neurological muscular channelopathy due to a genetic ryanodine receptor defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:98742 LEXMATCH MONDO:8000006 WHIM syndrome 1 skos:closeMatch GARD:9297 WHIM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch orphanet:51636 LEXMATCH MONDO:8000006 WHIM syndrome 1 skos:closeMatch GARD:9297 WHIM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:narrowMatch omim:193670 LEXMATCH MONDO:8000006 WHIM syndrome 1 skos:closeMatch GARD:9297 WHIM syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:narrowMatch omim:193670 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 index 4eb75f01..7ce7831c 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_omim.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_omim.tsv @@ -1,6 +1,4 @@ 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:0010204 lysosomal acid lipase deficiency skos:closeMatch OMIM:620151 wolman disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wolman disease LEXMATCH -MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch OMIM:620151 wolman disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label wolman disease LEXMATCH MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch OMIM:620315 leukoencephalopathy with vanishing white matter 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cree leukoencephalopathy LEXMATCH MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG skos:closeMatch OMIM:620378 charcot-marie-tooth disease, dominant intermediate a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disease, dominant intermediate a LEXMATCH MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG skos:closeMatch OMIM:620378 charcot-marie-tooth disease, dominant intermediate a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth neuropathy, dominant intermediate a LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_gard.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_gard.tsv index c542f5a7..c7af5d1d 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_gard.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_gard.tsv @@ -1572,7 +1572,7 @@ MONDO:0009114 congenital sucrase-isomaltase deficiency skos:exactMatch GARD:7710 MONDO:0009115 congenital lactase deficiency skos:exactMatch GARD:12311 Congenital lactase deficiency semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:53690 LEXMATCH MONDO:0009120 diverticulosis of bowel, hernia, and retinal detachment skos:exactMatch GARD:3401 Marfanoid syndrome, De Silva type semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:2464 LEXMATCH MONDO:0009121 von Voss-Cherstvoy syndrome skos:exactMatch GARD:1894 Von Voss-Cherstvoy syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:3439 LEXMATCH -MONDO:0009123 dopamine beta-hydroxylase deficiency skos:exactMatch GARD:1903 Dopamine beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:230 LEXMATCH +MONDO:0009123 orthostatic hypotension 1 skos:exactMatch GARD:1903 Dopamine beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:230 LEXMATCH MONDO:0009124 Dubowitz syndrome skos:exactMatch GARD:6290 Dubowitz syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:235 LEXMATCH MONDO:0009126 duodenal atresia skos:exactMatch GARD:54 Duodenal atresia semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:1203 LEXMATCH MONDO:0009130 Dyggve-Melchior-Clausen disease skos:exactMatch GARD:6295 Dyggve-Melchior-Clausen disease semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:239 LEXMATCH @@ -2821,7 +2821,7 @@ MONDO:0010890 acrocardiofacial syndrome skos:exactMatch GARD:1167 Acrocardiofaci MONDO:0010891 lethal hemolytic anemia-genital anomalies syndrome skos:exactMatch GARD:2642 Lethal hemolytic anemia-genital anomalies syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:1046 LEXMATCH MONDO:0010893 malignant hyperthermia, susceptibility to, 4 skos:exactMatch GARD:3366 Malignant hyperthermia, susceptibility to, 4 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:600467 LEXMATCH MONDO:0010894 maturity-onset diabetes of the young type 3 skos:exactMatch GARD:10658 Maturity-onset diabetes of the young, type 3 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:600496 LEXMATCH -MONDO:0010898 Autosomal dominant epilepsy with auditory features skos:exactMatch GARD:2257 Autosomal dominant epilepsy with auditory features semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:101046 LEXMATCH +MONDO:0010898 autosomal dominant epilepsy with auditory features skos:exactMatch GARD:2257 Autosomal dominant epilepsy with auditory features semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:101046 LEXMATCH MONDO:0010899 autosomal dominant nocturnal frontal lobe epilepsy 1 skos:exactMatch GARD:15319 Epilepsy, nocturnal frontal lobe, 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:600513 LEXMATCH MONDO:0010900 intrauterine growth retardation with increased mitomycin c sensitivity skos:exactMatch GARD:5593 Intrauterine growth retardation with increased mitomycin c sensitivity semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:600546 LEXMATCH MONDO:0010901 HEC syndrome skos:exactMatch GARD:2620 HEC syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:2119 LEXMATCH @@ -9303,7 +9303,7 @@ MONDO:0019532 autoimmune hemolytic anemia, warm type skos:exactMatch GARD:7876 A MONDO:0019533 paroxysmal cold hemoglobinuria skos:exactMatch GARD:7335 Paroxysmal cold hemoglobinuria semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:90035 LEXMATCH MONDO:0019534 mixed-type autoimmune hemolytic anemia skos:exactMatch GARD:19101 Mixed-type autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:90036 LEXMATCH MONDO:0019535 drug-induced autoimmune hemolytic anemia skos:exactMatch GARD:19102 Drug-induced autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:90037 LEXMATCH -MONDO:0019536 typical hemolytic-uremic syndrome skos:exactMatch GARD:6588 Shiga toxin-associated hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:90038 LEXMATCH +MONDO:0019536 Shiga toxin-associated hemolytic uremic syndrome skos:exactMatch GARD:6588 Shiga toxin-associated hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:90038 LEXMATCH MONDO:0019537 hemoglobin D disease skos:exactMatch GARD:19103 Hemoglobin D disease semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:90039 LEXMATCH MONDO:0019538 Gaisbock syndrome skos:exactMatch GARD:19104 Gaisböck syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:90041 LEXMATCH MONDO:0019540 diffuse alveolar hemorrhage skos:exactMatch GARD:19110 Diffuse alveolar hemorrhage semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:90060 LEXMATCH @@ -10075,6 +10075,7 @@ MONDO:0021172 Timothy syndrome, atypical type skos:exactMatch GARD:22382 Atypica MONDO:0021176 autoimmune hepatitis type 2 skos:exactMatch GARD:22252 Autoimmune hepatitis type 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:563581 LEXMATCH MONDO:0021181 inherited blood coagulation disorder skos:exactMatch GARD:20319 Rare genetic coagulation disorder semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:183654 LEXMATCH MONDO:0021227 adrenal gland neoplasm skos:exactMatch GARD:19765 Adrenal/paraganglial tumor semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:100091 LEXMATCH +MONDO:0021272 inherited orthostatic hypotension skos:exactMatch GARD:21878 Genetic primary orthostatic hypotension semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:448426 LEXMATCH MONDO:0021427 squamous cell carcinoma of lip skos:exactMatch GARD:17933 Squamous cell carcinoma of the lip semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:502366 LEXMATCH MONDO:0021547 amelogenesis imperfecta type 3B skos:exactMatch GARD:18258 Amelogenesis imperfecta, type iiib semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:617607 LEXMATCH MONDO:0021548 total early-onset cataract skos:exactMatch GARD:1159 Total early-onset cataract semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:98994 LEXMATCH @@ -11023,6 +11024,7 @@ MONDO:0700042 X-linked mendelian susceptibility to mycobacterial diseases due to MONDO:0700081 newborn respiratory distress syndrome skos:exactMatch GARD:112 Infant acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label infant acute respiratory distress syndrome LEXMATCH MONDO:0700087 Usher syndrome type 1B skos:exactMatch GARD:5436 Usher syndrome, type i semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:276900 LEXMATCH MONDO:0700088 paroxysmal nonkinesigenic dyskinesia skos:exactMatch GARD:8722 Paroxysmal non-kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:98810 LEXMATCH +MONDO:0700220 disease related to transplantation skos:exactMatch GARD:21259 Complication after organ transplantation semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:306644 LEXMATCH MONDO:0800025 Teebi hypertelorism syndrome 1 skos:exactMatch GARD:957 SPECC1L-related hypertelorism syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:1519 LEXMATCH MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:exactMatch GARD:8535 Congenital central hypoventilation syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:661 LEXMATCH MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 skos:exactMatch GARD:10981 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:313808 LEXMATCH @@ -11121,6 +11123,20 @@ MONDO:0859157 visceral myopathy 2 skos:exactMatch GARD:16446 Visceral myopathy 2 MONDO:0859160 Mitochondrial complex IV deficiency, nuclear type 22 skos:exactMatch GARD:16448 Mitochondrial complex iv deficiency, nuclear type 22 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619355 LEXMATCH MONDO:0859565 atrioventricular septal defect skos:exactMatch GARD:802 Atrioventricular septal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrioventricular septal defect LEXMATCH MONDO:0859692 immune-mediated cerebellar ataxia skos:exactMatch GARD:22494 Immune-mediated cerebellar ataxia semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:623638 LEXMATCH +MONDO:0957001 genetic mixed dermis disorder skos:exactMatch GARD:20274 Genetic mixed dermis disorder semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:183481 LEXMATCH +MONDO:0957003 genetic neuro-ophthalmological disease skos:exactMatch GARD:20309 Genetic neuro-ophthalmological disease semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:183616 LEXMATCH +MONDO:0957008 genetic cerebral malformation skos:exactMatch GARD:21004 Genetic cerebral malformation semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:269553 LEXMATCH +MONDO:0957009 genetic posterior fossa malformation skos:exactMatch GARD:21005 Genetic posterior fossa malformation semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:269557 LEXMATCH +MONDO:0957018 autoinflammatory syndrome of childhood skos:exactMatch GARD:21427 Autoinflammatory syndrome of childhood semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:319719 LEXMATCH +MONDO:0957024 genetic 46,XX disorder of sex development skos:exactMatch GARD:21482 Genetic 46,XX disorder of sex development semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:325697 LEXMATCH +MONDO:0957025 genetic 46,XY disorder of sex development skos:exactMatch GARD:21483 Genetic 46,XY disorder of sex development semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:325706 LEXMATCH +MONDO:0957048 isolated macular dystrophy skos:exactMatch GARD:22097 Isolated macular dystrophy semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:519302 LEXMATCH +MONDO:0957097 genetic hemolytic uremic syndrome skos:exactMatch GARD:22330 Genetic hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:576742 LEXMATCH +MONDO:0957111 neurological muscular channelopathy due to a genetic sodium channel defect skos:exactMatch GARD:19563 Neurological muscular channelopathy due to a genetic sodium channel defect semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:98738 LEXMATCH +MONDO:0957112 neurological muscular channelopathy due to a genetic chloride channel defect skos:exactMatch GARD:19564 Neurological muscular channelopathy due to a genetic chloride channel defect semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:98739 LEXMATCH +MONDO:0957113 neurological muscular channelopathy due to a genetic calcium channel defect skos:exactMatch GARD:19565 Neurological muscular channelopathy due to a genetic calcium channel defect semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:98740 LEXMATCH +MONDO:0957114 neurological muscular channelopathy due to a genetic potassium channel defect skos:exactMatch GARD:19566 Neurological muscular channelopathy due to a genetic potassium channel defect semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:98741 LEXMATCH +MONDO:0957115 neurological muscular channelopathy due to a genetic ryanodine receptor defect skos:exactMatch GARD:19567 Neurological muscular channelopathy due to a genetic ryanodine receptor defect semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:98742 LEXMATCH MONDO:8000006 WHIM syndrome 1 skos:exactMatch GARD:9297 WHIM syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:51636 LEXMATCH MONDO:8000008 Martsolf syndrome 1 skos:exactMatch GARD:3406 Cataract-intellectual disability-hypogonadism syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:1387 LEXMATCH MONDO:8000010 antiphospholipid syndrome skos:exactMatch GARD:5824 Antiphospholipid syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:80 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 7c15a780..7ff79e89 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omim.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omim.tsv @@ -646,7 +646,6 @@ MONDO:0018023 hemoglobin M disease skos:exactMatch OMIM:617971 methemoglobinemia MONDO:0018138 obsolete ocular albinism with congenital sensorineural hearing loss skos:exactMatch OMIM:103470 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0018805 bile duct cyst skos:exactMatch OMIM:603003 bile duct cysts semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0018820 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome skos:exactMatch OMIM:616878 metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019148 Wolman disease skos:exactMatch OMIM:620151 wolman disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wolman disease LEXMATCH MONDO:0019348 obsolete Ehlers-Danlos syndrome with periventricular heterotopia skos:exactMatch OMIM:300537 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020458 hemolytic anemia due to erythrocyte adenosine deaminase overproduction skos:exactMatch OMIM:301083 adenosine deaminase, elevated, hemolytic anemia due to semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020507 Cree leukoencephalopathy skos:exactMatch OMIM:620315 leukoencephalopathy with vanishing white matter 5 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cree leukoencephalopathy LEXMATCH diff --git a/src/ontology/lexmatch/unmapped_gard_lex.tsv b/src/ontology/lexmatch/unmapped_gard_lex.tsv index 72c34818..d3734744 100644 --- a/src/ontology/lexmatch/unmapped_gard_lex.tsv +++ b/src/ontology/lexmatch/unmapped_gard_lex.tsv @@ -510,6 +510,7 @@ MONDO:0009099 nephrogenic diabetes insipidus-intracranial calcification syndrome MONDO:0009105 trichohepatoenteric syndrome GARD:5258 MONDO:equivalentTo Syndromic diarrhea semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:84064 MONDO:0009106 diastematomyelia GARD:1851 MONDO:equivalentTo Split cord malformation type I semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:1671 MONDO:0009120 diverticulosis of bowel, hernia, and retinal detachment GARD:3401 MONDO:equivalentTo Marfanoid syndrome, De Silva type semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:2464 +MONDO:0009123 orthostatic hypotension 1 GARD:1903 MONDO:equivalentTo Dopamine beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:230 MONDO:0009131 Riley-Day syndrome GARD:7581 MONDO:equivalentTo Familial dysautonomia semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:1764 MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium GARD:1998 MONDO:equivalentTo Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:1766 MONDO:0009134 congenital dyserythropoietic anemia type 2 GARD:2001 MONDO:equivalentTo Congenital dyserythropoietic anemia type II semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:98873 @@ -2590,7 +2591,6 @@ MONDO:0019509 cutaneous leukocytoclastic angiitis GARD:7851 MONDO:equivalentTo C MONDO:0019512 congenital heart malformation GARD:19094 MONDO:equivalentTo Rare congenital non-syndromic heart malformation semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:88991 MONDO:0019516 exudative vitreoretinopathy GARD:1613 MONDO:equivalentTo Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:891 MONDO:0019522 recessive dystrophic epidermolysis bullosa-generalized other GARD:12794 MONDO:equivalentTo Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:89842 -MONDO:0019536 typical hemolytic-uremic syndrome GARD:6588 MONDO:equivalentTo Shiga toxin-associated hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:90038 MONDO:0019538 Gaisbock syndrome GARD:19104 MONDO:equivalentTo Gaisböck syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:90041 MONDO:0019555 panniculitis and localized lipodystrophy GARD:19128 MONDO:equivalentTo Panniculitis-induced localized lipodystrophy semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:90159 MONDO:0019563 CREST syndrome GARD:1053 MONDO:equivalentTo Limited cutaneous systemic sclerosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label limited cutaneous systemic sclerosis @@ -2728,6 +2728,7 @@ MONDO:0021154 dermis disorder GARD:19010 MONDO:equivalentTo Other dermis disorde MONDO:0021172 Timothy syndrome, atypical type GARD:22382 MONDO:equivalentTo Atypical Timothy syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:595109 MONDO:0021181 inherited blood coagulation disorder GARD:20319 MONDO:equivalentTo Rare genetic coagulation disorder semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:183654 MONDO:0021227 adrenal gland neoplasm GARD:19765 MONDO:equivalentTo Adrenal/paraganglial tumor semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:100091 +MONDO:0021272 inherited orthostatic hypotension GARD:21878 MONDO:equivalentTo Genetic primary orthostatic hypotension semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:448426 MONDO:0021427 squamous cell carcinoma of lip GARD:17933 MONDO:equivalentTo Squamous cell carcinoma of the lip semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:502366 MONDO:0021547 amelogenesis imperfecta type 3B GARD:18258 MONDO:equivalentTo Amelogenesis imperfecta, type iiib semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:617607 MONDO:0021636 astrocytic tumor GARD:12928 MONDO:equivalentTo Astrocytoma semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:94 @@ -3010,6 +3011,7 @@ MONDO:0600030 B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-P MONDO:0700081 newborn respiratory distress syndrome GARD:112 MONDO:equivalentTo Infant acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label infant acute respiratory distress syndrome MONDO:0700087 Usher syndrome type 1B GARD:5436 MONDO:equivalentTo Usher syndrome, type i semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:276900 MONDO:0700088 paroxysmal nonkinesigenic dyskinesia GARD:8722 MONDO:equivalentTo Paroxysmal non-kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:98810 +MONDO:0700220 disease related to transplantation GARD:21259 MONDO:equivalentTo Complication after organ transplantation semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:306644 MONDO:0800025 Teebi hypertelorism syndrome 1 GARD:957 MONDO:equivalentTo SPECC1L-related hypertelorism syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:1519 MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease GARD:8535 MONDO:equivalentTo Congenital central hypoventilation syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:661 MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 GARD:10981 MONDO:equivalentTo Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:313808 diff --git a/src/ontology/lexmatch/unmapped_gard_lex_exact.tsv b/src/ontology/lexmatch/unmapped_gard_lex_exact.tsv index 77a9d2e3..856ac71c 100644 --- a/src/ontology/lexmatch/unmapped_gard_lex_exact.tsv +++ b/src/ontology/lexmatch/unmapped_gard_lex_exact.tsv @@ -1063,7 +1063,6 @@ MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency GARD: MONDO:0009114 congenital sucrase-isomaltase deficiency GARD:7710 MONDO:equivalentTo Congenital sucrase-isomaltase deficiency semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:35122 MONDO:0009115 congenital lactase deficiency GARD:12311 MONDO:equivalentTo Congenital lactase deficiency semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:53690 MONDO:0009121 von Voss-Cherstvoy syndrome GARD:1894 MONDO:equivalentTo Von Voss-Cherstvoy syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:3439 -MONDO:0009123 dopamine beta-hydroxylase deficiency GARD:1903 MONDO:equivalentTo Dopamine beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:230 MONDO:0009124 Dubowitz syndrome GARD:6290 MONDO:equivalentTo Dubowitz syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:235 MONDO:0009126 duodenal atresia GARD:54 MONDO:equivalentTo Duodenal atresia semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:1203 MONDO:0009130 Dyggve-Melchior-Clausen disease GARD:6295 MONDO:equivalentTo Dyggve-Melchior-Clausen disease semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:239 @@ -1883,7 +1882,7 @@ MONDO:0010889 arterial dissection-lentiginosis syndrome GARD:16577 MONDO:equival MONDO:0010890 acrocardiofacial syndrome GARD:1167 MONDO:equivalentTo Acrocardiofacial syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:2008 MONDO:0010891 lethal hemolytic anemia-genital anomalies syndrome GARD:2642 MONDO:equivalentTo Lethal hemolytic anemia-genital anomalies syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:1046 MONDO:0010893 malignant hyperthermia, susceptibility to, 4 GARD:3366 MONDO:equivalentTo Malignant hyperthermia, susceptibility to, 4 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:600467 -MONDO:0010898 Autosomal dominant epilepsy with auditory features GARD:2257 MONDO:equivalentTo Autosomal dominant epilepsy with auditory features semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:101046 +MONDO:0010898 autosomal dominant epilepsy with auditory features GARD:2257 MONDO:equivalentTo Autosomal dominant epilepsy with auditory features semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:101046 MONDO:0010900 intrauterine growth retardation with increased mitomycin c sensitivity GARD:5593 MONDO:equivalentTo Intrauterine growth retardation with increased mitomycin c sensitivity semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:600546 MONDO:0010901 HEC syndrome GARD:2620 MONDO:equivalentTo HEC syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:2119 MONDO:0010902 spondyloepiphyseal dysplasia, Reardon type GARD:16994 MONDO:equivalentTo Spondyloepiphyseal dysplasia, Reardon type semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:163662 @@ -6714,6 +6713,7 @@ MONDO:0019532 autoimmune hemolytic anemia, warm type GARD:7876 MONDO:equivalentT MONDO:0019533 paroxysmal cold hemoglobinuria GARD:7335 MONDO:equivalentTo Paroxysmal cold hemoglobinuria semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:90035 MONDO:0019534 mixed-type autoimmune hemolytic anemia GARD:19101 MONDO:equivalentTo Mixed-type autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:90036 MONDO:0019535 drug-induced autoimmune hemolytic anemia GARD:19102 MONDO:equivalentTo Drug-induced autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:90037 +MONDO:0019536 Shiga toxin-associated hemolytic uremic syndrome GARD:6588 MONDO:equivalentTo Shiga toxin-associated hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:90038 MONDO:0019537 hemoglobin D disease GARD:19103 MONDO:equivalentTo Hemoglobin D disease semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:90039 MONDO:0019540 diffuse alveolar hemorrhage GARD:19110 MONDO:equivalentTo Diffuse alveolar hemorrhage semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:90060 MONDO:0019541 non-infectious posterior uveitis GARD:19111 MONDO:equivalentTo Non-infectious posterior uveitis semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:90061 @@ -8097,4 +8097,18 @@ MONDO:0859157 visceral myopathy 2 GARD:16446 MONDO:equivalentTo Visceral myopath MONDO:0859160 Mitochondrial complex IV deficiency, nuclear type 22 GARD:16448 MONDO:equivalentTo Mitochondrial complex iv deficiency, nuclear type 22 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619355 MONDO:0859565 atrioventricular septal defect GARD:802 MONDO:equivalentTo Atrioventricular septal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrioventricular septal defect MONDO:0859692 immune-mediated cerebellar ataxia GARD:22494 MONDO:equivalentTo Immune-mediated cerebellar ataxia semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:623638 +MONDO:0957001 genetic mixed dermis disorder GARD:20274 MONDO:equivalentTo Genetic mixed dermis disorder semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:183481 +MONDO:0957003 genetic neuro-ophthalmological disease GARD:20309 MONDO:equivalentTo Genetic neuro-ophthalmological disease semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:183616 +MONDO:0957008 genetic cerebral malformation GARD:21004 MONDO:equivalentTo Genetic cerebral malformation semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:269553 +MONDO:0957009 genetic posterior fossa malformation GARD:21005 MONDO:equivalentTo Genetic posterior fossa malformation semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:269557 +MONDO:0957018 autoinflammatory syndrome of childhood GARD:21427 MONDO:equivalentTo Autoinflammatory syndrome of childhood semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:319719 +MONDO:0957024 genetic 46,XX disorder of sex development GARD:21482 MONDO:equivalentTo Genetic 46,XX disorder of sex development semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:325697 +MONDO:0957025 genetic 46,XY disorder of sex development GARD:21483 MONDO:equivalentTo Genetic 46,XY disorder of sex development semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:325706 +MONDO:0957048 isolated macular dystrophy GARD:22097 MONDO:equivalentTo Isolated macular dystrophy semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:519302 +MONDO:0957097 genetic hemolytic uremic syndrome GARD:22330 MONDO:equivalentTo Genetic hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:576742 +MONDO:0957111 neurological muscular channelopathy due to a genetic sodium channel defect GARD:19563 MONDO:equivalentTo Neurological muscular channelopathy due to a genetic sodium channel defect semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:98738 +MONDO:0957112 neurological muscular channelopathy due to a genetic chloride channel defect GARD:19564 MONDO:equivalentTo Neurological muscular channelopathy due to a genetic chloride channel defect semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:98739 +MONDO:0957113 neurological muscular channelopathy due to a genetic calcium channel defect GARD:19565 MONDO:equivalentTo Neurological muscular channelopathy due to a genetic calcium channel defect semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:98740 +MONDO:0957114 neurological muscular channelopathy due to a genetic potassium channel defect GARD:19566 MONDO:equivalentTo Neurological muscular channelopathy due to a genetic potassium channel defect semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:98741 +MONDO:0957115 neurological muscular channelopathy due to a genetic ryanodine receptor defect GARD:19567 MONDO:equivalentTo Neurological muscular channelopathy due to a genetic ryanodine receptor defect semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:98742 MONDO:8000010 antiphospholipid syndrome GARD:5824 MONDO:equivalentTo Antiphospholipid syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch orphanet:80 diff --git a/src/ontology/lexmatch/unmapped_omim_lex_exact.tsv b/src/ontology/lexmatch/unmapped_omim_lex_exact.tsv index 13c53658..67c255c1 100644 --- a/src/ontology/lexmatch/unmapped_omim_lex_exact.tsv +++ b/src/ontology/lexmatch/unmapped_omim_lex_exact.tsv @@ -1,3 +1,2 @@ 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:0019148 Wolman disease OMIM:620151 MONDO:equivalentTo wolman disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wolman disease diff --git a/src/ontology/metadata/doid-metrics.json b/src/ontology/metadata/doid-metrics.json index 5e608539..c6290a16 100644 --- a/src/ontology/metadata/doid-metrics.json +++ b/src/ontology/metadata/doid-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 2, "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/2023-06-18/doid.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2023-06-22/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 31bac3db..f6b7fd4e 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/2023-06-18/gard.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2023-06-22/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 5b4aa2f2..8a75d492 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/2023-06-18/icd10cm.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2023-06-22/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 c2cd54f7..d6449953 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/2023-06-18/icd10who.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2023-06-22/icd10who.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 100b1daf..4b603971 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/2023-06-18/ncit.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2023-06-22/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 8ca70f06..d2fbb057 100644 --- a/src/ontology/metadata/omim-metrics.json +++ b/src/ontology/metadata/omim-metrics.json @@ -4,8 +4,8 @@ "abox_axiom_count_incl": 0, "annotation_property_count": 13, "annotation_property_count_incl": 13, - "axiom_count": 371144, - "axiom_count_incl": 371144, + "axiom_count": 347180, + "axiom_count_incl": 347180, "class_count": 31395, "class_count_incl": 31395, "dataproperty_count": 0, @@ -26,7 +26,7 @@ "obj_property_count_incl": 6, "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/2023-06-18/omim.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2023-06-22/omim.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, @@ -63,12 +63,12 @@ "valid_imports": [], "valid_imports_incl": [], "axiom_type_count": { - "AnnotationAssertion": 303823, + "AnnotationAssertion": 279859, "Declaration": 31410, "SubClassOf": 35911 }, "axiom_type_count_incl": { - "AnnotationAssertion": 303823, + "AnnotationAssertion": 279859, "Declaration": 31410, "SubClassOf": 35911 }, @@ -96,12 +96,12 @@ }, "namespace_axiom_count": { "prefix_unknown": 78681, - "oboInOwl": 138221, + "oboInOwl": 90281, "MONDO": 18808, "rdf": 7041, "owl": 1358, "IAO": 55200, - "skos": 59546, + "skos": 59552, "rdfs": 36021, "biolink": 32828, "CHR": 7469, @@ -110,12 +110,12 @@ }, "namespace_axiom_count_incl": { "prefix_unknown": 78681, - "oboInOwl": 138221, + "oboInOwl": 90281, "MONDO": 18808, "rdf": 7041, "owl": 1358, "IAO": 55200, - "skos": 59546, + "skos": 59552, "rdfs": 36021, "biolink": 32828, "CHR": 7469, diff --git a/src/ontology/metadata/ordo-metrics.json b/src/ontology/metadata/ordo-metrics.json index e9d90c56..b8ef2e0e 100644 --- a/src/ontology/metadata/ordo-metrics.json +++ b/src/ontology/metadata/ordo-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 3, "ontology_anno_count": 0, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/ordo.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2023-06-18/ordo.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2023-06-22/ordo.