From 52ca8e84fba4c53b337ecc8fe0d7ec1d155ac14d Mon Sep 17 00:00:00 2001 From: Trish Whetzel Date: Mon, 9 Sep 2024 12:13:54 -0700 Subject: [PATCH] Build - Sep 2024 files (#651) --- docs/metrics/doid.md | 22 +- docs/metrics/gard.md | 2 +- docs/metrics/icd10cm.md | 2 +- docs/metrics/icd10who.md | 2 +- docs/metrics/icd11foundation.md | 2 +- docs/metrics/ncit.md | 2 +- docs/metrics/omim.md | 20 +- docs/metrics/ordo.md | 2 +- docs/reports/mapped_deprecated.md | 4 +- docs/reports/mapped_deprecated_doid.md | 9 +- docs/reports/mapped_deprecated_omim.md | 2 - docs/reports/migrate.md | 6 +- docs/reports/migrate_doid.md | 106 +- docs/reports/migrate_omim.md | 13 +- docs/reports/migrate_ordo.md | 112 +- docs/reports/unmapped.md | 6 +- docs/reports/unmapped_doid.md | 105 +- docs/reports/unmapped_omim.md | 11 +- docs/reports/unmapped_ordo.md | 72 - src/mappings/doid.sssom.tsv | 107 +- src/mappings/gard.sssom.tsv | 2 +- src/mappings/icd10cm.sssom.tsv | 2 +- src/mappings/icd10who.sssom.tsv | 2 +- src/mappings/icd11foundation.sssom.tsv | 2 +- src/mappings/mondo-nando.sssom.tsv | 2 +- src/mappings/ncit.sssom.tsv | 2 +- src/mappings/omim.sssom.tsv | 195 +- .../external/mondo-omim-genes.robot.owl | 105042 +++++++-------- .../external/mondo-omim-genes.robot.tsv | 6548 +- .../external/nando-mappings.robot.owl | 2 +- src/ontology/external/nord.robot.owl | 200 +- src/ontology/external/nord.robot.tsv | 11 +- src/ontology/external/ordo-subsets.robot.owl | 1122 +- src/ontology/external/ordo-subsets.robot.tsv | 82 +- src/ontology/imports/omo_import.owl | 4 +- src/ontology/imports/ro_import.owl | 4 +- src/ontology/lexmatch/README.md | 59 +- src/ontology/lexmatch/all_exact.robot.tsv | 49 +- .../mondo-only/unmapped_omim_mondo.tsv | 2 - .../mondo-only/unmapped_ordo_mondo.tsv | 1 - .../mondo_broadmatch_orphanet.tsv | 3 - .../mondo_closematch_doid.tsv | 384 +- .../mondo_closematch_icd10cm.tsv | 9 +- .../mondo_closematch_icd11.foundation.tsv | 8 +- .../mondo_closematch_orphanet.tsv | 94 - .../mondo_exactmatch_doid.tsv | 80 +- .../mondo_exactmatch_icd10cm.tsv | 5 +- .../mondo_exactmatch_icd10who.tsv | 2 - .../mondo_exactmatch_icd11.foundation.tsv | 22 +- .../mondo_exactmatch_ncit.tsv | 2 + .../mondo_exactmatch_omim.tsv | 2 - .../mondo_exactmatch_orphanet.tsv | 1737 +- .../mondo_narrowmatch_icd10cm.tsv | 1 + src/ontology/lexmatch/unmapped_doid_lex.tsv | 40 +- .../lexmatch/unmapped_doid_lex_exact.tsv | 40 +- .../lexmatch/unmapped_icd10cm_lex.tsv | 5 +- .../lexmatch/unmapped_icd10who_lex.tsv | 2 - .../lexmatch/unmapped_icd11foundation_lex.tsv | 15 +- .../unmapped_icd11foundation_lex_exact.tsv | 7 + .../lexmatch/unmapped_ncit_lex_exact.tsv | 2 + src/ontology/lexmatch/unmapped_ordo_lex.tsv | 2 - src/ontology/metadata/doid-metrics.json | 90 +- src/ontology/metadata/gard-metrics.json | 2 +- src/ontology/metadata/icd10cm-metrics.json | 2 +- src/ontology/metadata/icd10who-metrics.json | 2 +- .../metadata/icd11foundation-metrics.json | 2 +- src/ontology/metadata/ncit-metrics.json | 2 +- src/ontology/metadata/omim-metrics.json | 86 +- src/ontology/metadata/ordo-metrics.json | 2 +- .../reports/component_signature-doid.tsv | 60 +- .../reports/component_signature-omim.tsv | 3424 +- .../doid.subclass.added-obsolete.robot.tsv | 1 + .../reports/doid.subclass.added.robot.tsv | 41 +- .../reports/doid.subclass.confirmed.robot.tsv | 42 +- .../doid_excluded_terms_in_mondo_xrefs.tsv | 3 + ..._excluded_terms_in_mondo_xrefs_summary.tsv | 2 +- .../doid_exclusion_reasons.robot.template.tsv | 4 + ...mapped_deprecated_terms.robot.template.tsv | 3 + src/ontology/reports/doid_mapping_status.tsv | 112 +- src/ontology/reports/doid_term_exclusions.txt | 4 + src/ontology/reports/doid_unmapped_terms.tsv | 69 +- ...d11foundation.subclass.confirmed.robot.tsv | 4 +- .../reports/mirror_signature-doid.tsv | 89 +- .../reports/mirror_signature-mondo.tsv | 247 + .../reports/mirror_signature-omim.tsv | 3441 +- .../reports/ncit.subclass.confirmed.robot.tsv | 4 +- .../reports/omim.subclass.added.robot.tsv | 10 +- .../reports/omim.subclass.confirmed.robot.tsv | 16 +- .../omim_exclusion_reasons.robot.template.tsv | 75 +- ...mapped_deprecated_terms.robot.template.tsv | 2 - src/ontology/reports/omim_mapping_status.tsv | 78 +- src/ontology/reports/omim_term_exclusions.txt | 23 + src/ontology/reports/omim_unmapped_terms.tsv | 5 + .../ordo.subclass.added-obsolete.robot.tsv | 116 +- .../reports/ordo.subclass.added.robot.tsv | 52 +- .../reports/ordo.subclass.confirmed.robot.tsv | 44 +- src/ontology/reports/ordo_mapping_status.tsv | 144 +- src/ontology/reports/ordo_unmapped_terms.tsv | 72 - .../reports/sync-subClassOf.confirmed.tsv | 110 +- .../sync-subClassOf.direct-in-mondo-only.tsv | 304 +- src/ontology/slurp/doid.tsv | 68 +- src/ontology/slurp/omim.tsv | 5 + src/ontology/slurp/ordo.tsv | 80 +- src/ontology/unmapped/doid-unmapped.owl | 168 +- src/ontology/unmapped/omim-unmapped.owl | 44650 +++++- 105 files changed, 111632 insertions(+), 58530 deletions(-) delete mode 100644 src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_orphanet.tsv diff --git a/docs/metrics/doid.md b/docs/metrics/doid.md index fce94185f..2af24ff34 100644 --- a/docs/metrics/doid.md +++ b/docs/metrics/doid.md @@ -2,16 +2,16 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/doid.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-08-13/doid.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-09-06/doid.owl ### Entities and axioms | Metric | Value | | ------ | ----- | | Annotation properties | 27 | -| Axioms | 129102 | -| Logical axioms | 16223 | -| Classes | 13160 | +| Axioms | 129444 | +| Logical axioms | 16297 | +| Classes | 13204 | | Object properties | 0 | | Data properties | 0 | | Individuals | 0 | @@ -32,11 +32,11 @@ | Metric | Value | | ------ | ----- | -| AnnotationAssertion | 99692 | +| AnnotationAssertion | 99916 | | SubAnnotationPropertyOf | 1 | | DisjointClasses | 26 | -| Declaration | 13186 | -| SubClassOf | 16197 | +| Declaration | 13230 | +| SubClassOf | 16271 | #### Entity namespaces: axiom counts by namespace @@ -45,8 +45,8 @@ | ------ | ----- | | oboInOwl | 12 | | owl | 2 | -| DOID | 11614 | -| HP | 118 | +| DOID | 11646 | +| HP | 114 | | xsd | 1 | | CL | 62 | | skos | 5 | @@ -59,7 +59,7 @@ | rdf | 1 | | CHEBI | 90 | | IAO | 2 | -| UBERON | 394 | +| UBERON | 410 | | SO | 17 | | obo | 191 | | GENO | 10 | @@ -70,7 +70,7 @@ | Metric | Value | | ------ | ----- | -| Class | 45766 | +| Class | 45958 | More information about the source can be found [in the documentation](../sources.md). The raw data (ontology metrics) can be found [on GitHub](https://github.com/monarch-initiative/mondo-ingest/tree/main/src/ontology/metadata). diff --git a/docs/metrics/gard.md b/docs/metrics/gard.md index d50a5b0ba..755d82666 100644 --- a/docs/metrics/gard.md +++ b/docs/metrics/gard.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/gard.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-08-13/gard.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-09-06/gard.owl ### Entities and axioms diff --git a/docs/metrics/icd10cm.md b/docs/metrics/icd10cm.md index f6b89a424..bac13d0cc 100644 --- a/docs/metrics/icd10cm.md +++ b/docs/metrics/icd10cm.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/icd10cm.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-08-13/icd10cm.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-09-06/icd10cm.owl ### Entities and axioms diff --git a/docs/metrics/icd10who.md b/docs/metrics/icd10who.md index c7fac54b0..375caf4ab 100644 --- a/docs/metrics/icd10who.md +++ b/docs/metrics/icd10who.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/icd10who.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-08-13/icd10who.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-09-06/icd10who.owl ### Entities and axioms diff --git a/docs/metrics/icd11foundation.md b/docs/metrics/icd11foundation.md index b68d53c93..e00ae9b78 100644 --- a/docs/metrics/icd11foundation.md +++ b/docs/metrics/icd11foundation.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/icd11foundation.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-08-13/icd11foundation.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-09-06/icd11foundation.owl ### Entities and axioms diff --git a/docs/metrics/ncit.md b/docs/metrics/ncit.md index da27903bd..af717b037 100644 --- a/docs/metrics/ncit.md +++ b/docs/metrics/ncit.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/ncit.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-08-13/ncit.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-09-06/ncit.owl ### Entities and axioms diff --git a/docs/metrics/omim.md b/docs/metrics/omim.md index 271bf8519..9f9835ffc 100644 --- a/docs/metrics/omim.md +++ b/docs/metrics/omim.md @@ -2,16 +2,16 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/omim.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-08-13/omim.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-09-06/omim.owl ### Entities and axioms | Metric | Value | | ------ | ----- | | Annotation properties | 19 | -| Axioms | 347317 | -| Logical axioms | 22779 | -| Classes | 19534 | +| Axioms | 354395 | +| Logical axioms | 26211 | +| Classes | 22954 | | Object properties | 7 | | Data properties | 0 | | Individuals | 0 | @@ -32,17 +32,17 @@ | Metric | Value | | ------ | ----- | -| AnnotationAssertion | 304981 | +| AnnotationAssertion | 305207 | | SubAnnotationPropertyOf | 1 | -| Declaration | 19556 | -| SubClassOf | 22779 | +| Declaration | 22976 | +| SubClassOf | 26211 | #### Entity namespaces: axiom counts by namespace | Metric | Value | | ------ | ----- | -| prefix_unknown | 18092 | +| prefix_unknown | 21512 | | oboInOwl | 4 | | owl | 2 | | xsd | 1 | @@ -61,8 +61,8 @@ | Metric | Value | | ------ | ----- | -| Class | 65082 | -| ObjectSomeValuesFrom | 17831 | +| Class | 75366 | +| ObjectSomeValuesFrom | 21258 | More information about the source can be found [in the documentation](../sources.md). The raw data (ontology metrics) can be found [on GitHub](https://github.com/monarch-initiative/mondo-ingest/tree/main/src/ontology/metadata). diff --git a/docs/metrics/ordo.md b/docs/metrics/ordo.md index ab414780d..19a40f2d7 100644 --- a/docs/metrics/ordo.md +++ b/docs/metrics/ordo.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/ordo.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-08-13/ordo.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-09-06/ordo.owl ### Entities and axioms diff --git a/docs/reports/mapped_deprecated.md b/docs/reports/mapped_deprecated.md index f22bf5561..1071ae85f 100644 --- a/docs/reports/mapped_deprecated.md +++ b/docs/reports/mapped_deprecated.md @@ -2,12 +2,12 @@ | Ontology | Tot deprecated in Mondo | |:----------------------------------------------------------|--------------------------:| | [NCIT](./mapped_deprecated_ncit.md) | 5 | -| [OMIM](./mapped_deprecated_omim.md) | 44 | +| [OMIM](./mapped_deprecated_omim.md) | 42 | +| [DOID](./mapped_deprecated_doid.md) | 3 | | [ORDO](./mapped_deprecated_ordo.md) | 167 | | [GARD](./mapped_deprecated_gard.md) | 0 | | [ICD11FOUNDATION](./mapped_deprecated_icd11foundation.md) | 0 | | [ICD10CM](./mapped_deprecated_icd10cm.md) | 0 | -| [DOID](./mapped_deprecated_doid.md) | 0 | | [ICD10WHO](./mapped_deprecated_icd10who.md) | 0 | `Ontology`: Name of ontology diff --git a/docs/reports/mapped_deprecated_doid.md b/docs/reports/mapped_deprecated_doid.md index d37935d6f..04662edeb 100644 --- a/docs/reports/mapped_deprecated_doid.md +++ b/docs/reports/mapped_deprecated_doid.md @@ -2,6 +2,9 @@ [Interactive FlatGithub table](https://flatgithub.com/monarch-initiative/mondo-ingest?filename=src/ontology/reports/doid_mapped_deprecated_terms.robot.template.tsv) ### Mapped deprecated terms -| mondo_id | source_id | source | -|:-----------|:---------------------|:-------------------| -| ID | A oboInOwl:hasDbXref | >A oboInOwl:source | \ No newline at end of file +| mondo_id | source_id | source | +|:--------------|:---------------------|:-------------------------| +| ID | A oboInOwl:hasDbXref | >A oboInOwl:source | +| MONDO:0010542 | DOID:0081164 | MONDO:equivalentObsolete | +| MONDO:0011893 | DOID:0110578 | MONDO:equivalentObsolete | +| MONDO:0015701 | DOID:0060015 | MONDO:equivalentObsolete | \ No newline at end of file diff --git a/docs/reports/mapped_deprecated_omim.md b/docs/reports/mapped_deprecated_omim.md index 9dab9d631..c49e9812a 100644 --- a/docs/reports/mapped_deprecated_omim.md +++ b/docs/reports/mapped_deprecated_omim.md @@ -16,7 +16,6 @@ | MONDO:0008126 | OMIM:164891 | MONDO:equivalentObsolete | | MONDO:0008204 | OMIM:168850 | MONDO:equivalentObsolete | | MONDO:0008415 | OMIM:181515 | MONDO:equivalentObsolete | -| MONDO:0009489 | OMIM:244850 | MONDO:equivalentObsolete | | MONDO:0009535 | OMIM:247440 | MONDO:equivalentObsolete | | MONDO:0009654 | OMIM:252700 | MONDO:equivalentObsolete | | MONDO:0010045 | OMIM:270710 | MONDO:equivalentObsolete | @@ -33,7 +32,6 @@ | MONDO:0010859 | OMIM:600309 | MONDO:equivalentObsolete | | MONDO:0011111 | OMIM:601563 | MONDO:equivalentObsolete | | MONDO:0011543 | OMIM:605365 | MONDO:equivalentObsolete | -| MONDO:0011893 | OMIM:607683 | MONDO:equivalentObsolete | | MONDO:0011910 | OMIM:607801 | MONDO:equivalentObsolete | | MONDO:0012461 | OMIM:610269 | MONDO:equivalentObsolete | | MONDO:0012560 | OMIM:610799 | MONDO:equivalentObsolete | diff --git a/docs/reports/migrate.md b/docs/reports/migrate.md index 236ccd19a..1bb6831d9 100644 --- a/docs/reports/migrate.md +++ b/docs/reports/migrate.md @@ -2,13 +2,13 @@ | Ontology | Tot | |:------------------------------------------------|:------| | [GARD](./migrate_gard.md) | 9,370 | -| [ORDO](./migrate_ordo.md) | 84 | -| [DOID](./migrate_doid.md) | 47 | +| [OMIM](./migrate_omim.md) | 6 | +| [DOID](./migrate_doid.md) | 53 | | [ICD11FOUNDATION](./migrate_icd11foundation.md) | 4,594 | +| [ORDO](./migrate_ordo.md) | 22 | | [NCIT](./migrate_ncit.md) | 2,209 | | [ICD10WHO](./migrate_icd10who.md) | 119 | | [ICD10CM](./migrate_icd10cm.md) | 1,892 | -| [OMIM](./migrate_omim.md) | 1 | ### Codebook `Ontology`: Name of ontology diff --git a/docs/reports/migrate_doid.md b/docs/reports/migrate_doid.md index a422be034..8682e9fb5 100644 --- a/docs/reports/migrate_doid.md +++ b/docs/reports/migrate_doid.md @@ -2,53 +2,59 @@ [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:0958281 | mitochondrial complex v (atp synthase) deficiency nuclear type 4 | DOID:0060333 | MONDO:equivalentTo | mitochondrial complex V (ATP synthase) deficiency nuclear type 4 | | MONDO:0014471 | -| MONDO:0958318 | chronic inflammatory demyelinating polyneuritis | DOID:2536 | MONDO:equivalentTo | chronic inflammatory demyelinating polyneuritis | | MONDO:0002336 | -| MONDO:0958319 | congenital kyphosis | DOID:4668 | MONDO:equivalentTo | congenital kyphosis | | | -| MONDO:0958320 | postural kyphosis | DOID:9373 | MONDO:equivalentTo | postural kyphosis | | | -| MONDO:0958359 | childhood spinal muscular atrophy | DOID:0060160 | MONDO:equivalentTo | childhood spinal muscular atrophy | | MONDO:0001516 | -| MONDO:0958360 | cholesterol-ester transfer protein deficiency | DOID:0111368 | MONDO:equivalentTo | cholesterol-ester transfer protein deficiency | | MONDO:0002525 | -| MONDO:0968993 | aleutian mink disease | DOID:2934 | MONDO:equivalentTo | aleutian mink disease | | MONDO:0005108 | -| MONDO:0968994 | borna disease | DOID:5154 | MONDO:equivalentTo | borna disease | | MONDO:0005108|MONDO:0002602 | -| MONDO:0970991 | papilledema | DOID:146 | MONDO:equivalentTo | papilledema | | MONDO:0002135 | -| MONDO:0970996 | interstitial lung disease 2 | DOID:0060971 | MONDO:equivalentTo | interstitial lung disease 2 | | MONDO:0015925|MONDO:0000426 | -| MONDO:0970997 | renal hypomagnesemia 7, with or without dilated cardiomyopathy | DOID:0060972 | MONDO:equivalentTo | renal hypomagnesemia 7, with or without dilated cardiomyopathy | | MONDO:0018100|MONDO:0000426 | -| MONDO:0971003 | whim syndrome 2 | DOID:0060973 | MONDO:equivalentTo | WHIM syndrome 2 | | MONDO:0003778|MONDO:0006025 | -| MONDO:0971017 | autosomal recessive robinow syndrome 2 | DOID:0060974 | MONDO:equivalentTo | autosomal recessive Robinow syndrome 2 | | MONDO:0019978|MONDO:0006025 | -| MONDO:0971018 | polycystic liver disease 2 | DOID:0060975 | MONDO:equivalentTo | polycystic liver disease 2 | | MONDO:0000447 | -| MONDO:0971019 | polycystic liver disease 3 with or without kidney cysts | DOID:0060976 | MONDO:equivalentTo | polycystic liver disease 3 with or without kidney cysts | | MONDO:0000447 | -| MONDO:0971020 | polycystic liver disease 4 with or without kidney cysts | DOID:0060977 | MONDO:equivalentTo | polycystic liver disease 4 with or without kidney cysts | | MONDO:0000447 | -| MONDO:0971021 | primary pigmented nodular adrenocortical disease 1 | DOID:0070546 | MONDO:equivalentTo | primary pigmented nodular adrenocortical disease 1 | | MONDO:0000426|MONDO:0015999 | -| MONDO:0971022 | primary pigmented nodular adrenocortical disease 2 | DOID:0070547 | MONDO:equivalentTo | primary pigmented nodular adrenocortical disease 2 | | MONDO:0000426|MONDO:0015999 | -| MONDO:0971023 | primary pigmented nodular adrenocortical disease 3 | DOID:0070548 | MONDO:equivalentTo | primary pigmented nodular adrenocortical disease 3 | | MONDO:0015999 | -| MONDO:0971024 | primary pigmented nodular adrenocortical disease 4 | DOID:0070549 | MONDO:equivalentTo | primary pigmented nodular adrenocortical disease 4 | | MONDO:0015999|MONDO:0000426 | -| MONDO:0971025 | krt1-related nonepidermolytic palmoplantar keratoderma | DOID:0070550 | MONDO:equivalentTo | KRT1-related nonepidermolytic palmoplantar keratoderma | | MONDO:0010962 | -| MONDO:0971026 | epidermolytic palmoplantar keratoderma 2 | DOID:0070551 | MONDO:equivalentTo | epidermolytic palmoplantar keratoderma 2 | | MONDO:0007758|MONDO:0000426 | -| MONDO:0971027 | epidermolytic palmoplantar keratoderma 1 | DOID:0070552 | MONDO:equivalentTo | epidermolytic palmoplantar keratoderma 1 | | MONDO:0007758|MONDO:0000426 | -| MONDO:0971028 | focal palmoplantar and gingival keratosis | DOID:0070553 | MONDO:equivalentTo | focal palmoplantar and gingival keratosis | | MONDO:0006590 | -| MONDO:0971029 | palmoplantar keratoderma and woolly hair | DOID:0070554 | MONDO:equivalentTo | palmoplantar keratoderma and woolly hair | | MONDO:0010962|MONDO:0006025 | -| MONDO:0971030 | nagashima-type palmoplantar keratosis | DOID:0070555 | MONDO:equivalentTo | Nagashima-type palmoplantar keratosis | | MONDO:0010962|MONDO:0006025 | -| MONDO:0971031 | auto-brewery syndrome | DOID:0081455 | MONDO:equivalentTo | auto-brewery syndrome | An acquired metabolic disease that is characterized by the endogenous production of ethanol produced through endogenous fermentation by fungi or bacteria in the gastrointestinal system, oral cavity, or urinary system and typically presents with the signs of alcohol intoxication. | MONDO:0006504 | -| MONDO:0971032 | bladder fermentation syndrome | DOID:0081456 | MONDO:equivalentTo | bladder fermentation syndrome | An acquired metabolic disease that is characterized by ethanol fermentation in the bladder and the absence of alcoholic intoxication. | MONDO:0006504 | -| MONDO:0971033 | intrathyroid thymic carcinoma | DOID:0081457 | MONDO:equivalentTo | intrathyroid thymic carcinoma | A thyroid gland carcinoma composed of groups of carcinoma cells with thymic epithelial differentiation. | MONDO:0015075 | -| MONDO:0971034 | thyroid gland cribriform morular carcinoma | DOID:0081458 | MONDO:equivalentTo | thyroid gland cribriform morular carcinoma | A thyroid gland carcinoma that is characterized by the presence of cribriform, trabecular, follicular, papillary, and solid growth patterns and squamoid morulae formation. | MONDO:0015075 | -| MONDO:0971035 | thyroid gland mixed medullary and follicular cell-derived carcinoma | DOID:0081459 | MONDO:equivalentTo | thyroid gland mixed medullary and follicular cell-derived carcinoma | A thyroid gland carcinoma containing a medullary carcinoma component that is immunohistochemically positive for calcitonin, and follicular cell-derived carcinoma component that is immunohistochemically positive for thyroglobulin. | MONDO:0015075 | -| MONDO:0971036 | thyroid gland mucinous carcinoma | DOID:0081460 | MONDO:equivalentTo | thyroid gland mucinous carcinoma | A thyroid gland carcinoma that is characterized by the presence of clusters of malignant epithelial cells associated with abundant extracellular mucin deposition. | MONDO:0015075 | -| MONDO:0971037 | thyroid gland spindle epithelial tumor with thymus-like elements | DOID:0081461 | MONDO:equivalentTo | thyroid gland spindle epithelial tumor with thymus-like elements | A thyroid gland carcinoma that is characterized by a lobulated architectural pattern and the presence of a biphasic cellular population composed of spindle epithelial cells and glandular cells. | MONDO:0015075 | -| MONDO:0971156 | fanconi anemia complementation group w | DOID:0060978 | MONDO:equivalentTo | Fanconi anemia complementation group W | | MONDO:0019391|MONDO:0006025 | -| MONDO:0971157 | fanconi anemia complementation group s | DOID:0060979 | MONDO:equivalentTo | Fanconi anemia complementation group S | | MONDO:0019391|MONDO:0006025 | -| MONDO:0971158 | polycystic liver disease 1 | DOID:0060980 | MONDO:equivalentTo | polycystic liver disease 1 | | MONDO:0000447 | -| MONDO:0971159 | mosaic variegated aneuploidy syndrome 4 | DOID:0060981 | MONDO:equivalentTo | mosaic variegated aneuploidy syndrome 4 | | MONDO:0000141|MONDO:0006025 | -| MONDO:0971160 | mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition | DOID:0060982 | MONDO:equivalentTo | mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition | | MONDO:0000141 | -| MONDO:0971161 | sitosterolemia 2 | DOID:0060983 | MONDO:equivalentTo | sitosterolemia 2 | | MONDO:0005020|MONDO:0006025 | -| MONDO:0971162 | cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 | DOID:0070556 | MONDO:equivalentTo | cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 | | MONDO:0009133 | -| MONDO:0971163 | cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 | DOID:0070557 | MONDO:equivalentTo | cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 | | MONDO:0009133 | -| MONDO:0971164 | cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 | DOID:0070558 | MONDO:equivalentTo | cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 | | MONDO:0009133 | -| MONDO:0971165 | cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 | DOID:0070559 | MONDO:equivalentTo | cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 | | MONDO:0009133 | -| MONDO:0971166 | glucose transporter type 1 deficiency syndrome | DOID:0070560 | MONDO:equivalentTo | glucose transporter type 1 deficiency syndrome | | MONDO:0000429|MONDO:0002908 | -| MONDO:0971167 | fanconi-bickel syndrome | DOID:0070562 | MONDO:equivalentTo | Fanconi-Bickel syndrome | | MONDO:0006025|MONDO:0002908 | -| MONDO:0971168 | glucose-galactose malabsorption | DOID:0070563 | MONDO:equivalentTo | glucose-galactose malabsorption | | MONDO:0002908|MONDO:0006025 | -| MONDO:0971183 | autosomal recessive pseudohypoaldosteronism type 1 | DOID:0060854 | MONDO:equivalentTo | autosomal recessive pseudohypoaldosteronism type 1 | | MONDO:0018638|MONDO:0006025 | \ 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:0958281 | mitochondrial complex v (atp synthase) deficiency nuclear type 4 | DOID:0060333 | MONDO:equivalentTo | mitochondrial complex V (ATP synthase) deficiency nuclear type 4 | | MONDO:0014471 | +| MONDO:0958318 | chronic inflammatory demyelinating polyneuritis | DOID:2536 | MONDO:equivalentTo | chronic inflammatory demyelinating polyneuritis | | MONDO:0002336 | +| MONDO:0958319 | congenital kyphosis | DOID:4668 | MONDO:equivalentTo | congenital kyphosis | | | +| MONDO:0958320 | postural kyphosis | DOID:9373 | MONDO:equivalentTo | postural kyphosis | | | +| MONDO:0958359 | childhood spinal muscular atrophy | DOID:0060160 | MONDO:equivalentTo | childhood spinal muscular atrophy | | MONDO:0001516 | +| MONDO:0958360 | cholesterol-ester transfer protein deficiency | DOID:0111368 | MONDO:equivalentTo | cholesterol-ester transfer protein deficiency | | MONDO:0002525 | +| MONDO:0968993 | aleutian mink disease | DOID:2934 | MONDO:equivalentTo | aleutian mink disease | | MONDO:0005108 | +| MONDO:0968994 | borna disease | DOID:5154 | MONDO:equivalentTo | borna disease | | MONDO:0005108|MONDO:0002602 | +| MONDO:0970991 | papilledema | DOID:146 | MONDO:equivalentTo | papilledema | | MONDO:0002135 | +| MONDO:0971031 | auto-brewery syndrome | DOID:0081455 | MONDO:equivalentTo | auto-brewery syndrome | An acquired metabolic disease that is characterized by the endogenous production of ethanol produced through endogenous fermentation by fungi or bacteria in the gastrointestinal system, oral cavity, or urinary system and typically presents with the signs of alcohol intoxication. | MONDO:0006504 | +| MONDO:0971032 | bladder fermentation syndrome | DOID:0081456 | MONDO:equivalentTo | bladder fermentation syndrome | An acquired metabolic disease that is characterized by ethanol fermentation in the bladder and the absence of alcoholic intoxication. | MONDO:0006504 | +| MONDO:0971033 | intrathyroid thymic carcinoma | DOID:0081457 | MONDO:equivalentTo | intrathyroid thymic carcinoma | A thyroid gland carcinoma composed of groups of carcinoma cells with thymic epithelial differentiation. | MONDO:0015075 | +| MONDO:0971034 | thyroid gland cribriform morular carcinoma | DOID:0081458 | MONDO:equivalentTo | thyroid gland cribriform morular carcinoma | A thyroid gland carcinoma that is characterized by the presence of cribriform, trabecular, follicular, papillary, and solid growth patterns and squamoid morulae formation. | MONDO:0015075 | +| MONDO:0971035 | thyroid gland mixed medullary and follicular cell-derived carcinoma | DOID:0081459 | MONDO:equivalentTo | thyroid gland mixed medullary and follicular cell-derived carcinoma | A thyroid gland carcinoma containing a medullary carcinoma component that is immunohistochemically positive for calcitonin, and follicular cell-derived carcinoma component that is immunohistochemically positive for thyroglobulin. | MONDO:0015075 | +| MONDO:0971036 | thyroid gland mucinous carcinoma | DOID:0081460 | MONDO:equivalentTo | thyroid gland mucinous carcinoma | A thyroid gland carcinoma that is characterized by the presence of clusters of malignant epithelial cells associated with abundant extracellular mucin deposition. | MONDO:0015075 | +| MONDO:0971183 | autosomal recessive pseudohypoaldosteronism type 1 | DOID:0060854 | MONDO:equivalentTo | autosomal recessive pseudohypoaldosteronism type 1 | | MONDO:0018638|MONDO:0006025 | +| MONDO:0975707 | idiopathic pulmonary fibrosis | DOID:0050156 | MONDO:equivalentTo | idiopathic pulmonary fibrosis | A pulmonary fibrosis that is characterized by scarring of the lung characterized by stiffness in the lungs and makes it difficult to breathe. | MONDO:0002771|MONDO:0000426 | +| MONDO:0975708 | dialysis disequilibrium syndrome | DOID:0070564 | MONDO:equivalentTo | dialysis disequilibrium syndrome | | MONDO:0002254 | +| MONDO:0975709 | spermatogenic failure 66 | DOID:0070565 | MONDO:equivalentTo | spermatogenic failure 66 | | MONDO:0015746|MONDO:0006025 | +| MONDO:0975710 | spermatogenic failure 67 | DOID:0070566 | MONDO:equivalentTo | spermatogenic failure 67 | | MONDO:0015746|MONDO:0006025 | +| MONDO:0975711 | spermatogenic failure 68 | DOID:0070567 | MONDO:equivalentTo | spermatogenic failure 68 | | MONDO:0004983|MONDO:0006025 | +| MONDO:0975712 | spermatogenic failure 69 | DOID:0070568 | MONDO:equivalentTo | spermatogenic failure 69 | | MONDO:0004983|MONDO:0006025 | +| MONDO:0975713 | spermatogenic failure 70 | DOID:0070569 | MONDO:equivalentTo | spermatogenic failure 70 | | MONDO:0004983|MONDO:0006025 | +| MONDO:0975714 | spermatogenic failure 71 | DOID:0070570 | MONDO:equivalentTo | spermatogenic failure 71 | | MONDO:0004983|MONDO:0006025 | +| MONDO:0975715 | spermatogenic failure 72 | DOID:0070571 | MONDO:equivalentTo | spermatogenic failure 72 | | MONDO:0004983|MONDO:0006025 | +| MONDO:0975716 | spermatogenic failure 73 | DOID:0070572 | MONDO:equivalentTo | spermatogenic failure 73 | | MONDO:0004983|MONDO:0006025 | +| MONDO:0975717 | spermatogenic failure 74 | DOID:0070573 | MONDO:equivalentTo | spermatogenic failure 74 | | MONDO:0004983|MONDO:0006025 | +| MONDO:0975718 | spermatogenic failure 75 | DOID:0070574 | MONDO:equivalentTo | spermatogenic failure 75 | | MONDO:0004983|MONDO:0006025 | +| MONDO:0975719 | spermatogenic failure 76 | DOID:0070575 | MONDO:equivalentTo | spermatogenic failure 76 | | MONDO:0004983|MONDO:0006025 | +| MONDO:0975720 | spermatogenic failure 77 | DOID:0070576 | MONDO:equivalentTo | spermatogenic failure 77 | | MONDO:0004983|MONDO:0006025 | +| MONDO:0975721 | spermatogenic failure 78 | DOID:0070577 | MONDO:equivalentTo | spermatogenic failure 78 | | MONDO:0004983|MONDO:0006025 | +| MONDO:0975722 | spermatogenic failure 79 | DOID:0070578 | MONDO:equivalentTo | spermatogenic failure 79 | | MONDO:0004983|MONDO:0006025 | +| MONDO:0975723 | spermatogenic failure 80 | DOID:0070579 | MONDO:equivalentTo | spermatogenic failure 80 | | MONDO:0004983|MONDO:0006025 | +| MONDO:0975724 | spermatogenic failure 81 | DOID:0070580 | MONDO:equivalentTo | spermatogenic failure 81 | | MONDO:0004983|MONDO:0006025 | +| MONDO:0975725 | spermatogenic failure 82 | DOID:0070581 | MONDO:equivalentTo | spermatogenic failure 82 | | MONDO:0004983|MONDO:0006025 | +| MONDO:0975726 | spermatogenic failure 83 | DOID:0070582 | MONDO:equivalentTo | spermatogenic failure 83 | | MONDO:0004983|MONDO:0006025 | +| MONDO:0975727 | spermatogenic failure 84 | DOID:0070583 | MONDO:equivalentTo | spermatogenic failure 84 | | MONDO:0004983|MONDO:0006025 | +| MONDO:0975728 | spermatogenic failure 85 | DOID:0070584 | MONDO:equivalentTo | spermatogenic failure 85 | | MONDO:0015746|MONDO:0006025 | +| MONDO:0975729 | spermatogenic failure 86 | DOID:0070585 | MONDO:equivalentTo | spermatogenic failure 86 | | MONDO:0004983|MONDO:0006025 | +| MONDO:0975730 | spermatogenic failure 87 | DOID:0070586 | MONDO:equivalentTo | spermatogenic failure 87 | | MONDO:0004983|MONDO:0006025 | +| MONDO:0975731 | spermatogenic failure 88 | DOID:0070587 | MONDO:equivalentTo | spermatogenic failure 88 | | MONDO:0004983|MONDO:0006025 | +| MONDO:0975732 | spermatogenic failure 89 | DOID:0070588 | MONDO:equivalentTo | spermatogenic failure 89 | | MONDO:0004983|MONDO:0006025 | +| MONDO:0975733 | spermatogenic failure 90 | DOID:0070589 | MONDO:equivalentTo | spermatogenic failure 90 | | MONDO:0004983|MONDO:0006025 | +| MONDO:0975734 | spermatogenic failure 91 | DOID:0070590 | MONDO:equivalentTo | spermatogenic failure 91 | | MONDO:0004983|MONDO:0006025 | +| MONDO:0975735 | spermatogenic failure 92 | DOID:0070591 | MONDO:equivalentTo | spermatogenic failure 92 | | MONDO:0004983|MONDO:0006025 | +| MONDO:0975736 | spermatogenic failure 93 | DOID:0070592 | MONDO:equivalentTo | spermatogenic failure 93 | | MONDO:0004983|MONDO:0006025 | +| MONDO:0975737 | spermatogenic failure 94 | DOID:0070593 | MONDO:equivalentTo | spermatogenic failure 94 | | MONDO:0004983|MONDO:0006025 | +| MONDO:0975738 | spermatogenic failure 95 | DOID:0070594 | MONDO:equivalentTo | spermatogenic failure 95 | | MONDO:0004983|MONDO:0006025 | +| MONDO:0975739 | x-linked spermatogenic failure 4 | DOID:0070595 | MONDO:equivalentTo | X-linked spermatogenic failure 4 | | MONDO:0004983|MONDO:0000425 | +| MONDO:0975740 | x-linked spermatogenic failure 5 | DOID:0070596 | MONDO:equivalentTo | X-linked spermatogenic failure 5 | | MONDO:0004983|MONDO:0000425 | +| MONDO:0975741 | x-linked spermatogenic failure 6 | DOID:0070597 | MONDO:equivalentTo | X-linked spermatogenic failure 6 | | MONDO:0004983|MONDO:0000425 | +| MONDO:0975742 | x-linked spermatogenic failure 7 | DOID:0070598 | MONDO:equivalentTo | X-linked spermatogenic failure 7 | | MONDO:0004983|MONDO:0020605 | +| MONDO:0975743 | x-linked spermatogenic failure 8 | DOID:0070599 | MONDO:equivalentTo | X-linked spermatogenic failure 8 | | MONDO:0004983|MONDO:0000425 | \ No newline at end of file diff --git a/docs/reports/migrate_omim.md b/docs/reports/migrate_omim.md index c6465f880..c7374786a 100644 --- a/docs/reports/migrate_omim.md +++ b/docs/reports/migrate_omim.md @@ -2,7 +2,12 @@ [Interactive FlatGithub table](https://flatgithub.com/monarch-initiative/mondo-ingest?filename=src/ontology/slurp/omim.tsv) ### Migratable terms -| mondo_id | mondo_label | xref | xref_source | original_label | definition | parents | -|:--------------|:--------------------------------------|:---------------------|:---------------------------|:--------------------------------------|:--------------|:----------| -| ID | LABEL | A oboInOwl:hasDbXref | >A oboInOwl:source SPLIT=| | | A IAO:0000115 | SC % | -| MONDO:0975705 | otofacial neurodevelopmental syndrome | OMIM:620910 | MONDO:equivalentTo | otofacial neurodevelopmental syndrome | | | \ 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:0975705 | otofacial neurodevelopmental syndrome | OMIM:620910 | MONDO:equivalentTo | otofacial neurodevelopmental syndrome | | | +| MONDO:0975745 | neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1 | OMIM:620888 | MONDO:equivalentTo | neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1 | | | +| MONDO:0975746 | spastic paraplegia 92, autosomal recessive | OMIM:620911 | MONDO:equivalentTo | spastic paraplegia 92, autosomal recessive | | MONDO:0019064 | +| MONDO:0975747 | spermatogenic failure 95 | OMIM:620917 | MONDO:equivalentTo | spermatogenic failure 95 | | MONDO:0004983 | +| MONDO:0975748 | parkinson disease 26, autosomal dominant, susceptibility to | OMIM:620923 | MONDO:equivalentTo | parkinson disease 26, autosomal dominant, susceptibility to | | MONDO:0005180 | +| MONDO:0975749 | immunodeficiency 125 | OMIM:620926 | MONDO:equivalentTo | immunodeficiency 125 | | MONDO:0021094 | \ No newline at end of file diff --git a/docs/reports/migrate_ordo.md b/docs/reports/migrate_ordo.md index db9922060..56b73bc33 100644 --- a/docs/reports/migrate_ordo.md +++ b/docs/reports/migrate_ordo.md @@ -2,90 +2,28 @@ [Interactive FlatGithub table](https://flatgithub.com/monarch-initiative/mondo-ingest?filename=src/ontology/slurp/ordo.tsv) ### Migratable terms -| mondo_id | mondo_label | xref | xref_source | original_label | definition | parents | subset | -|:--------------|:----------------------------------------------------------------------------------------------------------------------|:---------------------|:---------------------------|:----------------------------------------------------------------------------------------------------------------------|:-------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------|:------------------------------------------------------------------------------------|:----------------------| -| ID | LABEL | A oboInOwl:hasDbXref | >A oboInOwl:source SPLIT=| | | A IAO:0000115 | SC % | | -| MONDO:0971047 | prc-2 complex-related overgrowth spectrum | Orphanet:659387 | MONDO:equivalentTo | PRC-2 complex-related overgrowth spectrum | | MONDO:8000033|MONDO:0800091|MONDO:0015159|MONDO:0035863|MONDO:0019716 | group of disorders | -| MONDO:0971048 | facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome | Orphanet:659609 | MONDO:equivalentTo | Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome | | MONDO:8000034|MONDO:0000001|MONDO:0035863|MONDO:0015159|MONDO:0017120 | disorder | -| MONDO:0971049 | single isolated optic neuritis | Orphanet:659626 | MONDO:equivalentTo | Single isolated optic neuritis | | MONDO:0044688|MONDO:8000031 | subtype of a disorder | -| MONDO:0971050 | relapsing isolated optic neuritis | Orphanet:659634 | MONDO:equivalentTo | Relapsing isolated optic neuritis | | MONDO:8000031|MONDO:0044688 | subtype of a disorder | -| MONDO:0971052 | erythropoietic porphyria | Orphanet:659681 | MONDO:equivalentTo | Erythropoietic porphyria | | MONDO:0019142|MONDO:8000033 | group of disorders | -| MONDO:0971054 | intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome | Orphanet:659702 | MONDO:equivalentTo | Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome | | MONDO:0015329|MONDO:0015159|MONDO:8000034|MONDO:0035863|MONDO:0026187|MONDO:8000032 | disorder | -| MONDO:0971055 | rare yersiniosis | Orphanet:659712 | MONDO:equivalentTo | Rare yersiniosis | | MONDO:8000033|MONDO:0015575 | group of disorders | -| MONDO:0971056 | ocular surface squamous neoplasia | Orphanet:659744 | MONDO:equivalentTo | Ocular surface squamous neoplasia | | MONDO:0000001|MONDO:8000034|MONDO:0015121 | disorder | -| MONDO:0971058 | verruga peruana | Orphanet:659759 | MONDO:equivalentTo | Verruga peruana | A rare bacterial infectious disease characterized by development of endothelial cell-derived, blood-filled tumors on the surface of the skin during the chronic phase of infection with Bartonella bacilliformis. The lesions can persist for months to years and may cause pain and scarring due to ulceration. They are classified as miliary (multiple red papules of <3 mm in diameter), mular (blood-filled nodules), and diffuse (groups of subdermal nodules >5 mm in diameter). Eruptions may be accompanied by fever and malaise, lymphadenopathy, acute bone and joint pains, and headache. Fatality rates during this phase are low. | MONDO:0018984|MONDO:8000031 | subtype of a disorder | -| MONDO:0971060 | multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome | Orphanet:659904 | MONDO:equivalentTo | Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome | | MONDO:8000032|MONDO:8000034|MONDO:0035863|MONDO:0015159 | disorder | -| MONDO:0971062 | sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome | Orphanet:659975 | MONDO:equivalentTo | Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome | | MONDO:0035863|MONDO:0015159|MONDO:8000032|MONDO:0019589|MONDO:8000034 | disorder | -| MONDO:0971063 | developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome | Orphanet:660017 | MONDO:equivalentTo | Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome | | MONDO:0035862|MONDO:8000034|MONDO:0000001|MONDO:0018265 | disorder | -| MONDO:0971064 | orofacial clefting-cardiac anomalies-facial dysmorphism syndrome | Orphanet:660021 | MONDO:equivalentTo | Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome | | MONDO:0035863|MONDO:8000032|MONDO:0015335|MONDO:0015159|MONDO:8000034 | disorder | -| MONDO:0971066 | megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency | Orphanet:661412 | MONDO:equivalentTo | Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency | | MONDO:0018035|MONDO:8000034|MONDO:0020111|MONDO:0000001|MONDO:0017313 | disorder | -| MONDO:0971067 | mbd4-related tumor predisposition syndrome | Orphanet:661526 | MONDO:equivalentTo | MBD4-related tumor predisposition syndrome | | MONDO:8000034|MONDO:0015356|MONDO:0000001 | disorder | -| MONDO:0971068 | phelan-mcdermid syndrome due to 22q13.3 deletion | Orphanet:662169 | MONDO:equivalentTo | Phelan-McDermid syndrome due to 22q13.3 deletion | | MONDO:0022760|MONDO:0011652|MONDO:8000031 | subtype of a disorder | -| MONDO:0971069 | phelan-mcdermid syndrome due to shank3 mutation | Orphanet:662172 | MONDO:equivalentTo | Phelan-McDermid syndrome due to SHANK3 mutation | | MONDO:0011652|MONDO:8000031 | subtype of a disorder | -| MONDO:0971070 | macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome | Orphanet:662175 | MONDO:equivalentTo | Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome | | MONDO:0035863|MONDO:8000032|MONDO:0015159|MONDO:8000034 | disorder | -| MONDO:0971071 | microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome | Orphanet:662179 | MONDO:equivalentTo | Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome | | MONDO:0035863|MONDO:0015159|MONDO:0019589|MONDO:0017119|MONDO:8000032|MONDO:8000034 | disorder | -| MONDO:0971072 | congenital muscular dystrophy-cataract-intellectual disability syndrome | Orphanet:662184 | MONDO:equivalentTo | Congenital muscular dystrophy-cataract-intellectual disability syndrome | | MONDO:0000001|MONDO:0020225|MONDO:0035862|MONDO:0019950|MONDO:8000034 | disorder | -| MONDO:0971073 | neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome | Orphanet:662189 | MONDO:equivalentTo | Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome | | MONDO:8000032|MONDO:8000034|MONDO:0035863|MONDO:0017120|MONDO:0015159 | disorder | -| MONDO:0971074 | neurodevelopmental delay-intellectual disability-skeletal defects syndrome | Orphanet:662198 | MONDO:equivalentTo | Neurodevelopmental delay-intellectual disability-skeletal defects syndrome | | MONDO:8000034|MONDO:8000032|MONDO:0035863|MONDO:0015159 | disorder | -| MONDO:0971076 | mucopolysaccharidosis type 10 | Orphanet:662216 | MONDO:equivalentTo | Mucopolysaccharidosis type 10 | | MONDO:0019058|MONDO:0000001|MONDO:0800088|MONDO:0035862|MONDO:0019249|MONDO:8000034 | disorder | -| MONDO:0971077 | episodic memory defect leukoencephalopathy | Orphanet:662229 | MONDO:equivalentTo | Episodic memory defect leukoencephalopathy | | MONDO:8000034|MONDO:0019046|MONDO:0000001 | disorder | -| MONDO:0971080 | grisel syndrome | Orphanet:662255 | MONDO:equivalentTo | Grisel syndrome | | MONDO:0032013|MONDO:8000034|MONDO:0016434 | disorder | -| MONDO:0971082 | gastric duplication | Orphanet:662376 | MONDO:equivalentTo | Gastric duplication | | MONDO:8000034|MONDO:8000030|MONDO:0015209 | disorder | -| MONDO:0971083 | gallbladder duplication | Orphanet:662388 | MONDO:equivalentTo | Gallbladder duplication | | MONDO:0015213|MONDO:0015116|MONDO:8000034|MONDO:8000030 | disorder | -| MONDO:0971084 | colonic duplication | Orphanet:662392 | MONDO:equivalentTo | Colonic duplication | | MONDO:0015211|MONDO:8000030|MONDO:8000034 | disorder | -| MONDO:0971085 | pyloric duplication | Orphanet:662405 | MONDO:equivalentTo | Pyloric duplication | | MONDO:8000034|MONDO:8000030|MONDO:0015209 | disorder | -| MONDO:0971086 | small intestine duplication | Orphanet:662456 | MONDO:equivalentTo | Small intestine duplication | | MONDO:8000030|MONDO:0015211|MONDO:8000034 | disorder | -| MONDO:0971087 | placenta accreta spectrum disorder | Orphanet:662721 | MONDO:equivalentTo | Placenta accreta spectrum disorder | | MONDO:0000001|MONDO:0015582|MONDO:8000034 | disorder | -| MONDO:0971088 | motor delay-microcephaly-speech impairment-ocular abnormalities syndrome | Orphanet:662762 | MONDO:equivalentTo | Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome | | MONDO:8000032|MONDO:8000034|MONDO:0017119|MONDO:0035863|MONDO:0015159 | disorder | -| MONDO:0971089 | vasa previa | Orphanet:662786 | MONDO:equivalentTo | Vasa previa | | MONDO:0015582|MONDO:8000034|MONDO:0000001 | disorder | -| MONDO:0971090 | intellectual disability-speech delay-dysmorphic features-t cell abnormalities syndrome | Orphanet:662829 | MONDO:equivalentTo | Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome | | MONDO:0015159|MONDO:0035863|MONDO:0000001|MONDO:8000034 | disorder | -| MONDO:0971091 | acute megakaryoblastic leukemia in adult | Orphanet:662934 | MONDO:equivalentTo | Acute megakaryoblastic leukemia in adult | | MONDO:8000031|MONDO:0018872 | subtype of a disorder | -| MONDO:0971092 | soft and hard cleft palate | Orphanet:664372 | MONDO:equivalentTo | Soft and hard cleft palate | | MONDO:0016064|MONDO:8000034|MONDO:8000030 | disorder | -| MONDO:0971093 | mgp-related spondyloepiphyseal dysplasia | Orphanet:664377 | MONDO:equivalentTo | MGP-related spondyloepiphyseal dysplasia | | MONDO:0015329|MONDO:8000032|MONDO:0026187|MONDO:8000034 | disorder | -| MONDO:0971094 | cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to tab2 mutation | Orphanet:664401 | MONDO:equivalentTo | Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation | | MONDO:8000031|MONDO:0016460 | subtype of a disorder | -| MONDO:0971095 | 6q25.1 microdeletion syndrome | Orphanet:664404 | MONDO:equivalentTo | 6q25.1 microdeletion syndrome | | MONDO:0016460|MONDO:8000031|MONDO:0016905 | subtype of a disorder | -| MONDO:0971096 | brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome | Orphanet:664410 | MONDO:equivalentTo | Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome | | MONDO:8000034|MONDO:0017120|MONDO:0035863|MONDO:8000032|MONDO:0015159 | disorder | -| MONDO:0971097 | neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome | Orphanet:664430 | MONDO:equivalentTo | Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome | | MONDO:8000032|MONDO:0035863|MONDO:0015159|MONDO:8000034 | disorder | -| MONDO:0971099 | inherited cancer-predisposing lymphoproliferative syndrome | Orphanet:664450 | MONDO:equivalentTo | Inherited cancer-predisposing lymphoproliferative syndrome | | MONDO:8000033|MONDO:0015356 | group of disorders | -| MONDO:0971100 | immune dysregulation disease with immunodeficiency associated with ebv susceptibility | Orphanet:664456 | MONDO:equivalentTo | Immune dysregulation disease with immunodeficiency associated with EBV susceptibility | | MONDO:8000033|MONDO:0015710 | group of disorders | -| MONDO:0971103 | nicolau syndrome | Orphanet:664787 | MONDO:equivalentTo | Nicolau syndrome | | MONDO:8000034|MONDO:0032013|MONDO:0019546 | disorder | -| MONDO:0971105 | neonatal renal venous thrombosis | Orphanet:664912 | MONDO:equivalentTo | Neonatal renal venous thrombosis | | MONDO:8000034|MONDO:0000001|MONDO:0019750 | disorder | -| MONDO:0971106 | congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome | Orphanet:664923 | MONDO:equivalentTo | Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome | | MONDO:0015168|MONDO:0015159|MONDO:0035863|MONDO:0000001|MONDO:8000034|MONDO:0017119 | disorder | -| MONDO:0971107 | common arterial trunk with aortic dominance | Orphanet:665044 | MONDO:equivalentTo | Common arterial trunk with aortic dominance | | MONDO:8000031|MONDO:0018072 | subtype of a disorder | -| MONDO:0971108 | common arterial trunk with pulmonary dominance and interrupted aortic arch | Orphanet:665058 | MONDO:equivalentTo | Common arterial trunk with pulmonary dominance and interrupted aortic arch | | MONDO:8000031|MONDO:0018072 | subtype of a disorder | -| MONDO:0971109 | isolated congenital femoral bifurcation | Orphanet:667589 | MONDO:equivalentTo | Isolated congenital femoral bifurcation | | MONDO:8000034|MONDO:8000030|MONDO:0017420 | disorder | -| MONDO:0971111 | intraoral basal cell carcinoma | Orphanet:667678 | MONDO:equivalentTo | Intraoral basal cell carcinoma | | MONDO:0000001|MONDO:0017797|MONDO:8000034 | disorder | -| MONDO:0971112 | craniosynostosis-facial dysmorphism-brachydactyly syndrome | Orphanet:672979 | MONDO:equivalentTo | Craniosynostosis-facial dysmorphism-brachydactyly syndrome | | MONDO:8000032|MONDO:0015338|MONDO:8000034 | disorder | -| MONDO:0971113 | craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome | Orphanet:672985 | MONDO:equivalentTo | Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome | | MONDO:0015338|MONDO:8000032|MONDO:8000034 | disorder | -| MONDO:0971115 | benign vascular tumor | Orphanet:673470 | MONDO:equivalentTo | Benign vascular tumor | | MONDO:8000033|MONDO:0016228 | group of disorders | -| MONDO:0971116 | borderline vascular tumor | Orphanet:673473 | MONDO:equivalentTo | Borderline vascular tumor | | MONDO:8000033|MONDO:0016228 | group of disorders | -| MONDO:0971118 | pilocytic astrocytoma with histological features of anaplasia | Orphanet:673585 | MONDO:equivalentTo | Pilocytic astrocytoma with histological features of anaplasia | | MONDO:8000031|MONDO:0016691 | subtype of a disorder | -| MONDO:0971119 | proteoglycan-related bone disorder | Orphanet:674499 | MONDO:equivalentTo | Proteoglycan-related bone disorder | | MONDO:8000033|MONDO:0031799 | group of disorders | -| MONDO:0971120 | syndrome with congenital phagocyte functional defect as a major feature | Orphanet:674648 | MONDO:equivalentTo | Syndrome with congenital phagocyte functional defect as a major feature | | MONDO:8000033|MONDO:0015978 | group of disorders | -| MONDO:0971121 | early-onset autoinflammatory syndrome due to a20 haploinsufficiency | Orphanet:674762 | MONDO:equivalentTo | Early-onset autoinflammatory syndrome due to A20 haploinsufficiency | | MONDO:0000001|MONDO:0017957|MONDO:8000034|MONDO:0017370|MONDO:0017369 | disorder | -| MONDO:0971122 | non-syndromic congenital phagocyte functional defect | Orphanet:674896 | MONDO:equivalentTo | Non-syndromic congenital phagocyte functional defect | | MONDO:8000033|MONDO:0015978 | group of disorders | -| MONDO:0971123 | isolated retinal racemose hemangioma | Orphanet:674924 | MONDO:equivalentTo | Isolated retinal racemose hemangioma | | MONDO:0000001|MONDO:8000034 | disorder | -| MONDO:0971124 | perifoveal exudative vascular anomalous complex | Orphanet:674930 | MONDO:equivalentTo | Perifoveal exudative vascular anomalous complex | | MONDO:8000034|MONDO:0000001 | disorder | -| MONDO:0971125 | torpedo maculopathy | Orphanet:674935 | MONDO:equivalentTo | Torpedo Maculopathy | | MONDO:0000001|MONDO:8000034 | disorder | -| MONDO:0971126 | isolated angioid streaks | Orphanet:674943 | MONDO:equivalentTo | Isolated angioid streaks | | MONDO:8000034|MONDO:0000001 | disorder | -| MONDO:0971127 | diffuse unilateral subacute neuroretinitis | Orphanet:674947 | MONDO:equivalentTo | Diffuse unilateral subacute neuroretinitis | | MONDO:0015577|MONDO:0000001|MONDO:8000034 | disorder | -| MONDO:0971128 | multiple evanescent white dot syndrome | Orphanet:674953 | MONDO:equivalentTo | Multiple evanescent white dot syndrome | | MONDO:8000034|MONDO:0000001 | disorder | -| MONDO:0971129 | stellate multiform amelanotic choroidopathy | Orphanet:674958 | MONDO:equivalentTo | Stellate multiform amelanotic choroidopathy | | MONDO:8000034|MONDO:0000001 | disorder | -| MONDO:0971130 | choroidal osteoma | Orphanet:674965 | MONDO:equivalentTo | Choroidal osteoma | | MONDO:8000034|MONDO:0000001|MONDO:0015121 | disorder | -| MONDO:0971131 | bilateral diffuse uveal melanocytic proliferation disease | Orphanet:674968 | MONDO:equivalentTo | Bilateral diffuse uveal melanocytic proliferation disease | | MONDO:8000034|MONDO:0000001 | disorder | -| MONDO:0971132 | spinocerebellar ataxia type 27b | Orphanet:675216 | MONDO:equivalentTo | Spinocerebellar ataxia type 27B | | MONDO:0019792|MONDO:8000034|MONDO:0000001 | disorder | -| MONDO:0971133 | isolated segmental infantile hemangioma | Orphanet:675380 | MONDO:equivalentTo | Isolated segmental infantile hemangioma | | MONDO:0016223|MONDO:8000034|MONDO:0000001 | disorder | -| MONDO:0971135 | tlr8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome | Orphanet:675628 | MONDO:equivalentTo | TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome | | MONDO:8000034|MONDO:0000001|MONDO:0018032|MONDO:0020083 | disorder | -| MONDO:0971136 | severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to srp54 deficiency | Orphanet:675767 | MONDO:equivalentTo | Severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to SRP54 deficiency | | MONDO:0035862|MONDO:0018032|MONDO:8000034|MONDO:0000001 | disorder | -| MONDO:0971137 | severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome | Orphanet:675775 | MONDO:equivalentTo | Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome | | MONDO:0015159|MONDO:0016404|MONDO:0035863|MONDO:0020076|MONDO:0000001|MONDO:8000034 | disorder | -| MONDO:0971138 | progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to fyve-defective rbsn | Orphanet:675782 | MONDO:equivalentTo | Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN | | MONDO:8000034|MONDO:0017739|MONDO:0035863|MONDO:0000001|MONDO:0015159 | disorder | -| MONDO:0971139 | adenomatoid tumour of the pleura | Orphanet:675814 | MONDO:equivalentTo | Adenomatoid tumour of the pleura | | MONDO:8000034|MONDO:0000001|MONDO:0015119 | disorder | -| MONDO:0971140 | well-differentiated papillary mesothelial tumour of the pleura | Orphanet:675822 | MONDO:equivalentTo | Well-differentiated papillary mesothelial tumour of the pleura | | MONDO:8000034|MONDO:0000001|MONDO:0015119 | disorder | -| MONDO:0971141 | localized pleural mesothelioma | Orphanet:675833 | MONDO:equivalentTo | Localized pleural mesothelioma | | MONDO:8000031|MONDO:0006292 | subtype of a disorder | -| MONDO:0971142 | diffused pleural mesothelioma | Orphanet:675837 | MONDO:equivalentTo | Diffused pleural mesothelioma | | MONDO:8000031|MONDO:0006292 | subtype of a disorder | -| MONDO:0971143 | pleural mesothelioma in situ | Orphanet:675841 | MONDO:equivalentTo | Pleural mesothelioma in situ | | MONDO:8000031|MONDO:0006292 | subtype of a disorder | -| MONDO:0971144 | primary benign peritoneal tumor | Orphanet:676030 | MONDO:equivalentTo | Primary benign peritoneal tumor | | MONDO:8000033|MONDO:0015682 | group of disorders | -| MONDO:0971145 | peritoneal mesothelioma in situ | Orphanet:676036 | MONDO:equivalentTo | Peritoneal mesothelioma in situ | | MONDO:8000034|MONDO:0000001|MONDO:0015683 | disorder | -| MONDO:0971146 | combined immunodeficiency due to foxn1 haploinsufficiency | Orphanet:676039 | MONDO:equivalentTo | Combined immunodeficiency due to FOXN1 haploinsufficiency | | MONDO:8000034|MONDO:0018814|MONDO:0000001 | disorder | -| MONDO:0971147 | x-linked immune dysregulation with inflammatory bowel disease due to elf4 deficiency | Orphanet:676125 | MONDO:equivalentTo | X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency | | MONDO:8000034|MONDO:0017957|MONDO:0000001|MONDO:0033967 | disorder | -| MONDO:0971154 | hepatic cutaneous porphyria | Orphanet:659698 | MONDO:equivalentTo | Hepatic cutaneous porphyria | | MONDO:0002520|MONDO:8000033 | group of disorders | \ No newline at end of file +| mondo_id | mondo_label | xref | xref_source | original_label | definition | parents | subset | +|:--------------|:-------------------------------------------------------------------------------------------------------------------------|:---------------------|:---------------------------|:-------------------------------------------------------------------------------------------------------------------------|:--------------|:--------------------------------------------------------|:----------------------| +| ID | LABEL | A oboInOwl:hasDbXref | >A oboInOwl:source SPLIT=| | | A IAO:0000115 | SC % | | +| MONDO:0971055 | rare yersiniosis | Orphanet:659712 | MONDO:equivalentTo | Rare yersiniosis | | MONDO:8000033|MONDO:0015575 | group of disorders | +| MONDO:0971082 | gastric duplication | Orphanet:662376 | MONDO:equivalentTo | Gastric duplication | | MONDO:8000034|MONDO:8000030|MONDO:0015209 | disorder | +| MONDO:0971083 | gallbladder duplication | Orphanet:662388 | MONDO:equivalentTo | Gallbladder duplication | | MONDO:0015213|MONDO:0015116|MONDO:8000034|MONDO:8000030 | disorder | +| MONDO:0971084 | colonic duplication | Orphanet:662392 | MONDO:equivalentTo | Colonic duplication | | MONDO:0015211|MONDO:8000030|MONDO:8000034 | disorder | +| MONDO:0971085 | pyloric duplication | Orphanet:662405 | MONDO:equivalentTo | Pyloric duplication | | MONDO:8000034|MONDO:8000030|MONDO:0015209 | disorder | +| MONDO:0971086 | small intestine duplication | Orphanet:662456 | MONDO:equivalentTo | Small intestine duplication | | MONDO:8000030|MONDO:0015211|MONDO:8000034 | disorder | +| MONDO:0971089 | vasa previa | Orphanet:662786 | MONDO:equivalentTo | Vasa previa | | MONDO:0015582|MONDO:8000034|MONDO:0000001 | disorder | +| MONDO:0971099 | inherited cancer-predisposing lymphoproliferative syndrome | Orphanet:664450 | MONDO:equivalentTo | Inherited cancer-predisposing lymphoproliferative syndrome | | MONDO:8000033|MONDO:0015356 | group of disorders | +| MONDO:0971100 | immune dysregulation disease with immunodeficiency associated with ebv susceptibility | Orphanet:664456 | MONDO:equivalentTo | Immune dysregulation disease with immunodeficiency associated with EBV susceptibility | | MONDO:8000033|MONDO:0015710 | group of disorders | +| MONDO:0971109 | isolated congenital femoral bifurcation | Orphanet:667589 | MONDO:equivalentTo | Isolated congenital femoral bifurcation | | MONDO:8000034|MONDO:8000030|MONDO:0017420 | disorder | +| MONDO:0971120 | syndrome with congenital phagocyte functional defect as a major feature | Orphanet:674648 | MONDO:equivalentTo | Syndrome with congenital phagocyte functional defect as a major feature | | MONDO:8000033|MONDO:0015978 | group of disorders | +| MONDO:0971122 | non-syndromic congenital phagocyte functional defect | Orphanet:674896 | MONDO:equivalentTo | Non-syndromic congenital phagocyte functional defect | | MONDO:8000033|MONDO:0015978 | group of disorders | +| MONDO:0971144 | primary benign peritoneal tumor | Orphanet:676030 | MONDO:equivalentTo | Primary benign peritoneal tumor | | MONDO:8000033|MONDO:0015682 | group of disorders | +| MONDO:0975751 | brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to mef2c mutation | Orphanet:664416 | MONDO:equivalentTo | Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation | | MONDO:0013266|MONDO:8000031 | subtype of a disorder | +| MONDO:0975752 | littoral cell hemangioma of the spleen | Orphanet:673538 | MONDO:equivalentTo | Littoral cell hemangioma of the spleen | | MONDO:0000001|MONDO:0971115|MONDO:8000034 | disorder | +| MONDO:0975753 | papillary hemangioma | Orphanet:673543 | MONDO:equivalentTo | Papillary hemangioma | | MONDO:0971115|MONDO:8000034|MONDO:0000001 | disorder | +| MONDO:0975754 | pseudomyogenic hemangioendothelioma | Orphanet:673556 | MONDO:equivalentTo | Pseudomyogenic hemangioendothelioma | | MONDO:0971116|MONDO:8000034|MONDO:0018729|MONDO:0000001 | disorder | +| MONDO:0975755 | eccrine angiomatous hamartoma | Orphanet:673568 | MONDO:equivalentTo | Eccrine angiomatous hamartoma | | MONDO:8000034|MONDO:0000001|MONDO:0019300|MONDO:0971115 | disorder | +| MONDO:0975756 | reactive angioendotheliomatosis | Orphanet:673574 | MONDO:equivalentTo | Reactive angioendotheliomatosis | | MONDO:8000034|MONDO:0971115|MONDO:0000001 | disorder | +| MONDO:0975757 | anastomosing haemangioma | Orphanet:675359 | MONDO:equivalentTo | Anastomosing haemangioma | | MONDO:8000034|MONDO:0971115|MONDO:0000001|MONDO:0018729 | disorder | +| MONDO:0975758 | microvenular haemangioma | Orphanet:675369 | MONDO:equivalentTo | Microvenular haemangioma | | MONDO:0971115|MONDO:8000034|MONDO:0000001 | disorder | +| MONDO:0975759 | acquired elastotic haemangioma | Orphanet:675597 | MONDO:equivalentTo | Acquired elastotic haemangioma | | MONDO:0971115|MONDO:8000034|MONDO:0000001 | disorder | \ No newline at end of file diff --git a/docs/reports/unmapped.md b/docs/reports/unmapped.md index 5318c8fe0..8edb1c95a 100644 --- a/docs/reports/unmapped.md +++ b/docs/reports/unmapped.md @@ -6,9 +6,9 @@ | [ICD11FOUNDATION](./unmapped_icd11foundation.md) | 57,713 | 0 | 5,594 | 5,594 | 52,119 | 4,107 | 48,012 | 92.1% | | [NCIT](./unmapped_ncit.md) | 191,123 | 169,937 | 5,221 | 5,216 | 15,965 | 3,675 | 12,290 | 77.0% | | [GARD](./unmapped_gard.md) | 12,004 | 0 | 0 | 0 | 12,004 | 0 | 12,004 | 100.0% | -| [ORDO](./unmapped_ordo.md) | 15,561 | 6,270 | 1,424 | 1,257 | 9,291 | 9,133 | 158 | 1.7% | -| [DOID](./unmapped_doid.md) | 14,096 | 2,656 | 2,484 | 2,474 | 11,438 | 11,390 | 48 | 0.4% | -| [OMIM](./unmapped_omim.md) | 29,424 | 19,306 | 1,366 | 1,322 | 8,753 | 8,752 | 1 | 0.0% | +| [ORDO](./unmapped_ordo.md) | 15,561 | 6,270 | 1,424 | 1,257 | 9,291 | 9,205 | 86 | 0.9% | +| [DOID](./unmapped_doid.md) | 14,132 | 2,660 | 2,488 | 2,475 | 11,470 | 11,417 | 53 | 0.5% | +| [OMIM](./unmapped_omim.md) | 29,452 | 19,329 | 1,366 | 1,324 | 8,758 | 8,752 | 6 | 0.1% | `Ontology`: Name of ontology `Tot terms`: Total terms in ontology diff --git a/docs/reports/unmapped_doid.md b/docs/reports/unmapped_doid.md index 221f2914f..52e6b8301 100644 --- a/docs/reports/unmapped_doid.md +++ b/docs/reports/unmapped_doid.md @@ -2,53 +2,58 @@ [Interactive FlatGithub table](https://flatgithub.com/monarch-initiative/mondo-ingest?filename=src/ontology/reports/doid_mapping_status.tsv) ### Unmapped mappable terms _(!excluded, !deprecated)_ -| subject_id | subject_label | -|:-------------|:------------------------------------------------------------------------------------| -| DOID:0060979 | Fanconi anemia complementation group S | -| DOID:0060978 | Fanconi anemia complementation group W | -| DOID:0070562 | Fanconi-Bickel syndrome | -| DOID:0070550 | KRT1-related nonepidermolytic palmoplantar keratoderma | -| DOID:0070555 | Nagashima-type palmoplantar keratosis | -| DOID:0060973 | WHIM syndrome 2 | -| DOID:2934 | aleutian mink disease | -| DOID:0081455 | auto-brewery syndrome | -| DOID:0060974 | autosomal recessive Robinow syndrome 2 | -| DOID:0060854 | autosomal recessive pseudohypoaldosteronism type 1 | -| DOID:0081456 | bladder fermentation syndrome | -| DOID:5154 | borna disease | -| DOID:0070556 | cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 | -| DOID:0070557 | cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 | -| DOID:0070558 | cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 | -| DOID:0070559 | cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 | -| DOID:0060160 | childhood spinal muscular atrophy | -| DOID:0111368 | cholesterol-ester transfer protein deficiency | -| DOID:2536 | chronic inflammatory demyelinating polyneuritis | -| DOID:4668 | congenital kyphosis | -| DOID:0070552 | epidermolytic palmoplantar keratoderma 1 | -| DOID:0070551 | epidermolytic palmoplantar keratoderma 2 | -| DOID:0070553 | focal palmoplantar and gingival keratosis | -| DOID:0070560 | glucose transporter type 1 deficiency syndrome | -| DOID:0070561 | glucose transporter type 1 deficiency syndrome 1 | -| DOID:0070563 | glucose-galactose malabsorption | -| DOID:0060971 | interstitial lung disease 2 | -| DOID:0081457 | intrathyroid thymic carcinoma | -| DOID:0060333 | mitochondrial complex V (ATP synthase) deficiency nuclear type 4 | -| DOID:0060981 | mosaic variegated aneuploidy syndrome 4 | -| DOID:0060982 | mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition | -| DOID:0070554 | palmoplantar keratoderma and woolly hair | -| DOID:146 | papilledema | -| DOID:0060980 | polycystic liver disease 1 | -| DOID:0060975 | polycystic liver disease 2 | -| DOID:0060976 | polycystic liver disease 3 with or without kidney cysts | -| DOID:0060977 | polycystic liver disease 4 with or without kidney cysts | -| DOID:9373 | postural kyphosis | -| DOID:0070546 | primary pigmented nodular adrenocortical disease 1 | -| DOID:0070547 | primary pigmented nodular adrenocortical disease 2 | -| DOID:0070548 | primary pigmented nodular adrenocortical disease 3 | -| DOID:0070549 | primary pigmented nodular adrenocortical disease 4 | -| DOID:0060972 | renal hypomagnesemia 7, with or without dilated cardiomyopathy | -| DOID:0060983 | sitosterolemia 2 | -| DOID:0081458 | thyroid gland cribriform morular carcinoma | -| DOID:0081459 | thyroid gland mixed medullary and follicular cell-derived carcinoma | -| DOID:0081460 | thyroid gland mucinous carcinoma | -| DOID:0081461 | thyroid gland spindle epithelial tumor with thymus-like elements | \ No newline at end of file +| subject_id | subject_label | +|:-------------|:--------------------------------------------------------------------| +| DOID:0070595 | X-linked spermatogenic failure 4 | +| DOID:0070596 | X-linked spermatogenic failure 5 | +| DOID:0070597 | X-linked spermatogenic failure 6 | +| DOID:0070598 | X-linked spermatogenic failure 7 | +| DOID:0070599 | X-linked spermatogenic failure 8 | +| DOID:2934 | aleutian mink disease | +| DOID:0081455 | auto-brewery syndrome | +| DOID:0060854 | autosomal recessive pseudohypoaldosteronism type 1 | +| DOID:0081456 | bladder fermentation syndrome | +| DOID:5154 | borna disease | +| DOID:0060160 | childhood spinal muscular atrophy | +| DOID:0111368 | cholesterol-ester transfer protein deficiency | +| DOID:2536 | chronic inflammatory demyelinating polyneuritis | +| DOID:4668 | congenital kyphosis | +| DOID:0070564 | dialysis disequilibrium syndrome | +| DOID:0050156 | idiopathic pulmonary fibrosis | +| DOID:0081457 | intrathyroid thymic carcinoma | +| DOID:0060333 | mitochondrial complex V (ATP synthase) deficiency nuclear type 4 | +| DOID:146 | papilledema | +| DOID:9373 | postural kyphosis | +| DOID:0070565 | spermatogenic failure 66 | +| DOID:0070566 | spermatogenic failure 67 | +| DOID:0070567 | spermatogenic failure 68 | +| DOID:0070568 | spermatogenic failure 69 | +| DOID:0070569 | spermatogenic failure 70 | +| DOID:0070570 | spermatogenic failure 71 | +| DOID:0070571 | spermatogenic failure 72 | +| DOID:0070572 | spermatogenic failure 73 | +| DOID:0070573 | spermatogenic failure 74 | +| DOID:0070574 | spermatogenic failure 75 | +| DOID:0070575 | spermatogenic failure 76 | +| DOID:0070576 | spermatogenic failure 77 | +| DOID:0070577 | spermatogenic failure 78 | +| DOID:0070578 | spermatogenic failure 79 | +| DOID:0070579 | spermatogenic failure 80 | +| DOID:0070580 | spermatogenic failure 81 | +| DOID:0070581 | spermatogenic failure 82 | +| DOID:0070582 | spermatogenic failure 83 | +| DOID:0070583 | spermatogenic failure 84 | +| DOID:0070584 | spermatogenic failure 85 | +| DOID:0070585 | spermatogenic failure 86 | +| DOID:0070586 | spermatogenic failure 87 | +| DOID:0070587 | spermatogenic failure 88 | +| DOID:0070588 | spermatogenic failure 89 | +| DOID:0070589 | spermatogenic failure 90 | +| DOID:0070590 | spermatogenic failure 91 | +| DOID:0070591 | spermatogenic failure 92 | +| DOID:0070592 | spermatogenic failure 93 | +| DOID:0070593 | spermatogenic failure 94 | +| DOID:0070594 | spermatogenic failure 95 | +| DOID:0081458 | thyroid gland cribriform morular carcinoma | +| DOID:0081459 | thyroid gland mixed medullary and follicular cell-derived carcinoma | +| DOID:0081460 | thyroid gland mucinous carcinoma | \ No newline at end of file diff --git a/docs/reports/unmapped_omim.md b/docs/reports/unmapped_omim.md index 3f21aa21b..8988ea997 100644 --- a/docs/reports/unmapped_omim.md +++ b/docs/reports/unmapped_omim.md @@ -2,6 +2,11 @@ [Interactive FlatGithub table](https://flatgithub.com/monarch-initiative/mondo-ingest?filename=src/ontology/reports/omim_mapping_status.tsv) ### Unmapped mappable terms _(!excluded, !deprecated)_ -| subject_id | subject_label | -|:-------------|:--------------------------------------| -| OMIM:620910 | otofacial neurodevelopmental syndrome | \ No newline at end of file +| subject_id | subject_label | +|:-------------|:--------------------------------------------------------------------------------------------------| +| OMIM:620926 | immunodeficiency 125 | +| OMIM:620888 | neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1 | +| OMIM:620910 | otofacial neurodevelopmental syndrome | +| OMIM:620923 | parkinson disease 26, autosomal dominant, susceptibility to | +| OMIM:620911 | spastic paraplegia 92, autosomal recessive | +| OMIM:620917 | spermatogenic failure 95 | \ No newline at end of file diff --git a/docs/reports/unmapped_ordo.md b/docs/reports/unmapped_ordo.md index 543fe49a2..9239f38fa 100644 --- a/docs/reports/unmapped_ordo.md +++ b/docs/reports/unmapped_ordo.md @@ -8,114 +8,42 @@ | Orphanet:409976 | 1-9 / 1 000 000 | | Orphanet:409977 | 1-9 / 100 000 | | Orphanet:409978 | 6-9 / 10 000 | -| Orphanet:664404 | 6q25.1 microdeletion syndrome | | Orphanet:409979 | <1 / 1 000 000 | | Orphanet:409980 | >1 / 1000 | | Orphanet:675597 | Acquired elastotic haemangioma | | Orphanet:674653 | Actinomyopathy-associated syndromic thrombocytopenia | -| Orphanet:662934 | Acute megakaryoblastic leukemia in adult | | Orphanet:675976 | Adenomatoid tumour of the peritoneum | -| Orphanet:675814 | Adenomatoid tumour of the pleura | | Orphanet:675359 | Anastomosing haemangioma | -| Orphanet:673470 | Benign vascular tumor | -| Orphanet:674968 | Bilateral diffuse uveal melanocytic proliferation disease | -| Orphanet:673473 | Borderline vascular tumor | -| Orphanet:664410 | Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome | | Orphanet:664416 | Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation | -| Orphanet:664401 | Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation | -| Orphanet:674965 | Choroidal osteoma | | Orphanet:662392 | Colonic duplication | -| Orphanet:676039 | Combined immunodeficiency due to FOXN1 haploinsufficiency | -| Orphanet:665044 | Common arterial trunk with aortic dominance | -| Orphanet:665058 | Common arterial trunk with pulmonary dominance and interrupted aortic arch | -| Orphanet:664923 | Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome | -| Orphanet:662184 | Congenital muscular dystrophy-cataract-intellectual disability syndrome | -| Orphanet:672979 | Craniosynostosis-facial dysmorphism-brachydactyly syndrome | -| Orphanet:672985 | Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome | -| Orphanet:660017 | Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome | -| Orphanet:660012 | Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation | -| Orphanet:674947 | Diffuse unilateral subacute neuroretinitis | -| Orphanet:675837 | Diffused pleural mesothelioma | | Orphanet:662473 | Duodenal duplication | | Orphanet:664734 | EBV susceptibility with hemophagocytic lymphohistiocytosis as a major feature | | Orphanet:664726 | EBV-induced lymphoproliferative disease due to CD137 deficiency | | Orphanet:664711 | EBV-induced lymphoproliferative disease due to PRKCD deficiency | | Orphanet:664699 | EBV-induced lymphoproliferative disease due to RASGRP1 deficiency | | Orphanet:664729 | EBV-induced lymphoproliferative disease due to TET2 deficiency | -| Orphanet:674762 | Early-onset autoinflammatory syndrome due to A20 haploinsufficiency | | Orphanet:673568 | Eccrine angiomatous hamartoma | -| Orphanet:662229 | Episodic memory defect leukoencephalopathy | -| Orphanet:659681 | Erythropoietic porphyria | -| Orphanet:659609 | Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome | | Orphanet:662388 | Gallbladder duplication | | Orphanet:662376 | Gastric duplication | -| Orphanet:662255 | Grisel syndrome | -| Orphanet:659698 | Hepatic cutaneous porphyria | | Orphanet:664456 | Immune dysregulation disease with immunodeficiency associated with EBV susceptibility | | Orphanet:664450 | Inherited cancer-predisposing lymphoproliferative syndrome | -| Orphanet:662829 | Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome | -| Orphanet:667678 | Intraoral basal cell carcinoma | -| Orphanet:659702 | Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome | -| Orphanet:674943 | Isolated angioid streaks | | Orphanet:667589 | Isolated congenital femoral bifurcation | -| Orphanet:674924 | Isolated retinal racemose hemangioma | -| Orphanet:675380 | Isolated segmental infantile hemangioma | | Orphanet:662480 | Jujeno-ileal duplication | | Orphanet:673538 | Littoral cell hemangioma of the spleen | -| Orphanet:675833 | Localized pleural mesothelioma | -| Orphanet:661526 | MBD4-related tumor predisposition syndrome | -| Orphanet:664377 | MGP-related spondyloepiphyseal dysplasia | -| Orphanet:662175 | Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome | -| Orphanet:661412 | Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency | -| Orphanet:662179 | Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome | | Orphanet:675369 | Microvenular haemangioma | -| Orphanet:662762 | Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome | -| Orphanet:662216 | Mucopolysaccharidosis type 10 | -| Orphanet:659904 | Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome | -| Orphanet:674953 | Multiple evanescent white dot syndrome | -| Orphanet:664912 | Neonatal renal venous thrombosis | -| Orphanet:662198 | Neurodevelopmental delay-intellectual disability-skeletal defects syndrome | -| Orphanet:662189 | Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome | -| Orphanet:664430 | Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome | -| Orphanet:664787 | Nicolau syndrome | | Orphanet:674896 | Non-syndromic congenital phagocyte functional defect | -| Orphanet:659744 | Ocular surface squamous neoplasia | -| Orphanet:660021 | Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome | -| Orphanet:659387 | PRC-2 complex-related overgrowth spectrum | | Orphanet:673543 | Papillary hemangioma | -| Orphanet:674930 | Perifoveal exudative vascular anomalous complex | -| Orphanet:676036 | Peritoneal mesothelioma in situ | -| Orphanet:662169 | Phelan-McDermid syndrome due to 22q13.3 deletion | -| Orphanet:662172 | Phelan-McDermid syndrome due to SHANK3 mutation | -| Orphanet:673585 | Pilocytic astrocytoma with histological features of anaplasia | -| Orphanet:662721 | Placenta accreta spectrum disorder | -| Orphanet:675841 | Pleural mesothelioma in situ | | Orphanet:676030 | Primary benign peritoneal tumor | -| Orphanet:675782 | Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN | -| Orphanet:674499 | Proteoglycan-related bone disorder | | Orphanet:673556 | Pseudomyogenic hemangioendothelioma | | Orphanet:662405 | Pyloric duplication | | Orphanet:659712 | Rare yersiniosis | | Orphanet:673574 | Reactive angioendotheliomatosis | -| Orphanet:659634 | Relapsing isolated optic neuritis | -| Orphanet:659975 | Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome | -| Orphanet:675775 | Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome | -| Orphanet:675767 | Severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to SRP54 deficiency | -| Orphanet:659626 | Single isolated optic neuritis | | Orphanet:662456 | Small intestine duplication | -| Orphanet:664372 | Soft and hard cleft palate | -| Orphanet:675216 | Spinocerebellar ataxia type 27B | -| Orphanet:674958 | Stellate multiform amelanotic choroidopathy | | Orphanet:674648 | Syndrome with congenital phagocyte functional defect as a major feature | -| Orphanet:675628 | TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome | -| Orphanet:674935 | Torpedo Maculopathy | | Orphanet:409981 | Unknown_epidemiological_range | | Orphanet:662786 | Vasa previa | -| Orphanet:659759 | Verruga peruana | | Orphanet:676033 | Well-differentiated papillary mesothelial tumour of the peritoneum | -| Orphanet:675822 | Well-differentiated papillary mesothelial tumour of the pleura | | Orphanet:409934 | X-linked dominant | -| Orphanet:676125 | X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency | | Orphanet:409932 | X-linked recessive | | Orphanet:409938 | Y-linked | | Orphanet:659707 | Yersinia pseudotuberculosis infection | diff --git a/src/mappings/doid.sssom.tsv b/src/mappings/doid.sssom.tsv index fd4b87ea5..2aa58b5c6 100644 --- a/src/mappings/doid.sssom.tsv +++ b/src/mappings/doid.sssom.tsv @@ -3365,10 +3365,8 @@ DOID:0060535 Warsaw breakage syndrome oboInOwl:hasDbXref ORDO:280558 semapv:Unsp DOID:0060535 Warsaw breakage syndrome skos:exactMatch OMIM:613398 semapv:UnspecifiedMatching DOID:0060536 mitochondrial complex I deficiency oboInOwl:hasDbXref GARD:3908 semapv:UnspecifiedMatching DOID:0060536 mitochondrial complex I deficiency oboInOwl:hasDbXref MESH:C537475 semapv:UnspecifiedMatching -DOID:0060536 mitochondrial complex I deficiency oboInOwl:hasDbXref OMIM:252010 semapv:UnspecifiedMatching DOID:0060536 mitochondrial complex I deficiency oboInOwl:hasDbXref ORDO:2609 semapv:UnspecifiedMatching DOID:0060536 mitochondrial complex I deficiency oboInOwl:hasDbXref UMLS:C1838979 semapv:UnspecifiedMatching -DOID:0060536 mitochondrial complex I deficiency skos:exactMatch OMIM:252010 semapv:UnspecifiedMatching DOID:0060537 mitochondrial complex II deficiency oboInOwl:hasDbXref GARD:5053 semapv:UnspecifiedMatching DOID:0060537 mitochondrial complex II deficiency oboInOwl:hasDbXref ICD10CM:G71.3 semapv:UnspecifiedMatching DOID:0060537 mitochondrial complex II deficiency oboInOwl:hasDbXref MESH:C565375 semapv:UnspecifiedMatching @@ -4779,10 +4777,6 @@ DOID:0060961 orofaciodigital syndrome XVIII oboInOwl:hasDbXref ORDO:508501 semap DOID:0060961 orofaciodigital syndrome XVIII skos:exactMatch OMIM:617927 semapv:UnspecifiedMatching DOID:0060962 orofaciodigital syndrome XX oboInOwl:hasDbXref OMIM:620718 semapv:UnspecifiedMatching DOID:0060962 orofaciodigital syndrome XX skos:exactMatch OMIM:620718 semapv:UnspecifiedMatching -DOID:0060963 dystonia, DOPA-responsive oboInOwl:hasDbXref ICD10CM:G24.1 semapv:UnspecifiedMatching -DOID:0060963 dystonia, DOPA-responsive oboInOwl:hasDbXref OMIM:128230 semapv:UnspecifiedMatching -DOID:0060963 dystonia, DOPA-responsive oboInOwl:hasDbXref ORDO:98808 semapv:UnspecifiedMatching -DOID:0060963 dystonia, DOPA-responsive skos:exactMatch OMIM:128230 semapv:UnspecifiedMatching DOID:0060964 Loeys-Dietz syndrome 6 oboInOwl:hasDbXref OMIM:619656 semapv:UnspecifiedMatching DOID:0060964 Loeys-Dietz syndrome 6 skos:exactMatch OMIM:619656 semapv:UnspecifiedMatching DOID:0060965 episodic ataxia type 9 oboInOwl:hasDbXref OMIM:618924 semapv:UnspecifiedMatching @@ -4808,10 +4802,10 @@ DOID:0060974 autosomal recessive Robinow syndrome 2 oboInOwl:hasDbXref OMIM:6185 DOID:0060974 autosomal recessive Robinow syndrome 2 skos:exactMatch OMIM:618529 semapv:UnspecifiedMatching DOID:0060975 polycystic liver disease 2 oboInOwl:hasDbXref OMIM:617004 semapv:UnspecifiedMatching DOID:0060975 polycystic liver disease 2 skos:exactMatch OMIM:617004 semapv:UnspecifiedMatching -DOID:0060976 polycystic liver disease 3 with or without kidney cysts oboInOwl:hasDbXref OMIM:617874 semapv:UnspecifiedMatching -DOID:0060976 polycystic liver disease 3 with or without kidney cysts skos:exactMatch OMIM:617874 semapv:UnspecifiedMatching -DOID:0060977 polycystic liver disease 4 with or without kidney cysts oboInOwl:hasDbXref OMIM:617875 semapv:UnspecifiedMatching -DOID:0060977 polycystic liver disease 4 with or without kidney cysts skos:exactMatch OMIM:617875 semapv:UnspecifiedMatching +DOID:0060976 polycystic liver disease 3 oboInOwl:hasDbXref OMIM:617874 semapv:UnspecifiedMatching +DOID:0060976 polycystic liver disease 3 skos:exactMatch OMIM:617874 semapv:UnspecifiedMatching +DOID:0060977 polycystic liver disease 4 oboInOwl:hasDbXref OMIM:617875 semapv:UnspecifiedMatching +DOID:0060977 polycystic liver disease 4 skos:exactMatch OMIM:617875 semapv:UnspecifiedMatching DOID:0060978 Fanconi anemia complementation group W oboInOwl:hasDbXref OMIM:617784 semapv:UnspecifiedMatching DOID:0060978 Fanconi anemia complementation group W skos:exactMatch OMIM:617784 semapv:UnspecifiedMatching DOID:0060979 Fanconi anemia complementation group S oboInOwl:hasDbXref OMIM:617883 semapv:UnspecifiedMatching @@ -6471,6 +6465,80 @@ DOID:0070563 glucose-galactose malabsorption skos:exactMatch MESH:C562602 semapv DOID:0070563 glucose-galactose malabsorption skos:exactMatch OMIM:606824 semapv:UnspecifiedMatching DOID:0070563 glucose-galactose malabsorption skos:exactMatch ORDO:35710 semapv:UnspecifiedMatching DOID:0070563 glucose-galactose malabsorption skos:exactMatch UMLS:C0268186 semapv:UnspecifiedMatching +DOID:0070564 dialysis disequilibrium syndrome oboInOwl:hasDbXref NCI:C114781 semapv:UnspecifiedMatching +DOID:0070564 dialysis disequilibrium syndrome oboInOwl:hasDbXref UMLS:C0403559 semapv:UnspecifiedMatching +DOID:0070564 dialysis disequilibrium syndrome skos:exactMatch NCI:C114781 semapv:UnspecifiedMatching +DOID:0070564 dialysis disequilibrium syndrome skos:exactMatch UMLS:C0403559 semapv:UnspecifiedMatching +DOID:0070565 spermatogenic failure 66 oboInOwl:hasDbXref OMIM:619799 semapv:UnspecifiedMatching +DOID:0070565 spermatogenic failure 66 skos:exactMatch OMIM:619799 semapv:UnspecifiedMatching +DOID:0070566 spermatogenic failure 67 oboInOwl:hasDbXref OMIM:619803 semapv:UnspecifiedMatching +DOID:0070566 spermatogenic failure 67 skos:exactMatch OMIM:619803 semapv:UnspecifiedMatching +DOID:0070567 spermatogenic failure 68 oboInOwl:hasDbXref OMIM:619805 semapv:UnspecifiedMatching +DOID:0070567 spermatogenic failure 68 skos:exactMatch OMIM:619805 semapv:UnspecifiedMatching +DOID:0070568 spermatogenic failure 69 oboInOwl:hasDbXref OMIM:619826 semapv:UnspecifiedMatching +DOID:0070568 spermatogenic failure 69 skos:exactMatch OMIM:619826 semapv:UnspecifiedMatching +DOID:0070569 spermatogenic failure 70 oboInOwl:hasDbXref OMIM:619828 semapv:UnspecifiedMatching +DOID:0070569 spermatogenic failure 70 skos:exactMatch OMIM:619828 semapv:UnspecifiedMatching +DOID:0070570 spermatogenic failure 71 oboInOwl:hasDbXref OMIM:619831 semapv:UnspecifiedMatching +DOID:0070570 spermatogenic failure 71 skos:exactMatch OMIM:619831 semapv:UnspecifiedMatching +DOID:0070571 spermatogenic failure 72 oboInOwl:hasDbXref OMIM:619867 semapv:UnspecifiedMatching +DOID:0070571 spermatogenic failure 72 skos:exactMatch OMIM:619867 semapv:UnspecifiedMatching +DOID:0070572 spermatogenic failure 73 oboInOwl:hasDbXref OMIM:619878 semapv:UnspecifiedMatching +DOID:0070572 spermatogenic failure 73 skos:exactMatch OMIM:619878 semapv:UnspecifiedMatching +DOID:0070573 spermatogenic failure 74 oboInOwl:hasDbXref OMIM:619937 semapv:UnspecifiedMatching +DOID:0070573 spermatogenic failure 74 skos:exactMatch OMIM:619937 semapv:UnspecifiedMatching +DOID:0070574 spermatogenic failure 75 oboInOwl:hasDbXref OMIM:619949 semapv:UnspecifiedMatching +DOID:0070574 spermatogenic failure 75 skos:exactMatch OMIM:619949 semapv:UnspecifiedMatching +DOID:0070575 spermatogenic failure 76 oboInOwl:hasDbXref OMIM:620084 semapv:UnspecifiedMatching +DOID:0070575 spermatogenic failure 76 skos:exactMatch OMIM:620084 semapv:UnspecifiedMatching +DOID:0070576 spermatogenic failure 77 oboInOwl:hasDbXref OMIM:620103 semapv:UnspecifiedMatching +DOID:0070576 spermatogenic failure 77 skos:exactMatch OMIM:620103 semapv:UnspecifiedMatching +DOID:0070577 spermatogenic failure 78 oboInOwl:hasDbXref OMIM:620170 semapv:UnspecifiedMatching +DOID:0070577 spermatogenic failure 78 skos:exactMatch OMIM:620170 semapv:UnspecifiedMatching +DOID:0070578 spermatogenic failure 79 oboInOwl:hasDbXref OMIM:620196 semapv:UnspecifiedMatching +DOID:0070578 spermatogenic failure 79 skos:exactMatch OMIM:620196 semapv:UnspecifiedMatching +DOID:0070579 spermatogenic failure 80 oboInOwl:hasDbXref OMIM:620222 semapv:UnspecifiedMatching +DOID:0070579 spermatogenic failure 80 skos:exactMatch OMIM:620222 semapv:UnspecifiedMatching +DOID:0070580 spermatogenic failure 81 oboInOwl:hasDbXref OMIM:620277 semapv:UnspecifiedMatching +DOID:0070580 spermatogenic failure 81 skos:exactMatch OMIM:620277 semapv:UnspecifiedMatching +DOID:0070581 spermatogenic failure 82 oboInOwl:hasDbXref OMIM:620353 semapv:UnspecifiedMatching +DOID:0070581 spermatogenic failure 82 skos:exactMatch OMIM:620353 semapv:UnspecifiedMatching +DOID:0070582 spermatogenic failure 83 oboInOwl:hasDbXref OMIM:620354 semapv:UnspecifiedMatching +DOID:0070582 spermatogenic failure 83 skos:exactMatch OMIM:620354 semapv:UnspecifiedMatching +DOID:0070583 spermatogenic failure 84 oboInOwl:hasDbXref OMIM:620409 semapv:UnspecifiedMatching +DOID:0070583 spermatogenic failure 84 skos:exactMatch OMIM:620409 semapv:UnspecifiedMatching +DOID:0070584 spermatogenic failure 85 oboInOwl:hasDbXref OMIM:620490 semapv:UnspecifiedMatching +DOID:0070584 spermatogenic failure 85 skos:exactMatch OMIM:620490 semapv:UnspecifiedMatching +DOID:0070585 spermatogenic failure 86 oboInOwl:hasDbXref OMIM:620499 semapv:UnspecifiedMatching +DOID:0070585 spermatogenic failure 86 skos:exactMatch OMIM:620499 semapv:UnspecifiedMatching +DOID:0070586 spermatogenic failure 87 oboInOwl:hasDbXref OMIM:620500 semapv:UnspecifiedMatching +DOID:0070586 spermatogenic failure 87 skos:exactMatch OMIM:620500 semapv:UnspecifiedMatching +DOID:0070587 spermatogenic failure 88 oboInOwl:hasDbXref OMIM:620547 semapv:UnspecifiedMatching +DOID:0070587 spermatogenic failure 88 skos:exactMatch OMIM:620547 semapv:UnspecifiedMatching +DOID:0070588 spermatogenic failure 89 oboInOwl:hasDbXref OMIM:620705 semapv:UnspecifiedMatching +DOID:0070588 spermatogenic failure 89 skos:exactMatch OMIM:620705 semapv:UnspecifiedMatching +DOID:0070589 spermatogenic failure 90 oboInOwl:hasDbXref OMIM:620744 semapv:UnspecifiedMatching +DOID:0070589 spermatogenic failure 90 skos:exactMatch OMIM:620744 semapv:UnspecifiedMatching +DOID:0070590 spermatogenic failure 91 oboInOwl:hasDbXref OMIM:620838 semapv:UnspecifiedMatching +DOID:0070590 spermatogenic failure 91 skos:exactMatch OMIM:620838 semapv:UnspecifiedMatching +DOID:0070591 spermatogenic failure 92 oboInOwl:hasDbXref OMIM:620848 semapv:UnspecifiedMatching +DOID:0070591 spermatogenic failure 92 skos:exactMatch OMIM:620848 semapv:UnspecifiedMatching +DOID:0070592 spermatogenic failure 93 oboInOwl:hasDbXref OMIM:620849 semapv:UnspecifiedMatching +DOID:0070592 spermatogenic failure 93 skos:exactMatch OMIM:620849 semapv:UnspecifiedMatching +DOID:0070593 spermatogenic failure 94 oboInOwl:hasDbXref OMIM:620850 semapv:UnspecifiedMatching +DOID:0070593 spermatogenic failure 94 skos:exactMatch OMIM:620850 semapv:UnspecifiedMatching +DOID:0070594 spermatogenic failure 95 oboInOwl:hasDbXref OMIM:620917 semapv:UnspecifiedMatching +DOID:0070594 spermatogenic failure 95 skos:exactMatch OMIM:620917 semapv:UnspecifiedMatching +DOID:0070595 X-linked spermatogenic failure 4 oboInOwl:hasDbXref OMIM:301077 semapv:UnspecifiedMatching +DOID:0070595 X-linked spermatogenic failure 4 skos:exactMatch OMIM:301077 semapv:UnspecifiedMatching +DOID:0070596 X-linked spermatogenic failure 5 oboInOwl:hasDbXref OMIM:301099 semapv:UnspecifiedMatching +DOID:0070596 X-linked spermatogenic failure 5 skos:exactMatch OMIM:301099 semapv:UnspecifiedMatching +DOID:0070597 X-linked spermatogenic failure 6 oboInOwl:hasDbXref OMIM:301101 semapv:UnspecifiedMatching +DOID:0070597 X-linked spermatogenic failure 6 skos:exactMatch OMIM:301101 semapv:UnspecifiedMatching +DOID:0070598 X-linked spermatogenic failure 7 oboInOwl:hasDbXref OMIM:301106 semapv:UnspecifiedMatching +DOID:0070598 X-linked spermatogenic failure 7 skos:exactMatch OMIM:301106 semapv:UnspecifiedMatching +DOID:0070599 X-linked spermatogenic failure 8 oboInOwl:hasDbXref OMIM:301119 semapv:UnspecifiedMatching +DOID:0070599 X-linked spermatogenic failure 8 skos:exactMatch OMIM:301119 semapv:UnspecifiedMatching DOID:0080001 bone disease oboInOwl:hasDbXref ICD10CM:M89.9 semapv:UnspecifiedMatching DOID:0080001 bone disease oboInOwl:hasDbXref MESH:D001847 semapv:UnspecifiedMatching DOID:0080001 bone disease oboInOwl:hasDbXref UMLS:C0005940 semapv:UnspecifiedMatching @@ -8950,8 +9018,7 @@ DOID:0081162 dilated cardiomyopathy 2F oboInOwl:hasDbXref OMIM:619747 semapv:Uns DOID:0081162 dilated cardiomyopathy 2F skos:exactMatch OMIM:619747 semapv:UnspecifiedMatching DOID:0081163 dilated cardiomyopathy 2G oboInOwl:hasDbXref OMIM:619897 semapv:UnspecifiedMatching DOID:0081163 dilated cardiomyopathy 2G skos:exactMatch OMIM:619897 semapv:UnspecifiedMatching -DOID:0081164 dilated cardiomyopathy 3B oboInOwl:hasDbXref OMIM:302045 semapv:UnspecifiedMatching -DOID:0081164 dilated cardiomyopathy 3B skos:exactMatch OMIM:302045 semapv:UnspecifiedMatching +DOID:0081164 obsolete dilated cardiomyopathy 3B oboInOwl:hasDbXref OMIM:302045 semapv:UnspecifiedMatching DOID:0081168 HMG-CoA synthase 2 deficiency oboInOwl:hasDbXref GARD:2712 semapv:UnspecifiedMatching DOID:0081168 HMG-CoA synthase 2 deficiency oboInOwl:hasDbXref OMIM:605911 semapv:UnspecifiedMatching DOID:0081168 HMG-CoA synthase 2 deficiency oboInOwl:hasDbXref ORDO:35701 semapv:UnspecifiedMatching @@ -9737,10 +9804,10 @@ DOID:0090042 torsion dystonia 17 oboInOwl:hasDbXref ICD10CM:G24.1 semapv:Unspeci DOID:0090042 torsion dystonia 17 oboInOwl:hasDbXref OMIM:612406 semapv:UnspecifiedMatching DOID:0090042 torsion dystonia 17 oboInOwl:hasDbXref ORDO:370103 semapv:UnspecifiedMatching DOID:0090042 torsion dystonia 17 skos:exactMatch OMIM:612406 semapv:UnspecifiedMatching -DOID:0090043 dystonia 5 oboInOwl:hasDbXref ICD10CM:G24.1 semapv:UnspecifiedMatching -DOID:0090043 dystonia 5 oboInOwl:hasDbXref OMIM:128230 semapv:UnspecifiedMatching -DOID:0090043 dystonia 5 oboInOwl:hasDbXref ORDO:98808 semapv:UnspecifiedMatching -DOID:0090043 dystonia 5 skos:exactMatch OMIM:128230 semapv:UnspecifiedMatching +DOID:0090043 dopa-responsive dystonia oboInOwl:hasDbXref ICD10CM:G24.1 semapv:UnspecifiedMatching +DOID:0090043 dopa-responsive dystonia oboInOwl:hasDbXref OMIM:128230 semapv:UnspecifiedMatching +DOID:0090043 dopa-responsive dystonia oboInOwl:hasDbXref ORDO:98808 semapv:UnspecifiedMatching +DOID:0090043 dopa-responsive dystonia skos:exactMatch OMIM:128230 semapv:UnspecifiedMatching DOID:0090044 dystonia 9 oboInOwl:hasDbXref ICD10CM:G24.8 semapv:UnspecifiedMatching DOID:0090044 dystonia 9 oboInOwl:hasDbXref OMIM:601042 semapv:UnspecifiedMatching DOID:0090044 dystonia 9 oboInOwl:hasDbXref ORDO:53583 semapv:UnspecifiedMatching @@ -12009,9 +12076,6 @@ DOID:0110576 autosomal dominant nonsyndromic deafness 50 skos:exactMatch OMIM:61 DOID:0110577 autosomal dominant nonsyndromic deafness 51 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110577 autosomal dominant nonsyndromic deafness 51 oboInOwl:hasDbXref OMIM:613558 semapv:UnspecifiedMatching DOID:0110577 autosomal dominant nonsyndromic deafness 51 skos:exactMatch OMIM:613558 semapv:UnspecifiedMatching -DOID:0110578 autosomal dominant nonsyndromic deafness 52 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110578 autosomal dominant nonsyndromic deafness 52 oboInOwl:hasDbXref OMIM:607683 semapv:UnspecifiedMatching -DOID:0110578 autosomal dominant nonsyndromic deafness 52 skos:exactMatch OMIM:607683 semapv:UnspecifiedMatching DOID:0110579 autosomal dominant nonsyndromic deafness 53 oboInOwl:hasDbXref GARD:9934 semapv:UnspecifiedMatching DOID:0110579 autosomal dominant nonsyndromic deafness 53 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110579 autosomal dominant nonsyndromic deafness 53 oboInOwl:hasDbXref OMIM:609965 semapv:UnspecifiedMatching @@ -12911,10 +12975,8 @@ DOID:0110861 autosomal recessive polycystic kidney disease oboInOwl:hasDbXref IC DOID:0110861 autosomal recessive polycystic kidney disease oboInOwl:hasDbXref ICD9CM:753.14 semapv:UnspecifiedMatching DOID:0110861 autosomal recessive polycystic kidney disease oboInOwl:hasDbXref MESH:D017044 semapv:UnspecifiedMatching DOID:0110861 autosomal recessive polycystic kidney disease oboInOwl:hasDbXref NCI:C84579 semapv:UnspecifiedMatching -DOID:0110861 autosomal recessive polycystic kidney disease oboInOwl:hasDbXref OMIM:263200 semapv:UnspecifiedMatching DOID:0110861 autosomal recessive polycystic kidney disease oboInOwl:hasDbXref ORDO:731 semapv:UnspecifiedMatching DOID:0110861 autosomal recessive polycystic kidney disease oboInOwl:hasDbXref UMLS:C0085548 semapv:UnspecifiedMatching -DOID:0110861 autosomal recessive polycystic kidney disease skos:exactMatch OMIM:263200 semapv:UnspecifiedMatching DOID:0110862 congenital stationary night blindness autosomal dominant 1 oboInOwl:hasDbXref OMIM:610445 semapv:UnspecifiedMatching DOID:0110862 congenital stationary night blindness autosomal dominant 1 skos:exactMatch OMIM:610445 semapv:UnspecifiedMatching DOID:0110863 congenital stationary night blindness autosomal dominant 2 oboInOwl:hasDbXref OMIM:163500 semapv:UnspecifiedMatching @@ -31590,7 +31652,6 @@ DOID:4871 cutaneous adenocystic carcinoma oboInOwl:hasDbXref UMLS:C0346017 semap DOID:4872 lung adenoid cystic carcinoma oboInOwl:hasDbXref NCI:C5666 semapv:UnspecifiedMatching DOID:4872 lung adenoid cystic carcinoma oboInOwl:hasDbXref UMLS:C1334439 semapv:UnspecifiedMatching DOID:4873 anterior horn cell disease oboInOwl:hasDbXref ICD9CM:335 semapv:UnspecifiedMatching -DOID:4873 anterior horn cell disease oboInOwl:hasDbXref MESH:D016472 semapv:UnspecifiedMatching DOID:4873 anterior horn cell disease oboInOwl:hasDbXref UMLS:C0154681 semapv:UnspecifiedMatching DOID:4875 trachea adenoid cystic carcinoma oboInOwl:hasDbXref NCI:C6051 semapv:UnspecifiedMatching DOID:4875 trachea adenoid cystic carcinoma oboInOwl:hasDbXref UMLS:C0345945 semapv:UnspecifiedMatching @@ -37034,7 +37095,7 @@ DOID:8970 subacute sclerosing panencephalitis oboInOwl:hasDbXref NCI:C85171 sema DOID:8970 subacute sclerosing panencephalitis oboInOwl:hasDbXref OMIM:260470 semapv:UnspecifiedMatching DOID:8970 subacute sclerosing panencephalitis oboInOwl:hasDbXref UMLS:C0038522 semapv:UnspecifiedMatching DOID:8970 subacute sclerosing panencephalitis skos:exactMatch OMIM:260470 semapv:UnspecifiedMatching -DOID:898 autosomal dominant polycystic kidney disease oboInOwl:hasDbXref GARD:7419 semapv:UnspecifiedMatching +DOID:898 autosomal dominant polycystic kidney disease oboInOwl:hasDbXref GARD:10413 semapv:UnspecifiedMatching DOID:898 autosomal dominant polycystic kidney disease oboInOwl:hasDbXref ICD10CM:Q61.3 semapv:UnspecifiedMatching DOID:898 autosomal dominant polycystic kidney disease oboInOwl:hasDbXref ICD9CM:753.12 semapv:UnspecifiedMatching DOID:898 autosomal dominant polycystic kidney disease oboInOwl:hasDbXref MESH:D007690 semapv:UnspecifiedMatching diff --git a/src/mappings/gard.sssom.tsv b/src/mappings/gard.sssom.tsv index 26228a006..4db6d7ec9 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/5daf97f4-68b9-4663-803f-c7685abe5307 +# mapping_set_id: https://w3id.org/sssom/mappings/96a526a9-fed4-44fb-9815-823aa5c50b43 subject_id subject_label predicate_id object_id mapping_justification obo:GARD_1 GRACILE syndrome skos:exactMatch Orphanet:53693 semapv:UnspecifiedMatching obo:GARD_1 GRACILE syndrome skos:narrowMatch OMIM:603358 semapv:UnspecifiedMatching diff --git a/src/mappings/icd10cm.sssom.tsv b/src/mappings/icd10cm.sssom.tsv index 5c00be019..518642548 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/140043b1-6810-4175-9c5e-6d2f4bfd094f +# mapping_set_id: https://w3id.org/sssom/mappings/029618b3-0fc6-42dd-8fde-476d62becd23 diff --git a/src/mappings/icd10who.sssom.tsv b/src/mappings/icd10who.sssom.tsv index 55a8c3534..8b4ca7af2 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/c9090ba9-94d0-4e3f-b8f9-fa782e299f30 +# mapping_set_id: https://w3id.org/sssom/mappings/d9af3432-3654-4228-b762-7d9f9fbda536 diff --git a/src/mappings/icd11foundation.sssom.tsv b/src/mappings/icd11foundation.sssom.tsv index 325a6da25..5b5423010 100644 --- a/src/mappings/icd11foundation.sssom.tsv +++ b/src/mappings/icd11foundation.sssom.tsv @@ -6,6 +6,6 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified -# mapping_set_id: https://w3id.org/sssom/mappings/16689baf-846f-42a5-a279-d638db3ae39c +# mapping_set_id: https://w3id.org/sssom/mappings/0599b5ca-b47c-4b88-a393-f64cadfc9a16 diff --git a/src/mappings/mondo-nando.sssom.tsv b/src/mappings/mondo-nando.sssom.tsv index 7022b04a3..c6834ed39 100644 --- a/src/mappings/mondo-nando.sssom.tsv +++ b/src/mappings/mondo-nando.sssom.tsv @@ -15,7 +15,7 @@ # mapping_provider: MONDO:NANDO # mapping_set_description: This mapping set is manually curated by the NANDO team at # nanbyodata.jp. -# mapping_set_id: https://w3id.org/sssom/mappings/b1e7cc0f-10b9-4aa1-a135-203332856a6b +# mapping_set_id: https://w3id.org/sssom/mappings/7198bf2f-feb0-438e-81e0-9100722b08c1 # mapping_set_title: NANDO - Mondo mappings provided by nanbyodata.jp subject_id subject_label predicate_id object_id object_label mapping_justification MONDO:0000050 isolated congenital growth hormone deficiency skos:closeMatch NANDO:2200317 Congenital growth hormone deficiency semapv:MappingInversion diff --git a/src/mappings/ncit.sssom.tsv b/src/mappings/ncit.sssom.tsv index 0a6727896..0d85010c8 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/6af032cd-2805-4a32-b1c0-174ed6a2fc45 +# mapping_set_id: https://w3id.org/sssom/mappings/314636b0-e79b-43f8-bab0-cebd81778b0b subject_id subject_label predicate_id object_id mapping_justification NCIT:C103222 Popliteal Fossa oboInOwl:hasDbXref UBERON:0013069 semapv:UnspecifiedMatching NCIT:C103384 Common Iliac Lymph Node oboInOwl:hasDbXref UBERON:0015878 semapv:UnspecifiedMatching diff --git a/src/mappings/omim.sssom.tsv b/src/mappings/omim.sssom.tsv index 5ef39ccf0..f8a049a5c 100644 --- a/src/mappings/omim.sssom.tsv +++ b/src/mappings/omim.sssom.tsv @@ -3755,7 +3755,7 @@ MONDO:0010853 skos:exactMatch OMIM:600263 helicobacter pylori infection, suscep MONDO:0010854 skos:exactMatch OMIM:600268 oculoectodermal syndrome semapv:UnspecifiedMatching MONDO:0010855 skos:exactMatch OMIM:600269 short tarsus with absence of lower eyelashes semapv:UnspecifiedMatching MONDO:0010856 skos:exactMatch OMIM:600273 polycystic kidney disease, infantile severe, with tuberous sclerosis semapv:UnspecifiedMatching -MONDO:0010857 skos:exactMatch OMIM:600274 frontotemporal dementia semapv:UnspecifiedMatching +MONDO:0010857 skos:exactMatch OMIM:600274 frontotemporal dementia 1 semapv:UnspecifiedMatching MONDO:0010858 skos:exactMatch OMIM:600302 fryns macrocephaly semapv:UnspecifiedMatching MONDO:0010859 skos:exactMatch OMIM:600309 semapv:UnspecifiedMatching MONDO:0010860 skos:exactMatch OMIM:600316 deafness, autosomal recessive 3 semapv:UnspecifiedMatching @@ -4682,7 +4682,7 @@ MONDO:0011838 skos:exactMatch OMIM:607475 bothnia retinal dystrophy semapv:Unsp MONDO:0011839 skos:exactMatch OMIM:607476 newfoundland rod-cone dystrophy semapv:UnspecifiedMatching MONDO:0011840 skos:exactMatch OMIM:607482 cardiomyopathy, dilated, 1m semapv:UnspecifiedMatching MONDO:0011841 skos:exactMatch OMIM:607483 basal ganglia disease, biotin-thiamine responsive semapv:UnspecifiedMatching -MONDO:0011842 skos:exactMatch OMIM:607485 frontotemporal lobar degeneration with tdp43 inclusions, grn-related semapv:UnspecifiedMatching +MONDO:0011842 skos:exactMatch OMIM:607485 frontotemporal dementia 2 semapv:UnspecifiedMatching MONDO:0011843 skos:exactMatch OMIM:607487 cardiomyopathy, familial hypertrophic, 25 semapv:UnspecifiedMatching MONDO:0011844 skos:exactMatch OMIM:607488 dystonia 15, myoclonic semapv:UnspecifiedMatching MONDO:0011845 skos:exactMatch OMIM:607498 migraine with or without aura, susceptibility to, 3 semapv:UnspecifiedMatching @@ -4984,7 +4984,7 @@ MONDO:0012159 skos:exactMatch OMIM:608935 lung cancer susceptibility 1 semapv:U MONDO:0012160 skos:exactMatch OMIM:608940 spondylometaphyseal dysplasia with cone-rod dystrophy semapv:UnspecifiedMatching MONDO:0012161 skos:exactMatch OMIM:608957 immunodeficiency 116 semapv:UnspecifiedMatching MONDO:0012162 skos:exactMatch OMIM:608970 macular dystrophy, patterned, 2 semapv:UnspecifiedMatching -MONDO:0012163 skos:exactMatch OMIM:608971 immunodeficiency 104 semapv:UnspecifiedMatching +MONDO:0012163 skos:exactMatch OMIM:608971 immunodeficiency 104, severe combined semapv:UnspecifiedMatching MONDO:0012164 skos:exactMatch OMIM:608978 meacham syndrome semapv:UnspecifiedMatching MONDO:0012165 skos:exactMatch OMIM:608980 bifid nose with or without anorectal and renal anomalies semapv:UnspecifiedMatching MONDO:0012166 skos:exactMatch OMIM:608984 ataxia, sensory, 1, autosomal dominant semapv:UnspecifiedMatching @@ -5455,7 +5455,7 @@ MONDO:0012644 skos:exactMatch OMIM:611263 short-rib thoracic dysplasia 2 with o MONDO:0012645 skos:exactMatch OMIM:611274 glaucoma 1, open angle, n semapv:UnspecifiedMatching MONDO:0012646 skos:exactMatch OMIM:611276 glaucoma 1, open angle, h semapv:UnspecifiedMatching MONDO:0012648 skos:exactMatch OMIM:611283 isobutyryl-coa dehydrogenase deficiency semapv:UnspecifiedMatching -MONDO:0012650 skos:exactMatch OMIM:611291 immunodeficiency 124 semapv:UnspecifiedMatching +MONDO:0012650 skos:exactMatch OMIM:611291 immunodeficiency 124, severe combined semapv:UnspecifiedMatching MONDO:0012651 skos:exactMatch OMIM:611302 spastic ataxia 2, autosomal recessive semapv:UnspecifiedMatching MONDO:0012652 skos:exactMatch OMIM:611307 muscular dystrophy, limb-girdle, autosomal recessive 12 semapv:UnspecifiedMatching MONDO:0012653 skos:exactMatch OMIM:611308 persistent hyperplastic primary vitreous, autosomal dominant