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/reports/component_signature-doid.tsv b/src/ontology/reports/component_signature-doid.tsv index f879c529..44d20ca8 100644 --- a/src/ontology/reports/component_signature-doid.tsv +++ b/src/ontology/reports/component_signature-doid.tsv @@ -2041,9 +2041,66 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + @@ -2122,7 +2179,6 @@ - @@ -2131,7 +2187,6 @@ - @@ -3312,6 +3367,41 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + @@ -11474,6 +11564,7 @@ + diff --git a/src/ontology/reports/doid_exclusion_reasons.robot.template.tsv b/src/ontology/reports/doid_exclusion_reasons.robot.template.tsv index b582eba0..998b797e 100644 --- a/src/ontology/reports/doid_exclusion_reasons.robot.template.tsv +++ b/src/ontology/reports/doid_exclusion_reasons.robot.template.tsv @@ -502,6 +502,8 @@ DOID:0080024 MONDO:excludeNonDisease DOID:0080034 MONDO:excludeNonDisease DOID:0080048 MONDO:excludeNonDisease DOID:0080088 MONDO:excludeNonDisease +DOID:0080091 MONDO:excludeNonDisease +DOID:0080100 MONDO:excludeNonDisease DOID:0080220 MONDO:excludeNonDisease DOID:0080221 MONDO:excludeNonDisease DOID:0080229 MONDO:excludeNonDisease diff --git a/src/ontology/reports/doid_term_exclusions.txt b/src/ontology/reports/doid_term_exclusions.txt index 1668feec..71af0816 100644 --- a/src/ontology/reports/doid_term_exclusions.txt +++ b/src/ontology/reports/doid_term_exclusions.txt @@ -467,6 +467,8 @@ DOID:0080024 DOID:0080034 DOID:0080048 DOID:0080088 +DOID:0080091 +DOID:0080100 DOID:0080220 DOID:0080221 DOID:0080229 diff --git a/src/ontology/reports/mirror_signature-doid.tsv b/src/ontology/reports/mirror_signature-doid.tsv index b7d9c0df..5620ec6e 100644 --- a/src/ontology/reports/mirror_signature-doid.tsv +++ b/src/ontology/reports/mirror_signature-doid.tsv @@ -2798,9 +2798,66 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + @@ -4089,6 +4146,41 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + diff --git a/src/ontology/reports/mirror_signature-mondo.tsv b/src/ontology/reports/mirror_signature-mondo.tsv index 40e0aaeb..55ac70de 100644 --- a/src/ontology/reports/mirror_signature-mondo.tsv +++ b/src/ontology/reports/mirror_signature-mondo.tsv @@ -38719,6 +38719,82 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + diff --git a/src/ontology/reports/ncit_mapped_deprecated_terms.robot.template.tsv b/src/ontology/reports/ncit_mapped_deprecated_terms.robot.template.tsv index 73b2d583..82cadceb 100644 --- a/src/ontology/reports/ncit_mapped_deprecated_terms.robot.template.tsv +++ b/src/ontology/reports/ncit_mapped_deprecated_terms.robot.template.tsv @@ -1,35 +1,5 @@ mondo_id source_id source ID A oboInOwl:hasDbXref >A oboInOwl:source -MONDO:0002063 NCIT:C6977 MONDO:equivalentObsolete -MONDO:0002274 NCIT:C35878 MONDO:equivalentObsolete -MONDO:0002388 NCIT:C4191 MONDO:equivalentObsolete -MONDO:0002598 NCIT:C3753 MONDO:equivalentObsolete -MONDO:0002812 NCIT:C27339 MONDO:equivalentObsolete -MONDO:0002813 NCIT:C4501 MONDO:equivalentObsolete -MONDO:0003002 NCIT:C2996 MONDO:equivalentObsolete -MONDO:0003333 NCIT:C40012 MONDO:equivalentObsolete -MONDO:0003430 NCIT:C7910 MONDO:equivalentObsolete -MONDO:0003495 NCIT:C40092 MONDO:equivalentObsolete -MONDO:0003603 NCIT:C4009 MONDO:equivalentObsolete -MONDO:0003604 NCIT:C7047 MONDO:equivalentObsolete -MONDO:0003681 NCIT:C4303 MONDO:equivalentObsolete -MONDO:0003723 NCIT:C6941 MONDO:equivalentObsolete -MONDO:0003899 NCIT:C27378 MONDO:equivalentObsolete -MONDO:0003937 NCIT:C116779 MONDO:equivalentObsolete MONDO:0003998 NCIT:C40257 MONDO:equivalentObsolete -MONDO:0004212 NCIT:C40288 MONDO:equivalentObsolete -MONDO:0004259 NCIT:C28327 MONDO:equivalentObsolete -MONDO:0004538 NCIT:C40202 MONDO:equivalentObsolete -MONDO:0005103 NCIT:C4250 MONDO:equivalentObsolete -MONDO:0006096 NCIT:C4654 MONDO:equivalentObsolete -MONDO:0006890 NCIT:C3916 MONDO:equivalentObsolete -MONDO:0008189 NCIT:C4383 MONDO:equivalentObsolete -MONDO:0009279 NCIT:C131005 MONDO:equivalentObsolete MONDO:0017308 NCIT:C75007 MONDO:equivalentObsolete -MONDO:0019611 NCIT:C8011 MONDO:equivalentObsolete -MONDO:0019927 NCIT:C7911 MONDO:equivalentObsolete -MONDO:0020720 NCIT:C123265 MONDO:equivalentObsolete MONDO:0020842 NCIT:C8998 MONDO:equivalentObsolete -MONDO:0024888 NCIT:C4295 MONDO:equivalentObsolete -MONDO:0024889 NCIT:C4294 MONDO:equivalentObsolete -MONDO:0045058 NCIT:C7909 MONDO:equivalentObsolete diff --git a/src/ontology/reports/ncit_mapping_status.tsv b/src/ontology/reports/ncit_mapping_status.tsv index ddc971a4..a99f04b3 100644 --- a/src/ontology/reports/ncit_mapping_status.tsv +++ b/src/ontology/reports/ncit_mapping_status.tsv @@ -3216,7 +3216,6 @@ NCIT:C165659 High-CSD Melanoma False False False NCIT:C165662 Nail Matrix Nevus False False False NCIT:C165663 CIC-DUX4 Sarcoma False False False NCIT:C165665 CIC-DUX4L Sarcoma False False False -NCIT:C165671 EWSR1-Negative Small Round Cell Tumor False False False NCIT:C165698 Metastatic Breast Adenocarcinoma False False False NCIT:C165699 Locally Advanced Breast Adenocarcinoma False False False NCIT:C165700 Advanced Breast Adenocarcinoma False False False @@ -11135,6 +11134,7 @@ NCIT:C116336 Obstructive Apnea False False True NCIT:C116356 Fluorine F 18-AV-133 False False True NCIT:C116474 In Vitro-Treated Peripheral Blood Lymphocyte Therapy False False True NCIT:C116735 Fluorine F 18 L-glutamate Derivative BAY94-9392 False False True +NCIT:C116779 Spondylitis False False True NCIT:C116875 Thrombopoietin Receptor Agonist LGD-4665 False False True NCIT:C116892 Urea/Lactic Acid-based Topical Cream False False True NCIT:C116893 Ofranergene obadenovec False False True @@ -11289,6 +11289,7 @@ NCIT:C12293 Skin of Other and Unspecified Parts of Face False False True NCIT:C12317 Other and Unspecified Female Genital Organ False False True NCIT:C12322 Other Specified Parts of Female Genital Organ False False True NCIT:C123224 Branchio-oto-renal Syndrome False False True +NCIT:C123265 X-linked Hypophosphatemic Rickets False False True NCIT:C12327 Descended Testis False False True NCIT:C12330 Other Specified Parts of Male Genital Organs False False True NCIT:C12340 Eye and Adnexa False False True @@ -11385,6 +11386,7 @@ NCIT:C130984 Chromosome 18q Deletion Syndrome False False True NCIT:C13099 Submucosal Tissue of Human Prostate False False True NCIT:C130999 Pearson Syndrome False False True NCIT:C131004 Sotos Syndrome False False True +NCIT:C131005 Triple A Syndrome False False True NCIT:C131011 Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Syndrome False False True NCIT:C13111 Retired Anatomy Concepts False False True NCIT:C131212 Fluorine F18 T807 False False True @@ -14544,8 +14546,10 @@ NCIT:C2724 MS-275 False False True NCIT:C27251 PDQ Antiquated Neoplastic Concept False False True NCIT:C27279 Localized Adrenal Gland Pheochromocytoma False False True NCIT:C27315 Mycobacterium Avium Intracellulare Lymphadenitis False False True +NCIT:C27339 Infectious Otitis Interna False False True NCIT:C27355 Mixed Pineocytoma-Pineoblastoma False False True NCIT:C27360 Philadelphia Chromosome Negative BCR-ABL1 Positive Chronic Myelogenous Leukemia False False True +NCIT:C27378 Adult Myxoid Chondrosarcoma False False True NCIT:C2738 Isoxazole Urea False False True NCIT:C27386 Lymphoepithelioma-Like Gastric Carcinoma False False True NCIT:C27387 Lymphoepithelioma-Like Carcinoma False False True @@ -14633,6 +14637,7 @@ NCIT:C28323 stage III cancer of the uterus False False True NCIT:C28324 stage II cancer of the uterus False False True NCIT:C28325 stage I cancer of the uterus False False True NCIT:C28326 stage IV cancer of the uterus False False True +NCIT:C28327 Endocervical Carcinoma False False True NCIT:C28329 Commercial or Non-CTEP IND agent False False True NCIT:C28332 Follicle Centre Lymphoma, Follicular Grade I, II, III Stage IV False False True NCIT:C28345 Angelica Root False False True @@ -14780,6 +14785,7 @@ NCIT:C29806 9,10-Dimethyl-1,2-Benzanthracene False False True NCIT:C29808 Benzo[a]pyrene False False True NCIT:C29933 Ethnicity False False True NCIT:C29947 Recombinant Vaccinia-Tyrosinase False False True +NCIT:C2996 Dysgerminoma False False True NCIT:C29975 Recombinant Fowlpox-GM-CSF False False True NCIT:C29976 Recombinant Vaccinia-GM-CSF False False True NCIT:C30140 Extremities False False True @@ -14900,6 +14906,7 @@ NCIT:C35862 Adrenal Gland Pheochromocytoma False False True NCIT:C35863 Malignant Adrenal Gland Pheochromocytoma False False True NCIT:C35864 Extra-Adrenal Pheochromocytoma False False True NCIT:C35865 Malignant Extra-Adrenal Pheochromocytoma False False True +NCIT:C35878 Monoclonal Paraproteinemia False False True NCIT:C35934 Locally Metastatic Malignant Neoplasm False False True NCIT:C36093 Endometrial Mucinous Adenocarcinoma False False True NCIT:C36259 Acute Promyelocytic Leukemia with t(15;17)(q22;q12); PML/RARA False False True @@ -14940,6 +14947,7 @@ NCIT:C37488 gp100 Antigen/Incomplete Freund's Adjuvant/Interleukin-2/MART-1 Anti NCIT:C37489 gp100 Antigen/Incomplete Freund's Adjuvant/MART-1 Antigen/Sargramostim/Tyrosinase Peptide False False True NCIT:C37523 Amsacrine/Azacitidine/Etoposide False False True NCIT:C37529 Anti-Thymocyte Globulin/Busulfan/Cyclophosphamide False False True +NCIT:C3753 Germinoma False False True NCIT:C37545 Azacitidine/Carboplatin False False True NCIT:C37546 Azacitidine/Cyclophosphamide/Cytarabine/Thioguanine/Vincristine False False True NCIT:C37547 Azacitidine/Cytarabine/Daunorubicin/Prednisone/Vincristine False False True @@ -15001,6 +15009,7 @@ NCIT:C38882 Urea Cycle and Metabolism of Amino Groups Pathway False False True NCIT:C38952 High Affinity Interleukin-2 Receptor False False True NCIT:C38960 Elongation Factor 1B1 False False True NCIT:C3906 Adrenal Gland Adenoma False False True +NCIT:C3916 Parathyroid Gland Adenoma False False True NCIT:C3922 Large Plaque Parapsoriasis False False True NCIT:C39280 Myosin Pathway False False True NCIT:C39429 Institute for Cancer Prevention False False True @@ -15010,12 +15019,17 @@ NCIT:C39693 Histiocytic Infiltrate False False True NCIT:C39746 Classic Blastoid Variant Mantle Cell Lymphoma False False True NCIT:C39830 Non-Invasive Bladder Urothelial Carcinoma False False True NCIT:C39994 Grade 2 Ovarian Teratoma False False True +NCIT:C40012 Benign Struma Ovarii False False True NCIT:C40087 Benign Ovarian Transitional Cell Tumor False False True NCIT:C40088 Borderline Ovarian Transitional Cell Tumor False False True NCIT:C40089 Malignant Ovarian Transitional Cell Tumor False False True +NCIT:C4009 Non-Functioning Pituitary Gland Neoplasm False False True NCIT:C40091 Ovarian Endometrioid Adenocarcinoma not Otherwise Specified False False True +NCIT:C40092 Ovarian Squamous Cell Tumor False False True NCIT:C40117 Tubal Epithelial Hyperplasia False False True NCIT:C40169 Uterine Corpus Diffuse Leiomyomatosis False False True +NCIT:C40202 Cervical Mucinous Adenocarcinoma, Endocervical-Type False False True +NCIT:C40288 Vulvar Squamous Cell Carcinoma, Keratoacanthoma Type False False True NCIT:C40348 Pleomorphic Breast Carcinoma False False True NCIT:C40380 Radial Scar/Complex Sclerosing Lesion False False True NCIT:C40422 Other Biochemical Pathway False False True @@ -15068,10 +15082,12 @@ NCIT:C41628 DNA Methyltransferase False False True NCIT:C4175 Ceruminous Adenoma False False True NCIT:C41833 Pineocyte False False True NCIT:C4185 Borderline Mucinous Cystadenoma False False True +NCIT:C4191 Breast Intracystic Papilloma False False True NCIT:C42055 Monoclonal Antibody Bombesin-DTPA False False True NCIT:C42056 Monoclonal Antibody Bombesin-ITC-D False False True NCIT:C4206 Granulosa Cell-Theca Cell Tumor False False True NCIT:C4224 Melanoma In Situ False False True +NCIT:C4250 Well Differentiated Liposarcoma False False True NCIT:C42643 Concept Derivation Rule False False True NCIT:C42673 Definition Source False False True NCIT:C42692 Latest Version Indicator False False True @@ -15085,7 +15101,10 @@ NCIT:C42855 Long Name False False True NCIT:C42858 Suture False False True NCIT:C42859 Public Identifier False False True NCIT:C42884 Bone Marrow Stem Cell with Variable Lineage Potential False False True +NCIT:C4294 Benign Mesonephroma False False True +NCIT:C4295 Mesonephric Neoplasm False False True NCIT:C4297 False False True +NCIT:C4303 Myxoid Chondrosarcoma False False True NCIT:C4305 Adamantinoma of Long Bones False False True NCIT:C4307 Dentinoma False False True NCIT:C4312 Malignant Ameloblastoma False False True @@ -15208,6 +15227,7 @@ NCIT:C43811 Technique_Has_Target_Organism False False True NCIT:C43812 Technique_Has_Target_Protein False False True NCIT:C43813 Technique_Is_Used_In_Technique False False True NCIT:C43814 Technique_Uses_Equipment False False True +NCIT:C4383 Erosive Nipple Adenomatosis False False True NCIT:C4399 Salmon Patch Nevus False False True NCIT:C44179 Parameter Value False False True NCIT:C44182 Position Delta False False True @@ -15218,6 +15238,7 @@ NCIT:C44342 Bis(chloroethyl) Nitrosourea False False True NCIT:C44421 N-Nitroso-N-Ethylurea False False True NCIT:C44422 N-Nitroso-N-Methylurea False False True NCIT:C4500 Pericardial Solitary Fibrous Tumor False False True +NCIT:C4501 Malignant Lipomatous Neoplasm False False True NCIT:C4506 Ovarian Papillary Cystadenocarcinoma False False True NCIT:C4513 Ovarian Gynandroblastoma False False True NCIT:C45173 Primary Cutaneous Lymphoma False False True @@ -15273,6 +15294,7 @@ NCIT:C45949 Lactotroph Cell False False True NCIT:C45950 Neoplastic Lactotroph Cell False False True NCIT:C45958 Gonadotroph Cell False False True NCIT:C4631 Grade II Cervical Intraepithelial Neoplasia False False True +NCIT:C4654 Atypical Endometrial Hyperplasia False False True NCIT:C467 Emollient False False True NCIT:C4688 Paget's Disease of the Skin False False True NCIT:C4710 Left Ventricular Ejection Fraction False False True @@ -15636,12 +15658,14 @@ NCIT:C69307 Cease False False True NCIT:C69312 obsolete Regimen_Has_Accepted_Use_For_Disease False False True NCIT:C69403 CTRM_ID False False True NCIT:C69404 DC_Anatomy False False True +NCIT:C6941 Breast Blunt Duct Adenosis False False True NCIT:C6942 Simple Adenosis of the Breast False False True NCIT:C6955 Olfactory Neural Neoplasm False False True NCIT:C6961 Chordoid Glioma of the Third Ventricle False False True NCIT:C6962 Paraganglioma of the Filum Terminale False False True NCIT:C6972 Mesenchymal Non-Meningothelial Tumor of the Central Nervous System False False True NCIT:C6976 Breast Papilloma False False True +NCIT:C6977 Breast Papillomatosis False False True NCIT:C6986 Breast Myoepithelioma False False True NCIT:C6988 Oligoastrocytoma False False True NCIT:C6989 Subependymal Astrocytoma False False True @@ -15650,6 +15674,7 @@ NCIT:C7005 Hemangiopericytoma of the Central Nervous System False False True NCIT:C7031 Appendix Mixed Carcinoid-Adenocarcinoma False False True NCIT:C7040 Central Nervous System Neoplasms by Morphology False False True NCIT:C7044 Intracranial Central Nervous System Neoplasms by Morphology False False True +NCIT:C7047 Functioning Pituitary Gland Neoplasm False False True NCIT:C7050 Meningioma by Morphology False False True NCIT:C70536 50 Percent Tissue Culture Infective Dose False False True NCIT:C7060 Neural Cell Neoplasm False False True @@ -15809,7 +15834,10 @@ NCIT:C78562 Pleural Hemorrhage False False True NCIT:C78818 IL-2/Lptn Loaded Allogeneic Neuroblastoma Cell Vaccine False False True NCIT:C78841 HDAC Inhibitor PCI-24781 False False True NCIT:C78857 Iodine I 131 TM-601 False False True +NCIT:C7909 ACTH-Producing Pituitary Gland Neoplasm False False True +NCIT:C7910 Prolactin-Producing Pituitary Gland Neoplasm False False True NCIT:C79102 HIV Measurement False False True +NCIT:C7911 Growth Hormone-Producing Pituitary Gland Neoplasm False False True NCIT:C79140 Intrahepatic Route of Administration False False True NCIT:C7948 Bronchogenic Adenocarcinoma False False True NCIT:C79600 Intraoperative Hemorrhage False False True @@ -15824,6 +15852,7 @@ NCIT:C80062 Sagopilone False False True NCIT:C80075 Acute Kidney Injury False False True NCIT:C80083 Fetal Growth Retardation False False True NCIT:C80095 Iobenguane Sulfate I-123 False False True +NCIT:C8011 Thyrotroph Pituitary Neuroendocrine Tumor False False True NCIT:C8016 Grade I Salivary Gland Mucoepidermoid Carcinoma False False True NCIT:C80181 Free Non-esterified Fatty Acids Measurement False False True NCIT:C8020 Grade III Salivary Gland Mucoepidermoid Carcinoma False False True @@ -90681,7 +90710,6 @@ NCIT:C17926 Interferon Regulatory Factor 4 False True False NCIT:C179260 Anti-LAG-3 Monoclonal Antibody LBL-007 False True False NCIT:C179261 Anti-GUCY2C CAR-T Cells False True False NCIT:C179262 R. glutinosa/P. suffruticosa/S. chinensis/A. cochinchinensis/P. armeniaca/S. baicalensis/S. sessilifolia Herbal Supplement HL301 False True False -NCIT:C179263 Post-Acute Sequelae of COVID-19 False True False NCIT:C179264 p53 Mutant Reactivator APR-548 False True False NCIT:C179265 SERD ZB-716 False True False NCIT:C179266 Anti-PD-L1 Monoclonal Antibody LP002 False True False @@ -167265,6 +167293,7 @@ NCIT:C161006 Canine Thyroid Gland Medullary Carcinoma True False False NCIT:C162473 Canine Transmissible Venereal Tumor True False False NCIT:C162775 Acute Myeloid Leukemia with Trisomy 8 True False False NCIT:C165469 Colorectal Serrated Polyposis True False False +NCIT:C165671 EWSR1-Negative Small Round Cell Tumor True False False NCIT:C167265 Nasopharyngeal Squamous Cell Carcinoma True False False NCIT:C168519 HER2-Negative Breast Carcinoma True False False NCIT:C170814 Primary Brain Neoplasm True False False @@ -170781,38 +170810,8 @@ NCIT:C97093 Lipodystrophy True False False NCIT:C97110 Spinal Cord Disorder True False False NCIT:C98291 Gonadal Teratoma True False False NCIT:C99055 Sacrococcygeal Teratoma True False False -NCIT:C116779 Spondylitis True False True -NCIT:C123265 X-linked Hypophosphatemic Rickets True False True -NCIT:C131005 Triple A Syndrome True False True -NCIT:C27339 Infectious Otitis Interna True False True -NCIT:C27378 Adult Myxoid Chondrosarcoma True False True -NCIT:C28327 Endocervical Carcinoma True False True -NCIT:C2996 Dysgerminoma True False True -NCIT:C35878 Monoclonal Paraproteinemia True False True -NCIT:C3753 Germinoma True False True -NCIT:C3916 Parathyroid Gland Adenoma True False True -NCIT:C40012 Benign Struma Ovarii True False True -NCIT:C4009 Non-Functioning Pituitary Gland Neoplasm True False True -NCIT:C40092 Ovarian Squamous Cell Tumor True False True -NCIT:C40202 Cervical Mucinous Adenocarcinoma, Endocervical-Type True False True NCIT:C40257 Vaginal Tubular Adenoma True False True -NCIT:C40288 Vulvar Squamous Cell Carcinoma, Keratoacanthoma Type True False True -NCIT:C4191 Breast Intracystic Papilloma True False True -NCIT:C4250 Well Differentiated Liposarcoma True False True -NCIT:C4294 Benign Mesonephroma True False True -NCIT:C4295 Mesonephric Neoplasm True False True -NCIT:C4303 Myxoid Chondrosarcoma True False True -NCIT:C4383 Erosive Nipple Adenomatosis True False True -NCIT:C4501 Malignant Lipomatous Neoplasm True False True -NCIT:C4654 Atypical Endometrial Hyperplasia True False True -NCIT:C6941 Breast Blunt Duct Adenosis True False True -NCIT:C6977 Breast Papillomatosis True False True -NCIT:C7047 Functioning Pituitary Gland Neoplasm True False True NCIT:C75007 Marfan Syndrome Type II True False True -NCIT:C7909 ACTH-Producing Pituitary Gland Neoplasm True False True -NCIT:C7910 Prolactin-Producing Pituitary Gland Neoplasm True False True -NCIT:C7911 Growth Hormone-Producing Pituitary Gland Neoplasm True False True -NCIT:C8011 Thyrotroph Pituitary Neuroendocrine Tumor True False True NCIT:C8998 Medullary Carcinoma True False True NCIT:C101024 Colon Atresia True True False NCIT:C101025 Duodenal Atresia True True False @@ -171923,6 +171922,7 @@ NCIT:C178394 Rhabdoid Tumor Predisposition Syndrome 2 True True False NCIT:C178415 Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis True True False NCIT:C178826 Rothmund-Thomson Syndrome Type 1 True True False NCIT:C178827 Rothmund-Thomson Syndrome Type 2 True True False +NCIT:C179263 Post-Acute Sequelae of COVID-19 True True False NCIT:C179299 Bietti Crystalline Corneoretinal Dystrophy True True False NCIT:C179648 Multiple Organ Dysfunction Syndrome True True False NCIT:C179667 RASopathy True True False diff --git a/src/ontology/reports/ncit_unmapped_terms.tsv b/src/ontology/reports/ncit_unmapped_terms.tsv index 676938ad..5d176789 100644 --- a/src/ontology/reports/ncit_unmapped_terms.tsv +++ b/src/ontology/reports/ncit_unmapped_terms.tsv @@ -2388,7 +2388,6 @@ NCIT:C104031 ENSAT Stage I Adrenal Cortical Carcinoma NCIT:C104032 ENSAT Stage II Adrenal Cortical Carcinoma NCIT:C104033 ENSAT Stage III Adrenal Cortical Carcinoma NCIT:C104034 ENSAT Stage IV Adrenal Cortical Carcinoma -NCIT:C165671 EWSR1-Negative Small Round Cell Tumor NCIT:C177278 EWSR1-SMAD3-Positive Fibroblastic Tumor NCIT:C148398 EZB Diffuse Large B-Cell Lymphoma NCIT:C54262 Ear Carcinoma diff --git a/src/ontology/reports/omim_mapping_status.tsv b/src/ontology/reports/omim_mapping_status.tsv index e5e2b5a8..62afe685 100644 --- a/src/ontology/reports/omim_mapping_status.tsv +++ b/src/ontology/reports/omim_mapping_status.tsv @@ -3,7 +3,6 @@ OMIM:301106 spermatogenic failure, x-linked, 7 False False False OMIM:301107 intellectual developmental disorder, X-linked 111 False False False OMIM:613035 hearing loss, noise-induced, susceptibility to False False False OMIM:620150 epidermolytic hyperkeratosis 2 False False False -OMIM:620151 wolman disease False False False OMIM:620296 autoinflammation with pulmonary and cutaneous vasculitis False False False OMIM:620300 mitochondrial trifunctional protein deficiency 2 False False False OMIM:620303 pituitary hormone deficiency, combined or isolated, 8 False False False @@ -26603,6 +26602,7 @@ OMIM:620141 developmental delay, language impairment, and ocular abnormalities T OMIM:620145 developmental and epileptic encephalopathy 109 True False False OMIM:620148 ichthyosis, annular epidermolytic, 2 True False False OMIM:620149 developmental and epileptic encephalopathy 110 True False False +OMIM:620151 wolman disease True False False OMIM:620152 hypomagnesemia 7, renal, with or without dilated cardiomyopathy True False False OMIM:620153 mosaic variegated aneuploidy syndrome 4 True False False OMIM:620154 oocyte/zygote/embryo maturation arrest 13 True False False diff --git a/src/ontology/reports/omim_unmapped_terms.tsv b/src/ontology/reports/omim_unmapped_terms.tsv index 2b56d146..bdc91a1a 100644 --- a/src/ontology/reports/omim_unmapped_terms.tsv +++ b/src/ontology/reports/omim_unmapped_terms.tsv @@ -65,7 +65,6 @@ OMIM:620353 spermatogenic failure 82 OMIM:620354 spermatogenic failure 83 OMIM:620409 spermatogenic failure 84 OMIM:301106 spermatogenic failure, x-linked, 7 -OMIM:620151 wolman disease OMIM:620415 woolly hair-skin fragility syndrome OMIMPS:109400 OMIMPS:113800 diff --git a/src/ontology/reports/ordo_mapped_deprecated_terms.robot.template.tsv b/src/ontology/reports/ordo_mapped_deprecated_terms.robot.template.tsv index 59645341..13d50475 100644 --- a/src/ontology/reports/ordo_mapped_deprecated_terms.robot.template.tsv +++ b/src/ontology/reports/ordo_mapped_deprecated_terms.robot.template.tsv @@ -1,480 +1,67 @@ mondo_id source_id source ID A oboInOwl:hasDbXref >A oboInOwl:source -MONDO:0000229 Orphanet:101335 MONDO:equivalentObsolete -MONDO:0000481 Orphanet:93962 MONDO:equivalentObsolete -MONDO:0000485 Orphanet:93961 MONDO:equivalentObsolete -MONDO:0000499 Orphanet:415300 MONDO:equivalentObsolete -MONDO:0000704 Orphanet:65279 MONDO:equivalentObsolete -MONDO:0000724 Orphanet:458713 MONDO:equivalentObsolete -MONDO:0000816 Orphanet:411969 MONDO:equivalentObsolete -MONDO:0000820 Orphanet:164 MONDO:equivalentObsolete -MONDO:0001071 Orphanet:319658 MONDO:equivalentObsolete -MONDO:0001134 Orphanet:243761 MONDO:equivalentObsolete -MONDO:0001147 Orphanet:93968 MONDO:equivalentObsolete -MONDO:0001153 Orphanet:459690 MONDO:equivalentObsolete -MONDO:0001187 Orphanet:157980 MONDO:equivalentObsolete -MONDO:0001341 Orphanet:69127 MONDO:equivalentObsolete MONDO:0001807 Orphanet:79211 MONDO:equivalentObsolete -MONDO:0002070 Orphanet:1480 MONDO:equivalentObsolete -MONDO:0002235 Orphanet:98580 MONDO:equivalentObsolete -MONDO:0002305 Orphanet:64738 MONDO:equivalentObsolete -MONDO:0002470 Orphanet:453 MONDO:equivalentObsolete -MONDO:0003233 Orphanet:862 MONDO:equivalentObsolete -MONDO:0003924 Orphanet:99888 MONDO:equivalentObsolete -MONDO:0004277 Orphanet:100642 MONDO:equivalentObsolete -MONDO:0004975 Orphanet:238616 MONDO:equivalentObsolete -MONDO:0005011 Orphanet:206 MONDO:equivalentObsolete -MONDO:0005036 Orphanet:464463 MONDO:equivalentObsolete -MONDO:0005061 Orphanet:415268 MONDO:equivalentObsolete -MONDO:0005090 Orphanet:3140 MONDO:equivalentObsolete -MONDO:0005101 Orphanet:771 MONDO:equivalentObsolete -MONDO:0005105 Orphanet:411533 MONDO:equivalentObsolete -MONDO:0005130 Orphanet:555 MONDO:equivalentObsolete -MONDO:0005147 Orphanet:243377 MONDO:equivalentObsolete -MONDO:0005150 Orphanet:279 MONDO:equivalentObsolete -MONDO:0005180 Orphanet:319705 MONDO:equivalentObsolete -MONDO:0005233 Orphanet:488201 MONDO:equivalentObsolete -MONDO:0005258 Orphanet:106 MONDO:equivalentObsolete -MONDO:0005259 Orphanet:1162 MONDO:equivalentObsolete -MONDO:0005301 Orphanet:802 MONDO:equivalentObsolete -MONDO:0005306 Orphanet:825 MONDO:equivalentObsolete -MONDO:0005342 Orphanet:34145 MONDO:equivalentObsolete -MONDO:0005345 Orphanet:440 MONDO:equivalentObsolete -MONDO:0005349 Orphanet:2794 MONDO:equivalentObsolete -MONDO:0005351 Orphanet:36297 MONDO:equivalentObsolete -MONDO:0005361 Orphanet:73247 MONDO:equivalentObsolete -MONDO:0005382 Orphanet:280110 MONDO:equivalentObsolete -MONDO:0005387 Orphanet:619 MONDO:equivalentObsolete -MONDO:0005404 Orphanet:1983 MONDO:equivalentObsolete -MONDO:0005486 Orphanet:2227 MONDO:equivalentObsolete -MONDO:0005488 Orphanet:3153 MONDO:equivalentObsolete -MONDO:0005546 Orphanet:41842 MONDO:equivalentObsolete -MONDO:0005575 Orphanet:466667 MONDO:equivalentObsolete -MONDO:0005665 Orphanet:2810 MONDO:equivalentObsolete -MONDO:0005712 Orphanet:651 MONDO:equivalentObsolete -MONDO:0005805 Orphanet:430 MONDO:equivalentObsolete -MONDO:0005904 Orphanet:58208 MONDO:equivalentObsolete -MONDO:0006065 Orphanet:319681 MONDO:equivalentObsolete -MONDO:0006460 Orphanet:489 MONDO:equivalentObsolete -MONDO:0006559 Orphanet:387 MONDO:equivalentObsolete -MONDO:0006761 Orphanet:336 MONDO:equivalentObsolete -MONDO:0006802 Orphanet:83449 MONDO:equivalentObsolete -MONDO:0007020 Orphanet:97354 MONDO:equivalentObsolete -MONDO:0007035 Orphanet:924 MONDO:equivalentObsolete -MONDO:0007040 Orphanet:3128 MONDO:equivalentObsolete -MONDO:0007051 Orphanet:965 MONDO:equivalentObsolete -MONDO:0007133 Orphanet:2355 MONDO:equivalentObsolete -MONDO:0007178 Orphanet:1219 MONDO:equivalentObsolete -MONDO:0007180 Orphanet:1831 MONDO:equivalentObsolete -MONDO:0007217 Orphanet:93393 MONDO:equivalentObsolete -MONDO:0007222 Orphanet:93385 MONDO:equivalentObsolete -MONDO:0007275 Orphanet:50838 MONDO:equivalentObsolete -MONDO:0007393 Orphanet:1339 MONDO:equivalentObsolete -MONDO:0007465 Orphanet:1683 MONDO:equivalentObsolete -MONDO:0007476 Orphanet:79142 MONDO:equivalentObsolete -MONDO:0007488 Orphanet:1648 MONDO:equivalentObsolete -MONDO:0007508 Orphanet:3022 MONDO:equivalentObsolete -MONDO:0007513 Orphanet:3391 MONDO:equivalentObsolete -MONDO:0007516 Orphanet:1888 MONDO:equivalentObsolete -MONDO:0007517 Orphanet:1889 MONDO:equivalentObsolete -MONDO:0007661 Orphanet:856 MONDO:equivalentObsolete -MONDO:0007699 Orphanet:855 MONDO:equivalentObsolete -MONDO:0007709 Orphanet:97562 MONDO:equivalentObsolete -MONDO:0007724 Orphanet:2156 MONDO:equivalentObsolete -MONDO:0007741 Orphanet:2190 MONDO:equivalentObsolete -MONDO:0007745 Orphanet:357 MONDO:equivalentObsolete -MONDO:0007761 Orphanet:413 MONDO:equivalentObsolete -MONDO:0007779 Orphanet:306588 MONDO:equivalentObsolete -MONDO:0007809 Orphanet:79504 MONDO:equivalentObsolete -MONDO:0007810 Orphanet:462 MONDO:equivalentObsolete -MONDO:0007811 Orphanet:2267 MONDO:equivalentObsolete -MONDO:0007899 Orphanet:33409 MONDO:equivalentObsolete -MONDO:0007972 Orphanet:45360 MONDO:equivalentObsolete -MONDO:0008225 Orphanet:680 MONDO:equivalentObsolete -MONDO:0008228 Orphanet:120 MONDO:equivalentObsolete -MONDO:0008231 Orphanet:2870 MONDO:equivalentObsolete -MONDO:0008327 Orphanet:529819 MONDO:equivalentObsolete -MONDO:0008383 Orphanet:284130 MONDO:equivalentObsolete -MONDO:0008410 Orphanet:3135 MONDO:equivalentObsolete -MONDO:0008487 Orphanet:3185 MONDO:equivalentObsolete -MONDO:0008490 Orphanet:3450 MONDO:equivalentObsolete -MONDO:0008523 Orphanet:90341 MONDO:equivalentObsolete -MONDO:0008672 Orphanet:3444 MONDO:equivalentObsolete -MONDO:0008685 Orphanet:907 MONDO:equivalentObsolete -MONDO:0008771 Orphanet:171836 MONDO:equivalentObsolete -MONDO:0008885 Orphanet:157788 MONDO:equivalentObsolete -MONDO:0009043 Orphanet:3221 MONDO:equivalentObsolete -MONDO:0009056 Orphanet:1557 MONDO:equivalentObsolete -MONDO:0009128 Orphanet:2650 MONDO:equivalentObsolete -MONDO:0009148 Orphanet:90339 MONDO:equivalentObsolete -MONDO:0009151 Orphanet:320317 MONDO:equivalentObsolete -MONDO:0009180 Orphanet:89840 MONDO:equivalentObsolete -MONDO:0009243 Orphanet:2051 MONDO:equivalentObsolete MONDO:0009317 Orphanet:1245 MONDO:equivalentObsolete -MONDO:0009351 Orphanet:2168 MONDO:equivalentObsolete -MONDO:0009366 Orphanet:314928 MONDO:equivalentObsolete -MONDO:0009436 Orphanet:2113 MONDO:equivalentObsolete -MONDO:0009484 Orphanet:98861 MONDO:equivalentObsolete -MONDO:0009519 Orphanet:99870 MONDO:equivalentObsolete -MONDO:0009554 Orphanet:2453 MONDO:equivalentObsolete -MONDO:0009601 Orphanet:1838 MONDO:equivalentObsolete -MONDO:0009617 Orphanet:52183 MONDO:equivalentObsolete -MONDO:0009726 Orphanet:2615 MONDO:equivalentObsolete -MONDO:0009726 Orphanet:324999 MONDO:equivalentObsolete -MONDO:0009726 Orphanet:325004 MONDO:equivalentObsolete -MONDO:0009755 Orphanet:625 MONDO:equivalentObsolete -MONDO:0009761 Orphanet:79486 MONDO:equivalentObsolete -MONDO:0009770 Orphanet:2506 MONDO:equivalentObsolete -MONDO:0009781 Orphanet:2739 MONDO:equivalentObsolete -MONDO:0009927 Orphanet:2998 MONDO:equivalentObsolete -MONDO:0009969 Orphanet:1092 MONDO:equivalentObsolete -MONDO:0010030 Orphanet:378 MONDO:equivalentObsolete MONDO:0010045 Orphanet:2823 MONDO:equivalentObsolete -MONDO:0010070 Orphanet:93301 MONDO:equivalentObsolete -MONDO:0010074 Orphanet:93303 MONDO:equivalentObsolete -MONDO:0010098 Orphanet:3289 MONDO:equivalentObsolete -MONDO:0010150 Orphanet:67037 MONDO:equivalentObsolete -MONDO:0010207 Orphanet:1409 MONDO:equivalentObsolete -MONDO:0010222 Orphanet:306597 MONDO:equivalentObsolete -MONDO:0010265 Orphanet:79022 MONDO:equivalentObsolete -MONDO:0010302 Orphanet:435 MONDO:equivalentObsolete -MONDO:0010407 Orphanet:3056 MONDO:equivalentObsolete -MONDO:0010407 Orphanet:85328 MONDO:equivalentObsolete -MONDO:0010564 Orphanet:319698 MONDO:equivalentObsolete -MONDO:0010565 Orphanet:319691 MONDO:equivalentObsolete -MONDO:0010573 Orphanet:79482 MONDO:equivalentObsolete -MONDO:0010576 Orphanet:383 MONDO:equivalentObsolete -MONDO:0010663 Orphanet:73220 MONDO:equivalentObsolete -MONDO:0010663 Orphanet:93971 MONDO:equivalentObsolete -MONDO:0010663 Orphanet:93973 MONDO:equivalentObsolete -MONDO:0010663 Orphanet:93974 MONDO:equivalentObsolete -MONDO:0010798 Orphanet:3390 MONDO:equivalentObsolete -MONDO:0010799 Orphanet:168609 MONDO:equivalentObsolete -MONDO:0010896 Orphanet:26823 MONDO:equivalentObsolete -MONDO:0010962 Orphanet:496 MONDO:equivalentObsolete -MONDO:0010971 Orphanet:1849 MONDO:equivalentObsolete MONDO:0010994 Orphanet:2641 MONDO:equivalentObsolete -MONDO:0011064 Orphanet:1421 MONDO:equivalentObsolete -MONDO:0011110 Orphanet:1804 MONDO:equivalentObsolete -MONDO:0011122 Orphanet:521399 MONDO:equivalentObsolete -MONDO:0011125 Orphanet:670 MONDO:equivalentObsolete -MONDO:0011182 Orphanet:35056 MONDO:equivalentObsolete -MONDO:0011303 Orphanet:93213 MONDO:equivalentObsolete -MONDO:0011362 Orphanet:34521 MONDO:equivalentObsolete -MONDO:0011431 Orphanet:99715 MONDO:equivalentObsolete -MONDO:0011688 Orphanet:52428 MONDO:equivalentObsolete -MONDO:0011694 Orphanet:98770 MONDO:equivalentObsolete -MONDO:0011798 Orphanet:157855 MONDO:equivalentObsolete -MONDO:0011827 Orphanet:706 MONDO:equivalentObsolete -MONDO:0011844 Orphanet:210566 MONDO:equivalentObsolete -MONDO:0011849 Orphanet:40050 MONDO:equivalentObsolete -MONDO:0011869 Orphanet:89839 MONDO:equivalentObsolete MONDO:0011910 Orphanet:265 MONDO:equivalentObsolete -MONDO:0011939 Orphanet:50816 MONDO:equivalentObsolete -MONDO:0012049 Orphanet:90649 MONDO:equivalentObsolete -MONDO:0012138 Orphanet:98894 MONDO:equivalentObsolete -MONDO:0012212 Orphanet:97295 MONDO:equivalentObsolete -MONDO:0012438 Orphanet:166068 MONDO:equivalentObsolete -MONDO:0012503 Orphanet:3315 MONDO:equivalentObsolete -MONDO:0013040 Orphanet:93576 MONDO:equivalentObsolete -MONDO:0013041 Orphanet:93580 MONDO:equivalentObsolete -MONDO:0013042 Orphanet:93578 MONDO:equivalentObsolete -MONDO:0013043 Orphanet:93575 MONDO:equivalentObsolete -MONDO:0013044 Orphanet:217023 MONDO:equivalentObsolete -MONDO:0013209 Orphanet:33271 MONDO:equivalentObsolete -MONDO:0013214 Orphanet:449262 MONDO:equivalentObsolete -MONDO:0013225 Orphanet:228429 MONDO:equivalentObsolete -MONDO:0013461 Orphanet:319684 MONDO:equivalentObsolete -MONDO:0013560 Orphanet:231537 MONDO:equivalentObsolete -MONDO:0013577 Orphanet:77243 MONDO:equivalentObsolete -MONDO:0013598 Orphanet:275534 MONDO:equivalentObsolete -MONDO:0013606 Orphanet:280663 MONDO:equivalentObsolete -MONDO:0013621 Orphanet:306507 MONDO:equivalentObsolete -MONDO:0013662 Orphanet:1232 MONDO:equivalentObsolete -MONDO:0014201 Orphanet:369894 MONDO:equivalentObsolete -MONDO:0014249 Orphanet:50920 MONDO:equivalentObsolete -MONDO:0014448 Orphanet:276271 MONDO:equivalentObsolete -MONDO:0015083 Orphanet:100932 MONDO:equivalentObsolete -MONDO:0015091 Orphanet:100990 MONDO:equivalentObsolete -MONDO:0015095 Orphanet:101033 MONDO:equivalentObsolete -MONDO:0015102 Orphanet:101106 MONDO:equivalentObsolete MONDO:0015120 Orphanet:101949 MONDO:equivalentObsolete MONDO:0015163 Orphanet:102373 MONDO:equivalentObsolete MONDO:0015172 Orphanet:103912 MONDO:equivalentObsolete MONDO:0015173 Orphanet:103916 MONDO:equivalentObsolete -MONDO:0015174 Orphanet:103917 MONDO:equivalentObsolete -MONDO:0015217 Orphanet:108985 MONDO:equivalentObsolete MONDO:0015218 Orphanet:108987 MONDO:equivalentObsolete -MONDO:0015255 Orphanet:1256 MONDO:equivalentObsolete -MONDO:0015256 Orphanet:1258 MONDO:equivalentObsolete -MONDO:0015257 Orphanet:1260 MONDO:equivalentObsolete -MONDO:0015288 Orphanet:137586 MONDO:equivalentObsolete MONDO:0015297 Orphanet:137653 MONDO:equivalentObsolete -MONDO:0015308 Orphanet:137871 MONDO:equivalentObsolete -MONDO:0015358 Orphanet:140450 MONDO:equivalentObsolete -MONDO:0015398 Orphanet:141136 MONDO:equivalentObsolete -MONDO:0015424 Orphanet:1420 MONDO:equivalentObsolete -MONDO:0015429 Orphanet:1434 MONDO:equivalentObsolete -MONDO:0015468 Orphanet:1530 MONDO:equivalentObsolete -MONDO:0015474 Orphanet:1549 MONDO:equivalentObsolete -MONDO:0015486 Orphanet:2335 MONDO:equivalentObsolete -MONDO:0015493 Orphanet:156156 MONDO:equivalentObsolete MONDO:0015551 Orphanet:158665 MONDO:equivalentObsolete -MONDO:0015559 Orphanet:158793 MONDO:equivalentObsolete MONDO:0015560 Orphanet:158796 MONDO:equivalentObsolete -MONDO:0015569 Orphanet:162521 MONDO:equivalentObsolete -MONDO:0015589 Orphanet:163895 MONDO:equivalentObsolete -MONDO:0015593 Orphanet:163914 MONDO:equivalentObsolete MONDO:0015594 Orphanet:163918 MONDO:equivalentObsolete MONDO:0015602 Orphanet:163988 MONDO:equivalentObsolete -MONDO:0015732 Orphanet:171208 MONDO:equivalentObsolete -MONDO:0015742 Orphanet:171676 MONDO:equivalentObsolete -MONDO:0015752 Orphanet:171860 MONDO:equivalentObsolete -MONDO:0015838 Orphanet:180118 