semapv:UnspecifiedMatching @@ -7042,7 +7042,7 @@ MONDO:0014275 skos:exactMatch OMIM:615605 fanconi renotubular syndrome 3 semapv MONDO:0014276 skos:exactMatch OMIM:615607 immunodeficiency 17 semapv:UnspecifiedMatching MONDO:0014277 skos:exactMatch OMIM:615612 developmental dysplasia of the hip 2 semapv:UnspecifiedMatching MONDO:0014278 skos:exactMatch OMIM:615615 immunodeficiency 18 semapv:UnspecifiedMatching -MONDO:0014280 skos:exactMatch OMIM:615617 immunodeficiency 19 semapv:UnspecifiedMatching +MONDO:0014280 skos:exactMatch OMIM:615617 immunodeficiency 19, severe combined semapv:UnspecifiedMatching MONDO:0014281 skos:exactMatch OMIM:615619 cholangiocarcinoma, susceptibility to semapv:UnspecifiedMatching MONDO:0014282 skos:exactMatch OMIM:615625 spastic paraplegia 72a, autosomal dominant semapv:UnspecifiedMatching MONDO:0014283 skos:exactMatch OMIM:615629 deafness, autosomal dominant 56 semapv:UnspecifiedMatching @@ -7241,7 +7241,7 @@ MONDO:0014477 skos:exactMatch OMIM:616056 developmental and epileptic encephalo MONDO:0014478 skos:exactMatch OMIM:616059 mirror movements 3 semapv:UnspecifiedMatching MONDO:0014479 skos:exactMatch OMIM:616063 porokeratosis 8, disseminated superficial actinic type semapv:UnspecifiedMatching MONDO:0014480 skos:exactMatch OMIM:616067 46,xy sex reversal 9 semapv:UnspecifiedMatching -MONDO:0014481 skos:exactMatch OMIM:616069 inflammatory skin and bowel disease, neonatal, 2 semapv:UnspecifiedMatching +MONDO:0014481 skos:exactMatch OMIM:616069 neonatal nephrocutaneous inflammatory syndrome semapv:UnspecifiedMatching MONDO:0014482 skos:exactMatch OMIM:616078 intellectual developmental disorder, autosomal dominant 29 semapv:UnspecifiedMatching MONDO:0014483 skos:exactMatch OMIM:616079 retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities semapv:UnspecifiedMatching MONDO:0014484 skos:exactMatch OMIM:616080 microcephaly 12, primary, autosomal recessive semapv:UnspecifiedMatching @@ -7724,7 +7724,7 @@ MONDO:0014977 skos:exactMatch OMIM:617232 muscular dystrophy, limb-girdle, auto MONDO:0014978 skos:exactMatch OMIM:617234 oocyte/zygote/embryo maturation arrest 16 semapv:UnspecifiedMatching MONDO:0014979 skos:exactMatch OMIM:617235 myoclonus, intractable, neonatal semapv:UnspecifiedMatching MONDO:0014980 skos:exactMatch omim.ps:617236 Cone-rod dystrophy and hearing loss semapv:UnspecifiedMatching -MONDO:0014981 skos:exactMatch OMIM:617237 immunodeficiency 49 semapv:UnspecifiedMatching +MONDO:0014981 skos:exactMatch OMIM:617237 immunodeficiency 49, severe combined semapv:UnspecifiedMatching MONDO:0014982 skos:exactMatch OMIM:617238 myopia 25, autosomal dominant semapv:UnspecifiedMatching MONDO:0014983 skos:exactMatch OMIM:617239 myasthenic syndrome, congenital, 21, presynaptic semapv:UnspecifiedMatching MONDO:0014984 skos:exactMatch OMIM:617241 lung disease, immunodeficiency, and chromosome breakage syndrome semapv:UnspecifiedMatching @@ -7891,7 +7891,7 @@ MONDO:0017359 skos:exactMatch omim.ps:250950 3-Methylglutaconic aciduria semapv MONDO:0017380 skos:exactMatch OMIM:174900 juvenile polyposis syndrome semapv:UnspecifiedMatching MONDO:0017398 skos:exactMatch omim.ps:257920 3MC syndrome semapv:UnspecifiedMatching MONDO:0017400 skos:exactMatch OMIM:615710 mitchell-riley syndrome semapv:UnspecifiedMatching -MONDO:0017411 skos:exactMatch omim.ps:614328 Neonatal inflammatory skin and bowel disease semapv:UnspecifiedMatching +MONDO:0017411 skos:exactMatch omim.ps:614328 semapv:UnspecifiedMatching MONDO:0017417 skos:exactMatch omim.ps:208540 Renal-hepatic-pancreatic dysplasia semapv:UnspecifiedMatching MONDO:0017425 skos:exactMatch omim.ps:174400 Polydactyly, preaxial semapv:UnspecifiedMatching MONDO:0017436 skos:exactMatch omim.ps:253310 Lethal congenital contracture syndrome semapv:UnspecifiedMatching @@ -8994,7 +8994,7 @@ MONDO:0032707 skos:exactMatch OMIM:618371 turnpenny-fry syndrome semapv:Unspeci MONDO:0032710 skos:exactMatch OMIM:618374 developmental and epileptic encephalopathy 72 semapv:UnspecifiedMatching MONDO:0032712 skos:exactMatch OMIM:618378 combined oxidative phosphorylation deficiency 38 semapv:UnspecifiedMatching MONDO:0032714 skos:exactMatch OMIM:618381 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome semapv:UnspecifiedMatching -MONDO:0032715 skos:exactMatch OMIM:618383 intellectual developmental disorder, autosomal recessive 69 semapv:UnspecifiedMatching +MONDO:0032715 skos:exactMatch OMIM:618383 neurodevelopmental disorder with progressive movement abnormalities, cognitive decline, and brain abnormalities semapv:UnspecifiedMatching MONDO:0032716 skos:exactMatch OMIM:618384 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate semapv:UnspecifiedMatching MONDO:0032717 skos:exactMatch OMIM:618386 amelogenesis imperfecta, type 3c semapv:UnspecifiedMatching MONDO:0032721 skos:exactMatch OMIM:618392 spondyloepiphyseal dysplasia, kondo-fu type semapv:UnspecifiedMatching @@ -9827,7 +9827,7 @@ MONDO:0800045 skos:exactMatch OMIM:616744 autoinflammatory syndrome, familial, MONDO:0800046 skos:exactMatch OMIM:609698 thyroid hormone metabolism, abnormal, 1 semapv:UnspecifiedMatching MONDO:0800047 skos:exactMatch OMIM:613112 macrothrombocytopenia, isolated, 1, autosomal dominant semapv:UnspecifiedMatching MONDO:0800103 skos:exactMatch OMIM:216360 coach syndrome 1 semapv:UnspecifiedMatching -MONDO:0800104 skos:exactMatch OMIM:619924 immunodeficiency 105 semapv:UnspecifiedMatching +MONDO:0800104 skos:exactMatch OMIM:619924 immunodeficiency 105, severe combined semapv:UnspecifiedMatching MONDO:0800129 skos:exactMatch OMIM:301081 autoinflammatory disease, systemic, X-linked semapv:UnspecifiedMatching MONDO:0800130 skos:exactMatch OMIM:619375 autoinflammatory syndrome, familial, with or without immunodeficiency semapv:UnspecifiedMatching MONDO:0800131 skos:exactMatch OMIM:619752 hyper-ige syndrome 4a, autosomal dominant, with recurrent infections semapv:UnspecifiedMatching @@ -19878,8 +19878,8 @@ OMIM:187380 TNC skos:exactMatch hgnc.symbol:5318 semapv:UnspecifiedMatching OMIM:187380 TNC skos:exactMatch hgnc.symbol:TNC semapv:UnspecifiedMatching OMIM:187380 TNC skos:exactMatch ncbigene:3371 semapv:UnspecifiedMatching OMIM:187390 tendons, extensor, of fingers, anomalous insertion of skos:exactMatch MONDO:0008540 semapv:UnspecifiedMatching -OMIM:187395 TDGF1 skos:exactMatch hgnc.symbol:CRIPTO semapv:UnspecifiedMatching -OMIM:187395 TDGF1 skos:exactMatch ncbigene:6997 semapv:UnspecifiedMatching +OMIM:187395 CRIPTO skos:exactMatch hgnc.symbol:CRIPTO semapv:UnspecifiedMatching +OMIM:187395 CRIPTO skos:exactMatch ncbigene:6997 semapv:UnspecifiedMatching OMIM:187400 testicular torsion skos:exactMatch MONDO:0008541 semapv:UnspecifiedMatching OMIM:187410 DNTT skos:exactMatch hgnc.symbol:2983 semapv:UnspecifiedMatching OMIM:187410 DNTT skos:exactMatch hgnc.symbol:DNTT semapv:UnspecifiedMatching @@ -27562,13 +27562,13 @@ OMIM:600272 COIL skos:exactMatch hgnc.symbol:2184 semapv:UnspecifiedMatching OMIM:600272 COIL skos:exactMatch hgnc.symbol:COIL semapv:UnspecifiedMatching OMIM:600272 COIL skos:exactMatch ncbigene:8161 semapv:UnspecifiedMatching OMIM:600273 polycystic kidney disease, infantile severe, with tuberous sclerosis skos:exactMatch MONDO:0010856 semapv:UnspecifiedMatching -OMIM:600274 frontotemporal dementia skos:exactMatch MONDO:0010857 semapv:UnspecifiedMatching -OMIM:600274 frontotemporal dementia skos:exactMatch Orphanet:100069 semapv:UnspecifiedMatching -OMIM:600274 frontotemporal dementia skos:exactMatch Orphanet:100070 semapv:UnspecifiedMatching -OMIM:600274 frontotemporal dementia skos:exactMatch Orphanet:275864 semapv:UnspecifiedMatching -OMIM:600274 frontotemporal dementia skos:exactMatch Orphanet:282 semapv:UnspecifiedMatching -OMIM:600274 frontotemporal dementia skos:exactMatch UMLS:C0338451 semapv:UnspecifiedMatching -OMIM:600274 frontotemporal dementia skos:exactMatch UMLS:C0520716 semapv:UnspecifiedMatching +OMIM:600274 frontotemporal dementia 1 skos:exactMatch MONDO:0010857 semapv:UnspecifiedMatching +OMIM:600274 frontotemporal dementia 1 skos:exactMatch Orphanet:100069 semapv:UnspecifiedMatching +OMIM:600274 frontotemporal dementia 1 skos:exactMatch Orphanet:100070 semapv:UnspecifiedMatching +OMIM:600274 frontotemporal dementia 1 skos:exactMatch Orphanet:275864 semapv:UnspecifiedMatching +OMIM:600274 frontotemporal dementia 1 skos:exactMatch Orphanet:282 semapv:UnspecifiedMatching +OMIM:600274 frontotemporal dementia 1 skos:exactMatch UMLS:C0338451 semapv:UnspecifiedMatching +OMIM:600274 frontotemporal dementia 1 skos:exactMatch UMLS:C0520716 semapv:UnspecifiedMatching OMIM:600275 NOTCH2 skos:exactMatch hgnc.symbol:7882 semapv:UnspecifiedMatching OMIM:600275 NOTCH2 skos:exactMatch hgnc.symbol:NOTCH2 semapv:UnspecifiedMatching OMIM:600275 NOTCH2 skos:exactMatch ncbigene:4853 semapv:UnspecifiedMatching @@ -45579,12 +45579,12 @@ OMIM:606640 amyotrophic lateral sclerosis 3 skos:exactMatch MONDO:0011691 semap OMIM:606644 IGSF8 skos:exactMatch hgnc.symbol:17813 semapv:UnspecifiedMatching OMIM:606644 IGSF8 skos:exactMatch hgnc.symbol:IGSF8 semapv:UnspecifiedMatching OMIM:606644 IGSF8 skos:exactMatch ncbigene:93185 semapv:UnspecifiedMatching -OMIM:606645 CENTD1 skos:exactMatch hgnc.symbol:16924 semapv:UnspecifiedMatching -OMIM:606645 CENTD1 skos:exactMatch hgnc.symbol:ARAP2 semapv:UnspecifiedMatching -OMIM:606645 CENTD1 skos:exactMatch ncbigene:116984 semapv:UnspecifiedMatching -OMIM:606646 CENTD2 skos:exactMatch hgnc.symbol:16925 semapv:UnspecifiedMatching -OMIM:606646 CENTD2 skos:exactMatch hgnc.symbol:ARAP1 semapv:UnspecifiedMatching -OMIM:606646 CENTD2 skos:exactMatch ncbigene:116985 semapv:UnspecifiedMatching +OMIM:606645 ARAP2 skos:exactMatch hgnc.symbol:16924 semapv:UnspecifiedMatching +OMIM:606645 ARAP2 skos:exactMatch hgnc.symbol:ARAP2 semapv:UnspecifiedMatching +OMIM:606645 ARAP2 skos:exactMatch ncbigene:116984 semapv:UnspecifiedMatching +OMIM:606646 ARAP1 skos:exactMatch hgnc.symbol:16925 semapv:UnspecifiedMatching +OMIM:606646 ARAP1 skos:exactMatch hgnc.symbol:ARAP1 semapv:UnspecifiedMatching +OMIM:606646 ARAP1 skos:exactMatch ncbigene:116985 semapv:UnspecifiedMatching OMIM:606647 CENTD3 skos:exactMatch hgnc.symbol:24097 semapv:UnspecifiedMatching OMIM:606647 CENTD3 skos:exactMatch hgnc.symbol:ARAP3 semapv:UnspecifiedMatching OMIM:606647 CENTD3 skos:exactMatch ncbigene:64411 semapv:UnspecifiedMatching @@ -47965,7 +47965,7 @@ OMIM:607484 PARD6A skos:exactMatch UMLS:C1335190 semapv:UnspecifiedMatching OMIM:607484 PARD6A skos:exactMatch hgnc.symbol:15943 semapv:UnspecifiedMatching OMIM:607484 PARD6A skos:exactMatch hgnc.symbol:PARD6A semapv:UnspecifiedMatching OMIM:607484 PARD6A skos:exactMatch ncbigene:50855 semapv:UnspecifiedMatching -OMIM:607485 frontotemporal lobar degeneration with tdp43 inclusions, grn-related skos:exactMatch MONDO:0011842 semapv:UnspecifiedMatching +OMIM:607485 frontotemporal dementia 2 skos:exactMatch MONDO:0011842 semapv:UnspecifiedMatching OMIM:607487 cardiomyopathy, familial hypertrophic, 25 skos:exactMatch MONDO:0011843 semapv:UnspecifiedMatching OMIM:607488 dystonia 15, myoclonic skos:exactMatch MONDO:0011844 semapv:UnspecifiedMatching OMIM:607489 CUL9 skos:exactMatch hgnc.symbol:15982 semapv:UnspecifiedMatching @@ -49765,9 +49765,9 @@ OMIM:608117 PDE4DIP skos:exactMatch hgnc.symbol:15580 semapv:UnspecifiedMatchin OMIM:608117 PDE4DIP skos:exactMatch hgnc.symbol:PDE4DIP semapv:UnspecifiedMatching OMIM:608117 PDE4DIP skos:exactMatch ncbigene:9659 semapv:UnspecifiedMatching OMIM:608118 zinc deficiency, transient neonatal skos:exactMatch MONDO:0011973 semapv:UnspecifiedMatching -OMIM:608119 homeodomain leucine zipper-containing factor skos:exactMatch hgnc.symbol:20164 semapv:UnspecifiedMatching -OMIM:608119 homeodomain leucine zipper-containing factor skos:exactMatch hgnc.symbol:HOMEZ semapv:UnspecifiedMatching -OMIM:608119 homeodomain leucine zipper-containing factor skos:exactMatch ncbigene:57594 semapv:UnspecifiedMatching +OMIM:608119 HOMEZ skos:exactMatch hgnc.symbol:20164 semapv:UnspecifiedMatching +OMIM:608119 HOMEZ skos:exactMatch hgnc.symbol:HOMEZ semapv:UnspecifiedMatching +OMIM:608119 HOMEZ skos:exactMatch ncbigene:57594 semapv:UnspecifiedMatching OMIM:608120 PARVA skos:exactMatch hgnc.symbol:14652 semapv:UnspecifiedMatching OMIM:608120 PARVA skos:exactMatch hgnc.symbol:PARVA semapv:UnspecifiedMatching OMIM:608120 PARVA skos:exactMatch ncbigene:55742 semapv:UnspecifiedMatching @@ -50123,9 +50123,9 @@ OMIM:608237 GAL3ST2 skos:exactMatch ncbigene:64090 semapv:UnspecifiedMatching OMIM:608238 SPPL2A skos:exactMatch hgnc.symbol:30227 semapv:UnspecifiedMatching OMIM:608238 SPPL2A skos:exactMatch hgnc.symbol:SPPL2A semapv:UnspecifiedMatching OMIM:608238 SPPL2A skos:exactMatch ncbigene:84888 semapv:UnspecifiedMatching -OMIM:608239 signal peptide peptidase-like 2b skos:exactMatch hgnc.symbol:30627 semapv:UnspecifiedMatching -OMIM:608239 signal peptide peptidase-like 2b skos:exactMatch hgnc.symbol:SPPL2B semapv:UnspecifiedMatching -OMIM:608239 signal peptide peptidase-like 2b skos:exactMatch ncbigene:56928 semapv:UnspecifiedMatching +OMIM:608239 SPPL2B skos:exactMatch hgnc.symbol:30627 semapv:UnspecifiedMatching +OMIM:608239 SPPL2B skos:exactMatch hgnc.symbol:SPPL2B semapv:UnspecifiedMatching +OMIM:608239 SPPL2B skos:exactMatch ncbigene:56928 semapv:UnspecifiedMatching OMIM:608240 SPPL3 skos:exactMatch UMLS:C1842354 semapv:UnspecifiedMatching OMIM:608240 SPPL3 skos:exactMatch hgnc.symbol:30424 semapv:UnspecifiedMatching OMIM:608240 SPPL3 skos:exactMatch hgnc.symbol:SPPL3 semapv:UnspecifiedMatching @@ -50490,6 +50490,8 @@ OMIM:608367 myopia 17, autosomal dominant skos:exactMatch MONDO:0012021 semapv: OMIM:608368 RAD9B skos:exactMatch hgnc.symbol:21700 semapv:UnspecifiedMatching OMIM:608368 RAD9B skos:exactMatch hgnc.symbol:RAD9B semapv:UnspecifiedMatching OMIM:608368 RAD9B skos:exactMatch ncbigene:144715 semapv:UnspecifiedMatching +OMIM:608369 GALNT13 skos:exactMatch hgnc.symbol:23242 semapv:UnspecifiedMatching +OMIM:608369 GALNT13 skos:exactMatch hgnc.symbol:GALNT13 semapv:UnspecifiedMatching OMIM:608369 GALNT13 skos:exactMatch ncbigene:114805 semapv:UnspecifiedMatching OMIM:608370 SCD5 skos:exactMatch UMLS:C1822652 semapv:UnspecifiedMatching OMIM:608370 SCD5 skos:exactMatch UMLS:C5436772 semapv:UnspecifiedMatching @@ -50751,9 +50753,9 @@ OMIM:608466 AHSA1 skos:exactMatch ncbigene:10598 semapv:UnspecifiedMatching OMIM:608467 STON2 skos:exactMatch hgnc.symbol:30652 semapv:UnspecifiedMatching OMIM:608467 STON2 skos:exactMatch hgnc.symbol:STON2 semapv:UnspecifiedMatching OMIM:608467 STON2 skos:exactMatch ncbigene:85439 semapv:UnspecifiedMatching -OMIM:608468 CCRN4L skos:exactMatch hgnc.symbol:14254 semapv:UnspecifiedMatching -OMIM:608468 CCRN4L skos:exactMatch hgnc.symbol:NOCT semapv:UnspecifiedMatching -OMIM:608468 CCRN4L skos:exactMatch ncbigene:25819 semapv:UnspecifiedMatching +OMIM:608468 NOCT skos:exactMatch hgnc.symbol:14254 semapv:UnspecifiedMatching +OMIM:608468 NOCT skos:exactMatch hgnc.symbol:NOCT semapv:UnspecifiedMatching +OMIM:608468 NOCT skos:exactMatch ncbigene:25819 semapv:UnspecifiedMatching OMIM:608469 DDX17 skos:exactMatch UMLS:C1413957 semapv:UnspecifiedMatching OMIM:608469 DDX17 skos:exactMatch hgnc.symbol:2740 semapv:UnspecifiedMatching OMIM:608469 DDX17 skos:exactMatch hgnc.symbol:DDX17 semapv:UnspecifiedMatching @@ -50975,9 +50977,9 @@ OMIM:608539 GLIS2 skos:exactMatch ncbigene:84662 semapv:UnspecifiedMatching OMIM:608540 congenital disorder of glycosylation, type ik skos:exactMatch MONDO:0012052 semapv:UnspecifiedMatching OMIM:608540 congenital disorder of glycosylation, type ik skos:exactMatch Orphanet:79327 semapv:UnspecifiedMatching OMIM:608540 congenital disorder of glycosylation, type ik skos:exactMatch UMLS:C2931005 semapv:UnspecifiedMatching -OMIM:608541 rho gtpase involved 1n beta-catenin, n-cadherin, and nmda receptor signaling skos:exactMatch hgnc.symbol:17399 semapv:UnspecifiedMatching -OMIM:608541 rho gtpase involved 1n beta-catenin, n-cadherin, and nmda receptor signaling skos:exactMatch hgnc.symbol:ARHGAP32 semapv:UnspecifiedMatching -OMIM:608541 rho gtpase involved 1n beta-catenin, n-cadherin, and nmda receptor signaling skos:exactMatch ncbigene:9743 semapv:UnspecifiedMatching +OMIM:608541 ARHGAP32 skos:exactMatch hgnc.symbol:17399 semapv:UnspecifiedMatching +OMIM:608541 ARHGAP32 skos:exactMatch hgnc.symbol:ARHGAP32 semapv:UnspecifiedMatching +OMIM:608541 ARHGAP32 skos:exactMatch ncbigene:9743 semapv:UnspecifiedMatching OMIM:608542 aneurysm, intracranial berry, 2 skos:exactMatch MONDO:0012053 semapv:UnspecifiedMatching OMIM:608543 schizophrenia 12 skos:exactMatch MONDO:0012054 semapv:UnspecifiedMatching OMIM:608544 HDAC10 skos:exactMatch hgnc.symbol:18128 semapv:UnspecifiedMatching @@ -52106,7 +52108,7 @@ OMIM:608969 UTP14C skos:exactMatch hgnc.symbol:20321 semapv:UnspecifiedMatching OMIM:608969 UTP14C skos:exactMatch hgnc.symbol:UTP14C semapv:UnspecifiedMatching OMIM:608969 UTP14C skos:exactMatch ncbigene:9724 semapv:UnspecifiedMatching OMIM:608970 macular dystrophy, patterned, 2 skos:exactMatch MONDO:0012162 semapv:UnspecifiedMatching -OMIM:608971 immunodeficiency 104 skos:exactMatch MONDO:0012163 semapv:UnspecifiedMatching +OMIM:608971 immunodeficiency 104, severe combined skos:exactMatch MONDO:0012163 semapv:UnspecifiedMatching OMIM:608972 CRTC2 skos:exactMatch hgnc.symbol:27301 semapv:UnspecifiedMatching OMIM:608972 CRTC2 skos:exactMatch hgnc.symbol:CRTC2 semapv:UnspecifiedMatching OMIM:608972 CRTC2 skos:exactMatch ncbigene:200186 semapv:UnspecifiedMatching @@ -57203,19 +57205,19 @@ OMIM:610872 IBRDC3 skos:exactMatch ncbigene:127544 semapv:UnspecifiedMatching OMIM:610874 SPATC1 skos:exactMatch hgnc.symbol:30510 semapv:UnspecifiedMatching OMIM:610874 SPATC1 skos:exactMatch hgnc.symbol:SPATC1 semapv:UnspecifiedMatching OMIM:610874 SPATC1 skos:exactMatch ncbigene:375686 semapv:UnspecifiedMatching -OMIM:610875 SAPS1 skos:exactMatch hgnc.symbol:29195 semapv:UnspecifiedMatching -OMIM:610875 SAPS1 skos:exactMatch hgnc.symbol:PPP6R1 semapv:UnspecifiedMatching -OMIM:610875 SAPS1 skos:exactMatch ncbigene:22870 semapv:UnspecifiedMatching +OMIM:610875 PPP6R1 skos:exactMatch hgnc.symbol:29195 semapv:UnspecifiedMatching +OMIM:610875 PPP6R1 skos:exactMatch hgnc.symbol:PPP6R1 semapv:UnspecifiedMatching +OMIM:610875 PPP6R1 skos:exactMatch ncbigene:22870 semapv:UnspecifiedMatching OMIM:610876 HACE1 skos:exactMatch hgnc.symbol:21033 semapv:UnspecifiedMatching OMIM:610876 HACE1 skos:exactMatch hgnc.symbol:HACE1 semapv:UnspecifiedMatching OMIM:610876 HACE1 skos:exactMatch ncbigene:57531 semapv:UnspecifiedMatching -OMIM:610877 SAPS2 skos:exactMatch hgnc.symbol:19253 semapv:UnspecifiedMatching -OMIM:610877 SAPS2 skos:exactMatch hgnc.symbol:PPP6R2 semapv:UnspecifiedMatching -OMIM:610877 SAPS2 skos:exactMatch ncbigene:9701 semapv:UnspecifiedMatching +OMIM:610877 PPP6R2 skos:exactMatch hgnc.symbol:19253 semapv:UnspecifiedMatching +OMIM:610877 PPP6R2 skos:exactMatch hgnc.symbol:PPP6R2 semapv:UnspecifiedMatching +OMIM:610877 PPP6R2 skos:exactMatch ncbigene:9701 semapv:UnspecifiedMatching OMIM:610878 vesicoureteral reflux 2 skos:exactMatch MONDO:0012573 semapv:UnspecifiedMatching -OMIM:610879 SAPS3 skos:exactMatch hgnc.symbol:1173 semapv:UnspecifiedMatching -OMIM:610879 SAPS3 skos:exactMatch hgnc.symbol:PPP6R3 semapv:UnspecifiedMatching -OMIM:610879 SAPS3 skos:exactMatch ncbigene:55291 semapv:UnspecifiedMatching +OMIM:610879 PPP6R3 skos:exactMatch hgnc.symbol:1173 semapv:UnspecifiedMatching +OMIM:610879 PPP6R3 skos:exactMatch hgnc.symbol:PPP6R3 semapv:UnspecifiedMatching +OMIM:610879 PPP6R3 skos:exactMatch ncbigene:55291 semapv:UnspecifiedMatching OMIM:610880 C11ORF24 skos:exactMatch hgnc.symbol:1174 semapv:UnspecifiedMatching OMIM:610880 C11ORF24 skos:exactMatch hgnc.symbol:C11orf24 semapv:UnspecifiedMatching OMIM:610880 C11ORF24 skos:exactMatch ncbigene:53838 semapv:UnspecifiedMatching @@ -58403,7 +58405,7 @@ OMIM:611289 LRG1 skos:exactMatch ncbigene:116844 semapv:UnspecifiedMatching OMIM:611290 NHEJ1 skos:exactMatch hgnc.symbol:25737 semapv:UnspecifiedMatching OMIM:611290 NHEJ1 skos:exactMatch hgnc.symbol:NHEJ1 semapv:UnspecifiedMatching OMIM:611290 NHEJ1 skos:exactMatch ncbigene:79840 semapv:UnspecifiedMatching -OMIM:611291 immunodeficiency 124 skos:exactMatch MONDO:0012650 semapv:UnspecifiedMatching +OMIM:611291 immunodeficiency 124, severe combined skos:exactMatch MONDO:0012650 semapv:UnspecifiedMatching OMIM:611292 CLVS1 skos:exactMatch hgnc.symbol:23139 semapv:UnspecifiedMatching OMIM:611292 CLVS1 skos:exactMatch hgnc.symbol:CLVS1 semapv:UnspecifiedMatching OMIM:611292 CLVS1 skos:exactMatch ncbigene:157807 semapv:UnspecifiedMatching @@ -61671,8 +61673,7 @@ OMIM:612543 USP36 skos:exactMatch ncbigene:57602 semapv:UnspecifiedMatching OMIM:612544 ABLIM2 skos:exactMatch hgnc.symbol:19195 semapv:UnspecifiedMatching OMIM:612544 ABLIM2 skos:exactMatch hgnc.symbol:ABLIM2 semapv:UnspecifiedMatching OMIM:612544 ABLIM2 skos:exactMatch ncbigene:84448 semapv:UnspecifiedMatching -OMIM:612545 WBSCR26 skos:exactMatch hgnc.symbol:18289 semapv:UnspecifiedMatching -OMIM:612545 WBSCR26 skos:exactMatch hgnc.symbol:ABHD11-AS1 semapv:UnspecifiedMatching +OMIM:612545 WBSCR26 skos:exactMatch hgnc.symbol:BICDL3P semapv:UnspecifiedMatching OMIM:612545 WBSCR26 skos:exactMatch ncbigene:171022 semapv:UnspecifiedMatching OMIM:612546 METTL27 skos:exactMatch hgnc.symbol:19068 semapv:UnspecifiedMatching OMIM:612546 METTL27 skos:exactMatch hgnc.symbol:METTL27 semapv:UnspecifiedMatching @@ -65553,9 +65554,9 @@ OMIM:614246 NAA60 skos:exactMatch ncbigene:79903 semapv:UnspecifiedMatching OMIM:614247 MIR519D skos:exactMatch hgnc.symbol:32112 semapv:UnspecifiedMatching OMIM:614247 MIR519D skos:exactMatch hgnc.symbol:MIR519D semapv:UnspecifiedMatching OMIM:614247 MIR519D skos:exactMatch ncbigene:574480 semapv:UnspecifiedMatching -OMIM:614248 pseudopodium-enriched atypical kinase 1 skos:exactMatch hgnc.symbol:29431 semapv:UnspecifiedMatching -OMIM:614248 pseudopodium-enriched atypical kinase 1 skos:exactMatch hgnc.symbol:PEAK1 semapv:UnspecifiedMatching -OMIM:614248 pseudopodium-enriched atypical kinase 1 skos:exactMatch ncbigene:79834 semapv:UnspecifiedMatching +OMIM:614248 PEAK1 skos:exactMatch hgnc.symbol:29431 semapv:UnspecifiedMatching +OMIM:614248 PEAK1 skos:exactMatch hgnc.symbol:PEAK1 semapv:UnspecifiedMatching +OMIM:614248 PEAK1 skos:exactMatch ncbigene:79834 semapv:UnspecifiedMatching OMIM:614249 intellectual developmental disorder, autosomal recessive 18, with or without epilepsy skos:exactMatch MONDO:0013651 semapv:UnspecifiedMatching OMIM:614250 narcolepsy 7 skos:exactMatch MONDO:0013652 semapv:UnspecifiedMatching OMIM:614251 parkinson disease 18, autosomal dominant, susceptibility to skos:exactMatch MONDO:0013653 semapv:UnspecifiedMatching @@ -68578,7 +68579,7 @@ OMIM:615616 arrhythmogenic right ventricular dysplasia, familial, 13 skos:exactM OMIM:615616 arrhythmogenic right ventricular dysplasia, familial, 13 skos:exactMatch Orphanet:217656 semapv:UnspecifiedMatching OMIM:615616 arrhythmogenic right ventricular dysplasia, familial, 13 skos:exactMatch Orphanet:293910 semapv:UnspecifiedMatching OMIM:615616 arrhythmogenic right ventricular dysplasia, familial, 13 skos:exactMatch UMLS:C3810138 semapv:UnspecifiedMatching -OMIM:615617 immunodeficiency 19 skos:exactMatch MONDO:0014280 semapv:UnspecifiedMatching +OMIM:615617 immunodeficiency 19, severe combined skos:exactMatch MONDO:0014280 semapv:UnspecifiedMatching OMIM:615618 POGLUT1 skos:exactMatch hgnc.symbol:22954 semapv:UnspecifiedMatching OMIM:615618 POGLUT1 skos:exactMatch hgnc.symbol:POGLUT1 semapv:UnspecifiedMatching OMIM:615618 POGLUT1 skos:exactMatch ncbigene:56983 semapv:UnspecifiedMatching @@ -69631,9 +69632,9 @@ OMIM:616067 46,xy sex reversal 9 skos:exactMatch MONDO:0014480 semapv:Unspecifi OMIM:616068 HOXAAS2 skos:exactMatch hgnc.symbol:43745 semapv:UnspecifiedMatching OMIM:616068 HOXAAS2 skos:exactMatch hgnc.symbol:HOXA-AS2 semapv:UnspecifiedMatching OMIM:616068 HOXAAS2 skos:exactMatch ncbigene:285943 semapv:UnspecifiedMatching -OMIM:616069 inflammatory skin and bowel disease, neonatal, 2 skos:exactMatch MONDO:0014481 semapv:UnspecifiedMatching -OMIM:616069 inflammatory skin and bowel disease, neonatal, 2 skos:exactMatch Orphanet:294023 semapv:UnspecifiedMatching -OMIM:616069 inflammatory skin and bowel disease, neonatal, 2 skos:exactMatch UMLS:C4015130 semapv:UnspecifiedMatching +OMIM:616069 neonatal nephrocutaneous inflammatory syndrome skos:exactMatch MONDO:0014481 semapv:UnspecifiedMatching +OMIM:616069 neonatal nephrocutaneous inflammatory syndrome skos:exactMatch Orphanet:294023 semapv:UnspecifiedMatching +OMIM:616069 neonatal nephrocutaneous inflammatory syndrome skos:exactMatch UMLS:C4015130 semapv:UnspecifiedMatching OMIM:616070 CCDC113 skos:exactMatch hgnc.symbol:CFAP263 semapv:UnspecifiedMatching OMIM:616070 CCDC113 skos:exactMatch ncbigene:29070 semapv:UnspecifiedMatching OMIM:616071 SPMIP4 skos:exactMatch hgnc.symbol:SPMIP4 semapv:UnspecifiedMatching @@ -72399,7 +72400,7 @@ OMIM:617233 WDR70 skos:exactMatch ncbigene:55100 semapv:UnspecifiedMatching OMIM:617234 oocyte/zygote/embryo maturation arrest 16 skos:exactMatch MONDO:0014978 semapv:UnspecifiedMatching OMIM:617235 myoclonus, intractable, neonatal skos:exactMatch MONDO:0014979 semapv:UnspecifiedMatching OMIM:617236 cone-rod dystrophy and hearing loss 1 skos:exactMatch MONDO:0020778 semapv:UnspecifiedMatching -OMIM:617237 immunodeficiency 49 skos:exactMatch MONDO:0014981 semapv:UnspecifiedMatching +OMIM:617237 immunodeficiency 49, severe combined skos:exactMatch MONDO:0014981 semapv:UnspecifiedMatching OMIM:617238 myopia 25, autosomal dominant skos:exactMatch MONDO:0014982 semapv:UnspecifiedMatching OMIM:617239 myasthenic syndrome, congenital, 21, presynaptic skos:exactMatch MONDO:0014983 semapv:UnspecifiedMatching OMIM:617240 HAND2AS1 skos:exactMatch hgnc.symbol:48872 semapv:UnspecifiedMatching @@ -73895,8 +73896,7 @@ OMIM:617853 SVBP skos:exactMatch hgnc.symbol:29204 semapv:UnspecifiedMatching OMIM:617853 SVBP skos:exactMatch hgnc.symbol:SVBP semapv:UnspecifiedMatching OMIM:617853 SVBP skos:exactMatch ncbigene:374969 semapv:UnspecifiedMatching OMIM:617854 intellectual developmental disorder, autosomal dominant 56 skos:exactMatch MONDO:0030922 semapv:UnspecifiedMatching -OMIM:617855 BMT2 skos:exactMatch hgnc.symbol:26475 semapv:UnspecifiedMatching -OMIM:617855 BMT2 skos:exactMatch hgnc.symbol:BMT2 semapv:UnspecifiedMatching +OMIM:617855 BMT2 skos:exactMatch hgnc.symbol:SAMTOR semapv:UnspecifiedMatching OMIM:617855 BMT2 skos:exactMatch ncbigene:154743 semapv:UnspecifiedMatching OMIM:617856 THEMIS2 skos:exactMatch hgnc.symbol:16839 semapv:UnspecifiedMatching OMIM:617856 THEMIS2 skos:exactMatch hgnc.symbol:THEMIS2 semapv:UnspecifiedMatching @@ -74976,8 +74976,8 @@ OMIM:618381 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developme OMIM:618382 CIAO2A skos:exactMatch hgnc.symbol:26235 semapv:UnspecifiedMatching OMIM:618382 CIAO2A skos:exactMatch hgnc.symbol:CIAO2A semapv:UnspecifiedMatching OMIM:618382 CIAO2A skos:exactMatch ncbigene:84191 semapv:UnspecifiedMatching -OMIM:618383 intellectual developmental disorder, autosomal recessive 69 skos:exactMatch MONDO:0032715 semapv:UnspecifiedMatching -OMIM:618383 intellectual developmental disorder, autosomal recessive 69 skos:exactMatch UMLS:C5193067 semapv:UnspecifiedMatching +OMIM:618383 neurodevelopmental disorder with progressive movement abnormalities, cognitive decline, and brain abnormalities skos:exactMatch MONDO:0032715 semapv:UnspecifiedMatching +OMIM:618383 neurodevelopmental disorder with progressive movement abnormalities, cognitive decline, and brain abnormalities skos:exactMatch UMLS:C5193067 semapv:UnspecifiedMatching OMIM:618384 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate skos:exactMatch MONDO:0032716 semapv:UnspecifiedMatching OMIM:618385 CAP2 skos:exactMatch hgnc.symbol:20039 semapv:UnspecifiedMatching OMIM:618385 CAP2 skos:exactMatch hgnc.symbol:CAP2 semapv:UnspecifiedMatching @@ -77469,8 +77469,7 @@ OMIM:619344 PCP2 skos:exactMatch hgnc.symbol:30209 semapv:UnspecifiedMatching OMIM:619344 PCP2 skos:exactMatch hgnc.symbol:PCP2 semapv:UnspecifiedMatching OMIM:619344 PCP2 skos:exactMatch ncbigene:126006 semapv:UnspecifiedMatching OMIM:619345 dysostosis multiplex, ain-naz type skos:exactMatch MONDO:0859156 semapv:UnspecifiedMatching -OMIM:619346 ADAL skos:exactMatch hgnc.symbol:31853 semapv:UnspecifiedMatching -OMIM:619346 ADAL skos:exactMatch hgnc.symbol:ADAL semapv:UnspecifiedMatching +OMIM:619346 ADAL skos:exactMatch hgnc.symbol:MAPDA semapv:UnspecifiedMatching OMIM:619346 ADAL skos:exactMatch ncbigene:161823 semapv:UnspecifiedMatching OMIM:619347 CCDC96 skos:exactMatch hgnc.symbol:CFAP184 semapv:UnspecifiedMatching OMIM:619347 CCDC96 skos:exactMatch ncbigene:257236 semapv:UnspecifiedMatching @@ -78111,8 +78110,8 @@ OMIM:619674 PRADC1 skos:exactMatch ncbigene:84279 semapv:UnspecifiedMatching OMIM:619675 UBOX5 skos:exactMatch hgnc.symbol:17777 semapv:UnspecifiedMatching OMIM:619675 UBOX5 skos:exactMatch hgnc.symbol:UBOX5 semapv:UnspecifiedMatching OMIM:619675 UBOX5 skos:exactMatch ncbigene:22888 semapv:UnspecifiedMatching -OMIM:619676 TEX37 skos:exactMatch hgnc.symbol:SPMIP9 semapv:UnspecifiedMatching -OMIM:619676 TEX37 skos:exactMatch ncbigene:200523 semapv:UnspecifiedMatching +OMIM:619676 SPMIP9 skos:exactMatch hgnc.symbol:SPMIP9 semapv:UnspecifiedMatching +OMIM:619676 SPMIP9 skos:exactMatch ncbigene:200523 semapv:UnspecifiedMatching OMIM:619677 CLDND1 skos:exactMatch hgnc.symbol:1322 semapv:UnspecifiedMatching OMIM:619677 CLDND1 skos:exactMatch hgnc.symbol:CLDND1 semapv:UnspecifiedMatching OMIM:619677 CLDND1 skos:exactMatch ncbigene:56650 semapv:UnspecifiedMatching @@ -78587,7 +78586,7 @@ OMIM:619922 neurodevelopmental disorder with dystonia and seizures skos:exactMat OMIM:619923 PPP1R36 skos:exactMatch hgnc.symbol:20097 semapv:UnspecifiedMatching OMIM:619923 PPP1R36 skos:exactMatch hgnc.symbol:PPP1R36 semapv:UnspecifiedMatching OMIM:619923 PPP1R36 skos:exactMatch ncbigene:145376 semapv:UnspecifiedMatching -OMIM:619924 immunodeficiency 105 skos:exactMatch MONDO:0800104 semapv:UnspecifiedMatching +OMIM:619924 immunodeficiency 105, severe combined skos:exactMatch MONDO:0800104 semapv:UnspecifiedMatching OMIM:619925 WASHC3 skos:exactMatch hgnc.symbol:24256 semapv:UnspecifiedMatching OMIM:619925 WASHC3 skos:exactMatch hgnc.symbol:WASHC3 semapv:UnspecifiedMatching OMIM:619925 WASHC3 skos:exactMatch ncbigene:51019 semapv:UnspecifiedMatching @@ -80536,8 +80535,7 @@ OMIM:620870 DDI1 skos:exactMatch ncbigene:414301 semapv:UnspecifiedMatching OMIM:620871 DDI2 skos:exactMatch hgnc.symbol:24578 semapv:UnspecifiedMatching OMIM:620871 DDI2 skos:exactMatch hgnc.symbol:DDI2 semapv:UnspecifiedMatching OMIM:620871 DDI2 skos:exactMatch ncbigene:84301 semapv:UnspecifiedMatching -OMIM:620872 ADGRF2 skos:exactMatch hgnc.symbol:18991 semapv:UnspecifiedMatching -OMIM:620872 ADGRF2 skos:exactMatch hgnc.symbol:ADGRF2 semapv:UnspecifiedMatching +OMIM:620872 ADGRF2 skos:exactMatch hgnc.symbol:ADGRF2P semapv:UnspecifiedMatching OMIM:620872 ADGRF2 skos:exactMatch ncbigene:222611 semapv:UnspecifiedMatching OMIM:620873 ADGRF3 skos:exactMatch hgnc.symbol:18989 semapv:UnspecifiedMatching OMIM:620873 ADGRF3 skos:exactMatch hgnc.symbol:ADGRF3 semapv:UnspecifiedMatching @@ -80596,6 +80594,13 @@ OMIM:620895 ERICH5 skos:exactMatch ncbigene:203111 semapv:UnspecifiedMatching OMIM:620896 LRRC42 skos:exactMatch hgnc.symbol:28792 semapv:UnspecifiedMatching OMIM:620896 LRRC42 skos:exactMatch hgnc.symbol:LRRC42 semapv:UnspecifiedMatching OMIM:620896 LRRC42 skos:exactMatch ncbigene:115353 semapv:UnspecifiedMatching +OMIM:620898 MIR7-2 skos:exactMatch hgnc.symbol:31639 semapv:UnspecifiedMatching +OMIM:620898 MIR7-2 skos:exactMatch hgnc.symbol:MIR7-2 semapv:UnspecifiedMatching +OMIM:620898 MIR7-2 skos:exactMatch ncbigene:407044 semapv:UnspecifiedMatching +OMIM:620899 MIR1179 skos:exactMatch hgnc.symbol:35260 semapv:UnspecifiedMatching +OMIM:620899 MIR1179 skos:exactMatch hgnc.symbol:MIR1179 semapv:UnspecifiedMatching +OMIM:620899 MIR1179 skos:exactMatch ncbigene:100302235 semapv:UnspecifiedMatching +OMIM:620900 STRTS skos:exactMatch ncbigene:136932118 semapv:UnspecifiedMatching OMIM:620902 TNRC18 skos:exactMatch hgnc.symbol:11962 semapv:UnspecifiedMatching OMIM:620902 TNRC18 skos:exactMatch hgnc.symbol:TNRC18 semapv:UnspecifiedMatching OMIM:620902 TNRC18 skos:exactMatch ncbigene:84629 semapv:UnspecifiedMatching @@ -80614,6 +80619,54 @@ OMIM:620907 MBLAC2 skos:exactMatch ncbigene:153364 semapv:UnspecifiedMatching OMIM:620909 KLC4 skos:exactMatch hgnc.symbol:21624 semapv:UnspecifiedMatching OMIM:620909 KLC4 skos:exactMatch hgnc.symbol:KLC4 semapv:UnspecifiedMatching OMIM:620909 KLC4 skos:exactMatch ncbigene:89953 semapv:UnspecifiedMatching +OMIM:620912 MICALL2 skos:exactMatch hgnc.symbol:29672 semapv:UnspecifiedMatching +OMIM:620912 MICALL2 skos:exactMatch hgnc.symbol:MICALL2 semapv:UnspecifiedMatching +OMIM:620912 MICALL2 skos:exactMatch ncbigene:79778 semapv:UnspecifiedMatching +OMIM:620913 NAT9 skos:exactMatch hgnc.symbol:23133 semapv:UnspecifiedMatching +OMIM:620913 NAT9 skos:exactMatch hgnc.symbol:NAT9 semapv:UnspecifiedMatching +OMIM:620913 NAT9 skos:exactMatch ncbigene:26151 semapv:UnspecifiedMatching +OMIM:620914 MB21D2 skos:exactMatch hgnc.symbol:30438 semapv:UnspecifiedMatching +OMIM:620914 MB21D2 skos:exactMatch hgnc.symbol:MB21D2 semapv:UnspecifiedMatching +OMIM:620914 MB21D2 skos:exactMatch ncbigene:151963 semapv:UnspecifiedMatching +OMIM:620915 MYO15B skos:exactMatch hgnc.symbol:14083 semapv:UnspecifiedMatching +OMIM:620915 MYO15B skos:exactMatch hgnc.symbol:MYO15B semapv:UnspecifiedMatching +OMIM:620915 MYO15B skos:exactMatch ncbigene:80022 semapv:UnspecifiedMatching +OMIM:620916 ZSCAN5A skos:exactMatch hgnc.symbol:23710 semapv:UnspecifiedMatching +OMIM:620916 ZSCAN5A skos:exactMatch hgnc.symbol:ZSCAN5A semapv:UnspecifiedMatching +OMIM:620916 ZSCAN5A skos:exactMatch ncbigene:79149 semapv:UnspecifiedMatching +OMIM:620918 ZSCAN5B skos:exactMatch hgnc.symbol:34246 semapv:UnspecifiedMatching +OMIM:620918 ZSCAN5B skos:exactMatch hgnc.symbol:ZSCAN5B semapv:UnspecifiedMatching +OMIM:620918 ZSCAN5B skos:exactMatch ncbigene:342933 semapv:UnspecifiedMatching +OMIM:620919 MANEAL skos:exactMatch hgnc.symbol:26452 semapv:UnspecifiedMatching +OMIM:620919 MANEAL skos:exactMatch hgnc.symbol:MANEAL semapv:UnspecifiedMatching +OMIM:620919 MANEAL skos:exactMatch ncbigene:149175 semapv:UnspecifiedMatching +OMIM:620920 KRBA2 skos:exactMatch hgnc.symbol:26989 semapv:UnspecifiedMatching +OMIM:620920 KRBA2 skos:exactMatch hgnc.symbol:KRBA2 semapv:UnspecifiedMatching +OMIM:620920 KRBA2 skos:exactMatch ncbigene:124751 semapv:UnspecifiedMatching +OMIM:620921 ZNF512 skos:exactMatch hgnc.symbol:29380 semapv:UnspecifiedMatching +OMIM:620921 ZNF512 skos:exactMatch hgnc.symbol:ZNF512 semapv:UnspecifiedMatching +OMIM:620921 ZNF512 skos:exactMatch ncbigene:84450 semapv:UnspecifiedMatching +OMIM:620922 LRRIQ1 skos:exactMatch hgnc.symbol:25708 semapv:UnspecifiedMatching +OMIM:620922 LRRIQ1 skos:exactMatch hgnc.symbol:LRRIQ1 semapv:UnspecifiedMatching +OMIM:620922 LRRIQ1 skos:exactMatch ncbigene:84125 semapv:UnspecifiedMatching +OMIM:620924 NLE1 skos:exactMatch hgnc.symbol:19889 semapv:UnspecifiedMatching +OMIM:620924 NLE1 skos:exactMatch hgnc.symbol:NLE1 semapv:UnspecifiedMatching +OMIM:620924 NLE1 skos:exactMatch ncbigene:54475 semapv:UnspecifiedMatching +OMIM:620925 LRRC31 skos:exactMatch hgnc.symbol:26261 semapv:UnspecifiedMatching +OMIM:620925 LRRC31 skos:exactMatch hgnc.symbol:LRRC31 semapv:UnspecifiedMatching +OMIM:620925 LRRC31 skos:exactMatch ncbigene:79782 semapv:UnspecifiedMatching +OMIM:620927 LRRC46 skos:exactMatch hgnc.symbol:25047 semapv:UnspecifiedMatching +OMIM:620927 LRRC46 skos:exactMatch hgnc.symbol:LRRC46 semapv:UnspecifiedMatching +OMIM:620927 LRRC46 skos:exactMatch ncbigene:90506 semapv:UnspecifiedMatching +OMIM:620928 JMJD4 skos:exactMatch hgnc.symbol:25724 semapv:UnspecifiedMatching +OMIM:620928 JMJD4 skos:exactMatch hgnc.symbol:JMJD4 semapv:UnspecifiedMatching +OMIM:620928 JMJD4 skos:exactMatch ncbigene:65094 semapv:UnspecifiedMatching +OMIM:620929 MOB3A skos:exactMatch hgnc.symbol:29802 semapv:UnspecifiedMatching +OMIM:620929 MOB3A skos:exactMatch hgnc.symbol:MOB3A semapv:UnspecifiedMatching +OMIM:620929 MOB3A skos:exactMatch ncbigene:126308 semapv:UnspecifiedMatching +OMIM:620930 MROH2B skos:exactMatch hgnc.symbol:26857 semapv:UnspecifiedMatching +OMIM:620930 MROH2B skos:exactMatch hgnc.symbol:MROH2B semapv:UnspecifiedMatching +OMIM:620930 MROH2B skos:exactMatch ncbigene:133558 semapv:UnspecifiedMatching omim.ps:100070 Aortic aneurysm, familial abdominal skos:exactMatch MONDO:0007031 semapv:UnspecifiedMatching omim.ps:100300 Adams-Oliver syndrome skos:exactMatch MONDO:0007034 semapv:UnspecifiedMatching omim.ps:101800 Acrodysostosis skos:exactMatch MONDO:0019797 semapv:UnspecifiedMatching @@ -81154,7 +81207,7 @@ omim.ps:613658 Rajab interstitial lung disease with brain calcifications skos:ex omim.ps:614039 Cortical dysplasia, complex, with other brain malformations skos:exactMatch MONDO:0000904 semapv:UnspecifiedMatching omim.ps:614080 Multiple congenital anomalies-hypotonia-seizures syndrome skos:exactMatch MONDO:0100247 semapv:UnspecifiedMatching omim.ps:614231 Microcephaly, epilepsy, and diabetes syndrome skos:exactMatch MONDO:0100328 semapv:UnspecifiedMatching -omim.ps:614328 Neonatal inflammatory skin and bowel disease skos:exactMatch MONDO:0017411 semapv:UnspecifiedMatching +omim.ps:614328 skos:exactMatch MONDO:0017411 semapv:UnspecifiedMatching omim.ps:614372 Lectin complement activation pathway defects skos:exactMatch MONDO:0044209 semapv:UnspecifiedMatching omim.ps:614388 Encephalopathy due to defective mitochondrial and peroxisomal fission skos:exactMatch MONDO:0054865 semapv:UnspecifiedMatching omim.ps:614429 Ventricular septal defect skos:exactMatch MONDO:0002070 semapv:UnspecifiedMatching diff --git a/src/ontology/external/mondo-omim-genes.robot.owl b/src/ontology/external/mondo-omim-genes.robot.owl index 7ffb58fff..236cfa226 100644 --- a/src/ontology/external/mondo-omim-genes.robot.owl +++ b/src/ontology/external/mondo-omim-genes.robot.owl @@ -8,7 +8,7 @@ xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#" xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#"> - + @@ -58,78579 +58,78579 @@ - + - - - - - - - - - - - - OMIM:616033 - + - + - - - - - - - - - - - - OMIM:615616 - + - + - - - - - - - - - - - - OMIM:613090 - + - + - - - - - - - - - - - - OMIM:613659 - + - + - - - - - - - - - - - - OMIM:608516 - + - + - - - - - - - - - - - - OMIM:605074 - + - + - - - - - - - - - - - - OMIM:615026 - + - + - - - - - - - - - - - - OMIM:223100 - + - + - - - - - - - - - - - - OMIM:100100 - + - + - - - - - - - - - - - - OMIM:102530 - + - + - - - - - - - - - - - - OMIM:103050 - + - + - - - - - - - - - - - - OMIM:105120 - + - + - - - - - - - - - - - - OMIM:105400 - + - + - - - - - - - - - - - - OMIM:105500 - + - + - - - - - - - - - - - - OMIM:105550 - + - + - - - - - - - - - - - - OMIM:105600 - + - + - - - - - - - - - - - - OMIM:105650 - + - + - - - - - - - - - - - - OMIM:105830 - + - + - - - - - - - - - - - - OMIM:106190 - + - + - - - - - - - - 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OMIM:272750 - + - + - - - - - - - - - - - - OMIM:273750 - + - + - - - - - - - - - - - - OMIM:273900 - + - + - - - - - - - - - - - - OMIM:274000 - + - + - - - - - - - - - - - - OMIM:274150 - + - + - - - - - - - - - - - - OMIM:274500 - + - + - - - - - - - - - - - - OMIM:274800 - + - + - - - - - - - - - - - - OMIM:274900 - + - + - - - - - - - - - - - - OMIM:275100 - + - + - - - - - - - - - - - - OMIM:275350 - + - + - - - - - - - - - - - - OMIM:275630 - + - + - - - - - - - - - - - - OMIM:275900 - + - + - - - - - - - - - - - - OMIM:276600 - + - + - - - - - - - - - - - - OMIM:276700 - + - + - - - - - - - - - - - - OMIM:276880 - + - + - - - - - - - - - - - - OMIM:277380 - + - + - - - - - - - - - - - - OMIM:277440 - + - + - - - - - - - - - - - - OMIM:277460 - + - + - - - - - - - - - - - - OMIM:277590 - + + + + + + + + + + + + + - + - - - - - - - - - - - - OMIM:277600 - + - + - - - - - - - - - - - - OMIM:277700 - + - + - - - - - - - - - - - - OMIM:277900 - + - + - - - - - - - - - - - - OMIM:277950 - + - + - - - - - - - - - - - - OMIM:278300 - + - + - - - - - - - - - - - - OMIM:278700 - + - + - - - - - - - - - - - - OMIM:278720 - + - + - - - - - - - - - - - - OMIM:278740 - + - + - - - - - - - - - - - - OMIM:278750 - + - + - - - - - - - - - - - - OMIM:280000 - + - + - - - - - - - - - - - - OMIM:300000 - + - + - - - - - - - - - - - - OMIM:300088 - + - + - - - - - - - - - - - - OMIM:300114 - + - + - - - - - - - - - - - - OMIM:300143 - + - + - - - - - - - - - - - - OMIM:300148 - + - + - - - - - - - - - - - - OMIM:300166 - + - + - - - - - - - - - - - - OMIM:300210 - + - + - - - - - - - - - - - - OMIM:300243 - + - + - - - - - - - - - - - - OMIM:300257 - + - + - - - - - - - - - - - - OMIM:300261 - + - + - - - - - - - - - - - - OMIM:300263 - + - + - - - - - - - - - - - - OMIM:300310 - + - + - - - - - - - - - - - - OMIM:300352 - + - + - - - - - - - - - - - - OMIM:300354 - + - + - - - - - - - - - - - - OMIM:300373 - + - + - - - - - - - - - - - - OMIM:300387 - + - + - - - - - - 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OMIM:300758 - + - + - - - - - - - - - - - - OMIM:300770 - + - + - - - - - - - - - - - - OMIM:300799 - + - + - - - - - - - - - - - - OMIM:300802 - + - + - - - - - - - - - - - - OMIM:300803 - + - + - - - - - - - - - - - - OMIM:300813 - + - + - - - - - - - - - - - - OMIM:300830 - + - + - - - - - - - - - - - - OMIM:300849 - + - + - - - - - - - - - - - - OMIM:300850 - + - + - - - - - - - - - - - - OMIM:300857 - + - + - - - - - - - - - - - - OMIM:300860 - + - + - - - - - - - - - - - - OMIM:300863 - + - + - - - - - - - - - - - - OMIM:300867 - + - + - - - - - - - - - - - - OMIM:300872 - + - + - - - - - - - - - - - - OMIM:300882 - + - + - - - - - - - - - - - - OMIM:300884 - + - + - - - - - - - - - - - - OMIM:300887 - + - + - - - - - - - - - - - - OMIM:300888 - + - + - - - - - - - - - - - - OMIM:300894 - + - + - - - - - - - - - - - - OMIM:300896 - + - + - - - - - - - - - - - - OMIM:300905 - + - + - - - - - - - - - - - - OMIM:300912 - + - + - - - - - - - - - - - - OMIM:300914 - + - + - - - - - - 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OMIM:600121 - + - + - - - - - - - - - - - - OMIM:600138 - + - + - - - - - - - - - - - - OMIM:600231 - + - + - - - - - - - - - - - - OMIM:600316 - + - + - - - - - - - - - - - - OMIM:600320 - + - + - - - - - - - - - - - - OMIM:600348 - + - + - - - - - - - - - - - - OMIM:600363 - + - + - - - - - - - - - - - - OMIM:600373 - + - + - - - - - - - - - - - - OMIM:600376 - + - + - - - - - - - - - - - - OMIM:600627 - + - + - - - - - - - - - - - - OMIM:600666 - + - + - - - - - - - - - - - - OMIM:600740 - + - + - - - - - - - - - - - - OMIM:600791 - + - + - - - - - - - - - - - - OMIM:600795 - + - + - - - - - - - - - - - - OMIM:600802 - + - + - - - - - - - - - - - - OMIM:600881 - + - + - - - - - - - - - - - - OMIM:600882 - + - + - - - - - - - - - - - - OMIM:600901 - + + + + + + + + + + + + + - + - - - - - - - - - - - - OMIM:600920 - + - + - - - - - - - - - - - - OMIM:600971 - + - + - - - - - - - - - - - - OMIM:600977 - + - + - - - - - - - - - - - - OMIM:600987 - + - + - - - - - - - - - - - - OMIM:600994 - + - + - - - - - - - - - - - - OMIM:600995 - + - + - - - - - - - - - - - - OMIM:601003 - + - + - - - - - - - - - - - - OMIM:601068 - + - + - - - - - - - - - - - - OMIM:601072 - + - + - - - - - - - - - - - - OMIM:601098 - + - + - - - - - - - - - - - - OMIM:601110 - + - + - - - - - - - - - - - - OMIM:601238 - + - + - - - - - - - - - - - - OMIM:601283 - + - + - - - - - - - - - - - - OMIM:601331 - + - + - - - - - - - - - - - - OMIM:601382 - + - + - - - - - - - - - - - - OMIM:601410 - + - + - - - - - - - - - - - - OMIM:601412 - + - + - - - - - - - - - - - - OMIM:601414 - + - + - - - - - - - - - - - - OMIM:601455 - + - + - - - - - - - - - - - - OMIM:601492 - + - + - - - - - - - - - - - - OMIM:601518 - + - + - - - - - - - - - - - - OMIM:601547 - + - + - - - - - - - - - - - - OMIM:601552 - + - + - - - - - - - - - - - - OMIM:601583 - + - + - - - - - - - - - - - - OMIM:601650 - + - + - - - - - - - - - - - - OMIM:601846 - + - + - - - - - - - - - - - - OMIM:601869 - + - + - - - - - - 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OMIM:602772 - + - + - - - - - - - - - - - - OMIM:602782 - + - + - - - - - - - - - - - - OMIM:603034 - + - + - - - - - - - - - - - - OMIM:603041 - + - + - - - - - - - - - - - - OMIM:603075 - + - + - - - - - - - - - - - - OMIM:603147 - + - + - - - - - - - - - - - - OMIM:603278 - + - + - - - - - - - - - - - - OMIM:603284 - + - + - - - - - - - - - - - - OMIM:603285 - + - + - - - - - - - - - - - - OMIM:603383 - + - + - - - - - - - - - - - - OMIM:603387 - + - + - - - - - - - - - - - - OMIM:603467 - + - + - - - - - - - - - - - - OMIM:603516 - + - + - - - - - - - - - - - - OMIM:603546 - + - + - - - - - - - - - - - - OMIM:603552 - + - + - - - - - - - - - - - - OMIM:603585 - + - + - - - - - - - - - - - - OMIM:603592 - + - + - - - - - - - - - - - - OMIM:603720 - + - + - - - - - - - - - - - - OMIM:603813 - + - + - - - - - - - - - - - - OMIM:603932 - + - + - - - - - - - - - - - - OMIM:603933 - + - + - - - - - - - - - - - - OMIM:603965 - + - + - - - - - - - - - - - - OMIM:604117 - + - + - - - - - - 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OMIM:604625 - + - + - - - - - - - - - - - - OMIM:604715 - + - + - - - - - - - - - - - - OMIM:604777 - + - + - - - - - - - - - - - - OMIM:604804 - + - + - - - - - - - - - - - - OMIM:604906 - + - + - - - - - - - - - - - - OMIM:604928 - + - + - - - - - - - - - - - - OMIM:604931 - + - + - - - - - - - - - - - - OMIM:605019 - + - + - - - - - - - - - - - - OMIM:605130 - + - + - - - - - - - - - - - - OMIM:605258 - + - + - - - - - - - - - - - - OMIM:605259 - + - + - - - - - - - - - - - - OMIM:605282 - + - + - - - - - - - - - - - - OMIM:605361 - + - + - - - - - - - - - - - - OMIM:605375 - + - + - - - - - - - - - - - - OMIM:605376 - + - + - - - - - - - - - - - - OMIM:605387 - + - + - - - - - - - - - - - - OMIM:605389 - + - + - - - - - - - - - - - - OMIM:605407 - + - + - - - - - - - - - - - - OMIM:605428 - + - + - - - - - - - - - - - - OMIM:605429 - + - + - - - - - - - - - - - - OMIM:605583 - + - + - - - - - - - - - - - - OMIM:605637 - + - + - - - - - - - - - - - - OMIM:605670 - + + + + + + + - + 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xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#" xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#"> - + diff --git a/src/ontology/external/nord.robot.owl b/src/ontology/external/nord.robot.owl index d1b250543..16d4a1dc9 100644 --- a/src/ontology/external/nord.robot.owl +++ b/src/ontology/external/nord.robot.owl @@ -8,7 +8,7 @@ xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#" xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#"> - + @@ -823,6 +823,20 @@ + + + + + + + + + + MONDO:NORD + + + + @@ -1340,6 +1354,13 @@ Pinta + + + + Pinta + NORD:1580 + http://purl.obolibrary.org/obo/mondo#NORD_LABEL + @@ -1353,13 +1374,6 @@ NORD:1580 MONDO:NORD - - - - Pinta - NORD:1580 - http://purl.obolibrary.org/obo/mondo#NORD_LABEL - @@ -5268,6 +5282,20 @@ + + + + + + + + + + MONDO:NORD + + + + @@ -8574,6 +8602,20 @@ + + + + + + + + + + MONDO:NORD + + + + @@ -12961,6 +13003,13 @@ Mixed Cryoglobulinemia + + + + + MONDO:NORD + NORD:1452 + @@ -12974,13 +13023,6 @@ NORD:1452 http://purl.obolibrary.org/obo/mondo#NORD_LABEL - - - - - MONDO:NORD - NORD:1452 - @@ -16352,20 +16394,6 @@ - - - - - - - - - - MONDO:NORD - - - - @@ -22847,36 +22875,6 @@ - - - - NORD:1789 - Trichorhinophalangeal Syndrome Type III - - - - - - NORD:1789 - MONDO:NORD - - - - - Trichorhinophalangeal Syndrome Type III - NORD:1789 - http://purl.obolibrary.org/obo/mondo#NORD_LABEL - - - - - - MONDO:NORD - NORD:1789 - - - - @@ -72145,62 +72143,6 @@ - - - - - - - - - - MONDO:NORD - - - - - - - - - - - - - - MONDO:NORD - - - - - - - - - - - - - - MONDO:NORD - - - - - - - - - - - - - - MONDO:NORD - - - - @@ -141616,6 +141558,20 @@ + + + + + + + + + + MONDO:NORD + + + + @@ -149160,20 +149116,6 @@ - - - - - - - - - - MONDO:NORD - - - - diff --git a/src/ontology/external/nord.robot.tsv b/src/ontology/external/nord.robot.tsv index 2048bcdf6..819935a92 100644 --- a/src/ontology/external/nord.robot.tsv +++ b/src/ontology/external/nord.robot.tsv @@ -1,5 +1,6 @@ mondo_id report_ref report_ref_source preferred_name preferred_name_source synonym_type subset subset_source subset_source2 ID A oboInOwl:hasDbXref >A oboInOwl:source A oboInOwl:hasExactSynonym >A oboInOwl:hasDbXref >A oboInOwl:hasSynonymType AI oboInOwl:inSubset >A oboInOwl:source >A oboInOwl:source +MONDO:0032745 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0031115 ADCY5-Related Dyskinesia http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0025956 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0859365 TRPM3-Related Neurodevelopmental Disorder http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -267,7 +268,6 @@ MONDO:0054794 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0054785 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0054780 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0054782 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0054771 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0054776 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0054763 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0054764 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -5436,12 +5436,8 @@ MONDO:0013838 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0013839 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0013836 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0013837 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0013832 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0013833 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0013834 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0013835 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0013830 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0013831 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0013827 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0013828 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0013829 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -8692,7 +8688,6 @@ MONDO:0008610 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0008607 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008603 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008599 NORD:1791 MONDO:NORD NORD:1791 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1791 MONDO:NORD -MONDO:0008597 NORD:1789 MONDO:NORD Trichorhinophalangeal Syndrome Type III NORD:1789 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1789 MONDO:NORD MONDO:0008594 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008596 NORD:1787 MONDO:NORD NORD:1787 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1787 MONDO:NORD MONDO:0008592 NORD:1786 MONDO:NORD Tricho Dento Osseous Syndrome NORD:1786 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1786 MONDO:NORD @@ -9092,7 +9087,6 @@ MONDO:0007854 NORD:1286 MONDO:NORD NORD:1286 http://purl.obolibrary.org/obo/mon MONDO:0007856 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007853 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007850 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007851 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007852 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007846 NORD:1322 MONDO:NORD NORD:1322 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1322 MONDO:NORD MONDO:0007848 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -9574,6 +9568,7 @@ MONDO:0006360 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0006346 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006339 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006335 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0006325 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006292 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006290 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006288 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -10072,6 +10067,7 @@ MONDO:0000519 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0000507 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0000498 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0000463 NORD:1515 MONDO:NORD Urofacial Syndrome NORD:1515 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1515 MONDO:NORD +MONDO:0000456 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0000453 NORD:2019 MONDO:NORD NORD:2019 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:2019 MONDO:NORD MONDO:0000455 NORD:991 MONDO:NORD NORD:991 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:991 MONDO:NORD MONDO:0000437 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -10158,4 +10154,5 @@ MONDO:0007758 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0007525 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005676 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0004694 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0004651 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD diff --git a/src/ontology/external/ordo-subsets.robot.owl b/src/ontology/external/ordo-subsets.robot.owl index c520e1a5e..23e8b1f59 100644 --- a/src/ontology/external/ordo-subsets.robot.owl +++ b/src/ontology/external/ordo-subsets.robot.owl @@ -8,7 +8,7 @@ xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#" xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#"> - + @@ -887,6 +887,20 @@ + + + + http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders + + + + + http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders + Orphanet:659681 + + + + @@ -3848,6 +3862,20 @@ + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:662721 + + + + @@ -7740,20 +7768,6 @@ - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - Orphanet:98808 - - - - @@ -29033,6 +29047,20 @@ + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:662198 + + + + @@ -42958,6 +42986,20 @@ + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:664410 + + + + @@ -46869,6 +46911,20 @@ + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:672979 + + + + @@ -48101,6 +48157,20 @@ + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:476096 + + + + @@ -49403,6 +49473,20 @@ + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:574918 + + + + @@ -49809,6 +49893,20 @@ + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:672985 + + + + @@ -51111,6 +51209,20 @@ + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:659702 + + + + @@ -96348,20 +96460,6 @@ - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - Orphanet:476096 - - - - @@ -117929,20 +118027,6 @@ - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - Orphanet:1331 - - - - @@ -118125,6 +118209,20 @@ + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:675814 + + + + @@ -118299,6 +118397,20 @@ + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:662184 + + + + @@ -118327,6 +118439,34 @@ + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:676125 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:675628 + + + + @@ -119195,6 +119335,20 @@ + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:662216 + + + + @@ -119937,6 +120091,20 @@ + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:659609 + + + + @@ -119965,6 +120133,20 @@ + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:664923 + + + + @@ -119993,6 +120175,20 @@ + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:675767 + + + + @@ -120021,6 +120217,20 @@ + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:676039 + + + + @@ -120049,6 +120259,34 @@ + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:662179 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:662175 + + + + @@ -123059,20 +123297,6 @@ - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - Orphanet:574918 - - - - @@ -126321,6 +126545,20 @@ + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:662829 + + + + @@ -127049,6 +127287,20 @@ + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:1331 + + + + @@ -127161,6 +127413,20 @@ + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:674762 + + + + @@ -128505,6 +128771,20 @@ + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:659975 + + + + @@ -128519,6 +128799,48 @@ + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:660017 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:661526 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:662189 + + + + @@ -128533,6 +128855,34 @@ + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:662762 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:675216 + + + + @@ -130059,6 +130409,20 @@ + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:664430 + + + + @@ -130507,6 +130871,650 @@ + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:659904 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders + + + + + http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders + Orphanet:659387 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder + Orphanet:659626 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder + Orphanet:659634 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:659744 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder + Orphanet:659759 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder + Orphanet:660012 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:98808 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:660021 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:661412 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder + Orphanet:662169 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder + Orphanet:662172 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:662229 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:662255 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder + Orphanet:662934 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:664372 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:664377 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder + Orphanet:664401 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder + Orphanet:664404 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:664787 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:664912 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder + Orphanet:665044 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder + Orphanet:665058 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:667678 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders + + + + + http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders + Orphanet:673470 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders + + + + + http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders + Orphanet:673473 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder + Orphanet:673585 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders + + + + + http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders + Orphanet:674499 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:674924 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:674930 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:674935 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:674943 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:674947 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:674953 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:674958 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:674965 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:674968 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:675380 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:675775 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:675782 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:675822 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder + Orphanet:675833 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder + Orphanet:675837 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder + Orphanet:675841 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:676036 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders + + + + + http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders + Orphanet:659698 + + + + diff --git a/src/ontology/external/ordo-subsets.robot.tsv b/src/ontology/external/ordo-subsets.robot.tsv index 87451850c..a0f5dd643 100644 --- a/src/ontology/external/ordo-subsets.robot.tsv +++ b/src/ontology/external/ordo-subsets.robot.tsv @@ -60,6 +60,7 @@ MONDO:0001569 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Or MONDO:0001586 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:579 mucopolysaccharidosis type 1 Mucopolysaccharidosis type 1 MONDO:0001595 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1429 choreatic disease Benign hereditary chorea MONDO:0001633 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:648684 central retinal artery occlusion Central retinal artery occlusion +MONDO:0001676 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:659681 erythropoietic protoporphyria Erythropoietic porphyria MONDO:0001703 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:98658 color vision disorder Color-vision disease MONDO:0001713 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:68383 inherited aplastic anemia Rare constitutional aplastic anemia MONDO:0001734 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:805 tuberous sclerosis Tuberous sclerosis complex @@ -272,6 +273,7 @@ MONDO:0005888 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:660053 MONDO:0005893 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:506098 pancreatic endocrine carcinoma Neuroendocrine carcinoma of pancreas MONDO:0005894 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:73260 paracoccidioidomycosis Paracoccidioidomycosis MONDO:0005895 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:658913 paragonimiasis Paragonimiasis +MONDO:0005916 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:662721 placenta accreta Placenta accreta spectrum disorder MONDO:0005919 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:439167 placental insufficiency Placental insufficiency MONDO:0005933 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:64741 pulmonary blastoma Pulmonary blastoma MONDO:0005942 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3096 Reye syndrome Reye syndrome @@ -550,7 +552,6 @@ MONDO:0007489 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1822 d MONDO:0007490 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2767 carpotarsal osteochondromatosis Carpotarsal osteochondromatosis MONDO:0007492 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:256 early-onset generalized limb-onset dystonia Early-onset generalized limb-onset dystonia MONDO:0007493 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:98805 torsion dystonia 4 Primary dystonia, DYT4 type -MONDO:0007495 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:98808 dystonia 5 Autosomal dominant dopa-responsive dystonia MONDO:0007496 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:71517 dystonia 12 Rapid-onset dystonia-parkinsonism MONDO:0007504 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2405 thickened earlobes-conductive deafness syndrome Thickened earlobes-conductive deafness syndrome MONDO:0007507 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1658 absence of fingerprints-congenital milia syndrome Absence of fingerprints-congenital milia syndrome @@ -2073,6 +2074,7 @@ MONDO:0010501 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:466791 MONDO:0010503 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:570371 Bartter disease type 5 Bartter syndrome type 5 MONDO:0010505 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3041 intellectual disability-balding-patella luxation-acromicria syndrome Intellectual disability-balding-patella luxation-acromicria syndrome MONDO:0010507 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:521258 Xq25 microduplication syndrome Xq25 microduplication syndrome +MONDO:0010512 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:662198 intellectual disability, X-linked, syndromic, Bain type Neurodevelopmental delay-intellectual disability-skeletal defects syndrome MONDO:0010514 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:504530 combined immunodeficiency due to moesin deficiency Combined immunodeficiency due to Moesin deficiency MONDO:0010518 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:906 Wiskott-Aldrich syndrome Wiskott-Aldrich syndrome MONDO:0010519 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:847 alpha thalassemia-X-linked intellectual disability syndrome X-linked alpha-thalassemia-intellectual disability syndrome @@ -3077,6 +3079,7 @@ MONDO:0013241 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:211017 MONDO:0013245 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:228426 syndromic multisystem autoimmune disease due to ITCH deficiency Syndromic multisystem autoimmune disease due to Itch deficiency MONDO:0013252 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:280558 Warsaw breakage syndrome Warsaw breakage syndrome MONDO:0013256 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:94065 chromosome 15q24 deletion syndrome 15q24 microdeletion syndrome +MONDO:0013266 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:664410 intellectual disability, autosomal dominant 20 Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome MONDO:0013267 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:261222 distal 16p11.2 microdeletion syndrome Distal 16p11.2 microdeletion syndrome MONDO:0013268 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:228390 frontonasal dysplasia with alopecia and genital anomaly Frontonasal dysplasia-alopecia-genital anomalies syndrome MONDO:0013271 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:306542 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome @@ -3358,6 +3361,7 @@ MONDO:0014118 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:369852 MONDO:0014119 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:363528 intellectual disability-strabismus syndrome Intellectual disability-strabismus syndrome MONDO:0014121 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:363454 autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy MONDO:0014127 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:370091 oculocutaneous albinism type 5 Oculocutaneous albinism type 5 +MONDO:0014128 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:672979 TCF12-related craniosynostosis Craniosynostosis-facial dysmorphism-brachydactyly syndrome MONDO:0014131 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:363523 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome MONDO:0014132 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:363424 multiple mitochondrial dysfunctions syndrome 3 Multiple mitochondrial dysfunctions syndrome type 3 MONDO:0014139 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:536467 Ehlers-Danlos syndrome, spondylodysplastic type, 2 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome @@ -3446,6 +3450,7 @@ MONDO:0014342 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:404466 MONDO:0014349 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:411493 pontocerebellar hypoplasia type 10 Pontocerebellar hypoplasia type 10 MONDO:0014351 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:369920 pontocerebellar hypoplasia type 9 Pontocerebellar hypoplasia type 9 MONDO:0014353 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:443811 immunodeficiency 23 PGM3-CDG +MONDO:0014355 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:476096 cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis Erythrokeratodermia-cardiomyopathy syndrome MONDO:0014358 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:412069 AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome MONDO:0014361 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:352490 autism spectrum disorder due to AUTS2 deficiency Autism spectrum disorder due to AUTS2 deficiency MONDO:0014369 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:420584 postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome @@ -3539,6 +3544,7 @@ MONDO:0014568 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:444099 MONDO:0014572 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:448251 Lichtenstein-Knorr syndrome Progressive autosomal recessive ataxia-deafness syndrome MONDO:0014574 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:444138 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome MONDO:0014576 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:401862 lipoyl transferase 1 deficiency Lipoyl transferase 1 deficiency +MONDO:0014597 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:574918 immunodeficiency 39 Predisposition to severe viral infection due to IRF7 deficiency MONDO:0014601 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:397709 autosomal recessive spinocerebellar ataxia 20 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome MONDO:0014602 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:457279 Hogue-Janssens syndrome 1 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome MONDO:0014605 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:457284 Houge-Janssens syndrome 2 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome @@ -3568,6 +3574,7 @@ MONDO:0014700 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Or MONDO:0014701 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:459051 spondyloepiphyseal dysplasia, Stanescu type Spondyloepiphyseal dysplasia, Stanescu type MONDO:0014702 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:447760 autosomal recessive complex spastic paraplegia type 9B Autosomal recessive spastic paraplegia type 9B MONDO:0014704 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:477831 skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome Kosaki overgrowth syndrome +MONDO:0014705 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:672985 craniosynostosis 6 Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome MONDO:0014707 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:488280 14q32 duplication syndrome 14q32 duplication syndrome MONDO:0014708 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1440 ring chromosome 14 Ring chromosome 14 syndrome MONDO:0014710 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:477857 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency @@ -3661,6 +3668,7 @@ MONDO:0014920 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:466718 MONDO:0014936 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:500150 ZTTK syndrome Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome MONDO:0014944 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:464288 short stature-brachydactyly-obesity-global developmental delay syndrome Short stature-brachydactyly-obesity-global developmental delay syndrome MONDO:0014946 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:653712 Sifrim-Hitz-Weiss syndrome CHD4-related neurodevelopmental disorder +MONDO:0014948 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:659702 short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome MONDO:0014952 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:468620 intellectual disability-epilepsy-extrapyramidal syndrome Intellectual disability-epilepsy-extrapyramidal syndrome MONDO:0014953 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:542306 gnb5-related intellectual disability-cardiac arrhythmia syndrome GNB5-related intellectual disability-cardiac arrhythmia syndrome MONDO:0014958 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:496790 Harel-Yoon syndrome Ocular anomalies-axonal neuropathy-developmental delay syndrome @@ -6743,7 +6751,7 @@ MONDO:0018599 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:440221 MONDO:0018600 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:440233 congenital abducens nerve palsy Congenital abducens nerve palsy MONDO:0018601 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:440354 autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome MONDO:0018602 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:440368 necrotizing soft tissue infection Necrotizing soft tissue infection -MONDO:0018603 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:440392 interstitial lung disease due to SP-C deficiency Interstitial lung disease due to SP-C deficiency +MONDO:0018603 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:440392 SFTPC- related interstitial lung disease Interstitial lung disease due to SP-C deficiency MONDO:0018604 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:440437 familial colorectal cancer type X Familial colorectal cancer Type X MONDO:0018605 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:440701 disorders of pentose/polyol metabolism Disorders of pentose/polyol metabolism MONDO:0018606 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:440724 extensive peripapillary myelinated nerve fibers Extensive peripapillary myelinated nerve fibers @@ -6898,7 +6906,6 @@ MONDO:0018770 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:474 Je MONDO:0018771 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:474347 obsolete congenital anomaly of ventricular septum Rare congenital anomaly of ventricular septum MONDO:0018772 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:475 Joubert syndrome Joubert syndrome MONDO:0018773 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:476093 autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome -MONDO:0018774 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:476096 erythrokeratodermia-cardiomyopathy syndrome Erythrokeratodermia-cardiomyopathy syndrome MONDO:0018775 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:476109 obsolete axonal hereditary motor and sensory neuropathy Axonal hereditary motor and sensory neuropathy MONDO:0018776 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:476116 demyelinating hereditary motor and sensory neuropathy Demyelinating hereditary motor and sensory neuropathy MONDO:0018777 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:476119 autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome @@ -8441,7 +8448,6 @@ MONDO:0022800 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orpha MONDO:0022825 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:519384 congenital cystic eye Congenital cystic eye MONDO:0022851 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2109 Dennis-Fairhurst-Moore syndrome Hallermann-Streiff-like syndrome MONDO:0022986 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:617916 diffuse idiopathic pulmonary neuroendocrine cell hyperplasia Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia -MONDO:0023122 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1331 familial prostate carcinoma Familial prostate cancer MONDO:0023171 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2048 foix chavany Marie syndrome Foix-Chavany-Marie syndrome MONDO:0023188 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:564003 Freiberg disease Osteochondrosis of the metatarsal bone MONDO:0023201 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2058 Fryns Smeets Thiry syndrome Fryns-Smeets-Thiry syndrome @@ -8455,6 +8461,7 @@ MONDO:0024149 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orpha MONDO:0024237 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:183500 inherited neurodegenerative disorder Genetic neurodegenerative disease MONDO:0024252 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:488613 global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome MONDO:0024257 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:98505 hereditary motor neuron disease Genetic motor neuron disease +MONDO:0024326 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:675814 pleural adenomatoid tumor Adenomatoid tumour of the pleura MONDO:0024336 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:494454 vulvar adenocarcinoma Vulvar adenocarcinoma MONDO:0024457 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:35069 neurodegeneration with brain iron accumulation 2A Infantile neuroaxonal dystrophy MONDO:0024471 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:496924 obsolete non-inflammatory vasculopathy Non-inflammatory vasculopathy @@ -8468,8 +8475,11 @@ MONDO:0024551 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:538931 MONDO:0024557 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:251347 ataxia-telangiectasia-like disorder 1 Ataxia-telangiectasia-like disorder MONDO:0024559 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:229 aortic aneurysm, familial thoracic 1 Familial aortic dissection MONDO:0024568 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:370088 infantile liver failure syndrome 1 Acute infantile liver failure-multisystemic involvement syndrome +MONDO:0024607 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:662184 congenital muscular dystrophy with cataracts and intellectual disability Congenital muscular dystrophy-cataract-intellectual disability syndrome MONDO:0024609 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:494448 vulvar squamous cell carcinoma Vulvar squamous cell carcinoma MONDO:0024686 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:66627 tenosynovial giant cell tumor, diffuse type Tenosynovial giant cell tumor +MONDO:0024770 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:676125 autoinflammatory syndrome, familial, X-linked, Behcet-like 2 X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency +MONDO:0024777 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:675628 immunodeficiency 98 with autoinflammation, X-linked TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome MONDO:0024781 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:653751 immunodeficiency 102 X-linked combined immunodeficiency due to SASH3 deficiency MONDO:0024987 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:156622 obsolete genetic urogenital tract malformation Genetic urogenital tract malformation MONDO:0025193 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:98897 oculopharyngodistal myopathy Oculopharyngodistal myopathy @@ -8532,6 +8542,7 @@ MONDO:0030105 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:570422 MONDO:0030258 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:613274 pontocerebellar hypoplasia, type 14 Pontocerebellar hypoplasia type 14 MONDO:0030482 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:631079 spastic paraplegia 84, autosomal recessive Autosomal recessive spastic paraplegia type 84 MONDO:0030512 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:631082 spastic paraplegia 85, autosomal recessive Autosomal recessive spastic paraplegia type 85 +MONDO:0030524 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:662216 mucopolysaccharidosis, type 10 Mucopolysaccharidosis type 10 MONDO:0030673 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:631085 spastic paraplegia 86, autosomal recessive Autosomal recessive spastic paraplegia type 86 MONDO:0030767 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:322126 obsolete genetic tumor of hematopoietic and lymphoid tissues Genetic tumor of hematopoietic and lymphoid tissues MONDO:0030805 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:631106 spinocerebellar ataxia 49 Spinocerebellar ataxia type 49 @@ -8585,14 +8596,20 @@ MONDO:0032726 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:565624 MONDO:0032737 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:631068 spastic paraplegia 80, autosomal dominant Autosomal dominant spastic paraplegia type 80 MONDO:0032814 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:477749 microangiopathy and leukoencephalopathy, pontine, autosomal dominant Pontine autosomal dominant microangiopathy with leukoencephalopathy MONDO:0032819 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:99832 hypothyroidism, congenital, nongoitrous, 7 Resistance to thyrotropin-releasing hormone syndrome +MONDO:0032820 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:659609 neurodevelopmental disorder with structural brain anomalies and dysmorphic facies Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome MONDO:0032830 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:656135 snijders blok-fisher syndrome Intellectual disability-cupped ears syndrome MONDO:0032831 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:613267 pontocerebellar hypoplasia, type 13 Pontocerebellar hypoplasia type 13 +MONDO:0032838 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:664923 neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome MONDO:0032882 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:658595 Heyn-Sproul-Jackson syndrome DNMT3A-related microcephalic dwarfism MONDO:0032886 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:664438 Liang-Wang syndrome Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome +MONDO:0032899 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:675767 neutropenia, severe congenital, 8, autosomal dominant Severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to SRP54 deficiency MONDO:0032906 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:631073 spastic paraplegia 82, autosomal recessive Autosomal recessive spastic paraplegia type 82 MONDO:0032916 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:659463 Imagawa-Matsumoto syndrome Imagawa-Matsumoto syndrome +MONDO:0032928 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:676039 T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant Combined immunodeficiency due to FOXN1 haploinsufficiency MONDO:0032931 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:615954 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome MONDO:0032933 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:656279 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant 1p36.33 duplication syndrome +MONDO:0032942 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:662179 neurodevelopmental disorder with microcephaly and dysmorphic facies Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome +MONDO:0032943 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:662175 neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome MONDO:0033043 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:527497 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy NKX6-2-related autosomal recessive hypomyelinating leukodystrophy MONDO:0033056 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:414726 obsolete genetic facial cleft Genetic facial cleft MONDO:0033135 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:476394 Charcot-Marie-Tooth disease, demyelinating, type 1G PMP2-related Charcot-Marie-Tooth disease type 1 @@ -8808,7 +8825,6 @@ MONDO:0035534 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:572761 MONDO:0035540 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:573163 pheochromocytoma-paraganglioma Pheochromocytoma-paraganglioma MONDO:0035541 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:573253 obsolete split cord malformation type II Split cord malformation type II MONDO:0035542 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:573278 obsolete split cord malformation Split cord malformation -MONDO:0035547 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:574918 predisposition to severe viral infection due to IRF7 deficiency Predisposition to severe viral infection due to IRF7 deficiency MONDO:0035548 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:574957 autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency MONDO:0035551 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:575553 cathepsin a-related arteriopathy-strokes-leukoencephalopathy Cathepsin A-related arteriopathy-strokes-leukoencephalopathy MONDO:0035554 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:576227 obsolete complete atrioventricular septal defect without ventricular hypoplasia Complete atrioventricular septal defect without ventricular hypoplasia @@ -9041,6 +9057,7 @@ MONDO:0060627 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:529665 MONDO:0060631 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:610569 Alkuraya-Kucinskas syndrome KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome MONDO:0060707 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:580940 Ververi-Brady syndrome QRICH1-related intellectual disability-chondrodysplasia syndrome MONDO:0060759 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:597623 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome +MONDO:0060763 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:662829 intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome MONDO:0100038 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:528084 complex neurodevelopmental disorder Non-specific syndromic intellectual disability MONDO:0100062 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1934 developmental and epileptic encephalopathy Early infantile epileptic encephalopathy MONDO:0100101 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:994 fetal akinesia deformation sequence 1 Fetal akinesia deformation sequence @@ -9093,6 +9110,7 @@ MONDO:0600030 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Or MONDO:0700088 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:98810 paroxysmal nonkinesigenic dyskinesia Paroxysmal non-kinesigenic dyskinesia MONDO:0700220 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:306644 disease related to transplantation Complication after organ transplantation MONDO:0700264 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:477647 type 1 interferonopathy Type 1 interferonopathy +MONDO:0700275 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1331 prostate cancer, hereditary Familial prostate cancer MONDO:0800025 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1519 Teebi hypertelorism syndrome 1 SPECC1L-related hypertelorism syndrome MONDO:0800026 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:661 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease Congenital central hypoventilation syndrome MONDO:0800027 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:313808 leukoencephalopathy, diffuse hereditary, with spheroids 1 Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia @@ -9101,6 +9119,7 @@ MONDO:0800029 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2032 i MONDO:0800030 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:436252 gastrointestinal defects and immunodeficiency syndrome 1 Combined immunodeficiency-enteropathy spectrum MONDO:0800043 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3206 Stüve-Wiedemann syndrome 1 Stüve-Wiedemann syndrome MONDO:0800044 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:404454 congenital disorder of deglycosylation 1 Alacrimia-choreoathetosis-liver dysfunction syndrome +MONDO:0800045 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:674762 autoinflammatory syndrome, familial, Behcet-like 1 Early-onset autoinflammatory syndrome due to A20 haploinsufficiency MONDO:0800046 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:171706 thyroid hormone metabolism, abnormal 1 Short stature-delayed bone age due to thyroid hormone metabolism deficiency MONDO:0800084 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:93444 obsolete primary bone dysplasia with increased bone density Primary bone dysplasia with increased bone density MONDO:0800085 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:93453 obsolete dysostosis with predominant craniofacial involvement Dysostosis with predominant craniofacial involvement @@ -9197,8 +9216,14 @@ MONDO:0859139 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:637013 MONDO:0859143 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:662234 Radio-Tartaglia syndrome Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome MONDO:0859147 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:659873 Marbach-Rustad progeroid syndrome Wormian bones-micrognathia-abnormal dentition-progeroid syndrome MONDO:0859200 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:641361 cerebellar ataxia, brain abnormalities, and cardiac conduction defects Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome +MONDO:0859206 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:659975 neurodevelopmental disorder with hearing loss and spasticity Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome MONDO:0859219 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:659642 Rauch-Steindl syndrome Rauch-Steindl syndrome +MONDO:0859257 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:660017 intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome +MONDO:0859267 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:661526 tumor predisposition syndrome 2 MBD4-related tumor predisposition syndrome +MONDO:0859297 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:662189 neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome MONDO:0859301 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:662207 neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome +MONDO:0859324 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:662762 developmental delay, language impairment, and ocular abnormalities Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome +MONDO:0859340 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:675216 spinocerebellar ataxia 27B, late-onset Spinocerebellar ataxia type 27B MONDO:0859692 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:623638 immune-mediated cerebellar ataxia Immune-mediated cerebellar ataxia MONDO:0859761 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:633021 SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome MONDO:0859762 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:633024 SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome @@ -9308,6 +9333,7 @@ MONDO:0958270 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orpha MONDO:0958273 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:652514 cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation MONDO:0958274 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:656085 benign atrophic papulosis Benign atrophic papulosis MONDO:0958275 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:656126 segmental spinal dysgenesis Segmental spinal dysgenesis +MONDO:0958278 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:664430 neurodevelopmental disorder with hypotonia and characteristic brain abnormalities Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome MONDO:0958342 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:637064 isolated optic nerve aplasia Isolated optic nerve aplasia MONDO:0958343 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:641380 PAPASH syndrome PAPASH syndrome MONDO:0958344 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:645188 spinal dermal sinus Spinal dermal sinus @@ -9340,6 +9366,52 @@ MONDO:0970961 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Or MONDO:0970962 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:645337 terminal myelocystocele Terminal myelocystocele MONDO:0970963 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:645354 saccular limited dorsal myeloschisis Saccular limited dorsal myeloschisis MONDO:0970964 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:645378 myelic limited dorsal malformation Myelic limited dorsal malformation +MONDO:0971007 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:659904 neuroocular syndrome 1 Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome +MONDO:0971047 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:659387 PRC-2 complex-related overgrowth spectrum PRC-2 complex-related overgrowth spectrum +MONDO:0971049 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:659626 single isolated optic neuritis Single isolated optic neuritis +MONDO:0971050 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:659634 relapsing isolated optic neuritis Relapsing isolated optic neuritis +MONDO:0971056 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:659744 ocular surface squamous neoplasia Ocular surface squamous neoplasia +MONDO:0971058 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:659759 verruga peruana Verruga peruana +MONDO:0971062 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:660012 developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation +MONDO:0971063 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:98808 autosomal dominant dopa-responsive dystonia Autosomal dominant dopa-responsive dystonia +MONDO:0971064 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:660021 orofacial clefting-cardiac anomalies-facial dysmorphism syndrome Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome +MONDO:0971066 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:661412 megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency +MONDO:0971068 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:662169 Phelan-McDermid syndrome due to 22q13.3 deletion Phelan-McDermid syndrome due to 22q13.3 deletion +MONDO:0971069 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:662172 Phelan-McDermid syndrome due to SHANK3 mutation Phelan-McDermid syndrome due to SHANK3 mutation +MONDO:0971077 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:662229 episodic memory defect leukoencephalopathy Episodic memory defect leukoencephalopathy +MONDO:0971080 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:662255 Grisel syndrome Grisel syndrome +MONDO:0971091 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:662934 acute megakaryoblastic leukemia in adult Acute megakaryoblastic leukemia in adult +MONDO:0971092 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:664372 soft and hard cleft palate Soft and hard cleft palate +MONDO:0971093 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:664377 MGP-related spondyloepiphyseal dysplasia MGP-related spondyloepiphyseal dysplasia +MONDO:0971094 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:664401 cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation +MONDO:0971095 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:664404 6q25.1 microdeletion syndrome 6q25.1 microdeletion syndrome +MONDO:0971103 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:664787 Nicolau syndrome Nicolau syndrome +MONDO:0971105 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:664912 neonatal renal venous thrombosis Neonatal renal venous thrombosis +MONDO:0971107 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:665044 common arterial trunk with aortic dominance Common arterial trunk with aortic dominance +MONDO:0971108 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:665058 common arterial trunk with pulmonary dominance and interrupted aortic arch Common arterial trunk with pulmonary dominance and interrupted aortic arch +MONDO:0971111 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:667678 intraoral basal cell carcinoma Intraoral basal cell carcinoma +MONDO:0971115 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:673470 benign vascular tumor Benign vascular tumor +MONDO:0971116 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:673473 borderline vascular tumor Borderline vascular tumor +MONDO:0971118 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:673585 pilocytic astrocytoma with histological features of anaplasia Pilocytic astrocytoma with histological features of anaplasia +MONDO:0971119 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:674499 proteoglycan-related bone disorder Proteoglycan-related bone disorder +MONDO:0971123 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:674924 isolated retinal racemose hemangioma Isolated retinal racemose hemangioma +MONDO:0971124 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:674930 perifoveal exudative vascular anomalous complex Perifoveal exudative vascular anomalous complex +MONDO:0971125 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:674935 torpedo maculopathy Torpedo Maculopathy +MONDO:0971126 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:674943 isolated angioid streaks Isolated angioid streaks +MONDO:0971127 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:674947 diffuse unilateral subacute neuroretinitis Diffuse unilateral subacute neuroretinitis +MONDO:0971128 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:674953 multiple evanescent white dot syndrome Multiple evanescent white dot syndrome +MONDO:0971129 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:674958 stellate multiform amelanotic choroidopathy Stellate multiform amelanotic choroidopathy +MONDO:0971130 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:674965 choroidal osteoma Choroidal osteoma +MONDO:0971131 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:674968 bilateral diffuse uveal melanocytic proliferation disease Bilateral diffuse uveal melanocytic proliferation disease +MONDO:0971133 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:675380 isolated segmental infantile hemangioma Isolated segmental infantile hemangioma +MONDO:0971137 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:675775 severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome +MONDO:0971138 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:675782 progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN +MONDO:0971140 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:675822 well-differentiated papillary mesothelial tumour of the pleura Well-differentiated papillary mesothelial tumour of the pleura +MONDO:0971141 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:675833 localized pleural mesothelioma Localized pleural mesothelioma +MONDO:0971142 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:675837 diffused pleural mesothelioma Diffused pleural mesothelioma +MONDO:0971143 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:675841 pleural mesothelioma in situ Pleural mesothelioma in situ +MONDO:0971145 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:676036 peritoneal mesothelioma in situ Peritoneal mesothelioma in situ +MONDO:0971154 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:659698 hepatic cutaneous porphyria Hepatic cutaneous porphyria MONDO:1040032 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:611223 EN1-related dorsoventral syndrome EN1-related dorsoventral syndrome MONDO:1040033 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:370980 congenital muscular dystrophy without intellectual disability Congenital muscular dystrophy without intellectual disability MONDO:8000006 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:51636 WHIM syndrome 1 WHIM syndrome diff --git a/src/ontology/imports/omo_import.owl b/src/ontology/imports/omo_import.owl index fd76b8aa8..7dd63e2ae 100644 --- a/src/ontology/imports/omo_import.owl +++ b/src/ontology/imports/omo_import.owl @@ -7,9 +7,9 @@ Prefix(rdfs:=) Ontology( - + Annotation( ) -Annotation(owl:versionInfo "2024-08-13") +Annotation(owl:versionInfo "2024-09-06") Declaration(Class()) Declaration(Class()) diff --git a/src/ontology/imports/ro_import.owl b/src/ontology/imports/ro_import.owl index c1bf9f57c..4fb095fa9 100644 --- a/src/ontology/imports/ro_import.owl +++ b/src/ontology/imports/ro_import.owl @@ -7,9 +7,9 @@ Prefix(rdfs:=) Ontology( - + Annotation( ) -Annotation(owl:versionInfo "2024-08-13") +Annotation(owl:versionInfo "2024-09-06") Declaration(Class()) Declaration(Class()) diff --git a/src/ontology/lexmatch/README.md b/src/ontology/lexmatch/README.md index 7268fbc60..a61958abf 100644 --- a/src/ontology/lexmatch/README.md +++ b/src/ontology/lexmatch/README.md @@ -4,53 +4,52 @@ * split-mapping-set: Unmapped mappings broken down by predicate_id ## Summary of mappings: * Number of mappings in [`unmapped_doid_lex`](unmapped_doid_lex.tsv): 50 - * Number of mappings in [`unmapped_doid_lex_exact`](unmapped_doid_lex.tsv): 36 + * Number of mappings in [`unmapped_doid_lex_exact`](unmapped_doid_lex.tsv): 18 * Number of mappings in [`unmapped_doid_mondo`](mondo-only/unmapped_doid_mondo.tsv): 33 * Number of mappings in [`unmapped_doid_mondo_exact`](mondo-only/unmapped_doid_mondo.tsv): 33 - * Number of mappings in [`unmapped_icd10cm_lex`](unmapped_icd10cm_lex.tsv): 2375 - * Number of mappings in [`unmapped_icd10cm_lex_exact`](unmapped_icd10cm_lex.tsv): 1973 + * Number of mappings in [`unmapped_icd10cm_lex`](unmapped_icd10cm_lex.tsv): 2376 + * Number of mappings in [`unmapped_icd10cm_lex_exact`](unmapped_icd10cm_lex.tsv): 1974 * Number of mappings in [`unmapped_icd10cm_mondo`](mondo-only/unmapped_icd10cm_mondo.tsv): 3 * Number of mappings in [`unmapped_icd10cm_mondo_exact`](mondo-only/unmapped_icd10cm_mondo.tsv): 3 - * Number of mappings in [`unmapped_icd10who_lex`](unmapped_icd10who_lex.tsv): 1651 - * Number of mappings in [`unmapped_icd10who_lex_exact`](unmapped_icd10who_lex.tsv): 909 + * Number of mappings in [`unmapped_icd10who_lex`](unmapped_icd10who_lex.tsv): 1649 + * Number of mappings in [`unmapped_icd10who_lex_exact`](unmapped_icd10who_lex.tsv): 907 * Number of mappings in [`unmapped_icd10who_mondo`](mondo-only/unmapped_icd10who_mondo.tsv): 2 * Number of mappings in [`unmapped_icd10who_mondo_exact`](mondo-only/unmapped_icd10who_mondo.tsv): 2 - * Number of mappings in [`unmapped_icd11foundation_lex`](unmapped_icd11foundation_lex.tsv): 5837 - * Number of mappings in [`unmapped_icd11foundation_lex_exact`](unmapped_icd11foundation_lex.tsv): 5837 + * Number of mappings in [`unmapped_icd11foundation_lex`](unmapped_icd11foundation_lex.tsv): 5833 + * Number of mappings in [`unmapped_icd11foundation_lex_exact`](unmapped_icd11foundation_lex.tsv): 5826 * Number of mappings in [`unmapped_icd11foundation_mondo`](mondo-only/unmapped_icd11foundation_mondo.tsv): 42 * Number of mappings in [`unmapped_icd11foundation_mondo_exact`](mondo-only/unmapped_icd11foundation_mondo.tsv): 42 - * Number of mappings in [`unmapped_ncit_lex`](unmapped_ncit_lex.tsv): 114 + * Number of mappings in [`unmapped_ncit_lex`](unmapped_ncit_lex.tsv): 116 * Number of mappings in [`unmapped_ncit_lex_exact`](unmapped_ncit_lex.tsv): 46 * Number of mappings in [`unmapped_ncit_mondo`](mondo-only/unmapped_ncit_mondo.tsv): 15 * Number of mappings in [`unmapped_ncit_mondo_exact`](mondo-only/unmapped_ncit_mondo.tsv): 15 * Number of mappings in [`unmapped_omim_lex`](unmapped_omim_lex.tsv): 1 * Number of mappings in [`unmapped_omim_lex_exact`](unmapped_omim_lex.tsv): 1 - * Number of mappings in [`unmapped_omim_mondo`](mondo-only/unmapped_omim_mondo.tsv): 118 - * Number of mappings in [`unmapped_omim_mondo_exact`](mondo-only/unmapped_omim_mondo.tsv): 118 - * Number of mappings in [`unmapped_ordo_lex`](unmapped_ordo_lex.tsv): 3 - * Number of mappings in [`unmapped_ordo_lex_exact`](unmapped_ordo_lex.tsv): 3 - * Number of mappings in [`unmapped_ordo_mondo`](mondo-only/unmapped_ordo_mondo.tsv): 868 - * Number of mappings in [`unmapped_ordo_mondo_exact`](mondo-only/unmapped_ordo_mondo.tsv): 868 + * Number of mappings in [`unmapped_omim_mondo`](mondo-only/unmapped_omim_mondo.tsv): 116 + * Number of mappings in [`unmapped_omim_mondo_exact`](mondo-only/unmapped_omim_mondo.tsv): 116 + * Number of mappings in [`unmapped_ordo_lex`](unmapped_ordo_lex.tsv): 1 + * Number of mappings in [`unmapped_ordo_lex_exact`](unmapped_ordo_lex.tsv): 1 + * Number of mappings in [`unmapped_ordo_mondo`](mondo-only/unmapped_ordo_mondo.tsv): 867 + * Number of mappings in [`unmapped_ordo_mondo_exact`](mondo-only/unmapped_ordo_mondo.tsv): 867 ## mondo_XXXXmatch_ontology - * Number of mappings in [`mondo_narrowmatch_icd10cm`](split-mapping-set/mondo_narrowmatch_icd10cm.tsv): 461 - * Number of mappings in [`mondo_exactmatch_icd10cm`](split-mapping-set/mondo_exactmatch_icd10cm.tsv): 2376 - * Number of mappings in [`mondo_closematch_icd10cm`](split-mapping-set/mondo_closematch_icd10cm.tsv): 6229 - * Number of mappings in [`mondo_broadmatch_icd10cm`](split-mapping-set/mondo_broadmatch_icd10cm.tsv): 112 - * Number of mappings in [`mondo_exactmatch_orphanet`](split-mapping-set/mondo_exactmatch_orphanet.tsv): 869 - * Number of mappings in [`mondo_closematch_orphanet`](split-mapping-set/mondo_closematch_orphanet.tsv): 114 - * Number of mappings in [`mondo_broadmatch_orphanet`](split-mapping-set/mondo_broadmatch_orphanet.tsv): 2 - * Number of mappings in [`mondo_exactmatch_ncit`](split-mapping-set/mondo_exactmatch_ncit.tsv): 127 + * Number of mappings in [`mondo_exactmatch_omimps`](split-mapping-set/mondo_exactmatch_omimps.tsv): 4 + * Number of mappings in [`mondo_exactmatch_omim`](split-mapping-set/mondo_exactmatch_omim.tsv): 111 + * Number of mappings in [`mondo_closematch_orphanet`](split-mapping-set/mondo_closematch_orphanet.tsv): 20 + * Number of mappings in [`mondo_exactmatch_orphanet`](split-mapping-set/mondo_exactmatch_orphanet.tsv): 866 * Number of mappings in [`mondo_closematch_ncit`](split-mapping-set/mondo_closematch_ncit.tsv): 75 + * Number of mappings in [`mondo_exactmatch_ncit`](split-mapping-set/mondo_exactmatch_ncit.tsv): 129 * Number of mappings in [`mondo_broadmatch_ncit`](split-mapping-set/mondo_broadmatch_ncit.tsv): 11 + * Number of mappings in [`mondo_closematch_icd10who`](split-mapping-set/mondo_closematch_icd10who.tsv): 328 + * Number of mappings in [`mondo_narrowmatch_icd10who`](split-mapping-set/mondo_narrowmatch_icd10who.tsv): 221 + * Number of mappings in [`mondo_exactmatch_icd10who`](split-mapping-set/mondo_exactmatch_icd10who.tsv): 1649 + * Number of mappings in [`mondo_broadmatch_icd10who`](split-mapping-set/mondo_broadmatch_icd10who.tsv): 60 + * Number of mappings in [`mondo_closematch_icd10cm`](split-mapping-set/mondo_closematch_icd10cm.tsv): 6224 + * Number of mappings in [`mondo_narrowmatch_icd10cm`](split-mapping-set/mondo_narrowmatch_icd10cm.tsv): 462 + * Number of mappings in [`mondo_exactmatch_icd10cm`](split-mapping-set/mondo_exactmatch_icd10cm.tsv): 2377 + * Number of mappings in [`mondo_broadmatch_icd10cm`](split-mapping-set/mondo_broadmatch_icd10cm.tsv): 112 + * Number of mappings in [`mondo_closematch_doid`](split-mapping-set/mondo_closematch_doid.tsv): 238 * Number of mappings in [`mondo_narrowmatch_doid`](split-mapping-set/mondo_narrowmatch_doid.tsv): 2 * Number of mappings in [`mondo_exactmatch_doid`](split-mapping-set/mondo_exactmatch_doid.tsv): 81 - * Number of mappings in [`mondo_closematch_doid`](split-mapping-set/mondo_closematch_doid.tsv): 268 - * Number of mappings in [`mondo_exactmatch_omimps`](split-mapping-set/mondo_exactmatch_omimps.tsv): 4 - * Number of mappings in [`mondo_exactmatch_icd11.foundation`](split-mapping-set/mondo_exactmatch_icd11.foundation.tsv): 6083 * Number of mappings in [`mondo_closematch_icd11.foundation`](split-mapping-set/mondo_closematch_icd11.foundation.tsv): 1706 + * Number of mappings in [`mondo_exactmatch_icd11.foundation`](split-mapping-set/mondo_exactmatch_icd11.foundation.tsv): 6079 * Number of mappings in [`mondo_broadmatch_icd11.foundation`](split-mapping-set/mondo_broadmatch_icd11.foundation.tsv): 163 - * Number of mappings in [`mondo_narrowmatch_icd10who`](split-mapping-set/mondo_narrowmatch_icd10who.tsv): 221 - * Number of mappings in [`mondo_exactmatch_icd10who`](split-mapping-set/mondo_exactmatch_icd10who.tsv): 1651 - * Number of mappings in [`mondo_closematch_icd10who`](split-mapping-set/mondo_closematch_icd10who.tsv): 328 - * Number of mappings in [`mondo_broadmatch_icd10who`](split-mapping-set/mondo_broadmatch_icd10who.tsv): 60 - * Number of mappings in [`mondo_exactmatch_omim`](split-mapping-set/mondo_exactmatch_omim.tsv): 113 diff --git a/src/ontology/lexmatch/all_exact.robot.tsv b/src/ontology/lexmatch/all_exact.robot.tsv index f2e1f5711..770002592 100644 --- a/src/ontology/lexmatch/all_exact.robot.tsv +++ b/src/ontology/lexmatch/all_exact.robot.tsv @@ -402,6 +402,13 @@ MONDO:0850301 MONDO:equivalentTo ICD10CM:L12 pemphigoid Pemphigoid semapv:Lexica MONDO:0859565 MONDO:equivalentTo ICD10CM:Q21.2 atrioventricular septal defect Atrioventricular septal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrioventricular septal defect MONDO:0956980 MONDO:equivalentTo ICD10CM:G21.4 vascular parkinsonism Vascular parkinsonism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vascular parkinsonism MONDO:0958083 MONDO:equivalentTo ICD10CM:Q89.4 conjoined twins Conjoined twins semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label conjoined twins +MONDO:0971058 MONDO:equivalentTo icd11.foundation:1480386521 verruga peruana Verruga peruana semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label verruga peruana +MONDO:0971063 MONDO:equivalentTo icd11.foundation:1143673207 autosomal dominant dopa-responsive dystonia Autosomal dominant dopa-responsive dystonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant dopa-responsive dystonia +MONDO:0971107 MONDO:equivalentTo icd11.foundation:551770382 common arterial trunk with aortic dominance Common arterial trunk with aortic dominance semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label common arterial trunk with aortic dominance +MONDO:0971108 MONDO:equivalentTo icd11.foundation:97579611 common arterial trunk with pulmonary dominance and interrupted aortic arch Common arterial trunk with pulmonary dominance and interrupted aortic arch semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label common arterial trunk with pulmonary dominance and interrupted aortic arch +MONDO:0971127 MONDO:equivalentTo icd11.foundation:1362820694 diffuse unilateral subacute neuroretinitis Diffuse unilateral subacute neuroretinitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse unilateral subacute neuroretinitis +MONDO:0971128 MONDO:equivalentTo icd11.foundation:1817745681 multiple evanescent white dot syndrome Multiple Evanescent White Dot Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple evanescent white dot syndrome +MONDO:1050000 MONDO:equivalentTo icd11.foundation:1245506993 sycosis barbae Sycosis barbae semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sycosis barbae MONDO:0003222 MONDO:equivalentTo NCIT:C4661 central nervous system melanocytic neoplasm Central Nervous System Melanocytic Neoplasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central nervous system melanocytic neoplasm MONDO:0004520 MONDO:equivalentTo NCIT:C192096 intratubular embryonal carcinoma Intratubular Embryonal Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intratubular embryonal carcinoma MONDO:0015301 MONDO:equivalentTo NCIT:C199391 primary cutaneous amyloidosis Primary Cutaneous Amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous amyloidosis @@ -469,21 +476,41 @@ MONDO:0958300 MONDO:equivalentTo NCIT:C178461 round cell sarcoma with EWSR1-PATZ MONDO:0958301 MONDO:equivalentTo NCIT:C178462 round cell sarcoma with FUS-NFATC2 gene fusion Round Cell Sarcoma with FUS-NFATC2 Gene Fusion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label round cell sarcoma with fus-nfatc2 gene fusion MONDO:0958302 MONDO:equivalentTo NCIT:C37210 TFEB-rearranged renal cell carcinoma TFEB-Rearranged Renal Cell Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tfeb-rearranged renal cell carcinoma MONDO:0958303 MONDO:equivalentTo NCIT:C189242 childhood renal cell carcinoma with MiT translocations Childhood Renal Cell Carcinoma with MiT Translocations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label childhood renal cell carcinoma with mit translocations +MONDO:0971056 MONDO:equivalentTo NCIT:C176043 ocular surface squamous neoplasia Ocular Surface Squamous Neoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ocular surface squamous neoplasia +MONDO:0971143 MONDO:equivalentTo NCIT:C183134 pleural mesothelioma in situ Pleural Mesothelioma In Situ semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pleural mesothelioma in situ MONDO:1040026 MONDO:equivalentTo NCIT:C3813 metastatic malignant neoplasm in the brain Metastatic Malignant Neoplasm in the Brain semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metastatic malignant neoplasm in the brain MONDO:0005641 MONDO:equivalentTo DOID:2934 aleutian mink disease aleutian mink disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aleutian mink disorder MONDO:0005676 MONDO:equivalentTo DOID:5154 borna disease borna disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label borna disorder MONDO:0007744 MONDO:equivalentTo DOID:0111368 cholesterol-ester transfer protein deficiency cholesterol-ester transfer protein deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholesterol-ester transfer protein deficiency -MONDO:0008265 MONDO:equivalentTo DOID:0060980 polycystic liver disease 1 polycystic liver disease 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:174050 -MONDO:0011731 MONDO:equivalentTo DOID:0070563 glucose-galactose malabsorption glucose-galactose malabsorption semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch mesh:c562602 -MONDO:0011731 MONDO:equivalentTo DOID:0070563 glucose-galactose malabsorption glucose-galactose malabsorption semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:606824 -MONDO:0014860 MONDO:equivalentTo DOID:0060975 polycystic liver disease 2 polycystic liver disease 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:617004 -MONDO:0020748 MONDO:equivalentTo DOID:0060983 sitosterolemia 2 sitosterolemia 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:618666 -MONDO:0030374 MONDO:equivalentTo DOID:0060973 WHIM syndrome 2 WHIM syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619407 -MONDO:0044327 MONDO:equivalentTo DOID:0060977 polycystic liver disease 4 with or without kidney cysts polycystic liver disease 4 with or without kidney cysts semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:617875 -MONDO:0054743 MONDO:equivalentTo DOID:0060976 polycystic liver disease 3 with or without kidney cysts polycystic liver disease 3 with or without kidney cysts semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:617874 -MONDO:0800029 MONDO:equivalentTo DOID:0060971 interstitial lung disease 2 interstitial lung disease 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:178500 -MONDO:0859329 MONDO:equivalentTo DOID:0060981 mosaic variegated aneuploidy syndrome 4 mosaic variegated aneuploidy syndrome 4 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620153 -MONDO:0859346 MONDO:equivalentTo DOID:0060982 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620189 +MONDO:0030716 MONDO:equivalentTo DOID:0070565 spermatogenic failure 66 spermatogenic failure 66 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619799 +MONDO:0030718 MONDO:equivalentTo DOID:0070566 spermatogenic failure 67 spermatogenic failure 67 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619803 +MONDO:0030721 MONDO:equivalentTo DOID:0070567 spermatogenic failure 68 spermatogenic failure 68 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619805 +MONDO:0030732 MONDO:equivalentTo DOID:0070568 spermatogenic failure 69 spermatogenic failure 69 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619826 +MONDO:0030733 MONDO:equivalentTo DOID:0070569 spermatogenic failure 70 spermatogenic failure 70 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619828 +MONDO:0030787 MONDO:equivalentTo DOID:0070570 spermatogenic failure 71 spermatogenic failure 71 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619831 +MONDO:0030809 MONDO:equivalentTo DOID:0070571 spermatogenic failure 72 spermatogenic failure 72 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619867 +MONDO:0030818 MONDO:equivalentTo DOID:0070572 spermatogenic failure 73 spermatogenic failure 73 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619878 +MONDO:0030972 MONDO:equivalentTo DOID:0070573 spermatogenic failure 74 spermatogenic failure 74 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619937 +MONDO:0030984 MONDO:equivalentTo DOID:0070574 spermatogenic failure 75 spermatogenic failure 75 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619949 +MONDO:0031077 MONDO:equivalentTo DOID:0070575 spermatogenic failure 76 spermatogenic failure 76 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620084 +MONDO:0031083 MONDO:equivalentTo DOID:0070576 spermatogenic failure 77 spermatogenic failure 77 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620103 +MONDO:0859338 MONDO:equivalentTo DOID:0070577 spermatogenic failure 78 spermatogenic failure 78 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620170 +MONDO:0859352 MONDO:equivalentTo DOID:0070578 spermatogenic failure 79 spermatogenic failure 79 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620196 +MONDO:0859364 MONDO:equivalentTo DOID:0070579 spermatogenic failure 80 spermatogenic failure 80 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620222 +MONDO:0859522 MONDO:equivalentTo DOID:0070580 spermatogenic failure 81 spermatogenic failure 81 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620277 +MONDO:0957249 MONDO:equivalentTo DOID:0070581 spermatogenic failure 82 spermatogenic failure 82 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620353 +MONDO:0957250 MONDO:equivalentTo DOID:0070582 spermatogenic failure 83 spermatogenic failure 83 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620354 +MONDO:0957301 MONDO:equivalentTo DOID:0070583 spermatogenic failure 84 spermatogenic failure 84 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620409 +MONDO:0957584 MONDO:equivalentTo DOID:0070584 spermatogenic failure 85 spermatogenic failure 85 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620490 +MONDO:0957593 MONDO:equivalentTo DOID:0070585 spermatogenic failure 86 spermatogenic failure 86 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620499 +MONDO:0957594 MONDO:equivalentTo DOID:0070586 spermatogenic failure 87 spermatogenic failure 87 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620500 +MONDO:0957821 MONDO:equivalentTo DOID:0070587 spermatogenic failure 88 spermatogenic failure 88 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620547 +MONDO:0958206 MONDO:equivalentTo DOID:0070588 spermatogenic failure 89 spermatogenic failure 89 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620705 +MONDO:0958242 MONDO:equivalentTo DOID:0070589 spermatogenic failure 90 spermatogenic failure 90 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620744 +MONDO:0970952 MONDO:equivalentTo DOID:0070590 spermatogenic failure 91 spermatogenic failure 91 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620838 +MONDO:0970999 MONDO:equivalentTo DOID:0070591 spermatogenic failure 92 spermatogenic failure 92 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620848 +MONDO:0971000 MONDO:equivalentTo DOID:0070592 spermatogenic failure 93 spermatogenic failure 93 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620849 +MONDO:0971002 MONDO:equivalentTo DOID:0070593 spermatogenic failure 94 spermatogenic failure 94 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620850 MONDO:0000088 MONDO:equivalentTo ICD10WHO:E30.1 precocious puberty Precocious puberty semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label precocious puberty MONDO:0000245 MONDO:equivalentTo ICD10WHO:B35.5 tinea imbricata Tinea imbricata semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tinea imbricata MONDO:0000367 MONDO:equivalentTo ICD10WHO:B68 taeniasis Taeniasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label taeniasis diff --git a/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo.tsv b/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo.tsv index 1408168c6..24fe46593 100644 --- a/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo.tsv +++ b/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo.tsv @@ -22,7 +22,6 @@ MONDO:0008204 obsolete patella aplasia, coxa vara, and tarsal synostosis OMIM:16 MONDO:0008415 obsolete Scholte syndrome OMIM:181515 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 MONDO:0008548 obsolete theophylline Biotransformation OMIM:187650 MONDO:equivalentTo theophylline biotransformation semapv:UnspecifiedMatching 0.5 MONDO:0008625 obsolete urate-binding globulin, decrease 1N OMIM:191530 MONDO:equivalentTo urate-binding globulin, decrease 1n semapv:UnspecifiedMatching 0.5 -MONDO:0009489 hereditary palmoplantar keratoderma, Gamborg-Nielsen type OMIM:244850 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 MONDO:0009535 obsolete lymphedema, congenital recessive OMIM:247440 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 MONDO:0009553 obsolete Plasmodium falciparum blood infection level OMIM:248310 MONDO:equivalentTo plasmodium falciparum blood infection level semapv:UnspecifiedMatching 0.5 MONDO:0009654 obsolete mucopolysaccharidoses, unclassified types OMIM:252700 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 @@ -43,7 +42,6 @@ MONDO:0011111 obsolete horns in sheep OMIM:601563 MONDO:equivalentTo semapv:Uns MONDO:0011543 obsolete BRCA3 OMIM:605365 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 MONDO:0011554 obsolete deafness, nonsyndromic, modifier 1 OMIM:605429 MONDO:equivalentTo deafness, autosomal recessive 26, modifier of semapv:UnspecifiedMatching 0.5 MONDO:0011809 obsolete mammographic density OMIM:607308 MONDO:equivalentTo mammographic density semapv:UnspecifiedMatching 0.5 -MONDO:0011893 autosomal dominant nonsyndromic hearing loss 52 OMIM:607683 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 MONDO:0011910 obsolete autosomal dominant limb-girdle muscular dystrophy type 1C OMIM:607801 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 MONDO:0012140 obsolete pulmonary function OMIM:608852 MONDO:equivalentTo pulmonary function semapv:UnspecifiedMatching 0.5 MONDO:0012148 obsolete drug metabolism, poor, CYP2D6-related OMIM:608902 MONDO:equivalentTo drug metabolism, poor, cyp2d6-related semapv:UnspecifiedMatching 0.5 diff --git a/src/ontology/lexmatch/mondo-only/unmapped_ordo_mondo.tsv b/src/ontology/lexmatch/mondo-only/unmapped_ordo_mondo.tsv index 059b428e8..587a8b1df 100644 --- a/src/ontology/lexmatch/mondo-only/unmapped_ordo_mondo.tsv +++ b/src/ontology/lexmatch/mondo-only/unmapped_ordo_mondo.tsv @@ -823,7 +823,6 @@ MONDO:0035013 obsolete genetic primary orthostatic disorder Orphanet:521232 MOND MONDO:0035014 obsolete primary orthostatic disorder Orphanet:521236 MONDO:equivalentTo Primary orthostatic disorder semapv:UnspecifiedMatching 0.5 MONDO:0035037 obsolete rare genetic disorder of the visual organs Orphanet:522504 MONDO:equivalentTo Rare genetic disorder of the visual organs semapv:UnspecifiedMatching 0.5 MONDO:0035075 obsolete secondary early-onset glaucoma of genetic origin Orphanet:522580 MONDO:equivalentTo Secondary early-onset glaucoma of genetic origin semapv:UnspecifiedMatching 0.5 -MONDO:0035162 obsolete PIK3CA-related overgrowth syndrome Orphanet:530313 MONDO:equivalentTo PIK3CA-related overgrowth syndrome semapv:UnspecifiedMatching 0.5 MONDO:0035274 obsolete anomaly of the coronary ostia Orphanet:542822 MONDO:equivalentTo Anomaly of the coronary ostia semapv:UnspecifiedMatching 0.5 MONDO:0035328 obsolete rare disorder due to poisoning Orphanet:556508 MONDO:equivalentTo Rare disorder due to poisoning semapv:UnspecifiedMatching 0.5 MONDO:0035426 obsolete rare disorder potentially indicated for transplant or complication after transplantation Orphanet:565779 MONDO:equivalentTo Rare disorder potentially indicated for transplant or complication after transplantation semapv:UnspecifiedMatching 0.5 diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_orphanet.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_orphanet.tsv deleted file mode 100644 index 08c0b0fcd..000000000 --- a/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_orphanet.tsv +++ /dev/null @@ -1,3 +0,0 @@ -subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string comment -MONDO:0006173 conjunctival squamous cell carcinoma skos:broadMatch Orphanet:659744 Ocular surface squamous neoplasia semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym ocular surface squamous neoplasia LEXMATCH -MONDO:0006173 conjunctival squamous cell carcinoma skos:broadMatch Orphanet:659744 Ocular surface squamous neoplasia semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label ocular surface squamous neoplasia LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_doid.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_doid.tsv index afeba413d..3eee73b4b 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_doid.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_doid.tsv @@ -1,12 +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:0000188 GLUT1 deficiency syndrome skos:closeMatch DOID:0070560 glucose transporter type 1 deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:606777 LEXMATCH -MONDO:0000188 GLUT1 deficiency syndrome skos:closeMatch DOID:0070560 glucose transporter type 1 deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omimps:606777 LEXMATCH -MONDO:0000188 GLUT1 deficiency syndrome skos:closeMatch DOID:0070560 glucose transporter type 1 deficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omimps:606777 LEXMATCH -MONDO:0000188 GLUT1 deficiency syndrome skos:closeMatch DOID:0070560 glucose transporter type 1 deficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omimps:606777 LEXMATCH -MONDO:0000188 GLUT1 deficiency syndrome skos:closeMatch DOID:0070560 glucose transporter type 1 deficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omimps:606777 LEXMATCH -MONDO:0001083 Fanconi renotubular syndrome skos:closeMatch DOID:0070562 Fanconi-Bickel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005198 LEXMATCH -MONDO:0001083 Fanconi renotubular syndrome skos:closeMatch DOID:0070562 Fanconi-Bickel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch mesh:d005198 LEXMATCH -MONDO:0001083 Fanconi renotubular syndrome skos:closeMatch DOID:0070562 Fanconi-Bickel syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:d005198 LEXMATCH MONDO:0001516 spinal muscular atrophy skos:closeMatch DOID:0060160 childhood spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:7674 LEXMATCH MONDO:0004037 retinal edema skos:closeMatch DOID:146 papilledema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010211 LEXMATCH MONDO:0005641 aleutian mink disease skos:closeMatch DOID:2934 aleutian mink disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000453 LEXMATCH @@ -30,37 +22,8 @@ MONDO:0006879 optic papillitis skos:closeMatch DOID:146 papilledema semapv:Lexic MONDO:0007044 Acrodysostosis 1 with or without hormone resistance skos:closeMatch DOID:14669 acrodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101800 LEXMATCH MONDO:0007044 Acrodysostosis 1 with or without hormone resistance skos:closeMatch DOID:14669 acrodysostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:101800 LEXMATCH MONDO:0007044 Acrodysostosis 1 with or without hormone resistance skos:closeMatch DOID:14669 acrodysostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:101800 LEXMATCH -MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 skos:closeMatch DOID:0070552 epidermolytic palmoplantar keratoderma 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:144200 LEXMATCH -MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 skos:closeMatch DOID:0070552 epidermolytic palmoplantar keratoderma 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:144200 LEXMATCH -MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 skos:closeMatch DOID:0070552 epidermolytic palmoplantar keratoderma 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:144200 LEXMATCH -MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 skos:closeMatch DOID:0070552 epidermolytic palmoplantar keratoderma 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:144200 LEXMATCH -MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 skos:closeMatch DOID:0070552 epidermolytic palmoplantar keratoderma 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:144200 LEXMATCH -MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch DOID:0070553 focal palmoplantar and gingival keratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:3098 LEXMATCH -MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch DOID:0070553 focal palmoplantar and gingival keratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536157 LEXMATCH -MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch DOID:0070553 focal palmoplantar and gingival keratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148730 LEXMATCH -MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch DOID:0070553 focal palmoplantar and gingival keratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch gard:3098 LEXMATCH -MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch DOID:0070553 focal palmoplantar and gingival keratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch mesh:c536157 LEXMATCH -MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch DOID:0070553 focal palmoplantar and gingival keratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:148730 LEXMATCH -MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch DOID:0070553 focal palmoplantar and gingival keratosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym focal palmoplantar and gingival hyperkeratosis syndrome LEXMATCH -MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch DOID:0070553 focal palmoplantar and gingival keratosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:c536157 LEXMATCH -MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch DOID:0070553 focal palmoplantar and gingival keratosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:148730 LEXMATCH -MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch DOID:0070553 focal palmoplantar and gingival keratosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:148730 LEXMATCH -MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch DOID:0070553 focal palmoplantar and gingival keratosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:148730 LEXMATCH MONDO:0008227 peripheral dysostosis skos:closeMatch DOID:14669 acrodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:2015 LEXMATCH -MONDO:0008265 polycystic liver disease 1 skos:closeMatch DOID:0060980 polycystic liver disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174050 LEXMATCH -MONDO:0008265 polycystic liver disease 1 skos:closeMatch DOID:0060980 polycystic liver disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:174050 LEXMATCH -MONDO:0008265 polycystic liver disease 1 skos:closeMatch DOID:0060980 polycystic liver disease 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:174050 LEXMATCH -MONDO:0008265 polycystic liver disease 1 skos:closeMatch DOID:0060980 polycystic liver disease 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:174050 LEXMATCH -MONDO:0008265 polycystic liver disease 1 skos:closeMatch DOID:0060980 polycystic liver disease 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:174050 LEXMATCH -MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch DOID:0070562 Fanconi-Bickel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:2268 LEXMATCH -MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch DOID:0070562 Fanconi-Bickel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227810 LEXMATCH -MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch DOID:0070562 Fanconi-Bickel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch gard:2268 LEXMATCH -MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch DOID:0070562 Fanconi-Bickel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:227810 LEXMATCH -MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch DOID:0070562 Fanconi-Bickel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder xi LEXMATCH -MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch DOID:0070562 Fanconi-Bickel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogenosis, fanconi type LEXMATCH -MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch DOID:0070562 Fanconi-Bickel syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:227810 LEXMATCH -MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch DOID:0070562 Fanconi-Bickel syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:227810 LEXMATCH -MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch DOID:0070562 Fanconi-Bickel syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:227810 LEXMATCH +MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium skos:closeMatch DOID:0070564 dialysis disequilibrium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasExactSynonym oio:hasRelatedSynonym dysequilibrium syndrome LEXMATCH MONDO:0009727 atelosteogenesis type II skos:closeMatch DOID:14687 diastrophic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icd10cm:q77.5 LEXMATCH MONDO:0009917 pseudohypoaldosteronism, type IB1, autosomal recessive skos:closeMatch DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:4552 LEXMATCH MONDO:0009917 pseudohypoaldosteronism, type IB1, autosomal recessive skos:closeMatch DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264350 LEXMATCH @@ -71,198 +34,205 @@ MONDO:0009917 pseudohypoaldosteronism, type IB1, autosomal recessive skos:closeM MONDO:0010172 VACTERL with hydrocephalus skos:closeMatch DOID:14679 VACTERL association semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276950 LEXMATCH MONDO:0010172 VACTERL with hydrocephalus skos:closeMatch DOID:14679 VACTERL association semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:276950 LEXMATCH MONDO:0010172 VACTERL with hydrocephalus skos:closeMatch DOID:14679 VACTERL association semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:276950 LEXMATCH -MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:closeMatch DOID:0070550 KRT1-related nonepidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:5186 LEXMATCH -MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:closeMatch DOID:0070550 KRT1-related nonepidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600962 LEXMATCH -MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:closeMatch DOID:0070550 KRT1-related nonepidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch gard:5186 LEXMATCH -MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:closeMatch DOID:0070550 KRT1-related nonepidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:600962 LEXMATCH -MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:closeMatch DOID:0070550 KRT1-related nonepidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600962 LEXMATCH -MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:closeMatch DOID:0070550 KRT1-related nonepidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:600962 LEXMATCH -MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:closeMatch DOID:0070550 KRT1-related nonepidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:600962 LEXMATCH -MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch DOID:0070560 glucose transporter type 1 deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536830 LEXMATCH -MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch DOID:0070560 glucose transporter type 1 deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch mesh:c536830 LEXMATCH -MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch DOID:0070560 glucose transporter type 1 deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glucose transporter type 1 deficiency syndrome LEXMATCH -MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch DOID:0070560 glucose transporter type 1 deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glucose transporter type 1 deficiency syndrome LEXMATCH -MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch DOID:0070560 glucose transporter type 1 deficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:c536830 LEXMATCH -MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch DOID:0070561 glucose transporter type 1 deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:9265 LEXMATCH -MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch DOID:0070561 glucose transporter type 1 deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606777 LEXMATCH -MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch DOID:0070561 glucose transporter type 1 deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch gard:9265 LEXMATCH -MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch DOID:0070561 glucose transporter type 1 deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:606777 LEXMATCH -MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch DOID:0070561 glucose transporter type 1 deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glut1 deficiency syndrome type 1 LEXMATCH -MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch DOID:0070561 glucose transporter type 1 deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606777 LEXMATCH -MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch DOID:0070561 glucose transporter type 1 deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:606777 LEXMATCH -MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch DOID:0070561 glucose transporter type 1 deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:606777 LEXMATCH -MONDO:0011731 glucose-galactose malabsorption skos:closeMatch DOID:0070563 glucose-galactose malabsorption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:6521 LEXMATCH -MONDO:0011731 glucose-galactose malabsorption skos:closeMatch DOID:0070563 glucose-galactose malabsorption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c562602 LEXMATCH -MONDO:0011731 glucose-galactose malabsorption skos:closeMatch DOID:0070563 glucose-galactose malabsorption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606824 LEXMATCH -MONDO:0011731 glucose-galactose malabsorption skos:closeMatch DOID:0070563 glucose-galactose malabsorption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch gard:6521 LEXMATCH -MONDO:0011731 glucose-galactose malabsorption skos:closeMatch DOID:0070563 glucose-galactose malabsorption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch mesh:c562602 LEXMATCH -MONDO:0011731 glucose-galactose malabsorption skos:closeMatch DOID:0070563 glucose-galactose malabsorption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:606824 LEXMATCH -MONDO:0011731 glucose-galactose malabsorption skos:closeMatch DOID:0070563 glucose-galactose malabsorption semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym monosaccharide malabsorption LEXMATCH -MONDO:0011731 glucose-galactose malabsorption skos:closeMatch DOID:0070563 glucose-galactose malabsorption semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:c562602 LEXMATCH -MONDO:0011731 glucose-galactose malabsorption skos:closeMatch DOID:0070563 glucose-galactose malabsorption semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606824 LEXMATCH -MONDO:0011731 glucose-galactose malabsorption skos:closeMatch DOID:0070563 glucose-galactose malabsorption semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:606824 LEXMATCH -MONDO:0011731 glucose-galactose malabsorption skos:closeMatch DOID:0070563 glucose-galactose malabsorption semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:606824 LEXMATCH -MONDO:0012430 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 skos:closeMatch DOID:0070557 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567656 LEXMATCH -MONDO:0012430 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 skos:closeMatch DOID:0070557 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610185 LEXMATCH -MONDO:0012430 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 skos:closeMatch DOID:0070557 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch mesh:c567656 LEXMATCH -MONDO:0012430 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 skos:closeMatch DOID:0070557 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:610185 LEXMATCH -MONDO:0012430 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 skos:closeMatch DOID:0070557 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia and mental retardation with or without quadrupedal locomotion type 2 LEXMATCH -MONDO:0012430 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 skos:closeMatch DOID:0070557 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:c567656 LEXMATCH -MONDO:0012430 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 skos:closeMatch DOID:0070557 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610185 LEXMATCH -MONDO:0012430 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 skos:closeMatch DOID:0070557 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:610185 LEXMATCH -MONDO:0012430 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 skos:closeMatch DOID:0070557 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:610185 LEXMATCH -MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 skos:closeMatch DOID:0070547 primary pigmented nodular adrenocortical disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c566472 LEXMATCH -MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 skos:closeMatch DOID:0070547 primary pigmented nodular adrenocortical disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610475 LEXMATCH -MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 skos:closeMatch DOID:0070547 primary pigmented nodular adrenocortical disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch mesh:c566472 LEXMATCH -MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 skos:closeMatch DOID:0070547 primary pigmented nodular adrenocortical disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:610475 LEXMATCH -MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 skos:closeMatch DOID:0070547 primary pigmented nodular adrenocortical disease 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:c566472 LEXMATCH -MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 skos:closeMatch DOID:0070547 primary pigmented nodular adrenocortical disease 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610475 LEXMATCH -MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 skos:closeMatch DOID:0070547 primary pigmented nodular adrenocortical disease 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:610475 LEXMATCH -MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 skos:closeMatch DOID:0070547 primary pigmented nodular adrenocortical disease 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:610475 LEXMATCH -MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 skos:closeMatch DOID:0070546 primary pigmented nodular adrenocortical disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c566469 LEXMATCH -MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 skos:closeMatch DOID:0070546 primary pigmented nodular adrenocortical disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610489 LEXMATCH -MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 skos:closeMatch DOID:0070546 primary pigmented nodular adrenocortical disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch mesh:c566469 LEXMATCH -MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 skos:closeMatch DOID:0070546 primary pigmented nodular adrenocortical disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:610489 LEXMATCH -MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 skos:closeMatch DOID:0070546 primary pigmented nodular adrenocortical disease 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:c566469 LEXMATCH -MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 skos:closeMatch DOID:0070546 primary pigmented nodular adrenocortical disease 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610489 LEXMATCH -MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 skos:closeMatch DOID:0070546 primary pigmented nodular adrenocortical disease 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:610489 LEXMATCH -MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 skos:closeMatch DOID:0070546 primary pigmented nodular adrenocortical disease 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:610489 LEXMATCH -MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:closeMatch DOID:0070562 Fanconi-Bickel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder xi LEXMATCH -MONDO:0013188 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 skos:closeMatch DOID:0070558 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567690 LEXMATCH -MONDO:0013188 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 skos:closeMatch DOID:0070558 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613227 LEXMATCH -MONDO:0013188 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 skos:closeMatch DOID:0070558 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch mesh:c567690 LEXMATCH -MONDO:0013188 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 skos:closeMatch DOID:0070558 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:613227 LEXMATCH -MONDO:0013188 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 skos:closeMatch DOID:0070558 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia and mental retardation with or without quadrupedal locomotion type 3 LEXMATCH -MONDO:0013188 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 skos:closeMatch DOID:0070558 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:c567690 LEXMATCH -MONDO:0013188 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 skos:closeMatch DOID:0070558 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613227 LEXMATCH -MONDO:0013188 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 skos:closeMatch DOID:0070558 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:613227 LEXMATCH -MONDO:0013188 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 skos:closeMatch DOID:0070558 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:613227 LEXMATCH -MONDO:0013616 pigmented nodular adrenocortical disease, primary, 3 skos:closeMatch DOID:0070548 primary pigmented nodular adrenocortical disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614190 LEXMATCH -MONDO:0013616 pigmented nodular adrenocortical disease, primary, 3 skos:closeMatch DOID:0070548 primary pigmented nodular adrenocortical disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:614190 LEXMATCH -MONDO:0013616 pigmented nodular adrenocortical disease, primary, 3 skos:closeMatch DOID:0070548 primary pigmented nodular adrenocortical disease 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614190 LEXMATCH -MONDO:0013616 pigmented nodular adrenocortical disease, primary, 3 skos:closeMatch DOID:0070548 primary pigmented nodular adrenocortical disease 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:614190 LEXMATCH -MONDO:0013616 pigmented nodular adrenocortical disease, primary, 3 skos:closeMatch DOID:0070548 primary pigmented nodular adrenocortical disease 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:614190 LEXMATCH MONDO:0013822 acrodysostosis 2 with or without hormone resistance skos:closeMatch DOID:14669 acrodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614613 LEXMATCH MONDO:0013822 acrodysostosis 2 with or without hormone resistance skos:closeMatch DOID:14669 acrodysostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614613 LEXMATCH MONDO:0013822 acrodysostosis 2 with or without hormone resistance skos:closeMatch DOID:14669 acrodysostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:614613 LEXMATCH -MONDO:0014104 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 skos:closeMatch DOID:0070559 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615268 LEXMATCH -MONDO:0014104 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 skos:closeMatch DOID:0070559 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:615268 LEXMATCH -MONDO:0014104 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 skos:closeMatch DOID:0070559 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia and mental retardation with or without quadrupedal locomotion type 4 LEXMATCH -MONDO:0014104 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 skos:closeMatch DOID:0070559 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615268 LEXMATCH -MONDO:0014104 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 skos:closeMatch DOID:0070559 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:615268 LEXMATCH -MONDO:0014104 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 skos:closeMatch DOID:0070559 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:615268 LEXMATCH -MONDO:0014272 palmoplantar keratoderma, Nagashima type skos:closeMatch DOID:0070555 Nagashima-type palmoplantar keratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615598 LEXMATCH -MONDO:0014272 palmoplantar keratoderma, Nagashima type skos:closeMatch DOID:0070555 Nagashima-type palmoplantar keratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:615598 LEXMATCH -MONDO:0014272 palmoplantar keratoderma, Nagashima type skos:closeMatch DOID:0070555 Nagashima-type palmoplantar keratosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615598 LEXMATCH -MONDO:0014272 palmoplantar keratoderma, Nagashima type skos:closeMatch DOID:0070555 Nagashima-type palmoplantar keratosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:615598 LEXMATCH -MONDO:0014272 palmoplantar keratoderma, Nagashima type skos:closeMatch DOID:0070555 Nagashima-type palmoplantar keratosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:615598 LEXMATCH -MONDO:0014359 pigmented nodular adrenocortical disease, primary, 4 skos:closeMatch DOID:0070549 primary pigmented nodular adrenocortical disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615830 LEXMATCH -MONDO:0014359 pigmented nodular adrenocortical disease, primary, 4 skos:closeMatch DOID:0070549 primary pigmented nodular adrenocortical disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:615830 LEXMATCH -MONDO:0014359 pigmented nodular adrenocortical disease, primary, 4 skos:closeMatch DOID:0070549 primary pigmented nodular adrenocortical disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 19p13 duplication syndrome LEXMATCH -MONDO:0014359 pigmented nodular adrenocortical disease, primary, 4 skos:closeMatch DOID:0070549 primary pigmented nodular adrenocortical disease 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615830 LEXMATCH -MONDO:0014359 pigmented nodular adrenocortical disease, primary, 4 skos:closeMatch DOID:0070549 primary pigmented nodular adrenocortical disease 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:615830 LEXMATCH -MONDO:0014359 pigmented nodular adrenocortical disease, primary, 4 skos:closeMatch DOID:0070549 primary pigmented nodular adrenocortical disease 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:615830 LEXMATCH -MONDO:0014492 wooly hair-palmoplantar keratoderma syndrome skos:closeMatch DOID:0070554 palmoplantar keratoderma and woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616099 LEXMATCH -MONDO:0014492 wooly hair-palmoplantar keratoderma syndrome skos:closeMatch DOID:0070554 palmoplantar keratoderma and woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:616099 LEXMATCH -MONDO:0014492 wooly hair-palmoplantar keratoderma syndrome skos:closeMatch DOID:0070554 palmoplantar keratoderma and woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym palmoplantar keratoderma and woolly hair LEXMATCH -MONDO:0014492 wooly hair-palmoplantar keratoderma syndrome skos:closeMatch DOID:0070554 palmoplantar keratoderma and woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label palmoplantar keratoderma and woolly hair LEXMATCH -MONDO:0014492 wooly hair-palmoplantar keratoderma syndrome skos:closeMatch DOID:0070554 palmoplantar keratoderma and woolly hair semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616099 LEXMATCH -MONDO:0014492 wooly hair-palmoplantar keratoderma syndrome skos:closeMatch DOID:0070554 palmoplantar keratoderma and woolly hair semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:616099 LEXMATCH -MONDO:0014492 wooly hair-palmoplantar keratoderma syndrome skos:closeMatch DOID:0070554 palmoplantar keratoderma and woolly hair semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:616099 LEXMATCH -MONDO:0014860 polycystic liver disease 2 skos:closeMatch DOID:0060975 polycystic liver disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617004 LEXMATCH -MONDO:0014860 polycystic liver disease 2 skos:closeMatch DOID:0060975 polycystic liver disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:617004 LEXMATCH -MONDO:0014860 polycystic liver disease 2 skos:closeMatch DOID:0060975 polycystic liver disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycystic liver disorder type 2 with or without kidney cysts LEXMATCH -MONDO:0014860 polycystic liver disease 2 skos:closeMatch DOID:0060975 polycystic liver disease 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617004 LEXMATCH -MONDO:0014860 polycystic liver disease 2 skos:closeMatch DOID:0060975 polycystic liver disease 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617004 LEXMATCH -MONDO:0014860 polycystic liver disease 2 skos:closeMatch DOID:0060975 polycystic liver disease 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:617004 LEXMATCH MONDO:0018116 galactosemia skos:closeMatch DOID:14695 galactokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005693 LEXMATCH MONDO:0018116 galactosemia skos:closeMatch DOID:14695 galactokinase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:d005693 LEXMATCH MONDO:0018638 pseudohypoaldosteronism skos:closeMatch DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011546 LEXMATCH MONDO:0018638 pseudohypoaldosteronism skos:closeMatch DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:d011546 LEXMATCH MONDO:0019287 ectodermal dysplasia syndrome skos:closeMatch DOID:14693 Clouston syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004476 LEXMATCH MONDO:0019287 ectodermal dysplasia syndrome skos:closeMatch DOID:14693 Clouston syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:d004476 LEXMATCH -MONDO:0020748 sitosterolemia 2 skos:closeMatch DOID:0060983 sitosterolemia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618666 LEXMATCH -MONDO:0020748 sitosterolemia 2 skos:closeMatch DOID:0060983 sitosterolemia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:618666 LEXMATCH -MONDO:0020748 sitosterolemia 2 skos:closeMatch DOID:0060983 sitosterolemia 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618666 LEXMATCH -MONDO:0020748 sitosterolemia 2 skos:closeMatch DOID:0060983 sitosterolemia 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618666 LEXMATCH -MONDO:0020748 sitosterolemia 2 skos:closeMatch DOID:0060983 sitosterolemia 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:618666 LEXMATCH MONDO:0020796 Silver-Russell syndrome 1 skos:closeMatch DOID:14681 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180860 LEXMATCH MONDO:0020796 Silver-Russell syndrome 1 skos:closeMatch DOID:14681 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:180860 LEXMATCH MONDO:0020796 Silver-Russell syndrome 1 skos:closeMatch DOID:14681 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:180860 LEXMATCH MONDO:0020796 Silver-Russell syndrome 1 skos:closeMatch DOID:14681 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:180860 LEXMATCH MONDO:0020796 Silver-Russell syndrome 1 skos:closeMatch DOID:14681 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:180860 LEXMATCH -MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:closeMatch DOID:0070556 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224050 LEXMATCH -MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:closeMatch DOID:0070556 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:224050 LEXMATCH -MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:closeMatch DOID:0070556 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia and mental retardation with or without quadrupedal locomotion type 1 LEXMATCH -MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:closeMatch DOID:0070556 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 1 LEXMATCH -MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:closeMatch DOID:0070556 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar hypoplasia, vldlr-associated LEXMATCH -MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:closeMatch DOID:0070556 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:224050 LEXMATCH -MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:closeMatch DOID:0070556 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:224050 LEXMATCH -MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:closeMatch DOID:0070556 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:224050 LEXMATCH -MONDO:0030374 WHIM syndrome 2 skos:closeMatch DOID:0060973 WHIM syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619407 LEXMATCH -MONDO:0030374 WHIM syndrome 2 skos:closeMatch DOID:0060973 WHIM syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619407 LEXMATCH -MONDO:0030374 WHIM syndrome 2 skos:closeMatch DOID:0060973 WHIM syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619407 LEXMATCH -MONDO:0030374 WHIM syndrome 2 skos:closeMatch DOID:0060973 WHIM syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619407 LEXMATCH -MONDO:0030374 WHIM syndrome 2 skos:closeMatch DOID:0060973 WHIM syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619407 LEXMATCH -MONDO:0032800 robinow syndrome, autosomal recessive 2 skos:closeMatch DOID:0060974 autosomal recessive Robinow syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618529 LEXMATCH -MONDO:0032800 robinow syndrome, autosomal recessive 2 skos:closeMatch DOID:0060974 autosomal recessive Robinow syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:618529 LEXMATCH -MONDO:0032800 robinow syndrome, autosomal recessive 2 skos:closeMatch DOID:0060974 autosomal recessive Robinow syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618529 LEXMATCH -MONDO:0032800 robinow syndrome, autosomal recessive 2 skos:closeMatch DOID:0060974 autosomal recessive Robinow syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618529 LEXMATCH -MONDO:0032800 robinow syndrome, autosomal recessive 2 skos:closeMatch DOID:0060974 autosomal recessive Robinow syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:618529 LEXMATCH -MONDO:0044325 Fanconi anemia, complementation group W skos:closeMatch DOID:0060978 Fanconi anemia complementation group W semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617784 LEXMATCH -MONDO:0044325 Fanconi anemia, complementation group W skos:closeMatch DOID:0060978 Fanconi anemia complementation group W semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:617784 LEXMATCH -MONDO:0044325 Fanconi anemia, complementation group W skos:closeMatch DOID:0060978 Fanconi anemia complementation group W semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617784 LEXMATCH -MONDO:0044325 Fanconi anemia, complementation group W skos:closeMatch DOID:0060978 Fanconi anemia complementation group W semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617784 LEXMATCH -MONDO:0044325 Fanconi anemia, complementation group W skos:closeMatch DOID:0060978 Fanconi anemia complementation group W semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:617784 LEXMATCH -MONDO:0044327 polycystic liver disease 4 with or without kidney cysts skos:closeMatch DOID:0060977 polycystic liver disease 4 with or without kidney cysts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617875 LEXMATCH -MONDO:0044327 polycystic liver disease 4 with or without kidney cysts skos:closeMatch DOID:0060977 polycystic liver disease 4 with or without kidney cysts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:617875 LEXMATCH -MONDO:0044327 polycystic liver disease 4 with or without kidney cysts skos:closeMatch DOID:0060977 polycystic liver disease 4 with or without kidney cysts semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617875 LEXMATCH -MONDO:0044327 polycystic liver disease 4 with or without kidney cysts skos:closeMatch DOID:0060977 polycystic liver disease 4 with or without kidney cysts semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617875 LEXMATCH -MONDO:0044327 polycystic liver disease 4 with or without kidney cysts skos:closeMatch DOID:0060977 polycystic liver disease 4 with or without kidney cysts semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:617875 LEXMATCH -MONDO:0054743 polycystic liver disease 3 with or without kidney cysts skos:closeMatch DOID:0060976 polycystic liver disease 3 with or without kidney cysts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617874 LEXMATCH -MONDO:0054743 polycystic liver disease 3 with or without kidney cysts skos:closeMatch DOID:0060976 polycystic liver disease 3 with or without kidney cysts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:617874 LEXMATCH -MONDO:0054743 polycystic liver disease 3 with or without kidney cysts skos:closeMatch DOID:0060976 polycystic liver disease 3 with or without kidney cysts semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617874 LEXMATCH -MONDO:0054743 polycystic liver disease 3 with or without kidney cysts skos:closeMatch DOID:0060976 polycystic liver disease 3 with or without kidney cysts semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617874 LEXMATCH -MONDO:0054743 polycystic liver disease 3 with or without kidney cysts skos:closeMatch DOID:0060976 polycystic liver disease 3 with or without kidney cysts semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:617874 LEXMATCH -MONDO:0054748 Fanconi anemia, complementation group S skos:closeMatch DOID:0060979 Fanconi anemia complementation group S semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617883 LEXMATCH -MONDO:0054748 Fanconi anemia, complementation group S skos:closeMatch DOID:0060979 Fanconi anemia complementation group S semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:617883 LEXMATCH -MONDO:0054748 Fanconi anemia, complementation group S skos:closeMatch DOID:0060979 Fanconi anemia complementation group S semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617883 LEXMATCH -MONDO:0054748 Fanconi anemia, complementation group S skos:closeMatch DOID:0060979 Fanconi anemia complementation group S semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617883 LEXMATCH -MONDO:0054748 Fanconi anemia, complementation group S skos:closeMatch DOID:0060979 Fanconi anemia complementation group S semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:617883 LEXMATCH -MONDO:0800029 interstitial lung disease 2 skos:closeMatch DOID:0060971 interstitial lung disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178500 LEXMATCH -MONDO:0800029 interstitial lung disease 2 skos:closeMatch DOID:0060971 interstitial lung disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:178500 LEXMATCH -MONDO:0800029 interstitial lung disease 2 skos:closeMatch DOID:0060971 interstitial lung disease 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:178500 LEXMATCH -MONDO:0800029 interstitial lung disease 2 skos:closeMatch DOID:0060971 interstitial lung disease 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:178500 LEXMATCH -MONDO:0800029 interstitial lung disease 2 skos:closeMatch DOID:0060971 interstitial lung disease 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:178500 LEXMATCH +MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:closeMatch DOID:0070564 dialysis disequilibrium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasRelatedSynonym dysequilibrium syndrome LEXMATCH +MONDO:0024773 spermatogenic failure, X-linked, 4 skos:closeMatch DOID:0070595 X-linked spermatogenic failure 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301077 LEXMATCH +MONDO:0024773 spermatogenic failure, X-linked, 4 skos:closeMatch DOID:0070595 X-linked spermatogenic failure 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:301077 LEXMATCH +MONDO:0024773 spermatogenic failure, X-linked, 4 skos:closeMatch DOID:0070595 X-linked spermatogenic failure 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301077 LEXMATCH +MONDO:0024773 spermatogenic failure, X-linked, 4 skos:closeMatch DOID:0070595 X-linked spermatogenic failure 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:301077 LEXMATCH +MONDO:0024773 spermatogenic failure, X-linked, 4 skos:closeMatch DOID:0070595 X-linked spermatogenic failure 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:301077 LEXMATCH +MONDO:0030716 spermatogenic failure 66 skos:closeMatch DOID:0070565 spermatogenic failure 66 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619799 LEXMATCH +MONDO:0030716 spermatogenic failure 66 skos:closeMatch DOID:0070565 spermatogenic failure 66 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619799 LEXMATCH +MONDO:0030716 spermatogenic failure 66 skos:closeMatch DOID:0070565 spermatogenic failure 66 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619799 LEXMATCH +MONDO:0030716 spermatogenic failure 66 skos:closeMatch DOID:0070565 spermatogenic failure 66 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619799 LEXMATCH +MONDO:0030716 spermatogenic failure 66 skos:closeMatch DOID:0070565 spermatogenic failure 66 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619799 LEXMATCH +MONDO:0030718 spermatogenic failure 67 skos:closeMatch DOID:0070566 spermatogenic failure 67 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619803 LEXMATCH +MONDO:0030718 spermatogenic failure 67 skos:closeMatch DOID:0070566 spermatogenic failure 67 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619803 LEXMATCH +MONDO:0030718 spermatogenic failure 67 skos:closeMatch DOID:0070566 spermatogenic failure 67 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619803 LEXMATCH +MONDO:0030718 spermatogenic failure 67 skos:closeMatch DOID:0070566 spermatogenic failure 67 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619803 LEXMATCH +MONDO:0030718 spermatogenic failure 67 skos:closeMatch DOID:0070566 spermatogenic failure 67 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619803 LEXMATCH +MONDO:0030721 spermatogenic failure 68 skos:closeMatch DOID:0070567 spermatogenic failure 68 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619805 LEXMATCH +MONDO:0030721 spermatogenic failure 68 skos:closeMatch DOID:0070567 spermatogenic failure 68 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619805 LEXMATCH +MONDO:0030721 spermatogenic failure 68 skos:closeMatch DOID:0070567 spermatogenic failure 68 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619805 LEXMATCH +MONDO:0030721 spermatogenic failure 68 skos:closeMatch DOID:0070567 spermatogenic failure 68 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619805 LEXMATCH +MONDO:0030721 spermatogenic failure 68 skos:closeMatch DOID:0070567 spermatogenic failure 68 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619805 LEXMATCH +MONDO:0030732 spermatogenic failure 69 skos:closeMatch DOID:0070568 spermatogenic failure 69 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619826 LEXMATCH +MONDO:0030732 spermatogenic failure 69 skos:closeMatch DOID:0070568 spermatogenic failure 69 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619826 LEXMATCH +MONDO:0030732 spermatogenic failure 69 skos:closeMatch DOID:0070568 spermatogenic failure 69 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619826 LEXMATCH +MONDO:0030732 spermatogenic failure 69 skos:closeMatch DOID:0070568 spermatogenic failure 69 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619826 LEXMATCH +MONDO:0030732 spermatogenic failure 69 skos:closeMatch DOID:0070568 spermatogenic failure 69 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619826 LEXMATCH +MONDO:0030733 spermatogenic failure 70 skos:closeMatch DOID:0070569 spermatogenic failure 70 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619828 LEXMATCH +MONDO:0030733 spermatogenic failure 70 skos:closeMatch DOID:0070569 spermatogenic failure 70 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619828 LEXMATCH +MONDO:0030733 spermatogenic failure 70 skos:closeMatch DOID:0070569 spermatogenic failure 70 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619828 LEXMATCH +MONDO:0030733 spermatogenic failure 70 skos:closeMatch DOID:0070569 spermatogenic failure 70 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619828 LEXMATCH +MONDO:0030733 spermatogenic failure 70 skos:closeMatch DOID:0070569 spermatogenic failure 70 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619828 LEXMATCH +MONDO:0030787 spermatogenic failure 71 skos:closeMatch DOID:0070570 spermatogenic failure 71 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619831 LEXMATCH +MONDO:0030787 spermatogenic failure 71 skos:closeMatch DOID:0070570 spermatogenic failure 71 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619831 LEXMATCH +MONDO:0030787 spermatogenic failure 71 skos:closeMatch DOID:0070570 spermatogenic failure 71 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619831 LEXMATCH +MONDO:0030787 spermatogenic failure 71 skos:closeMatch DOID:0070570 spermatogenic failure 71 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619831 LEXMATCH +MONDO:0030787 spermatogenic failure 71 skos:closeMatch DOID:0070570 spermatogenic failure 71 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619831 LEXMATCH +MONDO:0030809 spermatogenic failure 72 skos:closeMatch DOID:0070571 spermatogenic failure 72 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619867 LEXMATCH +MONDO:0030809 spermatogenic failure 72 skos:closeMatch DOID:0070571 spermatogenic failure 72 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619867 LEXMATCH +MONDO:0030809 spermatogenic failure 72 skos:closeMatch DOID:0070571 spermatogenic failure 72 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619867 LEXMATCH +MONDO:0030809 spermatogenic failure 72 skos:closeMatch DOID:0070571 spermatogenic failure 72 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619867 LEXMATCH +MONDO:0030809 spermatogenic failure 72 skos:closeMatch DOID:0070571 spermatogenic failure 72 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619867 LEXMATCH +MONDO:0030818 spermatogenic failure 73 skos:closeMatch DOID:0070572 spermatogenic failure 73 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619878 LEXMATCH +MONDO:0030818 spermatogenic failure 73 skos:closeMatch DOID:0070572 spermatogenic failure 73 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619878 LEXMATCH +MONDO:0030818 spermatogenic failure 73 skos:closeMatch DOID:0070572 spermatogenic failure 73 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619878 LEXMATCH +MONDO:0030818 spermatogenic failure 73 skos:closeMatch DOID:0070572 spermatogenic failure 73 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619878 LEXMATCH +MONDO:0030818 spermatogenic failure 73 skos:closeMatch DOID:0070572 spermatogenic failure 73 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619878 LEXMATCH +MONDO:0030972 spermatogenic failure 74 skos:closeMatch DOID:0070573 spermatogenic failure 74 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619937 LEXMATCH +MONDO:0030972 spermatogenic failure 74 skos:closeMatch DOID:0070573 spermatogenic failure 74 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619937 LEXMATCH +MONDO:0030972 spermatogenic failure 74 skos:closeMatch DOID:0070573 spermatogenic failure 74 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619937 LEXMATCH +MONDO:0030972 spermatogenic failure 74 skos:closeMatch DOID:0070573 spermatogenic failure 74 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619937 LEXMATCH +MONDO:0030972 spermatogenic failure 74 skos:closeMatch DOID:0070573 spermatogenic failure 74 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619937 LEXMATCH +MONDO:0030984 spermatogenic failure 75 skos:closeMatch DOID:0070574 spermatogenic failure 75 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619949 LEXMATCH +MONDO:0030984 spermatogenic failure 75 skos:closeMatch DOID:0070574 spermatogenic failure 75 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619949 LEXMATCH +MONDO:0030984 spermatogenic failure 75 skos:closeMatch DOID:0070574 spermatogenic failure 75 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619949 LEXMATCH +MONDO:0030984 spermatogenic failure 75 skos:closeMatch DOID:0070574 spermatogenic failure 75 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619949 LEXMATCH +MONDO:0030984 spermatogenic failure 75 skos:closeMatch DOID:0070574 spermatogenic failure 75 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619949 LEXMATCH +MONDO:0031077 spermatogenic failure 76 skos:closeMatch DOID:0070575 spermatogenic failure 76 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620084 LEXMATCH +MONDO:0031077 spermatogenic failure 76 skos:closeMatch DOID:0070575 spermatogenic failure 76 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620084 LEXMATCH +MONDO:0031077 spermatogenic failure 76 skos:closeMatch DOID:0070575 spermatogenic failure 76 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620084 LEXMATCH +MONDO:0031077 spermatogenic failure 76 skos:closeMatch DOID:0070575 spermatogenic failure 76 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620084 LEXMATCH +MONDO:0031077 spermatogenic failure 76 skos:closeMatch DOID:0070575 spermatogenic failure 76 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620084 LEXMATCH +MONDO:0031083 spermatogenic failure 77 skos:closeMatch DOID:0070576 spermatogenic failure 77 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620103 LEXMATCH +MONDO:0031083 spermatogenic failure 77 skos:closeMatch DOID:0070576 spermatogenic failure 77 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620103 LEXMATCH +MONDO:0031083 spermatogenic failure 77 skos:closeMatch DOID:0070576 spermatogenic failure 77 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620103 LEXMATCH +MONDO:0031083 spermatogenic failure 77 skos:closeMatch DOID:0070576 spermatogenic failure 77 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620103 LEXMATCH +MONDO:0031083 spermatogenic failure 77 skos:closeMatch DOID:0070576 spermatogenic failure 77 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620103 LEXMATCH +MONDO:0800029 interstitial lung disease 2 skos:closeMatch DOID:0050156 idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:8609 LEXMATCH +MONDO:0800029 interstitial lung disease 2 skos:closeMatch DOID:0050156 idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icd10cm:j84.112 LEXMATCH +MONDO:0800029 interstitial lung disease 2 skos:closeMatch DOID:0050156 idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054990 LEXMATCH +MONDO:0800029 interstitial lung disease 2 skos:closeMatch DOID:0050156 idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref icd10cm:j84.112 LEXMATCH +MONDO:0800029 interstitial lung disease 2 skos:closeMatch DOID:0050156 idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:d054990 LEXMATCH MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 skos:closeMatch DOID:14671 multiple intestinal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243150 LEXMATCH MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 skos:closeMatch DOID:14671 multiple intestinal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:243150 LEXMATCH MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 skos:closeMatch DOID:14671 multiple intestinal atresia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:243150 LEXMATCH MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 skos:closeMatch DOID:14671 multiple intestinal atresia semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:243150 LEXMATCH MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 skos:closeMatch DOID:14671 multiple intestinal atresia semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:243150 LEXMATCH -MONDO:0859328 hypomagnesemia 7, renal, with or without dilated cardiomyopathy skos:closeMatch DOID:0060972 renal hypomagnesemia 7, with or without dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620152 LEXMATCH -MONDO:0859328 hypomagnesemia 7, renal, with or without dilated cardiomyopathy skos:closeMatch DOID:0060972 renal hypomagnesemia 7, with or without dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620152 LEXMATCH -MONDO:0859328 hypomagnesemia 7, renal, with or without dilated cardiomyopathy skos:closeMatch DOID:0060972 renal hypomagnesemia 7, with or without dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620152 LEXMATCH -MONDO:0859328 hypomagnesemia 7, renal, with or without dilated cardiomyopathy skos:closeMatch DOID:0060972 renal hypomagnesemia 7, with or without dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620152 LEXMATCH -MONDO:0859328 hypomagnesemia 7, renal, with or without dilated cardiomyopathy skos:closeMatch DOID:0060972 renal hypomagnesemia 7, with or without dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620152 LEXMATCH -MONDO:0859329 mosaic variegated aneuploidy syndrome 4 skos:closeMatch DOID:0060981 mosaic variegated aneuploidy syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620153 LEXMATCH -MONDO:0859329 mosaic variegated aneuploidy syndrome 4 skos:closeMatch DOID:0060981 mosaic variegated aneuploidy syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620153 LEXMATCH -MONDO:0859329 mosaic variegated aneuploidy syndrome 4 skos:closeMatch DOID:0060981 mosaic variegated aneuploidy syndrome 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620153 LEXMATCH -MONDO:0859329 mosaic variegated aneuploidy syndrome 4 skos:closeMatch DOID:0060981 mosaic variegated aneuploidy syndrome 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620153 LEXMATCH -MONDO:0859329 mosaic variegated aneuploidy syndrome 4 skos:closeMatch DOID:0060981 mosaic variegated aneuploidy syndrome 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620153 LEXMATCH -MONDO:0859346 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition skos:closeMatch DOID:0060982 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620189 LEXMATCH -MONDO:0859346 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition skos:closeMatch DOID:0060982 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620189 LEXMATCH -MONDO:0859346 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition skos:closeMatch DOID:0060982 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620189 LEXMATCH -MONDO:0859346 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition skos:closeMatch DOID:0060982 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620189 LEXMATCH -MONDO:0859346 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition skos:closeMatch DOID:0060982 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620189 LEXMATCH -MONDO:0957303 palmoplantar keratoderma, epidermolytic, 2 skos:closeMatch DOID:0070551 epidermolytic palmoplantar keratoderma 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620411 LEXMATCH -MONDO:0957303 palmoplantar keratoderma, epidermolytic, 2 skos:closeMatch DOID:0070551 epidermolytic palmoplantar keratoderma 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620411 LEXMATCH -MONDO:0957303 palmoplantar keratoderma, epidermolytic, 2 skos:closeMatch DOID:0070551 epidermolytic palmoplantar keratoderma 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620411 LEXMATCH -MONDO:0957303 palmoplantar keratoderma, epidermolytic, 2 skos:closeMatch DOID:0070551 epidermolytic palmoplantar keratoderma 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620411 LEXMATCH -MONDO:0957303 palmoplantar keratoderma, epidermolytic, 2 skos:closeMatch DOID:0070551 epidermolytic palmoplantar keratoderma 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620411 LEXMATCH +MONDO:0859338 spermatogenic failure 78 skos:closeMatch DOID:0070577 spermatogenic failure 78 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620170 LEXMATCH +MONDO:0859338 spermatogenic failure 78 skos:closeMatch DOID:0070577 spermatogenic failure 78 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620170 LEXMATCH +MONDO:0859338 spermatogenic failure 78 skos:closeMatch DOID:0070577 spermatogenic failure 78 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620170 LEXMATCH +MONDO:0859338 spermatogenic failure 78 skos:closeMatch DOID:0070577 spermatogenic failure 78 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620170 LEXMATCH +MONDO:0859338 spermatogenic failure 78 skos:closeMatch DOID:0070577 spermatogenic failure 78 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620170 LEXMATCH +MONDO:0859352 spermatogenic failure 79 skos:closeMatch DOID:0070578 spermatogenic failure 79 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620196 LEXMATCH +MONDO:0859352 spermatogenic failure 79 skos:closeMatch DOID:0070578 spermatogenic failure 79 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620196 LEXMATCH +MONDO:0859352 spermatogenic failure 79 skos:closeMatch DOID:0070578 spermatogenic failure 79 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620196 LEXMATCH +MONDO:0859352 spermatogenic failure 79 skos:closeMatch DOID:0070578 spermatogenic failure 79 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620196 LEXMATCH +MONDO:0859352 spermatogenic failure 79 skos:closeMatch DOID:0070578 spermatogenic failure 79 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620196 LEXMATCH +MONDO:0859364 spermatogenic failure 80 skos:closeMatch DOID:0070579 spermatogenic failure 80 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620222 LEXMATCH +MONDO:0859364 spermatogenic failure 80 skos:closeMatch DOID:0070579 spermatogenic failure 80 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620222 LEXMATCH +MONDO:0859364 spermatogenic failure 80 skos:closeMatch DOID:0070579 spermatogenic failure 80 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620222 LEXMATCH +MONDO:0859364 spermatogenic failure 80 skos:closeMatch DOID:0070579 spermatogenic failure 80 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620222 LEXMATCH +MONDO:0859364 spermatogenic failure 80 skos:closeMatch DOID:0070579 spermatogenic failure 80 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620222 LEXMATCH +MONDO:0859477 spermatogenic failure, X-linked, 5 skos:closeMatch DOID:0070596 X-linked spermatogenic failure 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301099 LEXMATCH +MONDO:0859477 spermatogenic failure, X-linked, 5 skos:closeMatch DOID:0070596 X-linked spermatogenic failure 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:301099 LEXMATCH +MONDO:0859477 spermatogenic failure, X-linked, 5 skos:closeMatch DOID:0070596 X-linked spermatogenic failure 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301099 LEXMATCH +MONDO:0859477 spermatogenic failure, X-linked, 5 skos:closeMatch DOID:0070596 X-linked spermatogenic failure 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:301099 LEXMATCH +MONDO:0859477 spermatogenic failure, X-linked, 5 skos:closeMatch DOID:0070596 X-linked spermatogenic failure 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:301099 LEXMATCH +MONDO:0859478 spermatogenic failure, X-linked, 6 skos:closeMatch DOID:0070597 X-linked spermatogenic failure 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301101 LEXMATCH +MONDO:0859478 spermatogenic failure, X-linked, 6 skos:closeMatch DOID:0070597 X-linked spermatogenic failure 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:301101 LEXMATCH +MONDO:0859478 spermatogenic failure, X-linked, 6 skos:closeMatch DOID:0070597 X-linked spermatogenic failure 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301101 LEXMATCH +MONDO:0859478 spermatogenic failure, X-linked, 6 skos:closeMatch DOID:0070597 X-linked spermatogenic failure 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:301101 LEXMATCH +MONDO:0859478 spermatogenic failure, X-linked, 6 skos:closeMatch DOID:0070597 X-linked spermatogenic failure 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:301101 LEXMATCH +MONDO:0859522 spermatogenic failure 81 skos:closeMatch DOID:0070580 spermatogenic failure 81 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620277 LEXMATCH +MONDO:0859522 spermatogenic failure 81 skos:closeMatch DOID:0070580 spermatogenic failure 81 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620277 LEXMATCH +MONDO:0859522 spermatogenic failure 81 skos:closeMatch DOID:0070580 spermatogenic failure 81 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620277 LEXMATCH +MONDO:0859522 spermatogenic failure 81 skos:closeMatch DOID:0070580 spermatogenic failure 81 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620277 LEXMATCH +MONDO:0859522 spermatogenic failure 81 skos:closeMatch DOID:0070580 spermatogenic failure 81 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620277 LEXMATCH +MONDO:0957202 spermatogenic failure, X-linked, 7 skos:closeMatch DOID:0070598 X-linked spermatogenic failure 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301106 LEXMATCH +MONDO:0957202 spermatogenic failure, X-linked, 7 skos:closeMatch DOID:0070598 X-linked spermatogenic failure 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:301106 LEXMATCH +MONDO:0957202 spermatogenic failure, X-linked, 7 skos:closeMatch DOID:0070598 X-linked spermatogenic failure 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301106 LEXMATCH +MONDO:0957202 spermatogenic failure, X-linked, 7 skos:closeMatch DOID:0070598 X-linked spermatogenic failure 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:301106 LEXMATCH +MONDO:0957202 spermatogenic failure, X-linked, 7 skos:closeMatch DOID:0070598 X-linked spermatogenic failure 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:301106 LEXMATCH +MONDO:0957249 spermatogenic failure 82 skos:closeMatch DOID:0070581 spermatogenic failure 82 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620353 LEXMATCH +MONDO:0957249 spermatogenic failure 82 skos:closeMatch DOID:0070581 spermatogenic failure 82 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620353 LEXMATCH +MONDO:0957249 spermatogenic failure 82 skos:closeMatch DOID:0070581 spermatogenic failure 82 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620353 LEXMATCH +MONDO:0957249 spermatogenic failure 82 skos:closeMatch DOID:0070581 spermatogenic failure 82 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620353 LEXMATCH +MONDO:0957249 spermatogenic failure 82 skos:closeMatch DOID:0070581 spermatogenic failure 82 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620353 LEXMATCH +MONDO:0957250 spermatogenic failure 83 skos:closeMatch DOID:0070582 spermatogenic failure 83 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620354 LEXMATCH +MONDO:0957250 spermatogenic failure 83 skos:closeMatch DOID:0070582 spermatogenic failure 83 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620354 LEXMATCH +MONDO:0957250 spermatogenic failure 83 skos:closeMatch DOID:0070582 spermatogenic failure 83 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620354 LEXMATCH +MONDO:0957250 spermatogenic failure 83 skos:closeMatch DOID:0070582 spermatogenic failure 83 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620354 LEXMATCH +MONDO:0957250 spermatogenic failure 83 skos:closeMatch DOID:0070582 spermatogenic failure 83 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620354 LEXMATCH +MONDO:0957301 spermatogenic failure 84 skos:closeMatch DOID:0070583 spermatogenic failure 84 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620409 LEXMATCH +MONDO:0957301 spermatogenic failure 84 skos:closeMatch DOID:0070583 spermatogenic failure 84 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620409 LEXMATCH +MONDO:0957301 spermatogenic failure 84 skos:closeMatch DOID:0070583 spermatogenic failure 84 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620409 LEXMATCH +MONDO:0957301 spermatogenic failure 84 skos:closeMatch DOID:0070583 spermatogenic failure 84 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620409 LEXMATCH +MONDO:0957301 spermatogenic failure 84 skos:closeMatch DOID:0070583 spermatogenic failure 84 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620409 LEXMATCH MONDO:0957421 borna virus encephalitis skos:closeMatch DOID:5154 borna disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001890 LEXMATCH MONDO:0957421 borna virus encephalitis skos:closeMatch DOID:5154 borna disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch mesh:d001890 LEXMATCH MONDO:0957421 borna virus encephalitis skos:closeMatch DOID:5154 borna disease semapv:LexicalMatching oaklib 0.5 skos:relatedMatch oio:hasDbXref mesh:d001890 LEXMATCH MONDO:0957421 borna virus encephalitis skos:closeMatch DOID:5154 borna disease semapv:LexicalMatching oaklib 0.5 skos:relatedMatch skos:exactMatch mesh:d001890 LEXMATCH +MONDO:0957584 spermatogenic failure 85 skos:closeMatch DOID:0070584 spermatogenic failure 85 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620490 LEXMATCH +MONDO:0957584 spermatogenic failure 85 skos:closeMatch DOID:0070584 spermatogenic failure 85 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620490 LEXMATCH +MONDO:0957584 spermatogenic failure 85 skos:closeMatch DOID:0070584 spermatogenic failure 85 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620490 LEXMATCH +MONDO:0957584 spermatogenic failure 85 skos:closeMatch DOID:0070584 spermatogenic failure 85 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620490 LEXMATCH +MONDO:0957584 spermatogenic failure 85 skos:closeMatch DOID:0070584 spermatogenic failure 85 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620490 LEXMATCH +MONDO:0957593 spermatogenic failure 86 skos:closeMatch DOID:0070585 spermatogenic failure 86 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620499 LEXMATCH +MONDO:0957593 spermatogenic failure 86 skos:closeMatch DOID:0070585 spermatogenic failure 86 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620499 LEXMATCH +MONDO:0957593 spermatogenic failure 86 skos:closeMatch DOID:0070585 spermatogenic failure 86 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620499 LEXMATCH +MONDO:0957593 spermatogenic failure 86 skos:closeMatch DOID:0070585 spermatogenic failure 86 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620499 LEXMATCH +MONDO:0957593 spermatogenic failure 86 skos:closeMatch DOID:0070585 spermatogenic failure 86 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620499 LEXMATCH +MONDO:0957594 spermatogenic failure 87 skos:closeMatch DOID:0070586 spermatogenic failure 87 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620500 LEXMATCH +MONDO:0957594 spermatogenic failure 87 skos:closeMatch DOID:0070586 spermatogenic failure 87 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620500 LEXMATCH +MONDO:0957594 spermatogenic failure 87 skos:closeMatch DOID:0070586 spermatogenic failure 87 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620500 LEXMATCH +MONDO:0957594 spermatogenic failure 87 skos:closeMatch DOID:0070586 spermatogenic failure 87 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620500 LEXMATCH +MONDO:0957594 spermatogenic failure 87 skos:closeMatch DOID:0070586 spermatogenic failure 87 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620500 LEXMATCH +MONDO:0957821 spermatogenic failure 88 skos:closeMatch DOID:0070587 spermatogenic failure 88 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620547 LEXMATCH +MONDO:0957821 spermatogenic failure 88 skos:closeMatch DOID:0070587 spermatogenic failure 88 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620547 LEXMATCH +MONDO:0957821 spermatogenic failure 88 skos:closeMatch DOID:0070587 spermatogenic failure 88 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620547 LEXMATCH +MONDO:0957821 spermatogenic failure 88 skos:closeMatch DOID:0070587 spermatogenic failure 88 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620547 LEXMATCH +MONDO:0957821 spermatogenic failure 88 skos:closeMatch DOID:0070587 spermatogenic failure 88 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620547 LEXMATCH +MONDO:0958206 spermatogenic failure 89 skos:closeMatch DOID:0070588 spermatogenic failure 89 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620705 LEXMATCH +MONDO:0958206 spermatogenic failure 89 skos:closeMatch DOID:0070588 spermatogenic failure 89 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620705 LEXMATCH +MONDO:0958206 spermatogenic failure 89 skos:closeMatch DOID:0070588 spermatogenic failure 89 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620705 LEXMATCH +MONDO:0958206 spermatogenic failure 89 skos:closeMatch DOID:0070588 spermatogenic failure 89 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620705 LEXMATCH +MONDO:0958206 spermatogenic failure 89 skos:closeMatch DOID:0070588 spermatogenic failure 89 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620705 LEXMATCH +MONDO:0958242 spermatogenic failure 90 skos:closeMatch DOID:0070589 spermatogenic failure 90 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620744 LEXMATCH +MONDO:0958242 spermatogenic failure 90 skos:closeMatch DOID:0070589 spermatogenic failure 90 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620744 LEXMATCH +MONDO:0958242 spermatogenic failure 90 skos:closeMatch DOID:0070589 spermatogenic failure 90 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620744 LEXMATCH +MONDO:0958242 spermatogenic failure 90 skos:closeMatch DOID:0070589 spermatogenic failure 90 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620744 LEXMATCH +MONDO:0958242 spermatogenic failure 90 skos:closeMatch DOID:0070589 spermatogenic failure 90 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620744 LEXMATCH +MONDO:0970943 spermatogenic failure, x-linked, 8 skos:closeMatch DOID:0070599 X-linked spermatogenic failure 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301119 LEXMATCH +MONDO:0970943 spermatogenic failure, x-linked, 8 skos:closeMatch DOID:0070599 X-linked spermatogenic failure 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:301119 LEXMATCH +MONDO:0970943 spermatogenic failure, x-linked, 8 skos:closeMatch DOID:0070599 X-linked spermatogenic failure 8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301119 LEXMATCH +MONDO:0970943 spermatogenic failure, x-linked, 8 skos:closeMatch DOID:0070599 X-linked spermatogenic failure 8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:301119 LEXMATCH +MONDO:0970943 spermatogenic failure, x-linked, 8 skos:closeMatch DOID:0070599 X-linked spermatogenic failure 8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:301119 LEXMATCH +MONDO:0970952 spermatogenic failure 91 skos:closeMatch DOID:0070590 spermatogenic failure 91 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620838 LEXMATCH +MONDO:0970952 spermatogenic failure 91 skos:closeMatch DOID:0070590 spermatogenic failure 91 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620838 LEXMATCH +MONDO:0970952 spermatogenic failure 91 skos:closeMatch DOID:0070590 spermatogenic failure 91 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620838 LEXMATCH +MONDO:0970952 spermatogenic failure 91 skos:closeMatch DOID:0070590 spermatogenic failure 91 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620838 LEXMATCH +MONDO:0970952 spermatogenic failure 91 skos:closeMatch DOID:0070590 spermatogenic failure 91 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620838 LEXMATCH +MONDO:0970999 spermatogenic failure 92 skos:closeMatch DOID:0070591 spermatogenic failure 92 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620848 LEXMATCH +MONDO:0970999 spermatogenic failure 92 skos:closeMatch DOID:0070591 spermatogenic failure 92 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620848 LEXMATCH +MONDO:0970999 spermatogenic failure 92 skos:closeMatch DOID:0070591 spermatogenic failure 92 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620848 LEXMATCH +MONDO:0970999 spermatogenic failure 92 skos:closeMatch DOID:0070591 spermatogenic failure 92 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620848 LEXMATCH +MONDO:0970999 spermatogenic failure 92 skos:closeMatch DOID:0070591 spermatogenic failure 92 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620848 LEXMATCH +MONDO:0971000 spermatogenic failure 93 skos:closeMatch DOID:0070592 spermatogenic failure 93 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620849 LEXMATCH +MONDO:0971000 spermatogenic failure 93 skos:closeMatch DOID:0070592 spermatogenic failure 93 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620849 LEXMATCH +MONDO:0971000 spermatogenic failure 93 skos:closeMatch DOID:0070592 spermatogenic failure 93 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620849 LEXMATCH +MONDO:0971000 spermatogenic failure 93 skos:closeMatch DOID:0070592 spermatogenic failure 93 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620849 LEXMATCH +MONDO:0971000 spermatogenic failure 93 skos:closeMatch DOID:0070592 spermatogenic failure 93 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620849 LEXMATCH +MONDO:0971002 spermatogenic failure 94 skos:closeMatch DOID:0070593 spermatogenic failure 94 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620850 LEXMATCH +MONDO:0971002 spermatogenic failure 94 skos:closeMatch DOID:0070593 spermatogenic failure 94 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620850 LEXMATCH +MONDO:0971002 spermatogenic failure 94 skos:closeMatch DOID:0070593 spermatogenic failure 94 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620850 LEXMATCH +MONDO:0971002 spermatogenic failure 94 skos:closeMatch DOID:0070593 spermatogenic failure 94 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620850 LEXMATCH +MONDO:0971002 spermatogenic failure 94 skos:closeMatch DOID:0070593 spermatogenic failure 94 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620850 LEXMATCH MONDO:1010029 aleutian mink disease, human skos:closeMatch DOID:2934 aleutian mink disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000453 LEXMATCH MONDO:1010029 aleutian mink disease, human skos:closeMatch DOID:2934 aleutian mink disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch mesh:d000453 LEXMATCH MONDO:1010029 aleutian mink disease, human skos:closeMatch DOID:2934 aleutian mink disease semapv:LexicalMatching oaklib 0.5 skos:relatedMatch oio:hasDbXref mesh:d000453 LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd10cm.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd10cm.tsv index 745f2af15..bd46957ea 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd10cm.