MONDO:equivalentObsolete -MONDO:0015874 Orphanet:180284 MONDO:equivalentObsolete -MONDO:0015902 Orphanet:181425 MONDO:equivalentObsolete -MONDO:0015907 Orphanet:1819 MONDO:equivalentObsolete -MONDO:0015912 Orphanet:1019 MONDO:equivalentObsolete -MONDO:0015912 Orphanet:1984 MONDO:equivalentObsolete -MONDO:0015912 Orphanet:807 MONDO:equivalentObsolete -MONDO:0015912 Orphanet:850 MONDO:equivalentObsolete MONDO:0015919 Orphanet:182073 MONDO:equivalentObsolete MONDO:0015920 Orphanet:182076 MONDO:equivalentObsolete MONDO:0015937 Orphanet:182214 MONDO:equivalentObsolete MONDO:0015964 Orphanet:183598 MONDO:equivalentObsolete MONDO:0015965 Orphanet:183601 MONDO:equivalentObsolete -MONDO:0015985 Orphanet:1844 MONDO:equivalentObsolete -MONDO:0015994 Orphanet:1877 MONDO:equivalentObsolete -MONDO:0016024 Orphanet:1940 MONDO:equivalentObsolete -MONDO:0016028 Orphanet:1956 MONDO:equivalentObsolete MONDO:0016082 Orphanet:2042 MONDO:equivalentObsolete MONDO:0016111 Orphanet:206659 MONDO:equivalentObsolete MONDO:0016124 Orphanet:206985 MONDO:equivalentObsolete -MONDO:0016161 Orphanet:2081 MONDO:equivalentObsolete -MONDO:0016271 Orphanet:213741 MONDO:equivalentObsolete -MONDO:0016297 Orphanet:216445 MONDO:equivalentObsolete -MONDO:0016298 Orphanet:216452 MONDO:equivalentObsolete -MONDO:0016373 Orphanet:221106 MONDO:equivalentObsolete -MONDO:0016377 Orphanet:221150 MONDO:equivalentObsolete -MONDO:0016420 Orphanet:227786 MONDO:equivalentObsolete -MONDO:0016451 Orphanet:228315 MONDO:equivalentObsolete -MONDO:0016452 Orphanet:228318 MONDO:equivalentObsolete -MONDO:0016469 Orphanet:230845 MONDO:equivalentObsolete -MONDO:0016560 Orphanet:238766 MONDO:equivalentObsolete -MONDO:0016572 Orphanet:2431 MONDO:equivalentObsolete -MONDO:0016583 Orphanet:2454 MONDO:equivalentObsolete -MONDO:0016615 Orphanet:247839 MONDO:equivalentObsolete -MONDO:0016617 Orphanet:247854 MONDO:equivalentObsolete MONDO:0016626 Orphanet:248305 MONDO:equivalentObsolete -MONDO:0016697 Orphanet:251633 MONDO:equivalentObsolete MONDO:0016795 Orphanet:254793 MONDO:equivalentObsolete -MONDO:0016827 Orphanet:2601 MONDO:equivalentObsolete -MONDO:0016857 Orphanet:261559 MONDO:equivalentObsolete -MONDO:0016858 Orphanet:261572 MONDO:equivalentObsolete -MONDO:0016859 Orphanet:261579 MONDO:equivalentObsolete -MONDO:0016980 Orphanet:263355 MONDO:equivalentObsolete -MONDO:0016983 Orphanet:263417 MONDO:equivalentObsolete MONDO:0016997 Orphanet:263676 MONDO:equivalentObsolete -MONDO:0017025 Orphanet:264724 MONDO:equivalentObsolete -MONDO:0017029 Orphanet:264750 MONDO:equivalentObsolete -MONDO:0017036 Orphanet:264955 MONDO:equivalentObsolete -MONDO:0017045 Orphanet:2676 MONDO:equivalentObsolete -MONDO:0017046 Orphanet:2677 MONDO:equivalentObsolete -MONDO:0017106 Orphanet:269200 MONDO:equivalentObsolete -MONDO:0017126 Orphanet:2716 MONDO:equivalentObsolete -MONDO:0017191 Orphanet:276624 MONDO:equivalentObsolete -MONDO:0017192 Orphanet:276627 MONDO:equivalentObsolete -MONDO:0017236 Orphanet:280569 MONDO:equivalentObsolete -MONDO:0017294 Orphanet:284408 MONDO:equivalentObsolete -MONDO:0017336 Orphanet:289527 MONDO:equivalentObsolete MONDO:0017378 Orphanet:2925 MONDO:equivalentObsolete -MONDO:0017399 Orphanet:293848 MONDO:equivalentObsolete -MONDO:0017413 Orphanet:294049 MONDO:equivalentObsolete -MONDO:0017421 Orphanet:294929 MONDO:equivalentObsolete -MONDO:0017422 Orphanet:294931 MONDO:equivalentObsolete -MONDO:0017423 Orphanet:294935 MONDO:equivalentObsolete -MONDO:0017424 Orphanet:294937 MONDO:equivalentObsolete -MONDO:0017425 Orphanet:294939 MONDO:equivalentObsolete -MONDO:0017426 Orphanet:294942 MONDO:equivalentObsolete -MONDO:0017448 Orphanet:294990 MONDO:equivalentObsolete -MONDO:0017449 Orphanet:294992 MONDO:equivalentObsolete -MONDO:0017450 Orphanet:294994 MONDO:equivalentObsolete -MONDO:0017451 Orphanet:294996 MONDO:equivalentObsolete -MONDO:0017452 Orphanet:294998 MONDO:equivalentObsolete -MONDO:0017457 Orphanet:295006 MONDO:equivalentObsolete MONDO:0017458 Orphanet:295008 MONDO:equivalentObsolete MONDO:0017459 Orphanet:295010 MONDO:equivalentObsolete -MONDO:0017472 Orphanet:295038 MONDO:equivalentObsolete -MONDO:0017473 Orphanet:295041 MONDO:equivalentObsolete -MONDO:0017478 Orphanet:295053 MONDO:equivalentObsolete -MONDO:0017479 Orphanet:295055 MONDO:equivalentObsolete -MONDO:0017480 Orphanet:295057 MONDO:equivalentObsolete -MONDO:0017481 Orphanet:295059 MONDO:equivalentObsolete -MONDO:0017482 Orphanet:295061 MONDO:equivalentObsolete -MONDO:0017483 Orphanet:295063 MONDO:equivalentObsolete -MONDO:0017484 Orphanet:295065 MONDO:equivalentObsolete -MONDO:0017485 Orphanet:295067 MONDO:equivalentObsolete -MONDO:0017486 Orphanet:295069 MONDO:equivalentObsolete -MONDO:0017487 Orphanet:295071 MONDO:equivalentObsolete -MONDO:0017488 Orphanet:295073 MONDO:equivalentObsolete -MONDO:0017489 Orphanet:295075 MONDO:equivalentObsolete -MONDO:0017490 Orphanet:295077 MONDO:equivalentObsolete -MONDO:0017491 Orphanet:295079 MONDO:equivalentObsolete -MONDO:0017492 Orphanet:295081 MONDO:equivalentObsolete -MONDO:0017493 Orphanet:295083 MONDO:equivalentObsolete MONDO:0017494 Orphanet:295085 MONDO:equivalentObsolete MONDO:0017495 Orphanet:295087 MONDO:equivalentObsolete -MONDO:0017496 Orphanet:295089 MONDO:equivalentObsolete -MONDO:0017497 Orphanet:295091 MONDO:equivalentObsolete -MONDO:0017498 Orphanet:295093 MONDO:equivalentObsolete -MONDO:0017499 Orphanet:295095 MONDO:equivalentObsolete -MONDO:0017500 Orphanet:295097 MONDO:equivalentObsolete -MONDO:0017501 Orphanet:295099 MONDO:equivalentObsolete -MONDO:0017502 Orphanet:295101 MONDO:equivalentObsolete -MONDO:0017503 Orphanet:295103 MONDO:equivalentObsolete -MONDO:0017504 Orphanet:295105 MONDO:equivalentObsolete -MONDO:0017505 Orphanet:295107 MONDO:equivalentObsolete -MONDO:0017506 Orphanet:295110 MONDO:equivalentObsolete -MONDO:0017507 Orphanet:295112 MONDO:equivalentObsolete -MONDO:0017508 Orphanet:295114 MONDO:equivalentObsolete -MONDO:0017509 Orphanet:295116 MONDO:equivalentObsolete -MONDO:0017510 Orphanet:295118 MONDO:equivalentObsolete -MONDO:0017511 Orphanet:295120 MONDO:equivalentObsolete -MONDO:0017512 Orphanet:295122 MONDO:equivalentObsolete -MONDO:0017513 Orphanet:295124 MONDO:equivalentObsolete -MONDO:0017514 Orphanet:295126 MONDO:equivalentObsolete -MONDO:0017515 Orphanet:295128 MONDO:equivalentObsolete -MONDO:0017516 Orphanet:295130 MONDO:equivalentObsolete -MONDO:0017517 Orphanet:295132 MONDO:equivalentObsolete -MONDO:0017518 Orphanet:295134 MONDO:equivalentObsolete -MONDO:0017519 Orphanet:295136 MONDO:equivalentObsolete -MONDO:0017520 Orphanet:295138 MONDO:equivalentObsolete -MONDO:0017521 Orphanet:295140 MONDO:equivalentObsolete -MONDO:0017522 Orphanet:295142 MONDO:equivalentObsolete -MONDO:0017523 Orphanet:295144 MONDO:equivalentObsolete -MONDO:0017524 Orphanet:295146 MONDO:equivalentObsolete -MONDO:0017525 Orphanet:295148 MONDO:equivalentObsolete -MONDO:0017526 Orphanet:295150 MONDO:equivalentObsolete -MONDO:0017527 Orphanet:295152 MONDO:equivalentObsolete -MONDO:0017528 Orphanet:295154 MONDO:equivalentObsolete -MONDO:0017529 Orphanet:295159 MONDO:equivalentObsolete -MONDO:0017530 Orphanet:295161 MONDO:equivalentObsolete -MONDO:0017531 Orphanet:295163 MONDO:equivalentObsolete -MONDO:0017532 Orphanet:295165 MONDO:equivalentObsolete -MONDO:0017533 Orphanet:295167 MONDO:equivalentObsolete -MONDO:0017534 Orphanet:295169 MONDO:equivalentObsolete -MONDO:0017535 Orphanet:295171 MONDO:equivalentObsolete -MONDO:0017536 Orphanet:295173 MONDO:equivalentObsolete -MONDO:0017537 Orphanet:295175 MONDO:equivalentObsolete -MONDO:0017538 Orphanet:295177 MONDO:equivalentObsolete MONDO:0017539 Orphanet:295179 MONDO:equivalentObsolete MONDO:0017540 Orphanet:295181 MONDO:equivalentObsolete MONDO:0017541 Orphanet:295183 MONDO:equivalentObsolete MONDO:0017542 Orphanet:295185 MONDO:equivalentObsolete -MONDO:0017548 Orphanet:295205 MONDO:equivalentObsolete -MONDO:0017549 Orphanet:295207 MONDO:equivalentObsolete -MONDO:0017550 Orphanet:295209 MONDO:equivalentObsolete -MONDO:0017551 Orphanet:295211 MONDO:equivalentObsolete -MONDO:0017556 Orphanet:295221 MONDO:equivalentObsolete -MONDO:0017557 Orphanet:295223 MONDO:equivalentObsolete -MONDO:0017562 Orphanet:295234 MONDO:equivalentObsolete -MONDO:0017563 Orphanet:295237 MONDO:equivalentObsolete -MONDO:0017616 Orphanet:3062 MONDO:equivalentObsolete -MONDO:0017642 Orphanet:3067 MONDO:equivalentObsolete MONDO:0017655 Orphanet:306762 MONDO:equivalentObsolete -MONDO:0017770 Orphanet:3105 MONDO:equivalentObsolete -MONDO:0017832 Orphanet:314946 MONDO:equivalentObsolete -MONDO:0017887 Orphanet:319314 MONDO:equivalentObsolete MONDO:0017984 Orphanet:3267 MONDO:equivalentObsolete MONDO:0017996 Orphanet:329255 MONDO:equivalentObsolete -MONDO:0018070 Orphanet:338 MONDO:equivalentObsolete MONDO:0018104 Orphanet:3460 MONDO:equivalentObsolete -MONDO:0018107 Orphanet:35061 MONDO:equivalentObsolete -MONDO:0018110 Orphanet:35064 MONDO:equivalentObsolete -MONDO:0018111 Orphanet:35065 MONDO:equivalentObsolete -MONDO:0018122 Orphanet:352487 MONDO:equivalentObsolete MONDO:0018138 Orphanet:352740 MONDO:equivalentObsolete -MONDO:0018154 Orphanet:35688 MONDO:equivalentObsolete -MONDO:0018267 Orphanet:370114 MONDO:equivalentObsolete MONDO:0018285 Orphanet:371054 MONDO:equivalentObsolete MONDO:0018286 Orphanet:371064 MONDO:equivalentObsolete -MONDO:0018420 Orphanet:401825 MONDO:equivalentObsolete -MONDO:0018491 Orphanet:422519 MONDO:equivalentObsolete -MONDO:0018503 Orphanet:423781 MONDO:equivalentObsolete -MONDO:0018563 Orphanet:435623 MONDO:equivalentObsolete -MONDO:0018665 Orphanet:448348 MONDO:equivalentObsolete -MONDO:0018708 Orphanet:457252 MONDO:equivalentObsolete MONDO:0018722 Orphanet:458841 MONDO:equivalentObsolete -MONDO:0018962 Orphanet:620 MONDO:equivalentObsolete -MONDO:0018989 Orphanet:64740 MONDO:equivalentObsolete -MONDO:0019103 Orphanet:71269 MONDO:equivalentObsolete MONDO:0019116 Orphanet:717 MONDO:equivalentObsolete -MONDO:0019172 Orphanet:77 MONDO:equivalentObsolete -MONDO:0019206 Orphanet:79132 MONDO:equivalentObsolete -MONDO:0019297 Orphanet:79383 MONDO:equivalentObsolete MONDO:0019348 Orphanet:82004 MONDO:equivalentObsolete MONDO:0019389 Orphanet:83648 MONDO:equivalentObsolete -MONDO:0019397 Orphanet:84096 MONDO:equivalentObsolete -MONDO:0019401 Orphanet:84271 MONDO:equivalentObsolete MONDO:0019410 Orphanet:85196 MONDO:equivalentObsolete -MONDO:0019417 Orphanet:85318 MONDO:equivalentObsolete -MONDO:0019426 Orphanet:85330 MONDO:equivalentObsolete -MONDO:0019520 Orphanet:89832 MONDO:equivalentObsolete -MONDO:0019563 Orphanet:90290 MONDO:equivalentObsolete -MONDO:0019649 Orphanet:93206 MONDO:equivalentObsolete -MONDO:0019650 Orphanet:93207 MONDO:equivalentObsolete -MONDO:0019651 Orphanet:93209 MONDO:equivalentObsolete -MONDO:0019652 Orphanet:93214 MONDO:equivalentObsolete -MONDO:0019653 Orphanet:93216 MONDO:equivalentObsolete -MONDO:0019654 Orphanet:93217 MONDO:equivalentObsolete -MONDO:0019655 Orphanet:93218 MONDO:equivalentObsolete -MONDO:0019656 Orphanet:93220 MONDO:equivalentObsolete MONDO:0019657 Orphanet:93221 MONDO:equivalentObsolete MONDO:0019658 Orphanet:93222 MONDO:equivalentObsolete -MONDO:0019723 Orphanet:93550 MONDO:equivalentObsolete -MONDO:0019724 Orphanet:93551 MONDO:equivalentObsolete -MONDO:0019738 Orphanet:93579 MONDO:equivalentObsolete -MONDO:0019752 Orphanet:93682 MONDO:equivalentObsolete -MONDO:0019760 Orphanet:93937 MONDO:equivalentObsolete -MONDO:0019765 Orphanet:93942 MONDO:equivalentObsolete -MONDO:0019770 Orphanet:93951 MONDO:equivalentObsolete MONDO:0019774 Orphanet:93970 MONDO:equivalentObsolete MONDO:0019776 Orphanet:93972 MONDO:equivalentObsolete MONDO:0019779 Orphanet:93975 MONDO:equivalentObsolete -MONDO:0019809 Orphanet:95449 MONDO:equivalentObsolete -MONDO:0019821 Orphanet:95484 MONDO:equivalentObsolete -MONDO:0019826 Orphanet:95493 MONDO:equivalentObsolete MONDO:0019847 Orphanet:95701 MONDO:equivalentObsolete MONDO:0019894 Orphanet:96136 MONDO:equivalentObsolete MONDO:0019899 Orphanet:96152 MONDO:equivalentObsolete -MONDO:0019940 Orphanet:966 MONDO:equivalentObsolete -MONDO:0019946 Orphanet:97231 MONDO:equivalentObsolete -MONDO:0019986 Orphanet:97555 MONDO:equivalentObsolete MONDO:0019987 Orphanet:97556 MONDO:equivalentObsolete -MONDO:0019995 Orphanet:97927 MONDO:equivalentObsolete MONDO:0020092 Orphanet:98345 MONDO:equivalentObsolete -MONDO:0020119 Orphanet:98464 MONDO:equivalentObsolete -MONDO:0020134 Orphanet:98520 MONDO:equivalentObsolete -MONDO:0020146 Orphanet:98554 MONDO:equivalentObsolete MONDO:0020149 Orphanet:98558 MONDO:equivalentObsolete MONDO:0020150 Orphanet:98559 MONDO:equivalentObsolete -MONDO:0020160 Orphanet:98569 MONDO:equivalentObsolete -MONDO:0020163 Orphanet:98572 MONDO:equivalentObsolete -MONDO:0020164 Orphanet:98573 MONDO:equivalentObsolete MONDO:0020168 Orphanet:98577 MONDO:equivalentObsolete MONDO:0020170 Orphanet:98579 MONDO:equivalentObsolete -MONDO:0020172 Orphanet:98581 MONDO:equivalentObsolete -MONDO:0020173 Orphanet:98582 MONDO:equivalentObsolete -MONDO:0020174 Orphanet:98583 MONDO:equivalentObsolete -MONDO:0020175 Orphanet:98584 MONDO:equivalentObsolete -MONDO:0020176 Orphanet:98585 MONDO:equivalentObsolete -MONDO:0020177 Orphanet:98586 MONDO:equivalentObsolete -MONDO:0020178 Orphanet:98587 MONDO:equivalentObsolete -MONDO:0020179 Orphanet:98588 MONDO:equivalentObsolete -MONDO:0020180 Orphanet:98590 MONDO:equivalentObsolete -MONDO:0020181 Orphanet:98591 MONDO:equivalentObsolete MONDO:0020182 Orphanet:98592 MONDO:equivalentObsolete -MONDO:0020183 Orphanet:98593 MONDO:equivalentObsolete MONDO:0020185 Orphanet:98595 MONDO:equivalentObsolete MONDO:0020186 Orphanet:98596 MONDO:equivalentObsolete MONDO:0020187 Orphanet:98597 MONDO:equivalentObsolete @@ -482,15 +69,10 @@ MONDO:0020188 Orphanet:98598 MONDO:equivalentObsolete MONDO:0020189 Orphanet:98599 MONDO:equivalentObsolete MONDO:0020190 Orphanet:98600 MONDO:equivalentObsolete MONDO:0020191 Orphanet:98601 MONDO:equivalentObsolete -MONDO:0020193 Orphanet:98603 MONDO:equivalentObsolete -MONDO:0020196 Orphanet:98608 MONDO:equivalentObsolete MONDO:0020199 Orphanet:98611 MONDO:equivalentObsolete MONDO:0020200 Orphanet:98612 MONDO:equivalentObsolete MONDO:0020201 Orphanet:98613 MONDO:equivalentObsolete MONDO:0020202 Orphanet:98614 MONDO:equivalentObsolete -MONDO:0020203 Orphanet:98615 MONDO:equivalentObsolete -MONDO:0020204 Orphanet:98616 MONDO:equivalentObsolete -MONDO:0020205 Orphanet:98617 MONDO:equivalentObsolete MONDO:0020208 Orphanet:98620 MONDO:equivalentObsolete MONDO:0020217 Orphanet:98632 MONDO:equivalentObsolete MONDO:0020218 Orphanet:98633 MONDO:equivalentObsolete @@ -499,13 +81,10 @@ MONDO:0020221 Orphanet:98637 MONDO:equivalentObsolete MONDO:0020227 Orphanet:98643 MONDO:equivalentObsolete MONDO:0020229 Orphanet:98645 MONDO:equivalentObsolete MONDO:0020231 Orphanet:98647 MONDO:equivalentObsolete -MONDO:0020238 Orphanet:98657 MONDO:equivalentObsolete MONDO:0020241 Orphanet:98662 MONDO:equivalentObsolete -MONDO:0020242 Orphanet:98664 MONDO:equivalentObsolete MONDO:0020243 Orphanet:98665 MONDO:equivalentObsolete MONDO:0020244 Orphanet:98666 MONDO:equivalentObsolete -MONDO:0020247 Orphanet:98669 MONDO:equivalentObsolete -MONDO:0020252 Orphanet:98682 MONDO:equivalentObsolete +MONDO:0020245 Orphanet:98667 MONDO:equivalentObsolete MONDO:0020259 Orphanet:98689 MONDO:equivalentObsolete MONDO:0020260 Orphanet:98690 MONDO:equivalentObsolete MONDO:0020261 Orphanet:98691 MONDO:equivalentObsolete @@ -527,50 +106,10 @@ MONDO:0020279 Orphanet:98711 MONDO:equivalentObsolete MONDO:0020280 Orphanet:98712 MONDO:equivalentObsolete MONDO:0020281 Orphanet:98713 MONDO:equivalentObsolete MONDO:0020282 Orphanet:98714 MONDO:equivalentObsolete -MONDO:0020322 Orphanet:98837 MONDO:equivalentObsolete -MONDO:0020353 Orphanet:98941 MONDO:equivalentObsolete -MONDO:0020384 Orphanet:99022 MONDO:equivalentObsolete -MONDO:0020406 Orphanet:99066 MONDO:equivalentObsolete -MONDO:0020421 Orphanet:99085 MONDO:equivalentObsolete -MONDO:0020422 Orphanet:99086 MONDO:equivalentObsolete -MONDO:0020424 Orphanet:99088 MONDO:equivalentObsolete -MONDO:0020439 Orphanet:99108 MONDO:equivalentObsolete -MONDO:0020473 Orphanet:99645 MONDO:equivalentObsolete -MONDO:0020477 Orphanet:99706 MONDO:equivalentObsolete -MONDO:0020489 Orphanet:99763 MONDO:equivalentObsolete -MONDO:0020517 Orphanet:99871 MONDO:equivalentObsolete -MONDO:0020518 Orphanet:99872 MONDO:equivalentObsolete -MONDO:0020519 Orphanet:99873 MONDO:equivalentObsolete -MONDO:0020520 Orphanet:99874 MONDO:equivalentObsolete -MONDO:0020521 Orphanet:99875 MONDO:equivalentObsolete -MONDO:0020522 Orphanet:99876 MONDO:equivalentObsolete -MONDO:0020523 Orphanet:99877 MONDO:equivalentObsolete -MONDO:0020524 Orphanet:99878 MONDO:equivalentObsolete -MONDO:0020531 Orphanet:99900 MONDO:equivalentObsolete MONDO:0020742 Orphanet:1317 MONDO:equivalentObsolete MONDO:0020871 Orphanet:623 MONDO:equivalentObsolete -MONDO:0021001 Orphanet:139498 MONDO:equivalentObsolete MONDO:0021062 Orphanet:306539 MONDO:equivalentObsolete -MONDO:0021228 Orphanet:36414 MONDO:equivalentObsolete -MONDO:0021569 Orphanet:264 MONDO:equivalentObsolete -MONDO:0022316 Orphanet:1408 MONDO:equivalentObsolete -MONDO:0022414 Orphanet:1526 MONDO:equivalentObsolete MONDO:0022921 Orphanet:2861 MONDO:equivalentObsolete MONDO:0023072 Orphanet:1939 MONDO:equivalentObsolete -MONDO:0023204 Orphanet:2060 MONDO:equivalentObsolete -MONDO:0023243 Orphanet:1535 MONDO:equivalentObsolete -MONDO:0023540 Orphanet:1137 MONDO:equivalentObsolete -MONDO:0024418 Orphanet:2033 MONDO:equivalentObsolete -MONDO:0024573 Orphanet:155 MONDO:equivalentObsolete -MONDO:0040671 Orphanet:362 MONDO:equivalentObsolete -MONDO:0041052 Orphanet:466673 MONDO:equivalentObsolete MONDO:0043007 Orphanet:330197 MONDO:equivalentObsolete -MONDO:0043096 Orphanet:2161 MONDO:equivalentObsolete -MONDO:0043108 Orphanet:1575 MONDO:equivalentObsolete -MONDO:0043537 Orphanet:1002 MONDO:equivalentObsolete -MONDO:0044631 Orphanet:494348 MONDO:equivalentObsolete MONDO:0044683 Orphanet:498700 MONDO:equivalentObsolete -MONDO:0100076 Orphanet:459696 MONDO:equivalentObsolete -MONDO:0100161 Orphanet:89939 MONDO:equivalentObsolete -MONDO:0100300 Orphanet:464293 MONDO:equivalentObsolete -MONDO:0100428 Orphanet:56965 MONDO:equivalentObsolete diff --git a/src/ontology/reports/ordo_mapping_status.tsv b/src/ontology/reports/ordo_mapping_status.tsv index 6fa10d56..5616fc48 100644 --- a/src/ontology/reports/ordo_mapping_status.tsv +++ b/src/ontology/reports/ordo_mapping_status.tsv @@ -1,28 +1,17 @@ subject_id subject_label is_mapped is_excluded is_deprecated -Orphanet:183481 Genetic mixed dermis disorder False False False -Orphanet:183616 Genetic neuro-ophthalmological disease False False False -Orphanet:254685 Gestational trophoblastic disease False False False -Orphanet:269553 Genetic cerebral malformation False False False -Orphanet:269557 Genetic posterior fossa malformation False False False Orphanet:269560 Genetic cerebellar malformation False False False Orphanet:269570 Genetic syndrome with a Dandy-Walker malformation as a major feature False False False -Orphanet:306644 Complication after organ transplantation False False False -Orphanet:319719 Autoinflammatory syndrome of childhood False False False Orphanet:324939 Periodic fever syndrome of childhood False False False Orphanet:324942 Pyogenic autoinflammatory syndrome of childhood False False False Orphanet:324950 Granulomatous autoinflammatory syndrome of childhood False False False Orphanet:324953 Unclassified autoinflammatory syndrome of childhood False False False Orphanet:324960 Unexplained periodic fever syndrome of childhood False False False -Orphanet:325697 Genetic 46,XX disorder of sex development False False False -Orphanet:325706 Genetic 46,XY disorder of sex development False False False Orphanet:325713 Genetic 46,XY disorder of sex development of endocrine origin False False False -Orphanet:448426 Genetic primary orthostatic hypotension False False False Orphanet:481671 Type 1 interferonopathy of childhood False False False Orphanet:519288 Rare disorder with corneal involvement as a major feature False False False Orphanet:519290 Rare inflammatory/autoimmune corneal disorder False False False Orphanet:519296 Rare disorder with pigmented sclera False False False Orphanet:519300 Isolated chorioretinal dystrophy False False False -Orphanet:519302 Isolated macular dystrophy False False False Orphanet:519313 Rare macular disorder False False False Orphanet:519317 Rare retinal vasculopathy False False False Orphanet:519321 Syndromic chorioretinal dystrophy False False False @@ -55,14 +44,8 @@ Orphanet:522564 Syndromic genetic keratoconus False False False Orphanet:522566 Rare genetic inflammatory/autoimmune corneal disorder False False False Orphanet:522574 Rare genetic macular disorder False False False Orphanet:522576 Rare genetic retinal vasculopathy False False False -Orphanet:576742 Genetic hemolytic uremic syndrome False False False Orphanet:617310 Rare disorder due to unbalanced inter-twin blood transfusion False False False Orphanet:617313 Rare disorder due to inadequate sharing of the placenta False False False -Orphanet:98738 Neurological muscular channelopathy due to a genetic sodium channel defect False False False -Orphanet:98739 Neurological muscular channelopathy due to a genetic chloride channel defect False False False -Orphanet:98740 Neurological muscular channelopathy due to a genetic calcium channel defect False False False -Orphanet:98741 Neurological muscular channelopathy due to a genetic potassium channel defect False False False -Orphanet:98742 Neurological muscular channelopathy due to a genetic ryanodine receptor defect False False False Orphanet:137698 Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk False True False Orphanet:158048 Hemophagocytic syndrome associated with an infection False True False Orphanet:182222 Rare systemic disease False True False @@ -197,17 +180,25 @@ Orphanet:100039 Familial pseudohyperkalemia type 1 False True True Orphanet:100040 OBSOLETE: Familial pseudohyperkalemia type 2 False True True Orphanet:100041 OBSOLETE: Familial pseudohyperkalemia, Cardiff type False True True Orphanet:100072 OBSOLETE: True vascular thoracic outlet syndrome False True True +Orphanet:1002 NON RARE IN EUROPE: Cluster headache False True True +Orphanet:100642 NON RARE IN EUROPE: Gonorrhea False True True +Orphanet:100932 OBSOLETE: Nuclear oculomotor paralysis False True True +Orphanet:100990 OBSOLETE: Autosomal dominant spastic paraplegia type 9 False True True Orphanet:101022 Mediterranean macrothrombocytopenia False True True +Orphanet:101033 OBSOLETE: Peters anomaly-cataract syndrome False True True Orphanet:101036 OBSOLETE: Zlotogura-Martinez syndrome False True True Orphanet:101042 OBSOLETE: Taussig-Bing syndrome False True True Orphanet:101052 OBSOLETE: Microlissencephaly type B False True True Orphanet:1011 Alopecia-hypogonadism-extrapyramidal syndrome False True True +Orphanet:101106 OBSOLETE: Non-secreting chemodectoma False True True Orphanet:101107 Spinocerebellar ataxia type 22 False True True Orphanet:101151 Dystonia 14 False True True +Orphanet:101335 OBSOLETE: Indian tick typhus False True True Orphanet:101336 OBSOLETE: Kenya tick typhus False True True Orphanet:101337 OBSOLETE: Marseilles fever False True True Orphanet:101338 OBSOLETE: Mediterranean spotted fever False True True Orphanet:101356 OBSOLETE: Lissencephaly-demyelinating axonal neuropathy syndrome False True True +Orphanet:1019 Epstein syndrome False True True Orphanet:101978 OBSOLETE: Disease with severe reduction in all serum immunoglobulin isotypes with profoundly decreased or absent B cells False True True Orphanet:101980 OBSOLETE: Disease with isotype or light chain deficiencies with normal numbers of B cells False True True Orphanet:101982 OBSOLETE: Disease with severe reduction in serum IgA and IgG with normal/elevated IgM and normal numbers of B cells False True True @@ -218,29 +209,44 @@ Orphanet:103 OBSOLETE: Genetic optic atrophy False True True Orphanet:1032 OBSOLETE: Hyperdibasic aminoaciduria type 1 False True True Orphanet:1034 OBSOLETE: Amniotic bands False True True Orphanet:103915 OBSOLETE: Immunoproliferative small intestinal disease False True True +Orphanet:103917 OBSOLETE: Autoimmune enteropathy type 3 False True True Orphanet:1044 OBSOLETE: Anemia due to adenosine triphosphatase deficiency False True True Orphanet:1057 OBSOLETE: Intracranial aneurysms-multiple congenital anomalies syndrome False True True +Orphanet:106 NON RARE IN EUROPE: Autism False True True Orphanet:1060 Systemic cystic angiomatosis-Seip syndrome False True True Orphanet:1088 OBSOLETE: Short stature-heart defect-craniofacial anomalies syndrome False True True +Orphanet:108985 OBSOLETE: Non-syndromic developmental defect of the eye False True True +Orphanet:1092 Renal-genital-middle ear anomalies False True True Orphanet:1102 Anophthalmia-hypothalamo-pituitary insufficiency syndrome False True True Orphanet:1115 OBSOLETE: Recessive aplasia cutis congenita of limbs False True True +Orphanet:1137 OBSOLETE: Pulmonary aortic stenosis obstructive uropathy False True True Orphanet:1139 OBSOLETE: Arthrogryposis-epileptic seizures-migrational brain disorder syndrome False True True Orphanet:1153 OBSOLETE: Transient neonatal arthrogryposis False True True Orphanet:1155 OBSOLETE: Arthrogryposis due to muscular dystrophy False True True +Orphanet:1162 NON RARE IN EUROPE: Asperger syndrome False True True Orphanet:1167 OBSOLETE: Facial asymmetry-temporal seizures syndrome False True True +Orphanet:120 NON RARE IN EUROPE: Pernicious anemia False True True Orphanet:1211 OBSOLETE: Atrichia-mental and growth delay syndrome False True True +Orphanet:1219 Aurocephalosyndactyly False True True +Orphanet:1232 NON RARE IN EUROPE: Barrett esophagus False True True Orphanet:1235 OBSOLETE: Ectodermal dysplasia-absent dermatoglyphs syndrome False True True Orphanet:1239 OBSOLETE: Behr syndrome False True True Orphanet:1244 NON RARE IN EUROPE: Bicuspid aortic valve False True True Orphanet:1249 OBSOLETE: Binswanger disease False True True Orphanet:1250 OBSOLETE: Blaichman syndrome False True True Orphanet:1251 Blepharofacioskeletal syndrome False True True +Orphanet:1256 OBSOLETE: Blepharophimosis-radioulnar synostosis syndrome False True True +Orphanet:1258 OBSOLETE: Blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome False True True +Orphanet:1260 OBSOLETE: Sino-auricular heart block False True True Orphanet:1266 Dermato-cardio-skeletal syndrome, Borrone type False True True Orphanet:1271 Bowen syndrome False True True Orphanet:1301 Bronchiectasis-oligospermia syndrome False True True +Orphanet:1339 OBSOLETE: Cranioacrofacial syndrome False True True +Orphanet:137586 OBSOLETE: Herpes simplex virus keratitis False True True Orphanet:1376 OBSOLETE: Congenital cataract-ichthyosis syndrome False True True Orphanet:137658 Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome False True True Orphanet:137862 Martínez-Frías syndrome False True True +Orphanet:137871 OBSOLETE: Laminopathy type Decaudain-Vigouroux False True True Orphanet:137923 OBSOLETE: Cervicofacial lymphatic malformation False True True Orphanet:138063 OBSOLETE: Syndrome associated with Pierre Robin syndrome False True True Orphanet:138066 OBSOLETE: Pierre Robin syndrome associated with miscellaneous anomalies False True True @@ -264,55 +270,88 @@ Orphanet:139373 OBSOLETE: Recessive hereditary methemoglobinemia type 1 False Tr Orphanet:139380 OBSOLETE: Recessive hereditary methemoglobinemia type 2 False True True Orphanet:139420 OBSOLETE: Secondary acute transverse myelitis False True True Orphanet:139477 Al-Gazali-Dattani syndrome False True True +Orphanet:139498 NON RARE IN EUROPE: Hemochromatosis type 1 False True True Orphanet:1396 OBSOLETE: Cerebrorenodigital syndrome False True True Orphanet:140428 OBSOLETE: Hereditary iron overload with neurologic manifestation False True True Orphanet:140432 OBSOLETE: Hereditary iron overload with anemia False True True +Orphanet:140450 OBSOLETE: Hereditary motor and sensory neuropathy False True True Orphanet:140462 OBSOLETE: X-linked recessive hereditary axonal motor and sensory neuropathy False True True Orphanet:140500 OBSOLETE: Neurological channelopathy False True True Orphanet:140503 OBSOLETE: Channelopathy False True True +Orphanet:1408 Hair defect-photosensitivity-intellectual disability syndrome False True True +Orphanet:1409 Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome False True True +Orphanet:141136 Otomandibular syndrome False True True Orphanet:1417 OBSOLETE: Platyspondylic lethal chondrodysplasia False True True +Orphanet:1420 OBSOLETE: Lethal chondrodysplasia, Moerman type False True True +Orphanet:1421 OBSOLETE: Lethal chondrodysplasia, Seller type False True True Orphanet:1428 OBSOLETE: Familial chondromalacia patellae False True True Orphanet:1432 Autosomal dominant chorioretinopathy-microcephaly syndrome False True True +Orphanet:1434 OBSOLETE: Choroideremia-hypopituitarism syndrome False True True Orphanet:1474 Colobomatous-microphthalmia-heart disease-hearing loss syndrome False True True +Orphanet:1480 NON RARE IN EUROPE: Ventricular septal defect False True True Orphanet:1492 OBSOLETE: Corpus callosum agenesis-double urinary collecting system-trigonocephaly syndrome False True True Orphanet:1499 OBSOLETE: Cortada-Koussef-Matsumoto syndrome False True True Orphanet:151 OBSOLETE: Familial renal cell carcinoma False True True +Orphanet:1526 OBSOLETE: Craniosynostosis-synostoses-hypertensive nephropathy syndrome False True True +Orphanet:1530 OBSOLETE: Craniosynostosis-cataract syndrome False True True Orphanet:1533 OBSOLETE: Craniosynostosis-fibular aplasia syndrome False True True Orphanet:1534 OBSOLETE: Craniosynostosis-radial aplasia, Imaizumi type False True True +Orphanet:1535 Craniosynostosis-dysmorphism-brachydactyly syndrome False True True +Orphanet:1549 NON RARE IN EUROPE: Cryptosporidiosis False True True +Orphanet:155 NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy False True True +Orphanet:1557 Cutis verticis gyrata-intellectual disability syndrome False True True Orphanet:156071 OBSOLETE: Keratoconus False True True +Orphanet:156156 Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy False True True Orphanet:1564 Dandy-Walker malformation-facial hemangioma syndrome False True True Orphanet:156723 Piepkorn dysplasia False True True Orphanet:1569 De Sanctis-Cacchione syndrome False True True +Orphanet:1575 OBSOLETE: Infantile striatothalamic degeneration False True True Orphanet:1577 OBSOLETE: Infantile thalamic degeneration False True True +Orphanet:157788 Hypospadias-hypertelorism-coloboma and deafness syndrome False True True +Orphanet:157855 HARP syndrome False True True +Orphanet:157980 NON RARE IN EUROPE: Bladder cancer False True True Orphanet:158661 OBSOLETE: Suprabasal epidermolysis bullosa simplex False True True +Orphanet:158793 OBSOLETE: Lymphoadenopathic mastocytosis with eosinophilia False True True Orphanet:158799 OBSOLETE: Aleukemic mast cell leukemia False True True Orphanet:1611 OBSOLETE: Deletion 20p False True True Orphanet:1625 OBSOLETE: Deletion 4q False True True +Orphanet:162521 OBSOLETE: Congenital nasal pyriform aperture stenosis with holoprosencephaly False True True Orphanet:163528 OBSOLETE: Acute cutaneous lupus erythematosus False True True Orphanet:163673 Spondyloepiphyseal dysplasia, Byers type False True True Orphanet:163678 OBSOLETE: Unclassified spondylometaphyseal dysplasia False True True Orphanet:163892 OBSOLETE: Limbic encephalitis False True True +Orphanet:163895 OBSOLETE: Paraneoplastic limbic encephalitis False True True Orphanet:163898 OBSOLETE: Classic paraneoplastic limbic encephalitis False True True Orphanet:163903 OBSOLETE: Limbic encephalitis associated with antibodies to cell membrane antigens False True True Orphanet:163908 OBSOLETE: Limbic encephalitis with LGI1 antibodies False True True +Orphanet:163914 OBSOLETE: Limbic encephalitis with nCMAgs antibodies False True True Orphanet:163924 OBSOLETE: Non-herpetic acute limbic encephalitis False True True Orphanet:163953 X-linked intellectual disability, Raymond type False True True Orphanet:163982 X-linked intellectual disability-spastic quadriparesis syndrome False True True +Orphanet:164 NON RARE IN EUROPE: Cerebral cavernous malformations False True True +Orphanet:1648 NON RARE IN EUROPE: Dementia with Lewy body False True True Orphanet:1651 OBSOLETE: Dennis-Cohen syndrome False True True Orphanet:1654 OBSOLETE: Natal teeth-intestinal pseudoobstruction-patent ductus syndrome False True True Orphanet:165961 OBSOLETE: Subcutaneous myiasis False True True Orphanet:165994 Pituitary resistance to thyroid hormone False True True +Orphanet:166068 Pontocerebellar hypoplasia type 5 False True True Orphanet:1664 OBSOLETE: Embryonary disorganization syndrome False True True Orphanet:166457 OBSOLETE: Other forms of non-paraneoplastic limbic encephalitis False True True Orphanet:1674 Digitorenocerebral syndrome False True True Orphanet:1678 Dincsoy-Salih-Patel syndrome False True True Orphanet:1680 OBSOLETE: Spastic diplegia, infantile type False True True +Orphanet:1683 Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome False True True Orphanet:168448 Spondyloepimetaphyseal dysplasia, Bieganski type False True True +Orphanet:168609 Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure False True True Orphanet:168972 Kahrizi syndrome False True True Orphanet:169446 OBSOLETE: Autosomal recessive hyper-IgE syndrome False True True Orphanet:171201 OBSOLETE: High isolated anorectal malformation False True True +Orphanet:171208 OBSOLETE: Intermediate isolated anorectal malformation False True True Orphanet:171215 OBSOLETE: Low isolated anorectal malformation False True True +Orphanet:171676 NON RARE IN EUROPE: Periventricular leukomalacia False True True Orphanet:171714 Amish infantile epilepsy syndrome False True