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd10cm.tsv @@ -667,7 +667,6 @@ MONDO:0001722 central pterygium skos:closeMatch ICD10CM:H11.02 Central pterygium MONDO:0001730 urethral syndrome skos:closeMatch ICD10CM:N34.3 Urethral syndrome, unspecified semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:13498 LEXMATCH MONDO:0001730 urethral syndrome skos:closeMatch ICD10CM:N34.3 Urethral syndrome, unspecified semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:13498 LEXMATCH MONDO:0001734 tuberous sclerosis skos:closeMatch ICD10CM:Q85.1 Tuberous sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:13515 LEXMATCH -MONDO:0001734 tuberous sclerosis skos:closeMatch ICD10CM:Q85.1 Tuberous sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bournevilles disorder LEXMATCH MONDO:0001734 tuberous sclerosis skos:closeMatch ICD10CM:Q85.1 Tuberous sclerosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:13515 LEXMATCH MONDO:0001741 hyperparathyroidism skos:closeMatch ICD10CM:E21.3 Hyperparathyroidism, unspecified semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:13543 LEXMATCH MONDO:0001741 hyperparathyroidism skos:closeMatch ICD10CM:E21.3 Hyperparathyroidism, unspecified semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:13543 LEXMATCH @@ -1361,8 +1360,6 @@ MONDO:0004584 maple bark strippers' lung skos:closeMatch ICD10CM:J67.6 Maple-bar MONDO:0004584 maple bark strippers' lung skos:closeMatch ICD10CM:J67.6 Maple-bark-stripper's lung semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:8484 LEXMATCH MONDO:0004585 polyhydramnios skos:closeMatch ICD10CM:O40 Polyhydramnios semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:8488 LEXMATCH MONDO:0004585 polyhydramnios skos:closeMatch ICD10CM:O40 Polyhydramnios semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:8488 LEXMATCH -MONDO:0004587 hereditary night blindness skos:closeMatch ICD10CM:H53.63 Congenital night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:8498 LEXMATCH -MONDO:0004587 hereditary night blindness skos:closeMatch ICD10CM:H53.63 Congenital night blindness semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:8498 LEXMATCH MONDO:0004592 impetigo skos:closeMatch ICD10CM:L01.0 Impetigo semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:8504 LEXMATCH MONDO:0004592 impetigo skos:closeMatch ICD10CM:L01.0 Impetigo semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:8504 LEXMATCH MONDO:0004596 cor pulmonale skos:closeMatch ICD10CM:I27 Other pulmonary heart diseases semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary heart disorders LEXMATCH @@ -2691,9 +2688,7 @@ MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch ICD10C MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch ICD10CM:G24.1 Genetic torsion dystonia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0060730 LEXMATCH MONDO:0007493 torsion dystonia 4 skos:closeMatch ICD10CM:G24.1 Genetic torsion dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0090041 LEXMATCH MONDO:0007493 torsion dystonia 4 skos:closeMatch ICD10CM:G24.1 Genetic torsion dystonia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0090041 LEXMATCH -MONDO:0007495 dystonia 5 skos:closeMatch ICD10CM:G24.1 Genetic torsion dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0060963 LEXMATCH MONDO:0007495 dystonia 5 skos:closeMatch ICD10CM:G24.1 Genetic torsion dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0090043 LEXMATCH -MONDO:0007495 dystonia 5 skos:closeMatch ICD10CM:G24.1 Genetic torsion dystonia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0060963 LEXMATCH MONDO:0007495 dystonia 5 skos:closeMatch ICD10CM:G24.1 Genetic torsion dystonia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0090043 LEXMATCH MONDO:0007496 dystonia 12 skos:closeMatch ICD10CM:G24.1 Genetic torsion dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0090056 LEXMATCH MONDO:0007496 dystonia 12 skos:closeMatch ICD10CM:G24.1 Genetic torsion dystonia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0090056 LEXMATCH @@ -4088,8 +4083,6 @@ MONDO:0011889 Charcot-Marie-Tooth disease type 2I skos:closeMatch ICD10CM:G60.0 MONDO:0011889 Charcot-Marie-Tooth disease type 2I skos:closeMatch ICD10CM:G60.0 Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0110158 LEXMATCH MONDO:0011890 Charcot-Marie-Tooth disease type 1D skos:closeMatch ICD10CM:G60.0 Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0110150 LEXMATCH MONDO:0011890 Charcot-Marie-Tooth disease type 1D skos:closeMatch ICD10CM:G60.0 Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0110150 LEXMATCH -MONDO:0011893 autosomal dominant nonsyndromic hearing loss 52 skos:closeMatch ICD10CM:H90.3 Sensorineural hearing loss, bilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0110578 LEXMATCH -MONDO:0011893 autosomal dominant nonsyndromic hearing loss 52 skos:closeMatch ICD10CM:H90.3 Sensorineural hearing loss, bilateral semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0110578 LEXMATCH MONDO:0011894 Charcot-Marie-Tooth disease type 2E skos:closeMatch ICD10CM:G60.0 Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0110165 LEXMATCH MONDO:0011894 Charcot-Marie-Tooth disease type 2E skos:closeMatch ICD10CM:G60.0 Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0110165 LEXMATCH MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch ICD10CM:G11.1 Early-onset cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0060794 LEXMATCH @@ -5342,7 +5335,9 @@ MONDO:0016284 primitive neuroectodermal tumor of the cervix uteri skos:closeMatc MONDO:0016285 papillary carcinoma of the cervix uteri skos:closeMatch ICD10CM:C53.0 Malignant neoplasm of endocervix semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016285 LEXMATCH MONDO:0016289 malignant germ cell tumor of cervix uteri skos:closeMatch ICD10CM:C53.0 Malignant neoplasm of endocervix semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016289 LEXMATCH MONDO:0016293 congenital stationary night blindness skos:closeMatch ICD10CM:H53.63 Congenital night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0050534 LEXMATCH +MONDO:0016293 congenital stationary night blindness skos:closeMatch ICD10CM:H53.63 Congenital night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:8498 LEXMATCH MONDO:0016293 congenital stationary night blindness skos:closeMatch ICD10CM:H53.63 Congenital night blindness semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0050534 LEXMATCH +MONDO:0016293 congenital stationary night blindness skos:closeMatch ICD10CM:H53.63 Congenital night blindness semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:8498 LEXMATCH MONDO:0016299 holoprosencephaly-caudal dysgenesis syndrome skos:closeMatch ICD10CM:Q04.2 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016299 LEXMATCH MONDO:0016344 hydranencephaly skos:closeMatch ICD10CM:Q04.3 Other reduction deformities of brain semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:4626 LEXMATCH MONDO:0016344 hydranencephaly skos:closeMatch ICD10CM:Q04.3 Other reduction deformities of brain semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:4626 LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd11.foundation.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd11.foundation.tsv index 683c6c824..d9480a3e5 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd11.foundation.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd11.foundation.tsv @@ -155,11 +155,12 @@ MONDO:0003189 middle ear adenocarcinoma skos:closeMatch icd11.foundation:4403761 MONDO:0003308 pleural mesothelioma skos:closeMatch icd11.foundation:291292488 Benign neoplasm of mesothelial tissue of pleura semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym benign pleural mesothelioma LEXMATCH MONDO:0003319 scrotum neoplasm skos:closeMatch icd11.foundation:5747278 Malignant neoplasms of scrotum semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym malignant tumour of scrotum LEXMATCH MONDO:0003406 sleep-wake disorder skos:closeMatch icd11.foundation:1359329403 Circadian rhythm sleep-wake disorders semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disorders of the sleep-wake schedule LEXMATCH -MONDO:0003406 sleep-wake disorder skos:closeMatch icd11.foundation:1359329403 Circadian rhythm sleep-wake disorders semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disturbed nyctohemeral rhythm LEXMATCH MONDO:0003406 sleep-wake disorder skos:closeMatch icd11.foundation:274880002 Sleep-wake disorders semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sleep disorders LEXMATCH MONDO:0003441 dystonic disorder skos:closeMatch icd11.foundation:1257505996 Dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia disorder LEXMATCH MONDO:0003444 intrahepatic bile duct adenoma skos:closeMatch icd11.foundation:1405884091 Intrahepatic bile duct adenoma of liver semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adenoma of intrahepatic bile duct LEXMATCH MONDO:0003504 anal canal neuroendocrine neoplasm skos:closeMatch icd11.foundation:1961674648 Anal endocrine tumour semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anal neuroendocrine tumour LEXMATCH +MONDO:0003646 rectum neuroendocrine neoplasm skos:closeMatch icd11.foundation:1609550585 Neuroendocrine tumour of rectum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuroendocrine tumour of rectum LEXMATCH +MONDO:0003646 rectum neuroendocrine neoplasm skos:closeMatch icd11.foundation:1609550585 Neuroendocrine tumour of rectum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuroendocrine tumour of rectum LEXMATCH MONDO:0003725 breast adenosis skos:closeMatch icd11.foundation:2137984191 Microglandular adenosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microglandular adenosis LEXMATCH MONDO:0003725 breast adenosis skos:closeMatch icd11.foundation:2137984191 Microglandular adenosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microglandular adenosis LEXMATCH MONDO:0003767 mitral valve disorder skos:closeMatch icd11.foundation:1659232486 Mitral valve disease, unspecified semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym rheumatic disorder of mitral valve LEXMATCH @@ -396,8 +397,6 @@ MONDO:0007485 dyskeratosis congenita, autosomal dominant 1 skos:closeMatch icd11 MONDO:0007488 Lewy body dementia skos:closeMatch icd11.foundation:2091156678 Lewy body disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diffuse lewy body disorder LEXMATCH MONDO:0007493 torsion dystonia 4 skos:closeMatch icd11.foundation:1494639843 Primary dystonia, DYT4 type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primary dystonia, dyt4 type LEXMATCH MONDO:0007493 torsion dystonia 4 skos:closeMatch icd11.foundation:1494639843 Primary dystonia, DYT4 type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary dystonia, dyt4 type LEXMATCH -MONDO:0007495 dystonia 5 skos:closeMatch icd11.foundation:1143673207 Autosomal dominant dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal dominant dopa-responsive dystonia LEXMATCH -MONDO:0007495 dystonia 5 skos:closeMatch icd11.foundation:1143673207 Autosomal dominant dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant dopa-responsive dystonia LEXMATCH MONDO:0007496 dystonia 12 skos:closeMatch icd11.foundation:878904788 Rapid-onset dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rapid-onset dystonia-parkinsonism LEXMATCH MONDO:0007496 dystonia 12 skos:closeMatch icd11.foundation:878904788 Rapid-onset dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rapid-onset dystonia-parkinsonism LEXMATCH MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch icd11.foundation:1973837258 Ehlers-Danlos syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome type 2 LEXMATCH @@ -932,7 +931,8 @@ MONDO:0011595 nonsyndromic congenital nail disorder 7 skos:closeMatch icd11.foun MONDO:0011628 propionic acidemia skos:closeMatch icd11.foundation:1618541953 Propionic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym propionyl-coa carboxylase deficiency LEXMATCH MONDO:0011633 Charcot-Marie-Tooth disease axonal type 2C skos:closeMatch icd11.foundation:2074400987 Charcot-Marie-Tooth disease type 2C semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder type 2c LEXMATCH MONDO:0011633 Charcot-Marie-Tooth disease axonal type 2C skos:closeMatch icd11.foundation:2074400987 Charcot-Marie-Tooth disease type 2C semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label charcot-marie-tooth disorder type 2c LEXMATCH -MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch icd11.foundation:1667492731 22q13 deletion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phelan-mcdermid syndrome LEXMATCH +MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch icd11.foundation:1667492731 22q13 deletion semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym 22q13 deletion LEXMATCH +MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch icd11.foundation:1667492731 22q13 deletion semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label 22q13 deletion LEXMATCH MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch icd11.foundation:1750464584 Dominant intermediate Charcot-Marie-Tooth disease type B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal dominant intermediate charcot-marie-tooth disorder type b LEXMATCH MONDO:0011687 Charcot-Marie-Tooth disease axonal type 2F skos:closeMatch icd11.foundation:1970894933 Charcot-Marie-Tooth disease type 2F semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder type 2f LEXMATCH MONDO:0011687 Charcot-Marie-Tooth disease axonal type 2F skos:closeMatch icd11.foundation:1970894933 Charcot-Marie-Tooth disease type 2F semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label charcot-marie-tooth disorder type 2f LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_orphanet.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_orphanet.tsv index e8ac282ba..b1485921e 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_orphanet.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_orphanet.tsv @@ -1,115 +1,21 @@ 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:0007024 Yersinia pseudotuberculosis infectious disease skos:closeMatch Orphanet:659707 Yersinia pseudotuberculosis infection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043410 LEXMATCH MONDO:0007024 Yersinia pseudotuberculosis infectious disease skos:closeMatch Orphanet:659707 Yersinia pseudotuberculosis infection semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref umls:c0043410 LEXMATCH -MONDO:0010512 intellectual disability, X-linked, syndromic, Bain type skos:closeMatch Orphanet:662198 Neurodevelopmental delay-intellectual disability-skeletal defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300986 LEXMATCH -MONDO:0010512 intellectual disability, X-linked, syndromic, Bain type skos:closeMatch Orphanet:662198 Neurodevelopmental delay-intellectual disability-skeletal defects syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300986 LEXMATCH -MONDO:0010512 intellectual disability, X-linked, syndromic, Bain type skos:closeMatch Orphanet:662198 Neurodevelopmental delay-intellectual disability-skeletal defects syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:300986 LEXMATCH -MONDO:0011141 megaloblastic anemia, folate-responsive skos:closeMatch Orphanet:661412 Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601775 LEXMATCH -MONDO:0011141 megaloblastic anemia, folate-responsive skos:closeMatch Orphanet:661412 Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601775 LEXMATCH -MONDO:0011141 megaloblastic anemia, folate-responsive skos:closeMatch Orphanet:661412 Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:601775 LEXMATCH -MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch Orphanet:662169 Phelan-McDermid syndrome due to 22q13.3 deletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606232 LEXMATCH -MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch Orphanet:662169 Phelan-McDermid syndrome due to 22q13.3 deletion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 22q13.3 deletion syndrome LEXMATCH -MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch Orphanet:662169 Phelan-McDermid syndrome due to 22q13.3 deletion semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606232 LEXMATCH -MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch Orphanet:662169 Phelan-McDermid syndrome due to 22q13.3 deletion semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:606232 LEXMATCH -MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch Orphanet:662172 Phelan-McDermid syndrome due to SHANK3 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606232 LEXMATCH -MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch Orphanet:662172 Phelan-McDermid syndrome due to SHANK3 mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606232 LEXMATCH -MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch Orphanet:662172 Phelan-McDermid syndrome due to SHANK3 mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:606232 LEXMATCH -MONDO:0013266 intellectual disability, autosomal dominant 20 skos:closeMatch Orphanet:664410 Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613443 LEXMATCH -MONDO:0013266 intellectual disability, autosomal dominant 20 skos:closeMatch Orphanet:664410 Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613443 LEXMATCH -MONDO:0013266 intellectual disability, autosomal dominant 20 skos:closeMatch Orphanet:664410 Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:613443 LEXMATCH MONDO:0013266 intellectual disability, autosomal dominant 20 skos:closeMatch Orphanet:664416 Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613443 LEXMATCH MONDO:0013266 intellectual disability, autosomal dominant 20 skos:closeMatch Orphanet:664416 Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613443 LEXMATCH MONDO:0013266 intellectual disability, autosomal dominant 20 skos:closeMatch Orphanet:664416 Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:613443 LEXMATCH -MONDO:0014000 congenital heart defects, multiple types, 2 skos:closeMatch Orphanet:664401 Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614980 LEXMATCH -MONDO:0014000 congenital heart defects, multiple types, 2 skos:closeMatch Orphanet:664401 Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614980 LEXMATCH -MONDO:0014000 congenital heart defects, multiple types, 2 skos:closeMatch Orphanet:664401 Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:614980 LEXMATCH -MONDO:0014000 congenital heart defects, multiple types, 2 skos:closeMatch Orphanet:664404 6q25.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614980 LEXMATCH -MONDO:0014000 congenital heart defects, multiple types, 2 skos:closeMatch Orphanet:664404 6q25.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614980 LEXMATCH -MONDO:0014000 congenital heart defects, multiple types, 2 skos:closeMatch Orphanet:664404 6q25.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:614980 LEXMATCH -MONDO:0014128 TCF12-related craniosynostosis skos:closeMatch Orphanet:672979 Craniosynostosis-facial dysmorphism-brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615314 LEXMATCH -MONDO:0014128 TCF12-related craniosynostosis skos:closeMatch Orphanet:672979 Craniosynostosis-facial dysmorphism-brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615314 LEXMATCH -MONDO:0014128 TCF12-related craniosynostosis skos:closeMatch Orphanet:672979 Craniosynostosis-facial dysmorphism-brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:615314 LEXMATCH -MONDO:0014705 craniosynostosis 6 skos:closeMatch Orphanet:672985 Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616602 LEXMATCH -MONDO:0014705 craniosynostosis 6 skos:closeMatch Orphanet:672985 Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616602 LEXMATCH -MONDO:0014705 craniosynostosis 6 skos:closeMatch Orphanet:672985 Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:616602 LEXMATCH -MONDO:0014948 short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay skos:closeMatch Orphanet:659702 Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617164 LEXMATCH -MONDO:0014948 short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay skos:closeMatch Orphanet:659702 Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617164 LEXMATCH -MONDO:0014948 short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay skos:closeMatch Orphanet:659702 Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617164 LEXMATCH MONDO:0015057 renin-angiotensin-aldosterone system-blocker-induced angioedema skos:closeMatch Orphanet:673574 Reactive angioendotheliomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym reactive angioendotheliomatosis LEXMATCH MONDO:0015057 renin-angiotensin-aldosterone system-blocker-induced angioedema skos:closeMatch Orphanet:673574 Reactive angioendotheliomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label reactive angioendotheliomatosis LEXMATCH MONDO:0023650 littoral cell angioma of the spleen skos:closeMatch Orphanet:673538 Littoral cell hemangioma of the spleen semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym littoral cell angioma LEXMATCH -MONDO:0024607 congenital muscular dystrophy with cataracts and intellectual disability skos:closeMatch Orphanet:662184 Congenital muscular dystrophy-cataract-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617404 LEXMATCH -MONDO:0024607 congenital muscular dystrophy with cataracts and intellectual disability skos:closeMatch Orphanet:662184 Congenital muscular dystrophy-cataract-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617404 LEXMATCH -MONDO:0024607 congenital muscular dystrophy with cataracts and intellectual disability skos:closeMatch Orphanet:662184 Congenital muscular dystrophy-cataract-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617404 LEXMATCH -MONDO:0024777 immunodeficiency 98 with autoinflammation, X-linked skos:closeMatch Orphanet:675628 TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301078 LEXMATCH -MONDO:0024777 immunodeficiency 98 with autoinflammation, X-linked skos:closeMatch Orphanet:675628 TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301078 LEXMATCH -MONDO:0024777 immunodeficiency 98 with autoinflammation, X-linked skos:closeMatch Orphanet:675628 TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:301078 LEXMATCH -MONDO:0030524 mucopolysaccharidosis, type 10 skos:closeMatch Orphanet:662216 Mucopolysaccharidosis type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619698 LEXMATCH -MONDO:0030524 mucopolysaccharidosis, type 10 skos:closeMatch Orphanet:662216 Mucopolysaccharidosis type 10 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619698 LEXMATCH -MONDO:0030524 mucopolysaccharidosis, type 10 skos:closeMatch Orphanet:662216 Mucopolysaccharidosis type 10 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619698 LEXMATCH MONDO:0030858 immunodeficiency 75 skos:closeMatch Orphanet:664729 EBV-induced lymphoproliferative disease due to TET2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619126 LEXMATCH MONDO:0030858 immunodeficiency 75 skos:closeMatch Orphanet:664729 EBV-induced lymphoproliferative disease due to TET2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619126 LEXMATCH MONDO:0030858 immunodeficiency 75 skos:closeMatch Orphanet:664729 EBV-induced lymphoproliferative disease due to TET2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619126 LEXMATCH -MONDO:0032820 neurodevelopmental disorder with structural brain anomalies and dysmorphic facies skos:closeMatch Orphanet:659609 Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618577 LEXMATCH -MONDO:0032820 neurodevelopmental disorder with structural brain anomalies and dysmorphic facies skos:closeMatch Orphanet:659609 Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618577 LEXMATCH -MONDO:0032820 neurodevelopmental disorder with structural brain anomalies and dysmorphic facies skos:closeMatch Orphanet:659609 Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618577 LEXMATCH -MONDO:0032838 neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies skos:closeMatch Orphanet:664923 Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618622 LEXMATCH -MONDO:0032838 neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies skos:closeMatch Orphanet:664923 Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618622 LEXMATCH -MONDO:0032838 neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies skos:closeMatch Orphanet:664923 Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618622 LEXMATCH -MONDO:0032899 neutropenia, severe congenital, 8, autosomal dominant skos:closeMatch Orphanet:675767 Severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to SRP54 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618752 LEXMATCH -MONDO:0032899 neutropenia, severe congenital, 8, autosomal dominant skos:closeMatch Orphanet:675767 Severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to SRP54 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618752 LEXMATCH -MONDO:0032899 neutropenia, severe congenital, 8, autosomal dominant skos:closeMatch Orphanet:675767 Severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to SRP54 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618752 LEXMATCH -MONDO:0032928 T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant skos:closeMatch Orphanet:676039 Combined immunodeficiency due to FOXN1 haploinsufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618806 LEXMATCH -MONDO:0032928 T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant skos:closeMatch Orphanet:676039 Combined immunodeficiency due to FOXN1 haploinsufficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618806 LEXMATCH -MONDO:0032928 T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant skos:closeMatch Orphanet:676039 Combined immunodeficiency due to FOXN1 haploinsufficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618806 LEXMATCH -MONDO:0032942 neurodevelopmental disorder with microcephaly and dysmorphic facies skos:closeMatch Orphanet:662179 Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618828 LEXMATCH -MONDO:0032942 neurodevelopmental disorder with microcephaly and dysmorphic facies skos:closeMatch Orphanet:662179 Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618828 LEXMATCH -MONDO:0032942 neurodevelopmental disorder with microcephaly and dysmorphic facies skos:closeMatch Orphanet:662179 Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618828 LEXMATCH -MONDO:0032943 neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies skos:closeMatch Orphanet:662175 Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618829 LEXMATCH -MONDO:0032943 neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies skos:closeMatch Orphanet:662175 Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618829 LEXMATCH -MONDO:0032943 neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies skos:closeMatch Orphanet:662175 Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618829 LEXMATCH -MONDO:0060763 intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities skos:closeMatch Orphanet:662829 Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618092 LEXMATCH -MONDO:0060763 intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities skos:closeMatch Orphanet:662829 Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618092 LEXMATCH -MONDO:0060763 intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities skos:closeMatch Orphanet:662829 Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618092 LEXMATCH MONDO:0100433 ACTB-associated syndromic thrombocytopenia skos:closeMatch Orphanet:674653 Actinomyopathy-associated syndromic thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620475 LEXMATCH MONDO:0100433 ACTB-associated syndromic thrombocytopenia skos:closeMatch Orphanet:674653 Actinomyopathy-associated syndromic thrombocytopenia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620475 LEXMATCH MONDO:0100433 ACTB-associated syndromic thrombocytopenia skos:closeMatch Orphanet:674653 Actinomyopathy-associated syndromic thrombocytopenia semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620475 LEXMATCH -MONDO:0800045 autoinflammatory syndrome, familial, Behcet-like 1 skos:closeMatch Orphanet:674762 Early-onset autoinflammatory syndrome due to A20 haploinsufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616744 LEXMATCH -MONDO:0800045 autoinflammatory syndrome, familial, Behcet-like 1 skos:closeMatch Orphanet:674762 Early-onset autoinflammatory syndrome due to A20 haploinsufficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616744 LEXMATCH -MONDO:0800045 autoinflammatory syndrome, familial, Behcet-like 1 skos:closeMatch Orphanet:674762 Early-onset autoinflammatory syndrome due to A20 haploinsufficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:616744 LEXMATCH -MONDO:0859206 neurodevelopmental disorder with hearing loss and spasticity skos:closeMatch Orphanet:659975 Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619616 LEXMATCH -MONDO:0859206 neurodevelopmental disorder with hearing loss and spasticity skos:closeMatch Orphanet:659975 Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619616 LEXMATCH -MONDO:0859206 neurodevelopmental disorder with hearing loss and spasticity skos:closeMatch Orphanet:659975 Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619616 LEXMATCH -MONDO:0859257 intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism skos:closeMatch Orphanet:660012 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619911 LEXMATCH -MONDO:0859257 intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism skos:closeMatch Orphanet:660012 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619911 LEXMATCH -MONDO:0859257 intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism skos:closeMatch Orphanet:660012 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619911 LEXMATCH -MONDO:0859257 intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism skos:closeMatch Orphanet:660017 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619911 LEXMATCH -MONDO:0859257 intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism skos:closeMatch Orphanet:660017 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619911 LEXMATCH -MONDO:0859257 intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism skos:closeMatch Orphanet:660017 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619911 LEXMATCH -MONDO:0859267 tumor predisposition syndrome 2 skos:closeMatch Orphanet:661526 MBD4-related tumor predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619975 LEXMATCH -MONDO:0859267 tumor predisposition syndrome 2 skos:closeMatch Orphanet:661526 MBD4-related tumor predisposition syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619975 LEXMATCH -MONDO:0859267 tumor predisposition syndrome 2 skos:closeMatch Orphanet:661526 MBD4-related tumor predisposition syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619975 LEXMATCH -MONDO:0859297 neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities skos:closeMatch Orphanet:662189 Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620073 LEXMATCH -MONDO:0859297 neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities skos:closeMatch Orphanet:662189 Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620073 LEXMATCH -MONDO:0859297 neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities skos:closeMatch Orphanet:662189 Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620073 LEXMATCH -MONDO:0859324 developmental delay, language impairment, and ocular abnormalities skos:closeMatch Orphanet:662762 Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620141 LEXMATCH -MONDO:0859324 developmental delay, language impairment, and ocular abnormalities skos:closeMatch Orphanet:662762 Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620141 LEXMATCH -MONDO:0859324 developmental delay, language impairment, and ocular abnormalities skos:closeMatch Orphanet:662762 Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620141 LEXMATCH -MONDO:0859340 spinocerebellar ataxia 27B, late-onset skos:closeMatch Orphanet:675216 Spinocerebellar ataxia type 27B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620174 LEXMATCH -MONDO:0859340 spinocerebellar ataxia 27B, late-onset skos:closeMatch Orphanet:675216 Spinocerebellar ataxia type 27B semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620174 LEXMATCH -MONDO:0859340 spinocerebellar ataxia 27B, late-onset skos:closeMatch Orphanet:675216 Spinocerebellar ataxia type 27B semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620174 LEXMATCH MONDO:0859526 immunodeficiency 109 with lymphoproliferation skos:closeMatch Orphanet:664726 EBV-induced lymphoproliferative disease due to CD137 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620282 LEXMATCH MONDO:0859526 immunodeficiency 109 with lymphoproliferation skos:closeMatch Orphanet:664726 EBV-induced lymphoproliferative disease due to CD137 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620282 LEXMATCH MONDO:0859526 immunodeficiency 109 with lymphoproliferation skos:closeMatch Orphanet:664726 EBV-induced lymphoproliferative disease due to CD137 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620282 LEXMATCH -MONDO:0957955 immunodeficiency 114, folate-responsive skos:closeMatch Orphanet:661412 Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620603 LEXMATCH -MONDO:0957955 immunodeficiency 114, folate-responsive skos:closeMatch Orphanet:661412 Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620603 LEXMATCH -MONDO:0957955 immunodeficiency 114, folate-responsive skos:closeMatch Orphanet:661412 Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620603 LEXMATCH -MONDO:0958278 neurodevelopmental disorder with hypotonia and characteristic brain abnormalities skos:closeMatch Orphanet:664430 Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620746 LEXMATCH -MONDO:0958278 neurodevelopmental disorder with hypotonia and characteristic brain abnormalities skos:closeMatch Orphanet:664430 Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620746 LEXMATCH -MONDO:0958278 neurodevelopmental disorder with hypotonia and characteristic brain abnormalities skos:closeMatch Orphanet:664430 Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620746 LEXMATCH -MONDO:0971007 neuroocular syndrome 1 skos:closeMatch Orphanet:659904 Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619539 LEXMATCH -MONDO:0971007 neuroocular syndrome 1 skos:closeMatch Orphanet:659904 Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619539 LEXMATCH -MONDO:0971007 neuroocular syndrome 1 skos:closeMatch Orphanet:659904 Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619539 LEXMATCH MONDO:8000024 autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD skos:closeMatch Orphanet:664711 EBV-induced lymphoproliferative disease due to PRKCD deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615559 LEXMATCH MONDO:8000024 autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD skos:closeMatch Orphanet:664711 EBV-induced lymphoproliferative disease due to PRKCD deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615559 LEXMATCH MONDO:8000024 autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD skos:closeMatch Orphanet:664711 EBV-induced lymphoproliferative disease due to PRKCD deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:615559 LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_doid.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_doid.tsv index 52fe98934..28a1174f5 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_doid.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_doid.tsv @@ -1,12 +1,10 @@ subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string comment -MONDO:0000188 GLUT1 deficiency syndrome skos:exactMatch DOID:0070560 glucose transporter type 1 deficiency syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omimps:606777 LEXMATCH MONDO:0000275 obsolete monogenic disease skos:exactMatch DOID:0050177 monogenic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0000601 obsolete autoimmune disorder of urogenital tract skos:exactMatch DOID:0060049 autoimmune disease of urogenital tract semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0000742 obsolete persistent generalized lymphadenopathy skos:exactMatch DOID:0060314 persistent generalized lymphadenopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0000834 obsolete bone deterioration disease skos:exactMatch DOID:0080007 bone deterioration disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0000839 obsolete congenital abnormality skos:exactMatch DOID:0080015 physical disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0000857 obsolete Charcot-Marie-Tooth disease type 7 skos:exactMatch DOID:0080069 Charcot-Marie-Tooth disease type 7 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0001083 Fanconi renotubular syndrome skos:exactMatch DOID:0070562 Fanconi-Bickel syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:d005198 LEXMATCH MONDO:0001254 obsolete peripheral scars of retina skos:exactMatch DOID:11283 peripheral scars of retina semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0001324 obsolete hyperandrogenism skos:exactMatch DOID:11613 hyperandrogenism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0001467 obsolete specific bursitis often of occupational origin skos:exactMatch DOID:12223 specific bursitis often of occupational origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS @@ -26,57 +24,59 @@ MONDO:0005128 obsolete sensory system disease skos:exactMatch DOID:0050155 senso MONDO:0005641 aleutian mink disease skos:exactMatch DOID:2934 aleutian mink disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aleutian mink disorder LEXMATCH MONDO:0005676 borna disease skos:exactMatch DOID:5154 borna disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label borna disorder LEXMATCH MONDO:0005862 obsolete multiple chemical sensitivity skos:exactMatch DOID:4661 multiple chemical sensitivity semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0006466 thyroid gland spindle cell tumor with thymus-like differentiation skos:exactMatch DOID:0081461 thyroid gland spindle epithelial tumor with thymus-like elements semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym thyroid gland spindle cell tumor with thymus-like differentiation LEXMATCH MONDO:0006674 obsolete benign fibrous mesothelioma skos:exactMatch DOID:2653 benign fibrous mesothelioma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0006879 optic papillitis skos:exactMatch DOID:146 papilledema semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym papilledema LEXMATCH MONDO:0006879 optic papillitis skos:exactMatch DOID:146 papilledema semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label papilledema LEXMATCH MONDO:0007744 cholesterol-ester transfer protein deficiency skos:exactMatch DOID:0111368 cholesterol-ester transfer protein deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholesterol-ester transfer protein deficiency LEXMATCH -MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 skos:exactMatch DOID:0070552 epidermolytic palmoplantar keratoderma 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:144200 LEXMATCH -MONDO:0007860 focal palmoplantar and gingival keratoderma skos:exactMatch DOID:0070553 focal palmoplantar and gingival keratosis semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c536157 LEXMATCH -MONDO:0007860 focal palmoplantar and gingival keratoderma skos:exactMatch DOID:0070553 focal palmoplantar and gingival keratosis semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:148730 LEXMATCH -MONDO:0008265 polycystic liver disease 1 skos:exactMatch DOID:0060980 polycystic liver disease 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:174050 LEXMATCH -MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:exactMatch DOID:0070562 Fanconi-Bickel syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:227810 LEXMATCH +MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium skos:exactMatch DOID:0070564 dialysis disequilibrium syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dialysis dysequilibrium syndrome LEXMATCH MONDO:0009669 spinal muscular atrophy, type 1 skos:exactMatch DOID:0060160 childhood spinal muscular atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym survival motor neuron spinal muscular atrophy LEXMATCH MONDO:0009917 pseudohypoaldosteronism, type IB1, autosomal recessive skos:exactMatch DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:264350 LEXMATCH -MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:exactMatch DOID:0070550 KRT1-related nonepidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:600962 LEXMATCH -MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:exactMatch DOID:0070560 glucose transporter type 1 deficiency syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c536830 LEXMATCH -MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:exactMatch DOID:0070561 glucose transporter type 1 deficiency syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:606777 LEXMATCH -MONDO:0011731 glucose-galactose malabsorption skos:exactMatch DOID:0070563 glucose-galactose malabsorption semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c562602 LEXMATCH -MONDO:0011731 glucose-galactose malabsorption skos:exactMatch DOID:0070563 glucose-galactose malabsorption semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:606824 LEXMATCH MONDO:0012144 Waardenburg syndrome type 2D skos:exactMatch DOID:0110952 obsolete Waardenburg syndrome type 2D semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0012430 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 skos:exactMatch DOID:0070557 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c567656 LEXMATCH -MONDO:0012430 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 skos:exactMatch DOID:0070557 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:610185 LEXMATCH -MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 skos:exactMatch DOID:0070547 primary pigmented nodular adrenocortical disease 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c566472 LEXMATCH -MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 skos:exactMatch DOID:0070547 primary pigmented nodular adrenocortical disease 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:610475 LEXMATCH -MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 skos:exactMatch DOID:0070546 primary pigmented nodular adrenocortical disease 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c566469 LEXMATCH -MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 skos:exactMatch DOID:0070546 primary pigmented nodular adrenocortical disease 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:610489 LEXMATCH -MONDO:0013188 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 skos:exactMatch DOID:0070558 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c567690 LEXMATCH -MONDO:0013188 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 skos:exactMatch DOID:0070558 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:613227 LEXMATCH -MONDO:0013616 pigmented nodular adrenocortical disease, primary, 3 skos:exactMatch DOID:0070548 primary pigmented nodular adrenocortical disease 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:614190 LEXMATCH -MONDO:0014104 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 skos:exactMatch DOID:0070559 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:615268 LEXMATCH -MONDO:0014272 palmoplantar keratoderma, Nagashima type skos:exactMatch DOID:0070555 Nagashima-type palmoplantar keratosis semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:615598 LEXMATCH -MONDO:0014359 pigmented nodular adrenocortical disease, primary, 4 skos:exactMatch DOID:0070549 primary pigmented nodular adrenocortical disease 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:615830 LEXMATCH -MONDO:0014492 wooly hair-palmoplantar keratoderma syndrome skos:exactMatch DOID:0070554 palmoplantar keratoderma and woolly hair semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:616099 LEXMATCH -MONDO:0014860 polycystic liver disease 2 skos:exactMatch DOID:0060975 polycystic liver disease 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617004 LEXMATCH MONDO:0017841 obsolete autoimmune disease with skin involvement skos:exactMatch DOID:0060039 autoimmune disease of skin and connective tissue semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020748 sitosterolemia 2 skos:exactMatch DOID:0060983 sitosterolemia 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618666 LEXMATCH MONDO:0020796 Silver-Russell syndrome 1 skos:exactMatch DOID:14681 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:180860 LEXMATCH MONDO:0021199 obsolete disease by anatomical system skos:exactMatch DOID:7 disease of anatomical entity semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0021668 obsolete disorder involving pain skos:exactMatch DOID:0060164 pain disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:exactMatch DOID:0070556 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:224050 LEXMATCH MONDO:0024657 obsolete macrocystic neurilemmoma skos:exactMatch DOID:3203 macrocystic neurilemmoma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0030374 WHIM syndrome 2 skos:exactMatch DOID:0060973 WHIM syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619407 LEXMATCH -MONDO:0032800 robinow syndrome, autosomal recessive 2 skos:exactMatch DOID:0060974 autosomal recessive Robinow syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618529 LEXMATCH -MONDO:0044325 Fanconi anemia, complementation group W skos:exactMatch DOID:0060978 Fanconi anemia complementation group W semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617784 LEXMATCH -MONDO:0044327 polycystic liver disease 4 with or without kidney cysts skos:exactMatch DOID:0060977 polycystic liver disease 4 with or without kidney cysts semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617875 LEXMATCH -MONDO:0054743 polycystic liver disease 3 with or without kidney cysts skos:exactMatch DOID:0060976 polycystic liver disease 3 with or without kidney cysts semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617874 LEXMATCH -MONDO:0054748 Fanconi anemia, complementation group S skos:exactMatch DOID:0060979 Fanconi anemia complementation group S semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617883 LEXMATCH +MONDO:0024773 spermatogenic failure, X-linked, 4 skos:exactMatch DOID:0070595 X-linked spermatogenic failure 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:301077 LEXMATCH +MONDO:0030716 spermatogenic failure 66 skos:exactMatch DOID:0070565 spermatogenic failure 66 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619799 LEXMATCH +MONDO:0030718 spermatogenic failure 67 skos:exactMatch DOID:0070566 spermatogenic failure 67 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619803 LEXMATCH +MONDO:0030721 spermatogenic failure 68 skos:exactMatch DOID:0070567 spermatogenic failure 68 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619805 LEXMATCH +MONDO:0030732 spermatogenic failure 69 skos:exactMatch DOID:0070568 spermatogenic failure 69 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619826 LEXMATCH +MONDO:0030733 spermatogenic failure 70 skos:exactMatch DOID:0070569 spermatogenic failure 70 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619828 LEXMATCH +MONDO:0030787 spermatogenic failure 71 skos:exactMatch DOID:0070570 spermatogenic failure 71 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619831 LEXMATCH +MONDO:0030809 spermatogenic failure 72 skos:exactMatch DOID:0070571 spermatogenic failure 72 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619867 LEXMATCH +MONDO:0030818 spermatogenic failure 73 skos:exactMatch DOID:0070572 spermatogenic failure 73 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619878 LEXMATCH +MONDO:0030972 spermatogenic failure 74 skos:exactMatch DOID:0070573 spermatogenic failure 74 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619937 LEXMATCH +MONDO:0030984 spermatogenic failure 75 skos:exactMatch DOID:0070574 spermatogenic failure 75 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619949 LEXMATCH +MONDO:0031077 spermatogenic failure 76 skos:exactMatch DOID:0070575 spermatogenic failure 76 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620084 LEXMATCH +MONDO:0031083 spermatogenic failure 77 skos:exactMatch DOID:0070576 spermatogenic failure 77 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620103 LEXMATCH MONDO:0100140 obsolete mild COVID-19 infection skos:exactMatch DOID:0081014 non-severe COVID-19 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0100142 obsolete severe COVID-19 infection skos:exactMatch DOID:0081013 severe COVID-19 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0100143 obsolete critical COVID-19 infection skos:exactMatch DOID:0081012 critical COVID-19 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0800029 interstitial lung disease 2 skos:exactMatch DOID:0060971 interstitial lung disease 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:178500 LEXMATCH +MONDO:0800029 interstitial lung disease 2 skos:exactMatch DOID:0050156 idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cryptogenic fibrosing alveolitis LEXMATCH +MONDO:0800029 interstitial lung disease 2 skos:exactMatch DOID:0050156 idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fibrocystic pulmonary dysplasia LEXMATCH +MONDO:0800029 interstitial lung disease 2 skos:exactMatch DOID:0050156 idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym idiopathic pulmonary fibrosis LEXMATCH +MONDO:0800029 interstitial lung disease 2 skos:exactMatch DOID:0050156 idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym idiopathic pulmonary fibrosis, familial LEXMATCH +MONDO:0800029 interstitial lung disease 2 skos:exactMatch DOID:0050156 idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label idiopathic pulmonary fibrosis LEXMATCH MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 skos:exactMatch DOID:14671 multiple intestinal atresia semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:243150 LEXMATCH -MONDO:0859328 hypomagnesemia 7, renal, with or without dilated cardiomyopathy skos:exactMatch DOID:0060972 renal hypomagnesemia 7, with or without dilated cardiomyopathy semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620152 LEXMATCH -MONDO:0859329 mosaic variegated aneuploidy syndrome 4 skos:exactMatch DOID:0060981 mosaic variegated aneuploidy syndrome 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620153 LEXMATCH -MONDO:0859346 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition skos:exactMatch DOID:0060982 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620189 LEXMATCH -MONDO:0957303 palmoplantar keratoderma, epidermolytic, 2 skos:exactMatch DOID:0070551 epidermolytic palmoplantar keratoderma 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620411 LEXMATCH +MONDO:0859338 spermatogenic failure 78 skos:exactMatch DOID:0070577 spermatogenic failure 78 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620170 LEXMATCH +MONDO:0859352 spermatogenic failure 79 skos:exactMatch DOID:0070578 spermatogenic failure 79 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620196 LEXMATCH +MONDO:0859364 spermatogenic failure 80 skos:exactMatch DOID:0070579 spermatogenic failure 80 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620222 LEXMATCH +MONDO:0859477 spermatogenic failure, X-linked, 5 skos:exactMatch DOID:0070596 X-linked spermatogenic failure 5 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:301099 LEXMATCH +MONDO:0859478 spermatogenic failure, X-linked, 6 skos:exactMatch DOID:0070597 X-linked spermatogenic failure 6 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:301101 LEXMATCH +MONDO:0859522 spermatogenic failure 81 skos:exactMatch DOID:0070580 spermatogenic failure 81 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620277 LEXMATCH +MONDO:0957202 spermatogenic failure, X-linked, 7 skos:exactMatch DOID:0070598 X-linked spermatogenic failure 7 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:301106 LEXMATCH +MONDO:0957249 spermatogenic failure 82 skos:exactMatch DOID:0070581 spermatogenic failure 82 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620353 LEXMATCH +MONDO:0957250 spermatogenic failure 83 skos:exactMatch DOID:0070582 spermatogenic failure 83 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620354 LEXMATCH +MONDO:0957301 spermatogenic failure 84 skos:exactMatch DOID:0070583 spermatogenic failure 84 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620409 LEXMATCH +MONDO:0957584 spermatogenic failure 85 skos:exactMatch DOID:0070584 spermatogenic failure 85 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620490 LEXMATCH +MONDO:0957593 spermatogenic failure 86 skos:exactMatch DOID:0070585 spermatogenic failure 86 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620499 LEXMATCH +MONDO:0957594 spermatogenic failure 87 skos:exactMatch DOID:0070586 spermatogenic failure 87 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620500 LEXMATCH +MONDO:0957821 spermatogenic failure 88 skos:exactMatch DOID:0070587 spermatogenic failure 88 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620547 LEXMATCH +MONDO:0958206 spermatogenic failure 89 skos:exactMatch DOID:0070588 spermatogenic failure 89 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620705 LEXMATCH +MONDO:0958242 spermatogenic failure 90 skos:exactMatch DOID:0070589 spermatogenic failure 90 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620744 LEXMATCH +MONDO:0970943 spermatogenic failure, x-linked, 8 skos:exactMatch DOID:0070599 X-linked spermatogenic failure 8 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:301119 LEXMATCH +MONDO:0970952 spermatogenic failure 91 skos:exactMatch DOID:0070590 spermatogenic failure 91 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620838 LEXMATCH +MONDO:0970999 spermatogenic failure 92 skos:exactMatch DOID:0070591 spermatogenic failure 92 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620848 LEXMATCH +MONDO:0971000 spermatogenic failure 93 skos:exactMatch DOID:0070592 spermatogenic failure 93 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620849 LEXMATCH +MONDO:0971002 spermatogenic failure 94 skos:exactMatch DOID:0070593 spermatogenic failure 94 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620850 LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10cm.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10cm.tsv index f89718347..28a701340 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10cm.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10cm.tsv @@ -640,8 +640,6 @@ MONDO:0004582 rheumatic myocarditis skos:exactMatch ICD10CM:I09.0 Rheumatic myoc MONDO:0004582 rheumatic myocarditis skos:exactMatch ICD10CM:M05.3 Rheumatoid heart disease with rheumatoid arthritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rheumatoid myocarditis LEXMATCH MONDO:0004584 maple bark strippers' lung skos:exactMatch ICD10CM:J67.6 Maple-bark-stripper's lung semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alveolitis due to cryptostroma corticale LEXMATCH MONDO:0004585 polyhydramnios skos:exactMatch ICD10CM:O40 Polyhydramnios semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyhydramnios LEXMATCH -MONDO:0004587 hereditary night blindness skos:exactMatch ICD10CM:H53.63 Congenital night blindness semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital night blindness LEXMATCH -MONDO:0004587 hereditary night blindness skos:exactMatch ICD10CM:H53.63 Congenital night blindness semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital night blindness LEXMATCH MONDO:0004592 impetigo skos:exactMatch ICD10CM:L01.0 Impetigo semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label impetigo LEXMATCH MONDO:0004600 monocytic leukemia skos:exactMatch ICD10CM:C93 Monocytic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monocytic leukemia LEXMATCH MONDO:0004604 Hodgkin's lymphoma, lymphocytic-histiocytic predominance skos:exactMatch ICD10CM:C81.4 Lymphocyte-rich Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lymphocyte-rich classical hodgkin lymphoma LEXMATCH @@ -1675,6 +1673,8 @@ MONDO:0016158 narcolepsy-cataplexy syndrome skos:exactMatch ICD10CM:G47.411 Narc MONDO:0016215 spastic quadriplegic cerebral palsy skos:exactMatch ICD10CM:G80.0 Spastic quadriplegic cerebral palsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic quadriplegic cerebral palsy LEXMATCH MONDO:0016242 hemoglobin C disease skos:exactMatch ICD10CM:D58.2 Other hemoglobinopathies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hb-c disorder LEXMATCH MONDO:0016243 hemoglobin E disease skos:exactMatch ICD10CM:D58.2 Other hemoglobinopathies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hb-e disorder LEXMATCH +MONDO:0016293 congenital stationary night blindness skos:exactMatch ICD10CM:H53.63 Congenital night blindness semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital night blindness LEXMATCH +MONDO:0016293 congenital stationary night blindness skos:exactMatch ICD10CM:H53.63 Congenital night blindness semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital night blindness LEXMATCH MONDO:0016301 congenitally corrected transposition of the great arteries skos:exactMatch ICD10CM:Q20.5 Discordant atrioventricular connection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ventricular inversion LEXMATCH MONDO:0016344 hydranencephaly skos:exactMatch ICD10CM:Q04.3 Other reduction deformities of brain semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hydranencephaly LEXMATCH MONDO:0016344 hydranencephaly skos:exactMatch ICD10CM:Q04.3 Other reduction deformities of brain semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hydranencephaly LEXMATCH @@ -2375,3 +2375,4 @@ MONDO:0859598 erythroleukemia skos:exactMatch ICD10CM:C94.0 Acute erythroid leuk MONDO:0956962 benign teratoma skos:exactMatch ICD10CM:D28 Benign neoplasm of other and unspecified female genital organs semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym benign teratoma LEXMATCH MONDO:0956980 vascular parkinsonism skos:exactMatch ICD10CM:G21.4 Vascular parkinsonism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vascular parkinsonism LEXMATCH MONDO:0958083 conjoined twins skos:exactMatch ICD10CM:Q89.4 Conjoined twins semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label conjoined twins LEXMATCH +MONDO:0971058 verruga peruana skos:exactMatch ICD10CM:A44.1 Cutaneous and mucocutaneous bartonellosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym verruga peruana LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10who.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10who.tsv index 344051eab..270b63553 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10who.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10who.tsv @@ -1554,8 +1554,6 @@ MONDO:0024303 external hirudiniasis skos:exactMatch ICD10WHO:B88.3 External hiru MONDO:0024304 ichthyosis vulgaris skos:exactMatch ICD10WHO:Q80.0 Ichthyosis vulgaris semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ichthyosis vulgaris LEXMATCH MONDO:0024333 sciatica skos:exactMatch ICD10WHO:M54.3 Sciatica semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sciatica LEXMATCH MONDO:0024349 pityriasis alba skos:exactMatch ICD10WHO:L30.5 Pityriasis alba semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pityriasis alba LEXMATCH -MONDO:0024361 circadian rhythm sleep disorder skos:exactMatch ICD10WHO:G47.2 Disorders of the sleep-wake schedule semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym disorders of the sleep-wake schedule LEXMATCH -MONDO:0024361 circadian rhythm sleep disorder skos:exactMatch ICD10WHO:G47.2 Disorders of the sleep-wake schedule semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorders of the sleep-wake schedule LEXMATCH MONDO:0024376 sleep disorder, initiating and maintaining sleep skos:exactMatch ICD10WHO:G47.0 Disorders of initiating and maintaining sleep [insomnias] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym disorders of initiating and maintaining sleep LEXMATCH MONDO:0024376 sleep disorder, initiating and maintaining sleep skos:exactMatch ICD10WHO:G47.0 Disorders of initiating and maintaining sleep [insomnias] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorders of initiating and maintaining sleep LEXMATCH MONDO:0024574 von Willebrand disease (hereditary or acquired) skos:exactMatch ICD10WHO:D68.0 Von Willebrand disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym von willebrand disorder LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd11.foundation.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd11.foundation.tsv index 5cf351826..6feef6685 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd11.foundation.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd11.foundation.tsv @@ -1350,8 +1350,6 @@ MONDO:0003627 rheumatic pulmonary valve disease skos:exactMatch icd11.foundation MONDO:0003628 pulmonary valve disorder skos:exactMatch icd11.foundation:1146446025 Pulmonary valve disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary valve disorder LEXMATCH MONDO:0003630 pancreatic serous cystadenocarcinoma skos:exactMatch icd11.foundation:1624575808 Serous cystadenocarcinoma of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym serous cystadenocarcinoma of pancreas LEXMATCH MONDO:0003630 pancreatic serous cystadenocarcinoma skos:exactMatch icd11.foundation:1624575808 Serous cystadenocarcinoma of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label serous cystadenocarcinoma of pancreas LEXMATCH -MONDO:0003646 rectum neuroendocrine neoplasm skos:exactMatch icd11.foundation:1609550585 Neuroendocrine tumour of rectum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neuroendocrine tumour of rectum LEXMATCH -MONDO:0003646 rectum neuroendocrine neoplasm skos:exactMatch icd11.foundation:1609550585 Neuroendocrine tumour of rectum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neuroendocrine tumour of rectum LEXMATCH MONDO:0003646 rectum neuroendocrine neoplasm skos:exactMatch icd11.foundation:1619951900 Rectal neuroendocrine neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rectal neuroendocrine neoplasm LEXMATCH MONDO:0003646 rectum neuroendocrine neoplasm skos:exactMatch icd11.foundation:1619951900 Rectal neuroendocrine neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rectal neuroendocrine neoplasm LEXMATCH MONDO:0003649 esophageal neuroendocrine tumor skos:exactMatch icd11.foundation:1167478749 Neuroendocrine tumour of oesophagus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neuroendocrine tumour of oesophagus LEXMATCH @@ -1572,8 +1570,6 @@ MONDO:0004582 rheumatic myocarditis skos:exactMatch icd11.foundation:573695921 A MONDO:0004582 rheumatic myocarditis skos:exactMatch icd11.foundation:573695921 Acute rheumatic myocarditis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute rheumatic myocarditis LEXMATCH MONDO:0004584 maple bark strippers' lung skos:exactMatch icd11.foundation:824050477 Maple bark stripper lung semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alveolitis due to cryptostroma corticale LEXMATCH MONDO:0004586 rheumatoid lung disease skos:exactMatch icd11.foundation:2000006803 Respiratory disorders in rheumatoid arthritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym rheumatoid lung disorder LEXMATCH -MONDO:0004587 hereditary night blindness skos:exactMatch icd11.foundation:984060688 Congenital night blindness semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital night blindness LEXMATCH -MONDO:0004587 hereditary night blindness skos:exactMatch icd11.foundation:984060688 Congenital night blindness semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital night blindness LEXMATCH MONDO:0004591 impetigo herpetiformis skos:exactMatch icd11.foundation:1405116325 Generalised pustular psoriasis of pregnancy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym impetigo herpetiformis LEXMATCH MONDO:0004593 Bartholin duct cyst skos:exactMatch icd11.foundation:1632013194 Cyst of Bartholin gland semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bartholin duct cyst LEXMATCH MONDO:0004594 puerperal pulmonary embolism skos:exactMatch icd11.foundation:1983458616 Obstetric blood-clot pulmonary embolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym puerperal pulmonary embolism LEXMATCH @@ -2907,9 +2903,6 @@ MONDO:0007488 Lewy body dementia skos:exactMatch icd11.foundation:2091156678 Lew MONDO:0007488 Lewy body dementia skos:exactMatch icd11.foundation:2091156678 Lewy body disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lewy body disorder LEXMATCH MONDO:0007492 early-onset generalized limb-onset dystonia skos:exactMatch icd11.foundation:253658963 Early onset torsion dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym early onset torsion dystonia LEXMATCH MONDO:0007492 early-onset generalized limb-onset dystonia skos:exactMatch icd11.foundation:253658963 Early onset torsion dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label early onset torsion dystonia LEXMATCH -MONDO:0007495 dystonia 5 skos:exactMatch icd11.foundation:1143673207 Autosomal dominant dopa-responsive dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant segawa syndrome LEXMATCH -MONDO:0007495 dystonia 5 skos:exactMatch icd11.foundation:1143673207 Autosomal dominant dopa-responsive dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dyt5a LEXMATCH -MONDO:0007495 dystonia 5 skos:exactMatch icd11.foundation:1143673207 Autosomal dominant dopa-responsive dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary progressive dystonia with marked diurnal fluctuation LEXMATCH MONDO:0007510 Clouston syndrome skos:exactMatch icd11.foundation:1811429982 Hidrotic ectodermal dysplasia, Clouston type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym clouston syndrome LEXMATCH MONDO:0007510 Clouston syndrome skos:exactMatch icd11.foundation:1811429982 Hidrotic ectodermal dysplasia, Clouston type semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym clouston syndrome LEXMATCH MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:exactMatch icd11.foundation:24232012 Ehlers-Danlos syndrome, hypermobile type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ehlers-danlos syndrome type 3 LEXMATCH @@ -4158,9 +4151,7 @@ MONDO:0011631 hemochromatosis type 4 skos:exactMatch icd11.foundation:1541297428 MONDO:0011638 neuroferritinopathy skos:exactMatch icd11.foundation:55060925 Chorea due to neuroferritinopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adult basal ganglia disorder LEXMATCH MONDO:0011638 neuroferritinopathy skos:exactMatch icd11.foundation:55060925 Chorea due to neuroferritinopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ferritin-related neurodegeneration LEXMATCH MONDO:0011638 neuroferritinopathy skos:exactMatch icd11.foundation:55060925 Chorea due to neuroferritinopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary ferritinopathy LEXMATCH -MONDO:0011652 Phelan-McDermid syndrome skos:exactMatch icd11.foundation:1667492731 22q13 deletion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 22q13 deletion LEXMATCH MONDO:0011652 Phelan-McDermid syndrome skos:exactMatch icd11.foundation:1667492731 22q13 deletion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym phelan-mcdermid syndrome LEXMATCH -MONDO:0011652 Phelan-McDermid syndrome skos:exactMatch icd11.foundation:1667492731 22q13 deletion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 22q13 deletion LEXMATCH MONDO:0011652 Phelan-McDermid syndrome skos:exactMatch icd11.foundation:1667492731 22q13 deletion semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym phelan-mcdermid syndrome LEXMATCH MONDO:0011662 pathological gambling skos:exactMatch icd11.foundation:1041487064 Gambling disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym compulsive gambling LEXMATCH MONDO:0011662 pathological gambling skos:exactMatch icd11.foundation:1041487064 Gambling disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pathological gambling LEXMATCH @@ -4618,7 +4609,6 @@ MONDO:0015053 hereditary angioedema type 1 skos:exactMatch icd11.foundation:1918 MONDO:0015054 hereditary angioedema type 2 skos:exactMatch icd11.foundation:2078615244 Hereditary angioedema type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary angioneurotic oedema type 2 LEXMATCH MONDO:0015059 progressive non-fluent aphasia skos:exactMatch icd11.foundation:2073597518 Frontotemporal dementia, non-fluent or agrammatic variant semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym progressive non-fluent aphasia LEXMATCH MONDO:0015063 duodenal neuroendocrine tumor, well differentiated, low or intermediate grade skos:exactMatch icd11.foundation:123604718 Neuroendocrine tumour of duodenum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym duodenal neuroendocrine tumour LEXMATCH -MONDO:0015068 neuroendocrine tumor of rectum, well differentiated, low or intermediate grade skos:exactMatch icd11.foundation:1619951900 Rectal neuroendocrine neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rectal neuroendocrine tumour LEXMATCH MONDO:0015069 neuroendocrine tumor of the anal canal skos:exactMatch icd11.foundation:1961674648 Anal endocrine tumour semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anal neuroendocrine tumour LEXMATCH MONDO:0015087 autosomal dominant complex spastic paraplegia skos:exactMatch icd11.foundation:873077851 Autosomal dominant complex hereditary spastic paraplegia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant complex hereditary spastic paraplegia LEXMATCH MONDO:0015087 autosomal dominant complex spastic paraplegia skos:exactMatch icd11.foundation:873077851 Autosomal dominant complex hereditary spastic paraplegia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant complex hereditary spastic paraplegia LEXMATCH @@ -4834,6 +4824,8 @@ MONDO:0016259 carcinosarcoma of the corpus uteri skos:exactMatch icd11.foundatio MONDO:0016262 leiomyosarcoma of the corpus uteri skos:exactMatch icd11.foundation:1872567422 Leiomyosarcoma of uterus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leiomyosarcoma of uterus LEXMATCH MONDO:0016262 leiomyosarcoma of the corpus uteri skos:exactMatch icd11.foundation:1872567422 Leiomyosarcoma of uterus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym uterine leiomyosarcoma LEXMATCH MONDO:0016262 leiomyosarcoma of the corpus uteri skos:exactMatch icd11.foundation:1872567422 Leiomyosarcoma of uterus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label leiomyosarcoma of uterus LEXMATCH +MONDO:0016293 congenital stationary night blindness skos:exactMatch icd11.foundation:984060688 Congenital night blindness semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital night blindness LEXMATCH +MONDO:0016293 congenital stationary night blindness skos:exactMatch icd11.foundation:984060688 Congenital night blindness semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital night blindness LEXMATCH MONDO:0016304 classic pantothenate kinase-associated neurodegeneration skos:exactMatch icd11.foundation:453750085 Classic pantothenate kinase associated neurodegeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neurodegeneration with brain iron accumulation type 1, classic form LEXMATCH MONDO:0016305 atypical pantothenate kinase-associated neurodegeneration skos:exactMatch icd11.foundation:267298136 Atypical pantothenate kinase associated neurodegeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neurodegeneration with brain iron accumulation type 1, atypical form LEXMATCH MONDO:0016315 mucopolysaccharidosis type 2, severe form skos:exactMatch icd11.foundation:1561374771 Mucopolysaccharidosis type 2A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hunter syndrome type a LEXMATCH @@ -5755,8 +5747,6 @@ MONDO:0022697 athetoid cerebral palsy skos:exactMatch icd11.foundation:812740125 MONDO:0022697 athetoid cerebral palsy skos:exactMatch icd11.foundation:812740125 Dyskinetic cerebral palsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dyskinetic cerebral palsy LEXMATCH MONDO:0022697 athetoid cerebral palsy skos:exactMatch icd11.foundation:812740125 Dyskinetic cerebral palsy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym athetoid cerebral palsy LEXMATCH MONDO:0022790 cleft tongue skos:exactMatch icd11.foundation:340312243 Bifid tongue semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cleft tongue LEXMATCH -MONDO:0023122 familial prostate carcinoma skos:exactMatch icd11.foundation:1593240346 Familial prostate cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial prostate cancer LEXMATCH -MONDO:0023122 familial prostate carcinoma skos:exactMatch icd11.foundation:1593240346 Familial prostate cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial prostate cancer LEXMATCH MONDO:0023286 graphite pneumoconiosis skos:exactMatch icd11.foundation:1776868524 Graphite fibrosis of lung semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym graphite fibrosis of lung LEXMATCH MONDO:0023286 graphite pneumoconiosis skos:exactMatch icd11.foundation:1776868524 Graphite fibrosis of lung semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym graphite pneumoconiosis LEXMATCH MONDO:0023286 graphite pneumoconiosis skos:exactMatch icd11.foundation:1776868524 Graphite fibrosis of lung semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label graphite fibrosis of lung LEXMATCH @@ -5789,7 +5779,6 @@ MONDO:0024331 colorectal carcinoma skos:exactMatch icd11.foundation:773139368 Ad MONDO:0024332 perennial allergic rhinitis skos:exactMatch icd11.foundation:1240368805 Nonseasonal allergic rhinitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nonseasonal allergic rhinitis LEXMATCH MONDO:0024332 perennial allergic rhinitis skos:exactMatch icd11.foundation:1240368805 Nonseasonal allergic rhinitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nonseasonal allergic rhinitis LEXMATCH MONDO:0024354 cytomegalovirus pneumonia skos:exactMatch icd11.foundation:308444412 Pneumonia due to Cytomegalovirus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cytomegaloviral pneumonia LEXMATCH -MONDO:0024361 circadian rhythm sleep disorder skos:exactMatch icd11.foundation:1359329403 Circadian rhythm sleep-wake disorders semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym disorders of the sleep-wake schedule LEXMATCH MONDO:0024377 circadian rhythm sleep disorder, delayed sleep phase type skos:exactMatch icd11.foundation:1359329403 Circadian rhythm sleep-wake disorders semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym delayed sleep phase syndrome LEXMATCH MONDO:0024379 circadian rhythm sleep disorder, irregular sleep wake type skos:exactMatch icd11.foundation:1359329403 Circadian rhythm sleep-wake disorders semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym irregular sleep-wake pattern LEXMATCH MONDO:0024381 circadian rhythm sleep disorder, jet lag type skos:exactMatch icd11.foundation:1461346778 Jet lag semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym jet lag LEXMATCH @@ -6077,7 +6066,14 @@ MONDO:0850225 autoimmune cholangitis skos:exactMatch icd11.foundation:421189700 MONDO:0859565 atrioventricular septal defect skos:exactMatch icd11.foundation:1069974993 Common atrioventricular junction with atrioventricular septal defect semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym atrioventricular septal defect LEXMATCH MONDO:0957426 autosomal recessive hyper-IgE syndrome skos:exactMatch icd11.foundation:1909398175 Autosomal recessive hyperimmunoglobulin E syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive hyper-ige syndrome LEXMATCH MONDO:0957462 primary pulmonary tuberculosis skos:exactMatch icd11.foundation:60063379 Primary respiratory tuberculosis without mention of bacteriological or histological confirmation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym primary pulmonary tuberculosis LEXMATCH +MONDO:0971058 verruga peruana skos:exactMatch icd11.foundation:1480386521 Verruga peruana semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label verruga peruana LEXMATCH +MONDO:0971063 autosomal dominant dopa-responsive dystonia skos:exactMatch icd11.foundation:1143673207 Autosomal dominant dopa-responsive dystonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant dopa-responsive dystonia LEXMATCH +MONDO:0971107 common arterial trunk with aortic dominance skos:exactMatch icd11.foundation:551770382 Common arterial trunk with aortic dominance semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label common arterial trunk with aortic dominance LEXMATCH +MONDO:0971108 common arterial trunk with pulmonary dominance and interrupted aortic arch skos:exactMatch icd11.foundation:97579611 Common arterial trunk with pulmonary dominance and interrupted aortic arch semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label common arterial trunk with pulmonary dominance and interrupted aortic arch LEXMATCH +MONDO:0971127 diffuse unilateral subacute neuroretinitis skos:exactMatch icd11.foundation:1362820694 Diffuse unilateral subacute neuroretinitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse unilateral subacute neuroretinitis LEXMATCH +MONDO:0971128 multiple evanescent white dot syndrome skos:exactMatch icd11.foundation:1817745681 Multiple Evanescent White Dot Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple evanescent white dot syndrome LEXMATCH MONDO:1040027 hypermobility spectrum disorder skos:exactMatch icd11.foundation:24232012 Ehlers-Danlos syndrome, hypermobile type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym benign joint hypermobility syndrome LEXMATCH +MONDO:1050000 sycosis barbae skos:exactMatch icd11.foundation:1245506993 Sycosis barbae semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sycosis barbae LEXMATCH MONDO:8000015 46,XY sex reversal 11 skos:exactMatch icd11.foundation:1581551380 Embryonic testicular regression syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym embryonic testicular regression syndrome LEXMATCH MONDO:8000015 46,XY sex reversal 11 skos:exactMatch icd11.foundation:1581551380 Embryonic testicular regression syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym testicular regression syndrome LEXMATCH MONDO:8000015 46,XY sex reversal 11 skos:exactMatch icd11.foundation:1581551380 Embryonic testicular regression syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vanishing testes syndrome LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_ncit.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_ncit.tsv index b91d25304..9e71cc0b0 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_ncit.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_ncit.tsv @@ -125,4 +125,6 @@ MONDO:0958300 round cell sarcoma with EWSR1-PATZ1 gene fusion skos:exactMatch NC MONDO:0958301 round cell sarcoma with FUS-NFATC2 gene fusion skos:exactMatch NCIT:C178462 Round Cell Sarcoma with FUS-NFATC2 Gene Fusion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label round cell sarcoma with fus-nfatc2 gene fusion LEXMATCH MONDO:0958302 TFEB-rearranged renal cell carcinoma skos:exactMatch NCIT:C37210 TFEB-Rearranged Renal Cell Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tfeb-rearranged renal cell carcinoma LEXMATCH MONDO:0958303 childhood renal cell carcinoma with MiT translocations skos:exactMatch NCIT:C189242 Childhood Renal Cell Carcinoma with MiT Translocations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label childhood renal cell carcinoma with mit translocations LEXMATCH +MONDO:0971056 ocular surface squamous neoplasia skos:exactMatch NCIT:C176043 Ocular Surface Squamous Neoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ocular surface squamous neoplasia LEXMATCH +MONDO:0971143 pleural mesothelioma in situ skos:exactMatch NCIT:C183134 Pleural Mesothelioma In Situ semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pleural mesothelioma in situ LEXMATCH MONDO:1040026 metastatic malignant neoplasm in the brain skos:exactMatch NCIT:C3813 Metastatic Malignant Neoplasm in the Brain semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metastatic malignant neoplasm in the brain 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 ee7ba0fa4..7e092deee 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omim.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omim.tsv @@ -19,7 +19,6 @@ MONDO:0008204 obsolete patella aplasia, coxa vara, and tarsal synostosis skos:ex MONDO:0008415 obsolete Scholte syndrome skos:exactMatch OMIM:181515 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0008548 obsolete theophylline Biotransformation skos:exactMatch OMIM:187650 theophylline biotransformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0008625 obsolete urate-binding globulin, decrease 1N skos:exactMatch OMIM:191530 urate-binding globulin, decrease 1n semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0009489 hereditary palmoplantar keratoderma, Gamborg-Nielsen type skos:exactMatch OMIM:244850 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0009535 obsolete lymphedema, congenital recessive skos:exactMatch OMIM:247440 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0009553 obsolete Plasmodium falciparum blood infection level skos:exactMatch OMIM:248310 plasmodium falciparum blood infection level semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0009654 obsolete mucopolysaccharidoses, unclassified types skos:exactMatch OMIM:252700 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS @@ -40,7 +39,6 @@ MONDO:0011111 obsolete horns in sheep skos:exactMatch OMIM:601563 semapv:Unspec MONDO:0011543 obsolete BRCA3 skos:exactMatch OMIM:605365 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0011554 obsolete deafness, nonsyndromic, modifier 1 skos:exactMatch OMIM:605429 deafness, autosomal recessive 26, modifier of semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0011809 obsolete mammographic density skos:exactMatch OMIM:607308 mammographic density semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0011893 autosomal dominant nonsyndromic hearing loss 52 skos:exactMatch OMIM:607683 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0011910 obsolete autosomal dominant limb-girdle muscular dystrophy type 1C skos:exactMatch OMIM:607801 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0012140 obsolete pulmonary function skos:exactMatch OMIM:608852 pulmonary function semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0012148 obsolete drug metabolism, poor, CYP2D6-related skos:exactMatch OMIM:608902 drug metabolism, poor, cyp2d6-related semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_orphanet.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_orphanet.tsv index 9d29cc989..8007fe9f1 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_orphanet.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_orphanet.tsv @@ -1,870 +1,867 @@ -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:0009902 cutaneous porphyria skos:exactMatch Orphanet:659681 Erythropoietic porphyria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym erythropoietic porphyria LEXMATCH -MONDO:0009902 cutaneous porphyria skos:exactMatch Orphanet:659681 Erythropoietic porphyria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label erythropoietic porphyria LEXMATCH -MONDO:0015076 obsolete rare parathyroid tumor skos:exactMatch Orphanet:100090 Rare parathyroid tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015081 obsolete neuroendocrine tumor with other location skos:exactMatch Orphanet:100101 Neuroendocrine tumor with other location semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015088 obsolete autosomal dominant pure spastic paraplegia skos:exactMatch Orphanet:100980 Autosomal dominant pure spastic paraplegia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015089 obsolete autosomal recessive complex spastic paraplegia skos:exactMatch Orphanet:100981 Autosomal recessive complex spastic paraplegia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015090 obsolete autosomal recessive pure spastic paraplegia skos:exactMatch Orphanet:100982 Autosomal recessive pure spastic paraplegia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015106 obsolete rare urogenital disease skos:exactMatch Orphanet:101433 Rare urogenital disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015107 obsolete rare genetic eye disease skos:exactMatch Orphanet:101435 Rare genetic eye disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015110 obsolete genetic cardiac rhythm disease skos:exactMatch Orphanet:101934 Genetic cardiac rhythm disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015111 obsolete gastroesophageal disease skos:exactMatch Orphanet:101936 Rare gastroesophageal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015112 obsolete rare pancreatic disease skos:exactMatch Orphanet:101937 Rare pancreatic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015113 obsolete rare vascular liver disease skos:exactMatch Orphanet:101938 Rare vascular liver disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015114 obsolete rare parenchymal liver disease skos:exactMatch Orphanet:101939 Rare parenchymal liver disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015115 obsolete rare genetic metabolic liver disease skos:exactMatch Orphanet:101940 Rare metabolic liver disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015116 obsolete rare biliary tract disease skos:exactMatch Orphanet:101941 Rare biliary tract disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015117 obsolete rare hepatic and biliary tract tumor skos:exactMatch Orphanet:101943 Rare hepatic and biliary tract tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015118 obsolete rare pulmonary disease skos:exactMatch Orphanet:101944 Rare pulmonary disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015119 obsolete bronchopulmonary tumor skos:exactMatch Orphanet:101945 Rare bronchopulmonary and pleural cavity tumors semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015121 obsolete rare eye tumor skos:exactMatch Orphanet:101950 Rare eye tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015123 obsolete rare inherited dyslipidemia skos:exactMatch Orphanet:101953 Rare dyslipidemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015124 obsolete rare adrenal disease skos:exactMatch Orphanet:101954 Rare adrenal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015125 obsolete rare thyroid disease skos:exactMatch Orphanet:101955 Rare thyroid disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015130 obsolete acquired chronic primary adrenal insufficiency skos:exactMatch Orphanet:101963 Acquired chronic primary adrenal insufficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015132 obsolete immunodeficiency predominantly affecting antibody production skos:exactMatch Orphanet:101977 Immunodeficiency predominantly affecting antibody production semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015133 obsolete quantitative and/or qualitative congenital phagocyte defect skos:exactMatch Orphanet:101985 Quantitative and/or qualitative congenital phagocyte defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015135 obsolete primary immunodeficiency due to a genetic defect in innate immunity skos:exactMatch Orphanet:101988 Primary immunodeficiency due to a defect in innate immunity semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015139 obsolete rare epilepsy skos:exactMatch Orphanet:101998 Rare epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015141 obsolete disorder of medulla oblongata skos:exactMatch Orphanet:102000 Medullar disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015143 obsolete rare movement disorder skos:exactMatch Orphanet:102003 Rare movement disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015144 obsolete brain inflammatory disease skos:exactMatch Orphanet:102005 Brain inflammatory disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015145 obsolete neurovascular malformation skos:exactMatch Orphanet:102006 Neurovascular malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015162 obsolete rare syndromic intellectual disability skos:exactMatch Orphanet:102369 Rare syndromic intellectual disability semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015180 obsolete intestinal disease due to fat malabsorption skos:exactMatch Orphanet:104005 Intestinal disease due to fat malabsorption semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015188 obsolete metabolic disorder with intestinal involvement skos:exactMatch Orphanet:104013 Metabolic disease with intestinal involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015207 obsolete non-syndromic esophageal malformation skos:exactMatch Orphanet:108959 Non-syndromic esophageal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015208 obsolete syndromic esophageal malformation skos:exactMatch Orphanet:108961 Syndromic esophageal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015209 obsolete non-syndromic gastroduodenal malformation skos:exactMatch Orphanet:108963 Non-syndromic gastroduodenal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015210 obsolete syndromic gastroduodenal malformation skos:exactMatch Orphanet:108965 Syndromic gastroduodenal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015214 obsolete syndromic visceral malformation skos:exactMatch Orphanet:108973 Syndromic visceral malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015215 obsolete non-syndromic diaphragmatic or abdominal wall malformation skos:exactMatch Orphanet:108977 Non-syndromic diaphragmatic or abdominal wall malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015216 obsolete syndromic diaphragmatic or abdominal wall malformation skos:exactMatch Orphanet:108979 Syndromic diaphragmatic or abdominal wall malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015219 obsolete non-syndromic central nervous system malformation skos:exactMatch Orphanet:108989 Non-syndromic central nervous system malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015221 obsolete non-syndromic respiratory or mediastinal malformation skos:exactMatch Orphanet:108993 Non-syndromic respiratory or mediastinal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015222 obsolete syndromic respiratory or mediastinal malformation skos:exactMatch Orphanet:108995 Syndromic respiratory or mediastinal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015223 obsolete rare anemia skos:exactMatch Orphanet:108997 Rare anemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015224 obsolete rare intoxication skos:exactMatch Orphanet:108999 Rare disorder due to toxic effects semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015227 obsolete non-syndromic limb malformation skos:exactMatch Orphanet:109011 Non-syndromic limb malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015245 obsolete rare intestinal disease skos:exactMatch Orphanet:117569 Rare intestinal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015305 obsolete rare endometriosis skos:exactMatch Orphanet:137820 Extrapelvic endometriosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015310 obsolete syndromic optic nerve hypoplasia skos:exactMatch Orphanet:137905 Syndromic optic nerve hypoplasia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015319 obsolete rare disease with Pierre Robin syndrome skos:exactMatch Orphanet:138044 Rare disease with Pierre Robin syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015323 obsolete teratogenic Pierre Robin syndrome skos:exactMatch Orphanet:138059 Teratogenic Pierre Robin syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015328 obsolete rare bone development disorder skos:exactMatch Orphanet:139012 Rare bone development disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015329 obsolete malformation syndrome with short stature skos:exactMatch Orphanet:139021 Malformation syndrome with short stature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015330 obsolete overgrowth/obesity syndrome skos:exactMatch Orphanet:139024 Overgrowth/obesity syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015331 obsolete malformation syndrome with skin/mucosae involvement skos:exactMatch Orphanet:139027 Rare developmental defect with skin/mucosae involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015332 obsolete rare developmental defect with connective tissue involvement skos:exactMatch Orphanet:139030 Rare developmental defect with connective tissue involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015334 obsolete branchial arch or oral-acral syndrome skos:exactMatch Orphanet:139036 Branchial arch or oral-acral syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015335 obsolete Mendelian syndromes with cleft lip/palate skos:exactMatch Orphanet:139039 Orofacial clefting syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015336 obsolete malformation syndrome with odontal and/or periodontal component skos:exactMatch Orphanet:139042 Malformation syndrome with odontal and/or periodontal component semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015359 obsolete autosomal dominant hereditary demyelinating motor and sensory neuropathy skos:exactMatch Orphanet:140453 Autosomal dominant hereditary demyelinating motor and sensory neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015360 obsolete autosomal dominant hereditary axonal motor and sensory neuropathy skos:exactMatch Orphanet:140456 Autosomal dominant hereditary axonal motor and sensory neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015361 obsolete autosomal recessive hereditary demyelinating motor and sensory neuropathy skos:exactMatch Orphanet:140459 Autosomal recessive hereditary demyelinating motor and sensory neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015365 obsolete autosomal dominant hereditary sensory and autonomic neuropathy skos:exactMatch Orphanet:140474 Autosomal dominant hereditary sensory and autonomic neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015366 obsolete autosomal recessive hereditary sensory and autonomic neuropathy skos:exactMatch Orphanet:140477 Autosomal recessive hereditary sensory and autonomic neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015368 obsolete neuro-ophthalmological disease skos:exactMatch Orphanet:140653 Neuro-ophthalmological disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015475 obsolete rare head and neck malformation skos:exactMatch Orphanet:155832 Rare head and neck malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015485 obsolete primary hereditary glaucoma skos:exactMatch Orphanet:156005 Primary early-onset glaucoma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015488 obsolete predominantly large-vessel vasculitis skos:exactMatch Orphanet:156140 Predominantly large-vessel vasculitis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015489 obsolete predominantly medium-vessel vasculitis skos:exactMatch Orphanet:156143 Predominantly medium-vessel vasculitis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015490 obsolete predominantly small-vessel vasculitis skos:exactMatch Orphanet:156146 Predominantly small-vessel vasculitis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015495 obsolete otomandibular dysplasia associated with monogenic syndromes skos:exactMatch Orphanet:156202 Otomandibular dysplasia associated with monogenic syndromes semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015499 obsolete paralytic facial malformation skos:exactMatch Orphanet:156224 Paralytic facial malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015501 obsolete syndrome or malformation associated with head and neck malformations skos:exactMatch Orphanet:156237 Syndrome or malformation associated with head and neck malformations semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015502 obsolete pinnae and external auditory canal anomaly skos:exactMatch Orphanet:156243 Pinnae and external auditory canal anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015504 obsolete larynx anomaly skos:exactMatch Orphanet:156249 Larynx anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015506 obsolete rare syndrome with cardiac malformations skos:exactMatch Orphanet:156532 Rare syndrome with cardiac malformations semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015507 obsolete rare genetic hepatic disease skos:exactMatch Orphanet:156601 Rare genetic hepatic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015508 obsolete hereditary parenchymatous liver disease skos:exactMatch Orphanet:156604 Genetic parenchymatous liver disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015509 obsolete hereditary biliary tract disease skos:exactMatch Orphanet:156607 Genetic biliary tract disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015510 obsolete rare genetic respiratory disease skos:exactMatch Orphanet:156610 Rare genetic respiratory disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015511 obsolete rare genetic urogenital disease skos:exactMatch Orphanet:156619 Rare genetic urogenital disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015512 obsolete genetic hypertension skos:exactMatch Orphanet:156629 Rare genetic cause of hypertension semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015513 obsolete rare genetic endocrine disease skos:exactMatch Orphanet:156638 Rare genetic endocrine disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015549 obsolete rare genetic hematologic disease skos:exactMatch Orphanet:158300 Rare genetic hematologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015572 obsolete cerebral malformation due to abnormal neuronal migration skos:exactMatch Orphanet:163209 Non-syndromic cerebral malformation due to abnormal neuronal migration semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015575 obsolete rare bacterial infectious disease skos:exactMatch Orphanet:163582 Rare bacterial infectious disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015576 obsolete rare viral disease skos:exactMatch Orphanet:163585 Rare viral disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015577 obsolete rare parasitic disease skos:exactMatch Orphanet:163588 Rare parasitic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015578 obsolete rare mycosis skos:exactMatch Orphanet:163591 Rare mycosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015582 obsolete rare disorder related with pregnancy, childbirth and puerperium skos:exactMatch Orphanet:163637 Rare disorder related with pregnancy, childbirth and puerperium semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015603 obsolete rare odontal or periodontal disorder skos:exactMatch Orphanet:164001 Rare odontal or periodontal disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015615 obsolete rare genetic gastroenterological disease skos:exactMatch Orphanet:165652 Rare genetic gastroenterological disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015616 obsolete rare genetic intestinal disease skos:exactMatch Orphanet:165655 Genetic intestinal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015617 obsolete hereditary gastro-esophageal disease skos:exactMatch Orphanet:165658 Genetic gastro-esophageal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015618 obsolete genetic pancreatic disease skos:exactMatch Orphanet:165661 Genetic pancreatic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015620 obsolete syndromic urogenital tract malformation skos:exactMatch Orphanet:165707 Syndromic urogenital tract malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015621 obsolete rare abdominal surgical disease skos:exactMatch Orphanet:165711 Rare abdominal surgical disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015651 obsolete neurocutaneous syndrome with epilepsy skos:exactMatch