True +Orphanet:171836 Amelogenesis imperfecta-gingival hyperplasia syndrome False True True +Orphanet:171860 OBSOLETE:Intellectual disability-cataracts-kyphosis syndrome False True True Orphanet:172973 OBSOLETE: Congenital myopathy with protein accumulation False True True Orphanet:172979 OBSOLETE: Congenital myopathy with central nuclei False True True Orphanet:172982 OBSOLETE: Congenital myopathy with fiber size variation False True True @@ -325,21 +364,41 @@ Orphanet:178503 Dursun syndrome False True True Orphanet:1789 OBSOLETE: Craniofacial dysostosis-arthrogryposis-progeroid appearance syndrome False True True Orphanet:1792 Humerospinal dysostosis False True True Orphanet:1800 OBSOLETE: Craniofaciocervical osteoglyphic dysplasia False True True +Orphanet:180118 NON RARE IN EUROPE: Cordiform uterus False True True +Orphanet:180284 NON RARE IN EUROPE: Benign ductal tumor of breast False True True +Orphanet:1804 Dyssegmental dysplasia-glaucoma syndrome False True True +Orphanet:181425 OBSOLETE: Rare major hypertriglyceridemia False True True +Orphanet:1819 OBSOLETE: Epimetaphyseal skeletal dysplasia False True True Orphanet:1823 OBSOLETE: Localized epiphyseal dysplasia False True True +Orphanet:1831 De Hauwere syndrome False True True Orphanet:183604 OBSOLETE: Rare genetic glaucoma False True True Orphanet:183672 OBSOLETE: Common variable immunodeficiency due to TNFR deficiency False True True Orphanet:183716 OBSOLETE: Other complex syndrome of primary immunodeficiency False True True +Orphanet:1838 Metaphyseal dysplasia without hypotrichosis False True True +Orphanet:1844 OBSOLETE: Bone dysplasia, Azouz type False True True +Orphanet:1849 OBSOLETE: Infundibulopelvic stenosis-multicystic kidney syndrome False True True Orphanet:1850 Renal dysplasia-megalocystis-sirenomelia syndrome False True True Orphanet:1863 NON RARE IN EUROPE: Trochlear dysplasia False True True Orphanet:1864 OBSOLETE: Congenital valvular dysplasia False True True +Orphanet:1877 Muscular dystrophy-white matter spongiosis syndrome False True True +Orphanet:1888 Ectrodactyly-ectodermal dysplasia without clefting syndrome False True True +Orphanet:1889 Ectrodactyly-cleft palate syndrome False True True Orphanet:1894 Ectrodactyly-spina bifida-cardiopathy syndrome False True True Orphanet:189424 OBSOLETE: ACTH-independent Cushing syndrome due to bilateral adrenocortical hyperplasia False True True Orphanet:194 OBSOLETE: Ocular coloboma False True True +Orphanet:1940 Shoulder and thorax deformity-congenital heart disease syndrome False True True +Orphanet:1956 OBSOLETE: Erythromelalgia False True True Orphanet:1981 Fanconi syndrome-ichthyosis-dysmorphism syndrome False True True +Orphanet:1983 NON RARE IN EUROPE: Chronic fatigue syndrome False True True +Orphanet:1984 Fechtner syndrome False True True Orphanet:2005 OBSOLETE: Laryngo-tracheo-esophageal cleft-pulmonary hypoplasia syndrome False True True Orphanet:2029 Multiple non-ossifying fibromatosis False True True +Orphanet:2033 OBSOLETE: Multifocal muscular fibrosis-obstructed vessels syndrome False True True +Orphanet:2051 Fraser-like syndrome False True True Orphanet:2054 OBSOLETE: Osteochondritis of tarsal/metatarsal bone False True True Orphanet:2055 Growth deficiency-brachydactyly-dysmorphism syndrome False True True +Orphanet:206 NON RARE IN EUROPE: Crohn disease False True True +Orphanet:2060 Fukuda-Miyanomae-Nakata syndrome False True True Orphanet:206606 OBSOLETE: Other muscle weakness and/or chronic muscle pain False True True Orphanet:206610 OBSOLETE: Chronic muscular fatigue and/or chronic muscle pain False True True Orphanet:206616 OBSOLETE: Acquired metabolic neuropathy False True True @@ -350,19 +409,29 @@ Orphanet:207003 OBSOLETE: Endocrine myopathy False True True Orphanet:207006 OBSOLETE: Acquired amyloid myopathy False True True Orphanet:207009 OBSOLETE: Acquired rod-body myopathy False True True Orphanet:207031 OBSOLETE: Rare disease with corpus callosum agenesis associated with peripheral neuropathy False True True +Orphanet:2081 Cerebral gigantism-jaw cysts syndrome False True True Orphanet:208600 OBSOLETE: Papillary fibroelastoma of the heart False True True Orphanet:2087 Glomerulonephritis-sparse hair-telangiectasis syndrome False True True Orphanet:208994 OBSOLETE: Other ganglionopathy related to autoimmune diseases False True True Orphanet:209886 OBSOLETE: Familial juvenile hyperuricemic nephropathy type 1 False True True Orphanet:209893 NON RARE IN EUROPE: Congenital isolated thyroxine-binding globulin deficiency False True True Orphanet:2099 OBSOLETE: Grix-Blankenship-Peterson syndrome False True True +Orphanet:210566 Myoclonic dystonia 15 False True True Orphanet:210592 OBSOLETE: Giant infantile hemangioma False True True Orphanet:2112 OBSOLETE: Follicular hamartoma-alopecia-cystic fibrosis syndrome False True True +Orphanet:2113 Congenital hypothalamic hamartoma syndrome False True True Orphanet:2120 OBSOLETE: Heckenlively syndrome False True True Orphanet:2124 Cavernous hemangiomas of face-supraumbilical midline raphe syndrome False True True Orphanet:2125 Sacral hemangiomas-multiple congenital abnormalities syndrome False True True Orphanet:2129 OBSOLETE: Hemihypertrophy-intestinal web-corneal opacity syndrome False True True +Orphanet:213741 OBSOLETE: Adenoid cystic carcinoma of the corpus uteri False True True +Orphanet:2156 OBSOLETE: Hirsutism-skeletal dysplasia-intellectual disability syndrome False True True +Orphanet:2161 OBSOLETE: Holoacardius amorphus False True True +Orphanet:216445 Prelingual non-syndromic genetic deafness False True True +Orphanet:216452 Postlingual non-syndromic genetic deafness False True True +Orphanet:2168 Homocarnosinosis False True True Orphanet:216989 Autosomal dominant dystrophic epidermolysis bullosa, Pasini type False True True +Orphanet:217023 OBSOLETE: Atypical hemolytic uremic syndrome with thrombomodulin anomaly False True True Orphanet:217031 NON RARE IN EUROPE: Obesity due to MC3R deficiency False True True Orphanet:217034 Male infertility with normal virilization due to meiosis defect False True True Orphanet:217046 OBSOLETE: Autosomal recessive childhood-onset cortical cataract False True True @@ -373,23 +442,38 @@ Orphanet:2174 Hunter-Carpenter-McDonald syndrome False True True Orphanet:217410 OBSOLETE: Circumscribed lymphatic malformation False True True Orphanet:217601 OBSOLETE: Hypertrophic cardiomyopathy due to intensive athletic training False True True Orphanet:218432 OBSOLETE: Familial restrictive cardiomyopathy type 3 False True True +Orphanet:2190 OBSOLETE: Congenital hydronephrosis False True True +Orphanet:221106 OBSOLETE: Isolated facial myokymia False True True +Orphanet:221150 OBSOLETE: Pitt-Hopkins-like syndrome False True True +Orphanet:2227 NON RARE IN EUROPE: Hypodontia False True True Orphanet:2243 Hypopituitarism-micropenis-cleft lip/palate syndrome False True True Orphanet:2244 Hypopituitarism-microphthalmia syndrome False True True Orphanet:2245 OBSOLETE: Hypopituitarism-postaxial polydactyly syndrome False True True Orphanet:2258 OBSOLETE: Congenital unilateral pulmonary hypoplasia False True True Orphanet:225968 OBSOLETE: Inherited predisposition to essential thrombocythemia False True True Orphanet:226310 OBSOLETE: Peripheral hypothyroidism False True True +Orphanet:2267 OBSOLETE: Ichthyosis-cheek-eyebrow syndrome False True True +Orphanet:227786 OBSOLETE: Familial flecked retinopathy False True True +Orphanet:228315 OBSOLETE: Idiopathic hypersomnia with long sleep time False True True +Orphanet:228318 OBSOLETE: Idiopathic hypersomnia without long sleep time False True True Orphanet:2284 OBSOLETE: Primary T cell immunodeficiency False True True Orphanet:228407 Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome False True True Orphanet:228418 OBSOLETE: Microcephaly-seizures-developmental delay syndrome False True True +Orphanet:228429 Generalized congenital lipodystrophy with myopathy False True True Orphanet:2286 OBSOLETE: Solitary median maxillary central incisor syndrome False True True +Orphanet:230845 Vascular-like classical Ehlers-Danlos syndrome False True True Orphanet:231205 OBSOLETE: Common variable immunodeficiency without known genetic defect False True True Orphanet:231256 Beta-thalassemia-trichothiodystrophy syndrome False True True +Orphanet:231537 Hermansky-Pudlak syndrome type 8 False True True +Orphanet:2335 NON RARE IN EUROPE: Isolated keratoconus False True True Orphanet:2343 OBSOLETE: Isolated cloverleaf skull syndrome False True True Orphanet:2352 Kozlowski-Brown-Hardwick syndrome False True True +Orphanet:2355 Kumar-Levick syndrome False True True Orphanet:235835 OBSOLETE: Congenital vascular bone syndrome with limb overgrowth False True True Orphanet:235838 OBSOLETE: Congenital vascular bone syndrome with limb shortening False True True +Orphanet:238616 NON RARE IN EUROPE: Alzheimer disease False True True Orphanet:238691 OBSOLETE: Congenital liver hemangioma False True True +Orphanet:238766 Ptosis-syndactyly-learning difficulties syndrome False True True Orphanet:2389 Lewis-Pashayan syndrome False True True Orphanet:240266 OBSOLETE: Systemic non-Langerhans cell histiocytosis False True True Orphanet:240843 OBSOLETE: Acenocoumarol toxicity False True True @@ -483,15 +567,24 @@ Orphanet:241039 OBSOLETE: Susceptibility to toxic epidermal necrolysis due to ph Orphanet:241041 OBSOLETE: Susceptibility to toxic epidermal necrolysis due to phosphenytoin treatment False True True Orphanet:241045 OBSOLETE: Warfarine dose selection in the treatment of venous thrombosis and atrial fibrillation False True True Orphanet:2419 Lymphedema-ptosis syndrome False True True +Orphanet:2431 Central bilateral macrogyria False True True +Orphanet:243377 NON RARE IN EUROPE: Diabetes mellitus type 1 False True True +Orphanet:243761 NON RARE IN EUROPE: Essential hypertension False True True Orphanet:2452 OBSOLETE: Vascular malposition False True True +Orphanet:2453 Malpuech syndrome False True True +Orphanet:2454 OBSOLETE: Familial intestinal malrotation-facial anomalies syndrome False True True Orphanet:2458 OBSOLETE: Mandibulofacial dysostosis-deafness-postaxial polydactyly syndrome False True True Orphanet:2474 OBSOLETE: McLain-Dekaban syndrome False True True +Orphanet:247839 OBSOLETE: Oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies False True True Orphanet:247846 OBSOLETE: Oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies False True True +Orphanet:247854 OBSOLETE: Rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies False True True Orphanet:247861 OBSOLETE: Rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies False True True Orphanet:247871 OBSOLETE: Vitiligo-associated autoimmune disease False True True Orphanet:2486 Transverse limb deficiency-hemangioma syndrome False True True +Orphanet:2506 Michels syndrome False True True Orphanet:2507 OBSOLETE: Mickleson syndrome False True True Orphanet:251316 OBSOLETE: Unclassified overlapping connective tissue disease False True True +Orphanet:251633 OBSOLETE: Low-grade ependymoma False True True Orphanet:251891 OBSOLETE: Atypical teratoid/rhabdoid tumor False True True Orphanet:252 OBSOLETE: Spondyloepimetaphyseal dysplasia False True True Orphanet:2535 OBSOLETE: Microcornea-corectopia-macular hypoplasia syndrome False True True @@ -504,7 +597,12 @@ Orphanet:255199 OBSOLETE: Sporadic Leigh syndrome False True True Orphanet:255225 OBSOLETE: Maternally-inherited mitochondrial hypertrophic cardiomyopathy False True True Orphanet:2569 Moore-Federman syndrome False True True Orphanet:2580 OBSOLETE: Shoulder and girdle defects-familial intellectual disability syndrome False True True +Orphanet:2601 OBSOLETE: Myopathy-growth delay-intellectual disability-hypospadias syndrome False True True +Orphanet:2615 Nakajo-Nishimura syndrome False True True Orphanet:261512 OBSOLETE: Retinitis pigmentosa and intellectual disability due to monosomy Xp11.3 False True True +Orphanet:261559 OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome False True True +Orphanet:261572 OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome False True True +Orphanet:261579 OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to copy number variations False True True Orphanet:261697 OBSOLETE: Anomaly of chromosome 1 False True True Orphanet:261700 OBSOLETE: Anomaly of chromosome 2 False True True Orphanet:261703 OBSOLETE: Anomaly of chromosome 3 False True True @@ -538,25 +636,39 @@ Orphanet:263049 OBSOLETE: Uniparental disomy of chromosome 14 False True True Orphanet:263054 OBSOLETE: Uniparental disomy of chromosome 15 False True True Orphanet:263059 OBSOLETE: Uniparental disomy of chromosome 20 False True True Orphanet:263064 OBSOLETE: Uniparental disomy of chromosome 21 False True True +Orphanet:263355 OBSOLETE: ATR-X-related syndrome False True True +Orphanet:263417 Bartter syndrome with hypocalcemia False True True Orphanet:263711 OBSOLETE: X chromosome anomaly False True True Orphanet:263798 OBSOLETE: Y chromosomal anomaly False True True +Orphanet:264 Autosomal dominant limb-girdle muscular dystrophy type 1B False True True Orphanet:2640 Lethal short-limb dwarfism, McAlister-Crane type False True True +Orphanet:264724 OBSOLETE: Langerhans cell histiocytosis specific to childhood False True True +Orphanet:264750 OBSOLETE: Langerhans cell histiocytosis specific to adulthood False True True Orphanet:2649 Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome False True True +Orphanet:264955 OBSOLETE: Langerhans cell histiocytosis in childhood and adulthood False True True +Orphanet:2650 OBSOLETE: Dwarfism-intellectual disability-eye abnormality syndrome False True True Orphanet:2654 Syndesmodysplasic dwarfism False True True Orphanet:2661 Dwarfism-tall vertebrae syndrome False True True Orphanet:2675 OBSOLETE: Neuroaxonal dystrophy-renal tubular acidosis syndrome False True True +Orphanet:2676 Neuroectodermal-endocrine syndrome False True True +Orphanet:2677 OBSOLETE: Neuroepithelioma False True True Orphanet:2679 OBSOLETE: Infantile axonal neuropathy False True True +Orphanet:26823 NON RARE IN EUROPE: Pigment-dispersion syndrome False True True Orphanet:2687 Neutropenia-hyperlymphocytosis with large granular lymphocytes syndrome False True True Orphanet:268871 OBSOLETE: Primary syringomyelia/hydromyelia False True True Orphanet:268874 OBSOLETE: Congenital hydromyelia False True True Orphanet:2689 Intermittent neutropenia False True True Orphanet:2691 Nevo syndrome False True True +Orphanet:269200 OBSOLETE: Retrocerebellar cyst False True True Orphanet:2694 OBSOLETE: Epidermal nevus-vitamin D-resistant rickets syndrome False True True Orphanet:2705 OBSOLETE: Oculocerebral dysplasia False True True Orphanet:2706 OBSOLETE: Oculocerebroacral syndrome False True True Orphanet:2708 OBSOLETE: Oculocerebroosseous syndrome False True True +Orphanet:2716 OBSOLETE: Oculo-skeletal-renal syndrome False True True Orphanet:2731 Taurodontia-absent teeth-sparse hair syndrome False True True +Orphanet:2739 Onycho-tricho-dysplasia-neutropenia syndrome False True True Orphanet:2742 OBSOLETE: Ophthalmoplegia-myalgia-tubular aggregates syndrome False True True +Orphanet:275534 OBSOLETE: Myostatin-related muscle hypertrophy False True True Orphanet:276249 OBSOLETE: Xeroderma pigmentosum complementation group A False True True Orphanet:276252 OBSOLETE: Xeroderma pigmentosum complementation group B False True True Orphanet:276255 OBSOLETE: Xeroderma pigmentosum complementation group C False True True @@ -564,36 +676,136 @@ Orphanet:276258 OBSOLETE: Xeroderma pigmentosum complementation group D False Tr Orphanet:276261 OBSOLETE: Xeroderma pigmentosum complementation group E False True True Orphanet:276264 OBSOLETE: Xeroderma pigmentosum complementation group F False True True Orphanet:276267 OBSOLETE: Xeroderma pigmentosum complementation group G False True True +Orphanet:276271 NON RARE IN EUROPE: Familial dysalbuminemic hyperthyroxinemia False True True Orphanet:276402 OBSOLETE: Limbic encephalitis with caspr2 antibodies False True True Orphanet:2765 OBSOLETE: Hypertrichotic osteochondrodysplasia False True True +Orphanet:276624 OBSOLETE: Sporadic pheochromocytoma False True True +Orphanet:276627 OBSOLETE: Sporadic secreting paraganglioma False True True Orphanet:2775 Autosomal recessive carpotarsal osteolysis False True True Orphanet:2778 OBSOLETE: Juvenile chronic recurrent multifocal osteomyelitis False True True Orphanet:278 OBSOLETE: Corticobasal degeneration False True True +Orphanet:279 NON RARE IN EUROPE: Age-related macular degeneration False True True +Orphanet:2794 NON RARE IN EUROPE: Familial otosclerosis False True True +Orphanet:280110 NON RARE IN EUROPE: Paget disease of bone False True True +Orphanet:280569 OBSOLETE: Rapidly progressive glomerulonephritis False True True +Orphanet:280663 Hermansky-Pudlak syndrome type 9 False True True +Orphanet:2810 NON RARE IN EUROPE: Idiopathic facial palsy False True True Orphanet:281234 OBSOLETE: Congenital ichthyosis with trichothiodystrophy False True True Orphanet:2816 Spastic paraplegia-epilepsy-intellectual disability syndrome False True True Orphanet:2829 Partington-Anderson syndrome False True True Orphanet:2837 Pellagra-like skin rash-neurological manifestations syndrome False True True Orphanet:284113 OBSOLETE: Prediction of susceptibility to adverse reaction due to mercaptopurine False True True +Orphanet:284130 NON RARE IN EUROPE: Rheumatoid arthritis False True True +Orphanet:284408 OBSOLETE: Glycerol kinase deficiency, infantile form False True True Orphanet:28455 OBSOLETE: Pancreatic beta cell agenesis with neonatal diabetes mellitus False True True Orphanet:2853 Serpentine fibula-polycystic kidneys syndrome False True True Orphanet:2860 OBSOLETE: Preeyasombat-Varavithya syndrome False True True Orphanet:2864 OBSOLETE: Short stature-prognathism-short femoral necks syndrome False True True +Orphanet:2870 NON RARE IN EUROPE: Peyronie syndrome False True True Orphanet:289395 NON RARE IN EUROPE: Secondary Sjögren syndrome False True True Orphanet:2894 OBSOLETE: Pilotto syndrome False True True Orphanet:2895 Pinsky-Di George-Harley syndrome False True True +Orphanet:289527 OBSOLETE: Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency False True True Orphanet:293190 OBSOLETE: Pleomorphic undifferentiated sarcoma False True True Orphanet:293838 Fatal infantile encephalopathy-pulmonary hypertension syndrome False True True +Orphanet:293848 Frontotemporal dementia, right temporal atrophy variant False True True +Orphanet:294049 Reunion Island Larsen-like syndrome False True True +Orphanet:294929 OBSOLETE: Terminal limb defects False True True +Orphanet:294931 OBSOLETE: Adactyly of hand False True True +Orphanet:294935 OBSOLETE: Split hand or/and split foot malformation False True True +Orphanet:294937 OBSOLETE: Brachydactyly False True True +Orphanet:294939 OBSOLETE: Preaxial polydactyly of fingers False True True +Orphanet:294942 OBSOLETE: Postaxial polydactyly of fingers False True True Orphanet:294961 OBSOLETE: Syndromes with synostoses of limbs False True True +Orphanet:294990 OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb False True True +Orphanet:294992 OBSOLETE: Split hand False True True +Orphanet:294994 OBSOLETE: Split foot False True True +Orphanet:294996 OBSOLETE: Brachydactyly of fingers False True True +Orphanet:294998 OBSOLETE: Brachydactyly of toes False True True Orphanet:2950 Triphalangeal thumb-polysyndactyly syndrome False True True +Orphanet:295006 OBSOLETE: Preaxial polydactyly of toes False True True +Orphanet:295038 OBSOLETE: Patella aplasia/hypoplasia, unilateral False True True +Orphanet:295041 OBSOLETE: Patella aplasia/hypoplasia, bilateral False True True +Orphanet:295053 OBSOLETE: Amelia of upper limb, unilateral False True True +Orphanet:295055 OBSOLETE: Amelia of upper limb, bilateral False True True +Orphanet:295057 OBSOLETE: Amelia of lower limb, unilateral False True True +Orphanet:295059 OBSOLETE: Amelia of lower limb, bilateral False True True +Orphanet:295061 OBSOLETE: Humeral agenesis/hypoplasia, unilateral False True True +Orphanet:295063 OBSOLETE: Humeral agenesis/hypoplasia, bilateral False True True +Orphanet:295065 OBSOLETE: Femoral agenesis/hypoplasia, unilateral False True True +Orphanet:295067 OBSOLETE: Femoral agenesis/hypoplasia, bilateral False True True +Orphanet:295069 OBSOLETE: Radial hemimelia, unilateral False True True +Orphanet:295071 OBSOLETE: Radial hemimelia, bilateral False True True +Orphanet:295073 OBSOLETE: Ulnar hemimelia, bilateral False True True +Orphanet:295075 OBSOLETE: Ulnar hemimelia, unilateral False True True +Orphanet:295077 OBSOLETE: Tibial hemimelia, unilateral False True True +Orphanet:295079 OBSOLETE: Tibial hemimelia, bilateral False True True +Orphanet:295081 OBSOLETE: Fibular hemimelia, unilateral False True True +Orphanet:295083 OBSOLETE: Fibular hemimelia, bilateral False True True +Orphanet:295089 OBSOLETE: Congenital absence of thigh and lower leg with foot present, unilateral False True True +Orphanet:295091 OBSOLETE: Congenital absence of thigh and lower leg with foot present, bilateral False True True +Orphanet:295093 OBSOLETE: Congenital absence of both forearm and hand, unilateral False True True +Orphanet:295095 OBSOLETE: Congenital absence of both forearm and hand, bilateral False True True +Orphanet:295097 OBSOLETE: Congenital absence of both lower leg and foot, unilateral False True True +Orphanet:295099 OBSOLETE: Congenital absence of both lower leg and foot, bilateral False True True +Orphanet:295101 OBSOLETE: Acheiria, unilateral False True True +Orphanet:295103 OBSOLETE: Acheiria, bilateral False True True +Orphanet:295105 OBSOLETE: Apodia, unilateral False True True +Orphanet:295107 OBSOLETE: Apodia, bilateral False True True +Orphanet:295110 OBSOLETE: Congenital absence/hypoplasia of thumb, unilateral False True True +Orphanet:295112 OBSOLETE: Congenital absence/hypoplasia of thumb, bilateral False True True +Orphanet:295114 OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb, bilateral False True True +Orphanet:295116 OBSOLETE: Adactyly of foot, unilateral False True True +Orphanet:295118 OBSOLETE: Adactyly of foot, bilateral False True True +Orphanet:295120 OBSOLETE: Split hand, unilateral False True True +Orphanet:295122 OBSOLETE: Split hand, bilateral False True True +Orphanet:295124 OBSOLETE: Split foot, unilateral False True True +Orphanet:295126 OBSOLETE: Split foot, bilateral False True True +Orphanet:295128 OBSOLETE: Brachydactyly of fingers, unilateral False True True +Orphanet:295130 OBSOLETE: Brachydactyly of fingers, bilateral False True True +Orphanet:295132 OBSOLETE: Brachydactyly of toes, unilateral False True True +Orphanet:295134 OBSOLETE: Brachydactyly of toes, bilateral False True True +Orphanet:295136 OBSOLETE: Symbrachydactyly of hand and foot, unilateral False True True +Orphanet:295138 OBSOLETE: Symbrachydactyly of hand and foot, bilateral False True True +Orphanet:295140 OBSOLETE: Hyperphalangy, unilateral False True True +Orphanet:295142 OBSOLETE: Hyperphalangy, bilateral False True True +Orphanet:295144 OBSOLETE: Polydactyly of a biphalangeal thumb, unilateral False True True +Orphanet:295146 OBSOLETE: Polydactyly of a biphalangeal thumb, bilateral False True True +Orphanet:295148 OBSOLETE: Polydactyly of a triphalangeal thumb, unilateral False True True +Orphanet:295150 OBSOLETE: Polydactyly of a triphalangeal thumb, bilateral False True True +Orphanet:295152 OBSOLETE: Polydactyly of an index finger, unilateral False True True +Orphanet:295154 OBSOLETE: Polydactyly of an index finger, bilateral False True True +Orphanet:295159 OBSOLETE: Polysyndactyly, unilateral False True True +Orphanet:295161 OBSOLETE: Polysyndactyly, bilateral False True True +Orphanet:295163 OBSOLETE: Postaxial polydactyly type A, unilateral False True True +Orphanet:295165 OBSOLETE: Postaxial polydactyly type A, bilateral False True True +Orphanet:295167 OBSOLETE: Postaxial polydactyly type B, unilateral False True True +Orphanet:295169 OBSOLETE: Postaxial polydactyly type B, bilateral False True True +Orphanet:295171 OBSOLETE: Central polydactyly of fingers, unilateral False True True +Orphanet:295173 OBSOLETE: Central polydactyly of fingers, bilateral False True True +Orphanet:295175 OBSOLETE: Preaxial polydactyly of toes, unilateral False True True +Orphanet:295177 OBSOLETE: Preaxial polydactyly of toes, bilateral False True True +Orphanet:295205 OBSOLETE: Humero-radio-ulnar synostosis, unilateral False True True +Orphanet:295207 OBSOLETE: Humero-radio-ulnar synostosis, bilateral False True True +Orphanet:295209 OBSOLETE: Humero-radial synostosis, unilateral False True True +Orphanet:295211 OBSOLETE: Humero-radial synostosis, bilateral False True True +Orphanet:295221 OBSOLETE: Madelung deformity, unilateral False True True +Orphanet:295223 OBSOLETE: Madelung deformity, bilateral False True True +Orphanet:295234 OBSOLETE: Congenital patella dislocation, unilateral False True True +Orphanet:295237 OBSOLETE: Congenital patella dislocation, bilateral False True True Orphanet:2981 Pseudo-Zellweger syndrome False True True +Orphanet:2998 Carnevale syndrome False True True Orphanet:300337 OBSOLETE: Congenital blindness due to retinal non-attachment False True True Orphanet:3013 Radiculomegaly of canine teeth- congenital cataract False True True +Orphanet:3022 Rapp-Hodgkin syndrome False True True Orphanet:3029 NON RARE IN EUROPE: Horseshoe kidney False True True Orphanet:3043 OBSOLETE: Intellectual disability-unusual facies syndrome False True True Orphanet:3046 OBSOLETE: Intellectual disability-unusual facies, Davis-Lafer type False True True Orphanet:3050 OBSOLETE: Intellectual disability-hypotonia-skin hyperpigmentation syndrome False True True +Orphanet:3056 X-linked intellectual disability, Brooks type False True True Orphanet:3059 X-linked intellectual disability, Gu type False True True Orphanet:3061 OBSOLETE: X-linked intellectual disability, Raynaud type False True True +Orphanet:3062 OBSOLETE: X-linked intellectual disability, Schutz type False True True Orphanet:3064 OBSOLETE: X-linked intellectual disability, Wittner type False True True Orphanet:306436 OBSOLETE: Congenital sucrase-isomaltase deficiency with starch intolerance False True True Orphanet:306446 OBSOLETE: Congenital sucrase-isomaltase deficiency with minimal starch tolerance False True True @@ -601,36 +813,60 @@ Orphanet:306462 OBSOLETE: Congenital sucrase-isomaltase deficiency without starc Orphanet:306474 OBSOLETE: Congenital sucrase-isomaltase deficiency with starch and lactose intolerance False True True Orphanet:306486 OBSOLETE: Congenital sucrase-isomaltase deficiency without sucrose intolerance False True True Orphanet:3065 X-linked intellectual disability-monoamine oxidase A metabolism anomaly syndrome False True True +Orphanet:306507 LAMB2-related infantile-onset nephrotic syndrome False True True Orphanet:306519 OBSOLETE: Genetic primary hypomagnesemia with hypocalciuria False True True Orphanet:306522 OBSOLETE: Genetic primary hypomagnesemia with normocalciuria False True True Orphanet:306561 OBSOLETE: Autosomal dominant childhood-onset cortical cataract False True True Orphanet:306566 OBSOLETE: Susceptibility to myopathies due to statin treatment False True True Orphanet:306574 OBSOLETE: Methotrexate dose selection False True True +Orphanet:306588 OBSOLETE: Autosomal dominant Opitz G/BBB syndrome False True True +Orphanet:306597 OBSOLETE: X-linked Opitz G/BBB syndrome False True True +Orphanet:3067 OBSOLETE: Intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome False True True Orphanet:3084 Mirhosseini-Holmes-Walton syndrome False True True Orphanet:308573 OBSOLETE: Glycogen storage disease due to acid maltase deficiency, juvenile onset False True True Orphanet:308604 OBSOLETE: Glycogen storage disease due to acid maltase deficiency, adult onset False True True Orphanet:3087 Retinohepatoendocrinologic syndrome False True True Orphanet:309139 OBSOLETE: Mitochondrial disorder due to a transcription or a translation defect of mitochondrial DNA False True True +Orphanet:3105 Robinow-like syndrome False True True Orphanet:3106 Robinow-Sorauf syndrome False True True Orphanet:3112 Patella aplasia-coxa vara-tarsal synostosis syndrome False True True Orphanet:3118 Rudiger syndrome False True True Orphanet:3122 OBSOLETE: Sinus node disease-myopia syndrome False True True Orphanet:3123 Brittle hair syndrome, Sabinas type False True True +Orphanet:3128 OBSOLETE: Sakati-Nyhan syndrome False True True Orphanet:3133 OBSOLETE: Say-Field-Coldwell syndrome False True True +Orphanet:3135 NON RARE IN EUROPE: Scheuermann's disease False True True +Orphanet:3140 NON RARE IN EUROPE: Schizophrenia False True True +Orphanet:314928 NON RARE IN EUROPE: Normal pressure hydrocephalus False True True +Orphanet:314946 OBSOLETE: Mycobacterium xenopi infection False True True +Orphanet:3153 NON RARE IN EUROPE: Adolescent idiopathic scoliosis False True True Orphanet:3160 OBSOLETE: Vascular disruption sequence False True True +Orphanet:3185 NON RARE IN EUROPE: Polycystic ovary syndrome False True True +Orphanet:319314 OBSOLETE: Renal cell carcinoma associated with neuroblastoma False True True Orphanet:3195 Sternal malformation-vascular dysplasia syndrome False True True +Orphanet:319658 NON RARE IN EUROPE: Unexplained intellectual disability False True True +Orphanet:319681 NON RARE IN EUROPE: Lactase non-persistence in adulthood False True True +Orphanet:319684 NON RARE IN EUROPE: Inosine triphosphate pyrophosphatase deficiency False True True +Orphanet:319691 NON RARE IN EUROPE: Partial color blindness, protan type False True True +Orphanet:319698 NON RARE IN EUROPE: Partial color blindness, deutan type False True True +Orphanet:319705 NON RARE IN EUROPE: Parkinson disease False True True +Orphanet:320317 OBSOLETE: Cleft lip/palate-ectodermal dysplasia syndrome False True True Orphanet:3212 Autosomal dominant optic atrophy and congenital deafness False True True Orphanet:3213 Deafness-opticoacoustic nerve atrophy-dementia syndrome False True True Orphanet:3215 OBSOLETE: Deafness-white hair-contractures-papillomas syndrome False True True +Orphanet:3221 Generalized resistance to thyroid hormone False True True Orphanet:3228 OBSOLETE: Neurosensory deafness-pituitary dwarfism syndrome False True True Orphanet:3229 OBSOLETE: Deafness-peripheral neuropathy-arterial disease syndrome False True True Orphanet:323 NON RARE IN EUROPE: FG syndrome phenotypic spectrum False True True Orphanet:324982 OBSOLETE: Adult-onset SAPHO syndrome False True True Orphanet:324989 OBSOLETE: Juvenile-onset SAPHO syndrome False True True +Orphanet:324999 JMP syndrome False True True +Orphanet:325004 CANDLE syndrome False True True Orphanet:3271 Radio-ulnar synostosis-retinal pigment abnormalities syndrome False True True Orphanet:3274 Granulomatous arthritis of childhood False True True Orphanet:328269 OBSOLETE: Rare bone disease with limb reduction defect False True True Orphanet:3284 OBSOLETE: Tachycardia-hypertension-microphthalmos-hyperglycinuria syndrome False True True +Orphanet:3289 NON RARE IN EUROPE: Taurodontism False True True Orphanet:329206 OBSOLETE: Congenital muscular dystrophy-muscle hypertrophy-severe intellectual disability syndrome False True True Orphanet:329252 OBSOLETE: Spondylocostal dysostosis-hypospadias-intellectual disability syndrome False True True Orphanet:329341 OBSOLETE: Limbic encephalitis with DPP6 antibodies False True True @@ -639,33 +875,49 @@ Orphanet:330006 NON RARE IN EUROPE: Macular telangiectasia type 2 False True Tru Orphanet:330009 OBSOLETE: Poliomyelitis in patients with immunodeficiencies deemed at risk False True True Orphanet:3311 OBSOLETE: Infantile symmetrical thalamic degeneration False True True Orphanet:3313 OBSOLETE: Intellectual disability-microcephaly-unusual facies syndrome False True True +Orphanet:3315 OBSOLETE: Thiopurine S-methyltransferase deficiency False True True Orphanet:3323 Braddock-Carey syndrome False True True +Orphanet:33271 NON RARE IN EUROPE: Non-alcoholic fatty liver disease False True True Orphanet:3331 OBSOLETE: Bowed tibiae-radial anomalies-osteopenia-fractures syndrome False True True Orphanet:3332 Hypoplastic tibiae-postaxial polydactyly syndrome False True True Orphanet:3333 Connective tissue dysplasia, Spellacy type False True True Orphanet:3336 TomÚ-Brunet-Fardeau syndrome False True True Orphanet:3340 OBSOLETE: Torres-Aybar syndrome False True True +Orphanet:33409 NON RARE IN EUROPE: Lichen sclerosus False True True Orphanet:3349 Treft-Sanborn-Carey syndrome False True True Orphanet:3354 OBSOLETE: Tricho-oculo-dermo-vertebral syndrome False True True Orphanet:3357 OBSOLETE: Autosomal dominant trichoodontoonychodysplasia-syndactyly False True True +Orphanet:336 NON RARE IN EUROPE: Fibromuscular dysplasia of arteries False True True Orphanet:3360 OBSOLETE: Trichodermal syndrome-intellectual disability syndrome False True True Orphanet:3362 OBSOLETE: Trichomegaly-cataract-hereditary spherocytosis syndrome False True True +Orphanet:338 Familial multiple fibrofolliculoma False True True +Orphanet:3390 Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome False True True +Orphanet:3391 Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome False True True Orphanet:34 Pipecolic acidemia False True True +Orphanet:34145 NON RARE IN EUROPE: Berger disease False True True Orphanet:3419 OBSOLETE: Van Regemorter-Pierquin-Vamos syndrome False True True Orphanet:3421 Cerebroretinal vasculopathy False True True Orphanet:3423 Vasquez-Hurst-Sotos syndrome False True True Orphanet:3435 NON RARE IN EUROPE: Vitiligo False True True Orphanet:3438 Biliary tract malformation-renal failure syndrome False True True Orphanet:34412 NON RARE IN EUROPE: HAIR-AN syndrome False True True +Orphanet:3444 Watson