Orphanet:166466 Neurocutaneous syndrome with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015652 obsolete chromosomal anomaly with epilepsy as a major feature skos:exactMatch Orphanet:166469 Chromosomal anomaly with epilepsy as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015654 obsolete idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes skos:exactMatch Orphanet:166475 Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015655 obsolete cerebral malformation with epilepsy skos:exactMatch Orphanet:166478 Cerebral malformation with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015656 obsolete metabolic disease with epilepsy skos:exactMatch Orphanet:166481 Metabolic diseases with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015657 obsolete inflammatory and autoimmune disease with epilepsy skos:exactMatch Orphanet:166484 Inflammatory and autoimmune disease with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015658 obsolete cerebral diseases of vascular origin with epilepsy skos:exactMatch Orphanet:166487 Cerebral diseases of vascular origin with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015659 obsolete infectious disease with epilepsy skos:exactMatch Orphanet:166490 Infectious disease with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015662 obsolete hemorrhagic disorder due to an acquired coagulation factor defect skos:exactMatch Orphanet:166775 Rare hemorrhagic disorder due to an acquired coagulation factor defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015668 obsolete hereditary dentin defect skos:exactMatch Orphanet:167759 Hereditary dentin defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015669 obsolete rare disease with dentinogenesis imperfecta skos:exactMatch Orphanet:167762 Rare disease with dentinogenesis imperfecta semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015673 obsolete rare cardiac tumor skos:exactMatch Orphanet:168194 Rare cardiac tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015682 obsolete primary peritoneal tumor skos:exactMatch Orphanet:168803 Primary peritoneal tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015710 obsolete immune dysregulation disease with immunodeficiency skos:exactMatch Orphanet:169361 Immune dysregulation disease with immunodeficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015765 obsolete congenital myopathy with cores skos:exactMatch Orphanet:172976 Congenital myopathy with cores semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015777 obsolete adult hypothyroidism skos:exactMatch Orphanet:177101 Rare adult hypothyroidism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015778 obsolete syndromic hypothyroidism skos:exactMatch Orphanet:177107 Syndromic hypothyroidism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015789 obsolete non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations skos:exactMatch Orphanet:178025 Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015823 obsolete primary immunodeficiency due to a defect in adaptive immunity skos:exactMatch Orphanet:179006 Primary immunodeficiency due to a defect in adaptive immunity semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015846 obsolete syndromic uterovaginal malformation skos:exactMatch Orphanet:180148 Syndromic uterovaginal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015851 obsolete rare breast malformation skos:exactMatch Orphanet:180163 Rare breast malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015852 obsolete excess breast volume or number skos:exactMatch Orphanet:180170 Excess breast volume or number semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015853 obsolete deficient breast volume or number skos:exactMatch Orphanet:180173 Deficient breast volume or number semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015857 obsolete rare non-malformative gynecologic or obstetric disease skos:exactMatch Orphanet:180199 Rare non-malformative gynecologic or obstetric disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015858 obsolete rare non-malformative breast disease skos:exactMatch Orphanet:180202 Rare non-malformative breast disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015859 obsolete rare non-malformative uterovaginal or vulvovaginal disease skos:exactMatch Orphanet:180205 Rare non-malformative uterovaginal or vulvovaginal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015860 obsolete anomaly of puberty or/and menstrual cycle skos:exactMatch Orphanet:180208 Anomaly of puberty or/and menstrual cycle semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015861 obsolete rare uterine adnexal tumor skos:exactMatch Orphanet:180220 Rare uterine adnexal tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015868 obsolete rare breast tumor skos:exactMatch Orphanet:180250 Rare breast tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015870 obsolete rare malignant breast tumor skos:exactMatch Orphanet:180257 Rare malignant breast tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015875 obsolete rare non-malformative uterine adnexal disease skos:exactMatch Orphanet:180303 Rare non-malformative uterine adnexal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015876 obsolete rare vulvovaginal tumor skos:exactMatch Orphanet:180312 Rare vulvovaginal tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015877 obsolete malformative syndrome with dentinogenesis imperfecta skos:exactMatch Orphanet:180766 Malformative syndrome with dentinogenesis imperfecta semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015879 obsolete non-syndromic diaphragmatic or thoracic malformation skos:exactMatch Orphanet:180776 Non-syndromic diaphragmatic or thoracic malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015880 obsolete syndromic diaphragmatic or thoracic malformation skos:exactMatch Orphanet:180779 Syndromic diaphragmatic or thoracic malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015881 obsolete gastroesophageal tumor skos:exactMatch Orphanet:180821 Rare gastroesophageal tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015886 obsolete rare diabetes mellitus type 1 skos:exactMatch Orphanet:181371 Rare diabetes mellitus type 1 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015887 obsolete rare diabetes mellitus type 2 skos:exactMatch Orphanet:181376 Rare diabetes mellitus type 2 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015889 obsolete rare hypothalamic or pituitary disease skos:exactMatch Orphanet:181384 Rare hypothalamic or pituitary disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015890 obsolete rare disorder with congenital hypogonadotropic hypogonadism skos:exactMatch Orphanet:181387 Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015891 obsolete hypogonadotropic hypogonadism associated with other endocrinopathies skos:exactMatch Orphanet:181390 Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015893 obsolete rare hypothyroidism skos:exactMatch Orphanet:181396 Rare hypothyroidism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015894 obsolete rare hyperthyroidism skos:exactMatch Orphanet:181399 Rare hyperthyroidism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015896 obsolete rare hypoparathyroidism skos:exactMatch Orphanet:181405 Rare hypoparathyroidism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015897 obsolete rare hyperparathyroidism skos:exactMatch Orphanet:181408 Rare hyperparathyroidism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015899 obsolete rare primary hyperaldosteronism skos:exactMatch Orphanet:181415 Rare primary hyperaldosteronism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015901 obsolete rare inherited hyperlipidemia skos:exactMatch Orphanet:181422 Rare hyperlipidemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015906 obsolete rare disorder with hypergonadotropic hypogonadism skos:exactMatch Orphanet:181441 Rare disorder with hypergonadotropic hypogonadism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015910 obsolete rare constitutional hemolytic anemia skos:exactMatch Orphanet:182043 Rare constitutional hemolytic anemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015911 obsolete rare acquired hemolytic anemia skos:exactMatch Orphanet:182047 Rare acquired hemolytic anemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015913 obsolete rare thrombotic disease of hematologic origin skos:exactMatch Orphanet:182054 Rare thrombotic disease of hematologic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015915 obsolete cerebellar malformation skos:exactMatch Orphanet:182061 Cerebellar malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015916 obsolete rare neuroinflammatory or neuroimmunological disease skos:exactMatch Orphanet:182064 Rare neuroinflammatory or neuroimmunological disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015918 obsolete rare neurodegenerative disease skos:exactMatch Orphanet:182070 Rare neurodegenerative disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015921 obsolete ARX-related epileptic encephalopathy skos:exactMatch Orphanet:182079 ARX-related epileptic encephalopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015922 obsolete channelopathy with epilepsy skos:exactMatch Orphanet:182083 Channelopathy with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015930 obsolete respiratory malformation skos:exactMatch Orphanet:182111 Respiratory malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015931 obsolete rare urogenital tumor skos:exactMatch Orphanet:182114 Rare urogenital tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015940 obsolete rare rheumatologic disease skos:exactMatch Orphanet:182231 Rare rheumatologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015945 obsolete polymalformative genetic syndrome with increased risk of developing cancer skos:exactMatch Orphanet:183422 Polymalformative genetic syndrome with increased risk of developing cancer semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015948 obsolete rare genetic skin vascular disorder skos:exactMatch Orphanet:183478 Genetic skin vascular disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015949 obsolete rare genetic subcutaneous tissue disorder skos:exactMatch Orphanet:183484 Genetic subcutaneous tissue disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015950 obsolete inherited skin tumor skos:exactMatch Orphanet:183487 Genetic skin tumor or hamartoma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015953 obsolete genetic central nervous system and retinal vascular disease skos:exactMatch Orphanet:183503 Genetic central nervous system and retinal vascular disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015954 obsolete rare genetic headache disorder skos:exactMatch Orphanet:183509 Rare genetic headache semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015955 obsolete rare genetic epilepsy skos:exactMatch Orphanet:183512 Rare genetic epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015957 obsolete rare genetic movement disorder skos:exactMatch Orphanet:183521 Rare genetic movement disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015958 obsolete rare genetic bone disease skos:exactMatch Orphanet:183524 Rare genetic bone disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015959 obsolete inherited syndrome with bone tumors as a major feature skos:exactMatch Orphanet:183527 Genetic bone tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015960 obsolete rare genetic developmental defect during embryogenesis skos:exactMatch Orphanet:183530 Rare genetic developmental defect during embryogenesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015961 obsolete hereditary head and neck malformation skos:exactMatch Orphanet:183583 Genetic head and neck malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015963 obsolete inherited renal tumor skos:exactMatch Orphanet:183595 Genetic renal tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015966 obsolete hereditary eye tumor skos:exactMatch Orphanet:183619 Genetic eye tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015968 obsolete rare genetic hypothalamic or pituitary disease skos:exactMatch Orphanet:183628 Rare genetic hypothalamic or pituitary disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015969 obsolete rare genetic thyroid disease skos:exactMatch Orphanet:183631 Rare genetic thyroid disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015970 obsolete rare genetic parathyroid disease and phosphocalcic metabolism disorder skos:exactMatch Orphanet:183634 Rare genetic parathyroid disease and phosphocalcic metabolism disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015971 obsolete rare genetic adrenal disease skos:exactMatch Orphanet:183637 Rare genetic adrenal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015972 obsolete rare constitutional anemia skos:exactMatch Orphanet:183651 Rare constitutional anemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015980 obsolete rare genetic gynecological and obstetrical diseases skos:exactMatch Orphanet:183731 Rare genetic gynecological and obstetrical diseases semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015981 obsolete inherited gynecological tumor skos:exactMatch Orphanet:183734 Genetic gynecological tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015982 obsolete rare genetic intellectual disability skos:exactMatch Orphanet:183757 Rare genetic intellectual disability semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015984 obsolete rare genetic immune disease skos:exactMatch Orphanet:183770 Rare genetic immune disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016034 obsolete cleft lip with or without cleft palate skos:exactMatch Orphanet:1991 Cleft lip with or without cleft palate semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016054 obsolete cerebral malformation skos:exactMatch Orphanet:199633 Non-syndromic cerebral malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016055 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature skos:exactMatch Orphanet:199639 Syndrome with corpus callosum agenesis/dysgenesis as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016072 obsolete anomaly of puberty or/and menstrual cycle of genetic origin skos:exactMatch Orphanet:202940 Anomaly of puberty or/and menstrual cycle of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016104 obsolete infectious disease with peripheral neuropathy skos:exactMatch Orphanet:206613 Infectious disease with peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016109 obsolete autosomal recessive distal myopathy skos:exactMatch Orphanet:206653 Autosomal recessive distal myopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016110 obsolete non-dystrophic myopathy skos:exactMatch Orphanet:206656 Non-dystrophic myopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016114 obsolete bulbospinal muscular atrophy of childhood skos:exactMatch Orphanet:206704 Bulbospinal muscular atrophy of childhood semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016115 obsolete bulbospinal muscular atrophy of adulthood skos:exactMatch Orphanet:206707 Bulbospinal muscular atrophy of adult semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016116 obsolete generalized bulbospinal muscular atrophy skos:exactMatch Orphanet:206710 Generalized bulbospinal muscular atrophy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016118 obsolete muscular glycogenosis skos:exactMatch Orphanet:206959 Muscular glycogenosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016131 obsolete spinal muscular atrophy associated with central nervous system anomaly skos:exactMatch Orphanet:207012 Spinal muscular atrophy associated with central nervous system anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016132 obsolete rare hereditary disease with peripheral neuropathy skos:exactMatch Orphanet:207015 Rare hereditary disease with peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016133 obsolete rare hereditary metabolic disease with peripheral neuropathy skos:exactMatch Orphanet:207018 Rare hereditary metabolic disease with peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016134 obsolete rare hereditary systemic disease with peripheral neuropathy skos:exactMatch Orphanet:207021 Rare hereditary systemic disease with peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016135 obsolete rare hereditary neurologic disease with peripheral neuropathy skos:exactMatch Orphanet:207025 Rare hereditary neurologic disease with peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016137 obsolete acute and subacute inflammatory demyelinating polyneuropathy skos:exactMatch Orphanet:207038 Acute and subacute inflammatory demyelinating polyneuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016138 obsolete malignant lymphoma with peripheral neuropathy skos:exactMatch Orphanet:207046 Malignant lymphoma with peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016150 obsolete qualitative or quantitative defects of integrin alpha-7 skos:exactMatch Orphanet:207098 Qualitative or quantitative defects of integrin alpha-7 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016152 obsolete qualitative or quantitative defects of calpain skos:exactMatch Orphanet:207104 Qualitative or quantitative defects of calpain semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016154 obsolete qualitative or quantitative defects of myotubularin skos:exactMatch Orphanet:207110 Qualitative or quantitative defects of myotubularin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016157 obsolete qualitative or quantitative defects of fukutin skos:exactMatch Orphanet:207122 Qualitative or quantitative defects of fukutin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016169 obsolete chronic acquired demyelinating polyneuropathy skos:exactMatch Orphanet:208974 Chronic acquired demyelinating polyneuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016170 obsolete chronic polyradiculoneuropathy skos:exactMatch Orphanet:208978 Chronic polyradiculoneuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016172 obsolete acquired sensory ganglionopathy skos:exactMatch Orphanet:208984 Acquired sensory ganglionopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016177 obsolete systemic inflammatory disease associated with an acquired peripheral neuropathy skos:exactMatch Orphanet:209007 Systemic inflammatory disease associated with an acquired peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016178 obsolete peripheral neuropathy associated with monoclonal gammopathy skos:exactMatch Orphanet:209010 Peripheral neuropathy associated with monoclonal gammopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016179 obsolete acquired amyloid peripheral neuropathy skos:exactMatch Orphanet:209013 Acquired amyloid peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016180 obsolete hematological disease associated with an acquired peripheral neuropathy skos:exactMatch Orphanet:209016 Hematological disease associated with an acquired peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016181 obsolete solid tumor associated with an acquired peripheral neuropathy skos:exactMatch Orphanet:209019 Solid tumor associated with an acquired peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016182 obsolete qualitative or quantitative defects of protein O-mannose beta1, 2N-acetylglucosaminyltransferase skos:exactMatch Orphanet:209024 Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016183 obsolete qualitative or quantitative defects of protein glycosyltransferase-like skos:exactMatch Orphanet:209027 Qualitative or quantitative defects of protein glycosyltransferase-like semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016196 obsolete qualitative or quantitative defects of emerin skos:exactMatch Orphanet:209188 Qualitative or quantitative defects of emerin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016200 obsolete qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase skos:exactMatch Orphanet:209203 Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016221 obsolete temporomandibular joint anomaly skos:exactMatch Orphanet:210581 Temporomandibular joint anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016228 obsolete rare vascular tumor skos:exactMatch Orphanet:211237 Rare vascular tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016229 obsolete hereditary vascular anomaly skos:exactMatch Orphanet:211240 Genetic vascular anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016230 obsolete simple vascular malformation skos:exactMatch Orphanet:211243 Simple vascular malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016232 obsolete rare venous malformation skos:exactMatch Orphanet:211252 Rare venous malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016233 obsolete rare lymphatic system malformation skos:exactMatch Orphanet:211255 Rare lymphatic system anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016235 obsolete complex vascular malformation with associated anomalies skos:exactMatch Orphanet:211277 Complex vascular malformation with associated anomalies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016252 obsolete rare uterine cancer skos:exactMatch Orphanet:213564 Rare uterine cancer semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016253 obsolete rare cancer of corpus uteri skos:exactMatch Orphanet:213569 Rare cancer of corpus uteri semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016274 obsolete rare cancer of cervix uteri skos:exactMatch Orphanet:213761 Rare cancer of cervix uteri semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016320 obsolete rare hereditary thrombophilia skos:exactMatch Orphanet:217454 Rare hereditary thrombophilia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016343 obsolete unclassified cardiomyopathy skos:exactMatch Orphanet:217678 Unclassified cardiomyopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016347 obsolete rare cardiac rhythm disease skos:exactMatch Orphanet:218436 Rare cardiac rhythm disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016348 obsolete non-genetic cardiac rhythm disease skos:exactMatch Orphanet:218439 Non-genetic cardiac rhythm disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016375 obsolete acquired peripheral movement disorder skos:exactMatch Orphanet:221114 Acquired peripheral movement disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016397 obsolete lysosomal disease with epilepsy skos:exactMatch Orphanet:225681 Lysosomal disease with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016398 obsolete peroxisomal disease with epilepsy skos:exactMatch Orphanet:225686 Peroxisomal disease with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016399 obsolete amino acid or protein metabolism disease with epilepsy skos:exactMatch Orphanet:225689 Amino acid or protein metabolism disease with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016400 obsolete metal transport or utilization disorder with epilepsy skos:exactMatch Orphanet:225692 Metal transport or utilization disorder with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016401 obsolete energy metabolism disorder with epilepsy skos:exactMatch Orphanet:225696 Energy metabolism disorder with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016402 obsolete mitochondrial disease with epilepsy skos:exactMatch Orphanet:225700 Mitochondrial disease with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016403 obsolete mitochondrial disease with peripheral neuropathy skos:exactMatch Orphanet:225703 Mitochondrial disease with peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016404 obsolete metabolic neurotransmission anomaly with epilepsy skos:exactMatch Orphanet:225707 Metabolic neurotransmission anomaly with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016405 obsolete sterol metabolism disorder with epilepsy skos:exactMatch Orphanet:225710 Sterol metabolism disorder with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016406 obsolete other metabolic disease with epilepsy skos:exactMatch Orphanet:225713 Other metabolic disease with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016409 obsolete primary congenital hypothyroidism skos:exactMatch Orphanet:226295 Primary congenital hypothyroidism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016428 obsolete multiple sclerosis variant skos:exactMatch Orphanet:228145 Multiple sclerosis variant semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016434 obsolete acquired dermis elastic tissue disorder skos:exactMatch Orphanet:228218 Acquired dermis elastic tissue disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016435 obsolete acquired dermis elastic tissue disorder with decreased elastic tissue skos:exactMatch Orphanet:228221 Acquired dermis elastic tissue disorder with decreased elastic tissue semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016436 obsolete acquired dermis elastic tissue disorder with increased elastic tissue skos:exactMatch Orphanet:228224 Acquired dermis elastic tissue disorder with increased elastic tissue semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016493 obsolete variant of Guillain-Barre syndrome skos:exactMatch Orphanet:231413 Variant of Guillain-Barré syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016494 obsolete regional variant of Guillain-Barre syndrome skos:exactMatch Orphanet:231416 Regional variant of Guillain-Barré syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016495 obsolete functional variant of Guillain-Barre syndrome skos:exactMatch Orphanet:231419 Functional variant of Guillain-Barré syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016507 obsolete rare surgically correctable form of primary aldosteronism skos:exactMatch Orphanet:231637 Rare surgically correctable form of primary aldosteronism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016508 obsolete rare non surgically correctable form of primary aldosteronism skos:exactMatch Orphanet:231641 Rare non surgically correctable form of primary aldosteronism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016517 obsolete rare genetic vascular disease skos:exactMatch Orphanet:233655 Rare genetic vascular disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016518 obsolete isolated punctate palmoplantar keratoderma skos:exactMatch Orphanet:2338 Isolated punctate palmoplantar keratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016524 obsolete congenital vascular bone syndrome skos:exactMatch Orphanet:235832 Congenital vascular bone syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016565 obsolete syndromic genetic obesity skos:exactMatch Orphanet:240371 Syndromic obesity semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016578 obsolete mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies skos:exactMatch Orphanet:2443 Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016579 obsolete dominant hypophosphatemia with nephrolithiasis or osteoporosis skos:exactMatch Orphanet:244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016623 obsolete rare deficiency anemia skos:exactMatch Orphanet:248293 Rare deficiency anemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016627 obsolete rare hemorrhagic disorder skos:exactMatch Orphanet:248308 Rare hemorrhagic disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016628 obsolete hemorrhagic disorder due to a coagulation factors defect skos:exactMatch Orphanet:248315 Rare hemorrhagic disorder due to a coagulation factors defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016629 obsolete hemorrhagic disorder due to a platelet anomaly skos:exactMatch Orphanet:248326 Rare hemorrhagic disorder due to a platelet anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016631 obsolete hemorrhagic disorder due to an acquired platelet anomaly skos:exactMatch Orphanet:248347 Rare hemorrhagic disorder due to an acquired platelet anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016632 obsolete thrombotic disorder due to a coagulation factors defect skos:exactMatch Orphanet:248358 Rare thrombotic disorder due to a coagulation factors defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016633 obsolete thrombotic disorder due to a constitutional coagulation factors defect skos:exactMatch Orphanet:248361 Rare thrombotic disorder due to a constitutional coagulation factors defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016634 obsolete thrombotic disorder due to an acquired coagulation factors defect skos:exactMatch Orphanet:248365 Rare thrombotic disorder due to an acquired coagulation factors defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016635 obsolete thrombotic disorder due to a platelet anomaly skos:exactMatch Orphanet:248368 Rare thrombotic disorder due to a platelet anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016636 obsolete thrombotic disorder due to a constitutional platelet anomaly skos:exactMatch Orphanet:248401 Rare thrombotic disorder due to a constitutional platelet anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016637 obsolete thrombotic disorder due to an acquired platelet anomaly skos:exactMatch Orphanet:248404 Rare thrombotic disorder due to an acquired platelet anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016645 obsolete rare neoplastic disease skos:exactMatch Orphanet:250908 Rare neoplastic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016678 obsolete maternal disease-related embryofetopathy skos:exactMatch Orphanet:251535 Maternal disease-related embryofetopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016679 obsolete rare tumor of neuroepithelial tissue skos:exactMatch Orphanet:251558 Rare tumor of neuroepithelial tissue semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016701 obsolete oligoastrocytic tumor skos:exactMatch Orphanet:251651 Oligoastrocytic tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016704 obsolete glial tumor of neuroepithelial tissue with unknown origin skos:exactMatch Orphanet:251668 Glial tumor of neuroepithelial tissue with unknown origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016708 obsolete embryonal tumor of neuroepithelial tissue skos:exactMatch Orphanet:251852 Embryonal tumor of neuroepithelial tissue semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016721 obsolete pineal tumor of neuroepithelial tissue skos:exactMatch Orphanet:251905 Pineal tumor of neuroepithelial tissue semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016726 obsolete neuronal tumor skos:exactMatch Orphanet:251924 Neuronal tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016744 obsolete primary melanocytic tumor of central nervous system skos:exactMatch Orphanet:252028 Primary melanocytic tumor of central nervous system semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016756 obsolete inherited nervous system cancer-predisposing syndrome skos:exactMatch Orphanet:252190 Inherited nervous system cancer-predisposing syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016767 obsolete cutaneous lichen planus skos:exactMatch Orphanet:254370 Rare cutaneous lichen planus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016768 obsolete rare mucosal lichen planus skos:exactMatch Orphanet:254373 Rare mucosal lichen planus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016788 obsolete genetic hyperferritinemia without iron overload skos:exactMatch Orphanet:254704 Genetic hyperferritinemia without iron overload semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016791 obsolete mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies skos:exactMatch Orphanet:254758 Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016792 obsolete mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA skos:exactMatch Orphanet:254767 Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016793 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA skos:exactMatch Orphanet:254776 Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016794 obsolete maternally-inherited mitochondrial myopathy skos:exactMatch Orphanet:254788 Mitochondrial DNA-related mitochondrial myopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016799 obsolete mitochondrial oxidative phosphorylation disorder with no known mechanism skos:exactMatch Orphanet:254822 Mitochondrial oxidative phosphorylation disorder with no known mechanism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016803 obsolete unspecified inborn mitochondrial disorder skos:exactMatch Orphanet:254837 Unspecified mitochondrial disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016805 obsolete isolated oxidative phosphorylation complex disorder skos:exactMatch Orphanet:254846 Isolated oxidative phosphorylation complex disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016998 obsolete complex chromosomal rearrangement skos:exactMatch Orphanet:263708 Complex chromosomal rearrangement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016999 obsolete X chromosome number anomaly skos:exactMatch Orphanet:263714 X chromosome number anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017000 obsolete X chromosome number anomaly with female phenotype skos:exactMatch Orphanet:263717 X chromosome number anomaly with female phenotype semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017001 obsolete X chromosome number anomaly with male phenotype skos:exactMatch Orphanet:263720 X chromosome number anomaly with male phenotype semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017002 obsolete polysomy of X chromosome skos:exactMatch Orphanet:263723 Polysomy of X chromosome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017005 obsolete Y chromosome number anomaly skos:exactMatch Orphanet:263746 Y chromosome number anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017006 obsolete X and Y chromosomal anomaly skos:exactMatch Orphanet:263749 X and Y chromosomal anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017011 obsolete uniparental disomy of chromosome X skos:exactMatch Orphanet:263793 Uniparental disomy of chromosome X semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017085 obsolete malformation of the neurenteric canal, spinal cord and column skos:exactMatch Orphanet:268843 Malformation of the neurenteric canal, spinal cord and column semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017090 obsolete midline cerebral malformation skos:exactMatch Orphanet:268926 Midline cerebral malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017104 obsolete central nervous system cystic malformation skos:exactMatch Orphanet:269194 Central nervous system cystic malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017114 obsolete global cerebellar malformation skos:exactMatch Orphanet:269224 Global cerebellar malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017118 obsolete syndrome with a cerebellar malformation as major feature skos:exactMatch Orphanet:269523 Syndrome with a cerebellar malformation as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017121 obsolete syndrome with a Dandy-Walker malformation as major feature skos:exactMatch Orphanet:269546 Syndrome with a Dandy-Walker malformation as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017122 obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature skos:exactMatch Orphanet:269573 Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017127 obsolete inherited soft tissue tumor skos:exactMatch Orphanet:271832 Genetic soft tissue tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017128 obsolete inherited digestive tract tumor skos:exactMatch Orphanet:271835 Genetic digestive tract tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017129 obsolete inherited cardiac tumor skos:exactMatch Orphanet:271841 Genetic cardiac tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017130 obsolete genetic urogenital tumor skos:exactMatch Orphanet:271844 Genetic urogenital tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017131 obsolete hereditary cardiac anomaly skos:exactMatch Orphanet:271853 Genetic cardiac anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017141 obsolete hemorrhagic disorder due to a constitutional thrombocytopenia skos:exactMatch Orphanet:275729 Rare hemorrhagic disorder due to a constitutional thrombocytopenia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017142 obsolete hemorrhagic disorder due to a qualitative platelet defect skos:exactMatch Orphanet:275736 Rare hemorrhagic disorder due to a qualitative platelet defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017143 obsolete genetic infertility skos:exactMatch Orphanet:275742 Genetic infertility semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017158 obsolete pulmonary hypertension with unclear multifactorial mechanism skos:exactMatch Orphanet:275844 Pulmonary hypertension with unclear multifactorial mechanism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017159 obsolete syndrome with pulmonary hypertension as a major feature skos:exactMatch Orphanet:275853 Syndrome with pulmonary hypertension as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017166 obsolete rare tumor of salivary glands skos:exactMatch Orphanet:276142 Rare tumor of salivary glands semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017234 obsolete inherited prion disease skos:exactMatch Orphanet:280400 Inherited human prion disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017259 obsolete systemic diseases with anterior uveitis skos:exactMatch Orphanet:280926 Systemic diseases with anterior uveitis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017260 obsolete systemic diseases with posterior uveitis skos:exactMatch Orphanet:280930 Systemic diseases with posterior uveitis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017261 obsolete systemic diseases with panuveitis skos:exactMatch Orphanet:280933 Systemic diseases with panuveitis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017262 obsolete inherited non-syndromic ichthyosis skos:exactMatch Orphanet:281082 Inherited non-syndromic ichthyosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017270 obsolete autosomal ichthyosis syndrome skos:exactMatch Orphanet:281217 Autosomal ichthyosis syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017271 obsolete autosomal ichthyosis syndrome with prominent hair abnormalities skos:exactMatch Orphanet:281222 Autosomal ichthyosis syndrome with prominent hair abnormalities semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017272 obsolete autosomal ichthyosis syndrome with prominent neurologics signs skos:exactMatch Orphanet:281238 Autosomal ichthyosis syndrome with prominent neurologic signs semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017273 obsolete autosomal ichthyosis syndrome with fatal disease course skos:exactMatch Orphanet:281241 Autosomal ichthyosis syndrome with fatal disease course semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017302 obsolete qualitative or quantitative defects of troponin skos:exactMatch Orphanet:284786 Qualitative or quantitative defects of troponin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017311 obsolete rare disease with thoracic aortic aneurysm and aortic dissection skos:exactMatch Orphanet:285014 Rare disease with thoracic aortic aneurysm and aortic dissection semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017368 obsolete systemic disease with skin involvement skos:exactMatch Orphanet:290836 Systemic disease with skin involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017369 obsolete autoinflammatory syndrome with immune deficiency skos:exactMatch Orphanet:290839 Autoinflammatory syndrome with immune deficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017370 obsolete autoinflammatory syndrome with skin involvement skos:exactMatch Orphanet:290842 Autoinflammatory syndrome with skin involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017371 obsolete rare head and neck tumor skos:exactMatch Orphanet:290849 Rare head and neck tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017390 obsolete methylmalonic acidemia without homocystinuria skos:exactMatch Orphanet:293355 Methylmalonic acidemia without homocystinuria semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017397 obsolete constitutional dyserythropoietic anemia skos:exactMatch Orphanet:293830 Constitutional dyserythropoietic anemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017414 obsolete rare nevus skos:exactMatch Orphanet:294057 Rare nevus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017420 obsolete intercalary limb defects skos:exactMatch Orphanet:294927 Non-syndromic intercalary limb defects semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017429 obsolete joint formation defects skos:exactMatch Orphanet:294949 Non-syndromic joint formation defects semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017431 obsolete non-syndromic limb overgrowth skos:exactMatch Orphanet:294953 Non-syndromic limb overgrowth semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017432 obsolete syndrome with limb reduction defects skos:exactMatch Orphanet:294955 Syndrome with limb reduction defects semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017633 obsolete rare intoxication due to medical products skos:exactMatch Orphanet:306640 Rare intoxication due to medical products semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017635 obsolete parkinsonian syndrome due to neurodegenerative disease skos:exactMatch Orphanet:306666 Rare parkinsonian syndrome due to neurodegenerative disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017637 obsolete rare parkinsonian syndrome due to intoxication skos:exactMatch Orphanet:306679 Rare parkinsonian syndrome due to intoxication semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017641 obsolete miscellaneous movement disorder due to neurodegenerative disease skos:exactMatch Orphanet:306695 Miscellaneous movement disorder due to neurodegenerative disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017643 obsolete frontotemporal neurodegeneration with movement disorder skos:exactMatch Orphanet:306708 Frontotemporal neurodegeneration with movement disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017644 obsolete rare tremor disorder skos:exactMatch Orphanet:306712 Rare tremor disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017645 obsolete rare choreic movement disorder skos:exactMatch Orphanet:306715 Rare choreic movement disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017646 obsolete neurodegenerative disease with chorea skos:exactMatch Orphanet:306719 Neurodegenerative disease with chorea semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017647 obsolete postinfectious autoimmune disease with chorea skos:exactMatch Orphanet:306727 Postinfectious autoimmune disease with chorea semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017650 obsolete rare myoclonus skos:exactMatch Orphanet:306747 Rare myoclonus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017651 obsolete primary myoclonus skos:exactMatch Orphanet:306750 Primary myoclonus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017652 obsolete rare disease with myoclonus as a major feature skos:exactMatch Orphanet:306753 Rare disease with myoclonus as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017653 obsolete epilepsy and/or ataxia with myoclonus as major feature skos:exactMatch Orphanet:306756 Epilepsy and/or ataxia with myoclonus as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017654 obsolete non progressive epilepsy and/or ataxia with myoclonus as a major feature skos:exactMatch Orphanet:306759 Non progressive epilepsy and/or ataxia with myoclonus as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017656 obsolete motor stereotypies skos:exactMatch Orphanet:306765 Motor stereotypies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017657 obsolete rare paroxysmal movement disorder skos:exactMatch Orphanet:306768 Rare paroxysmal movement disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017660 obsolete rare genetic parkinsonian disorder skos:exactMatch Orphanet:307052 Rare genetic parkinsonian disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017661 obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease skos:exactMatch Orphanet:307055 Rare parkinsonian syndrome due to genetic neurodegenerative disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017662 obsolete miscellaneous movement disorder due to genetic neurodegenerative disease skos:exactMatch Orphanet:307058 Miscellaneous movement disorder due to genetic neurodegenerative disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017663 obsolete inherited tremor disorder skos:exactMatch Orphanet:307061 Rare genetic tremor disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017663 obsolete inherited tremor disorder skos:exactMatch Orphanet:307064 Rare genetic myoclonus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017665 obsolete rare genetic disease with myoclonus as a major feature skos:exactMatch Orphanet:307067 Rare genetic disease with myoclonus as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017667 obsolete isolated diffuse palmoplantar keratoderma skos:exactMatch Orphanet:307148 Isolated diffuse palmoplantar keratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017669 obsolete disease with diffuse palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:307711 Disease with diffuse palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017670 obsolete autosomal dominant diffuse mutilating palmoplantar keratoderma skos:exactMatch Orphanet:307773 Autosomal dominant diffuse mutilating palmoplantar keratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017671 obsolete autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:307804 Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017673 obsolete isolated focal palmoplantar keratoderma skos:exactMatch Orphanet:307846 Isolated focal palmoplantar keratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017674 obsolete disease with focal palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:307871 Disease with focal palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017678 obsolete obsolete disease with punctate palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:308023 Disease with punctate palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017679 obsolete obsolete autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:308031 Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017680 obsolete autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:308041 Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017710 obsolete congenital systemic veins anomaly skos:exactMatch Orphanet:3091 Congenital systemic veins anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017717 obsolete metabolic disease due to other fatty acid oxidation disorder skos:exactMatch Orphanet:309133 Metabolic disease due to other fatty acid oxidation disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017718 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes skos:exactMatch Orphanet:309136 Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017742 obsolete disorder of O-xylosylglycan synthesis skos:exactMatch Orphanet:309450 Disorder of O-xylosylglycan synthesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017743 obsolete disorder of O-N-acetylgalactosaminylglycan synthesis skos:exactMatch Orphanet:309458 Disorder of O-N-acetylgalactosaminylglycan synthesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017744 obsolete disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis skos:exactMatch Orphanet:309463 Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017745 obsolete disorder of O-mannosylglycan synthesis skos:exactMatch Orphanet:309469 Disorder of O-mannosylglycan synthesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017760 obsolete disorder of other vitamins and cofactors metabolism and transport skos:exactMatch Orphanet:309833 Disorder of other vitamins and cofactors metabolism and transport semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017797 obsolete rare odontologic tumor skos:exactMatch Orphanet:314425 Rare odontogenic tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017820 obsolete obsolete disease with Cushing syndrome as a major feature skos:exactMatch Orphanet:314749 Rare disease with adrenal Cushing syndrome as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017841 obsolete autoimmune disease with skin involvement skos:exactMatch Orphanet:315350 Autoimmune disease with skin involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017891 obsolete inherited renal cancer-predisposing syndrome skos:exactMatch Orphanet:319328 Inherited renal cancer-predisposing syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017897 obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency skos:exactMatch Orphanet:319535 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017898 obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency skos:exactMatch Orphanet:319539 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017899 obsolete autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency skos:exactMatch Orphanet:319543 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017912 obsolete X-linked pure spastic paraplegia skos:exactMatch Orphanet:320332 X-linked pure spastic paraplegia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017914 obsolete pure or complex autosomal dominant spastic paraplegia skos:exactMatch Orphanet:320342 Pure or complex autosomal dominant spastic paraplegia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017915 obsolete pure or complex autosomal recessive spastic paraplegia skos:exactMatch Orphanet:320346 Pure or complex autosomal recessive spastic paraplegia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017916 obsolete pure or complex X-linked spastic paraplegia skos:exactMatch Orphanet:320350 Pure or complex X-linked spastic paraplegia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017954 obsolete pyogenic autoinflammatory syndrome skos:exactMatch Orphanet:324927 Pyogenic autoinflammatory syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017955 obsolete granulomatous autoinflammatory syndrome skos:exactMatch Orphanet:324930 Granulomatous autoinflammatory syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017956 obsolete mixed autoinflammatory and autoimmune syndrome skos:exactMatch Orphanet:324933 Mixed autoinflammatory and autoimmune syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017957 obsolete unclassified autoinflammatory syndrome skos:exactMatch Orphanet:324936 Unclassified autoinflammatory syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017961 obsolete 46,XX disorder of gonadal development skos:exactMatch Orphanet:325055 46,XX disorder of gonadal development semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017962 obsolete 46,XX disorder of sex development induced by fetoplacental androgens excess skos:exactMatch Orphanet:325061 46,XX difference of sex development induced by fetoplacental androgens excess semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017963 obsolete 46,XX disorder of sex development induced by endogenous maternal-derived androgen skos:exactMatch Orphanet:325093 46,XX difference of sex development induced by endogenous maternal-derived androgen semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017964 obsolete 46,XX disorder of sex development induced by exogenous maternal-derived androgen skos:exactMatch Orphanet:325099 46,XX difference of sex development induced by exogenous maternal-derived androgen semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017965 obsolete syndrome with 46,XX disorder of sex development skos:exactMatch Orphanet:325109 Syndrome with 46,XX difference of sex development semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017966 obsolete 46,XY disorder of gonadal development skos:exactMatch Orphanet:325118 46,XY disorder of gonadal development semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017969 obsolete 46,XY disorder of sex development of endocrine origin skos:exactMatch Orphanet:325351 46,XY difference of sex development of endocrine origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017976 obsolete disorder of sex development of gynecological interest skos:exactMatch Orphanet:325620 Difference of sex development of gynecological interest semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017977 obsolete 46,XY disorder of sex development of gynecological interest skos:exactMatch Orphanet:325632 46,XY difference of sex development of gynecological interest semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017978 obsolete syndrome with disorder of sex development of gynecological interest skos:exactMatch Orphanet:325638 Syndrome with difference of sex development of gynecological interest semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018033 obsolete other immunodeficiency syndromes due to defects in innate immunity skos:exactMatch Orphanet:331193 Other immunodeficiency syndromes due to defects in innate immunity semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018035 obsolete syndrome with combined immunodeficiency skos:exactMatch Orphanet:331217 Syndrome with combined immunodeficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018036 obsolete immunodeficiency due to absence of thymus skos:exactMatch Orphanet:331220 Syndome with combined immunodeficiency due to thymic defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018038 obsolete immunodeficiency with isotype or light chain deficiencies with normal number of B-cells skos:exactMatch Orphanet:331232 Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018041 obsolete other immunodeficiency syndrome with predominantly antibody defects skos:exactMatch Orphanet:331244 Other immunodeficiency syndrome with predominantly antibody defects semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018118 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement skos:exactMatch Orphanet:352306 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018119 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement skos:exactMatch Orphanet:352309 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018120 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement skos:exactMatch Orphanet:352312 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018157 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis skos:exactMatch Orphanet:35696 Mitochondrial disorder due to a defect in mitochondrial protein synthesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018185 obsolete congenital anomaly of the great veins skos:exactMatch Orphanet:363189 Congenital anomaly of the great veins semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018187 obsolete hereditary syndromic Pierre Robin syndrome skos:exactMatch Orphanet:363294 Genetic syndromic Pierre Robin syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018188 obsolete hereditary intestinal polyposis skos:exactMatch Orphanet:363314 Genetic intestinal polyposis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018191 obsolete tumor of testis and paratestis skos:exactMatch Orphanet:363472 Tumor of testis and paratestis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018200 obsolete acute encephalopathy with inflammation-mediated status epilepticus skos:exactMatch Orphanet:363567 Acute encephalopathy with inflammation-mediated status epilepticus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018231 obsolete primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments skos:exactMatch Orphanet:364531 Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018232 obsolete primary bone dysplasia with micromelia skos:exactMatch Orphanet:364536 Primary bone dysplasia with micromelia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018235 obsolete dysostosis with limb anomaly as a major feature skos:exactMatch Orphanet:364568 Dysostosis with limb anomaly as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018236 obsolete dysostosis with limb and face anomalies as a major feature skos:exactMatch Orphanet:364571 Dysostosis with limb and face anomalies as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018246 obsolete homozygous 2p21 microdeletion syndrome skos:exactMatch Orphanet:369886 Homozygous 2p21 microdeletion syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018262 obsolete fetal anticonvulsant syndrome skos:exactMatch Orphanet:370068 Fetal anticonvulsant syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018265 obsolete rare disorder with dystonia and other neurologic or systemic manifestation skos:exactMatch Orphanet:370106 Rare disorder with dystonia and other neurologic or systemic manifestation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018283 obsolete primary qualitative or quantitative defects of alpha-dystroglycan skos:exactMatch Orphanet:371040 Primary qualitative or quantitative defects of alpha-dystroglycan semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018284 obsolete congenital disorder of glycosylation with neurological involvement skos:exactMatch Orphanet:371047 Congenital disorder of glycosylation with neurological involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018287 obsolete congenital disorder of glycosylation with epilepsy as a major feature skos:exactMatch Orphanet:371071 Congenital disorder of glycosylation with epilepsy as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018288 obsolete congenital disorder of glycosylation with hepatic involvement skos:exactMatch Orphanet:371157 Congenital disorder of glycosylation with hepatic involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018290 obsolete congenital disorder of glycosylation with cardiac malformation as a major feature skos:exactMatch Orphanet:371183 Congenital disorder of glycosylation with cardiac malformation as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018291 obsolete congenital disorder of glycosylation with intestinal involvement skos:exactMatch Orphanet:371188 Congenital disorder of glycosylation with intestinal involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018292 obsolete congenital disorder of glycosylation-related bone disorder skos:exactMatch Orphanet:371195 Congenital disorder of glycosylation-related bone disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018293 obsolete congenital disorder of glycosylation with skin involvement skos:exactMatch Orphanet:371200 Congenital disorder of glycosylation with skin involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018294 obsolete congenital disorder of glycosylation with nephropathy as a major feature skos:exactMatch Orphanet:371207 Congenital disorder of glycosylation with nephropathy as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018295 obsolete congenital disorder of glycosylation with deafness as a major feature skos:exactMatch Orphanet:371212 Congenital disorder of glycosylation with deafness as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018296 obsolete congenital disorder of glycosylation with developmental anomaly skos:exactMatch Orphanet:371235 Congenital disorder of glycosylation with developmental anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018299 obsolete sphingolipidosis with epilepsy skos:exactMatch Orphanet:371442 Sphingolipidosis with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018318 obsolete disorder of asparagine metabolism skos:exactMatch Orphanet:391381 Disorder of asparagine metabolism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018329 obsolete persistent combined dystonia skos:exactMatch Orphanet:391711 Persistent combined dystonia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018377 obsolete rare hereditary disease with avascular necrosis skos:exactMatch Orphanet:399185 Rare hereditary disease with avascular necrosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018384 obsolete avascular necrosis of genetic origin skos:exactMatch Orphanet:399388 Avascular necrosis of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018385 obsolete osteochondrosis of genetic origin skos:exactMatch Orphanet:399391 Osteochondrosis of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018386 obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder skos:exactMatch Orphanet:399572 Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018387 obsolete rare male infertility due to adrenal disorder skos:exactMatch Orphanet:399584 Rare male infertility due to adrenal disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018388 obsolete rare male infertility due to testicular endocrine disorder skos:exactMatch Orphanet:399685 Rare male infertility due to testicular endocrine disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018389 obsolete male infertility due to gonadal dysgenesis or sperm disorder skos:exactMatch Orphanet:399764 Male infertility due to gonadal dysgenesis or sperm disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018390 obsolete male infertility due to sperm disorder skos:exactMatch Orphanet:399771 Male infertility due to sperm disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018391 obsolete male infertility with spermatogenesis disorder skos:exactMatch Orphanet:399775 Male infertility with spermatogenesis disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018392 obsolete male infertility with spermatogenesis disorder due to single gene mutation skos:exactMatch Orphanet:399786 Male infertility with spermatogenesis disorder due to single gene mutation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018395 obsolete male infertility due to sperm motility disorder skos:exactMatch Orphanet:399813 Male infertility due to sperm motility disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018396 obsolete rare male fertility disorder with obstructive azoospermia skos:exactMatch Orphanet:399824 Rare disorder with obstructive azoospermia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018397 obsolete female infertility due to hypothalamic-pituitary-gonadal axis disorder skos:exactMatch Orphanet:399831 Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018398 obsolete female infertility due to a congenital hypogonadotropic hypogonadism skos:exactMatch Orphanet:399839 Rare female infertility due to a congenital hypogonadotropic hypogonadism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018400 obsolete rare female infertility due to an adrenal disorder skos:exactMatch Orphanet:399849 Rare female infertility due to an adrenal disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018401 obsolete female infertility due to an anomaly of ovarian function skos:exactMatch Orphanet:399853 Rare female infertility due to an anomaly of ovarian function semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018402 obsolete female infertility due to gonadal dysgenesis skos:exactMatch Orphanet:399877 Rare female infertility due to gonadal dysgenesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018403 obsolete female infertility due to an implantation defect skos:exactMatch Orphanet:399882 Rare female infertility due to an implantation defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018404 obsolete rare genetic male infertility skos:exactMatch Orphanet:399980 Rare genetic male infertility semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018405 obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin skos:exactMatch Orphanet:399983 Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018406 obsolete rare male infertility due to adrenal disorder of genetic origin skos:exactMatch Orphanet:399994 Rare male infertility due to adrenal disorder of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018407 obsolete male infertility due to obstructive azoospermia of genetic origin skos:exactMatch Orphanet:399998 Male infertility due to obstructive azoospermia of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018409 obsolete rare genetic disorder with obstructive azoospermia skos:exactMatch Orphanet:400003 Rare genetic disorder with obstructive azoospermia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018410 obsolete rare genetic female infertility skos:exactMatch Orphanet:400008 Rare genetic female infertility semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018411 obsolete rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin skos:exactMatch Orphanet:400011 Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018412 obsolete rare female infertility due to adrenal disorder of genetic origin skos:exactMatch Orphanet:400018 Rare female infertility due to adrenal disorder of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018413 obsolete female infertility due to an anomaly of ovarian function of genetic origin skos:exactMatch Orphanet:400022 Rare female infertility due to an anomaly of ovarian function of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018414 obsolete female infertility due to an implantation defect of genetic origin skos:exactMatch Orphanet:400025 Female infertility due to an implantation defect of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018444 obsolete female infertility due to fertilization defect skos:exactMatch Orphanet:404469 Rare female infertility due to oocyte maturation defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018451 obsolete X-linked distal hereditary motor neuropathy skos:exactMatch Orphanet:404538 X-linked distal hereditary motor neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018454 obsolete dysostosis of genetic origin skos:exactMatch Orphanet:404568 Dysostosis of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018455 obsolete dysostosis of genetic origin with limb anomaly as a major feature skos:exactMatch Orphanet:404571 Dysostosis of genetic origin with limb anomaly as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018457 obsolete rare genetic bone development disorder skos:exactMatch Orphanet:404584 Rare genetic bone development disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018488 obsolete rare genetic odontal or periodontal disorder skos:exactMatch Orphanet:420755 Rare genetic odontal or periodontal disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018496 obsolete ARX-related encephalopathy-brain malformation spectrum skos:exactMatch Orphanet:423655 ARX-related encephalopathy-brain malformation spectrum semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018497 obsolete rare autonomic nervous system disorder skos:exactMatch Orphanet:423662 Rare autonomic nervous system disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018501 obsolete rare carcinoma of stomach skos:exactMatch Orphanet:423771 Rare carcinoma of stomach semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018520 obsolete rare epithelial tumor of pancreas skos:exactMatch Orphanet:424033 Rare epithelial tumor of pancreas semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018529 obsolete qualitative or quantitative defects of Torsin-1A-interacting protein 1 skos:exactMatch Orphanet:424925 Qualitative or quantitative defects of Torsin-1A-interacting protein 1 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018538 obsolete inherited digestive cancer-predisposing syndrome skos:exactMatch Orphanet:425003 Inherited digestive cancer-predisposing syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018545 obsolete primary immunodeficiency with predisposition to severe viral infection skos:exactMatch Orphanet:431156 Primary immunodeficiency with predisposition to severe viral infection semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018549 obsolete late-onset scapuloperoneal muscular dystrophy with hyaline bodies skos:exactMatch Orphanet:431263 Late-onset scapuloperoneal muscular dystrophy with hyaline bodies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018550 obsolete spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder skos:exactMatch Orphanet:431320 Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018557 obsolete rare genetic autonomic nervous system disorder skos:exactMatch Orphanet:434786 Rare genetic autonomic nervous system disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018558 obsolete syndrome with wooly hair skos:exactMatch Orphanet:434809 Syndrome with woolly hair semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018562 obsolete hereditary otorhinolaryngological malformation skos:exactMatch Orphanet:435603 Genetic otorhinolaryngological malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018579 obsolete disorder of ketone body transport skos:exactMatch Orphanet:438072 Disorder of keton body transport semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018609 obsolete syndromic hereditary optic neuropathy skos:exactMatch Orphanet:441434 Syndromic hereditary optic neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018652 obsolete biological anomaly without phenotypic characterization skos:exactMatch Orphanet:447874 Biological anomaly without phenotypic characterization semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018701 obsolete congenital nemaline myopathy skos:exactMatch Orphanet:457074 Congenital nemaline myopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018719 obsolete obsolete rare capillary malformation with associated anomalies skos:exactMatch Orphanet:458830 Rare capillary malformation with associated anomalies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018720 obsolete common cystic lymphatic malformation skos:exactMatch Orphanet:458833 Common cystic lymphatic malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018721 obsolete rare combined vascular malformation skos:exactMatch Orphanet:458837 Rare combined vascular malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018723 obsolete rare vascular malformation of major vessels skos:exactMatch Orphanet:458844 Rare vascular malformation of major vessels semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018727 obsolete immunodeficiency due to a complement regulatory deficiency skos:exactMatch Orphanet:459348 Immunodeficiency due to a complement regulatory deficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018728 obsolete rare genetic capillary malformation skos:exactMatch Orphanet:459526 Rare genetic capillary malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018729 obsolete genetic vascular tumor skos:exactMatch Orphanet:459543 Rare genetic vascular tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018730 obsolete rare genetic venous malformation skos:exactMatch Orphanet:459548 Rare genetic venous malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018731 obsolete lethal multiple congenital anomalies/dysmorphic syndrome skos:exactMatch Orphanet:459787 Lethal multiple congenital anomalies/dysmorphic syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018743 obsolete immune-mediated acquired neuromuscular junction disease skos:exactMatch Orphanet:464764 Immune-mediated acquired neuromuscular junction disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018753 obsolete rare disease with malignant hyperthermia skos:exactMatch Orphanet:466658 Rare disease with malignant hyperthermia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018771 obsolete congenital anomaly of ventricular septum skos:exactMatch Orphanet:474347 Rare congenital anomaly of ventricular septum semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018775 obsolete axonal hereditary motor and sensory neuropathy skos:exactMatch Orphanet:476109 Axonal hereditary motor and sensory neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018779 obsolete hypercontractile muscle stiffness syndrome skos:exactMatch Orphanet:476403 Hypercontractile muscle stiffness syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018787 obsolete genetic cerebral small vessel disease skos:exactMatch Orphanet:477754 Genetic cerebral small vessel disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018788 obsolete COL4A1 or COL4A2-related cerebral small vessel disease skos:exactMatch Orphanet:477759 COL4A1 or COL4A2-related cerebral small vessel disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018789 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency skos:exactMatch Orphanet:477762 COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018790 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency skos:exactMatch Orphanet:477765 COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018791 obsolete Moyomoya angiopathy skos:exactMatch Orphanet:477768 Moyamoya angiopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018792 obsolete Moyamoya syndrome skos:exactMatch Orphanet:477771 Rare disorder with a moyamoya angiopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018796 obsolete isolated constitutional thrombocytopenia skos:exactMatch Orphanet:477797 Isolated constitutional thrombocytopenia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018797 obsolete genetic cardiac malformation skos:exactMatch Orphanet:477805 Genetic cardiac malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018799 obsolete rare hypercholesterolemia skos:exactMatch Orphanet:477811 Rare hypercholesterolemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018831 obsolete HTRA1-related cerebral small vessel disease skos:exactMatch Orphanet:482072 HTRA1-related cerebral small vessel disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018833 obsolete rare idiopathic macular telangiectasia skos:exactMatch Orphanet:482092 Rare idiopathic macular telangiectasia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018880 obsolete rare teratologic disease skos:exactMatch Orphanet:52662 Rare teratologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018928 obsolete rare hepatic disease skos:exactMatch Orphanet:57146 Rare hepatic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018972 obsolete rare epithelial tumor of stomach skos:exactMatch Orphanet:63443 Rare epithelial tumor of stomach semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019038 obsolete rare maxillo-facial surgical disease skos:exactMatch Orphanet:68329 Rare maxillo-facial surgical disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019039 obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect skos:exactMatch Orphanet:68334 Rare hemorrhagic disorder due to a constitutional coagulation factors defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019041 obsolete rare genetic inherited tumor skos:exactMatch Orphanet:68336 Rare genetic tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019043 obsolete rare genetic skin disease skos:exactMatch Orphanet:68346 Rare genetic skin disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019044 obsolete tumor of hematopoietic and lymphoid tissues skos:exactMatch Orphanet:68347 Tumor of hematopoietic and lymphoid tissues semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019047 obsolete rare deafness skos:exactMatch Orphanet:68361 Rare deafness semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019048 obsolete rare vascular disease skos:exactMatch Orphanet:68362 Rare vascular disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019049 obsolete rare dystonia skos:exactMatch Orphanet:68363 Rare dystonia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019058 obsolete neurometabolic disease skos:exactMatch Orphanet:68385 Neurometabolic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019059 obsolete rare parkinsonian disorder skos:exactMatch Orphanet:68402 Rare parkinsonian disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019061 obsolete rare parathyroid disease and phosphocalcic metabolism anomaly skos:exactMatch Orphanet:68415 Rare parathyroid disease and phosphocalcic metabolism anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019062 obsolete rare infectious disease skos:exactMatch Orphanet:68416 Rare infectious disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019063 obsolete vascular anomaly skos:exactMatch Orphanet:68419 Rare vascular anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019066 obsolete syndrome with brachydactyly skos:exactMatch Orphanet:69028 Dysostosis with brachydactyly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019096 obsolete rare pulmonary hypertension skos:exactMatch Orphanet:71198 Rare pulmonary hypertension semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019097 obsolete hemorrhagic disorder due to a constitutional platelet anomaly skos:exactMatch Orphanet:71202 Rare hemorrhagic disorder due to a constitutional platelet anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019099 obsolete rare soft tissue tumor skos:exactMatch Orphanet:71209 Rare soft tissue tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019110 obsolete rare central nervous system or retinal vascular disease skos:exactMatch Orphanet:71281 Rare central nervous system and retinal vascular disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019117 obsolete genetic nervous system disorder skos:exactMatch Orphanet:71859 Rare genetic neurological disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019183 obsolete inherited odontologic disease skos:exactMatch Orphanet:77830 Rare genetic odontologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019271 obsolete acrokeratoderma skos:exactMatch Orphanet:79356 Acrokeratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019277 obsolete epidermal appendage anomaly skos:exactMatch Orphanet:79362 Epidermal appendage anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019281 obsolete isolated genetic hair shaft abnormality skos:exactMatch Orphanet:79366 Isolated hair shaft abnormality semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019282 obsolete syndromic hair shaft abnormality skos:exactMatch Orphanet:79367 Syndromic hair shaft abnormality semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019285 obsolete syndromic nail anomaly skos:exactMatch Orphanet:79370 Syndromic nail anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019286 obsolete sebaceous gland anomaly skos:exactMatch Orphanet:79372 Sebaceous gland anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019292 obsolete dermis elastic tissue disorder skos:exactMatch Orphanet:79378 Dermis elastic tissue disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019298 obsolete rare urticaria skos:exactMatch Orphanet:79384 Rare urticaria semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019299 obsolete unclassified genetic skin disorder skos:exactMatch Orphanet:79385 Unclassified genetic skin disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019300 obsolete rare skin tumor or hamartoma skos:exactMatch Orphanet:79386 Rare skin tumor or hamartoma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019304 obsolete rare photodermatosis skos:exactMatch Orphanet:79390 Rare photodermatosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019305 obsolete immune deficiency with skin involvement skos:exactMatch Orphanet:79391 Immune deficiency with skin involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019491 obsolete rare intellectual disability skos:exactMatch Orphanet:87277 Rare intellectual disability semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019513 obsolete esophageal malformation skos:exactMatch Orphanet:88993 Esophageal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019515 obsolete rare dementia skos:exactMatch Orphanet:89043 Rare dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019519 obsolete rare skin disease skos:exactMatch Orphanet:89826 Rare skin disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019546 obsolete other acquired skin disease skos:exactMatch Orphanet:90077 Other acquired skin disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019590 obsolete rare endocrine growth disease skos:exactMatch Orphanet:90692 Rare endocrine growth disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019593 obsolete 46,XX disorder of sex development induced by fetal androgens excess skos:exactMatch Orphanet:90776 46,XX difference of sex development induced by fetal androgens excess semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019599 obsolete primary lipodystrophy skos:exactMatch Orphanet:90970 Primary lipodystrophy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019608 obsolete 46,XX disorder of sex development induced by maternal-derived androgen skos:exactMatch Orphanet:91144 46,XX difference of sex development induced by maternal-derived androgen semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019619 obsolete duplication of the esophagus skos:exactMatch Orphanet:91357 Duplication of the esophagus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019684 obsolete rare bone disease skos:exactMatch Orphanet:93419 Rare bone disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019688 obsolete sulfation-related bone disorder skos:exactMatch Orphanet:93423 Sulfation-related bone disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019692 obsolete multiple epiphyseal dysplasia and pseudoachondroplasia skos:exactMatch Orphanet:93429 Multiple epiphyseal dysplasia and pseudoachondroplasia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019704 obsolete primary bone dysplasia with decreased bone density skos:exactMatch Orphanet:93446 Primary bone dysplasia with decreased bone density semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019705 obsolete primary bone dysplasia with defective bone mineralization skos:exactMatch Orphanet:93447 Primary bone dysplasia with defective bone mineralization semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019709 obsolete cleidocranial dysplasia and isolated cranial ossification defect skos:exactMatch Orphanet:93451 Cleidocranial dysplasia and isolated cranial ossification defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019712 obsolete patellar dysostosis skos:exactMatch Orphanet:93455 Patellar dysostosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019714 obsolete non-syndromic polydactyly, syndactyly and/or hyperphalangy skos:exactMatch Orphanet:93458 Non-syndromic polydactyly, syndactyly and/or hyperphalangy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019717 obsolete chromosomal disease with overgrowth skos:exactMatch Orphanet:93461 Chromosomal disease with overgrowth semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019743 obsolete nephropathy secondary to a storage or other metabolic disease skos:exactMatch Orphanet:93593 Nephropathy secondary to a storage or other metabolic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019744 obsolete rare renal tubular disease skos:exactMatch Orphanet:93603 Rare renal tubular disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019747 obsolete hematological disorder with renal involvement skos:exactMatch Orphanet:93614 Hematological disorder with renal involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019748 obsolete rare cause of hypertension skos:exactMatch Orphanet:93618 Rare cause of hypertension semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019749 obsolete rare renal tumor skos:exactMatch Orphanet:93619 Rare renal tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019750 obsolete rare renal disease skos:exactMatch Orphanet:93626 Rare renal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019822 obsolete arterial duct anomaly skos:exactMatch Orphanet:95485 Arterial duct anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019827 obsolete disease associated with non-acquired combined pituitary hormone deficiency skos:exactMatch Orphanet:95495 Disease associated with non-acquired combined pituitary hormone deficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019833 obsolete pituitary hormone deficiency from tumoral origin skos:exactMatch Orphanet:95503 Pituitary hormone deficiency of tumoral origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019834 obsolete pituitary hormone deficiency from meningeal origin skos:exactMatch Orphanet:95505 Pituitary hormone deficiency of meningeal origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019841 obsolete pituitary hormone defiency from vascular origin skos:exactMatch Orphanet:95611 Pituitary hormone deficiency of vascular origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019843 obsolete pituitary hormone deficiency secondary to a granulomatous disease skos:exactMatch Orphanet:95617 Pituitary hormone deficiency secondary to a granulomatous disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019844 obsolete pituitary hormone deficiency secondary to storage disease skos:exactMatch Orphanet:95618 Pituitary hormone deficiency secondary to storage disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019856 obsolete primary congenital hypothyroidism without thyroid developmental anomaly skos:exactMatch Orphanet:95714 Primary congenital hypothyroidism without thyroid developmental anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019859 obsolete congenital thyroid malformation without hypothyroidism skos:exactMatch Orphanet:95718 Congenital thyroid malformation without hypothyroidism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019936 obsolete rare otorhinolaryngological malformation skos:exactMatch Orphanet:96333 Rare otorhinolaryngological malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019937 obsolete rare gynecologic or obstetric disease skos:exactMatch Orphanet:96344 Rare gynecologic or obstetric disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019965 obsolete rare benign ovarian tumor skos:exactMatch Orphanet:97293 Rare benign ovarian tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019996 obsolete rare cardiac disease skos:exactMatch Orphanet:97929 Rare cardiac disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019997 obsolete rare gastroenterologic disease skos:exactMatch Orphanet:97935 Rare gastroenterologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019998 obsolete gastroduodenal malformation skos:exactMatch Orphanet:97944 Gastroduodenal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020000 obsolete rare respiratory disease skos:exactMatch Orphanet:97955 Rare respiratory disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020002 obsolete rare surgical thoracic disease skos:exactMatch Orphanet:97962 Rare surgical thoracic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020003 obsolete rare surgical cardiac disease skos:exactMatch Orphanet:97965 Rare surgical cardiac disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020004 obsolete rare eye disease skos:exactMatch Orphanet:97966 Rare ophthalmic disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020005 obsolete rare endocrine disease skos:exactMatch Orphanet:97978 Rare endocrine disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020008 obsolete rare immune disease skos:exactMatch Orphanet:98004 Rare immune disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020009 obsolete rare neurologic disease skos:exactMatch Orphanet:98006 Rare neurologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020011 obsolete rare headache disorder skos:exactMatch Orphanet:98022 Rare headache semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020013 obsolete rare odontologic disease skos:exactMatch Orphanet:98026 Rare odontologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020014 obsolete rare disease with odontological manifestation skos:exactMatch Orphanet:98027 Rare disease with odontological manifestation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020015 obsolete rare circulatory system disease skos:exactMatch Orphanet:98028 Rare circulatory system disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020016 obsolete rare neurologic disease with psychiatric involvement skos:exactMatch Orphanet:98033 Rare neurologic disease with psychiatric involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020017 obsolete rare otorhinolaryngologic disease skos:exactMatch Orphanet:98036 Rare otorhinolaryngologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020018 obsolete cranial malformation skos:exactMatch Orphanet:98038 Cranial malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020019 obsolete digestive tract malformation skos:exactMatch Orphanet:98039 Digestive tract malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020020 obsolete visceral malformation of the liver, biliary tract, pancreas or spleen skos:exactMatch Orphanet:98041 Visceral malformation of the liver, biliary tract, pancreas or spleen semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020021 obsolete diaphragmatic or abdominal wall malformation skos:exactMatch Orphanet:98043 Diaphragmatic or abdominal wall malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020023 obsolete respiratory or mediastinal malformation skos:exactMatch Orphanet:98045 Respiratory or mediastinal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020024 obsolete rare infertility skos:exactMatch Orphanet:98047 Rare infertility semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020025 obsolete rare male infertility skos:exactMatch Orphanet:98048 Rare male infertility semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020026 obsolete rare female infertility skos:exactMatch Orphanet:98049 Rare female infertility semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020027 obsolete rare allergic disease skos:exactMatch Orphanet:98050 Rare allergic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020028 obsolete rare allergic respiratory disease skos:exactMatch Orphanet:98052 Rare allergic respiratory disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020029 obsolete rare genetic cardiac disease skos:exactMatch Orphanet:98054 Rare genetic cardiac disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020030 obsolete rare genetic renal disease skos:exactMatch Orphanet:98056 Rare genetic renal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020032 obsolete rare urinary tract tumor skos:exactMatch Orphanet:98058 Rare urinary tract tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020033 obsolete rare digestive tumor skos:exactMatch Orphanet:98059 Rare digestive tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020034 obsolete rare respiratory tract neoplasm skos:exactMatch Orphanet:98060 Rare respiratory tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020035 obsolete rare otorhinolaryngologic tumor skos:exactMatch Orphanet:98061 Rare otorhinolaryngologic tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020036 obsolete rare nervous system tumor skos:exactMatch Orphanet:98062 Rare nervous system tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020037 obsolete rare gynecological tumor skos:exactMatch Orphanet:98063 Rare gynecological tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020038 obsolete gonadal dysgenesis of gynecological interest skos:exactMatch Orphanet:98074 Gonadal dysgenesis of gynecological interest semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020039 obsolete 46,XX disorder of sex development induced by androgens excess skos:exactMatch Orphanet:98078 46,XX difference of sex development induced by androgens excess semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020042 obsolete syndrome with 46,XY disorder of sex development skos:exactMatch Orphanet:98087 Syndrome with 46,XY difference of sex development semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020051 obsolete total autosomal trisomy skos:exactMatch Orphanet:98131 Total autosomal trisomy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020052 obsolete partial autosomal trisomy/tetrasomy skos:exactMatch Orphanet:98132 Partial autosomal duplication/triplication semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020053 obsolete total autosomal monosomy skos:exactMatch Orphanet:98141 Total autosomal monosomy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020054 obsolete partial autosomal monosomy skos:exactMatch Orphanet:98142 Partial autosomal deletion semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020055 obsolete autosomal uniparental disomy skos:exactMatch Orphanet:98152 Autosomal uniparental disomy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020059 obsolete gonosome number anomaly skos:exactMatch Orphanet:98156 Sex-chromosome number anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020060 obsolete gonosome structural anomaly skos:exactMatch Orphanet:98157 Sex-chromosome structural anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020062 obsolete chromosome X structural anomaly skos:exactMatch Orphanet:98159 Chromosome X structural anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020063 obsolete malformation syndrome with hamartosis skos:exactMatch Orphanet:98196 Malformation syndrome with hamartosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020069 obsolete chronic encephalitis skos:exactMatch Orphanet:98255 Chronic encephalitis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020090 obsolete male infertility due to gonadal dysgenesis skos:exactMatch Orphanet:98313 Male infertility due to gonadal dysgenesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020091 obsolete male infertility due to obstructive azoospermia skos:exactMatch Orphanet:98343 Male infertility due to obstructive azoospermia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020093 obsolete autosomal dominant isolated diffuse palmoplantar keratoderma skos:exactMatch Orphanet:98349 Autosomal dominant isolated diffuse palmoplantar keratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020094 obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:98352 Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020095 obsolete autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:98353 Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020096 obsolete autosomal recessive isolated diffuse palmoplantar keratoderma skos:exactMatch Orphanet:98356 Autosomal recessive isolated diffuse palmoplantar keratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020097 obsolete autosomal recessive disease with focal palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:98357 Autosomal recessive disease with focal palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020098 obsolete constitutional anemia due to iron metabolism disorder skos:exactMatch Orphanet:98360 Constitutional anemia due to iron metabolism disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020100 obsolete rare hemolytic anemia skos:exactMatch Orphanet:98363 Rare hemolytic anemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020101 obsolete constitutional hemolytic anemia due to membrane defect skos:exactMatch Orphanet:98364 Rare constitutional hemolytic anemia due to a red cell membrane anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020104 obsolete rare constitutional hemolytic anemia due to an enzyme disorder skos:exactMatch Orphanet:98369 Rare constitutional hemolytic anemia due to an enzyme disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020105 obsolete hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies skos:exactMatch Orphanet:98370 Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020109 obsolete constitutional megaloblastic anemia due to vitamin B12 metabolism disorder skos:exactMatch Orphanet:98396 Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020111 obsolete constitutional megaloblastic anemia due to folate metabolism disorder skos:exactMatch Orphanet:98408 Constitutional megaloblastic anemia due to folate metabolism disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020116 obsolete rare blood coagulation disease skos:exactMatch Orphanet:98429 Rare coagulation disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020125 obsolete acquired neuromuscular junction disease skos:exactMatch Orphanet:98494 Acquired neuromuscular junction disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020126 obsolete rare peripheral neuropathy skos:exactMatch Orphanet:98496 Rare peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020130 obsolete malformation of the cerebellar vermis skos:exactMatch Orphanet:98514 Malformation of the cerebellar vermis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020131 obsolete malformation of the cerebellar hemispheres skos:exactMatch Orphanet:98516 Malformation of the cerebellar hemispheres semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020132 obsolete cranial nerve and nuclear aplasia skos:exactMatch Orphanet:98518 Cranial nerve and nuclear aplasia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020133 obsolete posterior fossa malformation skos:exactMatch Orphanet:98519 Posterior fossa malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020136 obsolete neurodegenerative disease with dementia skos:exactMatch Orphanet:98534 Neurodegenerative disease with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020137 obsolete frontotemporal degeneration with dementia skos:exactMatch Orphanet:98535 Frontotemporal degeneration with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020138 obsolete ataxia with dementia skos:exactMatch Orphanet:98538 Ataxia with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020139 obsolete early-onset ataxia with dementia skos:exactMatch Orphanet:98539 Early-onset ataxia with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020140 obsolete late-onset ataxia with dementia skos:exactMatch Orphanet:98540 Late-onset ataxia with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020141 obsolete infectious disease with dementia skos:exactMatch Orphanet:98542 Infectious disease with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020142 obsolete metabolic disease with dementia skos:exactMatch Orphanet:98543 Metabolic disease with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020144 obsolete cerebrovascular dementia skos:exactMatch Orphanet:98549 Rare cerebrovascular dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020148 obsolete syndromic aniridia skos:exactMatch Orphanet:98557 Syndromic aniridia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020151 obsolete rare palpebral disease skos:exactMatch Orphanet:98560 Rare palpebral disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020152 obsolete rare eyelid malformation skos:exactMatch Orphanet:98561 Congenital malformation of the eyelid semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020154 obsolete microblepharon-ablephara syndrome skos:exactMatch Orphanet:98563 Microblepharon-ablephara syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020155 obsolete eyelid border anomaly skos:exactMatch Orphanet:98564 Eyelid border anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020156 obsolete syndromic ankyloblepharon skos:exactMatch Orphanet:98565 Syndromic ankyloblepharon filiforme adnatum semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020157 obsolete syndromic palpebral coloboma skos:exactMatch Orphanet:98566 Syndromic eyelid coloboma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020158 obsolete eyelids malposition disorder skos:exactMatch Orphanet:98567 Rare eyelid malposition disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020162 obsolete secondary ectropion skos:exactMatch Orphanet:98571 Secondary ectropion semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020165 obsolete syndromic epicanthus skos:exactMatch Orphanet:98574 Syndromic epicanthus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020167 obsolete malposition of external canthus skos:exactMatch Orphanet:98576 Syndromic outer canthal malposition semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020184 obsolete rare eyebrow/eyelashes anomaly skos:exactMatch Orphanet:98594 Rare eyebrow/eyelash disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020192 obsolete rare lacrimal system disease skos:exactMatch Orphanet:98602 Rare disorder of the lacrimal apparatus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020195 obsolete excretory apparatus of the lacrimal system anomaly skos:exactMatch Orphanet:98605 Lacrimal drainage system anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020197 obsolete EEC syndrome and related syndrome skos:exactMatch Orphanet:98609 EEC syndrome and related disorders semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020198 obsolete rare conjunctival disease skos:exactMatch Orphanet:98610 Rare disorder with conjunctival involvement as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020206 obsolete rare refraction anomaly skos:exactMatch Orphanet:98618 Rare refraction anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020209 obsolete rare hyperopia and astigmatism skos:exactMatch Orphanet:98621 Rare hyperopia and astigmatism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020210 obsolete syndromic hyperopia skos:exactMatch Orphanet:98622 Syndromic hyperopia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020211 obsolete syndromic keratoconus skos:exactMatch Orphanet:98623 Syndromic keratoconus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020216 obsolete secondary dysgenetic glaucoma skos:exactMatch Orphanet:98631 Congenital malformation of the eye with glaucoma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020219 obsolete corneogoniodysgenesis skos:exactMatch Orphanet:98635 Corneodysgenesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020222 obsolete rare disease with glaucoma as a major feature skos:exactMatch Orphanet:98638 Rare disease with glaucoma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020223 obsolete lens and zonula anomaly skos:exactMatch Orphanet:98639 Rare lens disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020224 obsolete rare cataract skos:exactMatch Orphanet:98640 Rare disorder with lens opacification semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020225 obsolete syndromic cataract skos:exactMatch Orphanet:98641 Syndromic cataract semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020226 obsolete chromosomal anomaly with cataract skos:exactMatch Orphanet:98642 Chromosomal anomaly with cataract semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020228 obsolete cataract associated with a metabolic disease skos:exactMatch Orphanet:98644 Metabolic disease with cataract semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020230 obsolete renal disease with cataract skos:exactMatch Orphanet:98646 Renal disease with cataract semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020232 obsolete musculoskeletal disease with cataract skos:exactMatch Orphanet:98648 Musculoskeletal disease with cataract semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020233 obsolete dentocutaneous disease with cataract skos:exactMatch Orphanet:98649 Dentocutaneous disease with cataract semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020234 obsolete craniofacial anomaly with cataract skos:exactMatch Orphanet:98650 Craniofacial anomaly with cataract semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020235 obsolete lens size anomaly skos:exactMatch Orphanet:98652 Lens size anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020236 obsolete lens position anomaly skos:exactMatch Orphanet:98653 Lens position anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020237 obsolete lens shape anomaly skos:exactMatch Orphanet:98655 Lens shape anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020240 obsolete syndromic retinitis pigmentosa skos:exactMatch Orphanet:98661 Syndromic rod-cone dystrophy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020251 obsolete rare strabismus and restriction syndrome skos:exactMatch Orphanet:98681 Rare disorder with strabismus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020253 obsolete syndrome with a symptomatic strabismus skos:exactMatch Orphanet:98683 Syndromic disorder with strabismus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020254 obsolete craniostenosis associated with a strabismus skos:exactMatch Orphanet:98684 Craniostenosis with strabismus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020284 obsolete heart position anomaly skos:exactMatch Orphanet:98716 Heart position anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020285 obsolete transposition of the great arteries and conotruncal cardiac anomaly skos:exactMatch Orphanet:98717 Transposition of the great arteries and conotruncal cardiac anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020286 obsolete aortic malformation skos:exactMatch Orphanet:98718 Aortic malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020287 obsolete pulmonary artery or pulmonary branch anomaly skos:exactMatch Orphanet:98719 Pulmonary artery or pulmonary branch anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020288 obsolete atrioventricular valve anomaly skos:exactMatch Orphanet:98720 Atrioventricular valve anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020293 obsolete ascending aorta anomaly skos:exactMatch Orphanet:98725 Ascending aorta anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020294 obsolete atrial defect and interatrial communication skos:exactMatch Orphanet:98727 Rare atrial defect and interatrial communication semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020313 obsolete unclassified myelodysplastic/myeloproliferative disease skos:exactMatch Orphanet:98825 Unclassified myelodysplastic/myeloproliferative disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020339 obsolete X-linked complex spastic paraplegia skos:exactMatch Orphanet:98888 X-linked complex spastic paraplegia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020343 obsolete alpha-crystallinopathy skos:exactMatch Orphanet:98910 Alpha-crystallinopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020999 obsolete genetic chronic primary adrenal insufficiency skos:exactMatch Orphanet:101960 Genetic chronic primary adrenal insufficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0021027 obsolete genetic hair anomaly skos:exactMatch Orphanet:183450 Genetic hair anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0021028 obsolete genetic nail anomaly skos:exactMatch Orphanet:183454 Genetic nail anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0021034 obsolete hereditary alopecia skos:exactMatch Orphanet:481771 Genetic alopecia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0021037 obsolete genetic neurodegenerative disease with dementia skos:exactMatch Orphanet:276058 Genetic neurodegenerative disease with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0021198 obsolete rare genetic disease skos:exactMatch Orphanet:98053 Rare genetic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0022397 obsolete retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene skos:exactMatch Orphanet:156168 Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0022400 obsolete retinal ciliopathy due to mutation in the RPGRIP gene skos:exactMatch Orphanet:156174 Retinal ciliopathy due to mutation in the RPGRIP gene semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0022404 obsolete retinal ciliopathy due to mutation in Usher gene skos:exactMatch Orphanet:156177 Retinal ciliopathy due to mutation in Usher gene semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0022405 obsolete retinal ciliopathy due to mutation in nephronophthisis gene skos:exactMatch Orphanet:156180 Retinal ciliopathy due to mutation in nephronophthisis gene semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0022407 obsolete retinal ciliopathy due to mutation in Bardet-Biedl gene skos:exactMatch Orphanet:156183 Retinal ciliopathy due to mutation in Bardet-Biedl gene semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0022409 obsolete nephropathy-associated ciliopathy skos:exactMatch Orphanet:156162 Renal ciliopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0024145 obsolete Pierre Robin syndrome associated with collagen disease skos:exactMatch Orphanet:138041 Pierre Robin syndrome associated with collagen disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0024147 obsolete Pierre Robin syndrome associated with a chromosomal anomaly skos:exactMatch Orphanet:138047 Pierre Robin syndrome associated with a chromosomal anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0024148 obsolete Pierre Robin syndrome associated with branchial archs anomalies skos:exactMatch Orphanet:138050 Pierre Robin syndrome associated with branchial archs anomalies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0024149 obsolete Pierre Robin syndrome associated with bone disease skos:exactMatch Orphanet:138055 Pierre Robin syndrome associated with bone disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0024471 obsolete non-inflammatory vasculopathy skos:exactMatch Orphanet:496924 Non-inflammatory vasculopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0024987 obsolete genetic urogenital tract malformation skos:exactMatch Orphanet:156622 Genetic urogenital tract malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0025511 obsolete inherited neuroendocrine tumor skos:exactMatch Orphanet:271847 Genetic neuroendocrine tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0026141 obsolete genetic urticaria skos:exactMatch Orphanet:182734 Genetic urticaria semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0026150 obsolete genetic erythrokeratoderma skos:exactMatch Orphanet:183438 Genetic erythrokeratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0026151 obsolete genetic acrokeratoderma skos:exactMatch Orphanet:183441 Genetic acrokeratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0026152 obsolete genetic porokeratosis skos:exactMatch Orphanet:183444 Genetic porokeratosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0026157 obsolete genetic pigmentation anomaly of the skin skos:exactMatch Orphanet:183463 Genetic pigmentation anomaly of the skin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0026166 obsolete genetic immune deficiency with skin involvement skos:exactMatch Orphanet:183494 Genetic immune deficiency with skin involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0026167 obsolete genetic neuromuscular disease skos:exactMatch Orphanet:183497 Genetic neuromuscular disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0026170 obsolete genetic central nervous system malformation skos:exactMatch Orphanet:183506 Genetic central nervous system malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0026173 obsolete rare genetic medullar disease skos:exactMatch Orphanet:183515 Rare genetic medullar disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0026180 obsolete genetic congenital limb malformation skos:exactMatch Orphanet:183536 Genetic congenital limb malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0026181 obsolete genetic renal or urinary tract malformation skos:exactMatch Orphanet:183539 Genetic renal or urinary tract malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0026182 obsolete genetic cranial malformation skos:exactMatch Orphanet:183542 Genetic cranial malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0026183 obsolete genetic digestive tract malformation skos:exactMatch Orphanet:183545 Genetic digestive tract malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0026184 obsolete genetic visceral malformation of the liver, biliary tract, pancreas or spleen skos:exactMatch Orphanet:183548 Genetic visceral malformation of the liver, biliary tract, pancreas or spleen semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0026185 obsolete genetic respiratory or mediastinal malformation skos:exactMatch Orphanet:183554 Genetic respiratory or mediastinal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0026186 obsolete genetic developmental defect of the eye skos:exactMatch Orphanet:183557 Genetic developmental defect of the eye semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0026187 obsolete genetic malformation syndrome with short stature skos:exactMatch Orphanet:183570 Genetic malformation syndrome with short stature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0026188 obsolete genetic overgrowth/obesity syndrome skos:exactMatch Orphanet:183573 Genetic overgrowth/obesity syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0026189 obsolete genetic branchial arch or oral-acral syndrome skos:exactMatch Orphanet:183576 Genetic branchial arch or oral-acral syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0026190 obsolete genetic malformation syndrome with odontal and/or periodontal component skos:exactMatch Orphanet:183580 Genetic malformation syndrome with odontal and/or periodontal component semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0026192 obsolete genetic glomerular disease skos:exactMatch Orphanet:183586 Genetic glomerular disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0026193 obsolete genetic thrombotic microangiopathy skos:exactMatch Orphanet:183589 Genetic thrombotic microangiopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0026203 obsolete genetic respiratory malformation skos:exactMatch Orphanet:183622 Genetic respiratory malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0026209 obsolete genetic polyendocrinopathy skos:exactMatch Orphanet:183643 Genetic polyendocrinopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0027652 5-fluorouracil toxicity skos:exactMatch Orphanet:240839 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0027653 abacavir toxicity skos:exactMatch Orphanet:240841 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0027655 allopurinol toxicity skos:exactMatch Orphanet:240845 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0027664 cisplatin toxicity skos:exactMatch Orphanet:240863 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0027666 codeine toxicity skos:exactMatch Orphanet:240867 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0027667 efavirenz toxicity skos:exactMatch Orphanet:240869 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0027668 flucloxacilline toxicity skos:exactMatch Orphanet:240871 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0027675 irinotecan toxicity skos:exactMatch Orphanet:240885 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0027677 isoniazid toxicity skos:exactMatch Orphanet:240887 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0027687 raltegravir toxicity skos:exactMatch Orphanet:240905 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0027696 voriconazole toxicity skos:exactMatch Orphanet:240921 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0027750 obsolete serpinopathy with toxic serpin polymerization skos:exactMatch Orphanet:250808 Serpinopathy with toxic serpin polymerization semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0027751 obsolete serpinopathy with loss of serpin function skos:exactMatch Orphanet:250811 Serpinopathy with loss of serpin function semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0027929 obsolete genetic polycythemia skos:exactMatch Orphanet:250165 Genetic polycythemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0028569 obsolete genetic interstitial lung disease skos:exactMatch Orphanet:264992 Genetic interstitial lung disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0028618 obsolete gastroenteric neuroendocrine neoplasm skos:exactMatch Orphanet:481508 Gastroenteric neuroendocrine neoplasm semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0028737 obsolete biliary atresia disorder skos:exactMatch Orphanet:498345 Biliary atresia and associated disorders semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0028795 obsolete rare genetic systemic or rheumatologic disease skos:exactMatch Orphanet:271870 Rare genetic systemic or rheumatologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0028868 obsolete genetic frontotemporal degeneration with dementia skos:exactMatch Orphanet:276061 Genetic frontotemporal degeneration with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0029014 obsolete rare systemic or rheumatological disease of childhood skos:exactMatch Orphanet:280342 Rare systemic or rheumatological disease of childhood semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0029102 obsolete autosomal ichthyosis syndrome with other associated signs skos:exactMatch Orphanet:281244 Autosomal ichthyosis syndrome with other associated signs semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0029810 obsolete laminopathy with striated muscle involvement skos:exactMatch Orphanet:300755 Laminopathy with striated muscle involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0029811 obsolete laminopathy with peripheral neuropathy skos:exactMatch Orphanet:300758 Laminopathy with peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0029812 obsolete laminopathy with lipodystrophy skos:exactMatch Orphanet:300763 Laminopathy with lipodystrophy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0029813 obsolete laminopathy with premature aging skos:exactMatch Orphanet:300766 Laminopathy with premature aging semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0030767 obsolete genetic tumor of hematopoietic and lymphoid tissues skos:exactMatch Orphanet:322126 Genetic tumor of hematopoietic and lymphoid tissues semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0031004 obsolete genetic disorder of sex development of gynecological interest skos:exactMatch Orphanet:325665 Genetic difference of sex development of gynecological interest semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0031016 obsolete genetic disorder of sex development skos:exactMatch Orphanet:325690 Genetic difference of sex development semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0031689 obsolete genetic progeroid syndrome skos:exactMatch Orphanet:363245 Genetic progeroid syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0031697 obsolete genetic intractable diarrhea of infancy skos:exactMatch Orphanet:363300 Genetic intractable diarrhea of infancy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0031698 obsolete genetic intestinal disease due to fat malabsorption skos:exactMatch Orphanet:363306 Genetic intestinal disease due to fat malabsorption semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0031949 obsolete genetic neurovascular malformation skos:exactMatch Orphanet:371436 Genetic neurovascular malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0031952 obsolete genetic syndromic esophageal malformation skos:exactMatch Orphanet:371445 Genetic syndromic esophageal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0032011 obsolete biological anomaly skos:exactMatch Orphanet:377790 Biological anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0032013 obsolete clinical syndrome skos:exactMatch Orphanet:377792 Clinical syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0032014 obsolete particular clinical situation in a disease or syndrome skos:exactMatch Orphanet:377793 Particular clinical situation in a disease or syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0032221 obsolete rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism skos:exactMatch Orphanet:399846 Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0033056 obsolete genetic facial cleft skos:exactMatch Orphanet:414726 Genetic facial cleft semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0033169 curariform drugs toxicity skos:exactMatch Orphanet:413693 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0033170 statin toxicity skos:exactMatch Orphanet:413696 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0033181 phenytoin or carbamazepine toxicity skos:exactMatch Orphanet:414750 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0033329 obsolete genetic precocious puberty skos:exactMatch Orphanet:435554 Genetic precocious puberty semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0033331 obsolete genetic precocious puberty in female skos:exactMatch Orphanet:435564 Genetic precocious puberty in female semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0033334 obsolete genetic nose and cavum anomaly skos:exactMatch Orphanet:435606 Genetic nose and cavum anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0033335 obsolete genetic larynx anomaly skos:exactMatch Orphanet:435609 Genetic larynx anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0033336 obsolete genetic tracheal anomaly skos:exactMatch Orphanet:435612 Genetic tracheal anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0033927 obsolete genetic complex vascular malformation with associated anomalies skos:exactMatch Orphanet:459537 Genetic complex vascular malformation with associated anomalies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0034039 obsolete genetic hemoglobinopathy skos:exactMatch Orphanet:466066 Genetic hemoglobinopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0034443 obsolete genetic non-acquired premature ovarian failure skos:exactMatch Orphanet:485382 Rare genetic premature ovarian failure semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0034641 obsolete rare genetic hyperkinetic movement disorder skos:exactMatch Orphanet:496916 Rare genetic hyperkinetic movement disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0034661 obsolete syndromic biliary atresia skos:exactMatch Orphanet:498350 Syndromic biliary atresia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0034667 obsolete longitudinal limb defect skos:exactMatch Orphanet:498457 Non-syndromic longitudinal limb defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0034668 obsolete terminal transverse limb defect skos:exactMatch Orphanet:498461 Non-syndromic terminal transverse limb defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0034669 obsolete non-syndromic preaxial polydactyly skos:exactMatch Orphanet:498464 Non-syndromic preaxial polydactyly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0034670 obsolete non-syndromic postaxial polydactyly skos:exactMatch Orphanet:498467 Non-syndromic postaxial polydactyly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0034671 obsolete non-syndromic complex polydactyly skos:exactMatch Orphanet:498470 Non-syndromic complex polydactyly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0034733 obsolete cochlear nerve deficiency skos:exactMatch Orphanet:502318 Cochlear nerve deficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0034901 obsolete ATP13A2-related parkinsonism skos:exactMatch Orphanet:514980 ATP13A2-related parkinsonism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0034923 obsolete inflammatory/autoimmune disorder involving the lacrimal system skos:exactMatch Orphanet:519264 Inflammatory/autoimmune disorder involving the lacrimal system semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0034926 obsolete rare disorder with entropion skos:exactMatch Orphanet:519270 Rare disorder with entropion semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0034931 obsolete rare conjunctivitis skos:exactMatch Orphanet:519280 Rare conjunctivitis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0034937 obsolete syndromic ectopia lentis skos:exactMatch Orphanet:519292 Syndromic ectopia lentis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0034943 obsolete isolated vitreoretinopathy skos:exactMatch Orphanet:519304 Isolated vitreoretinopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0034953 obsolete syndromic inherited retinal disorder skos:exactMatch Orphanet:519325 Syndromic inherited retinal disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0034954 obsolete syndromic vitreoretinopathy skos:exactMatch Orphanet:519327 Syndromic vitreoretinopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0034961 obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature skos:exactMatch Orphanet:519341 Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0034962 obsolete rare ophthalmic disorder with cortical involvement skos:exactMatch Orphanet:519343 Rare ophthalmic disorder with cortical involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0034965 obsolete rare ophthalmic disorder with cranial nerve involvement skos:exactMatch Orphanet:519349 Rare ophthalmic disorder with cranial nerve involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0034968 obsolete rare ocular motility/alignment disorder skos:exactMatch Orphanet:519355 Rare ocular motility/alignment disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0034977 obsolete isolated microspherophakia skos:exactMatch Orphanet:519396 Isolated microspherophakia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0035001 obsolete rare disorder of the visual organs skos:exactMatch Orphanet:520814 Rare disorder of the visual organs semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0035002 obsolete isolated inherited retinal disorder skos:exactMatch Orphanet:520817 Isolated inherited retinal disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0035013 obsolete genetic primary orthostatic disorder skos:exactMatch Orphanet:521232 Genetic primary orthostatic disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0035014 obsolete primary orthostatic disorder skos:exactMatch Orphanet:521236 Primary orthostatic disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0035037 obsolete rare genetic disorder of the visual organs skos:exactMatch Orphanet:522504 Rare genetic disorder of the visual organs semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0035075 obsolete secondary early-onset glaucoma of genetic origin skos:exactMatch Orphanet:522580 Secondary early-onset glaucoma of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0035162 obsolete PIK3CA-related overgrowth syndrome skos:exactMatch Orphanet:530313 PIK3CA-related overgrowth syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0035274 obsolete anomaly of the coronary ostia skos:exactMatch Orphanet:542822 Anomaly of the coronary ostia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0035328 obsolete rare disorder due to poisoning skos:exactMatch Orphanet:556508 Rare disorder due to poisoning semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0035426 obsolete rare disorder potentially indicated for transplant or complication after transplantation skos:exactMatch Orphanet:565779 Rare disorder potentially indicated for transplant or complication after transplantation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0035469 obsolete primary lymphedema without systemic or visceral involvement skos:exactMatch Orphanet:568041 Primary lymphedema without systemic or visceral involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0035470 obsolete primary lymphedema with systemic or visceral involvement skos:exactMatch Orphanet:568044 Primary lymphedema with systemic or visceral involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0035471 obsolete disorder with multisystemic involvement and primary lymphedema skos:exactMatch Orphanet:568047 Disorder with multisystemic involvement and primary lymphedema semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0035561 obsolete sporadic human prion disease skos:exactMatch Orphanet:576356 Sporadic human prion disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0035645 obsolete inherited gynecological cancer-predisposing syndrome skos:exactMatch Orphanet:589746 Inherited gynecological cancer-predisposing syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0035682 obsolete fibrous dysplasia/McCune-Albright syndrome skos:exactMatch Orphanet:595216 Fibrous dysplasia/McCune-Albright syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0035684 obsolete epidermolysis bullosa simplex without extracutaneous involvement skos:exactMatch Orphanet:595346 Epidermolysis bullosa simplex without extracutaneous involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0035685 obsolete epidermolysis bullosa simplex with extracutaneous involvement skos:exactMatch Orphanet:595351 Epidermolysis bullosa simplex with extracutaneous involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0035689 obsolete syndrome of reduced sensitivity to thyroid hormone skos:exactMatch Orphanet:596426 Syndrome of reduced sensitivity to thyroid hormone semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0035786 obsolete non-syndromic cloacal malformation skos:exactMatch Orphanet:600998 Non-syndromic cloacal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0035862 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome skos:exactMatch Orphanet:611314 Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0035863 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability skos:exactMatch Orphanet:611327 Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0035875 ivermectin toxicity skos:exactMatch Orphanet:574637 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0035876 belinostat toxicity or dose selection skos:exactMatch Orphanet:574671 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0036025 toxicity to dolutegravir skos:exactMatch Orphanet:596744 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0037716 obsolete rare genetic deafness skos:exactMatch Orphanet:96210 Rare genetic deafness semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0037860 obsolete rare systemic or rheumatologic disease skos:exactMatch Orphanet:98023 Rare systemic or rheumatologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0038261 obsolete genetic neurological channelopathy of the central nervous system skos:exactMatch Orphanet:98743 Genetic neurological channelopathy of the central nervous system semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0038268 obsolete autoimmune neurological channelopathy skos:exactMatch Orphanet:98750 Autoimmune neurological channelopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0043005 obsolete genetic multiple congenital anomalies/dysmorphic syndrome skos:exactMatch Orphanet:183533 Genetic multiple congenital anomalies/dysmorphic syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0043008 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability skos:exactMatch Orphanet:330206 Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0044636 obsolete rare hyperkinetic movement disorder skos:exactMatch Orphanet:494457 Rare hyperkinetic movement disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0044655 obsolete c12orf65-related combined oxidative phosphorylation defect skos:exactMatch Orphanet:497623 C12ORF65-related combined oxidative phosphorylation defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0800084 obsolete primary bone dysplasia with increased bone density skos:exactMatch Orphanet:93444 Primary bone dysplasia with increased bone density semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0800087 obsolete type 11 collagen-related bone disorder skos:exactMatch Orphanet:93422 Type 11 collagen-related bone disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0800089 obsolete primary bone dysplasia with disorganized development of skeletal components skos:exactMatch Orphanet:93450 Primary bone dysplasia with disorganized development of skeletal components semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0800090 obsolete ectrodactyly with and without other manifestations skos:exactMatch Orphanet:498477 Ectrodactyly with and without other manifestations semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0800091 obsolete overgrowth or tall stature syndrome with skeletal involvement skos:exactMatch Orphanet:498448 Overgrowth or tall stature syndrome with skeletal involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0800092 obsolete hereditary inflammatory or rheumatoid-like osteoarthropathy skos:exactMatch Orphanet:498445 Genetic inflammatory or rheumatoid-like osteoarthropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0800093 obsolete dysostosis with brachydactyly without extraskeletal manifestations skos:exactMatch Orphanet:498451 Dysostosis with brachydactyly without extraskeletal manifestations semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0800094 obsolete dysostosis with brachydactyly with extraskeletal manifestations skos:exactMatch Orphanet:498454 Dysostosis with brachydactyly with extraskeletal manifestations semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0800095 obsolete syndrome with synostosis or other joint formation defect skos:exactMatch Orphanet:93459 Syndrome with synostosis or other joint formation defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0957001 obsolete hereditary mixed dermis disorder skos:exactMatch Orphanet:183481 Genetic mixed dermis disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0957009 obsolete hereditary posterior fossa malformation skos:exactMatch Orphanet:269557 Genetic posterior fossa malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0957024 obsolete hereditary 46,XX disorder of sex development skos:exactMatch Orphanet:325697 Genetic 46,XX difference of sex development semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0957025 obsolete hereditary 46,XY disorder of sex development skos:exactMatch Orphanet:325706 Genetic 46,XY difference of sex development semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0957404 obsolete pyogenic autoinflammatory syndrome of childhood skos:exactMatch Orphanet:324942 Pyogenic autoinflammatory syndrome of childhood semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:8000030 obsolete morphological anomaly skos:exactMatch Orphanet:377791 Morphological anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:8000031 obsolete subtype of a disorder skos:exactMatch Orphanet:557494 subtype of a disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:8000033 obsolete group of disorders skos:exactMatch Orphanet:557492 group of disorders semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +subject_id subject_label predicate_id object_id object_label mapping_justification confidence comment +MONDO:0015076 obsolete rare parathyroid tumor skos:exactMatch Orphanet:100090 Rare parathyroid tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015081 obsolete neuroendocrine tumor with other location skos:exactMatch Orphanet:100101 Neuroendocrine tumor with other location semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015088 obsolete autosomal dominant pure spastic paraplegia skos:exactMatch Orphanet:100980 Autosomal dominant pure spastic paraplegia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015089 obsolete autosomal recessive complex spastic paraplegia skos:exactMatch Orphanet:100981 Autosomal recessive complex spastic paraplegia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015090 obsolete autosomal recessive pure spastic paraplegia skos:exactMatch Orphanet:100982 Autosomal recessive pure spastic paraplegia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015106 obsolete rare urogenital disease skos:exactMatch Orphanet:101433 Rare urogenital disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015107 obsolete rare genetic eye disease skos:exactMatch Orphanet:101435 Rare genetic eye disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015110 obsolete genetic cardiac rhythm disease skos:exactMatch Orphanet:101934 Genetic cardiac rhythm disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015111 obsolete gastroesophageal disease skos:exactMatch Orphanet:101936 Rare gastroesophageal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015112 obsolete rare pancreatic disease skos:exactMatch Orphanet:101937 Rare pancreatic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015113 obsolete rare vascular liver disease skos:exactMatch Orphanet:101938 Rare vascular liver disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015114 obsolete rare parenchymal liver disease skos:exactMatch Orphanet:101939 Rare parenchymal liver disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015115 obsolete rare genetic metabolic liver disease skos:exactMatch Orphanet:101940 Rare metabolic liver disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015116 obsolete rare biliary tract disease skos:exactMatch Orphanet:101941 Rare biliary tract disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015117 obsolete rare hepatic and biliary tract tumor skos:exactMatch Orphanet:101943 Rare hepatic and biliary tract tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015118 obsolete rare pulmonary disease skos:exactMatch Orphanet:101944 Rare pulmonary disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015119 obsolete bronchopulmonary tumor skos:exactMatch Orphanet:101945 Rare bronchopulmonary and pleural cavity tumors semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015121 obsolete rare eye tumor skos:exactMatch Orphanet:101950 Rare eye tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015123 obsolete rare inherited dyslipidemia skos:exactMatch Orphanet:101953 Rare dyslipidemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015124 obsolete rare adrenal disease skos:exactMatch Orphanet:101954 Rare adrenal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015125 obsolete rare thyroid disease skos:exactMatch Orphanet:101955 Rare thyroid disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015130 obsolete acquired chronic primary adrenal insufficiency skos:exactMatch Orphanet:101963 Acquired chronic primary adrenal insufficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015132 obsolete immunodeficiency predominantly affecting antibody production skos:exactMatch Orphanet:101977 Immunodeficiency predominantly affecting antibody production semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015133 obsolete quantitative and/or qualitative congenital phagocyte defect skos:exactMatch Orphanet:101985 Quantitative and/or qualitative congenital phagocyte defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015135 obsolete primary immunodeficiency due to a genetic defect in innate immunity skos:exactMatch Orphanet:101988 Primary immunodeficiency due to a defect in innate immunity semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015139 obsolete rare epilepsy skos:exactMatch Orphanet:101998 Rare epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015141 obsolete disorder of medulla oblongata skos:exactMatch Orphanet:102000 Medullar disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015143 obsolete rare movement disorder skos:exactMatch Orphanet:102003 Rare movement disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015144 obsolete brain inflammatory disease skos:exactMatch Orphanet:102005 Brain inflammatory disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015145 obsolete neurovascular malformation skos:exactMatch Orphanet:102006 Neurovascular malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015162 obsolete rare syndromic intellectual disability skos:exactMatch Orphanet:102369 Rare syndromic intellectual disability semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015180 obsolete intestinal disease due to fat malabsorption skos:exactMatch Orphanet:104005 Intestinal disease due to fat malabsorption semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015188 obsolete metabolic disorder with intestinal involvement skos:exactMatch Orphanet:104013 Metabolic disease with intestinal involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015207 obsolete non-syndromic esophageal malformation skos:exactMatch Orphanet:108959 Non-syndromic esophageal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015208 obsolete syndromic esophageal malformation skos:exactMatch Orphanet:108961 Syndromic esophageal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015209 obsolete non-syndromic gastroduodenal malformation skos:exactMatch Orphanet:108963 Non-syndromic gastroduodenal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015210 obsolete syndromic gastroduodenal malformation skos:exactMatch Orphanet:108965 Syndromic gastroduodenal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015214 obsolete syndromic visceral malformation skos:exactMatch Orphanet:108973 Syndromic visceral malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015215 obsolete non-syndromic diaphragmatic or abdominal wall malformation skos:exactMatch Orphanet:108977 Non-syndromic diaphragmatic or abdominal wall malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015216 obsolete syndromic diaphragmatic or abdominal wall malformation skos:exactMatch Orphanet:108979 Syndromic diaphragmatic or abdominal wall malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015219 obsolete non-syndromic central nervous system malformation skos:exactMatch Orphanet:108989 Non-syndromic central nervous system malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015221 obsolete non-syndromic respiratory or mediastinal malformation skos:exactMatch Orphanet:108993 Non-syndromic respiratory or mediastinal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015222 obsolete syndromic respiratory or mediastinal malformation skos:exactMatch Orphanet:108995 Syndromic respiratory or mediastinal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015223 obsolete rare anemia skos:exactMatch Orphanet:108997 Rare anemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015224 obsolete rare intoxication skos:exactMatch Orphanet:108999 Rare disorder due to toxic effects semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015227 obsolete non-syndromic limb malformation skos:exactMatch Orphanet:109011 Non-syndromic limb malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015245 obsolete rare intestinal disease skos:exactMatch Orphanet:117569 Rare intestinal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015305 obsolete rare endometriosis skos:exactMatch Orphanet:137820 Extrapelvic endometriosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015310 obsolete syndromic optic nerve hypoplasia skos:exactMatch Orphanet:137905 Syndromic optic nerve hypoplasia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015319 obsolete rare disease with Pierre Robin syndrome skos:exactMatch Orphanet:138044 Rare disease with Pierre Robin syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015323 obsolete teratogenic Pierre Robin syndrome skos:exactMatch Orphanet:138059 Teratogenic Pierre Robin syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015328 obsolete rare bone development disorder skos:exactMatch Orphanet:139012 Rare bone development disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015329 obsolete malformation syndrome with short stature skos:exactMatch Orphanet:139021 Malformation syndrome with short stature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015330 obsolete overgrowth/obesity syndrome skos:exactMatch Orphanet:139024 Overgrowth/obesity syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015331 obsolete malformation syndrome with skin/mucosae involvement skos:exactMatch Orphanet:139027 Rare developmental defect with skin/mucosae involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015332 obsolete rare developmental defect with connective tissue involvement skos:exactMatch Orphanet:139030 Rare developmental defect with connective tissue involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015334 obsolete branchial arch or oral-acral syndrome skos:exactMatch Orphanet:139036 Branchial arch or oral-acral syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015335 obsolete Mendelian syndromes with cleft lip/palate skos:exactMatch Orphanet:139039 Orofacial clefting syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015336 obsolete malformation syndrome with odontal and/or periodontal component skos:exactMatch Orphanet:139042 Malformation syndrome with odontal and/or periodontal component semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015359 obsolete autosomal dominant hereditary demyelinating motor and sensory neuropathy skos:exactMatch Orphanet:140453 Autosomal dominant hereditary demyelinating motor and sensory neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015360 obsolete autosomal dominant hereditary axonal motor and sensory neuropathy skos:exactMatch Orphanet:140456 Autosomal dominant hereditary axonal motor and sensory neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015361 obsolete autosomal recessive hereditary demyelinating motor and sensory neuropathy skos:exactMatch Orphanet:140459 Autosomal recessive hereditary demyelinating motor and sensory neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015365 obsolete autosomal dominant hereditary sensory and autonomic neuropathy skos:exactMatch Orphanet:140474 Autosomal dominant hereditary sensory and autonomic neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015366 obsolete autosomal recessive hereditary sensory and autonomic neuropathy skos:exactMatch Orphanet:140477 Autosomal recessive hereditary sensory and autonomic neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015368 obsolete neuro-ophthalmological disease skos:exactMatch Orphanet:140653 Neuro-ophthalmological disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015475 obsolete rare head and neck malformation skos:exactMatch Orphanet:155832 Rare head and neck malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015485 obsolete primary hereditary glaucoma skos:exactMatch Orphanet:156005 Primary early-onset glaucoma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015488 obsolete predominantly large-vessel vasculitis skos:exactMatch Orphanet:156140 Predominantly large-vessel vasculitis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015489 obsolete predominantly medium-vessel vasculitis skos:exactMatch Orphanet:156143 Predominantly medium-vessel vasculitis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015490 obsolete predominantly small-vessel vasculitis skos:exactMatch Orphanet:156146 Predominantly small-vessel vasculitis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015495 obsolete otomandibular dysplasia associated with monogenic syndromes skos:exactMatch Orphanet:156202 Otomandibular dysplasia associated with monogenic syndromes semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015499 obsolete paralytic facial malformation skos:exactMatch Orphanet:156224 Paralytic facial malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015501 obsolete syndrome or malformation associated with head and neck malformations skos:exactMatch Orphanet:156237 Syndrome or malformation associated with head and neck malformations semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015502 obsolete pinnae and external auditory canal anomaly skos:exactMatch Orphanet:156243 Pinnae and external auditory canal anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015504 obsolete larynx anomaly skos:exactMatch Orphanet:156249 Larynx anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015506 obsolete rare syndrome with cardiac malformations skos:exactMatch Orphanet:156532 Rare syndrome with cardiac malformations semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015507 obsolete rare genetic hepatic disease skos:exactMatch Orphanet:156601 Rare genetic hepatic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015508 obsolete hereditary parenchymatous liver disease skos:exactMatch Orphanet:156604 Genetic parenchymatous liver disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015509 obsolete hereditary biliary tract disease skos:exactMatch Orphanet:156607 Genetic biliary tract disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015510 obsolete rare genetic respiratory disease skos:exactMatch Orphanet:156610 Rare genetic respiratory disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015511 obsolete rare genetic urogenital disease skos:exactMatch Orphanet:156619 Rare genetic urogenital disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015512 obsolete genetic hypertension skos:exactMatch Orphanet:156629 Rare genetic cause of hypertension semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015513 obsolete rare genetic endocrine disease skos:exactMatch Orphanet:156638 Rare genetic endocrine disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015549 obsolete rare genetic hematologic disease skos:exactMatch Orphanet:158300 Rare genetic hematologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015572 obsolete cerebral malformation due to abnormal neuronal migration skos:exactMatch Orphanet:163209 Non-syndromic cerebral malformation due to abnormal neuronal migration semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015575 obsolete rare bacterial infectious disease skos:exactMatch Orphanet:163582 Rare bacterial infectious disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015576 obsolete rare viral disease skos:exactMatch Orphanet:163585 Rare viral disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015577 obsolete rare parasitic disease skos:exactMatch Orphanet:163588 Rare parasitic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015578 obsolete rare mycosis skos:exactMatch Orphanet:163591 Rare mycosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015582 obsolete rare disorder related with pregnancy, childbirth and puerperium skos:exactMatch Orphanet:163637 Rare disorder related with pregnancy, childbirth and puerperium semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015603 obsolete rare odontal or periodontal disorder skos:exactMatch Orphanet:164001 Rare odontal or periodontal disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015615 obsolete rare genetic gastroenterological disease skos:exactMatch Orphanet:165652 Rare genetic gastroenterological disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015616 obsolete rare genetic intestinal disease skos:exactMatch Orphanet:165655 Genetic intestinal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015617 obsolete hereditary gastro-esophageal disease skos:exactMatch Orphanet:165658 Genetic gastro-esophageal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015618 obsolete genetic pancreatic disease skos:exactMatch Orphanet:165661 Genetic pancreatic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015620 obsolete syndromic urogenital tract malformation skos:exactMatch Orphanet:165707 Syndromic urogenital tract malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015621 obsolete rare abdominal surgical disease skos:exactMatch Orphanet:165711 Rare abdominal surgical disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015651 obsolete neurocutaneous syndrome with epilepsy skos:exactMatch Orphanet:166466 Neurocutaneous syndrome with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015652 obsolete chromosomal anomaly with epilepsy as a major feature skos:exactMatch Orphanet:166469 Chromosomal anomaly with epilepsy as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015654 obsolete idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes skos:exactMatch Orphanet:166475 Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015655 obsolete cerebral malformation with epilepsy skos:exactMatch Orphanet:166478 Cerebral malformation with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015656 obsolete metabolic disease with epilepsy skos:exactMatch Orphanet:166481 Metabolic diseases with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015657 obsolete inflammatory and autoimmune disease with epilepsy skos:exactMatch Orphanet:166484 Inflammatory and autoimmune disease with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015658 obsolete cerebral diseases of vascular origin with epilepsy skos:exactMatch Orphanet:166487 Cerebral diseases of vascular origin with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015659 obsolete infectious disease with epilepsy skos:exactMatch Orphanet:166490 Infectious disease with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015662 obsolete hemorrhagic disorder due to an acquired coagulation factor defect skos:exactMatch Orphanet:166775 Rare hemorrhagic disorder due to an acquired coagulation factor defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015668 obsolete hereditary dentin defect skos:exactMatch Orphanet:167759 Hereditary dentin defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015669 obsolete rare disease with dentinogenesis imperfecta skos:exactMatch Orphanet:167762 Rare disease with dentinogenesis imperfecta semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015673 obsolete rare cardiac tumor skos:exactMatch Orphanet:168194 Rare cardiac tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015682 obsolete primary peritoneal tumor skos:exactMatch Orphanet:168803 Primary peritoneal tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015710 obsolete immune dysregulation disease with immunodeficiency skos:exactMatch Orphanet:169361 Immune dysregulation disease with immunodeficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015765 obsolete congenital myopathy with cores skos:exactMatch Orphanet:172976 Congenital myopathy with cores semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015777 obsolete adult hypothyroidism skos:exactMatch Orphanet:177101 Rare adult hypothyroidism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015778 obsolete syndromic hypothyroidism skos:exactMatch Orphanet:177107 Syndromic hypothyroidism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015789 obsolete non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations skos:exactMatch Orphanet:178025 Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015823 obsolete primary immunodeficiency due to a defect in adaptive immunity skos:exactMatch Orphanet:179006 Primary immunodeficiency due to a defect in adaptive immunity semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015846 obsolete syndromic uterovaginal malformation skos:exactMatch Orphanet:180148 Syndromic uterovaginal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015851 obsolete rare breast malformation skos:exactMatch Orphanet:180163 Rare breast malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015852 obsolete excess breast volume or number skos:exactMatch Orphanet:180170 Excess breast volume or number semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015853 obsolete deficient breast volume or number skos:exactMatch Orphanet:180173 Deficient breast volume or number semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015857 obsolete rare non-malformative gynecologic or obstetric disease skos:exactMatch Orphanet:180199 Rare non-malformative gynecologic or obstetric disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015858 obsolete rare non-malformative breast disease skos:exactMatch Orphanet:180202 Rare non-malformative breast disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015859 obsolete rare non-malformative uterovaginal or vulvovaginal disease skos:exactMatch Orphanet:180205 Rare non-malformative uterovaginal or vulvovaginal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015860 obsolete anomaly of puberty or/and menstrual cycle skos:exactMatch Orphanet:180208 Anomaly of puberty or/and menstrual cycle semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015861 obsolete rare uterine adnexal tumor skos:exactMatch Orphanet:180220 Rare uterine adnexal tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015868 obsolete rare breast tumor skos:exactMatch Orphanet:180250 Rare breast tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015870 obsolete rare malignant breast tumor skos:exactMatch Orphanet:180257 Rare malignant breast tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015875 obsolete rare non-malformative uterine adnexal disease skos:exactMatch Orphanet:180303 Rare non-malformative uterine adnexal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015876 obsolete rare vulvovaginal tumor skos:exactMatch Orphanet:180312 Rare vulvovaginal tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015877 obsolete malformative syndrome with dentinogenesis imperfecta skos:exactMatch Orphanet:180766 Malformative syndrome with dentinogenesis imperfecta semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015879 obsolete non-syndromic diaphragmatic or thoracic malformation skos:exactMatch Orphanet:180776 Non-syndromic diaphragmatic or thoracic malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015880 obsolete syndromic diaphragmatic or thoracic malformation skos:exactMatch Orphanet:180779 Syndromic diaphragmatic or thoracic malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015881 obsolete gastroesophageal tumor skos:exactMatch Orphanet:180821 Rare gastroesophageal tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015886 obsolete rare diabetes mellitus type 1 skos:exactMatch Orphanet:181371 Rare diabetes mellitus type 1 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015887 obsolete rare diabetes mellitus type 2 skos:exactMatch Orphanet:181376 Rare diabetes mellitus type 2 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015889 obsolete rare hypothalamic or pituitary disease skos:exactMatch Orphanet:181384 Rare hypothalamic or pituitary disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015890 obsolete rare disorder with congenital hypogonadotropic hypogonadism skos:exactMatch Orphanet:181387 Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015891 obsolete hypogonadotropic hypogonadism associated with other endocrinopathies skos:exactMatch Orphanet:181390 Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015893 obsolete rare hypothyroidism skos:exactMatch Orphanet:181396 Rare hypothyroidism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015894 obsolete rare hyperthyroidism skos:exactMatch Orphanet:181399 Rare hyperthyroidism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015896 obsolete rare hypoparathyroidism skos:exactMatch Orphanet:181405 Rare hypoparathyroidism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015897 obsolete rare hyperparathyroidism skos:exactMatch Orphanet:181408 Rare hyperparathyroidism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015899 obsolete rare primary hyperaldosteronism skos:exactMatch Orphanet:181415 Rare primary hyperaldosteronism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015901 obsolete rare inherited hyperlipidemia skos:exactMatch Orphanet:181422 Rare hyperlipidemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015906 obsolete rare disorder with hypergonadotropic hypogonadism skos:exactMatch Orphanet:181441 Rare disorder with hypergonadotropic hypogonadism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015910 obsolete rare constitutional hemolytic anemia skos:exactMatch Orphanet:182043 Rare constitutional hemolytic anemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015911 obsolete rare acquired hemolytic anemia skos:exactMatch Orphanet:182047 Rare acquired hemolytic anemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015913 obsolete rare thrombotic disease of hematologic origin skos:exactMatch Orphanet:182054 Rare thrombotic disease of hematologic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015915 obsolete cerebellar malformation skos:exactMatch Orphanet:182061 Cerebellar malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015916 obsolete rare neuroinflammatory or neuroimmunological disease skos:exactMatch Orphanet:182064 Rare neuroinflammatory or neuroimmunological disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015918 obsolete rare neurodegenerative disease skos:exactMatch Orphanet:182070 Rare neurodegenerative disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015921 obsolete ARX-related epileptic encephalopathy skos:exactMatch Orphanet:182079 ARX-related epileptic encephalopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015922 obsolete channelopathy with epilepsy skos:exactMatch Orphanet:182083 Channelopathy with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015930 obsolete respiratory malformation skos:exactMatch Orphanet:182111 Respiratory malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015931 obsolete rare urogenital tumor skos:exactMatch Orphanet:182114 Rare urogenital tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015940 obsolete rare rheumatologic disease skos:exactMatch Orphanet:182231 Rare rheumatologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015945 obsolete polymalformative genetic syndrome with increased risk of developing cancer skos:exactMatch Orphanet:183422 Polymalformative genetic syndrome with increased risk of developing cancer semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015948 obsolete rare genetic skin vascular disorder skos:exactMatch Orphanet:183478 Genetic skin vascular disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015949 obsolete rare genetic subcutaneous tissue disorder skos:exactMatch Orphanet:183484 Genetic subcutaneous tissue disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015950 obsolete inherited skin tumor skos:exactMatch Orphanet:183487 Genetic skin tumor or hamartoma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015953 obsolete genetic central nervous system and retinal vascular disease skos:exactMatch Orphanet:183503 Genetic central nervous system and retinal vascular disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015954 obsolete rare genetic headache disorder skos:exactMatch Orphanet:183509 Rare genetic headache semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015955 obsolete rare genetic epilepsy skos:exactMatch Orphanet:183512 Rare genetic epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015957 obsolete rare genetic movement disorder skos:exactMatch Orphanet:183521 Rare genetic movement disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015958 obsolete rare genetic bone disease skos:exactMatch Orphanet:183524 Rare genetic bone disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015959 obsolete inherited syndrome with bone tumors as a major feature skos:exactMatch Orphanet:183527 Genetic bone tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015960 obsolete rare genetic developmental defect during embryogenesis skos:exactMatch Orphanet:183530 Rare genetic developmental defect during embryogenesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015961 obsolete hereditary head and neck malformation skos:exactMatch Orphanet:183583 Genetic head and neck malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015963 obsolete inherited renal tumor skos:exactMatch Orphanet:183595 Genetic renal tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015966 obsolete hereditary eye tumor skos:exactMatch Orphanet:183619 Genetic eye tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015968 obsolete rare genetic hypothalamic or pituitary disease skos:exactMatch Orphanet:183628 Rare genetic hypothalamic or pituitary disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015969 obsolete rare genetic thyroid disease skos:exactMatch Orphanet:183631 Rare genetic thyroid disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015970 obsolete rare genetic parathyroid disease and phosphocalcic metabolism disorder skos:exactMatch Orphanet:183634 Rare genetic parathyroid disease and phosphocalcic metabolism disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015971 obsolete rare genetic adrenal disease skos:exactMatch Orphanet:183637 Rare genetic adrenal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015972 obsolete rare constitutional anemia skos:exactMatch Orphanet:183651 Rare constitutional anemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015980 obsolete rare genetic gynecological and obstetrical diseases skos:exactMatch Orphanet:183731 Rare genetic gynecological and obstetrical diseases semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015981 obsolete inherited gynecological tumor skos:exactMatch Orphanet:183734 Genetic gynecological tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015982 obsolete rare genetic intellectual disability skos:exactMatch Orphanet:183757 Rare genetic intellectual disability semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015984 obsolete rare genetic immune disease skos:exactMatch Orphanet:183770 Rare genetic immune disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016034 obsolete cleft lip with or without cleft palate skos:exactMatch Orphanet:1991 Cleft lip with or without cleft palate semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016054 obsolete cerebral malformation skos:exactMatch Orphanet:199633 Non-syndromic cerebral malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016055 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature skos:exactMatch Orphanet:199639 Syndrome with corpus callosum agenesis/dysgenesis as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016072 obsolete anomaly of puberty or/and menstrual cycle of genetic origin skos:exactMatch Orphanet:202940 Anomaly of puberty or/and menstrual cycle of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016104 obsolete infectious disease with peripheral neuropathy skos:exactMatch Orphanet:206613 Infectious disease with peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016109 obsolete autosomal recessive distal myopathy skos:exactMatch Orphanet:206653 Autosomal recessive distal myopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016110 obsolete non-dystrophic myopathy skos:exactMatch Orphanet:206656 Non-dystrophic myopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016114 obsolete bulbospinal muscular atrophy of childhood skos:exactMatch Orphanet:206704 Bulbospinal muscular atrophy of childhood semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016115 obsolete bulbospinal muscular atrophy of adulthood skos:exactMatch Orphanet:206707 Bulbospinal muscular atrophy of adult semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016116 obsolete generalized bulbospinal muscular atrophy skos:exactMatch Orphanet:206710 Generalized bulbospinal muscular atrophy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016118 obsolete muscular glycogenosis skos:exactMatch Orphanet:206959 Muscular glycogenosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016131 obsolete spinal muscular atrophy associated with central nervous system anomaly skos:exactMatch Orphanet:207012 Spinal muscular atrophy associated with central nervous system anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016132 obsolete rare hereditary disease with peripheral neuropathy skos:exactMatch Orphanet:207015 Rare hereditary disease with peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016133 obsolete rare hereditary metabolic disease with peripheral neuropathy skos:exactMatch Orphanet:207018 Rare hereditary metabolic disease with peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016134 obsolete rare hereditary systemic disease with peripheral neuropathy skos:exactMatch Orphanet:207021 Rare hereditary systemic disease with peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016135 obsolete rare hereditary neurologic disease with peripheral neuropathy skos:exactMatch Orphanet:207025 Rare hereditary neurologic disease with peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016137 obsolete acute and subacute inflammatory demyelinating polyneuropathy skos:exactMatch Orphanet:207038 Acute and subacute inflammatory demyelinating polyneuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016138 obsolete malignant lymphoma with peripheral neuropathy skos:exactMatch Orphanet:207046 Malignant lymphoma with peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016150 obsolete qualitative or quantitative defects of integrin alpha-7 skos:exactMatch Orphanet:207098 Qualitative or quantitative defects of integrin alpha-7 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016152 obsolete qualitative or quantitative defects of calpain skos:exactMatch Orphanet:207104 Qualitative or quantitative defects of calpain semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016154 obsolete qualitative or quantitative defects of myotubularin skos:exactMatch Orphanet:207110 Qualitative or quantitative defects of myotubularin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016157 obsolete qualitative or quantitative defects of fukutin skos:exactMatch Orphanet:207122 Qualitative or quantitative defects of fukutin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016169 obsolete chronic acquired demyelinating polyneuropathy skos:exactMatch Orphanet:208974 Chronic acquired demyelinating polyneuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016170 obsolete chronic polyradiculoneuropathy skos:exactMatch Orphanet:208978 Chronic polyradiculoneuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016172 obsolete acquired sensory ganglionopathy skos:exactMatch Orphanet:208984 Acquired sensory ganglionopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016177 obsolete systemic inflammatory disease associated with an acquired peripheral neuropathy skos:exactMatch Orphanet:209007 Systemic inflammatory disease associated with an acquired peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016178 obsolete peripheral neuropathy associated with monoclonal gammopathy skos:exactMatch Orphanet:209010 Peripheral neuropathy associated with monoclonal gammopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016179 obsolete acquired amyloid peripheral neuropathy skos:exactMatch Orphanet:209013 Acquired amyloid peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016180 obsolete hematological disease associated with an acquired peripheral neuropathy skos:exactMatch Orphanet:209016 Hematological disease associated with an acquired peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016181 obsolete solid tumor associated with an acquired peripheral neuropathy skos:exactMatch Orphanet:209019 Solid tumor associated with an acquired peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016182 obsolete qualitative or quantitative defects of protein O-mannose beta1, 2N-acetylglucosaminyltransferase skos:exactMatch Orphanet:209024 Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016183 obsolete qualitative or quantitative defects of protein glycosyltransferase-like skos:exactMatch Orphanet:209027 Qualitative or quantitative defects of protein glycosyltransferase-like semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016196 obsolete qualitative or quantitative defects of emerin skos:exactMatch Orphanet:209188 Qualitative or quantitative defects of emerin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016200 obsolete qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase skos:exactMatch Orphanet:209203 Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016221 obsolete temporomandibular joint anomaly skos:exactMatch Orphanet:210581 Temporomandibular joint anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016228 obsolete rare vascular tumor skos:exactMatch Orphanet:211237 Rare vascular tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016229 obsolete hereditary vascular anomaly skos:exactMatch Orphanet:211240 Genetic vascular anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016230 obsolete simple vascular malformation skos:exactMatch Orphanet:211243 Simple vascular malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016232 obsolete rare venous malformation skos:exactMatch Orphanet:211252 Rare venous malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016233 obsolete rare lymphatic system malformation skos:exactMatch Orphanet:211255 Rare lymphatic system anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016235 obsolete complex vascular malformation with associated anomalies skos:exactMatch Orphanet:211277 Complex vascular malformation with associated anomalies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016252 obsolete rare uterine cancer skos:exactMatch Orphanet:213564 Rare uterine cancer semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016253 obsolete rare cancer of corpus uteri skos:exactMatch Orphanet:213569 Rare cancer of corpus uteri semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016274 obsolete rare cancer of cervix uteri skos:exactMatch Orphanet:213761 Rare cancer of cervix uteri semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016320 obsolete rare hereditary thrombophilia skos:exactMatch Orphanet:217454 Rare hereditary thrombophilia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016343 obsolete unclassified cardiomyopathy skos:exactMatch Orphanet:217678 Unclassified cardiomyopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016347 obsolete rare cardiac rhythm disease skos:exactMatch Orphanet:218436 Rare cardiac rhythm disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016348 obsolete non-genetic cardiac rhythm disease skos:exactMatch Orphanet:218439 Non-genetic cardiac rhythm disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016375 obsolete acquired peripheral movement disorder skos:exactMatch Orphanet:221114 Acquired peripheral movement disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016397 obsolete lysosomal disease with epilepsy skos:exactMatch Orphanet:225681 Lysosomal disease with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016398 obsolete peroxisomal disease with epilepsy skos:exactMatch Orphanet:225686 Peroxisomal disease with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016399 obsolete amino acid or protein metabolism disease with epilepsy skos:exactMatch Orphanet:225689 Amino acid or protein metabolism disease with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016400 obsolete metal transport or utilization disorder with epilepsy skos:exactMatch Orphanet:225692 Metal transport or utilization disorder with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016401 obsolete energy metabolism disorder with epilepsy skos:exactMatch Orphanet:225696 Energy metabolism disorder with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016402 obsolete mitochondrial disease with epilepsy skos:exactMatch Orphanet:225700 Mitochondrial disease with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016403 obsolete mitochondrial disease with peripheral neuropathy skos:exactMatch Orphanet:225703 Mitochondrial disease with peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016404 obsolete metabolic neurotransmission anomaly with epilepsy skos:exactMatch Orphanet:225707 Metabolic neurotransmission anomaly with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016405 obsolete sterol metabolism disorder with epilepsy skos:exactMatch Orphanet:225710 Sterol metabolism disorder with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016406 obsolete other metabolic disease with epilepsy skos:exactMatch Orphanet:225713 Other metabolic disease with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016409 obsolete primary congenital hypothyroidism skos:exactMatch Orphanet:226295 Primary congenital hypothyroidism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016428 obsolete multiple sclerosis variant skos:exactMatch Orphanet:228145 Multiple sclerosis variant semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016434 obsolete acquired dermis elastic tissue disorder skos:exactMatch Orphanet:228218 Acquired dermis elastic tissue disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016435 obsolete acquired dermis elastic tissue disorder with decreased elastic tissue skos:exactMatch Orphanet:228221 Acquired dermis elastic tissue disorder with decreased elastic tissue semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016436 obsolete acquired dermis elastic tissue disorder with increased elastic tissue skos:exactMatch Orphanet:228224 Acquired dermis elastic tissue disorder with increased elastic tissue semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016493 obsolete variant of Guillain-Barre syndrome skos:exactMatch Orphanet:231413 Variant of Guillain-Barré syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016494 obsolete regional variant of Guillain-Barre syndrome skos:exactMatch Orphanet:231416 Regional variant of Guillain-Barré syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016495 obsolete functional variant of Guillain-Barre syndrome skos:exactMatch Orphanet:231419 Functional variant of Guillain-Barré syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016507 obsolete rare surgically correctable form of primary aldosteronism skos:exactMatch Orphanet:231637 Rare surgically correctable form of primary aldosteronism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016508 obsolete rare non surgically correctable form of primary aldosteronism skos:exactMatch Orphanet:231641 Rare non surgically correctable form of primary aldosteronism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016517 obsolete rare genetic vascular disease skos:exactMatch Orphanet:233655 Rare genetic vascular disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016518 obsolete isolated punctate palmoplantar keratoderma skos:exactMatch Orphanet:2338 Isolated punctate palmoplantar keratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016524 obsolete congenital vascular bone syndrome skos:exactMatch Orphanet:235832 Congenital vascular bone syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016565 obsolete syndromic genetic obesity skos:exactMatch Orphanet:240371 Syndromic obesity semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016578 obsolete mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies skos:exactMatch Orphanet:2443 Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016579 obsolete dominant hypophosphatemia with nephrolithiasis or osteoporosis skos:exactMatch Orphanet:244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016623 obsolete rare deficiency anemia skos:exactMatch Orphanet:248293 Rare deficiency anemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016627 obsolete rare hemorrhagic disorder skos:exactMatch Orphanet:248308 Rare hemorrhagic disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016628 obsolete hemorrhagic disorder due to a coagulation factors defect skos:exactMatch Orphanet:248315 Rare hemorrhagic disorder due to a coagulation factors defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016629 obsolete hemorrhagic disorder due to a platelet anomaly skos:exactMatch Orphanet:248326 Rare hemorrhagic disorder due to a platelet anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016631 obsolete hemorrhagic disorder due to an acquired platelet anomaly skos:exactMatch Orphanet:248347 Rare hemorrhagic disorder due to an acquired platelet anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016632 obsolete thrombotic disorder due to a coagulation factors defect skos:exactMatch Orphanet:248358 Rare thrombotic disorder due to a coagulation factors defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016633 obsolete thrombotic disorder due to a constitutional coagulation factors defect skos:exactMatch Orphanet:248361 Rare thrombotic disorder due to a constitutional coagulation factors defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016634 obsolete thrombotic disorder due to an acquired coagulation factors defect skos:exactMatch Orphanet:248365 Rare thrombotic disorder due to an acquired coagulation factors defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016635 obsolete thrombotic disorder due to a platelet anomaly skos:exactMatch Orphanet:248368 Rare thrombotic disorder due to a platelet anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016636 obsolete thrombotic disorder due to a constitutional platelet anomaly skos:exactMatch Orphanet:248401 Rare thrombotic disorder due to a constitutional platelet anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016637 obsolete thrombotic disorder due to an acquired platelet anomaly skos:exactMatch Orphanet:248404 Rare thrombotic disorder due to an acquired platelet anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016645 obsolete rare neoplastic disease skos:exactMatch Orphanet:250908 Rare neoplastic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016678 obsolete maternal disease-related embryofetopathy skos:exactMatch Orphanet:251535 Maternal disease-related embryofetopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016679 obsolete rare tumor of neuroepithelial tissue skos:exactMatch Orphanet:251558 Rare tumor of neuroepithelial tissue semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016701 obsolete oligoastrocytic tumor skos:exactMatch Orphanet:251651 Oligoastrocytic tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016704 obsolete glial tumor of neuroepithelial tissue with unknown origin skos:exactMatch Orphanet:251668 Glial tumor of neuroepithelial tissue with unknown origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016708 obsolete embryonal tumor of neuroepithelial tissue skos:exactMatch Orphanet:251852 Embryonal tumor of neuroepithelial tissue semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016721 obsolete pineal tumor of neuroepithelial tissue skos:exactMatch Orphanet:251905 Pineal tumor of neuroepithelial tissue semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016726 obsolete neuronal tumor skos:exactMatch Orphanet:251924 Neuronal tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016744 obsolete primary melanocytic tumor of central nervous system skos:exactMatch Orphanet:252028 Primary melanocytic tumor of central nervous system semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016756 obsolete inherited nervous system cancer-predisposing syndrome skos:exactMatch Orphanet:252190 Inherited nervous system cancer-predisposing syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016767 obsolete cutaneous lichen planus skos:exactMatch Orphanet:254370 Rare cutaneous lichen planus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016768 obsolete rare mucosal lichen planus skos:exactMatch Orphanet:254373 Rare mucosal lichen planus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016788 obsolete genetic hyperferritinemia without iron overload skos:exactMatch Orphanet:254704 Genetic hyperferritinemia without iron overload semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016791 obsolete mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies skos:exactMatch Orphanet:254758 Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016792 obsolete mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA skos:exactMatch Orphanet:254767 Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016793 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA skos:exactMatch Orphanet:254776 Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016794 obsolete maternally-inherited mitochondrial myopathy skos:exactMatch Orphanet:254788 Mitochondrial DNA-related mitochondrial myopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016799 obsolete mitochondrial oxidative phosphorylation disorder with no known mechanism skos:exactMatch Orphanet:254822 Mitochondrial oxidative phosphorylation disorder with no known mechanism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016803 obsolete unspecified inborn mitochondrial disorder skos:exactMatch Orphanet:254837 Unspecified mitochondrial disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016805 obsolete isolated oxidative phosphorylation complex disorder skos:exactMatch Orphanet:254846 Isolated oxidative phosphorylation complex disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016998 obsolete complex chromosomal rearrangement skos:exactMatch Orphanet:263708 Complex chromosomal rearrangement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016999 obsolete X chromosome number anomaly skos:exactMatch Orphanet:263714 X chromosome number anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017000 obsolete X chromosome number anomaly with female phenotype skos:exactMatch Orphanet:263717 X chromosome number anomaly with female phenotype semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017001 obsolete X chromosome number anomaly with male phenotype skos:exactMatch Orphanet:263720 X chromosome number anomaly with male phenotype semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017002 obsolete polysomy of X chromosome skos:exactMatch Orphanet:263723 Polysomy of X chromosome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017005 obsolete Y chromosome number anomaly skos:exactMatch Orphanet:263746 Y chromosome number anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017006 obsolete X and Y chromosomal anomaly skos:exactMatch Orphanet:263749 X and Y chromosomal anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017011 obsolete uniparental disomy of chromosome X skos:exactMatch Orphanet:263793 Uniparental disomy of chromosome X semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017085 obsolete malformation of the neurenteric canal, spinal cord and column skos:exactMatch Orphanet:268843 Malformation of the neurenteric canal, spinal cord and column semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017090 obsolete midline cerebral malformation skos:exactMatch Orphanet:268926 Midline cerebral malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017104 obsolete central nervous system cystic malformation skos:exactMatch Orphanet:269194 Central nervous system cystic malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017114 obsolete global cerebellar malformation skos:exactMatch Orphanet:269224 Global cerebellar malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017118 obsolete syndrome with a cerebellar malformation as major feature skos:exactMatch Orphanet:269523 Syndrome with a cerebellar malformation as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017121 obsolete syndrome with a Dandy-Walker malformation as major feature skos:exactMatch Orphanet:269546 Syndrome with a Dandy-Walker malformation as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017122 obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature skos:exactMatch Orphanet:269573 Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017127 obsolete inherited soft tissue tumor skos:exactMatch Orphanet:271832 Genetic soft tissue tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017128 obsolete inherited digestive tract tumor skos:exactMatch Orphanet:271835 Genetic digestive tract tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017129 obsolete inherited cardiac tumor skos:exactMatch Orphanet:271841 Genetic cardiac tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017130 obsolete genetic urogenital tumor skos:exactMatch Orphanet:271844 Genetic urogenital tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017131 obsolete hereditary cardiac anomaly skos:exactMatch Orphanet:271853 Genetic cardiac anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017141 obsolete hemorrhagic disorder due to a constitutional thrombocytopenia skos:exactMatch Orphanet:275729 Rare hemorrhagic disorder due to a constitutional thrombocytopenia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017142 obsolete hemorrhagic disorder due to a qualitative platelet defect skos:exactMatch Orphanet:275736 Rare hemorrhagic disorder due to a qualitative platelet defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017143 obsolete genetic infertility skos:exactMatch Orphanet:275742 Genetic infertility semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017158 obsolete pulmonary hypertension with unclear multifactorial mechanism skos:exactMatch Orphanet:275844 Pulmonary hypertension with unclear multifactorial mechanism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017159 obsolete syndrome with pulmonary hypertension as a major feature skos:exactMatch Orphanet:275853 Syndrome with pulmonary hypertension as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017166 obsolete rare tumor of salivary glands skos:exactMatch Orphanet:276142 Rare tumor of salivary glands semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017234 obsolete inherited prion disease skos:exactMatch Orphanet:280400 Inherited human prion disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017259 obsolete systemic diseases with anterior uveitis skos:exactMatch Orphanet:280926 Systemic diseases with anterior uveitis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017260 obsolete systemic diseases with posterior uveitis skos:exactMatch Orphanet:280930 Systemic diseases with posterior uveitis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017261 obsolete systemic diseases with panuveitis skos:exactMatch Orphanet:280933 Systemic diseases with panuveitis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017262 obsolete inherited non-syndromic ichthyosis skos:exactMatch Orphanet:281082 Inherited non-syndromic ichthyosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017270 obsolete autosomal ichthyosis syndrome skos:exactMatch Orphanet:281217 Autosomal ichthyosis syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017271 obsolete autosomal ichthyosis syndrome with prominent hair abnormalities skos:exactMatch Orphanet:281222 Autosomal ichthyosis syndrome with prominent hair abnormalities semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017272 obsolete autosomal ichthyosis syndrome with prominent neurologics signs skos:exactMatch Orphanet:281238 Autosomal ichthyosis syndrome with prominent neurologic signs semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017273 obsolete autosomal ichthyosis syndrome with fatal disease course skos:exactMatch Orphanet:281241 Autosomal ichthyosis syndrome with fatal disease course semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017302 obsolete qualitative or quantitative defects of troponin skos:exactMatch Orphanet:284786 Qualitative or quantitative defects of troponin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017311 obsolete rare disease with thoracic aortic aneurysm and aortic dissection skos:exactMatch Orphanet:285014 Rare disease with thoracic aortic aneurysm and aortic dissection semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017368 obsolete systemic disease with skin involvement skos:exactMatch Orphanet:290836 Systemic disease with skin involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017369 obsolete autoinflammatory syndrome with immune deficiency skos:exactMatch Orphanet:290839 Autoinflammatory syndrome with immune deficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017370 obsolete autoinflammatory syndrome with skin involvement skos:exactMatch Orphanet:290842 Autoinflammatory syndrome with skin involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017371 obsolete rare head and neck tumor skos:exactMatch Orphanet:290849 Rare head and neck tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017390 obsolete methylmalonic acidemia without homocystinuria skos:exactMatch Orphanet:293355 Methylmalonic acidemia without homocystinuria semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017397 obsolete constitutional dyserythropoietic anemia skos:exactMatch Orphanet:293830 Constitutional dyserythropoietic anemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017414 obsolete rare nevus skos:exactMatch Orphanet:294057 Rare nevus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017420 obsolete intercalary limb defects skos:exactMatch Orphanet:294927 Non-syndromic intercalary limb defects semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017429 obsolete joint formation defects skos:exactMatch Orphanet:294949 Non-syndromic joint formation defects semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017431 obsolete non-syndromic limb overgrowth skos:exactMatch Orphanet:294953 Non-syndromic limb overgrowth semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017432 obsolete syndrome with limb reduction defects skos:exactMatch Orphanet:294955 Syndrome with limb reduction defects semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017633 obsolete rare intoxication due to medical products skos:exactMatch Orphanet:306640 Rare intoxication due to medical products semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017635 obsolete parkinsonian syndrome due to neurodegenerative disease skos:exactMatch Orphanet:306666 Rare parkinsonian syndrome due to neurodegenerative disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017637 obsolete rare parkinsonian syndrome due to intoxication skos:exactMatch Orphanet:306679 Rare parkinsonian syndrome due to intoxication semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017641 obsolete miscellaneous movement disorder due to neurodegenerative disease skos:exactMatch Orphanet:306695 Miscellaneous movement disorder due to neurodegenerative disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017643 obsolete frontotemporal neurodegeneration with movement disorder skos:exactMatch Orphanet:306708 Frontotemporal neurodegeneration with movement disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017644 obsolete rare tremor disorder skos:exactMatch Orphanet:306712 Rare tremor disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017645 obsolete rare choreic movement disorder skos:exactMatch Orphanet:306715 Rare choreic movement disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017646 obsolete neurodegenerative disease with chorea skos:exactMatch Orphanet:306719 Neurodegenerative disease with chorea semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017647 obsolete postinfectious autoimmune disease with chorea skos:exactMatch Orphanet:306727 Postinfectious autoimmune disease with chorea semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017650 obsolete rare myoclonus skos:exactMatch Orphanet:306747 Rare myoclonus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017651 obsolete primary myoclonus skos:exactMatch Orphanet:306750 Primary myoclonus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017652 obsolete rare disease with myoclonus as a major feature skos:exactMatch Orphanet:306753 Rare disease with myoclonus as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017653 obsolete epilepsy and/or ataxia with myoclonus as major feature skos:exactMatch Orphanet:306756 Epilepsy and/or ataxia with myoclonus as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017654 obsolete non progressive epilepsy and/or ataxia with myoclonus as a major feature skos:exactMatch Orphanet:306759 Non progressive epilepsy and/or ataxia with myoclonus as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017656 obsolete motor stereotypies skos:exactMatch Orphanet:306765 Motor stereotypies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017657 obsolete rare paroxysmal movement disorder skos:exactMatch Orphanet:306768 Rare paroxysmal movement disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017660 obsolete rare genetic parkinsonian disorder skos:exactMatch Orphanet:307052 Rare genetic parkinsonian disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017661 obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease skos:exactMatch Orphanet:307055 Rare parkinsonian syndrome due to genetic neurodegenerative disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017662 obsolete miscellaneous movement disorder due to genetic neurodegenerative disease skos:exactMatch Orphanet:307058 Miscellaneous movement disorder due to genetic neurodegenerative disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017663 obsolete inherited tremor disorder skos:exactMatch Orphanet:307061 Rare genetic tremor disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017663 obsolete inherited tremor disorder skos:exactMatch Orphanet:307064 Rare genetic myoclonus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017665 obsolete rare genetic disease with myoclonus as a major feature skos:exactMatch Orphanet:307067 Rare genetic disease with myoclonus as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017667 obsolete isolated diffuse palmoplantar keratoderma skos:exactMatch Orphanet:307148 Isolated diffuse palmoplantar keratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017669 obsolete disease with diffuse palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:307711 Disease with diffuse palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017670 obsolete autosomal dominant diffuse mutilating palmoplantar keratoderma skos:exactMatch Orphanet:307773 Autosomal dominant diffuse mutilating palmoplantar keratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017671 obsolete autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:307804 Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017673 obsolete isolated focal palmoplantar keratoderma skos:exactMatch Orphanet:307846 Isolated focal palmoplantar keratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017674 obsolete disease with focal palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:307871 Disease with focal palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017678 obsolete obsolete disease with punctate palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:308023 Disease with punctate palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017679 obsolete obsolete autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:308031 Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017680 obsolete autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:308041 Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017710 obsolete congenital systemic veins anomaly skos:exactMatch Orphanet:3091 Congenital systemic veins anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017717 obsolete metabolic disease due to other fatty acid oxidation disorder skos:exactMatch Orphanet:309133 Metabolic disease due to other fatty acid oxidation disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017718 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes skos:exactMatch Orphanet:309136 Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017742 obsolete disorder of O-xylosylglycan synthesis skos:exactMatch Orphanet:309450 Disorder of O-xylosylglycan synthesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017743 obsolete disorder of O-N-acetylgalactosaminylglycan synthesis skos:exactMatch Orphanet:309458 