syndrome False True True Orphanet:3446 Weaver-like syndrome False True True +Orphanet:3450 Weissenbacher-Zweymuller syndrome False True True Orphanet:34517 Autosomal dominant limb-girdle muscular dystrophy type 1E False True True +Orphanet:34521 Distal myopathy with early respiratory muscle involvement False True True Orphanet:34526 OBSOLETE: Genetic primary hypomagnesemia False True True Orphanet:34527 OBSOLETE: Familial primary hypomagnesemia with normocalciuria and normocalcemia False True True +Orphanet:35056 NON RARE IN EUROPE: Trimethylaminuria False True True +Orphanet:35061 OBSOLETE: Idiopathic recurrent and disabling cutaneous herpes False True True +Orphanet:35064 OBSOLETE: Lethal idiopathic viral infection False True True +Orphanet:35065 OBSOLETE: Idiopathic severe pneumococcemia False True True Orphanet:35066 NON RARE IN EUROPE: Idiopathic cutaneous and mucosal candidosis False True True Orphanet:35098 OBSOLETE: Isolated plagiocephaly False True True Orphanet:35123 OBSOLETE: Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency False True True Orphanet:352298 OBSOLETE: Genetic muscular channelopathy False True True Orphanet:352482 OBSOLETE: Autosomal recessive limb-girdle muscular dystrophy with cerebellar involvement False True True +Orphanet:352487 Digital anomalies-intellectual disability-short stature syndrome False True True Orphanet:352497 OBSOLETE: Juvenile parkinsonism with intellectual disability due to DNAJC6 deficiency False True True Orphanet:352504 OBSOLETE: Levodopa-unresponsive juvenile parkinsonism False True True Orphanet:352613 Male infertility due to NANOS1 mutation False True True @@ -673,28 +925,52 @@ Orphanet:352694 OBSOLETE: Cobblestone lissencephaly type A False True True Orphanet:352699 OBSOLETE: Cobblestone lissencephaly type C False True True Orphanet:352704 OBSOLETE: Cobblestone lissencephaly type B False True True Orphanet:353225 NON RARE IN EUROPE: Primary adult open-angle glaucoma False True True +Orphanet:35688 OBSOLETE: Madelung deformity False True True +Orphanet:357 NON RARE IN EUROPE: Gilbert syndrome False True True +Orphanet:362 NON RARE IN EUROPE: Glucose-6-phosphate-dehydrogenase deficiency False True True Orphanet:36205 OBSOLETE: Collagenous colitis False True True +Orphanet:36297 NON RARE IN EUROPE: Anorexia nervosa False True True Orphanet:363266 OBSOLETE: Rare hereditary iron overload disease False True True Orphanet:363543 Autosomal recessive limb-girdle muscular dystrophy type 2R False True True Orphanet:363629 OBSOLETE: GMPPB-related congenital muscular dystrophy False True True +Orphanet:36414 OBSOLETE: Brain stem tumor False True True +Orphanet:369894 OBSOLETE: Early infantile epileptic encephalopathy without suppression burst False True True Orphanet:369902 OBSOLETE: DDX59-related orofaciodigital syndrome False True True Orphanet:370006 Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome False True True +Orphanet:370114 Combined cervical dystonia False True True Orphanet:370938 Salt-and-pepper syndrome False True True Orphanet:371439 OBSOLETE: Genetic cerebrovascular dementia False True True Orphanet:374 Goldenhar syndrome False True True Orphanet:37629 Neonatal neutropenia False True True +Orphanet:378 NON RARE IN EUROPE: Sjögren syndrome False True True +Orphanet:383 X-linked mixed deafness with perilymphatic gusher False True True +Orphanet:387 NON RARE IN EUROPE: Hidradenitis suppurativa False True True Orphanet:391479 OBSOLETE: Syndromic frontonasal dysplasia False True True Orphanet:391658 OBSOLETE: Cowpox infection False True True +Orphanet:40050 NON RARE IN EUROPE: Psoriatic arthritis False True True +Orphanet:401825 Autosomal recessive spastic paraplegia type 68 False True True Orphanet:406 NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia False True True Orphanet:411 Hyperlipoproteinemia type 1 False True True +Orphanet:411533 NON RARE IN EUROPE: Melanoma False True True +Orphanet:411969 NON RARE IN EUROPE: Metabolic syndrome False True True Orphanet:412220 OBSOLETE: Ramsay Hunt syndrome type II False True True +Orphanet:413 NON RARE IN EUROPE: Hyperlipoproteinemia type 4 False True True Orphanet:413690 OBSOLETE: Methotrexate toxicity or dose selection False True True +Orphanet:415268 NON RARE IN EUROPE: Adenocarcinoma of the lung False True True +Orphanet:415300 NON RARE IN EUROPE: Non-arteritic anterior ischemic optic neuropathy False True True Orphanet:415675 OBSOLETE: Small pox False True True Orphanet:415687 NON RARE IN EUROPE: Sudden infant death syndrome False True True +Orphanet:41842 NON RARE IN EUROPE: Fibromyalgia False True True +Orphanet:422519 OBSOLETE: 3-Phosphoglycerate dehydrogenase deficiency False True True Orphanet:423668 NON RARE IN EUROPE: Cortisol-producing adrenal tumor False True True +Orphanet:423781 OBSOLETE: Carcinoma of stomach, salivary gland type False True True Orphanet:426 NON RARE IN EUROPE: Familial hypobetalipoproteinemia False True True +Orphanet:430 OBSOLETE: Hypodermyiasis False True True Orphanet:431 Ichthyosis-male hypogonadism syndrome False True True +Orphanet:435 OBSOLETE: Ito hypomelanosis False True True +Orphanet:435623 OBSOLETE: Adactyly of foot False True True Orphanet:435808 OBSOLETE: ACAN-related skeletal dysplasia False True True +Orphanet:440 OBSOLETE: Familial hypospadias False True True Orphanet:441344 OBSOLETE: Autosomal recessive optic atrophy, OPA9 type False True True Orphanet:443301 OBSOLETE: HIV-related lung cancer False True True Orphanet:443304 OBSOLETE: HIV-related oropharyngeal cancer False True True @@ -707,14 +983,27 @@ Orphanet:443322 OBSOLETE: HIV-related cervical cancer False True True Orphanet:443325 OBSOLETE: HIV-related Non-Hodgkin lymphoma False True True Orphanet:443328 OBSOLETE: HIV-related Kaposi sarcoma False True True Orphanet:447792 OBSOLETE: Hemochromatosis type 5 False True True +Orphanet:448348 OBSOLETE: X-linked acrogigantism due to a point mutation False True True Orphanet:448372 OBSOLETE: X-linked acrogigantism due to Xq26 microduplication False True True +Orphanet:449262 NON RARE IN EUROPE: Primary bile acid malabsorption False True True +Orphanet:453 IBIDS syndrome False True True +Orphanet:45360 NON RARE IN EUROPE: Menière disease False True True Orphanet:454872 OBSOLETE: Type 1 interferonopathy with immunodeficiency False True True +Orphanet:457252 Squamous cell carcinoma of the oral tongue False True True +Orphanet:458713 NON RARE IN EUROPE: Specific language impairment False True True Orphanet:459353 OBSOLETE: C1 inhibitor deficiency False True True Orphanet:459530 OBSOLETE: Genetic primary lymphedema False True True +Orphanet:459690 NON RARE IN EUROPE: Gender dysphoria False True True +Orphanet:459696 NON RARE IN EUROPE: Juvenile idiopathic scoliosis False True True +Orphanet:462 NON RARE IN EUROPE: Autosomal dominant ichthyosis vulgaris False True True Orphanet:463 NON RARE IN EUROPE: Adrenal incidentaloma False True True +Orphanet:464293 NON RARE IN EUROPE: Infantile capillary hemangioma False True True +Orphanet:464463 NON RARE IN EUROPE: Adenocarcinoma of stomach False True True Orphanet:464682 OBSOLETE: Disorder with acute infantile liver failure False True True Orphanet:46489 OBSOLETE: Bullous systemic lupus erythematosus False True True Orphanet:46658 Primordial short stature-microdontia-opalescent and rootless teeth syndrome False True True +Orphanet:466667 NON RARE IN EUROPE: Colorectal cancer False True True +Orphanet:466673 NON RARE IN EUROPE: Post-herpetic neuralgia False True True Orphanet:466732 OBSOLETE: Lethal brachymelia-polycystic kidney disease-congenital heart defect syndrome False True True Orphanet:477668 OBSOLETE: AymÚ-Gripp syndrome False True True Orphanet:477697 OBSOLETE: Hereditary thrombocytopenia-hematological cancer predisposition syndrome False True True @@ -724,48 +1013,84 @@ Orphanet:481475 OBSOLETE: Gastric neuroendocrine tumor type 2 False True True Orphanet:481478 OBSOLETE: Gastric neuroendocrine tumor type 3 False True True Orphanet:481481 OBSOLETE: Gastric neuroendocrine tumor type 4 False True True Orphanet:484 NON RARE IN EUROPE: Klinefelter syndrome False True True +Orphanet:488201 NON RARE IN EUROPE: Non-small cell lung cancer False True True +Orphanet:489 NON RARE IN EUROPE: Thyroglossal duct cyst False True True +Orphanet:494348 Early-onset familial noncirrhotic portal hypertension False True True +Orphanet:496 Thost-Unna palmoplantar keratoderma False True True Orphanet:506124 OBSOLETE: Neuroendocrine tumor of small intestine False True True +Orphanet:50816 Spondylometaphyseal dysplasia with combined immunodeficiency False True True +Orphanet:50838 NON RARE IN EUROPE: Carpal tunnel syndrome False True True +Orphanet:50920 OBSOLETE: Multiple fibroadenoma of the breast False True True Orphanet:51013 OBSOLETE: Melanoma-pancreatic cancer syndrome False True True Orphanet:519335 OBSOLETE: Inflammatory/autoimmune optic neuropathy False True True Orphanet:519357 OBSOLETE: Syndromic malformation of the optic disc False True True Orphanet:519394 OBSOLETE: Isolated microphakia False True True Orphanet:521268 OBSOLETE: SLC5A6-CDG False True True +Orphanet:521399 NON RARE IN EUROPE: Non rare obesity False True True +Orphanet:52183 Premature chromosome condensation with microcephaly and intellectual disability False True True Orphanet:522544 OBSOLETE: Rare genetic conjunctivitis False True True +Orphanet:52428 Congenital muscular dystrophy type 1C False True True +Orphanet:529819 NON RARE IN EUROPE: Exfoliation syndrome False True True Orphanet:537891 OBSOLETE: ANGPT1-related hereditary angioedema with normal C1Inh False True True Orphanet:54238 Myotonic dystrophy type 3 False True True +Orphanet:555 NON RARE IN EUROPE: Celiac disease False True True +Orphanet:56965 Progressive bulbar paralysis of childhood False True True Orphanet:57194 OBSOLETE: Aseptic osteitis False True True +Orphanet:58208 NON RARE IN EUROPE: Pericarditis False True True Orphanet:58220 OBSOLETE: Microscopic colitis False True True +Orphanet:619 NON RARE IN EUROPE: Primary ovarian failure False True True Orphanet:619360 NON RARE IN EUROPE: Isolated hereditary persistence of fetal hemoglobin False True True +Orphanet:620 NON RARE IN EUROPE: Common mesentery False True True +Orphanet:625 NON RARE IN EUROPE: Atypical mole False True True Orphanet:63261 HERNS syndrome False True True Orphanet:63440 OBSOLETE: Isolated oxycephaly False True True +Orphanet:64738 NON RARE IN EUROPE: Non rare thrombophilia False True True +Orphanet:64740 NON RARE IN EUROPE: Recurrent acute pancreatitis False True True +Orphanet:651 NON RARE IN EUROPE: Idiopathic infantile nystagmus False True True +Orphanet:65279 OBSOLETE: Lymphocytic colitis False True True Orphanet:665 Albright hereditary osteodystrophy False True True Orphanet:669 OBSOLETE: Otopalatodigital syndrome False True True +Orphanet:670 PIBIDS syndrome False True True +Orphanet:67037 OBSOLETE: Squamous cell carcinoma of head and neck False True True +Orphanet:680 Normokalemic periodic paralysis False True True Orphanet:68388 OBSOLETE: Neurofibromatosis False True True +Orphanet:69127 NON RARE IN EUROPE: Immunoglobulin A deficiency False True True Orphanet:70470 OBSOLETE: Hyperlipoproteinemia type 5 False True True +Orphanet:706 NON RARE IN EUROPE: Patent arterial duct False True True Orphanet:711 Glycogen storage disease due to phosphoglucomutase deficiency False True True +Orphanet:71269 OBSOLETE: Benign exophthalmos syndrome False True True Orphanet:71270 OBSOLETE: Auriculoocular anomalies-cleft lip syndrome False True True Orphanet:71291 Hereditary vascular retinopathy False True True Orphanet:71516 OBSOLETE: Mixed dystonia False True True Orphanet:719 OBSOLETE: Pili canulati False True True +Orphanet:73220 X-linked intellectual disability-hypotonic face syndrome False True True +Orphanet:73247 NON RARE IN EUROPE: Eosinophilic esophagitis False True True Orphanet:73274 OBSOLETE: Acquired hemophilia False True True Orphanet:736 Palmoplantar porokeratosis of Mantoux False True True Orphanet:751 NON RARE IN EUROPE: Pseudoarylsulfatase A deficiency False True True Orphanet:75501 OBSOLETE: Ehlers-Danlos syndrome, fibronectinemic type False True True Orphanet:75789 SIBIDS syndrome False True True Orphanet:75790 Pollitt syndrome False True True +Orphanet:77 OBSOLETE: Aniridia False True True +Orphanet:771 NON RARE IN EUROPE: Ulcerative colitis False True True Orphanet:77241 OBSOLETE: Lymphedema praecox False True True Orphanet:77242 OBSOLETE: Lymphedema tarda False True True +Orphanet:77243 NON RARE IN EUROPE: Lipedema False True True Orphanet:77302 Oculo-oto-facial dysplasia False True True Orphanet:77303 OBSOLETE: Common variable immunodeficiency due to an intrinsic B cell defect False True True Orphanet:77304 OBSOLETE: Not NOTCH3-related small vessel disease of the brain False True True Orphanet:775 OBSOLETE: X-linked intellectual disability, Martinez type False True True Orphanet:788 OBSOLETE: Hereditary resistance to anti-vitamin K False True True +Orphanet:79022 Simpson-Golabi-Behmel syndrome type 2 False True True +Orphanet:79132 OBSOLETE: Sparse hair-short stature-skin anomalies syndrome False True True +Orphanet:79142 NON RARE IN EUROPE: Familial Dupuytren contracture False True True Orphanet:79260 Glycogen storage disease type 1c False True True Orphanet:79261 Glycogen storage disease type 1d False True True Orphanet:79289 Niemann-Pick disease type D False True True Orphanet:79316 OBSOLETE: Phosphoenolpyruvate carboxykinase 1 deficiency False True True Orphanet:79317 OBSOLETE: Phosphoenolpyruvate carboxykinase 2 deficiency False True True Orphanet:79344 OBSOLETE: Chondrodysplasia punctata, Sheffield type False True True +Orphanet:79383 OBSOLETE: Lymphedema False True True Orphanet:79407 Autosomal dominant dystrophic epidermolysis bullosa, Cockayne-Touraine type False True True Orphanet:79428 OBSOLETE: Familial segmental neurofibromatosis False True True Orphanet:79429 OBSOLETE: Familial spinal neurofibromatosis False True True @@ -773,31 +1098,56 @@ Orphanet:79446 Multiple pterygium syndrome, Aslan type False True True Orphanet:79450 Non-hereditary congenital primary lymphedema False True True Orphanet:79458 Oley syndrome False True True Orphanet:79459 OBSOLETE: Follicular atrophoderma-basal cell carcinoma False True True +Orphanet:79482 Cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome False True True +Orphanet:79486 Cystic hygroma False True True +Orphanet:79504 Ichthyosis hystrix gravior False True True +Orphanet:802 NON RARE IN EUROPE: Multiple sclerosis False True True +Orphanet:807 Sebastian syndrome False True True +Orphanet:825 NON RARE IN EUROPE: Ankylosing spondylitis False True True Orphanet:830 NON RARE IN EUROPE: Stuccokeratosis False True True +Orphanet:83449 NON RARE IN EUROPE: Inappropriate antidiuretic hormone secretion syndrome False True True Orphanet:83618 Severe dilated cardiomyopathy due to lamin A/C mutation False True True +Orphanet:84096 OBSOLETE: Unknown leukodystrophy False True True +Orphanet:84271 Sporadic idiopathic steroid-resistant nephrotic syndrome False True True +Orphanet:850 May-Hegglin thrombocytopenia False True True Orphanet:85142 NON RARE IN EUROPE: Aldosterone-producing adenoma False True True Orphanet:85281 OBSOLETE: MECP2 duplication syndrome False True True Orphanet:85289 X-linked intellectual disability, Vitale type False True True Orphanet:85291 X-linked intellectual disability, Wittwer type False True True +Orphanet:85318 OBSOLETE: X-linked intellectual disability-precocious puberty-obesity syndrome False True True +Orphanet:85328 X-linked intellectual disability, Turner type False True True +Orphanet:85330 X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome False True True Orphanet:85331 OBSOLETE: X-linked intellectual disability-obesity-short stature syndrome False True True Orphanet:85333 X-linked intellectual disability-spastic paraplegia with iron deposits syndrome False True True Orphanet:85337 X-linked intellectual disability, Zorick type False True True +Orphanet:855 NON RARE IN EUROPE: Hashimoto thyroiditis False True True +Orphanet:856 NON RARE IN EUROPE: Tourette syndrome False True True +Orphanet:862 NON RARE IN EUROPE: Hereditary essential tremor False True True Orphanet:86917 OBSOLETE: Lymphedema-cleft palate syndrome False True True Orphanet:872 OBSOLETE: Disorder in the hormonal synthesis with or without goiter False True True Orphanet:88636 Aortic dilatation-joint hypermobility-arterial tortuosity syndrome False True True +Orphanet:89832 OBSOLETE: Syndromic lymphedema False True True Orphanet:89833 Palmoplantar keratoderma with tonotubular keratin False True True +Orphanet:89839 OBSOLETE: Epidermolysis bullosa simplex superficialis False True True +Orphanet:89840 OBSOLETE: Junctional epidermolysis bullosa, non-Herlitz type False True True Orphanet:89841 OBSOLETE: Centripetalis recessive dystrophic epidermolysis bullosa False True True Orphanet:89845 OBSOLETE: Idiopathic hydrops fetalis False True True +Orphanet:89939 NON RARE IN EUROPE: Hyperkalemic renal tubular acidosis False True True Orphanet:90022 OBSOLETE: Cardiomyopathy-renal anomalies syndrome False True True Orphanet:90055 OBSOLETE: Rejection after corneal transplantation False True True Orphanet:90070 OBSOLETE: Methotrexate poisoning False True True Orphanet:90079 OBSOLETE: Anthracycline extravasation False True True Orphanet:90185 Non-hereditary late-onset primary lymphedema False True True Orphanet:90287 OBSOLETE: Maculopapular lupus rash False True True +Orphanet:90290 CREST syndrome False True True Orphanet:90309 OBSOLETE: Ehlers-Danlos syndrome type 1 False True True Orphanet:90318 OBSOLETE: Ehlers-Danlos syndrome type 2 False True True Orphanet:90338 Margarita island ectodermal dysplasia False True True +Orphanet:90339 OBSOLETE: Rosselli-Gulienetti syndrome False True True +Orphanet:90341 Early-onset sarcoidosis False True True Orphanet:90345 OBSOLETE: Unclassified metaphyseal chondrodysplasia False True True +Orphanet:90649 Orofaciodigital syndrome type 7 False True True +Orphanet:907 NON RARE IN EUROPE: Wolff-Parkinson-White syndrome False True True Orphanet:91128 OBSOLETE: Graft rejection after lung transplantation False True True Orphanet:91129 Anophthalmia-heart and pulmonary anomalies-intellectual disability syndrome False True True Orphanet:91133 OBSOLETE: Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome False True True @@ -805,13 +1155,27 @@ Orphanet:91353 OBSOLETE: Choristoma False True True Orphanet:91365 OBSOLETE: Secondary ciliary dyskinesia False True True Orphanet:91415 OBSOLETE: Familial capillary hemangioma False True True Orphanet:918 ABCD syndrome False True True +Orphanet:924 NON RARE IN EUROPE: Acanthosis nigricans False True True Orphanet:93178 OBSOLETE: Partial prune belly syndrome False True True +Orphanet:93206 OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis False True True +Orphanet:93207 OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with minimal change False True True +Orphanet:93209 OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation False True True +Orphanet:93213 OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis False True True +Orphanet:93214 OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation False True True +Orphanet:93216 OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes False True True +Orphanet:93217 OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis False True True +Orphanet:93218 OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis False True True +Orphanet:93220 OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis False True True Orphanet:93275 Thanatophoric dysplasia, Glasgow variant False True True Orphanet:93280 Spondyloepiphyseal dysplasia, Omani type False True True +Orphanet:93301 Brachyolmia type 1, Hobaek type False True True +Orphanet:93303 Brachyolmia type 1, Toledo type False True True Orphanet:93313 OBSOLETE: Multiple epiphyseal dysplasia, unclassified type False True True Orphanet:93365 OBSOLETE: CINCA syndrome with NLRP3 mutations False True True Orphanet:93367 OBSOLETE: CINCA syndrome without NLRP3 mutations False True True +Orphanet:93385 NON RARE IN EUROPE: Brachydactyly type D False True True Orphanet:93389 Brachydactyly type A5 False True True +Orphanet:93393 NON RARE IN EUROPE: Brachydactyly type A3 False True True Orphanet:93395 Ballard syndrome False True True Orphanet:93427 OBSOLETE: Metatropic dysplasias False True True Orphanet:93435 OBSOLETE: Moderate spondylodysplastic dysplasia False True True @@ -823,24 +1187,41 @@ Orphanet:93469 OBSOLETE: Harmonic micromelia False True True Orphanet:93470 OBSOLETE: Dysharmonic micromelia False True True Orphanet:93471 OBSOLETE: Miscellaneous metabolic disease associated with bone anomaly False True True Orphanet:93472 OBSOLETE: Dysmorphic syndrome associated with bone anomaly False True True +Orphanet:93550 OBSOLETE: Basement membrane disease False True True +Orphanet:93551 OBSOLETE: Secondary glomerular disease False True True Orphanet:93559 C3 deposition glomerulonephritis without proliferation False True True Orphanet:93564 OBSOLETE: Pediatric polyarteritis nodosa False True True Orphanet:93566 OBSOLETE: Pediatric Sjögren syndrome False True True Orphanet:93567 OBSOLETE: Pediatric systemic sclerosis False True True +Orphanet:93575 OBSOLETE: Atypical hemolytic uremic syndrome with C3 anomaly False True True +Orphanet:93576 OBSOLETE: Atypical hemolytic uremic syndrome with MCP/CD46 anomaly False True True +Orphanet:93578 OBSOLETE: Atypical hemolytic uremic syndrome with B factor anomaly False True True +Orphanet:93579 OBSOLETE: Atypical hemolytic uremic syndrome with H factor anomaly False True True +Orphanet:93580 OBSOLETE: Atypical hemolytic uremic syndrome with I factor anomaly False True True Orphanet:93594 OBSOLETE: Alpha-1-antichymotrypsin deficiency False True True Orphanet:936 Succinic acidemia False True True Orphanet:93604 OBSOLETE: Antenatal Bartter syndrome False True True Orphanet:93609 Autosomal recessive distal renal tubular acidosis without deafness False True True Orphanet:93611 Autosomal recessive distal renal tubular acidosis with deafness False True True Orphanet:93668 OBSOLETE: Adult chronic recurrent multifocal osteomyelitis False True True +Orphanet:93682 OBSOLETE: Pediatric Castleman disease False True True Orphanet:93686 OBSOLETE: Multicentric Castleman disease False True True Orphanet:93688 OBSOLETE: Non-idiopathic juvenile arthritis False True True +Orphanet:93937 OBSOLETE: Terminal transverse defects of arm False True True +Orphanet:93942 OBSOLETE: Superior celosomia False True True Orphanet:93943 Corpus callosum dysgenesis-hypopituitarism syndrome False True True Orphanet:93944 X-linked intellectual disability, Fichera type False True True +Orphanet:93951 OBSOLETE: X-linked dominant intellectual disability-epilepsy syndrome False True True Orphanet:93955 OBSOLETE: Benign essential blepharospasm False True True Orphanet:93956 OBSOLETE: Truncal dystonia False True True Orphanet:93957 OBSOLETE: Limb dystonia False True True +Orphanet:93961 OBSOLETE: Laryngeal dyskinesia False True True +Orphanet:93962 OBSOLETE: Cervical dystonia False True True Orphanet:93963 OBSOLETE: Autosomal dominant focal dystonia, DYT7 type False True True +Orphanet:93968 Meningocele False True True +Orphanet:93971 Chudley-Lowry-Hoar syndrome False True True +Orphanet:93973 Carpenter-Waziri syndrome False True True +Orphanet:93974 Smith-Fineman-Myers syndrome False True True Orphanet:94061 OBSOLETE: Macrocephaly-immune deficiency-anemia syndrome False True True Orphanet:94062 NON RARE IN EUROPE: Coronary artery disease-hyperlipidemia-hypertension-diabetes-osteoporosis syndrome False True True Orphanet:94084 Cerebro-oculo-facial-lymphatic syndrome False True True @@ -848,8 +1229,11 @@ Orphanet:94095 OBSOLETE: Spondylocostal dysostosis-anal atresia-genitourinary ma Orphanet:946 OBSOLETE: Acrocephalosyndactyly False True True Orphanet:953 OBSOLETE: Acromesomelic dysplasia, Brahimi-Bacha type False True True Orphanet:95426 OBSOLETE: Chronic pain requiring intraspinal analgesia False True True +Orphanet:95449 OBSOLETE: Congenital aortic valve insufficiency False True True Orphanet:95458 OBSOLETE: Tricuspid valve prolapse False True True +Orphanet:95484 OBSOLETE: Aneurysm or dilatation of ascending aorta False True True Orphanet:95487 NON RARE IN EUROPE: Atypical arterial duct False True True +Orphanet:95493 OBSOLETE: Abnormal origin or aberrant course of coronary artery False True True Orphanet:95501 OBSOLETE: Congenital central diabetes insipidus False True True Orphanet:95504 OBSOLETE: Metastatic pituitary hormone deficiency False True True Orphanet:956 Acropectororenal dysplasia False True True @@ -863,13 +1247,21 @@ Orphanet:95698 NON RARE IN EUROPE: Non-classic congenital adrenal hyperplasia du Orphanet:95721 OBSOLETE: Thyroid pyramidal lobe False True True Orphanet:96164 OBSOLETE: Non-distal monosomy 20q False True True Orphanet:964 Acromegaly-cutis verticis gyrata-corneal leukoma syndrome False True True +Orphanet:965 Acromegaloid facial appearance syndrome False True True +Orphanet:966 Hypertrichosis-acromegaloid facial appearance syndrome False True True +Orphanet:97231 Ligneous conjunctivitis False True True +Orphanet:97295 Furlong syndrome False True True Orphanet:97342 OBSOLETE: Argyrophilic grain disease False True True +Orphanet:97354 NON RARE IN EUROPE: Wernicke encephalopathy False True True Orphanet:97365 NON RARE IN EUROPE: Solitary renal cyst False True True Orphanet:97552 Steroid-sensitive nephrotic syndrome without renal biopsy False True True +Orphanet:97555 OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy False True True Orphanet:97557 NON RARE IN EUROPE: Chronic proteinuria with focal and segmental hyalinosis False True True +Orphanet:97562 NON RARE IN EUROPE: Benign familial hematuria False True True Orphanet:97569 OBSOLETE: Unclassified glomerulonephritis False True True Orphanet:97599 OBSOLETE: Arterial hypertension due to renal artery stenosis secondary to vasculitis False True True Orphanet:97668 OBSOLETE: Neonatal membranous glomerulopathy with maternal NEP deficiency False True True +Orphanet:97927 OBSOLETE: Peripheral resistance to thyroid hormones False True True Orphanet:98064 OBSOLETE: Rare disease in physical medicine and rehabilitation False True True Orphanet:98068 OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a polyglutamine anomaly False True True Orphanet:98069 OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a channelopathy False True True @@ -943,23 +1335,49 @@ Orphanet:98341 OBSOLETE: Male infertility with normal virilization due to a syst Orphanet:98342 OBSOLETE: Male infertility with normal virilization due to testicular defect associated with spinal cord injury False True True Orphanet:98435 OBSOLETE: Protease inhibitor anomaly False True True Orphanet:98454 OBSOLETE: Platelet storage pool disease False True True +Orphanet:98464 OBSOLETE: X-linked syndromic intellectual disability False True True Orphanet:98468 OBSOLETE: Congenital muscular dystrophy due to extracellular matrix protein anomaly False True True Orphanet:98469 OBSOLETE: Congenital muscular dystrophy due to glycosyltransferase anomaly False True True Orphanet:98470 OBSOLETE: Congenital muscular dystrophy due to proteins of the endoplasmic reticulum anomaly False True True +Orphanet:98520 OBSOLETE: Cystic malformation of the posterior fossa False True True Orphanet:98527 OBSOLETE: Tauopathy False True True Orphanet:98528 OBSOLETE: Tauopathy with non-Alzheimer non-Pick frontal lobe degeneration False True True Orphanet:98529 OBSOLETE: Tauopathy with a major tau triplet at 60, 64 and 69 kDa False True True Orphanet:98530 OBSOLETE: Tauopathy with a major tau doublet at 64 and 69 kDa False True True Orphanet:98531 OBSOLETE: Tauopathy with a major tau doublet at 60 and 64 kDa False True True Orphanet:98532 OBSOLETE: Tauopathy with a major tau at 60 kDa False True True +Orphanet:98554 OBSOLETE: Major induction processes eye anomaly False True True Orphanet:98568 OBSOLETE: Congenital entropion False True True +Orphanet:98569 OBSOLETE: Secondary entropion False True True +Orphanet:98572 OBSOLETE: Canthal anomaly False True True +Orphanet:98573 OBSOLETE: Epicanthal fold False True True +Orphanet:98580 OBSOLETE: Palpebral tumor False True True +Orphanet:98581 OBSOLETE: Palpebral epidermal tumor False True True +Orphanet:98582 OBSOLETE: Benign tumor of palpebral epidermis False True True +Orphanet:98583 OBSOLETE: Precancerous lesion of palpebral epidermis False True True +Orphanet:98584 OBSOLETE: Malignant tumor of palpebral epidermis False True True +Orphanet:98585 OBSOLETE: Palpebral sebaceous gland tumor False True True +Orphanet:98586 OBSOLETE: Pigmented palpebral tumor False True True +Orphanet:98587 OBSOLETE: Palpebral lentiginosis False True True +Orphanet:98588 OBSOLETE: Palpebral nevus False True True Orphanet:98589 OBSOLETE: Palpebral malignant melanoma False True True +Orphanet:98590 OBSOLETE: Palpebral piliary tumor False True True +Orphanet:98591 OBSOLETE: Mesenchymatous palpebral tumor False True True +Orphanet:98593 OBSOLETE: Neurogenic palpebral tumor False True True +Orphanet:98603 OBSOLETE: Secretory apparatus of the lacrimal system anomaly False True True +Orphanet:98608 OBSOLETE: Anomaly of the secretory and excretory apparatus of the lacrimal system False True True +Orphanet:98615 OBSOLETE: Pigmented conjunctival lesion False True True +Orphanet:98616 OBSOLETE: Conjunctival tumor False True True +Orphanet:98617 OBSOLETE: Bulbar conjunctival dermoid or conjunctival dermolipoma False True True Orphanet:98629 OBSOLETE: Rare glaucoma False True True -Orphanet:98667 OBSOLETE: Disease predisposing to age-related macular degeneration False True True +Orphanet:98657 OBSOLETE: Genetic vitreous-retinal disease False True True +Orphanet:98664 OBSOLETE: Genetic macular dystrophy False True True +Orphanet:98669 OBSOLETE: Congenital vitreoretinal dysplasia False True True Orphanet:98670 OBSOLETE: Vitreoretinal degeneration False True True Orphanet:98675 OBSOLETE: Autosomal recessive optic atrophy False True True Orphanet:98677 OBSOLETE: Autosomal recessive syndromic optic atrophy False True True Orphanet:98678 OBSOLETE: X-linked recessive optic atrophy False True True +Orphanet:98682 NON RARE IN EUROPE: Essential strabismus False True True Orphanet:98702 OBSOLETE: Connective tissue disease with eye involvement False True True Orphanet:98709 OBSOLETE: Ectodermal malformation syndrome associated with ocular features False True True Orphanet:98726 OBSOLETE: Pulmonary artery/pulmonary branch anomaly False True True @@ -970,24 +1388,35 @@ Orphanet:98736 OBSOLETE: Genetic neurological channelopathy False True True Orphanet:98751 OBSOLETE: Autoimmune neurological channelopathy due to a p/q-type voltage gated calcium channel defect False True True Orphanet:98752 OBSOLETE: Autoimmune neurological channelopathy due to a potassium channel defect False True True Orphanet:98753 OBSOLETE: Autoimmune neurological channelopathy due to an acetylcholine receptor subunits defect False True True +Orphanet:98770 Spinocerebellar ataxia type 16 False True True Orphanet:98788 Pitt-Rogers-Danks syndrome False True True Orphanet:98812 Paroxysmal hypnogenic dyskinesia False True True Orphanet:98836 Bilineal acute leukemia False True True +Orphanet:98837 Acute biphenotypic leukemia False True True +Orphanet:98861 Primary ciliary dyskinesia, Kartagener type False True True Orphanet:98864 Common hereditary elliptocytosis False True True Orphanet:98865 Homozygous hereditary elliptocytosis False True True Orphanet:98866 OBSOLETE: Spherocytic elliptocytosis False True True Orphanet:98867 Hereditary pyropoikilocytosis False True True +Orphanet:98894 Congenital muscular dystrophy type 1D False True True Orphanet:98932 OBSOLETE: Shy-Drager syndrome False True True +Orphanet:98941 OBSOLETE: Von Hippel anomaly False True True Orphanet:98968 Central discoid corneal dystrophy False True True Orphanet:98983 OBSOLETE: Congenital cataract, Volkmann type False True True Orphanet:98986 OBSOLETE: Coppock-like cataract False True True Orphanet:98987 OBSOLETE: Cataract, Hutterite type False True True Orphanet:99012 OBSOLETE: Autosomal recessive optic atrophy, OPA6 type False True True +Orphanet:99022 OBSOLETE: Niemann-Pick disease type E False True True Orphanet:99044 Double outlet right ventricle with subaortic ventricular septal defect False True True Orphanet:99047 Double outlet right ventricle with doubly committed ventricular septal defect False True True +Orphanet:99066 OBSOLETE: Complete atrioventricular canal-left heart obstruction syndrome False True True Orphanet:99069 OBSOLETE: Univentricular heart with single atrio-ventricular valve False True True +Orphanet:99085 OBSOLETE: Coronary artery intramyocardial course False True True +Orphanet:99086 OBSOLETE: Aortopulmonary coronary arterial course False True True +Orphanet:99088 OBSOLETE: Intramural coronary arterial course False True True Orphanet:99096 OBSOLETE: Multiple ventricular septal defects False True True Orphanet:99097 OBSOLETE: Single ventricular septal defect False True True +Orphanet:99108 NON RARE IN EUROPE: Patent foramen ovale False True True Orphanet:99126 OBSOLETE: Pulmonary vein atresia False True True Orphanet:99134 OBSOLETE: Intermediate stomatocytosis syndrome False True True Orphanet:99142 Microcephaly-cutis verticis gyrata-lymphedema syndrome False True True @@ -996,6 +1425,7 @@ Orphanet:99146 OBSOLETE: Platelet function disease associated with renal insuffi Orphanet:99151 NON RARE IN EUROPE: Hippocampal tauopathy in cerebral aging False True True Orphanet:99166 NON RARE IN EUROPE: Familial combined hyperlipoproteinemia False True True Orphanet:995 X-linked fetal akinesia syndrome False True True +Orphanet:99645 Dappled diaphyseal dysplasia False True True Orphanet:99648 OBSOLETE: Non-progressive congenital heart block False True True Orphanet:99649 OBSOLETE: Generalized epilepsy and praxis-induced seizures False True True Orphanet:99650 OBSOLETE: Non-pore-loop channelopathy involved in several types of epilepsy False True True @@ -1007,8 +1437,11 @@ Orphanet:99664 OBSOLETE: Trochlear nerve palsy False True True Orphanet:99665 NON RARE IN EUROPE: Ventral hernia False True True Orphanet:99666 OBSOLETE: Atlantoaxial subluxation False True True Orphanet:99694 Alveolar synechia-ankyloblepharon-ectodermal dysplasia syndrome False True True +Orphanet:99706 OBSOLETE: Progeria-associated arthropathy False True True +Orphanet:99715 MASS syndrome False True True Orphanet:99722 OBSOLETE: Sporadic achalasia False True True Orphanet:99723 OBSOLETE: Familial esophageal achalasia False True True +Orphanet:99763 OBSOLETE: Familial hyperreninemic hypoaldosteronism type 1 False True True Orphanet:99764 OBSOLETE: Familial hyperreninemic hypoaldosteronism type 2 False True True Orphanet:99777 Achalasia-alacrimia syndrome False True True Orphanet:99781 OBSOLETE: Familial articular chondrocalcinosis type 1 False True True @@ -1018,6 +1451,17 @@ Orphanet:99831 OBSOLETE: Common variable immunodeficiency due to an intrinsic T Orphanet:99859 OBSOLETE: Posttraumatic syringomyelia False True True Orphanet:99864 OBSOLETE: Classic seminoma False True True Orphanet:99866 OBSOLETE: Metastatic spermatocytic seminoma False True True +Orphanet:99870 OBSOLETE: Letterer-Siwe disease False True True +Orphanet:99871 OBSOLETE: Eosinophilic granuloma False True True +Orphanet:99872 OBSOLETE: Hashimoto-Pritzker syndrome False True True +Orphanet:99873 OBSOLETE: Hand-Sch³ller-Christian disease False True True +Orphanet:99874 OBSOLETE: Adult pulmonary Langerhans cell histiocytosis False True True +Orphanet:99875 OBSOLETE: Ehlers-Danlos syndrome type 7A False True True +Orphanet:99876 OBSOLETE: Ehlers-Danlos syndrome type 7B False True True +Orphanet:99877 OBSOLETE: Familial parathyroid adenoma False True True +Orphanet:99878 OBSOLETE: Primary parathyroid hyperplasia False True True +Orphanet:99888 NON RARE IN EUROPE: Adrenocortical adenoma False True True +Orphanet:99900 Long chain acyl-CoA dehydrogenase deficiency False True True Orphanet:99972 OBSOLETE: Immunoglobulin A1 deficiency False True True Orphanet:99973 OBSOLETE: Immunoglobulin A2 deficiency False True True Orphanet:99974 OBSOLETE: TACI-related selective deficiency of IgA False True True @@ -2462,6 +2906,7 @@ Orphanet:183460 Genetic sebaceous gland anomaly True False False Orphanet:183463 Genetic pigmentation anomaly of the skin True False False Orphanet:183472 Genetic dermis disorder True False False Orphanet:183478 Genetic skin vascular disorder True False False +Orphanet:183481 Genetic mixed dermis disorder True False False Orphanet:183484 Genetic subcutaneous tissue disorder True False False Orphanet:183487 Genetic skin tumor or hamartoma True False False Orphanet:183490 Genetic photodermatosis True False False @@ -2496,6 +2941,7 @@ Orphanet:183589 Genetic thrombotic microangiopathy True False False Orphanet:183592 Genetic renal tubular disease True False False Orphanet:183595 Genetic renal tumor True False False Orphanet:1836 Mesomelic dysplasia, Kantaputra type True False False +Orphanet:183616 Genetic neuro-ophthalmological disease True False False Orphanet:183619 Genetic eye tumor True False False Orphanet:183622 Genetic respiratory malformation True False False Orphanet:183625 Rare genetic diabetes mellitus True False False @@ -3793,6 +4239,7 @@ Orphanet:254525 Temple syndrome due to paternal 14q32.2 microdeletion True False Orphanet:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion True False False Orphanet:254531 Temple syndrome due to paternal 14q32.2 hypomethylation True False False Orphanet:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation True False False +Orphanet:254685 Gestational trophoblastic disease True False False Orphanet:254688 Complete hydatidiform mole True False False Orphanet:254693 Partial hydatidiform mole True False False Orphanet:254698 Epithelioid trophoblastic tumor True False False @@ -4216,6 +4663,8 @@ Orphanet:269523 Syndrome with a cerebellar malformation as a major feature True Orphanet:269528 Syndrome with microcephaly as a major feature True False False Orphanet:269531 Other syndrome with a central nervous system malformation as a major feature True False False Orphanet:269546 Syndrome with a Dandy-Walker malformation as a major feature True False False +Orphanet:269553 Genetic cerebral malformation True False False +Orphanet:269557 Genetic posterior fossa malformation True False False Orphanet:269573 Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature True False False Orphanet:2697 Arthrogryposis-renal dysfunction-cholestasis syndrome True False False Orphanet:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome True False False @@ -4932,6 +5381,7 @@ Orphanet:306558 Primary microcephaly-epilepsy-permanent neonatal diabetes syndro Orphanet:306577 Sodium channelopathy-related small fiber neuropathy True False False Orphanet:306617 X-linked complicated spastic paraplegia type 1 True False False Orphanet:306640 Rare intoxication due to medical products True False False +Orphanet:306644 Complication after organ transplantation True False False Orphanet:306648 Non-infectious anterior uveitis True False False Orphanet:306658 Familial normophosphatemic tumoral calcinosis True False False Orphanet:306661 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome True False False @@ -5341,6 +5791,7 @@ Orphanet:319671 Alazami syndrome True False False Orphanet:319675 Microcephalic primordial dwarfism, Dauber type True False False Orphanet:319678 Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome True False False Orphanet:3197 Hereditary hyperekplexia True False False +Orphanet:319719 Autoinflammatory syndrome of childhood True False False Orphanet:3198 Stiff person spectrum disorder True False False Orphanet:3199 Stimmler syndrome True False False Orphanet:32 Glutathione synthetase deficiency True False False @@ -5470,6 +5921,8 @@ Orphanet:325632 46,XY disorder of sex development of gynecological interest True Orphanet:325638 Syndrome with disorder of sex development of gynecological interest True False False Orphanet:325665 Genetic disorder of sex development of gynecological interest True False False Orphanet:325690 Genetic disorder of sex development True False False +Orphanet:325697 Genetic 46,XX disorder of sex development True False False +Orphanet:325706 Genetic 46,XY disorder of sex development True False False Orphanet:3258 Cenani-Lenz syndrome True False False Orphanet:3259 Syndactyly-polydactyly-ear lobe syndrome True False False Orphanet:326 Congenital factor V deficiency True False False @@ -6623,6 +7076,7 @@ Orphanet:448251 Progressive autosomal recessive ataxia-deafness syndrome True Fa Orphanet:448264 Isolated focal non-epidermolytic palmoplantar keratoderma True False False Orphanet:448267 Regressive spondylometaphyseal dysplasia True False False Orphanet:448270 Ectopia cordis True False False +Orphanet:448426 Genetic primary orthostatic hypotension True False False Orphanet:44890 Gastrointestinal stromal tumor True False False Orphanet:449 Hepatoblastoma True False False Orphanet:449266 Pleural empyema True False False @@ -7156,6 +7610,7 @@ Orphanet:519278 Infective keratitis True False False Orphanet:519280 Rare conjunctivitis True False False Orphanet:519292 Syndromic ectopia lentis True False False Orphanet:519294 Syndromic microspherophakia True False False +Orphanet:519302 Isolated macular dystrophy True False False Orphanet:519304 Isolated vitreoretinopathy True False False Orphanet:519325 Syndromic inherited retinal disorder True False False Orphanet:519327 Syndromic vitreoretinopathy True False False @@ -7517,6 +7972,7 @@ Orphanet:576356 Sporadic human prion disease True False False Orphanet:576360 Acquired human prion disease True False False Orphanet:576370 Variant Creutzfeldt-Jakob disease True False False Orphanet:576379 Iatrogenic Creutzfeldt-Jakob disease True False False +Orphanet:576742 Genetic hemolytic uremic syndrome True False False Orphanet:577 Mucolipidosis type III True False False Orphanet:57777 Cirrhotic cardiomyopathy True False False Orphanet:57782 Mazabraud syndrome True False False @@ -9663,6 +10119,11 @@ Orphanet:98727 Rare atrial defect and interatrial communication True False False Orphanet:98729 Congenital pulmonary veins anomaly True False False Orphanet:98731 Congenital arteriovenous fistula True False False Orphanet:98733 Noonan syndrome and Noonan-related syndrome True False False +Orphanet:98738 Neurological muscular channelopathy due to a genetic sodium channel defect True False False +Orphanet:98739 Neurological muscular channelopathy due to a genetic chloride channel defect True False False +Orphanet:98740 Neurological muscular channelopathy due to a genetic calcium channel defect True False False +Orphanet:98741 Neurological muscular channelopathy due to a genetic potassium channel defect True False False +Orphanet:98742 Neurological muscular channelopathy due to a genetic ryanodine receptor defect True False False Orphanet:98743 Genetic neurological channelopathy of the central nervous system True False False Orphanet:98750 Autoimmune neurological channelopathy True False False Orphanet:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 True False False @@ -10291,502 +10752,75 @@ Orphanet:98555 Microphthalmia-anophthalmia-coloboma True True False Orphanet:99739 Rare familial disorder with hypertrophic cardiomyopathy True True False Orphanet:99909 Occupational allergic alveolitis True True False Orphanet:99913 Extragonadal non-dysgerminomatous germ cell tumor True True False -Orphanet:1002 NON RARE IN EUROPE: Cluster headache True True True -Orphanet:100642 NON RARE IN EUROPE: Gonorrhea True True True -Orphanet:100932 OBSOLETE: Nuclear oculomotor paralysis True True True -Orphanet:100990 OBSOLETE: Autosomal dominant spastic paraplegia type 9 True True True -Orphanet:101033 OBSOLETE: Peters anomaly-cataract syndrome True True True -Orphanet:101106 OBSOLETE: Non-secreting chemodectoma True True True -Orphanet:101335 OBSOLETE: Indian tick typhus True True True -Orphanet:1019 Epstein syndrome True True True Orphanet:101949 OBSOLETE: Rare acquired eye disease True True True Orphanet:102373 OBSOLETE: Primary glomerular disease True True True Orphanet:103912 OBSOLETE: Epithelio-exfoliative colitis-deafness syndrome True True True Orphanet:103916 OBSOLETE: Autoimmune enteropathy type 2 True True True -Orphanet:103917 OBSOLETE: Autoimmune enteropathy type 3 True True True -Orphanet:106 NON RARE IN EUROPE: Autism True True True -Orphanet:108985 OBSOLETE: Non-syndromic developmental defect of the eye True True True Orphanet:108987 OBSOLETE: Syndromic developmental defect of the eye True True True -Orphanet:1092 Renal-genital-middle ear anomalies True True True -Orphanet:1137 OBSOLETE: Pulmonary aortic stenosis obstructive uropathy True True True -Orphanet:1162 NON RARE IN EUROPE: Asperger syndrome True True True -Orphanet:120 NON RARE IN EUROPE: Pernicious anemia True True True -Orphanet:1219 Aurocephalosyndactyly True True True -Orphanet:1232 NON RARE IN EUROPE: Barrett esophagus True True True Orphanet:1245 BIDS syndrome True True True -Orphanet:1256 OBSOLETE: Blepharophimosis-radioulnar synostosis syndrome True True True -Orphanet:1258 OBSOLETE: Blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome True True True -Orphanet:1260 OBSOLETE: Sino-auricular heart block True True True Orphanet:1317 CAMFAK syndrome True True True -Orphanet:1339 OBSOLETE: Cranioacrofacial syndrome True True True -Orphanet:137586 OBSOLETE: Herpes simplex virus keratitis True True True Orphanet:137653 Microcephaly-digital anomalies-intellectual disability syndrome True True True -Orphanet:137871 OBSOLETE: Laminopathy type Decaudain-Vigouroux True True True -Orphanet:139498 NON RARE IN EUROPE: Hemochromatosis type 1 True True True -Orphanet:140450 OBSOLETE: Hereditary motor and sensory neuropathy True True True -Orphanet:1408 Hair defect-photosensitivity-intellectual disability syndrome True True True -Orphanet:1409 Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome True True True -Orphanet:141136 Otomandibular syndrome True True True -Orphanet:1420 OBSOLETE: Lethal chondrodysplasia, Moerman type True True True -Orphanet:1421 OBSOLETE: Lethal chondrodysplasia, Seller type True True True -Orphanet:1434 OBSOLETE: Choroideremia-hypopituitarism syndrome True True True -Orphanet:1480 NON RARE IN EUROPE: Ventricular septal defect True True True -Orphanet:1526 OBSOLETE: Craniosynostosis-synostoses-hypertensive nephropathy syndrome True True True -Orphanet:1530 OBSOLETE: Craniosynostosis-cataract syndrome True True True -Orphanet:1535 Craniosynostosis-dysmorphism-brachydactyly syndrome True True True -Orphanet:1549 NON RARE IN EUROPE: Cryptosporidiosis True True True -Orphanet:155 NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy True True True -Orphanet:1557 Cutis verticis gyrata-intellectual disability syndrome True True True -Orphanet:156156 Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy True True True -Orphanet:1575 OBSOLETE: Infantile striatothalamic degeneration True True True -Orphanet:157788 Hypospadias-hypertelorism-coloboma and deafness syndrome True True True -Orphanet:157855 HARP syndrome True True True -Orphanet:157980 NON RARE IN EUROPE: Bladder cancer True True True Orphanet:158665 OBSOLETE: Basal epidermolysis bullosa simplex True True True -Orphanet:158793 OBSOLETE: Lymphoadenopathic mastocytosis with eosinophilia True True True Orphanet:158796 OBSOLETE: Classic mast cell leukemia True True True -Orphanet:162521 OBSOLETE: Congenital nasal pyriform aperture stenosis with holoprosencephaly True True True -Orphanet:163895 OBSOLETE: Paraneoplastic limbic encephalitis True True True -Orphanet:163914 OBSOLETE: Limbic encephalitis with nCMAgs antibodies True True True Orphanet:163918 OBSOLETE: Non-paraneoplastic limbic encephalitis True True True Orphanet:163988 OBSOLETE: Developmental delay-deafness syndrome, Hildebrand type True True True -Orphanet:164 NON RARE IN EUROPE: Cerebral cavernous malformations True True True -Orphanet:1648 NON RARE IN EUROPE: Dementia with Lewy body True True True -Orphanet:166068 Pontocerebellar hypoplasia type 5 True True True -Orphanet:1683 Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome True True True -Orphanet:168609 Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure True True True -Orphanet:171208 OBSOLETE: Intermediate isolated anorectal malformation True True True -Orphanet:171676 NON RARE IN EUROPE: Periventricular leukomalacia True True True -Orphanet:171836 Amelogenesis imperfecta-gingival hyperplasia syndrome True True True -Orphanet:171860 OBSOLETE:Intellectual disability-cataracts-kyphosis syndrome True True True -Orphanet:180118 NON RARE IN EUROPE: Cordiform uterus True True True -Orphanet:180284 NON RARE IN EUROPE: Benign ductal tumor of breast True True True -Orphanet:1804 Dyssegmental dysplasia-glaucoma syndrome True True True -Orphanet:181425 OBSOLETE: Rare major hypertriglyceridemia True True True -Orphanet:1819 OBSOLETE: Epimetaphyseal skeletal dysplasia True True True Orphanet:182073 OBSOLETE: Syndromic neurometabolic disease with non-X-linked intellectual disability True True True Orphanet:182076 OBSOLETE: Syndromic neurometabolic disease with X-linked intellectual disability True True True Orphanet:182214 OBSOLETE: Rare inflammatory eye disease True True True -Orphanet:1831 De Hauwere syndrome True True True Orphanet:183598 OBSOLETE: Rare genetic palpebral, lacrimal system and conjunctival disease True True True Orphanet:183601 OBSOLETE: Rare genetic refraction anomaly True True True -Orphanet:1838 Metaphyseal dysplasia without hypotrichosis True True True -Orphanet:1844 OBSOLETE: Bone dysplasia, Azouz type True True True -Orphanet:1849 OBSOLETE: Infundibulopelvic stenosis-multicystic kidney syndrome True True True -Orphanet:1877 Muscular dystrophy-white matter spongiosis syndrome True True True -Orphanet:1888 Ectrodactyly-ectodermal dysplasia without clefting syndrome True True True -Orphanet:1889 Ectrodactyly-cleft palate syndrome True True True Orphanet:1939 OBSOLETE: Envenomization by Bothrops lanceolatus True True True -Orphanet:1940 Shoulder and thorax deformity-congenital heart disease syndrome True True True -Orphanet:1956 OBSOLETE: Erythromelalgia True True True -Orphanet:1983 NON RARE IN EUROPE: Chronic fatigue syndrome True True True -Orphanet:1984 Fechtner syndrome True True True -Orphanet:2033 OBSOLETE: Multifocal muscular fibrosis-obstructed vessels syndrome True True True Orphanet:2042 OBSOLETE: Tracheo-esophageal fistula-hypospadias syndrome True True True -Orphanet:2051 Fraser-like syndrome True True True -Orphanet:206 NON RARE IN EUROPE: Crohn disease True True True -Orphanet:2060 Fukuda-Miyanomae-Nakata syndrome True True True Orphanet:206659 OBSOLETE: Non-dystrophic myopathy with collagen 6 anomaly True True True Orphanet:206985 OBSOLETE: Drug and/or toxic myopathy True True True -Orphanet:2081 Cerebral gigantism-jaw cysts syndrome True True True -Orphanet:210566 Myoclonic dystonia 15 True True True -Orphanet:2113 Congenital hypothalamic hamartoma syndrome True True True -Orphanet:213741 OBSOLETE: Adenoid cystic carcinoma of the corpus uteri True True True -Orphanet:2156 OBSOLETE: Hirsutism-skeletal dysplasia-intellectual disability syndrome True True True -Orphanet:2161 OBSOLETE: Holoacardius amorphus True True True -Orphanet:216445 Prelingual non-syndromic genetic deafness True True True -Orphanet:216452 Postlingual non-syndromic genetic deafness True True True -Orphanet:2168 Homocarnosinosis True True True -Orphanet:217023 OBSOLETE: Atypical hemolytic uremic syndrome with thrombomodulin anomaly True True True -Orphanet:2190 OBSOLETE: Congenital hydronephrosis True True True -Orphanet:221106 OBSOLETE: Isolated facial myokymia True True True -Orphanet:221150 OBSOLETE: Pitt-Hopkins-like syndrome True True True -Orphanet:2227 NON RARE IN EUROPE: Hypodontia True True True -Orphanet:2267 OBSOLETE: Ichthyosis-cheek-eyebrow syndrome True True True -Orphanet:227786 OBSOLETE: Familial flecked retinopathy True True True -Orphanet:228315 OBSOLETE: Idiopathic hypersomnia with long sleep time True True True -Orphanet:228318 OBSOLETE: Idiopathic hypersomnia without long sleep time True True True -Orphanet:228429 Generalized congenital lipodystrophy with myopathy True True True -Orphanet:230845 Vascular-like classical Ehlers-Danlos syndrome True True True -Orphanet:231537 Hermansky-Pudlak syndrome type 8 True True True -Orphanet:2335 NON RARE IN EUROPE: Isolated keratoconus True True True -Orphanet:2355 Kumar-Levick syndrome True True True -Orphanet:238616 NON RARE IN EUROPE: Alzheimer disease True True True -Orphanet:238766 Ptosis-syndactyly-learning difficulties syndrome True True True -Orphanet:2431 Central bilateral macrogyria True True True -Orphanet:243377 NON RARE IN EUROPE: Diabetes mellitus type 1 True True True -Orphanet:243761 NON RARE IN EUROPE: Essential hypertension True True True -Orphanet:2453 Malpuech syndrome True True True -Orphanet:2454 OBSOLETE: Familial intestinal malrotation-facial anomalies syndrome True True True -Orphanet:247839 OBSOLETE: Oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies True True True -Orphanet:247854 OBSOLETE: Rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies True True True Orphanet:248305 OBSOLETE: Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency True True True -Orphanet:2506 Michels syndrome True True True -Orphanet:251633 OBSOLETE: Low-grade ependymoma True True True Orphanet:254793 OBSOLETE: Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA True True True -Orphanet:2601 OBSOLETE: Myopathy-growth delay-intellectual disability-hypospadias syndrome True True True -Orphanet:2615 Nakajo-Nishimura syndrome True True True -Orphanet:261559 OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome True True True -Orphanet:261572 OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome True True True -Orphanet:261579 OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to copy number variations True True True -Orphanet:263355 OBSOLETE: ATR-X-related syndrome True True True -Orphanet:263417 Bartter syndrome with hypocalcemia True True True Orphanet:263676 OBSOLETE: Hereditary epidermolysis bullosa associated with ocular features True True True -Orphanet:264 Autosomal dominant limb-girdle muscular dystrophy type 1B True True True Orphanet:2641 OBSOLETE: Micromelic dwarfism, Fryns type True True True -Orphanet:264724 OBSOLETE: Langerhans cell histiocytosis specific to childhood True True True -Orphanet:264750 OBSOLETE: Langerhans cell histiocytosis specific to adulthood True True True -Orphanet:264955 OBSOLETE: Langerhans cell histiocytosis in childhood and adulthood True True True Orphanet:265 Autosomal dominant limb-girdle muscular dystrophy type 1C True True True -Orphanet:2650 OBSOLETE: Dwarfism-intellectual disability-eye abnormality syndrome True True True -Orphanet:2676 Neuroectodermal-endocrine syndrome True True True -Orphanet:2677 OBSOLETE: Neuroepithelioma True True True -Orphanet:26823 NON RARE IN EUROPE: Pigment-dispersion syndrome True True True -Orphanet:269200 OBSOLETE: Retrocerebellar cyst True True True -Orphanet:2716 OBSOLETE: Oculo-skeletal-renal syndrome True True True -Orphanet:2739 Onycho-tricho-dysplasia-neutropenia syndrome True True True -Orphanet:275534 OBSOLETE: Myostatin-related muscle hypertrophy True True True -Orphanet:276271 NON RARE IN EUROPE: Familial dysalbuminemic hyperthyroxinemia True True True -Orphanet:276624 OBSOLETE: Sporadic pheochromocytoma True True True -Orphanet:276627 OBSOLETE: Sporadic secreting paraganglioma True True True -Orphanet:279 NON RARE IN EUROPE: Age-related macular degeneration True True True -Orphanet:2794 NON RARE IN EUROPE: Familial otosclerosis True True True -Orphanet:280110 NON RARE IN EUROPE: Paget disease of bone True True True -Orphanet:280569 OBSOLETE: Rapidly progressive glomerulonephritis True True True -Orphanet:280663 Hermansky-Pudlak syndrome type 9 True True True -Orphanet:2810 NON RARE IN EUROPE: Idiopathic facial palsy True True True Orphanet:2823 OBSOLETE: Paraplegia-brachydactyly-cone-shaped epiphysis syndrome True True True -Orphanet:284130 NON RARE IN EUROPE: Rheumatoid arthritis True True True -Orphanet:284408 OBSOLETE: Glycerol kinase deficiency, infantile form True True True Orphanet:2861 OBSOLETE: Short stature-microcephaly-heart defect syndrome True True True -Orphanet:2870 NON RARE IN EUROPE: Peyronie syndrome True True True -Orphanet:289527 OBSOLETE: Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency True True True Orphanet:2925 OBSOLETE: Polymicrogyria-turricephaly-hypogenitalism syndrome True True True -Orphanet:293848 Frontotemporal dementia, right temporal atrophy variant True True True -Orphanet:294049 Reunion Island Larsen-like syndrome True True True -Orphanet:294929 OBSOLETE: Terminal limb defects True True True -Orphanet:294931 OBSOLETE: Adactyly of hand True True True -Orphanet:294935 OBSOLETE: Split hand or/and split foot malformation True True True -Orphanet:294937 OBSOLETE: Brachydactyly True True True -Orphanet:294939 OBSOLETE: Preaxial polydactyly of fingers True True True -Orphanet:294942 OBSOLETE: Postaxial polydactyly of fingers True True True -Orphanet:294990 OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb True True True -Orphanet:294992 OBSOLETE: Split hand True True True -Orphanet:294994 OBSOLETE: Split foot True True True -Orphanet:294996 OBSOLETE: Brachydactyly of fingers True True True -Orphanet:294998 OBSOLETE: Brachydactyly of toes True True True -Orphanet:295006 OBSOLETE: Preaxial polydactyly of toes True True True Orphanet:295008 OBSOLETE: Postaxial polydactyly of toes True True True Orphanet:295010 OBSOLETE: Central polydactyly of toes True True True -Orphanet:295038 OBSOLETE: Patella aplasia/hypoplasia, unilateral True True True -Orphanet:295041 OBSOLETE: Patella aplasia/hypoplasia, bilateral True True True -Orphanet:295053 OBSOLETE: Amelia of upper limb, unilateral True True True -Orphanet:295055 OBSOLETE: Amelia of upper limb, bilateral True True True -Orphanet:295057 OBSOLETE: Amelia of lower limb, unilateral True True True -Orphanet:295059 OBSOLETE: Amelia of lower limb, bilateral True True True -Orphanet:295061 OBSOLETE: Humeral agenesis/hypoplasia, unilateral True True True -Orphanet:295063 OBSOLETE: Humeral agenesis/hypoplasia, bilateral True True True -Orphanet:295065 OBSOLETE: Femoral agenesis/hypoplasia, unilateral True True True -Orphanet:295067 OBSOLETE: Femoral agenesis/hypoplasia, bilateral True True True -Orphanet:295069 OBSOLETE: Radial hemimelia, unilateral True True True -Orphanet:295071 OBSOLETE: Radial hemimelia, bilateral True True True -Orphanet:295073 OBSOLETE: Ulnar hemimelia, bilateral True True True -Orphanet:295075 OBSOLETE: Ulnar hemimelia, unilateral True True True -Orphanet:295077 OBSOLETE: Tibial hemimelia, unilateral True True True -Orphanet:295079 OBSOLETE: Tibial hemimelia, bilateral True True True -Orphanet:295081 OBSOLETE: Fibular hemimelia, unilateral True True True -Orphanet:295083 OBSOLETE: Fibular hemimelia, bilateral True True True Orphanet:295085 OBSOLETE: Congenital absence of upper arm and forearm with hand present, unilateral True True True Orphanet:295087 OBSOLETE: Congenital absence of upper arm and forearm with hand present, bilateral True True True -Orphanet:295089 OBSOLETE: Congenital absence of thigh and lower leg with foot present, unilateral True True True -Orphanet:295091 OBSOLETE: Congenital absence of thigh and lower leg with foot present, bilateral True True True -Orphanet:295093 OBSOLETE: Congenital absence of both forearm and hand, unilateral True True True -Orphanet:295095 OBSOLETE: Congenital absence of both forearm and hand, bilateral True True True -Orphanet:295097 OBSOLETE: Congenital absence of both lower leg and foot, unilateral True True True -Orphanet:295099 OBSOLETE: Congenital absence of both lower leg and foot, bilateral True True True -Orphanet:295101 OBSOLETE: Acheiria, unilateral True True True -Orphanet:295103 OBSOLETE: Acheiria, bilateral True True True -Orphanet:295105 OBSOLETE: Apodia, unilateral True True True -Orphanet:295107 OBSOLETE: Apodia, bilateral True True True -Orphanet:295110 OBSOLETE: Congenital absence/hypoplasia of thumb, unilateral True True True -Orphanet:295112 OBSOLETE: Congenital absence/hypoplasia of thumb, bilateral True True True -Orphanet:295114 OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb, bilateral True True True -Orphanet:295116 OBSOLETE: Adactyly of foot, unilateral True True True -Orphanet:295118 OBSOLETE: Adactyly of foot, bilateral True True True -Orphanet:295120 OBSOLETE: Split hand, unilateral True True True -Orphanet:295122 OBSOLETE: Split hand, bilateral True True True -Orphanet:295124 OBSOLETE: Split foot, unilateral True True True -Orphanet:295126 OBSOLETE: Split foot, bilateral True True True -Orphanet:295128 OBSOLETE: Brachydactyly of fingers, unilateral True True True -Orphanet:295130 OBSOLETE: Brachydactyly of fingers, bilateral True True True -Orphanet:295132 OBSOLETE: Brachydactyly of toes, unilateral True True True -Orphanet:295134 OBSOLETE: Brachydactyly of toes, bilateral True True True -Orphanet:295136 OBSOLETE: Symbrachydactyly of hand and foot, unilateral True True True -Orphanet:295138 OBSOLETE: Symbrachydactyly of hand and foot, bilateral True True True -Orphanet:295140 OBSOLETE: Hyperphalangy, unilateral True True True -Orphanet:295142 OBSOLETE: Hyperphalangy, bilateral True True True -Orphanet:295144 OBSOLETE: Polydactyly of a biphalangeal thumb, unilateral True True True -Orphanet:295146 OBSOLETE: Polydactyly of a biphalangeal thumb, bilateral True True True -Orphanet:295148 OBSOLETE: Polydactyly of a triphalangeal thumb, unilateral True True True -Orphanet:295150 OBSOLETE: Polydactyly of a triphalangeal thumb, bilateral True True True -Orphanet:295152 OBSOLETE: Polydactyly of an index finger, unilateral True True True -Orphanet:295154 OBSOLETE: Polydactyly of an index finger, bilateral True True True -Orphanet:295159 OBSOLETE: Polysyndactyly, unilateral True True True -Orphanet:295161 OBSOLETE: Polysyndactyly, bilateral True True True -Orphanet:295163 OBSOLETE: Postaxial polydactyly type A, unilateral True True True -Orphanet:295165 OBSOLETE: Postaxial polydactyly type A, bilateral True True True -Orphanet:295167 OBSOLETE: Postaxial polydactyly type B, unilateral True True True -Orphanet:295169 OBSOLETE: Postaxial polydactyly type B, bilateral True True True -Orphanet:295171 OBSOLETE: Central polydactyly of fingers, unilateral True True True -Orphanet:295173 OBSOLETE: Central polydactyly of fingers, bilateral True True True -Orphanet:295175 OBSOLETE: Preaxial polydactyly of toes, unilateral True True True -Orphanet:295177 OBSOLETE: Preaxial polydactyly of toes, bilateral True True True Orphanet:295179 OBSOLETE: Postaxial polydactyly of toes, unilateral True True True Orphanet:295181 OBSOLETE: Postaxial polydactyly of toes, bilateral True True True Orphanet:295183 OBSOLETE: Central polydactyly of toes, unilateral True True True Orphanet:295185 OBSOLETE: Central polydactyly of toes, bilateral True True True -Orphanet:295205 OBSOLETE: Humero-radio-ulnar synostosis, unilateral True True True -Orphanet:295207 OBSOLETE: Humero-radio-ulnar synostosis, bilateral True True True -Orphanet:295209 OBSOLETE: Humero-radial synostosis, unilateral True True True -Orphanet:295211 OBSOLETE: Humero-radial synostosis, bilateral True True True -Orphanet:295221 OBSOLETE: Madelung deformity, unilateral True True True -Orphanet:295223 OBSOLETE: Madelung deformity, bilateral True True True -Orphanet:295234 OBSOLETE: Congenital patella dislocation, unilateral True True True -Orphanet:295237 OBSOLETE: Congenital patella dislocation, bilateral True True True -Orphanet:2998 Carnevale syndrome True True True -Orphanet:3022 Rapp-Hodgkin syndrome True True True -Orphanet:3056 X-linked intellectual disability, Brooks type True True True -Orphanet:3062 OBSOLETE: X-linked intellectual disability, Schutz type True True True -Orphanet:306507 LAMB2-related infantile-onset nephrotic syndrome True True True Orphanet:306539 OBSOLETE: Hereditary acrokeratotic poikiloderma of Kindler-Weary True True True -Orphanet:306588 OBSOLETE: Autosomal dominant Opitz G/BBB syndrome True True True -Orphanet:306597 OBSOLETE: X-linked Opitz G/BBB syndrome True True True -Orphanet:3067 OBSOLETE: Intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome True True True Orphanet:306762 OBSOLETE: Progressive epilepsy and/or ataxia with myoclonus as a major feature True True True -Orphanet:3105 Robinow-like syndrome True True True -Orphanet:3128 OBSOLETE: Sakati-Nyhan syndrome True True True -Orphanet:3135 NON RARE IN EUROPE: Scheuermann's disease True True True -Orphanet:3140 NON RARE IN EUROPE: Schizophrenia True True True -Orphanet:314928 NON RARE IN EUROPE: Normal pressure hydrocephalus True True True -Orphanet:314946 OBSOLETE: Mycobacterium xenopi infection True True True -Orphanet:3153 NON RARE IN EUROPE: Adolescent idiopathic scoliosis True True True -Orphanet:3185 NON RARE IN EUROPE: Polycystic ovary syndrome True True True -Orphanet:319314 OBSOLETE: Renal cell carcinoma associated with neuroblastoma True True True -Orphanet:319658 NON RARE IN EUROPE: Unexplained intellectual disability True True True -Orphanet:319681 NON RARE IN EUROPE: Lactase non-persistence in adulthood True True True -Orphanet:319684 NON RARE IN EUROPE: Inosine triphosphate pyrophosphatase deficiency True True True -Orphanet:319691 NON RARE IN EUROPE: Partial color blindness, protan type True True True -Orphanet:319698 NON RARE IN EUROPE: Partial color blindness, deutan type True True True -Orphanet:319705 NON RARE IN EUROPE: Parkinson disease True True True -Orphanet:320317 OBSOLETE: Cleft lip/palate-ectodermal dysplasia syndrome True True True -Orphanet:3221 Generalized resistance to thyroid hormone True True True -Orphanet:324999 JMP syndrome True True True -Orphanet:325004 CANDLE syndrome True True True Orphanet:3267 OBSOLETE: Familial lambdoid synostosis True True True -Orphanet:3289 NON RARE IN EUROPE: Taurodontism True True True Orphanet:329255 Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency True True True Orphanet:330197 OBSOLETE: Genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome True True True -Orphanet:3315 OBSOLETE: Thiopurine S-methyltransferase deficiency True True True -Orphanet:33271 NON RARE IN EUROPE: Non-alcoholic fatty liver disease True True True -Orphanet:33409 NON RARE IN EUROPE: Lichen sclerosus True True True -Orphanet:336 NON RARE IN EUROPE: Fibromuscular dysplasia of arteries True True True -Orphanet:338 Familial multiple fibrofolliculoma True True True -Orphanet:3390 Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome True True True -Orphanet:3391 Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome True True True -Orphanet:34145 NON RARE IN EUROPE: Berger disease True True True -Orphanet:3444 Watson syndrome True True True -Orphanet:3450 Weissenbacher-Zweymuller syndrome True True True -Orphanet:34521 Distal myopathy with early respiratory muscle involvement True True True Orphanet:3460 Torg-Winchester syndrome True True True -Orphanet:35056 NON RARE IN EUROPE: Trimethylaminuria True True True -Orphanet:35061 OBSOLETE: Idiopathic recurrent and disabling cutaneous herpes True True True -Orphanet:35064 OBSOLETE: Lethal idiopathic viral infection True True True -Orphanet:35065 OBSOLETE: Idiopathic severe pneumococcemia True True True -Orphanet:352487 