Disorder of O-N-acetylgalactosaminylglycan synthesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017744 obsolete disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis skos:exactMatch Orphanet:309463 Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017745 obsolete disorder of O-mannosylglycan synthesis skos:exactMatch Orphanet:309469 Disorder of O-mannosylglycan synthesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017760 obsolete disorder of other vitamins and cofactors metabolism and transport skos:exactMatch Orphanet:309833 Disorder of other vitamins and cofactors metabolism and transport semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017797 obsolete rare odontologic tumor skos:exactMatch Orphanet:314425 Rare odontogenic tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017820 obsolete obsolete disease with Cushing syndrome as a major feature skos:exactMatch Orphanet:314749 Rare disease with adrenal Cushing syndrome as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017841 obsolete autoimmune disease with skin involvement skos:exactMatch Orphanet:315350 Autoimmune disease with skin involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017891 obsolete inherited renal cancer-predisposing syndrome skos:exactMatch Orphanet:319328 Inherited renal cancer-predisposing syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017897 obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency skos:exactMatch Orphanet:319535 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017898 obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency skos:exactMatch Orphanet:319539 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017899 obsolete autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency skos:exactMatch Orphanet:319543 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017912 obsolete X-linked pure spastic paraplegia skos:exactMatch Orphanet:320332 X-linked pure spastic paraplegia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017914 obsolete pure or complex autosomal dominant spastic paraplegia skos:exactMatch Orphanet:320342 Pure or complex autosomal dominant spastic paraplegia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017915 obsolete pure or complex autosomal recessive spastic paraplegia skos:exactMatch Orphanet:320346 Pure or complex autosomal recessive spastic paraplegia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017916 obsolete pure or complex X-linked spastic paraplegia skos:exactMatch Orphanet:320350 Pure or complex X-linked spastic paraplegia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017954 obsolete pyogenic autoinflammatory syndrome skos:exactMatch Orphanet:324927 Pyogenic autoinflammatory syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017955 obsolete granulomatous autoinflammatory syndrome skos:exactMatch Orphanet:324930 Granulomatous autoinflammatory syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017956 obsolete mixed autoinflammatory and autoimmune syndrome skos:exactMatch Orphanet:324933 Mixed autoinflammatory and autoimmune syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017957 obsolete unclassified autoinflammatory syndrome skos:exactMatch Orphanet:324936 Unclassified autoinflammatory syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017961 obsolete 46,XX disorder of gonadal development skos:exactMatch Orphanet:325055 46,XX disorder of gonadal development semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017962 obsolete 46,XX disorder of sex development induced by fetoplacental androgens excess skos:exactMatch Orphanet:325061 46,XX difference of sex development induced by fetoplacental androgens excess semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017963 obsolete 46,XX disorder of sex development induced by endogenous maternal-derived androgen skos:exactMatch Orphanet:325093 46,XX difference of sex development induced by endogenous maternal-derived androgen semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017964 obsolete 46,XX disorder of sex development induced by exogenous maternal-derived androgen skos:exactMatch Orphanet:325099 46,XX difference of sex development induced by exogenous maternal-derived androgen semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017965 obsolete syndrome with 46,XX disorder of sex development skos:exactMatch Orphanet:325109 Syndrome with 46,XX difference of sex development semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017966 obsolete 46,XY disorder of gonadal development skos:exactMatch Orphanet:325118 46,XY disorder of gonadal development semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017969 obsolete 46,XY disorder of sex development of endocrine origin skos:exactMatch Orphanet:325351 46,XY difference of sex development of endocrine origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017976 obsolete disorder of sex development of gynecological interest skos:exactMatch Orphanet:325620 Difference of sex development of gynecological interest semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017977 obsolete 46,XY disorder of sex development of gynecological interest skos:exactMatch Orphanet:325632 46,XY difference of sex development of gynecological interest semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017978 obsolete syndrome with disorder of sex development of gynecological interest skos:exactMatch Orphanet:325638 Syndrome with difference of sex development of gynecological interest semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018033 obsolete other immunodeficiency syndromes due to defects in innate immunity skos:exactMatch Orphanet:331193 Other immunodeficiency syndromes due to defects in innate immunity semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018035 obsolete syndrome with combined immunodeficiency skos:exactMatch Orphanet:331217 Syndrome with combined immunodeficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018036 obsolete immunodeficiency due to absence of thymus skos:exactMatch Orphanet:331220 Syndome with combined immunodeficiency due to thymic defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018038 obsolete immunodeficiency with isotype or light chain deficiencies with normal number of B-cells skos:exactMatch Orphanet:331232 Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018041 obsolete other immunodeficiency syndrome with predominantly antibody defects skos:exactMatch Orphanet:331244 Other immunodeficiency syndrome with predominantly antibody defects semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018118 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement skos:exactMatch Orphanet:352306 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018119 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement skos:exactMatch Orphanet:352309 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018120 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement skos:exactMatch Orphanet:352312 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018157 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis skos:exactMatch Orphanet:35696 Mitochondrial disorder due to a defect in mitochondrial protein synthesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018185 obsolete congenital anomaly of the great veins skos:exactMatch Orphanet:363189 Congenital anomaly of the great veins semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018187 obsolete hereditary syndromic Pierre Robin syndrome skos:exactMatch Orphanet:363294 Genetic syndromic Pierre Robin syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018188 obsolete hereditary intestinal polyposis skos:exactMatch Orphanet:363314 Genetic intestinal polyposis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018191 obsolete tumor of testis and paratestis skos:exactMatch Orphanet:363472 Tumor of testis and paratestis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018200 obsolete acute encephalopathy with inflammation-mediated status epilepticus skos:exactMatch Orphanet:363567 Acute encephalopathy with inflammation-mediated status epilepticus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018231 obsolete primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments skos:exactMatch Orphanet:364531 Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018232 obsolete primary bone dysplasia with micromelia skos:exactMatch Orphanet:364536 Primary bone dysplasia with micromelia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018235 obsolete dysostosis with limb anomaly as a major feature skos:exactMatch Orphanet:364568 Dysostosis with limb anomaly as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018236 obsolete dysostosis with limb and face anomalies as a major feature skos:exactMatch Orphanet:364571 Dysostosis with limb and face anomalies as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018246 obsolete homozygous 2p21 microdeletion syndrome skos:exactMatch Orphanet:369886 Homozygous 2p21 microdeletion syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018262 obsolete fetal anticonvulsant syndrome skos:exactMatch Orphanet:370068 Fetal anticonvulsant syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018265 obsolete rare disorder with dystonia and other neurologic or systemic manifestation skos:exactMatch Orphanet:370106 Rare disorder with dystonia and other neurologic or systemic manifestation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018283 obsolete primary qualitative or quantitative defects of alpha-dystroglycan skos:exactMatch Orphanet:371040 Primary qualitative or quantitative defects of alpha-dystroglycan semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018284 obsolete congenital disorder of glycosylation with neurological involvement skos:exactMatch Orphanet:371047 Congenital disorder of glycosylation with neurological involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018287 obsolete congenital disorder of glycosylation with epilepsy as a major feature skos:exactMatch Orphanet:371071 Congenital disorder of glycosylation with epilepsy as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018288 obsolete congenital disorder of glycosylation with hepatic involvement skos:exactMatch Orphanet:371157 Congenital disorder of glycosylation with hepatic involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018290 obsolete congenital disorder of glycosylation with cardiac malformation as a major feature skos:exactMatch Orphanet:371183 Congenital disorder of glycosylation with cardiac malformation as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018291 obsolete congenital disorder of glycosylation with intestinal involvement skos:exactMatch Orphanet:371188 Congenital disorder of glycosylation with intestinal involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018292 obsolete congenital disorder of glycosylation-related bone disorder skos:exactMatch Orphanet:371195 Congenital disorder of glycosylation-related bone disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018293 obsolete congenital disorder of glycosylation with skin involvement skos:exactMatch Orphanet:371200 Congenital disorder of glycosylation with skin involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018294 obsolete congenital disorder of glycosylation with nephropathy as a major feature skos:exactMatch Orphanet:371207 Congenital disorder of glycosylation with nephropathy as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018295 obsolete congenital disorder of glycosylation with deafness as a major feature skos:exactMatch Orphanet:371212 Congenital disorder of glycosylation with deafness as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018296 obsolete congenital disorder of glycosylation with developmental anomaly skos:exactMatch Orphanet:371235 Congenital disorder of glycosylation with developmental anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018299 obsolete sphingolipidosis with epilepsy skos:exactMatch Orphanet:371442 Sphingolipidosis with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018318 obsolete disorder of asparagine metabolism skos:exactMatch Orphanet:391381 Disorder of asparagine metabolism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018329 obsolete persistent combined dystonia skos:exactMatch Orphanet:391711 Persistent combined dystonia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018377 obsolete rare hereditary disease with avascular necrosis skos:exactMatch Orphanet:399185 Rare hereditary disease with avascular necrosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018384 obsolete avascular necrosis of genetic origin skos:exactMatch Orphanet:399388 Avascular necrosis of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018385 obsolete osteochondrosis of genetic origin skos:exactMatch Orphanet:399391 Osteochondrosis of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018386 obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder skos:exactMatch Orphanet:399572 Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018387 obsolete rare male infertility due to adrenal disorder skos:exactMatch Orphanet:399584 Rare male infertility due to adrenal disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018388 obsolete rare male infertility due to testicular endocrine disorder skos:exactMatch Orphanet:399685 Rare male infertility due to testicular endocrine disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018389 obsolete male infertility due to gonadal dysgenesis or sperm disorder skos:exactMatch Orphanet:399764 Male infertility due to gonadal dysgenesis or sperm disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018390 obsolete male infertility due to sperm disorder skos:exactMatch Orphanet:399771 Male infertility due to sperm disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018391 obsolete male infertility with spermatogenesis disorder skos:exactMatch Orphanet:399775 Male infertility with spermatogenesis disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018392 obsolete male infertility with spermatogenesis disorder due to single gene mutation skos:exactMatch Orphanet:399786 Male infertility with spermatogenesis disorder due to single gene mutation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018395 obsolete male infertility due to sperm motility disorder skos:exactMatch Orphanet:399813 Male infertility due to sperm motility disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018396 obsolete rare male fertility disorder with obstructive azoospermia skos:exactMatch Orphanet:399824 Rare disorder with obstructive azoospermia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018397 obsolete female infertility due to hypothalamic-pituitary-gonadal axis disorder skos:exactMatch Orphanet:399831 Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018398 obsolete female infertility due to a congenital hypogonadotropic hypogonadism skos:exactMatch Orphanet:399839 Rare female infertility due to a congenital hypogonadotropic hypogonadism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018400 obsolete rare female infertility due to an adrenal disorder skos:exactMatch Orphanet:399849 Rare female infertility due to an adrenal disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018401 obsolete female infertility due to an anomaly of ovarian function skos:exactMatch Orphanet:399853 Rare female infertility due to an anomaly of ovarian function semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018402 obsolete female infertility due to gonadal dysgenesis skos:exactMatch Orphanet:399877 Rare female infertility due to gonadal dysgenesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018403 obsolete female infertility due to an implantation defect skos:exactMatch Orphanet:399882 Rare female infertility due to an implantation defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018404 obsolete rare genetic male infertility skos:exactMatch Orphanet:399980 Rare genetic male infertility semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018405 obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin skos:exactMatch Orphanet:399983 Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018406 obsolete rare male infertility due to adrenal disorder of genetic origin skos:exactMatch Orphanet:399994 Rare male infertility due to adrenal disorder of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018407 obsolete male infertility due to obstructive azoospermia of genetic origin skos:exactMatch Orphanet:399998 Male infertility due to obstructive azoospermia of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018409 obsolete rare genetic disorder with obstructive azoospermia skos:exactMatch Orphanet:400003 Rare genetic disorder with obstructive azoospermia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018410 obsolete rare genetic female infertility skos:exactMatch Orphanet:400008 Rare genetic female infertility semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018411 obsolete rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin skos:exactMatch Orphanet:400011 Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018412 obsolete rare female infertility due to adrenal disorder of genetic origin skos:exactMatch Orphanet:400018 Rare female infertility due to adrenal disorder of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018413 obsolete female infertility due to an anomaly of ovarian function of genetic origin skos:exactMatch Orphanet:400022 Rare female infertility due to an anomaly of ovarian function of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018414 obsolete female infertility due to an implantation defect of genetic origin skos:exactMatch Orphanet:400025 Female infertility due to an implantation defect of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018444 obsolete female infertility due to fertilization defect skos:exactMatch Orphanet:404469 Rare female infertility due to oocyte maturation defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018451 obsolete X-linked distal hereditary motor neuropathy skos:exactMatch Orphanet:404538 X-linked distal hereditary motor neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018454 obsolete dysostosis of genetic origin skos:exactMatch Orphanet:404568 Dysostosis of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018455 obsolete dysostosis of genetic origin with limb anomaly as a major feature skos:exactMatch Orphanet:404571 Dysostosis of genetic origin with limb anomaly as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018457 obsolete rare genetic bone development disorder skos:exactMatch Orphanet:404584 Rare genetic bone development disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018488 obsolete rare genetic odontal or periodontal disorder skos:exactMatch Orphanet:420755 Rare genetic odontal or periodontal disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018496 obsolete ARX-related encephalopathy-brain malformation spectrum skos:exactMatch Orphanet:423655 ARX-related encephalopathy-brain malformation spectrum semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018497 obsolete rare autonomic nervous system disorder skos:exactMatch Orphanet:423662 Rare autonomic nervous system disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018501 obsolete rare carcinoma of stomach skos:exactMatch Orphanet:423771 Rare carcinoma of stomach semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018520 obsolete rare epithelial tumor of pancreas skos:exactMatch Orphanet:424033 Rare epithelial tumor of pancreas semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018529 obsolete qualitative or quantitative defects of Torsin-1A-interacting protein 1 skos:exactMatch Orphanet:424925 Qualitative or quantitative defects of Torsin-1A-interacting protein 1 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018538 obsolete inherited digestive cancer-predisposing syndrome skos:exactMatch Orphanet:425003 Inherited digestive cancer-predisposing syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018545 obsolete primary immunodeficiency with predisposition to severe viral infection skos:exactMatch Orphanet:431156 Primary immunodeficiency with predisposition to severe viral infection semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018549 obsolete late-onset scapuloperoneal muscular dystrophy with hyaline bodies skos:exactMatch Orphanet:431263 Late-onset scapuloperoneal muscular dystrophy with hyaline bodies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018550 obsolete spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder skos:exactMatch Orphanet:431320 Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018557 obsolete rare genetic autonomic nervous system disorder skos:exactMatch Orphanet:434786 Rare genetic autonomic nervous system disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018558 obsolete syndrome with wooly hair skos:exactMatch Orphanet:434809 Syndrome with woolly hair semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018562 obsolete hereditary otorhinolaryngological malformation skos:exactMatch Orphanet:435603 Genetic otorhinolaryngological malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018579 obsolete disorder of ketone body transport skos:exactMatch Orphanet:438072 Disorder of keton body transport semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018609 obsolete syndromic hereditary optic neuropathy skos:exactMatch Orphanet:441434 Syndromic hereditary optic neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018652 obsolete biological anomaly without phenotypic characterization skos:exactMatch Orphanet:447874 Biological anomaly without phenotypic characterization semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018701 obsolete congenital nemaline myopathy skos:exactMatch Orphanet:457074 Congenital nemaline myopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018719 obsolete obsolete rare capillary malformation with associated anomalies skos:exactMatch Orphanet:458830 Rare capillary malformation with associated anomalies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018720 obsolete common cystic lymphatic malformation skos:exactMatch Orphanet:458833 Common cystic lymphatic malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018721 obsolete rare combined vascular malformation skos:exactMatch Orphanet:458837 Rare combined vascular malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018723 obsolete rare vascular malformation of major vessels skos:exactMatch Orphanet:458844 Rare vascular malformation of major vessels semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018727 obsolete immunodeficiency due to a complement regulatory deficiency skos:exactMatch Orphanet:459348 Immunodeficiency due to a complement regulatory deficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018728 obsolete rare genetic capillary malformation skos:exactMatch Orphanet:459526 Rare genetic capillary malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018729 obsolete genetic vascular tumor skos:exactMatch Orphanet:459543 Rare genetic vascular tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018730 obsolete rare genetic venous malformation skos:exactMatch Orphanet:459548 Rare genetic venous malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018731 obsolete lethal multiple congenital anomalies/dysmorphic syndrome skos:exactMatch Orphanet:459787 Lethal multiple congenital anomalies/dysmorphic syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018743 obsolete immune-mediated acquired neuromuscular junction disease skos:exactMatch Orphanet:464764 Immune-mediated acquired neuromuscular junction disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018753 obsolete rare disease with malignant hyperthermia skos:exactMatch Orphanet:466658 Rare disease with malignant hyperthermia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018771 obsolete congenital anomaly of ventricular septum skos:exactMatch Orphanet:474347 Rare congenital anomaly of ventricular septum semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018775 obsolete axonal hereditary motor and sensory neuropathy skos:exactMatch Orphanet:476109 Axonal hereditary motor and sensory neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018779 obsolete hypercontractile muscle stiffness syndrome skos:exactMatch Orphanet:476403 Hypercontractile muscle stiffness syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018787 obsolete genetic cerebral small vessel disease skos:exactMatch Orphanet:477754 Genetic cerebral small vessel disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018788 obsolete COL4A1 or COL4A2-related cerebral small vessel disease skos:exactMatch Orphanet:477759 COL4A1 or COL4A2-related cerebral small vessel disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018789 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency skos:exactMatch Orphanet:477762 COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018790 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency skos:exactMatch Orphanet:477765 COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018791 obsolete Moyomoya angiopathy skos:exactMatch Orphanet:477768 Moyamoya angiopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018792 obsolete Moyamoya syndrome skos:exactMatch Orphanet:477771 Rare disorder with a moyamoya angiopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018796 obsolete isolated constitutional thrombocytopenia skos:exactMatch Orphanet:477797 Isolated constitutional thrombocytopenia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018797 obsolete genetic cardiac malformation skos:exactMatch Orphanet:477805 Genetic cardiac malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018799 obsolete rare hypercholesterolemia skos:exactMatch Orphanet:477811 Rare hypercholesterolemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018831 obsolete HTRA1-related cerebral small vessel disease skos:exactMatch Orphanet:482072 HTRA1-related cerebral small vessel disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018833 obsolete rare idiopathic macular telangiectasia skos:exactMatch Orphanet:482092 Rare idiopathic macular telangiectasia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018880 obsolete rare teratologic disease skos:exactMatch Orphanet:52662 Rare teratologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018928 obsolete rare hepatic disease skos:exactMatch Orphanet:57146 Rare hepatic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018972 obsolete rare epithelial tumor of stomach skos:exactMatch Orphanet:63443 Rare epithelial tumor of stomach semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019038 obsolete rare maxillo-facial surgical disease skos:exactMatch Orphanet:68329 Rare maxillo-facial surgical disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019039 obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect skos:exactMatch Orphanet:68334 Rare hemorrhagic disorder due to a constitutional coagulation factors defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019041 obsolete rare genetic inherited tumor skos:exactMatch Orphanet:68336 Rare genetic tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019043 obsolete rare genetic skin disease skos:exactMatch Orphanet:68346 Rare genetic skin disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019044 obsolete tumor of hematopoietic and lymphoid tissues skos:exactMatch Orphanet:68347 Tumor of hematopoietic and lymphoid tissues semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019047 obsolete rare deafness skos:exactMatch Orphanet:68361 Rare deafness semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019048 obsolete rare vascular disease skos:exactMatch Orphanet:68362 Rare vascular disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019049 obsolete rare dystonia skos:exactMatch Orphanet:68363 Rare dystonia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019058 obsolete neurometabolic disease skos:exactMatch Orphanet:68385 Neurometabolic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019059 obsolete rare parkinsonian disorder skos:exactMatch Orphanet:68402 Rare parkinsonian disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019061 obsolete rare parathyroid disease and phosphocalcic metabolism anomaly skos:exactMatch Orphanet:68415 Rare parathyroid disease and phosphocalcic metabolism anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019062 obsolete rare infectious disease skos:exactMatch Orphanet:68416 Rare infectious disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019063 obsolete vascular anomaly skos:exactMatch Orphanet:68419 Rare vascular anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019066 obsolete syndrome with brachydactyly skos:exactMatch Orphanet:69028 Dysostosis with brachydactyly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019096 obsolete rare pulmonary hypertension skos:exactMatch Orphanet:71198 Rare pulmonary hypertension semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019097 obsolete hemorrhagic disorder due to a constitutional platelet anomaly skos:exactMatch Orphanet:71202 Rare hemorrhagic disorder due to a constitutional platelet anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019099 obsolete rare soft tissue tumor skos:exactMatch Orphanet:71209 Rare soft tissue tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019110 obsolete rare central nervous system or retinal vascular disease skos:exactMatch Orphanet:71281 Rare central nervous system and retinal vascular disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019117 obsolete genetic nervous system disorder skos:exactMatch Orphanet:71859 Rare genetic neurological disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019183 obsolete inherited odontologic disease skos:exactMatch Orphanet:77830 Rare genetic odontologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019271 obsolete acrokeratoderma skos:exactMatch Orphanet:79356 Acrokeratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019277 obsolete epidermal appendage anomaly skos:exactMatch Orphanet:79362 Epidermal appendage anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019281 obsolete isolated genetic hair shaft abnormality skos:exactMatch Orphanet:79366 Isolated hair shaft abnormality semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019282 obsolete syndromic hair shaft abnormality skos:exactMatch Orphanet:79367 Syndromic hair shaft abnormality semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019285 obsolete syndromic nail anomaly skos:exactMatch Orphanet:79370 Syndromic nail anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019286 obsolete sebaceous gland anomaly skos:exactMatch Orphanet:79372 Sebaceous gland anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019292 obsolete dermis elastic tissue disorder skos:exactMatch Orphanet:79378 Dermis elastic tissue disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019298 obsolete rare urticaria skos:exactMatch Orphanet:79384 Rare urticaria semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019299 obsolete unclassified genetic skin disorder skos:exactMatch Orphanet:79385 Unclassified genetic skin disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019300 obsolete rare skin tumor or hamartoma skos:exactMatch Orphanet:79386 Rare skin tumor or hamartoma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019304 obsolete rare photodermatosis skos:exactMatch Orphanet:79390 Rare photodermatosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019305 obsolete immune deficiency with skin involvement skos:exactMatch Orphanet:79391 Immune deficiency with skin involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019491 obsolete rare intellectual disability skos:exactMatch Orphanet:87277 Rare intellectual disability semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019513 obsolete esophageal malformation skos:exactMatch Orphanet:88993 Esophageal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019515 obsolete rare dementia skos:exactMatch Orphanet:89043 Rare dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019519 obsolete rare skin disease skos:exactMatch Orphanet:89826 Rare skin disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019546 obsolete other acquired skin disease skos:exactMatch Orphanet:90077 Other acquired skin disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019590 obsolete rare endocrine growth disease skos:exactMatch Orphanet:90692 Rare endocrine growth disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019593 obsolete 46,XX disorder of sex development induced by fetal androgens excess skos:exactMatch Orphanet:90776 46,XX difference of sex development induced by fetal androgens excess semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019599 obsolete primary lipodystrophy skos:exactMatch Orphanet:90970 Primary lipodystrophy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019608 obsolete 46,XX disorder of sex development induced by maternal-derived androgen skos:exactMatch Orphanet:91144 46,XX difference of sex development induced by maternal-derived androgen semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019619 obsolete duplication of the esophagus skos:exactMatch Orphanet:91357 Duplication of the esophagus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019684 obsolete rare bone disease skos:exactMatch Orphanet:93419 Rare bone disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019688 obsolete sulfation-related bone disorder skos:exactMatch Orphanet:93423 Sulfation-related bone disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019692 obsolete multiple epiphyseal dysplasia and pseudoachondroplasia skos:exactMatch Orphanet:93429 Multiple epiphyseal dysplasia and pseudoachondroplasia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019704 obsolete primary bone dysplasia with decreased bone density skos:exactMatch Orphanet:93446 Primary bone dysplasia with decreased bone density semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019705 obsolete primary bone dysplasia with defective bone mineralization skos:exactMatch Orphanet:93447 Primary bone dysplasia with defective bone mineralization semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019709 obsolete cleidocranial dysplasia and isolated cranial ossification defect skos:exactMatch Orphanet:93451 Cleidocranial dysplasia and isolated cranial ossification defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019712 obsolete patellar dysostosis skos:exactMatch Orphanet:93455 Patellar dysostosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019714 obsolete non-syndromic polydactyly, syndactyly and/or hyperphalangy skos:exactMatch Orphanet:93458 Non-syndromic polydactyly, syndactyly and/or hyperphalangy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019717 obsolete chromosomal disease with overgrowth skos:exactMatch Orphanet:93461 Chromosomal disease with overgrowth semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019743 obsolete nephropathy secondary to a storage or other metabolic disease skos:exactMatch Orphanet:93593 Nephropathy secondary to a storage or other metabolic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019744 obsolete rare renal tubular disease skos:exactMatch Orphanet:93603 Rare renal tubular disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019747 obsolete hematological disorder with renal involvement skos:exactMatch Orphanet:93614 Hematological disorder with renal involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019748 obsolete rare cause of hypertension skos:exactMatch Orphanet:93618 Rare cause of hypertension semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019749 obsolete rare renal tumor skos:exactMatch Orphanet:93619 Rare renal tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019750 obsolete rare renal disease skos:exactMatch Orphanet:93626 Rare renal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019822 obsolete arterial duct anomaly skos:exactMatch Orphanet:95485 Arterial duct anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019827 obsolete disease associated with non-acquired combined pituitary hormone deficiency skos:exactMatch Orphanet:95495 Disease associated with non-acquired combined pituitary hormone deficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019833 obsolete pituitary hormone deficiency from tumoral origin skos:exactMatch Orphanet:95503 Pituitary hormone deficiency of tumoral origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019834 obsolete pituitary hormone deficiency from meningeal origin skos:exactMatch Orphanet:95505 Pituitary hormone deficiency of meningeal origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019841 obsolete pituitary hormone defiency from vascular origin skos:exactMatch Orphanet:95611 Pituitary hormone deficiency of vascular origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019843 obsolete pituitary hormone deficiency secondary to a granulomatous disease skos:exactMatch Orphanet:95617 Pituitary hormone deficiency secondary to a granulomatous disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019844 obsolete pituitary hormone deficiency secondary to storage disease skos:exactMatch Orphanet:95618 Pituitary hormone deficiency secondary to storage disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019856 obsolete primary congenital hypothyroidism without thyroid developmental anomaly skos:exactMatch Orphanet:95714 Primary congenital hypothyroidism without thyroid developmental anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019859 obsolete congenital thyroid malformation without hypothyroidism skos:exactMatch Orphanet:95718 Congenital thyroid malformation without hypothyroidism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019936 obsolete rare otorhinolaryngological malformation skos:exactMatch Orphanet:96333 Rare otorhinolaryngological malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019937 obsolete rare gynecologic or obstetric disease skos:exactMatch Orphanet:96344 Rare gynecologic or obstetric disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019965 obsolete rare benign ovarian tumor skos:exactMatch Orphanet:97293 Rare benign ovarian tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019996 obsolete rare cardiac disease skos:exactMatch Orphanet:97929 Rare cardiac disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019997 obsolete rare gastroenterologic disease skos:exactMatch Orphanet:97935 Rare gastroenterologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019998 obsolete gastroduodenal malformation skos:exactMatch Orphanet:97944 Gastroduodenal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020000 obsolete rare respiratory disease skos:exactMatch Orphanet:97955 Rare respiratory disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020002 obsolete rare surgical thoracic disease skos:exactMatch Orphanet:97962 Rare surgical thoracic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020003 obsolete rare surgical cardiac disease skos:exactMatch Orphanet:97965 Rare surgical cardiac disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020004 obsolete rare eye disease skos:exactMatch Orphanet:97966 Rare ophthalmic disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020005 obsolete rare endocrine disease skos:exactMatch Orphanet:97978 Rare endocrine disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020008 obsolete rare immune disease skos:exactMatch Orphanet:98004 Rare immune disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020009 obsolete rare neurologic disease skos:exactMatch Orphanet:98006 Rare neurologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020011 obsolete rare headache disorder skos:exactMatch Orphanet:98022 Rare headache semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020013 obsolete rare odontologic disease skos:exactMatch Orphanet:98026 Rare odontologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020014 obsolete rare disease with odontological manifestation skos:exactMatch Orphanet:98027 Rare disease with odontological manifestation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020015 obsolete rare circulatory system disease skos:exactMatch Orphanet:98028 Rare circulatory system disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020016 obsolete rare neurologic disease with psychiatric involvement skos:exactMatch Orphanet:98033 Rare neurologic disease with psychiatric involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020017 obsolete rare otorhinolaryngologic disease skos:exactMatch Orphanet:98036 Rare otorhinolaryngologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020018 obsolete cranial malformation skos:exactMatch Orphanet:98038 Cranial malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020019 obsolete digestive tract malformation skos:exactMatch Orphanet:98039 Digestive tract malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020020 obsolete visceral malformation of the liver, biliary tract, pancreas or spleen skos:exactMatch Orphanet:98041 Visceral malformation of the liver, biliary tract, pancreas or spleen semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020021 obsolete diaphragmatic or abdominal wall malformation skos:exactMatch Orphanet:98043 Diaphragmatic or abdominal wall malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020023 obsolete respiratory or mediastinal malformation skos:exactMatch Orphanet:98045 Respiratory or mediastinal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020024 obsolete rare infertility skos:exactMatch Orphanet:98047 Rare infertility semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020025 obsolete rare male infertility skos:exactMatch Orphanet:98048 Rare male infertility semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020026 obsolete rare female infertility skos:exactMatch Orphanet:98049 Rare female infertility semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020027 obsolete rare allergic disease skos:exactMatch Orphanet:98050 Rare allergic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020028 obsolete rare allergic respiratory disease skos:exactMatch Orphanet:98052 Rare allergic respiratory disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020029 obsolete rare genetic cardiac disease skos:exactMatch Orphanet:98054 Rare genetic cardiac disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020030 obsolete rare genetic renal disease skos:exactMatch Orphanet:98056 Rare genetic renal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020032 obsolete rare urinary tract tumor skos:exactMatch Orphanet:98058 Rare urinary tract tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020033 obsolete rare digestive tumor skos:exactMatch Orphanet:98059 Rare digestive tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020034 obsolete rare respiratory tract neoplasm skos:exactMatch Orphanet:98060 Rare respiratory tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020035 obsolete rare otorhinolaryngologic tumor skos:exactMatch Orphanet:98061 Rare otorhinolaryngologic tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020036 obsolete rare nervous system tumor skos:exactMatch Orphanet:98062 Rare nervous system tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020037 obsolete rare gynecological tumor skos:exactMatch Orphanet:98063 Rare gynecological tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020038 obsolete gonadal dysgenesis of gynecological interest skos:exactMatch Orphanet:98074 Gonadal dysgenesis of gynecological interest semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020039 obsolete 46,XX disorder of sex development induced by androgens excess skos:exactMatch Orphanet:98078 46,XX difference of sex development induced by androgens excess semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020042 obsolete syndrome with 46,XY disorder of sex development skos:exactMatch Orphanet:98087 Syndrome with 46,XY difference of sex development semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020051 obsolete total autosomal trisomy skos:exactMatch Orphanet:98131 Total autosomal trisomy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020052 obsolete partial autosomal trisomy/tetrasomy skos:exactMatch Orphanet:98132 Partial autosomal duplication/triplication semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020053 obsolete total autosomal monosomy skos:exactMatch Orphanet:98141 Total autosomal monosomy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020054 obsolete partial autosomal monosomy skos:exactMatch Orphanet:98142 Partial autosomal deletion semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020055 obsolete autosomal uniparental disomy skos:exactMatch Orphanet:98152 Autosomal uniparental disomy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020059 obsolete gonosome number anomaly skos:exactMatch Orphanet:98156 Sex-chromosome number anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020060 obsolete gonosome structural anomaly skos:exactMatch Orphanet:98157 Sex-chromosome structural anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020062 obsolete chromosome X structural anomaly skos:exactMatch Orphanet:98159 Chromosome X structural anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020063 obsolete malformation syndrome with hamartosis skos:exactMatch Orphanet:98196 Malformation syndrome with hamartosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020069 obsolete chronic encephalitis skos:exactMatch Orphanet:98255 Chronic encephalitis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020090 obsolete male infertility due to gonadal dysgenesis skos:exactMatch Orphanet:98313 Male infertility due to gonadal dysgenesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020091 obsolete male infertility due to obstructive azoospermia skos:exactMatch Orphanet:98343 Male infertility due to obstructive azoospermia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020093 obsolete autosomal dominant isolated diffuse palmoplantar keratoderma skos:exactMatch Orphanet:98349 Autosomal dominant isolated diffuse palmoplantar keratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020094 obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:98352 Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020095 obsolete autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:98353 Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020096 obsolete autosomal recessive isolated diffuse palmoplantar keratoderma skos:exactMatch Orphanet:98356 Autosomal recessive isolated diffuse palmoplantar keratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020097 obsolete autosomal recessive disease with focal palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:98357 Autosomal recessive disease with focal palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020098 obsolete constitutional anemia due to iron metabolism disorder skos:exactMatch Orphanet:98360 Constitutional anemia due to iron metabolism disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020100 obsolete rare hemolytic anemia skos:exactMatch Orphanet:98363 Rare hemolytic anemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020101 obsolete constitutional hemolytic anemia due to membrane defect skos:exactMatch Orphanet:98364 Rare constitutional hemolytic anemia due to a red cell membrane anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020104 obsolete rare constitutional hemolytic anemia due to an enzyme disorder skos:exactMatch Orphanet:98369 Rare constitutional hemolytic anemia due to an enzyme disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020105 obsolete hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies skos:exactMatch Orphanet:98370 Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020109 obsolete constitutional megaloblastic anemia due to vitamin B12 metabolism disorder skos:exactMatch Orphanet:98396 Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020111 obsolete constitutional megaloblastic anemia due to folate metabolism disorder skos:exactMatch Orphanet:98408 Constitutional megaloblastic anemia due to folate metabolism disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020116 obsolete rare blood coagulation disease skos:exactMatch Orphanet:98429 Rare coagulation disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020125 obsolete acquired neuromuscular junction disease skos:exactMatch Orphanet:98494 Acquired neuromuscular junction disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020126 obsolete rare peripheral neuropathy skos:exactMatch Orphanet:98496 Rare peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020130 obsolete malformation of the cerebellar vermis skos:exactMatch Orphanet:98514 Malformation of the cerebellar vermis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020131 obsolete malformation of the cerebellar hemispheres skos:exactMatch Orphanet:98516 Malformation of the cerebellar hemispheres semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020132 obsolete cranial nerve and nuclear aplasia skos:exactMatch Orphanet:98518 Cranial nerve and nuclear aplasia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020133 obsolete posterior fossa malformation skos:exactMatch Orphanet:98519 Posterior fossa malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020136 obsolete neurodegenerative disease with dementia skos:exactMatch Orphanet:98534 Neurodegenerative disease with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020137 obsolete frontotemporal degeneration with dementia skos:exactMatch Orphanet:98535 Frontotemporal degeneration with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020138 obsolete ataxia with dementia skos:exactMatch Orphanet:98538 Ataxia with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020139 obsolete early-onset ataxia with dementia skos:exactMatch Orphanet:98539 Early-onset ataxia with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020140 obsolete late-onset ataxia with dementia skos:exactMatch Orphanet:98540 Late-onset ataxia with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020141 obsolete infectious disease with dementia skos:exactMatch Orphanet:98542 Infectious disease with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020142 obsolete metabolic disease with dementia skos:exactMatch Orphanet:98543 Metabolic disease with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020144 obsolete cerebrovascular dementia skos:exactMatch Orphanet:98549 Rare cerebrovascular dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020148 obsolete syndromic aniridia skos:exactMatch Orphanet:98557 Syndromic aniridia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020151 obsolete rare palpebral disease skos:exactMatch Orphanet:98560 Rare palpebral disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020152 obsolete rare eyelid malformation skos:exactMatch Orphanet:98561 Congenital malformation of the eyelid semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020154 obsolete microblepharon-ablephara syndrome skos:exactMatch Orphanet:98563 Microblepharon-ablephara syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020155 obsolete eyelid border anomaly skos:exactMatch Orphanet:98564 Eyelid border anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020156 obsolete syndromic ankyloblepharon skos:exactMatch Orphanet:98565 Syndromic ankyloblepharon filiforme adnatum semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020157 obsolete syndromic palpebral coloboma skos:exactMatch Orphanet:98566 Syndromic eyelid coloboma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020158 obsolete eyelids malposition disorder skos:exactMatch Orphanet:98567 Rare eyelid malposition disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020162 obsolete secondary ectropion skos:exactMatch Orphanet:98571 Secondary ectropion semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020165 obsolete syndromic epicanthus skos:exactMatch Orphanet:98574 Syndromic epicanthus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020167 obsolete malposition of external canthus skos:exactMatch Orphanet:98576 Syndromic outer canthal malposition semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020184 obsolete rare eyebrow/eyelashes anomaly skos:exactMatch Orphanet:98594 Rare eyebrow/eyelash disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020192 obsolete rare lacrimal system disease skos:exactMatch Orphanet:98602 Rare disorder of the lacrimal apparatus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020195 obsolete excretory apparatus of the lacrimal system anomaly skos:exactMatch Orphanet:98605 Lacrimal drainage system anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020197 obsolete EEC syndrome and related syndrome skos:exactMatch Orphanet:98609 EEC syndrome and related disorders semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020198 obsolete rare conjunctival disease skos:exactMatch Orphanet:98610 Rare disorder with conjunctival involvement as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020206 obsolete rare refraction anomaly skos:exactMatch Orphanet:98618 Rare refraction anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020209 obsolete rare hyperopia and astigmatism skos:exactMatch Orphanet:98621 Rare hyperopia and astigmatism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020210 obsolete syndromic hyperopia skos:exactMatch Orphanet:98622 Syndromic hyperopia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020211 obsolete syndromic keratoconus skos:exactMatch Orphanet:98623 Syndromic keratoconus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020216 obsolete secondary dysgenetic glaucoma skos:exactMatch Orphanet:98631 Congenital malformation of the eye with glaucoma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020219 obsolete corneogoniodysgenesis skos:exactMatch Orphanet:98635 Corneodysgenesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020222 obsolete rare disease with glaucoma as a major feature skos:exactMatch Orphanet:98638 Rare disease with glaucoma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020223 obsolete lens and zonula anomaly skos:exactMatch Orphanet:98639 Rare lens disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020224 obsolete rare cataract skos:exactMatch Orphanet:98640 Rare disorder with lens opacification semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020225 obsolete syndromic cataract skos:exactMatch Orphanet:98641 Syndromic cataract semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020226 obsolete chromosomal anomaly with cataract skos:exactMatch Orphanet:98642 Chromosomal anomaly with cataract semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020228 obsolete cataract associated with a metabolic disease skos:exactMatch Orphanet:98644 Metabolic disease with cataract semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020230 obsolete renal disease with cataract skos:exactMatch Orphanet:98646 Renal disease with cataract semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020232 obsolete musculoskeletal disease with cataract skos:exactMatch Orphanet:98648 Musculoskeletal disease with cataract semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020233 obsolete dentocutaneous disease with cataract skos:exactMatch Orphanet:98649 Dentocutaneous disease with cataract semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020234 obsolete craniofacial anomaly with cataract skos:exactMatch Orphanet:98650 Craniofacial anomaly with cataract semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020235 obsolete lens size anomaly skos:exactMatch Orphanet:98652 Lens size anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020236 obsolete lens position anomaly skos:exactMatch Orphanet:98653 Lens position anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020237 obsolete lens shape anomaly skos:exactMatch Orphanet:98655 Lens shape anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020240 obsolete syndromic retinitis pigmentosa skos:exactMatch Orphanet:98661 Syndromic rod-cone dystrophy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020251 obsolete rare strabismus and restriction syndrome skos:exactMatch Orphanet:98681 Rare disorder with strabismus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020253 obsolete syndrome with a symptomatic strabismus skos:exactMatch Orphanet:98683 Syndromic disorder with strabismus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020254 obsolete craniostenosis associated with a strabismus skos:exactMatch Orphanet:98684 Craniostenosis with strabismus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020284 obsolete heart position anomaly skos:exactMatch Orphanet:98716 Heart position anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020285 obsolete transposition of the great arteries and conotruncal cardiac anomaly skos:exactMatch Orphanet:98717 Transposition of the great arteries and conotruncal cardiac anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020286 obsolete aortic malformation skos:exactMatch Orphanet:98718 Aortic malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020287 obsolete pulmonary artery or pulmonary branch anomaly skos:exactMatch Orphanet:98719 Pulmonary artery or pulmonary branch anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020288 obsolete atrioventricular valve anomaly skos:exactMatch Orphanet:98720 Atrioventricular valve anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020293 obsolete ascending aorta anomaly skos:exactMatch Orphanet:98725 Ascending aorta anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020294 obsolete atrial defect and interatrial communication skos:exactMatch Orphanet:98727 Rare atrial defect and interatrial communication semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020313 obsolete unclassified myelodysplastic/myeloproliferative disease skos:exactMatch Orphanet:98825 Unclassified myelodysplastic/myeloproliferative disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020339 obsolete X-linked complex spastic paraplegia skos:exactMatch Orphanet:98888 X-linked complex spastic paraplegia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020343 obsolete alpha-crystallinopathy skos:exactMatch Orphanet:98910 Alpha-crystallinopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020999 obsolete genetic chronic primary adrenal insufficiency skos:exactMatch Orphanet:101960 Genetic chronic primary adrenal insufficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0021027 obsolete genetic hair anomaly skos:exactMatch Orphanet:183450 Genetic hair anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0021028 obsolete genetic nail anomaly skos:exactMatch Orphanet:183454 Genetic nail anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0021034 obsolete hereditary alopecia skos:exactMatch Orphanet:481771 Genetic alopecia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0021037 obsolete genetic neurodegenerative disease with dementia skos:exactMatch Orphanet:276058 Genetic neurodegenerative disease with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0021198 obsolete rare genetic disease skos:exactMatch Orphanet:98053 Rare genetic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0022397 obsolete retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene skos:exactMatch Orphanet:156168 Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0022400 obsolete retinal ciliopathy due to mutation in the RPGRIP gene skos:exactMatch Orphanet:156174 Retinal ciliopathy due to mutation in the RPGRIP gene semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0022404 obsolete retinal ciliopathy due to mutation in Usher gene skos:exactMatch Orphanet:156177 Retinal ciliopathy due to mutation in Usher gene semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0022405 obsolete retinal ciliopathy due to mutation in nephronophthisis gene skos:exactMatch Orphanet:156180 Retinal ciliopathy due to mutation in nephronophthisis gene semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0022407 obsolete retinal ciliopathy due to mutation in Bardet-Biedl gene skos:exactMatch Orphanet:156183 Retinal ciliopathy due to mutation in Bardet-Biedl gene semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0022409 obsolete nephropathy-associated ciliopathy skos:exactMatch Orphanet:156162 Renal ciliopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0024145 obsolete Pierre Robin syndrome associated with collagen disease skos:exactMatch Orphanet:138041 Pierre Robin syndrome associated with collagen disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0024147 obsolete Pierre Robin syndrome associated with a chromosomal anomaly skos:exactMatch Orphanet:138047 Pierre Robin syndrome associated with a chromosomal anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0024148 obsolete Pierre Robin syndrome associated with branchial archs anomalies skos:exactMatch Orphanet:138050 Pierre Robin syndrome associated with branchial archs anomalies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0024149 obsolete Pierre Robin syndrome associated with bone disease skos:exactMatch Orphanet:138055 Pierre Robin syndrome associated with bone disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0024471 obsolete non-inflammatory vasculopathy skos:exactMatch Orphanet:496924 Non-inflammatory vasculopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0024987 obsolete genetic urogenital tract malformation skos:exactMatch Orphanet:156622 Genetic urogenital tract malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0025511 obsolete inherited neuroendocrine tumor skos:exactMatch Orphanet:271847 Genetic neuroendocrine tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026141 obsolete genetic urticaria skos:exactMatch Orphanet:182734 Genetic urticaria semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026150 obsolete genetic erythrokeratoderma skos:exactMatch Orphanet:183438 Genetic erythrokeratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026151 obsolete genetic acrokeratoderma skos:exactMatch Orphanet:183441 Genetic acrokeratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026152 obsolete genetic porokeratosis skos:exactMatch Orphanet:183444 Genetic porokeratosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026157 obsolete genetic pigmentation anomaly of the skin skos:exactMatch Orphanet:183463 Genetic pigmentation anomaly of the skin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026166 obsolete genetic immune deficiency with skin involvement skos:exactMatch Orphanet:183494 Genetic immune deficiency with skin involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026167 obsolete genetic neuromuscular disease skos:exactMatch Orphanet:183497 Genetic neuromuscular disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026170 obsolete genetic central nervous system malformation skos:exactMatch Orphanet:183506 Genetic central nervous system malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026173 obsolete rare genetic medullar disease skos:exactMatch Orphanet:183515 Rare genetic medullar disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026180 obsolete genetic congenital limb malformation skos:exactMatch Orphanet:183536 Genetic congenital limb malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026181 obsolete genetic renal or urinary tract malformation skos:exactMatch Orphanet:183539 Genetic renal or urinary tract malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026182 obsolete genetic cranial malformation skos:exactMatch Orphanet:183542 Genetic cranial malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026183 obsolete genetic digestive tract malformation skos:exactMatch Orphanet:183545 Genetic digestive tract malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026184 obsolete genetic visceral malformation of the liver, biliary tract, pancreas or spleen skos:exactMatch Orphanet:183548 Genetic visceral malformation of the liver, biliary tract, pancreas or spleen semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026185 obsolete genetic respiratory or mediastinal malformation skos:exactMatch Orphanet:183554 Genetic respiratory or mediastinal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026186 obsolete genetic developmental defect of the eye skos:exactMatch Orphanet:183557 Genetic developmental defect of the eye semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026187 obsolete genetic malformation syndrome with short stature skos:exactMatch Orphanet:183570 Genetic malformation syndrome with short stature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026188 obsolete genetic overgrowth/obesity syndrome skos:exactMatch Orphanet:183573 Genetic overgrowth/obesity syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026189 obsolete genetic branchial arch or oral-acral syndrome skos:exactMatch Orphanet:183576 Genetic branchial arch or oral-acral syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026190 obsolete genetic malformation syndrome with odontal and/or periodontal component skos:exactMatch Orphanet:183580 Genetic malformation syndrome with odontal and/or periodontal component semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026192 obsolete genetic glomerular disease skos:exactMatch Orphanet:183586 Genetic glomerular disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026193 obsolete genetic thrombotic microangiopathy skos:exactMatch Orphanet:183589 Genetic thrombotic microangiopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026203 obsolete genetic respiratory malformation skos:exactMatch Orphanet:183622 Genetic respiratory malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026209 obsolete genetic polyendocrinopathy skos:exactMatch Orphanet:183643 Genetic polyendocrinopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0027652 5-fluorouracil toxicity skos:exactMatch Orphanet:240839 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0027653 abacavir toxicity skos:exactMatch Orphanet:240841 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0027655 allopurinol toxicity skos:exactMatch Orphanet:240845 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0027664 cisplatin toxicity skos:exactMatch Orphanet:240863 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0027666 codeine toxicity skos:exactMatch Orphanet:240867 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0027667 efavirenz toxicity skos:exactMatch Orphanet:240869 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0027668 flucloxacilline toxicity skos:exactMatch Orphanet:240871 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0027675 irinotecan toxicity skos:exactMatch Orphanet:240885 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0027677 isoniazid toxicity skos:exactMatch Orphanet:240887 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0027687 raltegravir toxicity skos:exactMatch Orphanet:240905 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0027696 voriconazole toxicity skos:exactMatch Orphanet:240921 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0027750 obsolete serpinopathy with toxic serpin polymerization skos:exactMatch Orphanet:250808 Serpinopathy with toxic serpin polymerization semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0027751 obsolete serpinopathy with loss of serpin function skos:exactMatch Orphanet:250811 Serpinopathy with loss of serpin function semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0027929 obsolete genetic polycythemia skos:exactMatch Orphanet:250165 Genetic polycythemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0028569 obsolete genetic interstitial lung disease skos:exactMatch Orphanet:264992 Genetic interstitial lung disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0028618 obsolete gastroenteric neuroendocrine neoplasm skos:exactMatch Orphanet:481508 Gastroenteric neuroendocrine neoplasm semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0028737 obsolete biliary atresia disorder skos:exactMatch Orphanet:498345 Biliary atresia and associated disorders semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0028795 obsolete rare genetic systemic or rheumatologic disease skos:exactMatch Orphanet:271870 Rare genetic systemic or rheumatologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0028868 obsolete genetic frontotemporal degeneration with dementia skos:exactMatch Orphanet:276061 Genetic frontotemporal degeneration with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0029014 obsolete rare systemic or rheumatological disease of childhood skos:exactMatch Orphanet:280342 Rare systemic or rheumatological disease of childhood semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0029102 obsolete autosomal ichthyosis syndrome with other associated signs skos:exactMatch Orphanet:281244 Autosomal ichthyosis syndrome with other associated signs semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0029810 obsolete laminopathy with striated muscle involvement skos:exactMatch Orphanet:300755 Laminopathy with striated muscle involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0029811 obsolete laminopathy with peripheral neuropathy skos:exactMatch Orphanet:300758 Laminopathy with peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0029812 obsolete laminopathy with lipodystrophy skos:exactMatch Orphanet:300763 Laminopathy with lipodystrophy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0029813 obsolete laminopathy with premature aging skos:exactMatch Orphanet:300766 Laminopathy with premature aging semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0030767 obsolete genetic tumor of hematopoietic and lymphoid tissues skos:exactMatch Orphanet:322126 Genetic tumor of hematopoietic and lymphoid tissues semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0031004 obsolete genetic disorder of sex development of gynecological interest skos:exactMatch Orphanet:325665 Genetic difference of sex development of gynecological interest semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0031016 obsolete genetic disorder of sex development skos:exactMatch Orphanet:325690 Genetic difference of sex development semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0031689 obsolete genetic progeroid syndrome skos:exactMatch Orphanet:363245 Genetic progeroid syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0031697 obsolete genetic intractable diarrhea of infancy skos:exactMatch Orphanet:363300 Genetic intractable diarrhea of infancy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0031698 obsolete genetic intestinal disease due to fat malabsorption skos:exactMatch Orphanet:363306 Genetic intestinal disease due to fat malabsorption semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0031949 obsolete genetic neurovascular malformation skos:exactMatch Orphanet:371436 Genetic neurovascular malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0031952 obsolete genetic syndromic esophageal malformation skos:exactMatch Orphanet:371445 Genetic syndromic esophageal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0032011 obsolete biological anomaly skos:exactMatch Orphanet:377790 Biological anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0032013 obsolete clinical syndrome skos:exactMatch Orphanet:377792 Clinical syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0032014 obsolete particular clinical situation in a disease or syndrome skos:exactMatch Orphanet:377793 Particular clinical situation in a disease or syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0032221 obsolete rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism skos:exactMatch Orphanet:399846 Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0033056 obsolete genetic facial cleft skos:exactMatch Orphanet:414726 Genetic facial cleft semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0033169 curariform drugs toxicity skos:exactMatch Orphanet:413693 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0033170 statin toxicity skos:exactMatch Orphanet:413696 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0033181 phenytoin or carbamazepine toxicity skos:exactMatch Orphanet:414750 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0033329 obsolete genetic precocious puberty skos:exactMatch Orphanet:435554 Genetic precocious puberty semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0033331 obsolete genetic precocious puberty in female skos:exactMatch Orphanet:435564 Genetic precocious puberty in female semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0033334 obsolete genetic nose and cavum anomaly skos:exactMatch Orphanet:435606 Genetic nose and cavum anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0033335 obsolete genetic larynx anomaly skos:exactMatch Orphanet:435609 Genetic larynx anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0033336 obsolete genetic tracheal anomaly skos:exactMatch Orphanet:435612 Genetic tracheal anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0033927 obsolete genetic complex vascular malformation with associated anomalies skos:exactMatch Orphanet:459537 Genetic complex vascular malformation with associated anomalies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034039 obsolete genetic hemoglobinopathy skos:exactMatch Orphanet:466066 Genetic hemoglobinopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034443 obsolete genetic non-acquired premature ovarian failure skos:exactMatch Orphanet:485382 Rare genetic premature ovarian failure semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034641 obsolete rare genetic hyperkinetic movement disorder skos:exactMatch Orphanet:496916 Rare genetic hyperkinetic movement disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034661 obsolete syndromic biliary atresia skos:exactMatch Orphanet:498350 Syndromic biliary atresia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034667 obsolete longitudinal limb defect skos:exactMatch Orphanet:498457 Non-syndromic longitudinal limb defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034668 obsolete terminal transverse limb defect skos:exactMatch Orphanet:498461 Non-syndromic terminal transverse limb defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034669 obsolete non-syndromic preaxial polydactyly skos:exactMatch Orphanet:498464 Non-syndromic preaxial polydactyly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034670 obsolete non-syndromic postaxial polydactyly skos:exactMatch Orphanet:498467 Non-syndromic postaxial polydactyly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034671 obsolete non-syndromic complex polydactyly skos:exactMatch Orphanet:498470 Non-syndromic complex polydactyly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034733 obsolete cochlear nerve deficiency skos:exactMatch Orphanet:502318 Cochlear nerve deficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034901 obsolete ATP13A2-related parkinsonism skos:exactMatch Orphanet:514980 ATP13A2-related parkinsonism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034923 obsolete inflammatory/autoimmune disorder involving the lacrimal system skos:exactMatch Orphanet:519264 Inflammatory/autoimmune disorder involving the lacrimal system semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034926 obsolete rare disorder with entropion skos:exactMatch Orphanet:519270 Rare disorder with entropion semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034931 obsolete rare conjunctivitis skos:exactMatch Orphanet:519280 Rare conjunctivitis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034937 obsolete syndromic ectopia lentis skos:exactMatch Orphanet:519292 Syndromic ectopia lentis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034943 obsolete isolated vitreoretinopathy skos:exactMatch Orphanet:519304 Isolated vitreoretinopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034953 obsolete syndromic inherited retinal disorder skos:exactMatch Orphanet:519325 Syndromic inherited retinal disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034954 obsolete syndromic vitreoretinopathy skos:exactMatch Orphanet:519327 Syndromic vitreoretinopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034961 obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature skos:exactMatch Orphanet:519341 Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034962 obsolete rare ophthalmic disorder with cortical involvement skos:exactMatch Orphanet:519343 Rare ophthalmic disorder with cortical involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034965 obsolete rare ophthalmic disorder with cranial nerve involvement skos:exactMatch Orphanet:519349 Rare ophthalmic disorder with cranial nerve involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034968 obsolete rare ocular motility/alignment disorder skos:exactMatch Orphanet:519355 Rare ocular motility/alignment disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034977 obsolete isolated microspherophakia skos:exactMatch Orphanet:519396 Isolated microspherophakia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035001 obsolete rare disorder of the visual organs skos:exactMatch Orphanet:520814 Rare disorder of the visual organs semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035002 obsolete isolated inherited retinal disorder skos:exactMatch Orphanet:520817 Isolated inherited retinal disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035013 obsolete genetic primary orthostatic disorder skos:exactMatch Orphanet:521232 Genetic primary orthostatic disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035014 obsolete primary orthostatic disorder skos:exactMatch Orphanet:521236 Primary orthostatic disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035037 obsolete rare genetic disorder of the visual organs skos:exactMatch Orphanet:522504 Rare genetic disorder of the visual organs semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035075 obsolete secondary early-onset glaucoma of genetic origin skos:exactMatch Orphanet:522580 Secondary early-onset glaucoma of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035274 obsolete anomaly of the coronary ostia skos:exactMatch Orphanet:542822 Anomaly of the coronary ostia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035328 obsolete rare disorder due to poisoning skos:exactMatch Orphanet:556508 Rare disorder due to poisoning semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035426 obsolete rare disorder potentially indicated for transplant or complication after transplantation skos:exactMatch Orphanet:565779 Rare disorder potentially indicated for transplant or complication after transplantation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035469 obsolete primary lymphedema without systemic or visceral involvement skos:exactMatch Orphanet:568041 Primary lymphedema without systemic or visceral involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035470 obsolete primary lymphedema with systemic or visceral involvement skos:exactMatch Orphanet:568044 Primary lymphedema with systemic or visceral involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035471 obsolete disorder with multisystemic involvement and primary lymphedema skos:exactMatch Orphanet:568047 Disorder with multisystemic involvement and primary lymphedema semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035561 obsolete sporadic human prion disease skos:exactMatch Orphanet:576356 Sporadic human prion disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035645 obsolete inherited gynecological cancer-predisposing syndrome skos:exactMatch Orphanet:589746 Inherited gynecological cancer-predisposing syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035682 obsolete fibrous dysplasia/McCune-Albright syndrome skos:exactMatch Orphanet:595216 Fibrous dysplasia/McCune-Albright syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035684 obsolete epidermolysis bullosa simplex without extracutaneous involvement skos:exactMatch Orphanet:595346 Epidermolysis bullosa simplex without extracutaneous involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035685 obsolete epidermolysis bullosa simplex with extracutaneous involvement skos:exactMatch Orphanet:595351 Epidermolysis bullosa simplex with extracutaneous involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035689 obsolete syndrome of reduced sensitivity to thyroid hormone skos:exactMatch Orphanet:596426 Syndrome of reduced sensitivity to thyroid hormone semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035786 obsolete non-syndromic cloacal malformation skos:exactMatch Orphanet:600998 Non-syndromic cloacal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035862 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome skos:exactMatch Orphanet:611314 Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035863 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability skos:exactMatch Orphanet:611327 Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035875 ivermectin toxicity skos:exactMatch Orphanet:574637 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035876 belinostat toxicity or dose selection skos:exactMatch Orphanet:574671 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0036025 toxicity to dolutegravir skos:exactMatch Orphanet:596744 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0037716 obsolete rare genetic deafness skos:exactMatch Orphanet:96210 Rare genetic deafness semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0037860 obsolete rare systemic or rheumatologic disease skos:exactMatch Orphanet:98023 Rare systemic or rheumatologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0038261 obsolete genetic neurological channelopathy of the central nervous system skos:exactMatch Orphanet:98743 Genetic neurological channelopathy of the central nervous system semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0038268 obsolete autoimmune neurological channelopathy skos:exactMatch Orphanet:98750 Autoimmune neurological channelopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0043005 obsolete genetic multiple congenital anomalies/dysmorphic syndrome skos:exactMatch Orphanet:183533 Genetic multiple congenital anomalies/dysmorphic syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0043008 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability skos:exactMatch Orphanet:330206 Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0044636 obsolete rare hyperkinetic movement disorder skos:exactMatch Orphanet:494457 Rare hyperkinetic movement disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0044655 obsolete c12orf65-related combined oxidative phosphorylation defect skos:exactMatch Orphanet:497623 C12ORF65-related combined oxidative phosphorylation defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0800084 obsolete primary bone dysplasia with increased bone density skos:exactMatch Orphanet:93444 Primary bone dysplasia with increased bone density semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0800087 obsolete type 11 collagen-related bone disorder skos:exactMatch Orphanet:93422 Type 11 collagen-related bone disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0800089 obsolete primary bone dysplasia with disorganized development of skeletal components skos:exactMatch Orphanet:93450 Primary bone dysplasia with disorganized development of skeletal components semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0800090 obsolete ectrodactyly with and without other manifestations skos:exactMatch Orphanet:498477 Ectrodactyly with and without other manifestations semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0800091 obsolete overgrowth or tall stature syndrome with skeletal involvement skos:exactMatch Orphanet:498448 Overgrowth or tall stature syndrome with skeletal involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0800092 obsolete hereditary inflammatory or rheumatoid-like osteoarthropathy skos:exactMatch Orphanet:498445 Genetic inflammatory or rheumatoid-like osteoarthropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0800093 obsolete dysostosis with brachydactyly without extraskeletal manifestations skos:exactMatch Orphanet:498451 Dysostosis with brachydactyly without extraskeletal manifestations semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0800094 obsolete dysostosis with brachydactyly with extraskeletal manifestations skos:exactMatch Orphanet:498454 Dysostosis with brachydactyly with extraskeletal manifestations semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0800095 obsolete syndrome with synostosis or other joint formation defect skos:exactMatch Orphanet:93459 Syndrome with synostosis or other joint formation defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0957001 obsolete hereditary mixed dermis disorder skos:exactMatch Orphanet:183481 Genetic mixed dermis disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0957009 obsolete hereditary posterior fossa malformation skos:exactMatch Orphanet:269557 Genetic posterior fossa malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0957024 obsolete hereditary 46,XX disorder of sex development skos:exactMatch Orphanet:325697 Genetic 46,XX difference of sex development semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0957025 obsolete hereditary 46,XY disorder of sex development skos:exactMatch Orphanet:325706 Genetic 46,XY difference of sex development semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0957404 obsolete pyogenic autoinflammatory syndrome of childhood skos:exactMatch Orphanet:324942 Pyogenic autoinflammatory syndrome of childhood semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:8000030 obsolete morphological anomaly skos:exactMatch Orphanet:377791 Morphological anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:8000031 obsolete subtype of a disorder skos:exactMatch Orphanet:557494 subtype of a disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:8000033 obsolete group of disorders skos:exactMatch Orphanet:557492 group of disorders semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_narrowmatch_icd10cm.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_narrowmatch_icd10cm.tsv index f01d990ac..656e51d9f 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_narrowmatch_icd10cm.