Digital anomalies-intellectual disability-short stature syndrome True True True Orphanet:352740 Ocular albinism with congenital sensorineural deafness True True True -Orphanet:35688 OBSOLETE: Madelung deformity True True True -Orphanet:357 NON RARE IN EUROPE: Gilbert syndrome True True True -Orphanet:362 NON RARE IN EUROPE: Glucose-6-phosphate-dehydrogenase deficiency True True True -Orphanet:36297 NON RARE IN EUROPE: Anorexia nervosa True True True -Orphanet:36414 OBSOLETE: Brain stem tumor True True True -Orphanet:369894 OBSOLETE: Early infantile epileptic encephalopathy without suppression burst True True True -Orphanet:370114 Combined cervical dystonia True True True Orphanet:371054 OBSOLETE: X-linked congenital disorder of glycosylation with intellectual disability as a major feature True True True Orphanet:371064 OBSOLETE: Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature True True True -Orphanet:378 NON RARE IN EUROPE: Sjögren syndrome True True True -Orphanet:383 X-linked mixed deafness with perilymphatic gusher True True True -Orphanet:387 NON RARE IN EUROPE: Hidradenitis suppurativa True True True -Orphanet:40050 NON RARE IN EUROPE: Psoriatic arthritis True True True -Orphanet:401825 Autosomal recessive spastic paraplegia type 68 True True True -Orphanet:411533 NON RARE IN EUROPE: Melanoma True True True -Orphanet:411969 NON RARE IN EUROPE: Metabolic syndrome True True True -Orphanet:413 NON RARE IN EUROPE: Hyperlipoproteinemia type 4 True True True -Orphanet:415268 NON RARE IN EUROPE: Adenocarcinoma of the lung True True True -Orphanet:415300 NON RARE IN EUROPE: Non-arteritic anterior ischemic optic neuropathy True True True -Orphanet:41842 NON RARE IN EUROPE: Fibromyalgia True True True -Orphanet:422519 OBSOLETE: 3-Phosphoglycerate dehydrogenase deficiency True True True -Orphanet:423781 OBSOLETE: Carcinoma of stomach, salivary gland type True True True -Orphanet:430 OBSOLETE: Hypodermyiasis True True True -Orphanet:435 OBSOLETE: Ito hypomelanosis True True True -Orphanet:435623 OBSOLETE: Adactyly of foot True True True -Orphanet:440 OBSOLETE: Familial hypospadias True True True -Orphanet:448348 OBSOLETE: X-linked acrogigantism due to a point mutation True True True -Orphanet:449262 NON RARE IN EUROPE: Primary bile acid malabsorption True True True -Orphanet:453 IBIDS syndrome True True True -Orphanet:45360 NON RARE IN EUROPE: Menière disease True True True -Orphanet:457252 Squamous cell carcinoma of the oral tongue True True True -Orphanet:458713 NON RARE IN EUROPE: Specific language impairment True True True Orphanet:458841 OBSOLETE: Primary lymphedema with associated anomalies True True True -Orphanet:459690 NON RARE IN EUROPE: Gender dysphoria True True True -Orphanet:459696 NON RARE IN EUROPE: Juvenile idiopathic scoliosis True True True -Orphanet:462 NON RARE IN EUROPE: Autosomal dominant ichthyosis vulgaris True True True -Orphanet:464293 NON RARE IN EUROPE: Infantile capillary hemangioma True True True -Orphanet:464463 NON RARE IN EUROPE: Adenocarcinoma of stomach True True True -Orphanet:466667 NON RARE IN EUROPE: Colorectal cancer True True True -Orphanet:466673 NON RARE IN EUROPE: Post-herpetic neuralgia True True True -Orphanet:488201 NON RARE IN EUROPE: Non-small cell lung cancer True True True -Orphanet:489 NON RARE IN EUROPE: Thyroglossal duct cyst True True True -Orphanet:494348 Early-onset familial noncirrhotic portal hypertension True True True -Orphanet:496 Thost-Unna palmoplantar keratoderma True True True Orphanet:498700 OBSOLETE: Limbic encephalitis with neurexin-3 antibodies True True True -Orphanet:50816 Spondylometaphyseal dysplasia with combined immunodeficiency True True True -Orphanet:50838 NON RARE IN EUROPE: Carpal tunnel syndrome True True True -Orphanet:50920 OBSOLETE: Multiple fibroadenoma of the breast True True True -Orphanet:521399 NON RARE IN EUROPE: Non rare obesity True True True -Orphanet:52183 Premature chromosome condensation with microcephaly and intellectual disability True True True -Orphanet:52428 Congenital muscular dystrophy type 1C True True True -Orphanet:529819 NON RARE IN EUROPE: Exfoliation syndrome True True True -Orphanet:555 NON RARE IN EUROPE: Celiac disease True True True -Orphanet:56965 Progressive bulbar paralysis of childhood True True True -Orphanet:58208 NON RARE IN EUROPE: Pericarditis True True True -Orphanet:619 NON RARE IN EUROPE: Primary ovarian failure True True True -Orphanet:620 NON RARE IN EUROPE: Common mesentery True True True Orphanet:623 NAME syndrome True True True -Orphanet:625 NON RARE IN EUROPE: Atypical mole True True True -Orphanet:64738 NON RARE IN EUROPE: Non rare thrombophilia True True True -Orphanet:64740 NON RARE IN EUROPE: Recurrent acute pancreatitis True True True -Orphanet:651 NON RARE IN EUROPE: Idiopathic infantile nystagmus True True True -Orphanet:65279 OBSOLETE: Lymphocytic colitis True True True -Orphanet:670 PIBIDS syndrome True True True -Orphanet:67037 OBSOLETE: Squamous cell carcinoma of head and neck True True True -Orphanet:680 Normokalemic periodic paralysis True True True -Orphanet:69127 NON RARE IN EUROPE: Immunoglobulin A deficiency True True True -Orphanet:706 NON RARE IN EUROPE: Patent arterial duct True True True -Orphanet:71269 OBSOLETE: Benign exophthalmos syndrome True True True Orphanet:717 OBSOLETE: Catecholamine-producing tumor True True True -Orphanet:73220 X-linked intellectual disability-hypotonic face syndrome True True True -Orphanet:73247 NON RARE IN EUROPE: Eosinophilic esophagitis True True True -Orphanet:77 OBSOLETE: Aniridia True True True -Orphanet:771 NON RARE IN EUROPE: Ulcerative colitis True True True -Orphanet:77243 NON RARE IN EUROPE: Lipedema True True True -Orphanet:79022 Simpson-Golabi-Behmel syndrome type 2 True True True -Orphanet:79132 OBSOLETE: Sparse hair-short stature-skin anomalies syndrome True True True -Orphanet:79142 NON RARE IN EUROPE: Familial Dupuytren contracture True True True Orphanet:79211 OBSOLETE: Combined hyperlipidemia True True True -Orphanet:79383 OBSOLETE: Lymphedema True True True -Orphanet:79482 Cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome True True True -Orphanet:79486 Cystic hygroma True True True -Orphanet:79504 Ichthyosis hystrix gravior True True True -Orphanet:802 NON RARE IN EUROPE: Multiple sclerosis True True True -Orphanet:807 Sebastian syndrome True True True Orphanet:82004 Ehlers-Danlos syndrome with periventricular heterotopia True True True -Orphanet:825 NON RARE IN EUROPE: Ankylosing spondylitis True True True -Orphanet:83449 NON RARE IN EUROPE: Inappropriate antidiuretic hormone secretion syndrome True True True Orphanet:83648 OBSOLETE: X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome True True True -Orphanet:84096 OBSOLETE: Unknown leukodystrophy True True True -Orphanet:84271 Sporadic idiopathic steroid-resistant nephrotic syndrome True True True -Orphanet:850 May-Hegglin thrombocytopenia True True True Orphanet:85196 Nodulosis-arthropathy-osteolysis syndrome True True True -Orphanet:85318 OBSOLETE: X-linked intellectual disability-precocious puberty-obesity syndrome True True True -Orphanet:85328 X-linked intellectual disability, Turner type True True True -Orphanet:85330 X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome True True True -Orphanet:855 NON RARE IN EUROPE: Hashimoto thyroiditis True True True -Orphanet:856 NON RARE IN EUROPE: Tourette syndrome True True True -Orphanet:862 NON RARE IN EUROPE: Hereditary essential tremor True True True -Orphanet:89832 OBSOLETE: Syndromic lymphedema True True True -Orphanet:89839 OBSOLETE: Epidermolysis bullosa simplex superficialis True True True -Orphanet:89840 OBSOLETE: Junctional epidermolysis bullosa, non-Herlitz type True True True -Orphanet:89939 NON RARE IN EUROPE: Hyperkalemic renal tubular acidosis True True True -Orphanet:90290 CREST syndrome True True True -Orphanet:90339 OBSOLETE: Rosselli-Gulienetti syndrome True True True -Orphanet:90341 Early-onset sarcoidosis True True True -Orphanet:90649 Orofaciodigital syndrome type 7 True True True -Orphanet:907 NON RARE IN EUROPE: Wolff-Parkinson-White syndrome True True True -Orphanet:924 NON RARE IN EUROPE: Acanthosis nigricans True True True -Orphanet:93206 OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis True True True -Orphanet:93207 OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with minimal change True True True -Orphanet:93209 OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation True True True -Orphanet:93213 OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis True True True -Orphanet:93214 OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation True True True -Orphanet:93216 OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes True True True -Orphanet:93217 OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis True True True -Orphanet:93218 OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis True True True -Orphanet:93220 OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis True True True Orphanet:93221 OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes True True True Orphanet:93222 OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation True True True -Orphanet:93301 Brachyolmia type 1, Hobaek type True True True -Orphanet:93303 Brachyolmia type 1, Toledo type True True True -Orphanet:93385 NON RARE IN EUROPE: Brachydactyly type D True True True -Orphanet:93393 NON RARE IN EUROPE: Brachydactyly type A3 True True True -Orphanet:93550 OBSOLETE: Basement membrane disease True True True -Orphanet:93551 OBSOLETE: Secondary glomerular disease True True True -Orphanet:93575 OBSOLETE: Atypical hemolytic uremic syndrome with C3 anomaly True True True -Orphanet:93576 OBSOLETE: Atypical hemolytic uremic syndrome with MCP/CD46 anomaly True True True -Orphanet:93578 OBSOLETE: Atypical hemolytic uremic syndrome with B factor anomaly True True True -Orphanet:93579 OBSOLETE: Atypical hemolytic uremic syndrome with H factor anomaly True True True -Orphanet:93580 OBSOLETE: Atypical hemolytic uremic syndrome with I factor anomaly True True True -Orphanet:93682 OBSOLETE: Pediatric Castleman disease True True True -Orphanet:93937 OBSOLETE: Terminal transverse defects of arm True True True -Orphanet:93942 OBSOLETE: Superior celosomia True True True -Orphanet:93951 OBSOLETE: X-linked dominant intellectual disability-epilepsy syndrome True True True -Orphanet:93961 OBSOLETE: Laryngeal dyskinesia True True True -Orphanet:93962 OBSOLETE: Cervical dystonia True True True -Orphanet:93968 Meningocele True True True Orphanet:93970 Holmes-Gang syndrome True True True -Orphanet:93971 Chudley-Lowry-Hoar syndrome True True True Orphanet:93972 Juberg-Marsidi syndrome True True True -Orphanet:93973 Carpenter-Waziri syndrome True True True -Orphanet:93974 Smith-Fineman-Myers syndrome True True True Orphanet:93975 OBSOLETE: Renier-Gabreels-Jasper syndrome True True True -Orphanet:95449 OBSOLETE: Congenital aortic valve insufficiency True True True -Orphanet:95484 OBSOLETE: Aneurysm or dilatation of ascending aorta True True True -Orphanet:95493 OBSOLETE: Abnormal origin or aberrant course of coronary artery True True True Orphanet:95701 OBSOLETE: Congenital adrenal hypoplasia of maternal cause True True True Orphanet:96136 OBSOLETE: Non-distal monosomy 7p True True True Orphanet:96152 OBSOLETE: Distal monosomy 20q True True True -Orphanet:965 Acromegaloid facial appearance syndrome True True True -Orphanet:966 Hypertrichosis-acromegaloid facial appearance syndrome True True True -Orphanet:97231 Ligneous conjunctivitis True True True -Orphanet:97295 Furlong syndrome True True True -Orphanet:97354 NON RARE IN EUROPE: Wernicke encephalopathy True True True -Orphanet:97555 OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy True True True Orphanet:97556 Congenital and infantile nephrotic syndrome True True True -Orphanet:97562 NON RARE IN EUROPE: Benign familial hematuria True True True -Orphanet:97927 OBSOLETE: Peripheral resistance to thyroid hormones True True True Orphanet:98345 OBSOLETE: Rare idiopathic male infertility True True True -Orphanet:98464 OBSOLETE: X-linked syndromic intellectual disability True True True -Orphanet:98520 OBSOLETE: Cystic malformation of the posterior fossa True True True -Orphanet:98554 OBSOLETE: Major induction processes eye anomaly True True True Orphanet:98558 OBSOLETE: Rare eye disease due to a differentiation anomaly True True True Orphanet:98559 OBSOLETE: Rare palpebral, lacrimal system and conjunctival disease True True True -Orphanet:98569 OBSOLETE: Secondary entropion True True True -Orphanet:98572 OBSOLETE: Canthal anomaly True True True -Orphanet:98573 OBSOLETE: Epicanthal fold True True True Orphanet:98577 OBSOLETE: Kinetic eyelid anomaly True True True Orphanet:98579 OBSOLETE: Congenital upper palpebral retraction True True True -Orphanet:98580 OBSOLETE: Palpebral tumor True True True -Orphanet:98581 OBSOLETE: Palpebral epidermal tumor True True True -Orphanet:98582 OBSOLETE: Benign tumor of palpebral epidermis True True True -Orphanet:98583 OBSOLETE: Precancerous lesion of palpebral epidermis True True True -Orphanet:98584 OBSOLETE: Malignant tumor of palpebral epidermis True True True -Orphanet:98585 OBSOLETE: Palpebral sebaceous gland tumor True True True -Orphanet:98586 OBSOLETE: Pigmented palpebral tumor True True True -Orphanet:98587 OBSOLETE: Palpebral lentiginosis True True True -Orphanet:98588 OBSOLETE: Palpebral nevus True True True -Orphanet:98590 OBSOLETE: Palpebral piliary tumor True True True -Orphanet:98591 OBSOLETE: Mesenchymatous palpebral tumor True True True Orphanet:98592 OBSOLETE: Palpebral tumor with a vascular malformation True True True -Orphanet:98593 OBSOLETE: Neurogenic palpebral tumor True True True Orphanet:98595 OBSOLETE: Eyebrow/eyelashes hypertrichosis True True True Orphanet:98596 OBSOLETE: Eyebrow hypertrophy True True True Orphanet:98597 OBSOLETE: Eyelashes hypertrophy True True True @@ -10794,15 +10828,10 @@ Orphanet:98598 OBSOLETE: Congenital absence of the eyebrow/eyelashes True True T Orphanet:98599 OBSOLETE: Eyebrow/eyelashes structural anomaly True True True Orphanet:98600 OBSOLETE: Eyebrow/eyelashes distichiasis True True True Orphanet:98601 OBSOLETE: Eyebrow/eyelashes pigmentation anomaly True True True -Orphanet:98603 OBSOLETE: Secretory apparatus of the lacrimal system anomaly True True True -Orphanet:98608 OBSOLETE: Anomaly of the secretory and excretory apparatus of the lacrimal system True True True Orphanet:98611 OBSOLETE: Conjunctival vascular anomaly True True True Orphanet:98612 OBSOLETE: Conjunctival hemangioma or hemolymphangioma True True True Orphanet:98613 OBSOLETE: Conjunctival telangiectasia True True True Orphanet:98614 OBSOLETE: Conjunctival lymphangiectasia True True True -Orphanet:98615 OBSOLETE: Pigmented conjunctival lesion True True True -Orphanet:98616 OBSOLETE: Conjunctival tumor True True True -Orphanet:98617 OBSOLETE: Bulbar conjunctival dermoid or conjunctival dermolipoma True True True Orphanet:98620 OBSOLETE: Syndromic myopia True True True Orphanet:98632 OBSOLETE: Glaucoma associated with neural crest cell migration anomaly True True True Orphanet:98633 OBSOLETE: Goniodysgenesis True True True @@ -10811,13 +10840,10 @@ Orphanet:98637 OBSOLETE: Secondary glaucoma due to a proliferation and different Orphanet:98643 OBSOLETE: Systemic disease with cataract True True True Orphanet:98645 OBSOLETE: Cerebral disease with cataract True True True Orphanet:98647 OBSOLETE: Cardiac disease with cataract True True True -Orphanet:98657 OBSOLETE: Genetic vitreous-retinal disease True True True Orphanet:98662 OBSOLETE: Unclassified familial retinal dystrophy True True True -Orphanet:98664 OBSOLETE: Genetic macular dystrophy True True True Orphanet:98665 OBSOLETE: Colobomatous and areolar dystrophy True True True Orphanet:98666 OBSOLETE: Unclassified primitive or secondary maculopathy True True True -Orphanet:98669 OBSOLETE: Congenital vitreoretinal dysplasia True True True -Orphanet:98682 NON RARE IN EUROPE: Essential strabismus True True True +Orphanet:98667 OBSOLETE: Disease predisposing to age-related macular degeneration True True True Orphanet:98689 OBSOLETE: Myopathy with eye involvement True True True Orphanet:98690 OBSOLETE: Myasthenic syndrome with eye involvement True True True Orphanet:98691 OBSOLETE: Abnormal eye movements True True True @@ -10839,29 +10865,3 @@ Orphanet:98711 OBSOLETE: Metabolic disease with corneal opacity True True True Orphanet:98712 OBSOLETE: Metabolic disease with cataract True True True Orphanet:98713 OBSOLETE: Metabolic disease with pigmentary retinitis True True True Orphanet:98714 OBSOLETE: Metabolic disease with macular cherry-red spot True True True -Orphanet:98770 Spinocerebellar ataxia type 16 True True True -Orphanet:98837 Acute biphenotypic leukemia True True True -Orphanet:98861 Primary ciliary dyskinesia, Kartagener type True True True -Orphanet:98894 Congenital muscular dystrophy type 1D True True True -Orphanet:98941 OBSOLETE: Von Hippel anomaly True True True -Orphanet:99022 OBSOLETE: Niemann-Pick disease type E True True True -Orphanet:99066 OBSOLETE: Complete atrioventricular canal-left heart obstruction syndrome True True True -Orphanet:99085 OBSOLETE: Coronary artery intramyocardial course True True True -Orphanet:99086 OBSOLETE: Aortopulmonary coronary arterial course True True True -Orphanet:99088 OBSOLETE: Intramural coronary arterial course True True True -Orphanet:99108 NON RARE IN EUROPE: Patent foramen ovale True True True -Orphanet:99645 Dappled diaphyseal dysplasia True True True -Orphanet:99706 OBSOLETE: Progeria-associated arthropathy True True True -Orphanet:99715 MASS syndrome True True True -Orphanet:99763 OBSOLETE: Familial hyperreninemic hypoaldosteronism type 1 True True True -Orphanet:99870 OBSOLETE: Letterer-Siwe disease True True True -Orphanet:99871 OBSOLETE: Eosinophilic granuloma True True True -Orphanet:99872 OBSOLETE: Hashimoto-Pritzker syndrome True True True -Orphanet:99873 OBSOLETE: Hand-Sch³ller-Christian disease True True True -Orphanet:99874 OBSOLETE: Adult pulmonary Langerhans cell histiocytosis True True True -Orphanet:99875 OBSOLETE: Ehlers-Danlos syndrome type 7A True True True -Orphanet:99876 OBSOLETE: Ehlers-Danlos syndrome type 7B True True True -Orphanet:99877 OBSOLETE: Familial parathyroid adenoma True True True -Orphanet:99878 OBSOLETE: Primary parathyroid hyperplasia True True True -Orphanet:99888 NON RARE IN EUROPE: Adrenocortical adenoma True True True -Orphanet:99900 Long chain acyl-CoA dehydrogenase deficiency True True True diff --git a/src/ontology/reports/ordo_unmapped_terms.tsv b/src/ontology/reports/ordo_unmapped_terms.tsv index e1e2593b..5ae15de9 100644 --- a/src/ontology/reports/ordo_unmapped_terms.tsv +++ b/src/ontology/reports/ordo_unmapped_terms.tsv @@ -1,33 +1,16 @@ subject_id subject_label -Orphanet:319719 Autoinflammatory syndrome of childhood -Orphanet:306644 Complication after organ transplantation Orphanet:522514 Congenital optic disc excavation of genetic origin Orphanet:519337 Disorder with optic nerve compression -Orphanet:325697 Genetic 46,XX disorder of sex development -Orphanet:325706 Genetic 46,XY disorder of sex development Orphanet:325713 Genetic 46,XY disorder of sex development of endocrine origin Orphanet:269560 Genetic cerebellar malformation -Orphanet:269553 Genetic cerebral malformation Orphanet:522560 Genetic corneal dystrophy -Orphanet:576742 Genetic hemolytic uremic syndrome -Orphanet:183481 Genetic mixed dermis disorder -Orphanet:183616 Genetic neuro-ophthalmological disease -Orphanet:269557 Genetic posterior fossa malformation -Orphanet:448426 Genetic primary orthostatic hypotension Orphanet:522562 Genetic superficial corneal dystrophy Orphanet:269570 Genetic syndrome with a Dandy-Walker malformation as a major feature -Orphanet:254685 Gestational trophoblastic disease Orphanet:324950 Granulomatous autoinflammatory syndrome of childhood Orphanet:519300 Isolated chorioretinal dystrophy -Orphanet:519302 Isolated macular dystrophy Orphanet:522534 Lacrimal drainage system anomaly of genetic origin Orphanet:522552 Lens position anomaly of genetic origin Orphanet:522550 Lens size anomaly of genetic origin -Orphanet:98740 Neurological muscular channelopathy due to a genetic calcium channel defect -Orphanet:98739 Neurological muscular channelopathy due to a genetic chloride channel defect -Orphanet:98741 Neurological muscular channelopathy due to a genetic potassium channel defect -Orphanet:98742 Neurological muscular channelopathy due to a genetic ryanodine receptor defect -Orphanet:98738 Neurological muscular channelopathy due to a genetic sodium channel defect Orphanet:324939 Periodic fever syndrome of childhood Orphanet:324942 Pyogenic autoinflammatory syndrome of childhood Orphanet:617313 Rare disorder due to inadequate sharing of the placenta diff --git a/src/ontology/slurp/doid.tsv b/src/ontology/slurp/doid.tsv index b63862ae..050a6713 100644 --- a/src/ontology/slurp/doid.tsv +++ b/src/ontology/slurp/doid.tsv @@ -34,81 +34,18 @@ MONDO:0956994 astrocytoma, idh-mutant, grade 2 DOID:0081256 MONDO:equivalentTo a MONDO:0956995 astrocytoma, idh-mutant, grade 3 DOID:0081257 MONDO:equivalentTo astrocytoma, IDH-mutant, grade 3 An IDH-mutant anaplastic astrocytoma that is characterized by the presence of increased mitotic activity and anaplastic features. MONDO:0850332 MONDO:0956996 oligodendroglioma, idh-mutant and 1p/19q-codeleted grade 2 DOID:0081281 MONDO:equivalentTo oligodendroglioma, IDH-mutant and 1p/19q-codeleted grade 2 An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as a well differentiated tumor lacking anaplastic features (brisk mitotic activity, microvascular proliferation, necrosis). MONDO:0859592 MONDO:0956997 oligodendroglioma, idh-mutant and 1p/19q-codeleted, grade 3 DOID:0081282 MONDO:equivalentTo oligodendroglioma, IDH-mutant and 1p/19q-codeleted, grade 3 An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as grade 3 tumors associated with a more rapid growth. Grade 3 tumors appear to have abnormalities on chromosomes 9 or 10, along with unusual amounts of growth factors and proteins, which are thought to contribute to the more rapid growth of these gliomas. MONDO:0859592 -MONDO:0957117 bradyopsia 1 DOID:0070363 MONDO:equivalentTo bradyopsia 1 MONDO:0012033 MONDO:0957118 bradyopsia 2 DOID:0070364 MONDO:equivalentTo bradyopsia 2 MONDO:0012033 -MONDO:0957119 nevoid basal cell carcinoma syndrome 1 DOID:0070365 MONDO:equivalentTo nevoid basal cell carcinoma syndrome 1 MONDO:0007187|MONDO:0000426 MONDO:0957120 nevoid basal cell carcinoma syndrome 2 DOID:0070366 MONDO:equivalentTo nevoid basal cell carcinoma syndrome 2 MONDO:0007187 MONDO:0957121 leukoencephalopathy with vanishing white matter 5 DOID:0070367 MONDO:equivalentTo leukoencephalopathy with vanishing white matter 5 MONDO:0011380 MONDO:0957122 leukoencephalopathy with vanishing white matter 4 DOID:0070371 MONDO:equivalentTo leukoencephalopathy with vanishing white matter 4 MONDO:0011380 MONDO:0957123 leukoencephalopathy with vanishing white matter 3 DOID:0070372 MONDO:equivalentTo leukoencephalopathy with vanishing white matter 3 MONDO:0011380 MONDO:0957124 leukoencephalopathy with vanishing white matter 2 DOID:0070373 MONDO:equivalentTo leukoencephalopathy with vanishing white matter 2 MONDO:0011380 -MONDO:0957125 leukoencephalopathy with vanishing white matter 1 DOID:0070374 MONDO:equivalentTo leukoencephalopathy with vanishing white matter 1 MONDO:0011380 -MONDO:0957126 developmental and epileptic encephalopathy 64 DOID:0070375 MONDO:equivalentTo developmental and epileptic encephalopathy 64 MONDO:0100062|MONDO:0000426 MONDO:0957127 developmental and epileptic encephalopathy 31b DOID:0070376 MONDO:equivalentTo developmental and epileptic encephalopathy 31B MONDO:0100062|MONDO:0006025 -MONDO:0957128 developmental and epileptic encephalopathy 96 DOID:0070377 MONDO:equivalentTo developmental and epileptic encephalopathy 96 MONDO:0100062|MONDO:0000426 -MONDO:0957129 developmental and epileptic encephalopathy 109 DOID:0070378 MONDO:equivalentTo developmental and epileptic encephalopathy 109 MONDO:0100062|MONDO:0000426 -MONDO:0957130 developmental and epileptic encephalopathy 6b DOID:0070379 MONDO:equivalentTo developmental and epileptic encephalopathy 6B MONDO:0100062|MONDO:0000426 -MONDO:0957131 developmental and epileptic encephalopathy 85 DOID:0070380 MONDO:equivalentTo developmental and epileptic encephalopathy 85 MONDO:0100062|MONDO:0020604 -MONDO:0957132 developmental and epileptic encephalopathy 90 DOID:0070381 MONDO:equivalentTo developmental and epileptic encephalopathy 90 MONDO:0100062|MONDO:0000425 -MONDO:0957133 developmental and epileptic encephalopathy 95 DOID:0070382 MONDO:equivalentTo developmental and epileptic encephalopathy 95 MONDO:0100062|MONDO:0006025 -MONDO:0957134 developmental and epileptic encephalopathy 97 DOID:0070383 MONDO:equivalentTo developmental and epileptic encephalopathy 97 MONDO:0100062|MONDO:0000426 -MONDO:0957135 developmental and epileptic encephalopathy 98 DOID:0070384 MONDO:equivalentTo developmental and epileptic encephalopathy 98 MONDO:0100062|MONDO:0000426 -MONDO:0957136 developmental and epileptic encephalopathy 99 DOID:0070385 MONDO:equivalentTo developmental and epileptic encephalopathy 99 MONDO:0100062|MONDO:0000426 -MONDO:0957137 developmental and epileptic encephalopathy 100 DOID:0070386 MONDO:equivalentTo developmental and epileptic encephalopathy 100 MONDO:0100062|MONDO:0000426 -MONDO:0957138 developmental and epileptic encephalopathy 101 DOID:0070387 MONDO:equivalentTo developmental and epileptic encephalopathy 101 MONDO:0100062|MONDO:0006025 -MONDO:0957139 developmental and epileptic encephalopathy 102 DOID:0070388 MONDO:equivalentTo developmental and epileptic encephalopathy 102 MONDO:0100062|MONDO:0006025 -MONDO:0957140 developmental and epileptic encephalopathy 103 DOID:0070389 MONDO:equivalentTo developmental and epileptic encephalopathy 103 MONDO:0100062|MONDO:0000426 -MONDO:0957141 developmental and epileptic encephalopathy 104 DOID:0070390 MONDO:equivalentTo developmental and epileptic encephalopathy 104 MONDO:0100062|MONDO:0000426 -MONDO:0957142 developmental and epileptic encephalopathy 105 DOID:0070391 MONDO:equivalentTo developmental and epileptic encephalopathy 105 MONDO:0100062|MONDO:0006025 -MONDO:0957143 developmental and epileptic encephalopathy 106 DOID:0070392 MONDO:equivalentTo developmental and epileptic encephalopathy 106 MONDO:0100062|MONDO:0006025 -MONDO:0957144 developmental and epileptic encephalopathy 107 DOID:0070393 MONDO:equivalentTo developmental and epileptic encephalopathy 107 MONDO:0100062|MONDO:0006025 -MONDO:0957145 developmental and epileptic encephalopathy 108 DOID:0070394 MONDO:equivalentTo developmental and epileptic encephalopathy 108 MONDO:0100062|MONDO:0000426 -MONDO:0957146 developmental and epileptic encephalopathy 110 DOID:0070395 MONDO:equivalentTo developmental and epileptic encephalopathy 110 MONDO:0100062|MONDO:0006025 -MONDO:0957147 hypomyelinating leukodystrophy 23 DOID:0070397 MONDO:equivalentTo hypomyelinating leukodystrophy 23 MONDO:0019046|MONDO:0006025 -MONDO:0957148 hypomyelinating leukodystrophy 15 DOID:0070398 MONDO:equivalentTo hypomyelinating leukodystrophy 15 MONDO:0019046|MONDO:0006025 -MONDO:0957149 hypomyelinating leukodystrophy 18 DOID:0070399 MONDO:equivalentTo hypomyelinating leukodystrophy 18 MONDO:0019046|MONDO:0006025 -MONDO:0957150 hypomyelinating leukodystrophy 19 DOID:0070400 MONDO:equivalentTo hypomyelinating leukodystrophy 19 MONDO:0019046|MONDO:0000426 -MONDO:0957151 hypomyelinating leukodystrophy 25 DOID:0070401 MONDO:equivalentTo hypomyelinating leukodystrophy 25 MONDO:0019046|MONDO:0000426 -MONDO:0957152 hypomyelinating leukodystrophy 22 DOID:0070402 MONDO:equivalentTo hypomyelinating leukodystrophy 22 MONDO:0019046|MONDO:0000426 -MONDO:0957153 hypomyelinating leukodystrophy 26 DOID:0070403 MONDO:equivalentTo hypomyelinating leukodystrophy 26 MONDO:0019046|MONDO:0006025 -MONDO:0957154 hypomyelinating leukodystrophy 17 DOID:0070404 MONDO:equivalentTo hypomyelinating leukodystrophy 17 MONDO:0019046|MONDO:0006025 -MONDO:0957155 hypomyelinating leukodystrophy 16 DOID:0070405 MONDO:equivalentTo hypomyelinating leukodystrophy 16 MONDO:0019046|MONDO:0000426 -MONDO:0957156 hypomyelinating leukodystrophy 24 DOID:0070406 MONDO:equivalentTo hypomyelinating leukodystrophy 24 MONDO:0019046|MONDO:0000426 -MONDO:0957157 hypomyelinating leukodystrophy 21 DOID:0070407 MONDO:equivalentTo hypomyelinating leukodystrophy 21 MONDO:0019046|MONDO:0006025 -MONDO:0957158 hengel-maroofian-schols syndrome DOID:0070408 MONDO:equivalentTo Hengel-Maroofian-Schols syndrome MONDO:0002254|MONDO:0006025 -MONDO:0957159 autosomal recessive spinocerebellar ataxia 28 DOID:0070409 MONDO:equivalentTo autosomal recessive spinocerebellar ataxia 28 MONDO:0015244 -MONDO:0957160 autosomal recessive spinocerebellar ataxia 29 DOID:0070410 MONDO:equivalentTo autosomal recessive spinocerebellar ataxia 29 MONDO:0015244 -MONDO:0957161 autosomal recessive spinocerebellar ataxia 30 DOID:0070411 MONDO:equivalentTo autosomal recessive spinocerebellar ataxia 30 MONDO:0015244 -MONDO:0957162 autosomal recessive spinocerebellar ataxia 31 DOID:0070412 MONDO:equivalentTo autosomal recessive spinocerebellar ataxia 31 MONDO:0015244 -MONDO:0957163 autosomal recessive spinocerebellar ataxia 32 DOID:0070413 MONDO:equivalentTo autosomal recessive spinocerebellar ataxia 32 MONDO:0015244 -MONDO:0957164 autosomal recessive spinocerebellar ataxia 33 DOID:0070414 MONDO:equivalentTo autosomal recessive spinocerebellar ataxia 33 MONDO:0015244 -MONDO:0957165 brachycephaly, trichomegaly, and developmental delay DOID:0070415 MONDO:equivalentTo brachycephaly, trichomegaly, and developmental delay MONDO:0002254|MONDO:0000426 -MONDO:0957166 luo-schoch-yamamoto syndrome DOID:0070416 MONDO:equivalentTo Luo-Schoch-Yamamoto syndrome MONDO:0015802 -MONDO:0957167 neurodevelopmental disorder with speech impairment and dysmorphic facies DOID:0070417 MONDO:equivalentTo neurodevelopmental disorder with speech impairment and dysmorphic facies MONDO:0015802 -MONDO:0957168 vertebral hypersegmentation and orofacial anomalies DOID:0070418 MONDO:equivalentTo vertebral hypersegmentation and orofacial anomalies MONDO:0002254|MONDO:0000426 -MONDO:0957169 acrocardiofacial syndrome DOID:0070419 MONDO:equivalentTo acrocardiofacial syndrome MONDO:0002254 -MONDO:0957170 developmental delay, hypotonia, and impaired language DOID:0070420 MONDO:equivalentTo developmental delay, hypotonia, and impaired language MONDO:0015802 -MONDO:0957171 neurodevelopmental disorder with spasticity and poor growth DOID:0070421 MONDO:equivalentTo neurodevelopmental disorder with spasticity and poor growth MONDO:0019502 -MONDO:0957172 syndromic x-linked intellectual disability pilgorge type DOID:0070422 MONDO:equivalentTo syndromic X-linked intellectual disability Pilgorge type MONDO:0020119 -MONDO:0957173 early onset progressive encephalopathy with brain atrophy and thin corpus callosum DOID:0070423 MONDO:equivalentTo early onset progressive encephalopathy with brain atrophy and thin corpus callosum MONDO:0019502 -MONDO:0957174 becker disease DOID:0081335 MONDO:equivalentTo Becker disease A myotonia congenita that is characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1) on chromosome 7q34. MONDO:0009710|MONDO:0006025 -MONDO:0957175 thomsen disease DOID:0081336 MONDO:equivalentTo Thomsen disease A myotonia congenita that is characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction and that has_material_basis_in heterozygous mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1) on chromosome 7q34. MONDO:0009710|MONDO:0000426 -MONDO:0957176 congenital myopathy DOID:0081337 MONDO:equivalentTo congenital myopathy A myopathy that is characterized by hypotonia and weakness, usually present from birth. MONDO:0005336 -MONDO:0957177 myofibrillar myopathy 11 DOID:0081338 MONDO:equivalentTo myofibrillar myopathy 11 A myofibrillar myopathy that is characterized by onset of slowly progressive proximal muscle weakness in the first decade of life and that has_material_basis_in homozygous or compound heterozygous mutation in the UNC45B gene on chromosome 17q11. MONDO:0018943 -MONDO:0957178 spinal muscular atrophy, jokela type DOID:0081356 MONDO:equivalentTo spinal muscular atrophy, Jokela type A spinal muscular atrophy that is characterized by adult-onset of muscle cramps and fasciculations affecting the proximal and distal muscles of the upper and lower limbs and that has_material_basis_in heterozygous mutation in the CHCHD10 gene on chromosome 22q11. MONDO:0001516|MONDO:0000426 -MONDO:0957179 isolated mitochondrial myopathy DOID:0081357 MONDO:equivalentTo isolated mitochondrial myopathy A mitochondrial myopathy that is characterized by onset of proximal lower limb weakness and exercise intolerance in the first decade of life and that has_material_basis_in heterozygous mutation in the CHCHD10 gene on chromosome 22q11. MONDO:0009637|MONDO:0000426 -MONDO:0957180 epidermolytic hyperkeratosis 1 DOID:0081358 MONDO:equivalentTo epidermolytic hyperkeratosis 1 An epidermolytic hyperkeratosis that is characterized in adulthood by warty flexural hyperkeratosis with fewer erosions and blisters and that usually presents at birth with erythema and blistering and that has_material_basis_in heterozygous mutation in the keratin-1 gene (KRT1) on chromosome 12q13. MONDO:0007239|MONDO:0000426 MONDO:0957181 epidermolytic hyperkeratosis 2 DOID:0081359 MONDO:equivalentTo epidermolytic hyperkeratosis 2 An epidermolytic hyperkeratosis that is characterized by generalized erythema, erosions, scaling, and easily breaking blisters that become less frequent later in life, while hyperkeratosis increases and that has_material_basis_in heterozygous or homozygous mutation in the keratin-10 gene (KRT10) on chromosome 17q21. MONDO:0007239 -MONDO:0957182 spastic quadriplegic cerebral palsy 2 DOID:0081360 MONDO:equivalentTo spastic quadriplegic cerebral palsy 2 A spastic quadriplegic cerebral palsy that has_material_basis_in deletion of the ANKRD15 gene (KANK1) inherited on the paternal allele. MONDO:0016215 -MONDO:0957183 spastic quadriplegic cerebral palsy 3 DOID:0081361 MONDO:equivalentTo spastic quadriplegic cerebral palsy 3 A spastic quadriplegic cerebral palsy that has_material_basis_in homozygous mutation in the ADD3 gene on chromosome 10q24. MONDO:0016215|MONDO:0006025 -MONDO:0957184 pierpont syndrome DOID:0081362 MONDO:equivalentTo Pierpont syndrome An autosomal dominant intellectual developmental disorder that is characteried by distinctive facial characteristics, especially when smiling, plantar fat pads, and other limb anomalies and that has_material_basis_in heterozygous mutation in the TBL1XR1 gene on chromosome 3q26. MONDO:0015802 -MONDO:0957185 distal myopathy with rimmed vacuoles DOID:0081363 MONDO:equivalentTo distal myopathy with rimmed vacuoles A distal myopathy that is characterized by adult onset of muscle weakness affecting the distal upper and lower limbs, which may result in walking difficulties, as well as proximal weakness of the shoulder girdle muscles and that has_material_basis_in by heterozygous mutation in the SQSTM1 gene on chromosome 5q35. MONDO:0018949|MONDO:0000426 -MONDO:0957186 neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset DOID:0081364 MONDO:equivalentTo neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset A neurodegenerative disease that is characterized by onset of gait ataxia, cognitive decline, and gaze palsy in the first or second decades and that has_material_basis_in homozygous mutation in the SQSTM1 gene on chromosome 5q35. MONDO:0005559 -MONDO:0957187 paget's disease of bone 2 DOID:0081365 MONDO:equivalentTo Paget's disease of bone 2 A Paget's disease of bone that has_material_basis_in heterozygous mutation in the TNFRSF11A gene, which encodes RANK, on chromosome 18q21. MONDO:0005382|MONDO:0000426 -MONDO:0957188 paget's disease of bone 3 DOID:0081366 MONDO:equivalentTo Paget's disease of bone 3 A Paget's disease of bone that has_material_basis_in heterozygous mutation in the SQSTM1 gene on chromosome 5q35. MONDO:0005382|MONDO:0000426 -MONDO:0957189 paget's disease of bone 4 DOID:0081367 MONDO:equivalentTo Paget's disease of bone 4 A Paget's disease of bone that has_material_basis_in linkage to the 5q31 region within 12.2 cM, between D5S642 and D5S1972. MONDO:0005382|MONDO:0000426 -MONDO:0957190 paget's disease of bone 5 DOID:0081368 MONDO:equivalentTo Paget's disease of bone 5 A Paget's disease of bone that is characterized by short stature, progressive long bone deformities, fractures, vertebral collapse, skull enlargement, and hyperostosis with progressive deafness and that has_material_basis_in osteoprotegerin deficiency caused by homozygous or compound heterozygous mutation in the TNFRSF11B gene on chromosome 8q24. MONDO:0005382|MONDO:0006025 -MONDO:0957191 paget's disease of bone 6 DOID:0081369 MONDO:equivalentTo Paget's disease of bone 6 A Paget's disease of bone that is characterized by adult onset of bone pain associated with polyostotic bone lesions primarily affecting the axial skeleton and that has_material_basis_in heterozygous mutation in the ZNF687 gene on chromosome 1q21. MONDO:0005382|MONDO:0000426 MONDO:0957195 digenic disease DOID:0080578 MONDO:equivalentTo digenic disease MONDO:0957196 diffuse midline glioma, h3 k27m-mutant DOID:0080684 MONDO:equivalentTo diffuse midline glioma, H3 K27M-mutant A histone mutated tumor that is characterized by the presence of histone H3 K27M mutation located throughout the midline structures of the central nervous system. MONDO:0957197 diffuse glioma, h3 g34 mutant DOID:0080880 MONDO:equivalentTo diffuse glioma, H3 G34 mutant A histone mutated tumor that has_material_basis_in mutations in codon 34 of the H3 histone family 3A protein. +MONDO:0957327 congenital myopathy 20 DOID:0081352 MONDO:equivalentTo congenital myopathy 20 A congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the RYR3 gene on chromosome 15q13 and that shows wide phenotypic variability. Some patients present in early childhood with proximal muscle weakness affecting the lower and upper limbs resulting in difficulties running and climbing, whereas others present soon after birth with congenital limb or distal contractures. MONDO:0019952|MONDO:0006025 +MONDO:0957328 congenital myopathy 21 DOID:0081353 MONDO:equivalentTo congenital myopathy 21 A congenital myopathy that is characterized by diaphragmatic weakness and spinal rigidity and that has_material_basis_in homozygous mutation in the DNAJB4 gene on chromosome 1p31. MONDO:0019952|MONDO:0006025 +MONDO:0957329 congenital myopathy 22a DOID:0081354 MONDO:equivalentTo congenital myopathy 22A A congenital myopathy that is characterized by onset of muscle weakness in utero or soon after birth and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23. Biallelic mutation in the SCN4A gene also causes severe fetal congenital myopathy 22B. MONDO:0019952|MONDO:0006025 +MONDO:0957330 congenital myopathy 22b DOID:0081355 MONDO:equivalentTo congenital myopathy 22B A congenital myopathy that is characterized by in utero onset of severe muscle weakness manifest as fetal akinesia and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23. MONDO:0019952|MONDO:0006025 diff --git a/src/ontology/slurp/ncit.tsv b/src/ontology/slurp/ncit.tsv index a8a1e0f6..4a088ad6 100644 --- a/src/ontology/slurp/ncit.tsv +++ b/src/ontology/slurp/ncit.tsv @@ -2105,7 +2105,6 @@ MONDO:0860067 intestinal precancerous condition NCIT:C7657 MONDO:equivalentTo In MONDO:0860068 digestive system precancerous condition NCIT:C7659 MONDO:equivalentTo Digestive System Precancerous Condition MONDO:0860069 cutaneous precancerous condition NCIT:C8957 MONDO:equivalentTo Cutaneous Precancerous Condition MONDO:0860070 neonatal disorder NCIT:C98996 MONDO:equivalentTo Neonatal Disorder -MONDO:0950124 cic-rearranged sarcoma NCIT:C120224 MONDO:equivalentTo CIC-Rearranged Sarcoma MONDO:0858921 MONDO:0950158 core binding factor acute myeloid leukemia NCIT:C122688 MONDO:equivalentTo Core Binding Factor Acute Myeloid Leukemia MONDO:0020078 MONDO:0955884 adult acute eosinophilic leukemia NCIT:C7963 MONDO:equivalentTo Adult Acute Eosinophilic Leukemia MONDO:0043881 MONDO:0956043 acute myeloid leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2); gata2, mecom NCIT:C82426 MONDO:equivalentTo Acute Myeloid Leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2); GATA2, MECOM MONDO:0020078 @@ -2113,3 +2112,4 @@ MONDO:0956044 acute myeloid leukemia (megakaryoblastic) with t(1;22)(p13.3;q13.1 MONDO:0956704 childhood acute eosinophilic leukemia NCIT:C9165 MONDO:equivalentTo Childhood Acute Eosinophilic Leukemia MONDO:0043881 MONDO:0956756 acute myeloid leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); cbfb-myh11 NCIT:C9287 MONDO:equivalentTo Acute Myeloid Leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11 MONDO:0020078 MONDO:0956757 acute myeloid leukemia with t(8;21); (q22; q22.1); runx1-runx1t1 NCIT:C9288 MONDO:equivalentTo Acute Myeloid Leukemia with t(8;21); (q22; q22.1); RUNX1-RUNX1T1 MONDO:0020078 +MONDO:0957332 ewsr1-negative small round cell tumor NCIT:C165671 MONDO:equivalentTo EWSR1-Negative Small Round Cell Tumor MONDO:0006974 diff --git a/src/ontology/slurp/omim.tsv b/src/ontology/slurp/omim.tsv index 88d9302d..ff0f6ef5 100644 --- a/src/ontology/slurp/omim.tsv +++ b/src/ontology/slurp/omim.tsv @@ -1,67 +1,33 @@ 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:0957193 hearing loss, noise-induced, susceptibility to OMIM:613035 MONDO:equivalentTo hearing loss, noise-induced, susceptibility to -MONDO:0957199 mpc1l OMIM:301103 MONDO:equivalentTo MPC1L -MONDO:0957200 ppp1r3f OMIM:301104 MONDO:equivalentTo PPP1R3F -MONDO:0957201 ct55 OMIM:301105 MONDO:equivalentTo CT55 MONDO:0957202 spermatogenic failure, x-linked, 7 OMIM:301106 MONDO:equivalentTo spermatogenic failure, x-linked, 7 MONDO:0004983 MONDO:0957203 intellectual developmental disorder, x-linked 111 OMIM:301107 MONDO:equivalentTo intellectual developmental disorder, X-linked 111 MONDO:0019181 MONDO:0957204 autoinflammation with pulmonary and cutaneous vasculitis OMIM:620296 MONDO:equivalentTo autoinflammation with pulmonary and cutaneous vasculitis -MONDO:0957205 mfsd4a OMIM:620299 MONDO:equivalentTo MFSD4A -MONDO:0957206 mfsd9 OMIM:620301 MONDO:equivalentTo MFSD9 -MONDO:0957207 wdr76 OMIM:620302 MONDO:equivalentTo WDR76 MONDO:0957208 pituitary hormone deficiency, combined or isolated, 8 OMIM:620303 MONDO:equivalentTo pituitary hormone deficiency, combined or isolated, 8 MONDO:0013099 -MONDO:0957209 nol9 OMIM:620304 MONDO:equivalentTo NOL9 MONDO:0957210 neurooculorenal syndrome OMIM:620305 MONDO:equivalentTo neurooculorenal syndrome MONDO:0957211 neurodegeneration and seizures due to copper transport defect OMIM:620306 MONDO:equivalentTo neurodegeneration and seizures due to copper transport defect -MONDO:0957212 wdr24 OMIM:620307 MONDO:equivalentTo WDR24 -MONDO:0957213 mfsd3 OMIM:620308 MONDO:equivalentTo MFSD3 -MONDO:0957214 fam171b OMIM:620309 MONDO:equivalentTo FAM171B MONDO:0957215 congenital myopathy 20 OMIM:620310 MONDO:equivalentTo congenital myopathy 20 MONDO:0019952 MONDO:0957216 premature ovarian failure 21 OMIM:620311 MONDO:equivalentTo premature ovarian failure 21 MONDO:0019852 MONDO:0957217 cortical dysplasia, complex, with other brain malformations 12 OMIM:620316 MONDO:equivalentTo cortical dysplasia, complex, with other brain malformations 12 MONDO:0000904 MONDO:0957218 neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities OMIM:620317 MONDO:equivalentTo neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities -MONDO:0957219 slc49a3 OMIM:620318 MONDO:equivalentTo SLC49A3 MONDO:0957220 oocyte/zygote/embryo maturation arrest 17 OMIM:620319 MONDO:equivalentTo oocyte/zygote/embryo maturation arrest 17 MONDO:0014769 MONDO:0957221 spastic paraplegia 70, autosomal recessive OMIM:620323 MONDO:equivalentTo spastic paraplegia 70, autosomal recessive MONDO:0019064 -MONDO:0957222 slc15a5 OMIM:620324 MONDO:equivalentTo SLC15A5 -MONDO:0957223 tmem144 OMIM:620325 MONDO:equivalentTo TMEM144 MONDO:0957224 congenital myopathy 21 with early respiratory failure OMIM:620326 MONDO:equivalentTo congenital myopathy 21 with early respiratory failure MONDO:0019952 MONDO:0957225 neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities OMIM:620327 MONDO:equivalentTo neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities -MONDO:0957226 slc44a3 OMIM:620328 MONDO:equivalentTo SLC44A3 -MONDO:0957227 slc44a5 OMIM:620329 MONDO:equivalentTo SLC44A5 MONDO:0957228 intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities OMIM:620330 MONDO:equivalentTo intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities MONDO:0100172 MONDO:0957229 hatipoglu immunodeficiency syndrome OMIM:620331 MONDO:equivalentTo hatipoglu immunodeficiency syndrome MONDO:0021094 MONDO:0957230 oocyte/zygote/embryo maturation arrest 18 OMIM:620332 MONDO:equivalentTo oocyte/zygote/embryo maturation arrest 18 MONDO:0014769 MONDO:0957231 oocyte/zygote/embryo maturation arrest 19 OMIM:620333 MONDO:equivalentTo oocyte/zygote/embryo maturation arrest 19 MONDO:0014769 -MONDO:0957232 trim42 OMIM:620334 MONDO:equivalentTo TRIM42 -MONDO:0957233 cdc20b OMIM:620335 MONDO:equivalentTo CDC20B -MONDO:0957234 zswim3 OMIM:620336 MONDO:equivalentTo ZSWIM3 -MONDO:0957235 slc35e1 OMIM:620337 MONDO:equivalentTo SLC35E1 -MONDO:0957236 slc9c2 OMIM:620338 MONDO:equivalentTo SLC9C2 -MONDO:0957237 slc23a3 OMIM:620339 MONDO:equivalentTo SLC23A3 -MONDO:0957238 nipal1 OMIM:620340 MONDO:equivalentTo NIPAL1 -MONDO:0957239 wdr75 OMIM:620341 MONDO:equivalentTo WDR75 MONDO:0957240 cone-rod dystrophy 24 OMIM:620342 MONDO:equivalentTo cone-rod dystrophy 24 MONDO:0015993 -MONDO:0957241 mfsd5 OMIM:620345 MONDO:equivalentTo MFSD5 -MONDO:0957242 mfsd11 OMIM:620346 MONDO:equivalentTo MFSD11 -MONDO:0957243 mfsd14a OMIM:620347 MONDO:equivalentTo MFSD14A -MONDO:0957244 mfsd14b OMIM:620348 MONDO:equivalentTo MFSD14B -MONDO:0957245 slc35f1 OMIM:620349 MONDO:equivalentTo SLC35F1 -MONDO:0957246 slc35f2 OMIM:620350 MONDO:equivalentTo SLC35F2 MONDO:0957247 congenital myopathy 22a, classic OMIM:620351 MONDO:equivalentTo congenital myopathy 22a, classic MONDO:0019952 MONDO:0957248 developmental and epileptic encephalopathy 31b OMIM:620352 MONDO:equivalentTo developmental and epileptic encephalopathy 31b MONDO:0100062 MONDO:0957249 spermatogenic failure 82 OMIM:620353 MONDO:equivalentTo spermatogenic failure 82 MONDO:0004983 MONDO:0957250 spermatogenic failure 83 OMIM:620354 MONDO:equivalentTo spermatogenic failure 83 MONDO:0004983 -MONDO:0957251 slc35e3 OMIM:620355 MONDO:equivalentTo SLC35E3 MONDO:0957252 ciliary dyskinesia, primary, 50 OMIM:620356 MONDO:equivalentTo ciliary dyskinesia, primary, 50 MONDO:0016575 MONDO:0957253 diarrhea 13 OMIM:620357 MONDO:equivalentTo diarrhea 13 MONDO:0000824 MONDO:0957254 mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 4a OMIM:620358 MONDO:equivalentTo mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 4a MONDO:0014471 MONDO:0957255 mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 7 OMIM:620359 MONDO:equivalentTo mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 7 MONDO:0014471 -MONDO:0957256 tprx2 OMIM:620360 MONDO:equivalentTo TPRX2 -MONDO:0957257 rnu5d-1 OMIM:620361 MONDO:equivalentTo RNU5D-1 -MONDO:0957258 rnu5e-1 OMIM:620362 MONDO:equivalentTo RNU5E-1 -MONDO:0957259 rnu5f-1 OMIM:620363 MONDO:equivalentTo RNU5F-1 MONDO:0957260 combined low ldl and fibrinogen OMIM:620364 MONDO:equivalentTo combined low ldl and fibrinogen MONDO:0957261 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 OMIM:620365 MONDO:equivalentTo pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 MONDO:0000148 MONDO:0957262 osteopetrosis, autosomal recessive 9 OMIM:620366 MONDO:equivalentTo osteopetrosis, autosomal recessive 9 MONDO:0019026 @@ -71,51 +37,22 @@ MONDO:0957265 congenital myopathy 22b, severe fetal OMIM:620369 MONDO:equivalent MONDO:0957266 recon progeroid syndrome OMIM:620370 MONDO:equivalentTo recon progeroid syndrome MONDO:0957267 neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity OMIM:620371 MONDO:equivalentTo neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity MONDO:0957268 hypersulfaturia OMIM:620372 MONDO:equivalentTo hypersulfaturia -MONDO:0957269 adissp OMIM:620373 MONDO:equivalentTo ADISSP MONDO:0957270 myopathy, limb-girdle, adult-onset OMIM:620375 MONDO:equivalentTo myopathy, limb-girdle, adult-onset MONDO:0957271 autoinflammatory disease, systemic, with vasculitis OMIM:620376 MONDO:equivalentTo autoinflammatory disease, systemic, with vasculitis -MONDO:0957272 armc12 OMIM:620377 MONDO:equivalentTo ARMC12 MONDO:0957273 charcot-marie-tooth disease, dominant intermediate a OMIM:620378 MONDO:equivalentTo charcot-marie-tooth disease, dominant intermediate a MONDO:0957274 spastic paraplegia 89, autosomal recessive OMIM:620379 MONDO:equivalentTo spastic paraplegia 89, autosomal recessive MONDO:0019064 -MONDO:0957275 letm2 OMIM:620380 MONDO:equivalentTo LETM2 -MONDO:0957276 cfap61 OMIM:620381 MONDO:equivalentTo CFAP61 -MONDO:0957277 zcchc9 OMIM:620382 MONDO:equivalentTo ZCCHC9 MONDO:0957278 oocyte/zygote/embryo maturation arrest 20 OMIM:620383 MONDO:equivalentTo oocyte/zygote/embryo maturation arrest 20 MONDO:0014769 MONDO:0957279 auditory neuropathy, autosomal dominant 2 OMIM:620384 MONDO:equivalentTo auditory neuropathy, autosomal dominant 2 -MONDO:0957280 armc1 OMIM:620385 MONDO:equivalentTo ARMC1 MONDO:0957281 nemaline myopathy 5b, autosomal recessive, childhood-onset OMIM:620386 MONDO:equivalentTo nemaline myopathy 5b, autosomal recessive, childhood-onset MONDO:0018958 -MONDO:0957282 tbc1d21 OMIM:620387 MONDO:equivalentTo TBC1D21 -MONDO:0957283 dbndd1 OMIM:620388 MONDO:equivalentTo DBNDD1 MONDO:0957284 nemaline myopathy 5c, autosomal dominant OMIM:620389 MONDO:equivalentTo nemaline myopathy 5c, autosomal dominant MONDO:0018958 -MONDO:0957285 heatr1 OMIM:620390 MONDO:equivalentTo HEATR1 -MONDO:0957286 parp16 OMIM:620391 MONDO:equivalentTo PARP16 -MONDO:0957287 abitram OMIM:620392 MONDO:equivalentTo ABITRAM MONDO:0957288 intellectual developmental disorder, autosomal recessive 79 OMIM:620393 MONDO:equivalentTo intellectual developmental disorder, autosomal recessive 79 MONDO:0019502 -MONDO:0957289 pskh2 OMIM:620394 MONDO:equivalentTo PSKH2 -MONDO:0957290 ccnj OMIM:620395 MONDO:equivalentTo CCNJ -MONDO:0957291 ccnp OMIM:620396 MONDO:equivalentTo CCNP -MONDO:0957292 aunip OMIM:620397 MONDO:equivalentTo AUNIP -MONDO:0957293 adck1 OMIM:620399 MONDO:equivalentTo ADCK1 MONDO:0957294 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9 OMIM:620400 MONDO:equivalentTo pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9 MONDO:0000148 -MONDO:0957295 inka2 OMIM:620403 MONDO:equivalentTo INKA2 -MONDO:0957296 csrnp2 OMIM:620404 MONDO:equivalentTo CSRNP2 -MONDO:0957297 csrnp3 OMIM:620405 MONDO:equivalentTo CSRNP3 -MONDO:0957298 mcts2 OMIM:620406 MONDO:equivalentTo MCTS2 -MONDO:0957299 mimt1 OMIM:620407 MONDO:equivalentTo MIMT1 -MONDO:0957300 mir337 OMIM:620408 MONDO:equivalentTo MIR337 MONDO:0957301 spermatogenic failure 84 OMIM:620409 MONDO:equivalentTo spermatogenic failure 84 MONDO:0004983 MONDO:0957302 low density lipoprotein cholesterol level quantitative trait locus 3 OMIM:620410 MONDO:equivalentTo low density lipoprotein cholesterol level quantitative trait locus 3 MONDO:0957303 palmoplantar keratoderma, epidermolytic, 2 OMIM:620411 MONDO:equivalentTo palmoplantar keratoderma, epidermolytic, 2 -MONDO:0957304 nama OMIM:620412 MONDO:equivalentTo NAMA -MONDO:0957305 gask1a OMIM:620413 MONDO:equivalentTo GASK1A -MONDO:0957306 sbk2 OMIM:620414 MONDO:equivalentTo SBK2 MONDO:0957307 woolly hair-skin fragility syndrome OMIM:620415 MONDO:equivalentTo woolly hair-skin fragility syndrome MONDO:0957308 spastic paraplegia 90a, autosomal dominant OMIM:620416 MONDO:equivalentTo spastic paraplegia 90a, autosomal dominant MONDO:0019064 MONDO:0957309 spastic paraplegia 90b, autosomal recessive OMIM:620417 MONDO:equivalentTo spastic paraplegia 90b, autosomal recessive MONDO:0019064 -MONDO:0957310 nrir OMIM:620418 MONDO:equivalentTo NRIR -MONDO:0957311 ccni2 OMIM:620419 MONDO:equivalentTo CCNI2 -MONDO:0957312 higd1b OMIM:620420 MONDO:equivalentTo HIGD1B -MONDO:0957313 dcaf4l2 OMIM:620421 MONDO:equivalentTo DCAF4L2 MONDO:0957314 retinitis pigmentosa 97 OMIM:620422 MONDO:equivalentTo retinitis pigmentosa 97 MONDO:0957315 basal cell nevus syndrome OMIMPS:109400 MONDO:equivalentTo Basal cell nevus syndrome MONDO:0957316 epidermolytic hyperkeratosis OMIMPS:113800 MONDO:equivalentTo Epidermolytic hyperkeratosis diff --git a/src/ontology/slurp/ordo.tsv b/src/ontology/slurp/ordo.tsv index 3bba479a..62e42008 100644 --- a/src/ontology/slurp/ordo.tsv +++ b/src/ontology/slurp/ordo.tsv @@ -1,72 +1,37 @@ 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:0956999 genetic hyperpigmentation of the skin Orphanet:183466 MONDO:equivalentTo Genetic hyperpigmentation of the skin MONDO:8000033|MONDO:0026157 -MONDO:0957000 genetic hypopigmentation of the skin Orphanet:183469 MONDO:equivalentTo Genetic hypopigmentation of the skin MONDO:8000033|MONDO:0026157 MONDO:0957001 genetic mixed dermis disorder Orphanet:183481 MONDO:equivalentTo Genetic mixed dermis disorder MONDO:8000033|MONDO:0026160 -MONDO:0957002 genetic lens and zonula anomaly Orphanet:183607 MONDO:equivalentTo Genetic lens and zonula anomaly MONDO:8000033 MONDO:0957003 genetic neuro-ophthalmological disease Orphanet:183616 MONDO:equivalentTo Genetic neuro-ophthalmological disease MONDO:8000033|MONDO:0035037 -MONDO:0957004 prediction of resistance to clopidogrel Orphanet:240935 MONDO:equivalentTo Prediction of resistance to clopidogrel MONDO:8000034|MONDO:0032014 -MONDO:0957005 prediction of resistance to tamoxifene Orphanet:240947 MONDO:equivalentTo Prediction of resistance to tamoxifene MONDO:8000034|MONDO:0032014 -MONDO:0957006 tacrolimus dose selection Orphanet:241043 MONDO:equivalentTo Tacrolimus dose selection MONDO:8000034|MONDO:0032014 MONDO:0957007 gestational trophoblastic disease Orphanet:254685 MONDO:equivalentTo Gestational trophoblastic disease MONDO:0020037|MONDO:8000033 MONDO:0957008 genetic cerebral malformation Orphanet:269553 MONDO:equivalentTo Genetic cerebral malformation MONDO:8000033 MONDO:0957009 genetic posterior fossa malformation Orphanet:269557 MONDO:equivalentTo Genetic posterior fossa malformation MONDO:8000033 -MONDO:0957011 genetic syndrome with a cerebellar malformation as a major feature Orphanet:269567 MONDO:equivalentTo Genetic syndrome with a cerebellar malformation as a major feature MONDO:8000033 -MONDO:0957013 rare pediatric vasculitis Orphanet:280369 MONDO:equivalentTo Rare pediatric vasculitis MONDO:8000033|MONDO:0029014 -MONDO:0957014 prediction of response to antiviral treatment in hepatitis c Orphanet:284102 MONDO:equivalentTo Prediction of response to antiviral treatment in hepatitis C MONDO:8000034|MONDO:0032014 -MONDO:0957015 prediction of toxicity or absent response to clozapine Orphanet:284121 MONDO:equivalentTo Prediction of toxicity or absent response to clozapine MONDO:8000034|MONDO:0032014 MONDO:0957016 complication after organ transplantation Orphanet:306644 MONDO:equivalentTo Complication after organ transplantation MONDO:0035426|MONDO:8000034|MONDO:0032014 -MONDO:0957017 selection of therapeutic option in aids Orphanet:319269 MONDO:equivalentTo Selection of therapeutic option in AIDS MONDO:8000034|MONDO:0032014 MONDO:0957018 autoinflammatory syndrome of childhood Orphanet:319719 MONDO:equivalentTo Autoinflammatory syndrome of childhood MONDO:8000033 MONDO:0957024 genetic 46,xx disorder of sex development Orphanet:325697 MONDO:equivalentTo Genetic 46,XX disorder of sex development MONDO:8000033|MONDO:0031016 MONDO:0957025 genetic 46,xy disorder of sex development Orphanet:325706 MONDO:equivalentTo Genetic 46,XY disorder of sex development MONDO:8000033|MONDO:0031016 -MONDO:0957027 selection of therapeutic option in non-small cell lung carcinoma Orphanet:357191 MONDO:equivalentTo Selection of therapeutic option in non-small cell lung carcinoma MONDO:8000034|MONDO:0032014 -MONDO:0957028 selection of therapeutic option in colorectal cancer Orphanet:357194 MONDO:equivalentTo Selection of therapeutic option in colorectal cancer MONDO:8000034|MONDO:0032014 -MONDO:0957029 genetic non-syndromic renal or urinary tract malformation Orphanet:357506 MONDO:equivalentTo Genetic non-syndromic renal or urinary tract malformation MONDO:8000033|MONDO:0026181 -MONDO:0957030 prediction of resistance to bleomycine in the treatment of testicular cancer Orphanet:364195 MONDO:equivalentTo Prediction of resistance to bleomycine in the treatment of testicular cancer MONDO:8000034|MONDO:0032014 -MONDO:0957031 genetic syndrome with limb reduction defects Orphanet:404574 MONDO:equivalentTo Genetic syndrome with limb reduction defects MONDO:8000033|MONDO:0018455 -MONDO:0957032 prediction of toxicity or dose selection of antidepressants or antipsychotics Orphanet:413667 MONDO:equivalentTo Prediction of toxicity or dose selection of antidepressants or antipsychotics MONDO:8000034|MONDO:0032014 -MONDO:0957033 prediction of toxicity or dose selection of vitamin k antagonists Orphanet:413674 MONDO:equivalentTo Prediction of toxicity or dose selection of vitamin K antagonists MONDO:8000034|MONDO:0032014 -MONDO:0957034 prediction of toxicity or dose selection of oral antidiabetic drugs Orphanet:413681 MONDO:equivalentTo Prediction of toxicity or dose selection of oral antidiabetic drugs MONDO:8000034|MONDO:0032014 -MONDO:0957035 prediction of resistance to vitamin k antagonists Orphanet:413684 MONDO:equivalentTo Prediction of resistance to vitamin K antagonists MONDO:8000034|MONDO:0032014 -MONDO:0957036 prediction of toxicity or dose selection of thiopurine drugs Orphanet:413687 MONDO:equivalentTo Prediction of toxicity or dose selection of thiopurine drugs MONDO:8000034|MONDO:0032014 MONDO:0957037 genetic primary orthostatic hypotension Orphanet:448426 MONDO:equivalentTo Genetic primary orthostatic hypotension MONDO:8000033|MONDO:0035013 -MONDO:0957038 antibiotic therapy dose selection Orphanet:449306 MONDO:equivalentTo Antibiotic therapy dose selection MONDO:8000034|MONDO:0032014 -MONDO:0957040 rare disorder of the ocular adnexa Orphanet:519266 MONDO:equivalentTo Rare disorder of the ocular adnexa MONDO:8000033|MONDO:0035001 -MONDO:0957041 rare corneal disorder Orphanet:519282 MONDO:equivalentTo Rare corneal disorder MONDO:8000033 -MONDO:0957042 rare disorder of the pupil Orphanet:519286 MONDO:equivalentTo Rare disorder of the pupil MONDO:8000033 -MONDO:0957046 rare scleral disorder Orphanet:519298 MONDO:equivalentTo Rare scleral disorder MONDO:8000033|MONDO:0035037|MONDO:0035001 MONDO:0957048 isolated macular dystrophy Orphanet:519302 MONDO:equivalentTo Isolated macular dystrophy MONDO:8000033 -MONDO:0957049 rare choroidal disorder Orphanet:519309 MONDO:equivalentTo Rare choroidal disorder MONDO:8000033 -MONDO:0957051 rare retinal disorder Orphanet:519315 MONDO:equivalentTo Rare retinal disorder MONDO:8000033 -MONDO:0957056 rare optic nerve disorder Orphanet:519351 MONDO:equivalentTo Rare optic nerve disorder MONDO:8000033|MONDO:0034965 -MONDO:0957067 rare genetic disorder of the ocular adnexa Orphanet:522524 MONDO:equivalentTo Rare genetic disorder of the ocular adnexa MONDO:8000033|MONDO:0035037 -MONDO:0957073 anterior segment developmental anomaly of genetic origin Orphanet:522540 MONDO:equivalentTo Anterior segment developmental anomaly of genetic origin MONDO:8000033|MONDO:0026186 -MONDO:0957074 rare genetic disorder with conjunctival involvement as a major feature Orphanet:522542 MONDO:equivalentTo Rare genetic disorder with conjunctival involvement as a major feature MONDO:8000033 -MONDO:0957080 rare genetic corneal disorder Orphanet:522556 MONDO:equivalentTo Rare genetic corneal disorder MONDO:8000033 -MONDO:0957086 rare genetic disorder of the pupil Orphanet:522568 MONDO:equivalentTo Rare genetic disorder of the pupil MONDO:8000033 -MONDO:0957087 rare genetic retinal disorder Orphanet:522572 MONDO:equivalentTo Rare genetic retinal disorder MONDO:8000033 -MONDO:0957090 rare genetic choroidal disorder Orphanet:522584 MONDO:equivalentTo Rare genetic choroidal disorder MONDO:8000033 -MONDO:0957091 pediatric-onset glaucoma Orphanet:523000 MONDO:equivalentTo Pediatric-onset glaucoma MONDO:8000033 -MONDO:0957092 prediction of resistance to colchicine Orphanet:529825 MONDO:equivalentTo Prediction of resistance to colchicine MONDO:8000034|MONDO:0032014 -MONDO:0957093 prediction of enzalutamide toxicity Orphanet:529828 MONDO:equivalentTo Prediction of enzalutamide toxicity MONDO:8000034|MONDO:0032014 -MONDO:0957094 selection of therapeutic option in melanoma Orphanet:544260 MONDO:equivalentTo Selection of therapeutic option in melanoma MONDO:8000034|MONDO:0032014 -MONDO:0957095 prediction of response to monoclonal antibody treatment Orphanet:562522 MONDO:equivalentTo Prediction of response to monoclonal antibody treatment MONDO:8000034|MONDO:0032014 -MONDO:0957096 methotrexate dose selection Orphanet:565785 MONDO:equivalentTo Methotrexate dose selection MONDO:8000034|MONDO:0032014 MONDO:0957097 genetic hemolytic uremic syndrome Orphanet:576742 MONDO:equivalentTo Genetic hemolytic uremic syndrome MONDO:8000033|MONDO:0026193|MONDO:0015910 -MONDO:0957098 prediction of toxicity or dose selection of eliglustat Orphanet:596747 MONDO:equivalentTo Prediction of toxicity or dose selection of eliglustat MONDO:8000034|MONDO:0032014 -MONDO:0957099 rare disorder related to monochorionic twin pregnancy Orphanet:617307 MONDO:equivalentTo Rare disorder related to monochorionic twin pregnancy MONDO:8000033|MONDO:0015582 -MONDO:0957102 prediction of sensitivity to immunosuppressive drugs in myelodysplasia Orphanet:618569 MONDO:equivalentTo Prediction of sensitivity to immunosuppressive drugs in myelodysplasia MONDO:8000034|MONDO:0032014 -MONDO:0957103 selection of therapeutic option in ovarian cancer Orphanet:618572 MONDO:equivalentTo Selection of therapeutic option in ovarian cancer MONDO:8000034|MONDO:0032014 -MONDO:0957104 selection of immunotherapy in solid cancer Orphanet:619246 MONDO:equivalentTo Selection of immunotherapy in solid cancer MONDO:8000034|MONDO:0032014 -MONDO:0957105 rare hereditary connective tissue disease Orphanet:619249 MONDO:equivalentTo Rare hereditary connective tissue disease MONDO:8000033|MONDO:0028795 -MONDO:0957106 prediction of antihistamines toxicity Orphanet:619277 MONDO:equivalentTo Prediction of antihistamines toxicity MONDO:8000034|MONDO:0032014 -MONDO:0957107 genetic autoinflammatory syndrome with skin involvement Orphanet:622720 MONDO:equivalentTo Genetic autoinflammatory syndrome with skin involvement MONDO:0019043|MONDO:8000033 -MONDO:0957108 rare andrological tumor Orphanet:626609 MONDO:equivalentTo Rare andrological tumor MONDO:0020031|MONDO:8000033 -MONDO:0957109 split cord malformation, composite type Orphanet:633076 MONDO:equivalentTo Split cord malformation, composite type MONDO:0035542|MONDO:8000031 -MONDO:0957110 moderate and severe traumatic brain injury Orphanet:90056 MONDO:equivalentTo Moderate and severe traumatic brain injury A rare neurologic condition characterized by brain damage caused by an external mechanical force, with a Glasgow Coma Scale score of 9 to 12 in moderate traumatic brain injury (TBI), or 3 to 8 in severe TBI, respectively. TBI can be closed (with the dura mater remaining intact) or open (with penetration of the dura mater) and may lead to focal damage, such as cerebral contusion and hemorrhage, as well as diffuse axonal injury and secondary damage due to increased intracranial pressure. Signs and symptoms are highly variable, depending on the nature, severity, localization, and extent of the trauma. MONDO:8000034|MONDO:0020009|MONDO:0032014 MONDO:0957111 neurological muscular channelopathy due to a genetic sodium channel defect Orphanet:98738 MONDO:equivalentTo Neurological muscular channelopathy due to a genetic sodium channel defect MONDO:8000033 MONDO:0957112 neurological muscular channelopathy due to a genetic chloride channel defect Orphanet:98739 MONDO:equivalentTo Neurological muscular channelopathy due to a genetic chloride channel defect MONDO:8000033 MONDO:0957113 neurological muscular channelopathy due to a genetic calcium channel defect Orphanet:98740 MONDO:equivalentTo Neurological muscular channelopathy due to a genetic calcium channel defect MONDO:8000033 MONDO:0957114 neurological muscular channelopathy due to a genetic potassium channel defect Orphanet:98741 MONDO:equivalentTo Neurological muscular channelopathy due to a genetic potassium channel defect MONDO:8000033 MONDO:0957115 neurological muscular channelopathy due to a genetic ryanodine receptor defect Orphanet:98742 MONDO:equivalentTo Neurological muscular channelopathy due to a genetic ryanodine receptor defect MONDO:8000033 +MONDO:0957334 genetic syndrome with a dandy-walker malformation as a major feature Orphanet:269570 MONDO:equivalentTo Genetic syndrome with a Dandy-Walker malformation as a major feature MONDO:8000033 +MONDO:0957335 rare disorder with corneal involvement as a major feature Orphanet:519288 MONDO:equivalentTo Rare disorder with corneal involvement as a major feature MONDO:8000033 +MONDO:0957336 rare disorder with pigmented sclera Orphanet:519296 MONDO:equivalentTo Rare disorder with pigmented sclera MONDO:8000033 +MONDO:0957337 isolated chorioretinal dystrophy Orphanet:519300 MONDO:equivalentTo Isolated chorioretinal dystrophy MONDO:8000033 +MONDO:0957338 rare macular disorder Orphanet:519313 MONDO:equivalentTo Rare macular disorder MONDO:8000033 +MONDO:0957339 rare retinal vasculopathy Orphanet:519317 MONDO:equivalentTo Rare retinal vasculopathy MONDO:8000033 +MONDO:0957340 syndromic chorioretinal dystrophy Orphanet:519321 MONDO:equivalentTo Syndromic chorioretinal dystrophy MONDO:8000033 +MONDO:0957341 secondary early-onset glaucoma Orphanet:519331 MONDO:equivalentTo Secondary early-onset glaucoma MONDO:8000033 +MONDO:0957342 rare genetic palpebral disorder Orphanet:522526 MONDO:equivalentTo Rare genetic palpebral disorder MONDO:8000033|MONDO:0026186 +MONDO:0957343 rare genetic disorder of the lacrimal apparatus Orphanet:522532 MONDO:equivalentTo Rare genetic disorder of the lacrimal apparatus MONDO:8000033 +MONDO:0957344 rare genetic disorder with lens opacification Orphanet:522546 MONDO:equivalentTo Rare genetic disorder with lens opacification MONDO:8000033 +MONDO:0957345 lens size anomaly of genetic origin Orphanet:522550 MONDO:equivalentTo Lens size anomaly of genetic origin MONDO:8000033|MONDO:0026186 +MONDO:0957346 lens position anomaly of genetic origin Orphanet:522552 MONDO:equivalentTo Lens position anomaly of genetic origin MONDO:8000033|MONDO:0026186 +MONDO:0957347 rare genetic disorder with corneal involvement as a major feature Orphanet:522558 MONDO:equivalentTo Rare genetic disorder with corneal involvement as a major feature MONDO:8000033 +MONDO:0957348 rare genetic macular disorder Orphanet:522574 MONDO:equivalentTo Rare genetic macular disorder MONDO:8000033 +MONDO:0957349 rare genetic retinal vasculopathy Orphanet:522576 MONDO:equivalentTo Rare genetic retinal vasculopathy MONDO:8000033 +MONDO:0957350 rare disorder due to unbalanced inter-twin blood transfusion Orphanet:617310 MONDO:equivalentTo Rare disorder due to unbalanced inter-twin blood transfusion MONDO:8000033 +MONDO:0957351 rare disorder due to inadequate sharing of the placenta Orphanet:617313 MONDO:equivalentTo Rare disorder due to inadequate sharing of the placenta MONDO:8000033