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_narrowmatch_icd10cm.tsv @@ -460,3 +460,4 @@ MONDO:0100345 lactose intolerance skos:narrowMatch ICD10CM:E73.8 Other lactose i MONDO:0100428 progressive bulbar palsy of childhood skos:narrowMatch ICD10CM:G12.1 Other inherited spinal muscular atrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym progressive bulbar palsy of childhood LEXMATCH MONDO:0100428 progressive bulbar palsy of childhood skos:narrowMatch ICD10CM:G12.1 Other inherited spinal muscular atrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym progressive bulbar palsy of childhood LEXMATCH MONDO:0850301 pemphigoid skos:narrowMatch ICD10CM:L12.8 Other pemphigoid semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym pemphigoid LEXMATCH +MONDO:1050000 sycosis barbae skos:narrowMatch ICD10CM:L73.8 Other specified follicular disorders semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym sycosis barbae LEXMATCH diff --git a/src/ontology/lexmatch/unmapped_doid_lex.tsv b/src/ontology/lexmatch/unmapped_doid_lex.tsv index 3260545e7..2b3a32877 100644 --- a/src/ontology/lexmatch/unmapped_doid_lex.tsv +++ b/src/ontology/lexmatch/unmapped_doid_lex.tsv @@ -1,37 +1,19 @@ 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:0000188 GLUT1 deficiency syndrome DOID:0070560 MONDO:equivalentTo glucose transporter type 1 deficiency syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omimps:606777 -MONDO:0001083 Fanconi renotubular syndrome DOID:0070562 MONDO:equivalentTo Fanconi-Bickel syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:d005198 -MONDO:0006466 thyroid gland spindle cell tumor with thymus-like differentiation DOID:0081461 MONDO:equivalentTo thyroid gland spindle epithelial tumor with thymus-like elements semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym thyroid gland spindle cell tumor with thymus-like differentiation MONDO:0006879 optic papillitis DOID:146 MONDO:equivalentTo papilledema semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym papilledema MONDO:0006879 optic papillitis DOID:146 MONDO:equivalentTo papilledema semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label papilledema -MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 DOID:0070552 MONDO:equivalentTo epidermolytic palmoplantar keratoderma 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:144200 -MONDO:0007860 focal palmoplantar and gingival keratoderma DOID:0070553 MONDO:equivalentTo focal palmoplantar and gingival keratosis semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c536157 -MONDO:0007860 focal palmoplantar and gingival keratoderma DOID:0070553 MONDO:equivalentTo focal palmoplantar and gingival keratosis semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:148730 -MONDO:0009216 glycogen storage disease due to GLUT2 deficiency DOID:0070562 MONDO:equivalentTo Fanconi-Bickel syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:227810 +MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium DOID:0070564 MONDO:equivalentTo dialysis disequilibrium syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dialysis dysequilibrium syndrome MONDO:0009669 spinal muscular atrophy, type 1 DOID:0060160 MONDO:equivalentTo childhood spinal muscular atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym survival motor neuron spinal muscular atrophy MONDO:0009917 pseudohypoaldosteronism, type IB1, autosomal recessive DOID:0060854 MONDO:equivalentTo autosomal recessive pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:264350 -MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma DOID:0070550 MONDO:equivalentTo KRT1-related nonepidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:600962 -MONDO:0011724 encephalopathy due to GLUT1 deficiency DOID:0070560 MONDO:equivalentTo glucose transporter type 1 deficiency syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c536830 -MONDO:0011724 encephalopathy due to GLUT1 deficiency DOID:0070561 MONDO:equivalentTo glucose transporter type 1 deficiency syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:606777 -MONDO:0012430 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 DOID:0070557 MONDO:equivalentTo cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c567656 -MONDO:0012430 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 DOID:0070557 MONDO:equivalentTo cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:610185 -MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 DOID:0070547 MONDO:equivalentTo primary pigmented nodular adrenocortical disease 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c566472 -MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 DOID:0070547 MONDO:equivalentTo primary pigmented nodular adrenocortical disease 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:610475 -MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 DOID:0070546 MONDO:equivalentTo primary pigmented nodular adrenocortical disease 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c566469 -MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 DOID:0070546 MONDO:equivalentTo primary pigmented nodular adrenocortical disease 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:610489 -MONDO:0013188 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 DOID:0070558 MONDO:equivalentTo cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c567690 -MONDO:0013188 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 DOID:0070558 MONDO:equivalentTo cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:613227 -MONDO:0013616 pigmented nodular adrenocortical disease, primary, 3 DOID:0070548 MONDO:equivalentTo primary pigmented nodular adrenocortical disease 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:614190 -MONDO:0014104 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 DOID:0070559 MONDO:equivalentTo cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:615268 -MONDO:0014272 palmoplantar keratoderma, Nagashima type DOID:0070555 MONDO:equivalentTo Nagashima-type palmoplantar keratosis semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:615598 -MONDO:0014359 pigmented nodular adrenocortical disease, primary, 4 DOID:0070549 MONDO:equivalentTo primary pigmented nodular adrenocortical disease 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:615830 -MONDO:0014492 wooly hair-palmoplantar keratoderma syndrome DOID:0070554 MONDO:equivalentTo palmoplantar keratoderma and woolly hair semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:616099 MONDO:0020796 Silver-Russell syndrome 1 DOID:14681 MONDO:equivalentTo Silver-Russell syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:180860 -MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 DOID:0070556 MONDO:equivalentTo cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:224050 -MONDO:0032800 robinow syndrome, autosomal recessive 2 DOID:0060974 MONDO:equivalentTo autosomal recessive Robinow syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618529 -MONDO:0044325 Fanconi anemia, complementation group W DOID:0060978 MONDO:equivalentTo Fanconi anemia complementation group W semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617784 -MONDO:0054748 Fanconi anemia, complementation group S DOID:0060979 MONDO:equivalentTo Fanconi anemia complementation group S semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617883 +MONDO:0024773 spermatogenic failure, X-linked, 4 DOID:0070595 MONDO:equivalentTo X-linked spermatogenic failure 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:301077 +MONDO:0800029 interstitial lung disease 2 DOID:0050156 MONDO:equivalentTo idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cryptogenic fibrosing alveolitis +MONDO:0800029 interstitial lung disease 2 DOID:0050156 MONDO:equivalentTo idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fibrocystic pulmonary dysplasia +MONDO:0800029 interstitial lung disease 2 DOID:0050156 MONDO:equivalentTo idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym idiopathic pulmonary fibrosis +MONDO:0800029 interstitial lung disease 2 DOID:0050156 MONDO:equivalentTo idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym idiopathic pulmonary fibrosis, familial +MONDO:0800029 interstitial lung disease 2 DOID:0050156 MONDO:equivalentTo idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label idiopathic pulmonary fibrosis MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 DOID:14671 MONDO:equivalentTo multiple intestinal atresia semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:243150 -MONDO:0859328 hypomagnesemia 7, renal, with or without dilated cardiomyopathy DOID:0060972 MONDO:equivalentTo renal hypomagnesemia 7, with or without dilated cardiomyopathy semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620152 -MONDO:0957303 palmoplantar keratoderma, epidermolytic, 2 DOID:0070551 MONDO:equivalentTo epidermolytic palmoplantar keratoderma 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620411 +MONDO:0859477 spermatogenic failure, X-linked, 5 DOID:0070596 MONDO:equivalentTo X-linked spermatogenic failure 5 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:301099 +MONDO:0859478 spermatogenic failure, X-linked, 6 DOID:0070597 MONDO:equivalentTo X-linked spermatogenic failure 6 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:301101 +MONDO:0957202 spermatogenic failure, X-linked, 7 DOID:0070598 MONDO:equivalentTo X-linked spermatogenic failure 7 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:301106 +MONDO:0970943 spermatogenic failure, x-linked, 8 DOID:0070599 MONDO:equivalentTo X-linked spermatogenic failure 8 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:301119 diff --git a/src/ontology/lexmatch/unmapped_doid_lex_exact.tsv b/src/ontology/lexmatch/unmapped_doid_lex_exact.tsv index 8e200daba..674d9b748 100644 --- a/src/ontology/lexmatch/unmapped_doid_lex_exact.tsv +++ b/src/ontology/lexmatch/unmapped_doid_lex_exact.tsv @@ -3,14 +3,32 @@ ID A oboInOwl:hasDbXref >A oboInOwl:source MONDO:0005641 aleutian mink disease DOID:2934 MONDO:equivalentTo aleutian mink disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aleutian mink disorder MONDO:0005676 borna disease DOID:5154 MONDO:equivalentTo borna disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label borna disorder MONDO:0007744 cholesterol-ester transfer protein deficiency DOID:0111368 MONDO:equivalentTo cholesterol-ester transfer protein deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholesterol-ester transfer protein deficiency -MONDO:0008265 polycystic liver disease 1 DOID:0060980 MONDO:equivalentTo polycystic liver disease 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:174050 -MONDO:0011731 glucose-galactose malabsorption DOID:0070563 MONDO:equivalentTo glucose-galactose malabsorption semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c562602 -MONDO:0011731 glucose-galactose malabsorption DOID:0070563 MONDO:equivalentTo glucose-galactose malabsorption semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:606824 -MONDO:0014860 polycystic liver disease 2 DOID:0060975 MONDO:equivalentTo polycystic liver disease 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617004 -MONDO:0020748 sitosterolemia 2 DOID:0060983 MONDO:equivalentTo sitosterolemia 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618666 -MONDO:0030374 WHIM syndrome 2 DOID:0060973 MONDO:equivalentTo WHIM syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619407 -MONDO:0044327 polycystic liver disease 4 with or without kidney cysts DOID:0060977 MONDO:equivalentTo polycystic liver disease 4 with or without kidney cysts semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617875 -MONDO:0054743 polycystic liver disease 3 with or without kidney cysts DOID:0060976 MONDO:equivalentTo polycystic liver disease 3 with or without kidney cysts semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617874 -MONDO:0800029 interstitial lung disease 2 DOID:0060971 MONDO:equivalentTo interstitial lung disease 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:178500 -MONDO:0859329 mosaic variegated aneuploidy syndrome 4 DOID:0060981 MONDO:equivalentTo mosaic variegated aneuploidy syndrome 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620153 -MONDO:0859346 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition DOID:0060982 MONDO:equivalentTo mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620189 +MONDO:0030716 spermatogenic failure 66 DOID:0070565 MONDO:equivalentTo spermatogenic failure 66 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619799 +MONDO:0030718 spermatogenic failure 67 DOID:0070566 MONDO:equivalentTo spermatogenic failure 67 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619803 +MONDO:0030721 spermatogenic failure 68 DOID:0070567 MONDO:equivalentTo spermatogenic failure 68 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619805 +MONDO:0030732 spermatogenic failure 69 DOID:0070568 MONDO:equivalentTo spermatogenic failure 69 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619826 +MONDO:0030733 spermatogenic failure 70 DOID:0070569 MONDO:equivalentTo spermatogenic failure 70 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619828 +MONDO:0030787 spermatogenic failure 71 DOID:0070570 MONDO:equivalentTo spermatogenic failure 71 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619831 +MONDO:0030809 spermatogenic failure 72 DOID:0070571 MONDO:equivalentTo spermatogenic failure 72 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619867 +MONDO:0030818 spermatogenic failure 73 DOID:0070572 MONDO:equivalentTo spermatogenic failure 73 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619878 +MONDO:0030972 spermatogenic failure 74 DOID:0070573 MONDO:equivalentTo spermatogenic failure 74 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619937 +MONDO:0030984 spermatogenic failure 75 DOID:0070574 MONDO:equivalentTo spermatogenic failure 75 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619949 +MONDO:0031077 spermatogenic failure 76 DOID:0070575 MONDO:equivalentTo spermatogenic failure 76 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620084 +MONDO:0031083 spermatogenic failure 77 DOID:0070576 MONDO:equivalentTo spermatogenic failure 77 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620103 +MONDO:0859338 spermatogenic failure 78 DOID:0070577 MONDO:equivalentTo spermatogenic failure 78 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620170 +MONDO:0859352 spermatogenic failure 79 DOID:0070578 MONDO:equivalentTo spermatogenic failure 79 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620196 +MONDO:0859364 spermatogenic failure 80 DOID:0070579 MONDO:equivalentTo spermatogenic failure 80 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620222 +MONDO:0859522 spermatogenic failure 81 DOID:0070580 MONDO:equivalentTo spermatogenic failure 81 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620277 +MONDO:0957249 spermatogenic failure 82 DOID:0070581 MONDO:equivalentTo spermatogenic failure 82 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620353 +MONDO:0957250 spermatogenic failure 83 DOID:0070582 MONDO:equivalentTo spermatogenic failure 83 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620354 +MONDO:0957301 spermatogenic failure 84 DOID:0070583 MONDO:equivalentTo spermatogenic failure 84 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620409 +MONDO:0957584 spermatogenic failure 85 DOID:0070584 MONDO:equivalentTo spermatogenic failure 85 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620490 +MONDO:0957593 spermatogenic failure 86 DOID:0070585 MONDO:equivalentTo spermatogenic failure 86 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620499 +MONDO:0957594 spermatogenic failure 87 DOID:0070586 MONDO:equivalentTo spermatogenic failure 87 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620500 +MONDO:0957821 spermatogenic failure 88 DOID:0070587 MONDO:equivalentTo spermatogenic failure 88 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620547 +MONDO:0958206 spermatogenic failure 89 DOID:0070588 MONDO:equivalentTo spermatogenic failure 89 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620705 +MONDO:0958242 spermatogenic failure 90 DOID:0070589 MONDO:equivalentTo spermatogenic failure 90 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620744 +MONDO:0970952 spermatogenic failure 91 DOID:0070590 MONDO:equivalentTo spermatogenic failure 91 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620838 +MONDO:0970999 spermatogenic failure 92 DOID:0070591 MONDO:equivalentTo spermatogenic failure 92 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620848 +MONDO:0971000 spermatogenic failure 93 DOID:0070592 MONDO:equivalentTo spermatogenic failure 93 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620849 +MONDO:0971002 spermatogenic failure 94 DOID:0070593 MONDO:equivalentTo spermatogenic failure 94 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620850 diff --git a/src/ontology/lexmatch/unmapped_icd10cm_lex.tsv b/src/ontology/lexmatch/unmapped_icd10cm_lex.tsv index 66f4883f5..2cd32ceae 100644 --- a/src/ontology/lexmatch/unmapped_icd10cm_lex.tsv +++ b/src/ontology/lexmatch/unmapped_icd10cm_lex.tsv @@ -522,8 +522,6 @@ MONDO:0004582 rheumatic myocarditis ICD10CM:I01.2 MONDO:equivalentTo Acute rheum MONDO:0004582 rheumatic myocarditis ICD10CM:I01.2 MONDO:equivalentTo Acute rheumatic myocarditis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute rheumatic myocarditis MONDO:0004582 rheumatic myocarditis ICD10CM:M05.3 MONDO:equivalentTo Rheumatoid heart disease with rheumatoid arthritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rheumatoid myocarditis MONDO:0004584 maple bark strippers' lung ICD10CM:J67.6 MONDO:equivalentTo Maple-bark-stripper's lung semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alveolitis due to cryptostroma corticale -MONDO:0004587 hereditary night blindness ICD10CM:H53.63 MONDO:equivalentTo Congenital night blindness semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital night blindness -MONDO:0004587 hereditary night blindness ICD10CM:H53.63 MONDO:equivalentTo Congenital night blindness semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital night blindness MONDO:0004604 Hodgkin's lymphoma, lymphocytic-histiocytic predominance ICD10CM:C81.4 MONDO:equivalentTo Lymphocyte-rich Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lymphocyte-rich classical hodgkin lymphoma MONDO:0004608 oropharynx cancer ICD10CM:C10.2 MONDO:equivalentTo Malignant neoplasm of lateral wall of oropharynx semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant neoplasm of lateral wall of oropharynx MONDO:0004608 oropharynx cancer ICD10CM:C10.2 MONDO:equivalentTo Malignant neoplasm of lateral wall of oropharynx semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of lateral wall of oropharynx @@ -1420,6 +1418,8 @@ MONDO:0016158 narcolepsy-cataplexy syndrome ICD10CM:G47.411 MONDO:equivalentTo N MONDO:0016158 narcolepsy-cataplexy syndrome ICD10CM:G47.411 MONDO:equivalentTo Narcolepsy with cataplexy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label narcolepsy with cataplexy MONDO:0016242 hemoglobin C disease ICD10CM:D58.2 MONDO:equivalentTo Other hemoglobinopathies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hb-c disorder MONDO:0016243 hemoglobin E disease ICD10CM:D58.2 MONDO:equivalentTo Other hemoglobinopathies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hb-e disorder +MONDO:0016293 congenital stationary night blindness ICD10CM:H53.63 MONDO:equivalentTo Congenital night blindness semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital night blindness +MONDO:0016293 congenital stationary night blindness ICD10CM:H53.63 MONDO:equivalentTo Congenital night blindness semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital night blindness MONDO:0016301 congenitally corrected transposition of the great arteries ICD10CM:Q20.5 MONDO:equivalentTo Discordant atrioventricular connection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ventricular inversion MONDO:0016344 hydranencephaly ICD10CM:Q04.3 MONDO:equivalentTo Other reduction deformities of brain semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hydranencephaly MONDO:0016344 hydranencephaly ICD10CM:Q04.3 MONDO:equivalentTo Other reduction deformities of brain semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hydranencephaly @@ -1972,3 +1972,4 @@ MONDO:0858950 traumatic brain injury ICD10CM:S06 MONDO:equivalentTo Intracranial MONDO:0859006 proximal femoral focal deficiency ICD10CM:Q72.4 MONDO:equivalentTo Longitudinal reduction defect of femur semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym proximal femoral focal deficiency MONDO:0859598 erythroleukemia ICD10CM:C94.0 MONDO:equivalentTo Acute erythroid leukemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym erythroleukemia MONDO:0956962 benign teratoma ICD10CM:D28 MONDO:equivalentTo Benign neoplasm of other and unspecified female genital organs semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym benign teratoma +MONDO:0971058 verruga peruana ICD10CM:A44.1 MONDO:equivalentTo Cutaneous and mucocutaneous bartonellosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym verruga peruana diff --git a/src/ontology/lexmatch/unmapped_icd10who_lex.tsv b/src/ontology/lexmatch/unmapped_icd10who_lex.tsv index 78e7f1c86..9e33052b4 100644 --- a/src/ontology/lexmatch/unmapped_icd10who_lex.tsv +++ b/src/ontology/lexmatch/unmapped_icd10who_lex.tsv @@ -860,8 +860,6 @@ MONDO:0022697 athetoid cerebral palsy ICD10WHO:G80.3 MONDO:equivalentTo Dyskinet MONDO:0022697 athetoid cerebral palsy ICD10WHO:G80.3 MONDO:equivalentTo Dyskinetic cerebral palsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dyskinetic cerebral palsy MONDO:0023483 infectious myositis ICD10WHO:M60.0 MONDO:equivalentTo Infective myositis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infective myositis MONDO:0023483 infectious myositis ICD10WHO:M60.0 MONDO:equivalentTo Infective myositis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label infective myositis -MONDO:0024361 circadian rhythm sleep disorder ICD10WHO:G47.2 MONDO:equivalentTo Disorders of the sleep-wake schedule semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym disorders of the sleep-wake schedule -MONDO:0024361 circadian rhythm sleep disorder ICD10WHO:G47.2 MONDO:equivalentTo Disorders of the sleep-wake schedule semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorders of the sleep-wake schedule MONDO:0024376 sleep disorder, initiating and maintaining sleep ICD10WHO:G47.0 MONDO:equivalentTo Disorders of initiating and maintaining sleep [insomnias] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym disorders of initiating and maintaining sleep MONDO:0024376 sleep disorder, initiating and maintaining sleep ICD10WHO:G47.0 MONDO:equivalentTo Disorders of initiating and maintaining sleep [insomnias] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorders of initiating and maintaining sleep MONDO:0024574 von Willebrand disease (hereditary or acquired) ICD10WHO:D68.0 MONDO:equivalentTo Von Willebrand disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym von willebrand disorder diff --git a/src/ontology/lexmatch/unmapped_icd11foundation_lex.tsv b/src/ontology/lexmatch/unmapped_icd11foundation_lex.tsv index e55fc99b6..b660472a5 100644 --- a/src/ontology/lexmatch/unmapped_icd11foundation_lex.tsv +++ b/src/ontology/lexmatch/unmapped_icd11foundation_lex.tsv @@ -1300,8 +1300,6 @@ MONDO:0003627 rheumatic pulmonary valve disease icd11.foundation:1146446025 MOND MONDO:0003628 pulmonary valve disorder icd11.foundation:1146446025 MONDO:equivalentTo Pulmonary valve disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary valve disorder MONDO:0003630 pancreatic serous cystadenocarcinoma icd11.foundation:1624575808 MONDO:equivalentTo Serous cystadenocarcinoma of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym serous cystadenocarcinoma of pancreas MONDO:0003630 pancreatic serous cystadenocarcinoma icd11.foundation:1624575808 MONDO:equivalentTo Serous cystadenocarcinoma of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label serous cystadenocarcinoma of pancreas -MONDO:0003646 rectum neuroendocrine neoplasm icd11.foundation:1609550585 MONDO:equivalentTo Neuroendocrine tumour of rectum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neuroendocrine tumour of rectum -MONDO:0003646 rectum neuroendocrine neoplasm icd11.foundation:1609550585 MONDO:equivalentTo Neuroendocrine tumour of rectum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neuroendocrine tumour of rectum MONDO:0003646 rectum neuroendocrine neoplasm icd11.foundation:1619951900 MONDO:equivalentTo Rectal neuroendocrine neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rectal neuroendocrine neoplasm MONDO:0003646 rectum neuroendocrine neoplasm icd11.foundation:1619951900 MONDO:equivalentTo Rectal neuroendocrine neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rectal neuroendocrine neoplasm MONDO:0003649 esophageal neuroendocrine tumor icd11.foundation:1167478749 MONDO:equivalentTo Neuroendocrine tumour of oesophagus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neuroendocrine tumour of oesophagus @@ -1511,8 +1509,6 @@ MONDO:0004582 rheumatic myocarditis icd11.foundation:573695921 MONDO:equivalentT MONDO:0004582 rheumatic myocarditis icd11.foundation:573695921 MONDO:equivalentTo Acute rheumatic myocarditis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute rheumatic myocarditis MONDO:0004584 maple bark strippers' lung icd11.foundation:824050477 MONDO:equivalentTo Maple bark stripper lung semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alveolitis due to cryptostroma corticale MONDO:0004586 rheumatoid lung disease icd11.foundation:2000006803 MONDO:equivalentTo Respiratory disorders in rheumatoid arthritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym rheumatoid lung disorder -MONDO:0004587 hereditary night blindness icd11.foundation:984060688 MONDO:equivalentTo Congenital night blindness semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital night blindness -MONDO:0004587 hereditary night blindness icd11.foundation:984060688 MONDO:equivalentTo Congenital night blindness semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital night blindness MONDO:0004591 impetigo herpetiformis icd11.foundation:1405116325 MONDO:equivalentTo Generalised pustular psoriasis of pregnancy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym impetigo herpetiformis MONDO:0004593 Bartholin duct cyst icd11.foundation:1632013194 MONDO:equivalentTo Cyst of Bartholin gland semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bartholin duct cyst MONDO:0004594 puerperal pulmonary embolism icd11.foundation:1983458616 MONDO:equivalentTo Obstetric blood-clot pulmonary embolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym puerperal pulmonary embolism @@ -2810,9 +2806,6 @@ MONDO:0007488 Lewy body dementia icd11.foundation:2091156678 MONDO:equivalentTo MONDO:0007488 Lewy body dementia icd11.foundation:2091156678 MONDO:equivalentTo Lewy body disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lewy body disorder MONDO:0007492 early-onset generalized limb-onset dystonia icd11.foundation:253658963 MONDO:equivalentTo Early onset torsion dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym early onset torsion dystonia MONDO:0007492 early-onset generalized limb-onset dystonia icd11.foundation:253658963 MONDO:equivalentTo Early onset torsion dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label early onset torsion dystonia -MONDO:0007495 dystonia 5 icd11.foundation:1143673207 MONDO:equivalentTo Autosomal dominant dopa-responsive dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant segawa syndrome -MONDO:0007495 dystonia 5 icd11.foundation:1143673207 MONDO:equivalentTo Autosomal dominant dopa-responsive dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dyt5a -MONDO:0007495 dystonia 5 icd11.foundation:1143673207 MONDO:equivalentTo Autosomal dominant dopa-responsive dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary progressive dystonia with marked diurnal fluctuation MONDO:0007510 Clouston syndrome icd11.foundation:1811429982 MONDO:equivalentTo Hidrotic ectodermal dysplasia, Clouston type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym clouston syndrome MONDO:0007510 Clouston syndrome icd11.foundation:1811429982 MONDO:equivalentTo Hidrotic ectodermal dysplasia, Clouston type semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym clouston syndrome MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type icd11.foundation:24232012 MONDO:equivalentTo Ehlers-Danlos syndrome, hypermobile type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ehlers-danlos syndrome type 3 @@ -4013,9 +4006,7 @@ MONDO:0011631 hemochromatosis type 4 icd11.foundation:1541297428 MONDO:equivalen MONDO:0011638 neuroferritinopathy icd11.foundation:55060925 MONDO:equivalentTo Chorea due to neuroferritinopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adult basal ganglia disorder MONDO:0011638 neuroferritinopathy icd11.foundation:55060925 MONDO:equivalentTo Chorea due to neuroferritinopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ferritin-related neurodegeneration MONDO:0011638 neuroferritinopathy icd11.foundation:55060925 MONDO:equivalentTo Chorea due to neuroferritinopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary ferritinopathy -MONDO:0011652 Phelan-McDermid syndrome icd11.foundation:1667492731 MONDO:equivalentTo 22q13 deletion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 22q13 deletion MONDO:0011652 Phelan-McDermid syndrome icd11.foundation:1667492731 MONDO:equivalentTo 22q13 deletion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym phelan-mcdermid syndrome -MONDO:0011652 Phelan-McDermid syndrome icd11.foundation:1667492731 MONDO:equivalentTo 22q13 deletion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 22q13 deletion MONDO:0011652 Phelan-McDermid syndrome icd11.foundation:1667492731 MONDO:equivalentTo 22q13 deletion semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym phelan-mcdermid syndrome MONDO:0011662 pathological gambling icd11.foundation:1041487064 MONDO:equivalentTo Gambling disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym compulsive gambling MONDO:0011662 pathological gambling icd11.foundation:1041487064 MONDO:equivalentTo Gambling disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pathological gambling @@ -4440,7 +4431,6 @@ MONDO:0015053 hereditary angioedema type 1 icd11.foundation:1918767567 MONDO:equ MONDO:0015054 hereditary angioedema type 2 icd11.foundation:2078615244 MONDO:equivalentTo Hereditary angioedema type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary angioneurotic oedema type 2 MONDO:0015059 progressive non-fluent aphasia icd11.foundation:2073597518 MONDO:equivalentTo Frontotemporal dementia, non-fluent or agrammatic variant semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym progressive non-fluent aphasia MONDO:0015063 duodenal neuroendocrine tumor, well differentiated, low or intermediate grade icd11.foundation:123604718 MONDO:equivalentTo Neuroendocrine tumour of duodenum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym duodenal neuroendocrine tumour -MONDO:0015068 neuroendocrine tumor of rectum, well differentiated, low or intermediate grade icd11.foundation:1619951900 MONDO:equivalentTo Rectal neuroendocrine neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rectal neuroendocrine tumour MONDO:0015069 neuroendocrine tumor of the anal canal icd11.foundation:1961674648 MONDO:equivalentTo Anal endocrine tumour semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anal neuroendocrine tumour MONDO:0015087 autosomal dominant complex spastic paraplegia icd11.foundation:873077851 MONDO:equivalentTo Autosomal dominant complex hereditary spastic paraplegia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant complex hereditary spastic paraplegia MONDO:0015087 autosomal dominant complex spastic paraplegia icd11.foundation:873077851 MONDO:equivalentTo Autosomal dominant complex hereditary spastic paraplegia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant complex hereditary spastic paraplegia @@ -4647,6 +4637,8 @@ MONDO:0016259 carcinosarcoma of the corpus uteri icd11.foundation:1711927798 MON MONDO:0016262 leiomyosarcoma of the corpus uteri icd11.foundation:1872567422 MONDO:equivalentTo Leiomyosarcoma of uterus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leiomyosarcoma of uterus MONDO:0016262 leiomyosarcoma of the corpus uteri icd11.foundation:1872567422 MONDO:equivalentTo Leiomyosarcoma of uterus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym uterine leiomyosarcoma MONDO:0016262 leiomyosarcoma of the corpus uteri icd11.foundation:1872567422 MONDO:equivalentTo Leiomyosarcoma of uterus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label leiomyosarcoma of uterus +MONDO:0016293 congenital stationary night blindness icd11.foundation:984060688 MONDO:equivalentTo Congenital night blindness semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital night blindness +MONDO:0016293 congenital stationary night blindness icd11.foundation:984060688 MONDO:equivalentTo Congenital night blindness semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital night blindness MONDO:0016304 classic pantothenate kinase-associated neurodegeneration icd11.foundation:453750085 MONDO:equivalentTo Classic pantothenate kinase associated neurodegeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neurodegeneration with brain iron accumulation type 1, classic form MONDO:0016305 atypical pantothenate kinase-associated neurodegeneration icd11.foundation:267298136 MONDO:equivalentTo Atypical pantothenate kinase associated neurodegeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neurodegeneration with brain iron accumulation type 1, atypical form MONDO:0016315 mucopolysaccharidosis type 2, severe form icd11.foundation:1561374771 MONDO:equivalentTo Mucopolysaccharidosis type 2A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hunter syndrome type a @@ -5527,8 +5519,6 @@ MONDO:0022697 athetoid cerebral palsy icd11.foundation:812740125 MONDO:equivalen MONDO:0022697 athetoid cerebral palsy icd11.foundation:812740125 MONDO:equivalentTo Dyskinetic cerebral palsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dyskinetic cerebral palsy MONDO:0022697 athetoid cerebral palsy icd11.foundation:812740125 MONDO:equivalentTo Dyskinetic cerebral palsy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym athetoid cerebral palsy MONDO:0022790 cleft tongue icd11.foundation:340312243 MONDO:equivalentTo Bifid tongue semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cleft tongue -MONDO:0023122 familial prostate carcinoma icd11.foundation:1593240346 MONDO:equivalentTo Familial prostate cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial prostate cancer -MONDO:0023122 familial prostate carcinoma icd11.foundation:1593240346 MONDO:equivalentTo Familial prostate cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial prostate cancer MONDO:0023286 graphite pneumoconiosis icd11.foundation:1776868524 MONDO:equivalentTo Graphite fibrosis of lung semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym graphite fibrosis of lung MONDO:0023286 graphite pneumoconiosis icd11.foundation:1776868524 MONDO:equivalentTo Graphite fibrosis of lung semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym graphite pneumoconiosis MONDO:0023286 graphite pneumoconiosis icd11.foundation:1776868524 MONDO:equivalentTo Graphite fibrosis of lung semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label graphite fibrosis of lung @@ -5561,7 +5551,6 @@ MONDO:0024331 colorectal carcinoma icd11.foundation:773139368 MONDO:equivalentTo MONDO:0024332 perennial allergic rhinitis icd11.foundation:1240368805 MONDO:equivalentTo Nonseasonal allergic rhinitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nonseasonal allergic rhinitis MONDO:0024332 perennial allergic rhinitis icd11.foundation:1240368805 MONDO:equivalentTo Nonseasonal allergic rhinitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nonseasonal allergic rhinitis MONDO:0024354 cytomegalovirus pneumonia icd11.foundation:308444412 MONDO:equivalentTo Pneumonia due to Cytomegalovirus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cytomegaloviral pneumonia -MONDO:0024361 circadian rhythm sleep disorder icd11.foundation:1359329403 MONDO:equivalentTo Circadian rhythm sleep-wake disorders semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym disorders of the sleep-wake schedule MONDO:0024377 circadian rhythm sleep disorder, delayed sleep phase type icd11.foundation:1359329403 MONDO:equivalentTo Circadian rhythm sleep-wake disorders semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym delayed sleep phase syndrome MONDO:0024379 circadian rhythm sleep disorder, irregular sleep wake type icd11.foundation:1359329403 MONDO:equivalentTo Circadian rhythm sleep-wake disorders semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym irregular sleep-wake pattern MONDO:0024381 circadian rhythm sleep disorder, jet lag type icd11.foundation:1461346778 MONDO:equivalentTo Jet lag semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym jet lag diff --git a/src/ontology/lexmatch/unmapped_icd11foundation_lex_exact.tsv b/src/ontology/lexmatch/unmapped_icd11foundation_lex_exact.tsv index 67c255c14..a82ef0d76 100644 --- a/src/ontology/lexmatch/unmapped_icd11foundation_lex_exact.tsv +++ b/src/ontology/lexmatch/unmapped_icd11foundation_lex_exact.tsv @@ -1,2 +1,9 @@ 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:0971058 verruga peruana icd11.foundation:1480386521 MONDO:equivalentTo Verruga peruana semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label verruga peruana +MONDO:0971063 autosomal dominant dopa-responsive dystonia icd11.foundation:1143673207 MONDO:equivalentTo Autosomal dominant dopa-responsive dystonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant dopa-responsive dystonia +MONDO:0971107 common arterial trunk with aortic dominance icd11.foundation:551770382 MONDO:equivalentTo Common arterial trunk with aortic dominance semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label common arterial trunk with aortic dominance +MONDO:0971108 common arterial trunk with pulmonary dominance and interrupted aortic arch icd11.foundation:97579611 MONDO:equivalentTo Common arterial trunk with pulmonary dominance and interrupted aortic arch semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label common arterial trunk with pulmonary dominance and interrupted aortic arch +MONDO:0971127 diffuse unilateral subacute neuroretinitis icd11.foundation:1362820694 MONDO:equivalentTo Diffuse unilateral subacute neuroretinitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse unilateral subacute neuroretinitis +MONDO:0971128 multiple evanescent white dot syndrome icd11.foundation:1817745681 MONDO:equivalentTo Multiple Evanescent White Dot Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple evanescent white dot syndrome +MONDO:1050000 sycosis barbae icd11.foundation:1245506993 MONDO:equivalentTo Sycosis barbae semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sycosis barbae diff --git a/src/ontology/lexmatch/unmapped_ncit_lex_exact.tsv b/src/ontology/lexmatch/unmapped_ncit_lex_exact.tsv index 4959e1fe2..379566778 100644 --- a/src/ontology/lexmatch/unmapped_ncit_lex_exact.tsv +++ b/src/ontology/lexmatch/unmapped_ncit_lex_exact.tsv @@ -67,4 +67,6 @@ MONDO:0958300 round cell sarcoma with EWSR1-PATZ1 gene fusion NCIT:C178461 MONDO MONDO:0958301 round cell sarcoma with FUS-NFATC2 gene fusion NCIT:C178462 MONDO:equivalentTo Round Cell Sarcoma with FUS-NFATC2 Gene Fusion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label round cell sarcoma with fus-nfatc2 gene fusion MONDO:0958302 TFEB-rearranged renal cell carcinoma NCIT:C37210 MONDO:equivalentTo TFEB-Rearranged Renal Cell Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tfeb-rearranged renal cell carcinoma MONDO:0958303 childhood renal cell carcinoma with MiT translocations NCIT:C189242 MONDO:equivalentTo Childhood Renal Cell Carcinoma with MiT Translocations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label childhood renal cell carcinoma with mit translocations +MONDO:0971056 ocular surface squamous neoplasia NCIT:C176043 MONDO:equivalentTo Ocular Surface Squamous Neoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ocular surface squamous neoplasia +MONDO:0971143 pleural mesothelioma in situ NCIT:C183134 MONDO:equivalentTo Pleural Mesothelioma In Situ semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pleural mesothelioma in situ MONDO:1040026 metastatic malignant neoplasm in the brain NCIT:C3813 MONDO:equivalentTo Metastatic Malignant Neoplasm in the Brain semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metastatic malignant neoplasm in the brain diff --git a/src/ontology/lexmatch/unmapped_ordo_lex.tsv b/src/ontology/lexmatch/unmapped_ordo_lex.tsv index 2373157b0..67c255c14 100644 --- a/src/ontology/lexmatch/unmapped_ordo_lex.tsv +++ b/src/ontology/lexmatch/unmapped_ordo_lex.tsv @@ -1,4 +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:0009902 cutaneous porphyria Orphanet:659681 MONDO:equivalentTo Erythropoietic porphyria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym erythropoietic porphyria -MONDO:0009902 cutaneous porphyria Orphanet:659681 MONDO:equivalentTo Erythropoietic porphyria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label erythropoietic porphyria diff --git a/src/ontology/metadata/doid-metrics.json b/src/ontology/metadata/doid-metrics.json index 371fbd850..4ec413a2b 100644 --- a/src/ontology/metadata/doid-metrics.json +++ b/src/ontology/metadata/doid-metrics.json @@ -4,10 +4,10 @@ "abox_axiom_count_incl": 0, "annotation_property_count": 27, "annotation_property_count_incl": 27, - "axiom_count": 129102, - "axiom_count_incl": 129102, - "class_count": 13160, - "class_count_incl": 13160, + "axiom_count": 129444, + "axiom_count_incl": 129444, + "class_count": 13204, + "class_count_incl": 13204, "dataproperty_count": 0, "dataproperty_count_incl": 0, "datatypes_count": 2, @@ -20,13 +20,13 @@ "expressivity_incl": "C", "individual_count": 0, "individual_count_incl": 0, - "logical_axiom_count": 16223, - "logical_axiom_count_incl": 16223, + "logical_axiom_count": 16297, + "logical_axiom_count_incl": 16297, "obj_property_count": 0, "obj_property_count_incl": 0, "ontology_anno_count": 11, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/doid.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-08-13/doid.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-09-06/doid.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, @@ -37,13 +37,13 @@ "rdfs": false, "rule_count": 0, "rule_count_incl": 0, - "signature_entity_count": 13189, - "signature_entity_count_incl": 13189, + "signature_entity_count": 13233, + "signature_entity_count_incl": 13233, "syntax": "RDF/XML Syntax", - "tbox_axiom_count": 16223, - "tbox_axiom_count_incl": 16223, - "tboxrbox_axiom_count": 16223, - "tboxrbox_axiom_count_incl": 16223, + "tbox_axiom_count": 16297, + "tbox_axiom_count_incl": 16297, + "tboxrbox_axiom_count": 16297, + "tboxrbox_axiom_count_incl": 16297, "axiom_types": [ "AnnotationAssertion", "SubAnnotationPropertyOf", @@ -67,24 +67,24 @@ "valid_imports": [], "valid_imports_incl": [], "axiom_type_count": { - "AnnotationAssertion": 99692, + "AnnotationAssertion": 99916, "SubAnnotationPropertyOf": 1, "DisjointClasses": 26, - "Declaration": 13186, - "SubClassOf": 16197 + "Declaration": 13230, + "SubClassOf": 16271 }, "axiom_type_count_incl": { - "AnnotationAssertion": 99692, + "AnnotationAssertion": 99916, "SubAnnotationPropertyOf": 1, "DisjointClasses": 26, - "Declaration": 13186, - "SubClassOf": 16197 + "Declaration": 13230, + "SubClassOf": 16271 }, "class_expression_count": { - "Class": 45766 + "Class": 45958 }, "class_expression_count_incl": { - "Class": 45766 + "Class": 45958 }, "curie_map": { "oboInOwl": "http://www.geneontology.org/formats/oboInOwl#", @@ -110,44 +110,44 @@ "dc": "http://purl.org/dc/terms/" }, "namespace_axiom_count": { - "oboInOwl": 70326, - "owl": 2485, - "DOID": 44220, - "HP": 118, - "skos": 6086, + "oboInOwl": 70396, + "owl": 2489, + "DOID": 44400, + "HP": 114, + "skos": 6153, "CL": 62, - "rdfs": 19828, + "rdfs": 19907, "FOODON": 24, "NCBITaxon": 322, "TRANS": 13, "SYMP": 306, "dc11": 2, - "rdf": 61, - "IAO": 2227, + "rdf": 60, + "IAO": 2230, "CHEBI": 90, - "UBERON": 394, + "UBERON": 410, "SO": 17, "obo": 192, "GENO": 10, "dc": 1 }, "namespace_axiom_count_incl": { - "oboInOwl": 70326, - "owl": 2485, - "DOID": 44220, - "HP": 118, - "skos": 6086, + "oboInOwl": 70396, + "owl": 2489, + "DOID": 44400, + "HP": 114, + "skos": 6153, "CL": 62, - "rdfs": 19828, + "rdfs": 19907, "FOODON": 24, "NCBITaxon": 322, "TRANS": 13, "SYMP": 306, "dc11": 2, - "rdf": 61, - "IAO": 2227, + "rdf": 60, + "IAO": 2230, "CHEBI": 90, - "UBERON": 394, + "UBERON": 410, "SO": 17, "obo": 192, "GENO": 10, @@ -156,8 +156,8 @@ "namespace_entity_count": { "oboInOwl": 12, "owl": 2, - "DOID": 11614, - "HP": 118, + "DOID": 11646, + "HP": 114, "xsd": 1, "CL": 62, "skos": 5, @@ -170,7 +170,7 @@ "rdf": 1, "CHEBI": 90, "IAO": 2, - "UBERON": 394, + "UBERON": 410, "SO": 17, "obo": 191, "GENO": 10, @@ -179,8 +179,8 @@ "namespace_entity_count_incl": { "oboInOwl": 12, "owl": 2, - "DOID": 11614, - "HP": 118, + "DOID": 11646, + "HP": 114, "xsd": 1, "CL": 62, "skos": 5, @@ -193,7 +193,7 @@ "rdf": 1, "CHEBI": 90, "IAO": 2, - "UBERON": 394, + "UBERON": 410, "SO": 17, "obo": 191, "GENO": 10, diff --git a/src/ontology/metadata/gard-metrics.json b/src/ontology/metadata/gard-metrics.json index 048d3005e..55d282cc8 100644 --- a/src/ontology/metadata/gard-metrics.json +++ b/src/ontology/metadata/gard-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 1, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/gard.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-08-13/gard.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-09-06/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 3612cc5b8..ef3be2a2d 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": 5, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/icd10cm.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-08-13/icd10cm.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-09-06/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 ba61956ba..ee1012c41 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": 5, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/icd10who.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-08-13/icd10who.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-09-06/icd10who.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/metadata/icd11foundation-metrics.json b/src/ontology/metadata/icd11foundation-metrics.json index 6c99149a9..1d61ea44d 100644 --- a/src/ontology/metadata/icd11foundation-metrics.json +++ b/src/ontology/metadata/icd11foundation-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 5, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/icd11foundation.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-08-13/icd11foundation.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-09-06/icd11foundation.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/metadata/ncit-metrics.json b/src/ontology/metadata/ncit-metrics.json index 43ea86b94..322a9f3e5 100644 --- a/src/ontology/metadata/ncit-metrics.json +++ b/src/ontology/metadata/ncit-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 7, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/ncit.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-08-13/ncit.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-09-06/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 c99fdca6b..8e6ec7724 100644 --- a/src/ontology/metadata/omim-metrics.json +++ b/src/ontology/metadata/omim-metrics.json @@ -4,10 +4,10 @@ "abox_axiom_count_incl": 0, "annotation_property_count": 19, "annotation_property_count_incl": 19, - "axiom_count": 347317, - "axiom_count_incl": 347317, - "class_count": 19534, - "class_count_incl": 19534, + "axiom_count": 354395, + "axiom_count_incl": 354395, + "class_count": 22954, + "class_count_incl": 22954, "dataproperty_count": 0, "dataproperty_count_incl": 0, "datatypes_count": 2, @@ -20,13 +20,13 @@ "expressivity_incl": "E", "individual_count": 0, "individual_count_incl": 0, - "logical_axiom_count": 22779, - "logical_axiom_count_incl": 22779, + "logical_axiom_count": 26211, + "logical_axiom_count_incl": 26211, "obj_property_count": 7, "obj_property_count_incl": 7, "ontology_anno_count": 1, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/omim.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-08-13/omim.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-09-06/omim.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, @@ -37,13 +37,13 @@ "rdfs": false, "rule_count": 0, "rule_count_incl": 0, - "signature_entity_count": 19562, - "signature_entity_count_incl": 19562, + "signature_entity_count": 22982, + "signature_entity_count_incl": 22982, "syntax": "RDF/XML Syntax", - "tbox_axiom_count": 22779, - "tbox_axiom_count_incl": 22779, - "tboxrbox_axiom_count": 22779, - "tboxrbox_axiom_count_incl": 22779, + "tbox_axiom_count": 26211, + "tbox_axiom_count_incl": 26211, + "tboxrbox_axiom_count": 26211, + "tboxrbox_axiom_count_incl": 26211, "axiom_types": [ "AnnotationAssertion", "SubAnnotationPropertyOf", @@ -65,24 +65,24 @@ "valid_imports": [], "valid_imports_incl": [], "axiom_type_count": { - "AnnotationAssertion": 304981, + "AnnotationAssertion": 305207, "SubAnnotationPropertyOf": 1, - "Declaration": 19556, - "SubClassOf": 22779 + "Declaration": 22976, + "SubClassOf": 26211 }, "axiom_type_count_incl": { - "AnnotationAssertion": 304981, + "AnnotationAssertion": 305207, "SubAnnotationPropertyOf": 1, - "Declaration": 19556, - "SubClassOf": 22779 + "Declaration": 22976, + "SubClassOf": 26211 }, "class_expression_count": { - "Class": 65082, - "ObjectSomeValuesFrom": 17831 + "Class": 75366, + "ObjectSomeValuesFrom": 21258 }, "class_expression_count_incl": { - "Class": 65082, - "ObjectSomeValuesFrom": 17831 + "Class": 75366, + "ObjectSomeValuesFrom": 21258 }, "curie_map": { "oboInOwl": "http://www.geneontology.org/formats/oboInOwl#", @@ -99,35 +99,35 @@ "obo": "http://purl.obolibrary.org/obo/" }, "namespace_axiom_count": { - "prefix_unknown": 87969, - "oboInOwl": 90086, - "MONDO": 19091, - "rdf": 21030, + "prefix_unknown": 98248, + "oboInOwl": 90181, + "MONDO": 19114, + "rdf": 21040, "owl": 1366, "IAO": 55207, - "skos": 81178, - "rdfs": 40131, - "biolink": 36962, - "CHR": 7580, - "RO": 17838, + "skos": 81231, + "rdfs": 40169, + "biolink": 36999, + "CHR": 7585, + "RO": 21265, "obo": 2345 }, "namespace_axiom_count_incl": { - "prefix_unknown": 87969, - "oboInOwl": 90086, - "MONDO": 19091, - "rdf": 21030, + "prefix_unknown": 98248, + "oboInOwl": 90181, + "MONDO": 19114, + "rdf": 21040, "owl": 1366, "IAO": 55207, - "skos": 81178, - "rdfs": 40131, - "biolink": 36962, - "CHR": 7580, - "RO": 17838, + "skos": 81231, + "rdfs": 40169, + "biolink": 36999, + "CHR": 7585, + "RO": 21265, "obo": 2345 }, "namespace_entity_count": { - "prefix_unknown": 18092, + "prefix_unknown": 21512, "oboInOwl": 4, "owl": 2, "xsd": 1, @@ -142,7 +142,7 @@ "obo": 2 }, "namespace_entity_count_incl": { - "prefix_unknown": 18092, + "prefix_unknown": 21512, "oboInOwl": 4, "owl": 2, "xsd": 1, diff --git a/src/ontology/metadata/ordo-metrics.json b/src/ontology/metadata/ordo-metrics.json index 65ba08619..5e8eb27f5 100644 --- a/src/ontology/metadata/ordo-metrics.json +++ b/src/ontology/metadata/ordo-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 4, "ontology_anno_count": 12, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/ordo.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-08-13/ordo.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-09-06/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 858b48ec8..d41d794e5 100644 --- a/src/ontology/reports/component_signature-doid.tsv +++ b/src/ontology/reports/component_signature-doid.tsv @@ -893,7 +893,6 @@ - @@ -1746,7 +1745,6 @@ - @@ -2315,6 +2313,42 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + @@ -3419,7 +3453,6 @@ - @@ -4416,7 +4449,6 @@ - @@ -11834,7 +11866,6 @@ - @@ -11848,7 +11879,6 @@ - @@ -11900,14 +11930,12 @@ - - @@ -12822,7 +12850,11 @@ + + + + @@ -12836,6 +12868,7 @@ + @@ -12891,10 +12924,16 @@ + + + + + + @@ -13021,6 +13060,7 @@ + @@ -13062,6 +13102,7 @@ + @@ -13072,6 +13113,7 @@ + @@ -13148,6 +13190,7 @@ + @@ -13159,3 +13202,4 @@ + diff --git a/src/ontology/reports/component_signature-omim.tsv b/src/ontology/reports/component_signature-omim.tsv index 79d7b279e..118f3f92b 100644 --- a/src/ontology/reports/component_signature-omim.tsv +++ b/src/ontology/reports/component_signature-omim.tsv @@ -1,4 +1,3414 @@ ?term + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + 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b2a76bb75..6511c1dc5 100644 --- a/src/ontology/reports/doid.subclass.added-obsolete.robot.tsv +++ b/src/ontology/reports/doid.subclass.added-obsolete.robot.tsv @@ -169,6 +169,7 @@ MONDO:0005328 eye disorder MONDO:0005128 DOID:5614 DOID:0050155 obsolete sensory MONDO:0005340 alopecia areata MONDO:0017841 DOID:986 DOID:0060039 obsolete autoimmune disease with skin involvement MONDO:0005345 hypospadias MONDO:0000839 DOID:10892 DOID:0080015 obsolete congenital abnormality MONDO:0005453 congenital heart disease MONDO:0000839 DOID:1682 DOID:0080015 obsolete congenital abnormality +MONDO:0005516 osteochondrodysplasia MONDO:0005569 DOID:2256 DOID:1222 obsolete cartilage disease MONDO:0005569 obsolete cartilage disease MONDO:0003900 DOID:1222 DOID:65 connective tissue disorder MONDO:0005570 hematologic disorder MONDO:0021199 DOID:74 DOID:7 obsolete disease by anatomical system MONDO:0005711 congenital diaphragmatic hernia MONDO:0000839 DOID:3827 DOID:0080015 obsolete congenital abnormality diff --git a/src/ontology/reports/doid.subclass.added.robot.tsv b/src/ontology/reports/doid.subclass.added.robot.tsv index d04e66e2a..cde0aed7e 100644 --- a/src/ontology/reports/doid.subclass.added.robot.tsv +++ b/src/ontology/reports/doid.subclass.added.robot.tsv @@ -9,6 +9,8 @@ MONDO:0000127 geleophysic dysplasia MONDO:0005497 DOID:0111724 DOID:0080006 bone MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome MONDO:0002254 DOID:0090007 DOID:225 syndromic disease MONDO:0000160 epilepsy, familial adult myoclonic MONDO:0000415 DOID:0111689 DOID:0050705 adolescence-adult electroclinical syndrome MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A MONDO:0006025 DOID:0050560 DOID:0050737 autosomal recessive disease +MONDO:0000188 GLUT1 deficiency syndrome MONDO:0000429 DOID:0070560 DOID:0050739 autosomal genetic disease +MONDO:0000188 GLUT1 deficiency syndrome MONDO:0002908 DOID:0070560 DOID:4194 glucose metabolism disease MONDO:0000214 hypermanganesemia with dystonia MONDO:0004689 DOID:0080535 DOID:896 inborn metal metabolism disorder MONDO:0000243 ectothrix infectious disease MONDO:0002917 DOID:0050097 DOID:421 disorder of pilosebaceous unit MONDO:0000243 ectothrix infectious disease MONDO:0002967 DOID:0050097 DOID:4337 dermatophytosis of scalp or beard @@ -341,7 +343,7 @@ MONDO:0003136 anti-basement membrane glomerulonephritis MONDO:0009303 DOID:4780 MONDO:0003144 medulloepithelioma MONDO:0000640 DOID:4790 DOID:0060103 central nervous system primitive neuroectodermal neoplasm MONDO:0003164 cauda equina neoplasm MONDO:0003544 DOID:4847 DOID:5612 spinal cord cancer MONDO:0003165 cerebellar astrocytoma MONDO:0100342 DOID:4848 DOID:3070 malignant glioma -MONDO:0003182 anterior horn disorder MONDO:0001516 DOID:4873 DOID:12377 spinal muscular atrophy +MONDO:0003182 anterior horn disorder MONDO:0020128 DOID:4873 DOID:231 motor neuron disorder MONDO:0003192 rete ovarii neoplasm MONDO:0000624 DOID:4895 DOID:0060086 benign female reproductive system neoplasm MONDO:0003219 gastroesophageal junction adenocarcinoma MONDO:0850130 DOID:4944 DOID:0080375 gastroesophageal adenocarcinoma MONDO:0003223 meninges hemangiopericytoma MONDO:0016642 DOID:4957 DOID:3565 meningioma @@ -388,6 +390,7 @@ MONDO:0003423 middle ear adenoma MONDO:0850152 DOID:5387 DOID:0080619 auditory s MONDO:0003424 oncocytic adenoma MONDO:0000627 DOID:5389 DOID:0060089 benign endocrine neoplasm MONDO:0003428 brain hemangioma MONDO:0011057 DOID:5393 DOID:6713 cerebrovascular disorder MONDO:0003430 prolactin producing pituitary tumor MONDO:0017582 DOID:5396 DOID:4916 pituitary adenocarcinoma +MONDO:0003431 lipoadenoma MONDO:0000654 DOID:5398 DOID:0060123 benign connective and soft tissue neoplasm MONDO:0003432 strabismus MONDO:0004891 DOID:540 DOID:9834 hyperopia MONDO:0003434 vaginal adenoma MONDO:0000647 DOID:5402 DOID:0060114 benign vaginal neoplasm MONDO:0003435 microcystic adenoma MONDO:0002809 DOID:5403 DOID:3918 pancreatic cystadenoma @@ -560,6 +563,7 @@ MONDO:0004709 occipital lobe neoplasm MONDO:0002731 DOID:910 DOID:368 cerebral h MONDO:0004747 cleft lip MONDO:0004748 DOID:9296 DOID:9297 lip disorder MONDO:0004751 disease of orbital part of eye adnexa MONDO:0005381 DOID:930 DOID:0080001 bone disorder MONDO:0004756 nasal cavity neoplasm MONDO:0000382 DOID:9310 DOID:0050621 respiratory system benign neoplasm +MONDO:0004764 fibular collateral ligament bursitis MONDO:0005381 DOID:9358 DOID:0080001 bone disorder MONDO:0004765 intrinsic asthma MONDO:0850282 DOID:9360 DOID:0080809 chronic asthma MONDO:0004766 status asthmaticus MONDO:0850283 DOID:9362 DOID:0080810 acute asthma MONDO:0004779 epididymitis MONDO:0850128 DOID:9402 DOID:0080373 epididymis disease @@ -674,6 +678,7 @@ MONDO:0005791 herpangina MONDO:0006858 DOID:10883 DOID:403 mouth disorder MONDO:0005803 hyperinsulinemic hypoglycemia MONDO:0004946 DOID:13317 DOID:9993 hypoglycemia MONDO:0005815 pancreatic neuroendocrine neoplasm MONDO:0009831 DOID:1799 DOID:1793 malignant pancreatic neoplasm MONDO:0005829 louping ill MONDO:0005108 DOID:10250 DOID:934 viral infectious disease +MONDO:0005834 lymphogranuloma venereum MONDO:0018181 DOID:13819 DOID:9063 staphylococcal scalded skin syndrome MONDO:0005838 mansonelliasis MONDO:0005093 DOID:1081 DOID:37 skin disorder MONDO:0005841 maxillary neoplasm MONDO:0002131 DOID:4618 DOID:1862 jaw cancer MONDO:0005851 Miller Fisher syndrome MONDO:0016218 DOID:12889 DOID:12842 Guillain-Barre syndrome @@ -926,9 +931,7 @@ MONDO:0007473 Duane retraction syndrome MONDO:0003432 DOID:12557 DOID:540 strabi MONDO:0007485 dyskeratosis congenita, autosomal dominant 1 MONDO:0000426 DOID:0070014 DOID:0050736 autosomal dominant disease MONDO:0007492 early-onset generalized limb-onset dystonia MONDO:0000426 DOID:0060730 DOID:0050736 autosomal dominant disease MONDO:0007493 torsion dystonia 4 MONDO:0000426 DOID:0090041 DOID:0050736 autosomal dominant disease -MONDO:0007495 dystonia 5 MONDO:0000426 DOID:0060963 DOID:0050736 autosomal dominant disease MONDO:0007495 dystonia 5 MONDO:0000426 DOID:0090043 DOID:0050736 autosomal dominant disease -MONDO:0007495 dystonia 5 MONDO:0006025 DOID:0060963 DOID:0050737 autosomal recessive disease MONDO:0007495 dystonia 5 MONDO:0006025 DOID:0090043 DOID:0050737 autosomal recessive disease MONDO:0007496 dystonia 12 MONDO:0000426 DOID:0090056 DOID:0050736 autosomal dominant disease MONDO:0007507 absence of fingerprints-congenital milia syndrome MONDO:0019287 DOID:0080725 DOID:2121 ectodermal dysplasia syndrome @@ -983,6 +986,7 @@ MONDO:0007729 developmental dysplasia of the hip 1 MONDO:0000426 DOID:0060931 DO MONDO:0007733 holoprosencephaly 3 MONDO:0000426 DOID:0110875 DOID:0050736 autosomal dominant disease MONDO:0007734 holoprosencephaly 4 MONDO:0000426 DOID:0110880 DOID:0050736 autosomal dominant disease MONDO:0007744 cholesterol-ester transfer protein deficiency MONDO:0000426 DOID:0111369 DOID:0050736 autosomal dominant disease +MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 MONDO:0000426 DOID:0070552 DOID:0050736 autosomal dominant disease MONDO:0007762 hyperlipoproteinemia type V MONDO:0000426 DOID:0111421 DOID:0050736 autosomal dominant disease MONDO:0007762 hyperlipoproteinemia type V MONDO:0018637 DOID:0111421 DOID:0111417 familial chylomicronemia syndrome MONDO:0007763 nonpapillary renal cell carcinoma MONDO:0003008 DOID:0050387 DOID:4455 hereditary renal cell carcinoma @@ -1109,7 +1113,6 @@ MONDO:0008196 parastremmatic dwarfism MONDO:0000426 DOID:0111539 DOID:0050736 au MONDO:0008196 parastremmatic dwarfism MONDO:0005516 DOID:0111539 DOID:2256 osteochondrodysplasia MONDO:0008200 autosomal dominant Parkinson disease 1 MONDO:0000426 DOID:0060367 DOID:0050736 autosomal dominant disease MONDO:0008201 Perry syndrome MONDO:0000426 DOID:0060486 DOID:0050736 autosomal dominant disease -MONDO:0008214 Pelger-Huet anomaly MONDO:0005570 DOID:9631 DOID:74 hematologic disorder MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy MONDO:0000426 DOID:0060785 DOID:0050736 autosomal dominant disease MONDO:0008218 Hailey-Hailey disease MONDO:0000426 DOID:0050429 DOID:0050736 autosomal dominant disease MONDO:0008221 prolidase deficiency MONDO:0004736 DOID:0111540 DOID:9252 inborn disorder of amino acid metabolism @@ -1368,6 +1371,8 @@ MONDO:0009212 congenital factor X deficiency MONDO:0006025 DOID:2222 DOID:005073 MONDO:0009213 Fanconi anemia complementation group C MONDO:0006025 DOID:0111087 DOID:0050737 autosomal recessive disease MONDO:0009214 Fanconi anemia complementation group D2 MONDO:0006025 DOID:0111083 DOID:0050737 autosomal recessive disease MONDO:0009215 Fanconi anemia complementation group A MONDO:0006025 DOID:0111095 DOID:0050737 autosomal recessive disease +MONDO:0009216 glycogen storage disease due to GLUT2 deficiency MONDO:0002908 DOID:0070562 DOID:4194 glucose metabolism disease +MONDO:0009216 glycogen storage disease due to GLUT2 deficiency MONDO:0006025 DOID:0070562 DOID:0050737 autosomal recessive disease MONDO:0009223 hypogonadotropic hypogonadism 23 with or without anosmia MONDO:0006025 DOID:0090091 DOID:0050737 autosomal recessive disease MONDO:0009226 fibrochondrogenesis 1 MONDO:0006025 DOID:0080672 DOID:0050737 autosomal recessive disease MONDO:0009229 hyaline fibromatosis syndrome MONDO:0003900 DOID:0111669 DOID:65 connective tissue disorder @@ -1785,7 +1790,6 @@ MONDO:0010532 infantile-onset X-linked spinal muscular atrophy MONDO:0020605 DOI MONDO:0010533 Arts syndrome MONDO:0020119 DOID:0050647 DOID:0060309 X-linked syndromic intellectual disability MONDO:0010537 Borjeson-Forssman-Lehmann syndrome MONDO:0020605 DOID:0050681 DOID:0080012 X-linked recessive disease MONDO:0010538 Mononen-Karnes-Senac syndrome MONDO:0021004 DOID:0110973 DOID:0050581 brachydactyly -MONDO:0010542 dilated cardiomyopathy 3B MONDO:0000425 DOID:0081164 DOID:0050735 X-linked disease MONDO:0010542 dilated cardiomyopathy 3B MONDO:0000425 DOID:0110461 DOID:0050735 X-linked disease MONDO:0010543 Barth syndrome MONDO:0020605 DOID:0050476 DOID:0080012 X-linked recessive disease MONDO:0010544 cataract 40 MONDO:0000425 DOID:0110272 DOID:0050735 X-linked disease @@ -1797,6 +1801,7 @@ MONDO:0010550 Charcot-Marie-Tooth disease X-linked recessive 2 MONDO:0020605 DOI MONDO:0010551 Charcot-Marie-Tooth disease X-linked recessive 3 MONDO:0020605 DOID:0110211 DOID:0080012 X-linked recessive disease MONDO:0010554 Abruzzo-Erickson syndrome MONDO:0000425 DOID:0111826 DOID:0050735 X-linked disease MONDO:0010556 X-linked chondrodysplasia punctata MONDO:0020605 DOID:0060292 DOID:0080012 X-linked recessive disease +MONDO:0010559 MASA syndrome MONDO:0005560 DOID:0060246 DOID:936 brain disorder MONDO:0010559 MASA syndrome MONDO:0020605 DOID:0060246 DOID:0080012 X-linked recessive disease MONDO:0010560 cleft palate with or without ankyloglossia, X-linked MONDO:0000425 DOID:0060613 DOID:0050735 X-linked disease MONDO:0010561 Coffin-Lowry syndrome MONDO:0020604 DOID:3783 DOID:0080009 X-linked dominant disease @@ -1915,6 +1920,7 @@ MONDO:0010862 type 1 diabetes mellitus 4 MONDO:0005147 DOID:0110743 DOID:9744 ty MONDO:0010863 type 1 diabetes mellitus 5 MONDO:0005147 DOID:0110744 DOID:9744 type 1 diabetes mellitus MONDO:0010864 type 1 diabetes mellitus 7 MONDO:0005147 DOID:0110746 DOID:9744 type 1 diabetes mellitus MONDO:0010866 infantile osteopetrosis with neuroaxonal dysplasia MONDO:0002283 DOID:0070343 DOID:2367 neuroaxonal dystrophy +MONDO:0010870 tibial muscular dystrophy MONDO:0005381 DOID:0111078 DOID:0080001 bone disorder MONDO:0010877 Charcot-Marie-Tooth disease type 5 MONDO:0000426 DOID:0080067 DOID:0050736 autosomal dominant disease MONDO:0010877 Charcot-Marie-Tooth disease type 5 MONDO:0015626 DOID:0080067 DOID:10595 Charcot-Marie-Tooth disease MONDO:0010878 hereditary spastic paraplegia 6 MONDO:0000426 DOID:0110811 DOID:0050736 autosomal dominant disease @@ -1949,6 +1955,7 @@ MONDO:0010970 cardiac malformation, cleft lip/palate, microcephaly, and digital MONDO:0010970 cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies MONDO:0002254 DOID:0111697 DOID:225 syndromic disease MONDO:0010974 nephrotic syndrome, type 2 MONDO:0006025 DOID:0080379 DOID:0050737 autosomal recessive disease MONDO:0010977 Brody myopathy MONDO:0004714 DOID:0050692 DOID:913 atrophic muscular disease +MONDO:0010983 dystonia 9 MONDO:0000188 DOID:0090044 DOID:0070560 GLUT1 deficiency syndrome MONDO:0010983 dystonia 9 MONDO:0000426 DOID:0090044 DOID:0050736 autosomal dominant disease MONDO:0010985 epilepsy, familial adult myoclonic, 1 MONDO:0000426 DOID:0111690 DOID:0050736 autosomal dominant disease MONDO:0010992 Ayme-Gripp syndrome MONDO:0000426 DOID:0111688 DOID:0050736 autosomal dominant disease @@ -2144,6 +2151,7 @@ MONDO:0011633 Charcot-Marie-Tooth disease axonal type 2C MONDO:0000426 DOID:0110 MONDO:0011636 Diamond-Blackfan anemia 2 MONDO:0000426 DOID:0111885 DOID:0050736 autosomal dominant disease MONDO:0011638 neuroferritinopathy MONDO:0000426 DOID:0110737 DOID:0050736 autosomal dominant disease MONDO:0011639 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis MONDO:0000426 DOID:0111894 DOID:0050736 autosomal dominant disease +MONDO:0011652 Phelan-McDermid syndrome MONDO:0000761 DOID:0080354 DOID:0060388 syndrome caused by partial chromosomal deletion MONDO:0011655 alveolar soft part sarcoma MONDO:0002847 DOID:4239 DOID:4043 skeletal muscle cancer MONDO:0011656 paget disease of bone 4 MONDO:0000426 DOID:0081367 DOID:0050736 autosomal dominant disease MONDO:0011658 autosomal recessive early-onset Parkinson disease 7 MONDO:0006025 DOID:0060370 DOID:0050737 autosomal recessive disease @@ -2160,6 +2168,8 @@ MONDO:0011720 spermatogenic failure 3 MONDO:0000426 DOID:0070168 DOID:0050736 au MONDO:0011721 distal myopathy with anterior tibial onset MONDO:0006025 DOID:0111187 DOID:0050737 autosomal recessive disease MONDO:0011730 fumaric aciduria MONDO:0004736 DOID:0111261 DOID:9252 inborn disorder of amino acid metabolism MONDO:0011730 fumaric aciduria MONDO:0006025 DOID:0111261 DOID:0050737 autosomal recessive disease +MONDO:0011731 glucose-galactose malabsorption MONDO:0002908 DOID:0070563 DOID:4194 glucose metabolism disease +MONDO:0011731 glucose-galactose malabsorption MONDO:0006025 DOID:0070563 DOID:0050737 autosomal recessive disease MONDO:0011735 hyper-IgM syndrome type 3 MONDO:0006025 DOID:0060023 DOID:0050737 autosomal recessive disease MONDO:0011738 bilateral frontoparietal polymicrogyria MONDO:0006025 DOID:0080922 DOID:0050737 autosomal recessive disease MONDO:0011740 Carney-Stratakis syndrome MONDO:0000426 DOID:0080533 DOID:0050736 autosomal dominant disease @@ -2346,6 +2356,8 @@ MONDO:0012487 alopecia-intellectual disability syndrome 2 MONDO:0006025 DOID:008 MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type MONDO:0006025 DOID:0080576 DOID:0050737 autosomal recessive disease MONDO:0012498 congenital stationary night blindness autosomal dominant 1 MONDO:0000426 DOID:0110862 DOID:0050736 autosomal dominant disease MONDO:0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome MONDO:0002254 DOID:0111160 DOID:225 syndromic disease +MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 MONDO:0000426 DOID:0070547 DOID:0050736 autosomal dominant disease +MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 MONDO:0000426 DOID:0070546 DOID:0050736 autosomal dominant disease MONDO:0012510 combined oxidative phosphorylation defect type 2 MONDO:0006025 DOID:0111483 DOID:0050737 autosomal recessive disease MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 MONDO:0006025 DOID:0111486 DOID:0050737 autosomal recessive disease MONDO:0012514 hypomyelinating leukodystrophy 5 MONDO:0006025 DOID:0060793 DOID:0050737 autosomal recessive disease @@ -2940,6 +2952,8 @@ MONDO:0014268 combined immunodeficiency due to OX40 deficiency MONDO:0006025 DOI MONDO:0014269 combined oxidative phosphorylation deficiency 19 MONDO:0006025 DOID:0111476 DOID:0050737 autosomal recessive disease MONDO:0014270 STT3A-congenital disorder of glycosylation MONDO:0006025 DOID:0080572 DOID:0050737 autosomal recessive disease MONDO:0014271 STT3B-congenital disorder of glycosylation MONDO:0006025 DOID:0080573 DOID:0050737 autosomal recessive disease +MONDO:0014272 palmoplantar keratoderma, Nagashima type MONDO:0006025 DOID:0070555 DOID:0050737 autosomal recessive disease +MONDO:0014272 palmoplantar keratoderma, Nagashima type MONDO:0010962 DOID:0070555 DOID:0050428 diffuse nonepidermolytic palmoplantar keratoderma MONDO:0014273 microcephaly-thin corpus callosum-intellectual disability syndrome MONDO:0019502 DOID:0081205 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0014275 Fanconi renotubular syndrome 3 MONDO:0000426 DOID:0080759 DOID:0050736 autosomal dominant disease MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency MONDO:0001222 DOID:0111973 DOID:11200 congenital T-cell immunodeficiency @@ -2987,6 +3001,7 @@ MONDO:0014353 immunodeficiency 23 MONDO:0006025 DOID:0111953 DOID:0050737 autoso MONDO:0014353 immunodeficiency 23 MONDO:0015131 DOID:0111953 DOID:628 combined immunodeficiency MONDO:0014357 intellectual disability, autosomal dominant 24 MONDO:0015802 DOID:0070054 DOID:0060307 autosomal dominant non-syndromic intellectual disability MONDO:0014358 AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome MONDO:0015802 DOID:0070055 DOID:0060307 autosomal dominant non-syndromic intellectual disability +MONDO:0014359 pigmented nodular adrenocortical disease, primary, 4 MONDO:0000426 DOID:0070549 DOID:0050736 autosomal dominant disease MONDO:0014360 developmental and epileptic encephalopathy, 21 MONDO:0006025 DOID:0080443 DOID:0050737 autosomal recessive disease MONDO:0014361 autism spectrum disorder due to AUTS2 deficiency MONDO:0015802 DOID:0070056 DOID:0060307 autosomal dominant non-syndromic intellectual disability MONDO:0014365 spermatogenic failure 13 MONDO:0006025 DOID:0070182 DOID:0050737 autosomal recessive disease @@ -3041,6 +3056,8 @@ MONDO:0014486 intellectual disability, autosomal dominant 30 MONDO:0015802 DOID: MONDO:0014487 congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome MONDO:0006025 DOID:0080209 DOID:0050737 autosomal recessive disease MONDO:0014491 immunodeficiency 37 MONDO:0006025 DOID:0111939 DOID:0050737 autosomal recessive disease MONDO:0014491 immunodeficiency 37 MONDO:0015131 DOID:0111939 DOID:628 combined immunodeficiency +MONDO:0014492 wooly hair-palmoplantar keratoderma syndrome MONDO:0006025 DOID:0070554 DOID:0050737 autosomal recessive disease +MONDO:0014492 wooly hair-palmoplantar keratoderma syndrome MONDO:0010962 DOID:0070554 DOID:0050428 diffuse nonepidermolytic palmoplantar keratoderma MONDO:0014494 psoriasis 15, pustular, susceptibility to MONDO:0005083 DOID:0111281 DOID:8893 psoriasis MONDO:0014498 familial cold autoinflammatory syndrome 4 MONDO:0000426 DOID:0090065 DOID:0050736 autosomal dominant disease MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency MONDO:0003778 DOID:0111934 DOID:612 inborn error of immunity @@ -3401,6 +3418,7 @@ MONDO:0017376 reactive arthritis MONDO:0000589 DOID:6196 DOID:0060032 autoimmune MONDO:0017398 3MC syndrome MONDO:0002254 DOID:0060225 DOID:225 syndromic disease MONDO:0017398 3MC syndrome MONDO:0006025 DOID:0060225 DOID:0050737 autosomal recessive disease MONDO:0017415 multiple pterygium syndrome MONDO:0002254 DOID:0080110 DOID:225 syndromic disease +MONDO:0017415 multiple pterygium syndrome MONDO:0005093 DOID:0080110 DOID:37 skin disorder MONDO:0017435 popliteal pterygium syndrome MONDO:0000426 DOID:0060055 DOID:0050736 autosomal dominant disease MONDO:0017436 lethal congenital contracture syndrome MONDO:0002254 DOID:0060558 DOID:225 syndromic disease MONDO:0017436 lethal congenital contracture syndrome MONDO:0006025 DOID:0060558 DOID:0050737 autosomal recessive disease @@ -3570,6 +3588,7 @@ MONDO:0019948 reducing body myopathy MONDO:0020604 DOID:0080090 DOID:0080009 X-l MONDO:0019976 dementia pugilistica MONDO:0005574 DOID:0081291 DOID:680 tauopathy MONDO:0019978 Robinow syndrome MONDO:0000429 DOID:0060254 DOID:0050739 autosomal genetic disease MONDO:0020068 postinfectious encephalitis MONDO:0000568 DOID:10993 DOID:0060004 autoimmune disorder of central nervous system +MONDO:0020121 muscular dystrophy MONDO:0010977 DOID:9884 DOID:0050692 Brody myopathy MONDO:0020135 pontocerebellar hypoplasia MONDO:0005559 DOID:0060264 DOID:1289 neurodegenerative disease MONDO:0020143 cerebral lipidosis with dementia MONDO:0022687 DOID:10742 DOID:1443 cerebellar degeneration MONDO:0020291 hypoplastic right heart syndrome MONDO:0005453 DOID:0070315 DOID:1682 congenital heart disease @@ -3609,6 +3628,8 @@ MONDO:0020730 carpal tunnel syndrome 1 MONDO:0000426 DOID:0070466 DOID:0050736 a MONDO:0020737 optic atrophy 10 with or without ataxia, intellectual disability, and seizures MONDO:0000426 DOID:0111434 DOID:0050736 autosomal dominant disease MONDO:0020738 multiple benign circumferential skin creases on limbs 1 MONDO:0000426 DOID:0112242 DOID:0050736 autosomal dominant disease MONDO:0020740 ectodermal dysplasia and immunodeficiency 1 MONDO:0020605 DOID:0081078 DOID:0080012 X-linked recessive disease +MONDO:0020748 sitosterolemia 2 MONDO:0005020 DOID:0060983 DOID:5295 intestinal disorder +MONDO:0020748 sitosterolemia 2 MONDO:0006025 DOID:0060983 DOID:0050737 autosomal recessive disease MONDO:0020772 epilepsy, juvenile absence, susceptibility to, 1 MONDO:0800453 DOID:0111324 DOID:0060172 juvenile absence epilepsy MONDO:0020791 corneal dystrophy, Meesmann, 1 MONDO:0000426 DOID:0080670 DOID:0050736 autosomal dominant disease MONDO:0020793 oculopharyngodistal myopathy 1 MONDO:0000426 DOID:0081297 DOID:0050736 autosomal dominant disease @@ -3759,6 +3780,8 @@ MONDO:0030307 spermatogenic failure 55 MONDO:0006025 DOID:0112337 DOID:0050737 a MONDO:0030311 combined oxidative phosphorylation deficiency 52 MONDO:0006025 DOID:0070425 DOID:0050737 autosomal recessive disease MONDO:0030326 mitochondrial dna depletion syndrome 16B (neuroophthalmic type) MONDO:0006025 DOID:0070447 DOID:0050737 autosomal recessive disease MONDO:0030366 cardiomyopathy, dilated, 2E MONDO:0006025 DOID:0081161 DOID:0050737 autosomal recessive disease +MONDO:0030374 WHIM syndrome 2 MONDO:0003778 DOID:0060973 DOID:612 inborn error of immunity +MONDO:0030374 WHIM syndrome 2 MONDO:0006025 DOID:0060973 DOID:0050737 autosomal recessive disease MONDO:0030378 combined oxidative phosphorylation deficiency 53 MONDO:0006025 DOID:0070426 DOID:0050737 autosomal recessive disease MONDO:0030430 spermatogenic failure 56 MONDO:0006025 DOID:0112336 DOID:0050737 autosomal recessive disease MONDO:0030438 pontocerebellar hypoplasia, type 16 MONDO:0006025 DOID:0112333 DOID:0050737 autosomal recessive disease @@ -3942,6 +3965,7 @@ MONDO:0032790 neurodevelopmental disorder with coarse facies and mild distal ske MONDO:0032796 hyper-IgE recurrent infection syndrome 4, autosomal recessive MONDO:0006025 DOID:0080596 DOID:0050737 autosomal recessive disease MONDO:0032797 myopathy, congenital, with tremor MONDO:0000426 DOID:0081348 DOID:0050736 autosomal dominant disease MONDO:0032799 mitochondrial DNA depletion syndrome 16 (hepatic type) MONDO:0006025 DOID:0070446 DOID:0050737 autosomal recessive disease +MONDO:0032800 robinow syndrome, autosomal recessive 2 MONDO:0006025 DOID:0060974 DOID:0050737 autosomal recessive disease MONDO:0032801 erythrokeratodermia variabilis et progressiva 6 MONDO:0000426 DOID:0080766 DOID:0050736 autosomal dominant disease MONDO:0032803 immunodeficiency 64 MONDO:0006025 DOID:0111980 DOID:0050737 autosomal recessive disease MONDO:0032804 ectodermal dysplasia 15, hypohidrotic/hair type MONDO:0006025 DOID:0111651 DOID:0050737 autosomal recessive disease @@ -4129,6 +4153,7 @@ MONDO:0044311 brachycephaly, trichomegaly, and developmental delay MONDO:0000426 MONDO:0044311 brachycephaly, trichomegaly, and developmental delay MONDO:0002254 DOID:0070415 DOID:225 syndromic disease MONDO:0044315 craniosynostosis 7 MONDO:0015469 DOID:0060912 DOID:2340 craniosynostosis MONDO:0044317 premature ovarian failure 13 MONDO:0006025 DOID:0080870 DOID:0050737 autosomal recessive disease +MONDO:0044325 Fanconi anemia, complementation group W MONDO:0006025 DOID:0060978 DOID:0050737 autosomal recessive disease MONDO:0044326 developmental delay and seizures with or without movement abnormalities MONDO:0000508 DOID:0080473 DOID:0050888 syndromic intellectual disability MONDO:0044329 osteogenesis imperfecta, type 18 MONDO:0006025 DOID:0111848 DOID:0050737 autosomal recessive disease MONDO:0044330 hyperekplexia 4 MONDO:0006025 DOID:0080581 DOID:0050737 autosomal recessive disease @@ -4182,6 +4207,7 @@ MONDO:0054733 spermatogenic failure 29 MONDO:0006025 DOID:0111930 DOID:0050737 a MONDO:0054736 mosaic variegated aneuploidy syndrome 3 MONDO:0006025 DOID:0080689 DOID:0050737 autosomal recessive disease MONDO:0054741 combined oxidative phosphorylation deficiency 34 MONDO:0006025 DOID:0111497 DOID:0050737 autosomal recessive disease MONDO:0054742 combined oxidative phosphorylation deficiency 35 MONDO:0006025 DOID:0111464 DOID:0050737 autosomal recessive disease +MONDO:0054748 Fanconi anemia, complementation group S MONDO:0006025 DOID:0060979 DOID:0050737 autosomal recessive disease MONDO:0054750 amyotrophic lateral sclerosis, susceptibility to, 24 MONDO:0000426 DOID:0081378 DOID:0050736 autosomal dominant disease MONDO:0054750 amyotrophic lateral sclerosis, susceptibility to, 24 MONDO:0004976 DOID:0081378 DOID:332 amyotrophic lateral sclerosis MONDO:0054770 orofaciodigital syndrome 18 MONDO:0006025 DOID:0060961 DOID:0050737 autosomal recessive disease @@ -4278,7 +4304,7 @@ MONDO:0700251 orofacial cleft 7 MONDO:0006025 DOID:0080400 DOID:0050737 autosoma MONDO:0800025 Teebi hypertelorism syndrome 1 MONDO:0000426 DOID:0080698 DOID:0050736 autosomal dominant disease MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease MONDO:0000426 DOID:0060731 DOID:0050736 autosomal dominant disease MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 MONDO:0000426 DOID:0080523 DOID:0050736 autosomal dominant disease -MONDO:0800029 interstitial lung disease 2 MONDO:0000426 DOID:0050156 DOID:0050736 autosomal dominant disease +MONDO:0800029 interstitial lung disease 2 MONDO:0000426 DOID:0060971 DOID:0050736 autosomal dominant disease MONDO:0800042 restrictive dermopathy 1 MONDO:0006025 DOID:0070369 DOID:0050737 autosomal recessive disease MONDO:0800044 congenital disorder of deglycosylation 1 MONDO:0006025 DOID:0060728 DOID:0050737 autosomal recessive disease MONDO:0800045 autoinflammatory syndrome, familial, Behcet-like 1 MONDO:0000426 DOID:0080944 DOID:0050736 autosomal dominant disease @@ -4337,6 +4363,8 @@ MONDO:0859314 developmental and epileptic encephalopathy 108 MONDO:0000426 DOID: MONDO:0859323 combined oxidative phosphorylation deficiency 56 MONDO:0006025 DOID:0070429 DOID:0050737 autosomal recessive disease MONDO:0859325 developmental and epileptic encephalopathy 109 MONDO:0000426 DOID:0070378 DOID:0050736 autosomal dominant disease MONDO:0859327 developmental and epileptic encephalopathy 110 MONDO:0006025 DOID:0070395 DOID:0050737 autosomal recessive disease +MONDO:0859328 hypomagnesemia 7, renal, with or without dilated cardiomyopathy MONDO:0000426 DOID:0060972 DOID:0050736 autosomal dominant disease +MONDO:0859329 mosaic variegated aneuploidy syndrome 4 MONDO:0006025 DOID:0060981 DOID:0050737 autosomal recessive disease MONDO:0859335 congenital myopathy 15 MONDO:0000426 DOID:0081347 DOID:0050736 autosomal dominant disease MONDO:0859337 combined oxidative phosphorylation deficiency 57 MONDO:0006025 DOID:0070430 DOID:0050737 autosomal recessive disease MONDO:0859341 hypotrichosis 15 MONDO:0006025 DOID:0060968 DOID:0050737 autosomal recessive disease @@ -4367,6 +4395,7 @@ MONDO:0957265 congenital myopathy 22B, severe fetal MONDO:0006025 DOID:0081355 D MONDO:0957274 spastic paraplegia 89, autosomal recessive MONDO:0006025 DOID:0070458 DOID:0050737 autosomal recessive disease MONDO:0957281 nemaline myopathy 5B, autosomal recessive, childhood-onset MONDO:0006025 DOID:0081374 DOID:0050737 autosomal recessive disease MONDO:0957284 nemaline myopathy 5C, autosomal dominant MONDO:0000426 DOID:0081375 DOID:0050736 autosomal dominant disease +MONDO:0957303 palmoplantar keratoderma, epidermolytic, 2 MONDO:0000426 DOID:0070551 DOID:0050736 autosomal dominant disease MONDO:0957308 spastic paraplegia 90A, autosomal dominant MONDO:0000426 DOID:0070459 DOID:0050736 autosomal dominant disease MONDO:0957309 spastic paraplegia 90B, autosomal recessive MONDO:0000426 DOID:0070460 DOID:0050736 autosomal dominant disease MONDO:0957317 hematuria, benign familial MONDO:0000426 DOID:0111365 DOID:0050736 autosomal dominant disease diff --git a/src/ontology/reports/doid.subclass.confirmed.robot.tsv b/src/ontology/reports/doid.subclass.confirmed.robot.tsv index 12d3bdeb2..bfcda5ae5 100644 --- a/src/ontology/reports/doid.subclass.confirmed.robot.tsv +++ b/src/ontology/reports/doid.subclass.confirmed.robot.tsv @@ -93,7 +93,6 @@ MONDO:0000408 fetal alcohol spectrum disorder MONDO:0000592 DOID:0050696 DOID:00 MONDO:0000411 electroclinical syndrome MONDO:0005027 DOID:0050701 DOID:1826 epilepsy MONDO:0000412 neonatal period electroclinical syndrome MONDO:0000411 DOID:0050702 DOID:0050701 electroclinical syndrome MONDO:0000413 infancy electroclinical syndrome MONDO:0000411 DOID:0050703 DOID:0050701 electroclinical syndrome -MONDO:0000424 inborn vitamin B12 deficiency MONDO:0005528 DOID:0050731 DOID:0050718 inborn vitamin metabolic disorder MONDO:0000426 autosomal dominant disease MONDO:0000429 DOID:0050736 DOID:0050739 autosomal genetic disease MONDO:0000430 mature T-cell and NK-cell non-Hodgkin lymphoma MONDO:0015760 DOID:0050743 DOID:0081312 T-cell non-Hodgkin lymphoma MONDO:0000437 cerebellar ataxia MONDO:0002427 DOID:0050753 DOID:2786 cerebellar disorder @@ -2979,7 +2978,6 @@ MONDO:0004580 retinal degeneration MONDO:0005283 DOID:8466 DOID:5679 retinal dis MONDO:0004582 rheumatic myocarditis MONDO:0004496 DOID:8481 DOID:820 myocarditis MONDO:0004583 transient retinal arterial occlusion MONDO:0006948 DOID:8482 DOID:8483 retinal artery occlusion MONDO:0004584 maple bark strippers' lung MONDO:0002312 DOID:8484 DOID:2473 opportunistic mycosis -MONDO:0004587 hereditary night blindness MONDO:0004588 DOID:8498 DOID:8499 night blindness MONDO:0004588 night blindness MONDO:0005283 DOID:8499 DOID:5679 retinal disorder MONDO:0004591 impetigo herpetiformis MONDO:0004592 DOID:8503 DOID:8504 impetigo MONDO:0004592 impetigo MONDO:0002922 DOID:8504 DOID:4223 pyoderma @@ -3256,6 +3254,7 @@ MONDO:0004992 cancer MONDO:0005070 DOID:162 DOID:14566 neoplasm MONDO:0004993 carcinoma MONDO:0004992 DOID:305 DOID:0050687 cancer MONDO:0004994 cardiomyopathy MONDO:0005267 DOID:0050700 DOID:114 heart disorder MONDO:0004996 childhood acute myeloid leukemia MONDO:0004355 DOID:0070323 DOID:7757 childhood leukemia +MONDO:0004997 chondroblastoma MONDO:0000631 DOID:2649 DOID:0060094 bone benign neoplasm MONDO:0005002 chronic obstructive pulmonary disease MONDO:0002267 DOID:3083 DOID:2320 obstructive lung disease MONDO:0005004 clear cell adenocarcinoma MONDO:0004970 DOID:4468 DOID:299 adenocarcinoma MONDO:0005006 clear cell sarcoma of kidney MONDO:0002930 DOID:4880 DOID:4242 kidney sarcoma @@ -3821,6 +3820,7 @@ MONDO:0006452 thymic sarcomatoid carcinoma MONDO:0006451 DOID:8138 DOID:3284 thy MONDO:0006458 thymoma type B3 MONDO:0016974 DOID:7926 DOID:3282 thymoma type B MONDO:0006459 thymoma type B1 MONDO:0016974 DOID:6917 DOID:3282 thymoma type B MONDO:0006466 thyroid gland spindle cell tumor with thymus-like differentiation MONDO:0015075 DOID:0050923 DOID:3963 thyroid gland carcinoma +MONDO:0006466 thyroid gland spindle cell tumor with thymus-like differentiation MONDO:0015075 DOID:0081461 DOID:3963 thyroid gland carcinoma MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma MONDO:0015075 DOID:0080522 DOID:3963 thyroid gland carcinoma MONDO:0006469 tibial adamantinoma MONDO:0002422 DOID:6322 DOID:2775 adamantinoma MONDO:0006471 tracheal adenoid cystic carcinoma MONDO:0003184 DOID:4875 DOID:4876 trachea carcinoma @@ -3893,6 +3893,7 @@ MONDO:0006585 neurodermatitis MONDO:0002406 DOID:3309 DOID:2723 dermatitis MONDO:0006586 neurotic excoriation MONDO:0002406 DOID:9165 DOID:2723 dermatitis MONDO:0006589 occupational dermatitis MONDO:0005480 DOID:4404 DOID:2773 contact dermatitis MONDO:0006590 palmoplantar keratosis MONDO:0006566 DOID:3390 DOID:161 keratosis +MONDO:0006591 panniculitis MONDO:0003900 DOID:1526 DOID:65 connective tissue disorder MONDO:0006592 parapsoriasis MONDO:0005083 DOID:9088 DOID:8893 psoriasis MONDO:0006593 pelvic lipomatosis MONDO:0006574 DOID:3927 DOID:3153 lipomatosis MONDO:0006594 pemphigus MONDO:0019337 DOID:9182 DOID:8502 autoimmune bullous skin disease @@ -4330,6 +4331,7 @@ MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations MO MONDO:0007745 Gilbert syndrome MONDO:0002408 DOID:2739 DOID:2741 hereditary hyperbilirubinemia MONDO:0007747 isolated hyperchlorhidrosis MONDO:0006025 DOID:0111371 DOID:0050737 autosomal recessive disease MONDO:0007753 Frey syndrome MONDO:0001292 DOID:11599 DOID:11465 autonomic nervous system disorder +MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 MONDO:0968949 DOID:0070552 DOID:0080223 palmoplantar keratoderma, epidermolytic MONDO:0007762 hyperlipoproteinemia type V MONDO:0001336 DOID:1171 DOID:1168 familial hyperlipidemia MONDO:0007764 autosomal dominant osteosclerosis, Worth type MONDO:0002185 DOID:0080037 DOID:205 hyperostosis MONDO:0007784 selective pituitary resistance to thyroid hormone MONDO:0004425 DOID:0111374 DOID:7998 hyperthyroidism @@ -4459,6 +4461,7 @@ MONDO:0008244 piebaldism MONDO:0000426 DOID:3263 DOID:0050736 autosomal dominant MONDO:0008250 isolated growth hormone deficiency type II MONDO:0000050 DOID:0060872 DOID:0060870 isolated congenital growth hormone deficiency MONDO:0008259 familial spontaneous pneumothorax MONDO:0002076 DOID:0080218 DOID:1673 pneumothorax MONDO:0008263 polycystic kidney disease 1 MONDO:0004691 DOID:0110858 DOID:898 autosomal dominant polycystic kidney disease +MONDO:0008265 polycystic liver disease 1 MONDO:0000447 DOID:0060980 DOID:0050770 autosomal dominant polycystic liver disease MONDO:0008267 orofaciodigital syndrome V MONDO:0015375 DOID:0060375 DOID:4501 orofaciodigital syndrome MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli MONDO:0000426 DOID:0050787 DOID:0050736 autosomal dominant disease MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies MONDO:0020496 DOID:0090125 DOID:0112313 familial porencephaly @@ -4857,7 +4860,6 @@ MONDO:0009762 nystagmus, congenital, autosomal recessive MONDO:0005712 DOID:0111 MONDO:0009764 ocular motor apraxia, Cogan type MONDO:0005328 DOID:0080849 DOID:5614 eye disorder MONDO:0009770 3MC syndrome 1 MONDO:0017398 DOID:0060575 DOID:0060225 3MC syndrome MONDO:0009774 cloacal exstrophy MONDO:0017919 DOID:0080175 DOID:0080173 exstrophy-epispadias complex -MONDO:0009775 Oguchi disease-1 MONDO:0016293 DOID:0110712 DOID:0050534 congenital stationary night blindness MONDO:0009776 spermatogenic failure 1 MONDO:0004983 DOID:0070188 DOID:0111910 spermatogenic failure MONDO:0009779 autosomal recessive omodysplasia MONDO:0006025 DOID:0080844 DOID:0050737 autosomal recessive disease MONDO:0009779 autosomal recessive omodysplasia MONDO:0017136 DOID:0080844 DOID:0060288 omodysplasia @@ -4874,7 +4876,7 @@ MONDO:0009823 primary hyperoxaluria type 1 MONDO:0002474 DOID:0111670 DOID:2977 MONDO:0009824 primary hyperoxaluria type 2 MONDO:0002474 DOID:0111671 DOID:2977 primary hyperoxaluria MONDO:0009833 Shwachman-Diamond syndrome MONDO:0002254 DOID:0060479 DOID:225 syndromic disease MONDO:0009837 choroid plexus papilloma MONDO:0002363 DOID:2626 DOID:2615 papilloma -MONDO:0009852 hereditary intrinsic factor deficiency MONDO:0000424 DOID:0050734 DOID:0050731 inborn vitamin B12 deficiency +MONDO:0009852 hereditary intrinsic factor deficiency MONDO:0019220 DOID:0050734 DOID:0050731 inborn disorder of cobalamin metabolism and transport MONDO:0009856 Peters plus syndrome MONDO:0002254 DOID:0080201 DOID:225 syndromic disease MONDO:0009857 persistent Mullerian duct syndrome MONDO:0005518 DOID:0050791 DOID:3765 pseudohermaphroditism MONDO:0009867 lethal congenital glycogen storage disease of heart MONDO:0002412 DOID:0090101 DOID:2747 disorder of glycogen metabolism @@ -4952,7 +4954,7 @@ MONDO:0010134 Pendred syndrome MONDO:0006025 DOID:0060744 DOID:0050737 autosomal MONDO:0010135 thyroid dyshormonogenesis 3 MONDO:0010132 DOID:0112187 DOID:0112183 familial thyroid dyshormonogenesis MONDO:0010136 thyroid dyshormonogenesis 4 MONDO:0010132 DOID:0112188 DOID:0112183 familial thyroid dyshormonogenesis MONDO:0010137 thyroid dyshormonogenesis 5 MONDO:0010132 DOID:0112184 DOID:0112183 familial thyroid dyshormonogenesis -MONDO:0010149 transcobalamin II deficiency MONDO:0000424 DOID:0050818 DOID:0050731 inborn vitamin B12 deficiency +MONDO:0010149 transcobalamin II deficiency MONDO:0019220 DOID:0050818 DOID:0050731 inborn disorder of cobalamin metabolism and transport MONDO:0010150 head and neck squamous cell carcinoma MONDO:0002038 DOID:5520 DOID:1542 head and neck carcinoma MONDO:0010150 head and neck squamous cell carcinoma MONDO:0005096 DOID:5520 DOID:1749 squamous cell carcinoma MONDO:0010160 tyrosinemia type II MONDO:0004741 DOID:0050725 DOID:9275 tyrosinemia @@ -5492,6 +5494,7 @@ MONDO:0011716 acute hemorrhagic leukoencephalitis MONDO:0019383 DOID:10992 DOID: MONDO:0011718 primary ciliary dyskinesia 2 MONDO:0016575 DOID:0110626 DOID:9562 primary ciliary dyskinesia MONDO:0011720 spermatogenic failure 3 MONDO:0004983 DOID:0070168 DOID:0111910 spermatogenic failure MONDO:0011721 distal myopathy with anterior tibial onset MONDO:0018949 DOID:0111187 DOID:11720 distal myopathy +MONDO:0011724 encephalopathy due to GLUT1 deficiency MONDO:0000188 DOID:0070561 DOID:0070560 GLUT1 deficiency syndrome MONDO:0011728 benign essential blepharospasm MONDO:0000477 DOID:529 DOID:0050836 focal dystonia MONDO:0011735 hyper-IgM syndrome type 3 MONDO:0003947 DOID:0060023 DOID:0080544 hyper-IgM syndrome MONDO:0011748 Usher syndrome type 1G MONDO:0010168 DOID:0110834 DOID:0110826 Usher syndrome type 1 @@ -5543,7 +5546,6 @@ MONDO:0011881 keratosis palmoplantaris striata 3 MONDO:0018865 DOID:0081110 DOID MONDO:0011889 Charcot-Marie-Tooth disease type 2I MONDO:0018993 DOID:0110158 DOID:0050539 Charcot-Marie-Tooth disease type 2 MONDO:0011890 Charcot-Marie-Tooth disease type 1D MONDO:0019011 DOID:0110150 DOID:0050538 Charcot-Marie-Tooth disease type 1 MONDO:0011891 febrile seizures, familial, 8 MONDO:0000032 DOID:0111298 DOID:0111297 febrile seizures, familial -MONDO:0011893 autosomal dominant nonsyndromic hearing loss 52 MONDO:0019587 DOID:0110578 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0011894 Charcot-Marie-Tooth disease type 2E MONDO:0018993 DOID:0110165 DOID:0050539 Charcot-Marie-Tooth disease type 2 MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome MONDO:0019046 DOID:0060794 DOID:0060786 leukodystrophy MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H MONDO:0018993 DOID:0110166 DOID:0050539 Charcot-Marie-Tooth disease type 2 @@ -5713,6 +5715,7 @@ MONDO:0012419 age related macular degeneration 7 MONDO:0005150 DOID:0110019 DOID MONDO:0012420 autosomal recessive nonsyndromic hearing loss 49 MONDO:0019588 DOID:0110506 DOID:0050565 hearing loss, autosomal recessive MONDO:0012421 autosomal recessive nonsyndromic hearing loss 44 MONDO:0019588 DOID:0110501 DOID:0050565 hearing loss, autosomal recessive MONDO:0012427 Loeys-Dietz syndrome 2 MONDO:0018954 DOID:0070234 DOID:0050466 Loeys-Dietz syndrome +MONDO:0012430 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 MONDO:0009133 DOID:0070557 DOID:0050997 cerebellar ataxia, intellectual disability, and dysequilibrium MONDO:0012432 Joubert syndrome 5 MONDO:0018772 DOID:0111000 DOID:0050777 Joubert syndrome MONDO:0012435 3-methylglutaconic aciduria type 5 MONDO:0017359 DOID:0110000 DOID:0060336 3-methylglutaconic aciduria MONDO:0012436 neonatal diabetes mellitus with congenital hypothyroidism MONDO:0016391 DOID:0060638 DOID:11717 neonatal diabetes mellitus @@ -5743,7 +5746,9 @@ MONDO:0012497 congenital stationary night blindness autosomal dominant 3 MONDO:0 MONDO:0012497 congenital stationary night blindness autosomal dominant 3 MONDO:0016293 DOID:0110715 DOID:0050534 congenital stationary night blindness MONDO:0012498 congenital stationary night blindness autosomal dominant 1 MONDO:0016293 DOID:0110862 DOID:0050534 congenital stationary night blindness MONDO:0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome MONDO:0000429 DOID:0111160 DOID:0050739 autosomal genetic disease +MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 MONDO:0015999 DOID:0070547 DOID:0060280 primary pigmented nodular adrenocortical disease MONDO:0012507 retinal cone dystrophy 4 MONDO:0000455 DOID:0081023 DOID:0050795 cone dystrophy +MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 MONDO:0015999 DOID:0070546 DOID:0060280 primary pigmented nodular adrenocortical disease MONDO:0012510 combined oxidative phosphorylation defect type 2 MONDO:0000732 DOID:0111483 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0012511 preterm premature rupture of the membranes MONDO:0002263 DOID:0111144 DOID:229 female reproductive system disorder MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 MONDO:0000732 DOID:0111486 DOID:0060286 combined oxidative phosphorylation deficiency @@ -5845,6 +5850,7 @@ MONDO:0012796 retinitis pigmentosa 41 MONDO:0019200 DOID:0110376 DOID:10584 reti MONDO:0012797 otosclerosis 8 MONDO:0005349 DOID:0060926 DOID:12185 otosclerosis MONDO:0012799 hypertrophic cardiomyopathy 11 MONDO:0024573 DOID:0110317 DOID:0080326 familial hypertrophic cardiomyopathy MONDO:0012804 hypertrophic cardiomyopathy 12 MONDO:0024573 DOID:0110318 DOID:0080326 familial hypertrophic cardiomyopathy +MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 MONDO:0000188 DOID:0090045 DOID:0070560 GLUT1 deficiency syndrome MONDO:0012806 ectodermal dysplasia and immunodeficiency 2 MONDO:0010293 DOID:0081079 DOID:0081077 ectodermal dysplasia and immune deficiency MONDO:0012810 aneurysm, intracranial berry, 7 MONDO:0016483 DOID:0080970 DOID:0060228 intracranial berry aneurysm MONDO:0012811 aneurysm, intracranial berry, 8 MONDO:0016483 DOID:0080971 DOID:0060228 intracranial berry aneurysm @@ -5976,6 +5982,7 @@ MONDO:0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency M MONDO:0013178 congenital muscular dystrophy due to LMNA mutation MONDO:0019950 DOID:0110640 DOID:0050557 congenital muscular dystrophy MONDO:0013183 congenital stationary night blindness 1C MONDO:0016293 DOID:0110867 DOID:0050534 congenital stationary night blindness MONDO:0013186 Noonan syndrome 6 MONDO:0018997 DOID:0060584 DOID:3490 Noonan syndrome +MONDO:0013188 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 MONDO:0009133 DOID:0070558 DOID:0050997 cerebellar ataxia, intellectual disability, and dysequilibrium MONDO:0013189 trichotillomania MONDO:0001162 DOID:0050587 DOID:10937 impulse control disorder MONDO:0013195 hypertrophic cardiomyopathy 13 MONDO:0024573 DOID:0110319 DOID:0080326 familial hypertrophic cardiomyopathy MONDO:0013197 hypertrophic cardiomyopathy 14 MONDO:0024573 DOID:0110320 DOID:0080326 familial hypertrophic cardiomyopathy @@ -6002,7 +6009,6 @@ MONDO:0013249 autosomal recessive nonsyndromic hearing loss 84A MONDO:0019588 DO MONDO:0013250 autosomal recessive nonsyndromic hearing loss 85 MONDO:0019588 DOID:0110531 DOID:0050565 hearing loss, autosomal recessive MONDO:0013254 microcephaly, seizures, and developmental delay MONDO:0100062 DOID:0080457 DOID:0112202 developmental and epileptic encephalopathy MONDO:0013255 arthrogryposis, renal dysfunction, and cholestasis 2 MONDO:0017123 DOID:0111354 DOID:0050763 arthrogryposis-renal dysfunction-cholestasis syndrome -MONDO:0013259 Oguchi disease-2 MONDO:0016293 DOID:0110713 DOID:0050534 congenital stationary night blindness MONDO:0013263 retinitis pigmentosa 54 MONDO:0019200 DOID:0110364 DOID:10584 retinitis pigmentosa MONDO:0013266 intellectual disability, autosomal dominant 20 MONDO:0015802 DOID:0070050 DOID:0060307 autosomal dominant non-syndromic intellectual disability MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly MONDO:0016643 DOID:0081046 DOID:0081044 frontonasal dysplasia @@ -6168,6 +6174,7 @@ MONDO:0013610 retinitis pigmentosa 61 MONDO:0019200 DOID:0110373 DOID:10584 reti MONDO:0013611 retinitis pigmentosa 62 MONDO:0019200 DOID:0110380 DOID:10584 retinitis pigmentosa MONDO:0013612 geleophysic dysplasia 2 MONDO:0000127 DOID:0111726 DOID:0111724 geleophysic dysplasia MONDO:0013613 Leber congenital amaurosis 16 MONDO:0018998 DOID:0110118 DOID:14791 Leber congenital amaurosis +MONDO:0013616 pigmented nodular adrenocortical disease, primary, 3 MONDO:0015999 DOID:0070548 DOID:0060280 primary pigmented nodular adrenocortical disease MONDO:0013621 LAMB2-related infantile-onset nephrotic syndrome MONDO:0002350 DOID:0080380 DOID:2590 familial nephrotic syndrome MONDO:0013622 platelet-type bleeding disorder 9 MONDO:0000009 DOID:0111045 DOID:2218 inherited bleeding disorder, platelet-type MONDO:0013623 platelet-type bleeding disorder 11 MONDO:0000009 DOID:0111057 DOID:2218 inherited bleeding disorder, platelet-type @@ -6345,6 +6352,7 @@ MONDO:0014087 Smith-McCort dysplasia 2 MONDO:0015799 DOID:0081271 DOID:0060247 S MONDO:0014088 advanced sleep phase syndrome 2 MONDO:0015609 DOID:0110012 DOID:0050628 advanced sleep phase syndrome MONDO:0014093 retinitis pigmentosa 66 MONDO:0019200 DOID:0110393 DOID:10584 retinitis pigmentosa MONDO:0014098 CIDEC-related familial partial lipodystrophy MONDO:0020088 DOID:0070203 DOID:0050440 familial partial lipodystrophy +MONDO:0014104 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 MONDO:0009133 DOID:0070559 DOID:0050997 cerebellar ataxia, intellectual disability, and dysequilibrium MONDO:0014108 Fanconi anemia complementation group Q MONDO:0019391 DOID:0111093 DOID:13636 Fanconi anemia MONDO:0014112 cardiofaciocutaneous syndrome 2 MONDO:0015280 DOID:0111461 DOID:0060233 cardiofaciocutaneous syndrome MONDO:0014113 cardiofaciocutaneous syndrome 3 MONDO:0015280 DOID:0111462 DOID:0060233 cardiofaciocutaneous syndrome @@ -6448,6 +6456,7 @@ MONDO:0014350 Seckel syndrome 8 MONDO:0019342 DOID:0070009 DOID:0050569 Seckel s MONDO:0014351 pontocerebellar hypoplasia type 9 MONDO:0020135 DOID:0060278 DOID:0060264 pontocerebellar hypoplasia MONDO:0014352 abdominal obesity-metabolic syndrome 3 MONDO:0000816 DOID:0060612 DOID:0060611 abdominal obesity-metabolic syndrome MONDO:0014354 intellectual disability, autosomal recessive 43 MONDO:0019502 DOID:0081207 DOID:0060308 autosomal recessive non-syndromic intellectual disability +MONDO:0014359 pigmented nodular adrenocortical disease, primary, 4 MONDO:0015999 DOID:0070549 DOID:0060280 primary pigmented nodular adrenocortical disease MONDO:0014363 autosomal recessive nonsyndromic hearing loss 101 MONDO:0019588 DOID:0110462 DOID:0050565 hearing loss, autosomal recessive MONDO:0014365 spermatogenic failure 13 MONDO:0004983 DOID:0070182 DOID:0111910 spermatogenic failure MONDO:0014366 spermatogenic failure 14 MONDO:0004983 DOID:0070179 DOID:0111910 spermatogenic failure @@ -6656,6 +6665,7 @@ MONDO:0014854 autosomal dominant nonsyndromic hearing loss 66 MONDO:0019587 DOID MONDO:0014856 combined oxidative phosphorylation defect type 30 MONDO:0000732 DOID:0111471 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0014858 intellectual disability, autosomal dominant 43 MONDO:0015802 DOID:0070073 DOID:0060307 autosomal dominant non-syndromic intellectual disability MONDO:0014859 developmental and epileptic encephalopathy, 37 MONDO:0100062 DOID:0080435 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0014860 polycystic liver disease 2 MONDO:0000447 DOID:0060975 DOID:0050770 autosomal dominant polycystic liver disease MONDO:0014862 cerebral palsy, spastic quadriplegic, 3 MONDO:0016215 DOID:0081361 DOID:10970 spastic quadriplegic cerebral palsy MONDO:0014864 hypermanganesemia with dystonia 2 MONDO:0000214 DOID:0080537 DOID:0080535 hypermanganesemia with dystonia MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T MONDO:0018993 DOID:0110160 DOID:0050539 Charcot-Marie-Tooth disease type 2 @@ -6838,7 +6848,7 @@ MONDO:0016243 hemoglobin E disease MONDO:0019050 DOID:5379 DOID:2860 inherited h MONDO:0016244 atypical hemolytic-uremic syndrome MONDO:0003832 DOID:0080301 DOID:626 complement deficiency MONDO:0016262 leiomyosarcoma of the corpus uteri MONDO:0005210 DOID:5289 DOID:5165 uterine corpus sarcoma MONDO:0016264 autoimmune hepatitis MONDO:0000588 DOID:2048 DOID:0060031 autoimmune disorder of gastrointestinal tract -MONDO:0016293 congenital stationary night blindness MONDO:0004587 DOID:0050534 DOID:8498 hereditary night blindness +MONDO:0016293 congenital stationary night blindness MONDO:0004588 DOID:8498 DOID:8499 night blindness MONDO:0016295 neuronal ceroid lipofuscinosis MONDO:0019245 DOID:14503 DOID:9455 lysosomal lipid storage disorder MONDO:0016296 holoprosencephaly MONDO:0002254 DOID:4621 DOID:225 syndromic disease MONDO:0016296 holoprosencephaly MONDO:0002320 DOID:4621 DOID:2490 congenital nervous system disorder @@ -7097,6 +7107,7 @@ MONDO:0019193 acquired generalized lipodystrophy MONDO:0027766 DOID:0080300 DOID MONDO:0019198 sympathetic ophthalmia MONDO:0017255 DOID:12029 DOID:12030 panuveitis MONDO:0019203 acute interstitial pneumonia MONDO:0002429 DOID:2800 DOID:2797 idiopathic interstitial pneumonia MONDO:0019214 inborn carbohydrate metabolic disorder MONDO:0019052 DOID:2978 DOID:655 inborn errors of metabolism +MONDO:0019220 inborn disorder of cobalamin metabolism and transport MONDO:0005528 DOID:0050731 DOID:0050718 inborn vitamin metabolic disorder MONDO:0019228 inborn disorder of histidine metabolism MONDO:0004736 DOID:9265 DOID:9252 inborn disorder of amino acid metabolism MONDO:0019234 peroxisome biogenesis disorder MONDO:0019053 DOID:0080377 DOID:906 peroxisomal disease MONDO:0019245 lysosomal lipid storage disorder MONDO:0002561 DOID:9455 DOID:3211 lysosomal storage disease @@ -7162,8 +7173,11 @@ MONDO:0019569 Cockayne syndrome type 1 MONDO:0016006 DOID:0080907 DOID:2962 Cock MONDO:0019570 Cockayne syndrome type 2 MONDO:0016006 DOID:0080908 DOID:2962 Cockayne syndrome MONDO:0019571 autosomal dominant cutis laxa MONDO:0000426 DOID:0070142 DOID:0050736 autosomal dominant disease MONDO:0019572 autosomal recessive cutis laxa type 1 MONDO:0006025 DOID:0070144 DOID:0050737 autosomal recessive disease +MONDO:0019586 X-linked nonsyndromic hearing loss MONDO:0019497 DOID:0050566 DOID:0050563 nonsyndromic genetic hearing loss MONDO:0019587 autosomal dominant nonsyndromic hearing loss MONDO:0000426 DOID:0050564 DOID:0050736 autosomal dominant disease +MONDO:0019587 autosomal dominant nonsyndromic hearing loss MONDO:0019497 DOID:0050564 DOID:0050563 nonsyndromic genetic hearing loss MONDO:0019588 hearing loss, autosomal recessive MONDO:0006025 DOID:0050565 DOID:0050737 autosomal recessive disease +MONDO:0019588 hearing loss, autosomal recessive MONDO:0019497 DOID:0050565 DOID:0050563 nonsyndromic genetic hearing loss MONDO:0019609 Zellweger spectrum disorders MONDO:0019234 DOID:905 DOID:0080377 peroxisome biogenesis disorder MONDO:0019613 non-functioning pituitary adenoma MONDO:0006373 DOID:5715 DOID:3829 pituitary gland adenoma MONDO:0019622 non-specific interstitial pneumonia MONDO:0002429 DOID:2801 DOID:2797 idiopathic interstitial pneumonia @@ -7241,6 +7255,7 @@ MONDO:0020563 dedifferentiated liposarcoma MONDO:0005060 DOID:0080531 DOID:3382 MONDO:0020572 complex regional pain syndrome type 2 MONDO:0019369 DOID:3222 DOID:3223 complex regional pain syndrome MONDO:0020604 X-linked dominant disease MONDO:0000425 DOID:0080009 DOID:0050735 X-linked disease MONDO:0020605 X-linked recessive disease MONDO:0000425 DOID:0080012 DOID:0050735 X-linked disease +MONDO:0020655 juvenile ankylosing spondylitis MONDO:0005306 DOID:0040092 DOID:7147 ankylosing spondylitis MONDO:0020658 infiltrating ureter transitional cell carcinoma MONDO:0004030 DOID:6845 DOID:6888 ureter transitional cell carcinoma MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis MONDO:0008803 DOID:0081290 DOID:0081289 Antley-Bixler syndrome MONDO:0020712 46,XY sex reversal 1 MONDO:0010765 DOID:0111778 DOID:14448 46,XY complete gonadal dysgenesis @@ -7322,6 +7337,7 @@ MONDO:0024523 aortic valve disease 1 MONDO:0007194 DOID:0080333 DOID:0080332 fam MONDO:0024536 glucocorticoid deficiency 1 MONDO:0008733 DOID:0080621 DOID:0080620 familial glucocorticoid deficiency MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 MONDO:0008891 DOID:0080785 DOID:0050694 riboflavin transporter deficiency MONDO:0024541 trichohepatoenteric syndrome 1 MONDO:0009105 DOID:0111415 DOID:0111414 trichohepatoenteric syndrome +MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 MONDO:0009133 DOID:0070556 DOID:0050997 cerebellar ataxia, intellectual disability, and dysequilibrium MONDO:0024545 Miyoshi muscular dystrophy 1 MONDO:0009685 DOID:0070199 DOID:0070198 Miyoshi myopathy MONDO:0024550 frontometaphyseal dysplasia 1 MONDO:0015942 DOID:0111786 DOID:0111785 frontometaphyseal dysplasia MONDO:0024552 linear skin defects with multiple congenital anomalies 1 MONDO:0010672 DOID:0111808 DOID:0111875 linear skin defects with multiple congenital anomalies @@ -7585,6 +7601,7 @@ MONDO:0032794 leber congenital amaurosis 19 MONDO:0018998 DOID:0081169 DOID:1479 MONDO:0032796 hyper-IgE recurrent infection syndrome 4, autosomal recessive MONDO:0018037 DOID:0080596 DOID:0080545 hyper-IgE syndrome MONDO:0032797 myopathy, congenital, with tremor MONDO:0019952 DOID:0081348 DOID:0081337 congenital myopathy MONDO:0032799 mitochondrial DNA depletion syndrome 16 (hepatic type) MONDO:0018158 DOID:0070446 DOID:0070329 mitochondrial DNA depletion syndrome +MONDO:0032800 robinow syndrome, autosomal recessive 2 MONDO:0019978 DOID:0060974 DOID:0060254 Robinow syndrome MONDO:0032801 erythrokeratodermia variabilis et progressiva 6 MONDO:0017851 DOID:0080766 DOID:0050467 erythrokeratodermia variabilis MONDO:0032804 ectodermal dysplasia 15, hypohidrotic/hair type MONDO:0019287 DOID:0111651 DOID:2121 ectodermal dysplasia syndrome MONDO:0032808 developmental and epileptic encephalopathy, 77 MONDO:0100247 DOID:0112213 DOID:0080503 multiple congenital anomalies-hypotonia-seizures syndrome @@ -7737,6 +7754,8 @@ MONDO:0044308 bardet-biedl syndrome 21 MONDO:0015229 DOID:0081010 DOID:1935 Bard MONDO:0044309 Diamond-Blackfan anemia 16 MONDO:0015253 DOID:0111893 DOID:1339 Diamond-Blackfan anemia MONDO:0044310 Diamond-Blackfan anemia 17 MONDO:0015253 DOID:0111880 DOID:1339 Diamond-Blackfan anemia MONDO:0044313 intellectual disability, autosomal recessive 60 MONDO:0019502 DOID:0081222 DOID:0060308 autosomal recessive non-syndromic intellectual disability +MONDO:0044325 Fanconi anemia, complementation group W MONDO:0019391 DOID:0060978 DOID:13636 Fanconi anemia +MONDO:0044327 polycystic liver disease 4 with or without kidney cysts MONDO:0000447 DOID:0060977 DOID:0050770 autosomal dominant polycystic liver disease MONDO:0044330 hyperekplexia 4 MONDO:0021022 DOID:0080581 DOID:0060695 hereditary hyperekplexia MONDO:0044634 retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome MONDO:0002254 DOID:0081175 DOID:225 syndromic disease MONDO:0044723 3-methylglutaconic aciduria type 8 MONDO:0017359 DOID:0070000 DOID:0060336 3-methylglutaconic aciduria @@ -7779,6 +7798,8 @@ MONDO:0054739 Fraser syndrome 3 MONDO:0009046 DOID:0111406 DOID:0090001 Fraser s MONDO:0054740 blepharocheilodontic syndrome 1 MONDO:0007339 DOID:0080345 DOID:0080344 blepharocheilodontic syndrome MONDO:0054741 combined oxidative phosphorylation deficiency 34 MONDO:0000732 DOID:0111497 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0054742 combined oxidative phosphorylation deficiency 35 MONDO:0000732 DOID:0111464 DOID:0060286 combined oxidative phosphorylation deficiency +MONDO:0054743 polycystic liver disease 3 with or without kidney cysts MONDO:0000447 DOID:0060976 DOID:0050770 autosomal dominant polycystic liver disease +MONDO:0054748 Fanconi anemia, complementation group S MONDO:0019391 DOID:0060979 DOID:13636 Fanconi anemia MONDO:0054752 multiple synostoses syndrome 4 MONDO:0017923 DOID:0081320 DOID:0050794 multiple synostoses syndrome MONDO:0054770 orofaciodigital syndrome 18 MONDO:0015375 DOID:0060961 DOID:4501 orofaciodigital syndrome MONDO:0054776 epilepsy, familial focal, with variable foci 4 MONDO:0020310 DOID:0081424 DOID:0081420 familial focal epilepsy with variable foci @@ -7871,7 +7892,6 @@ MONDO:0700251 orofacial cleft 7 MONDO:0000358 DOID:0080400 DOID:0050567 orofacia MONDO:0800025 Teebi hypertelorism syndrome 1 MONDO:0030639 DOID:0080698 DOID:0081073 Teebi hypertelorism syndrome MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease MONDO:0001292 DOID:0060731 DOID:11465 autonomic nervous system disorder MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 MONDO:0019046 DOID:0080523 DOID:10579 leukodystrophy -MONDO:0800029 interstitial lung disease 2 MONDO:0002771 DOID:0050156 DOID:3770 pulmonary fibrosis MONDO:0800042 restrictive dermopathy 1 MONDO:0031213 DOID:0070369 DOID:0060762 restrictive dermopathy MONDO:0800044 congenital disorder of deglycosylation 1 MONDO:0019214 DOID:0060728 DOID:2978 inborn carbohydrate metabolic disorder MONDO:0800366 dyskeratosis congenita, autosomal dominant 4 MONDO:0015780 DOID:0070020 DOID:2729 dyskeratosis congenita @@ -8020,9 +8040,12 @@ MONDO:0859314 developmental and epileptic encephalopathy 108 MONDO:0100062 DOID: MONDO:0859323 combined oxidative phosphorylation deficiency 56 MONDO:0000732 DOID:0070429 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0859325 developmental and epileptic encephalopathy 109 MONDO:0100062 DOID:0070378 DOID:0112202 developmental and epileptic encephalopathy MONDO:0859327 developmental and epileptic encephalopathy 110 MONDO:0100062 DOID:0070395 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0859328 hypomagnesemia 7, renal, with or without dilated cardiomyopathy MONDO:0018100 DOID:0060972 DOID:0060879 familial primary hypomagnesemia +MONDO:0859329 mosaic variegated aneuploidy syndrome 4 MONDO:0000141 DOID:0060981 DOID:0080688 mosaic variegated aneuploidy syndrome MONDO:0859335 congenital myopathy 15 MONDO:0019952 DOID:0081347 DOID:0081337 congenital myopathy MONDO:0859337 combined oxidative phosphorylation deficiency 57 MONDO:0000732 DOID:0070430 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0859341 hypotrichosis 15 MONDO:0003037 DOID:0060968 DOID:4535 hypotrichosis +MONDO:0859346 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition MONDO:0000141 DOID:0060982 DOID:0080688 mosaic variegated aneuploidy syndrome MONDO:0859360 spinocerebellar ataxia, autosomal recessive 33 MONDO:0015244 DOID:0070414 DOID:0050950 autosomal recessive cerebellar ataxia MONDO:0859362 hyperinsulinemic hypoglycemia, familial, 8 MONDO:0005803 DOID:0081328 DOID:13317 hyperinsulinemic hypoglycemia MONDO:0859363 spastic paraplegia 79A, autosomal dominant, with ataxia MONDO:0019064 DOID:0070455 DOID:2476 hereditary spastic paraplegia @@ -8086,6 +8109,7 @@ MONDO:0957265 congenital myopathy 22B, severe fetal MONDO:0019952 DOID:0081355 D MONDO:0957274 spastic paraplegia 89, autosomal recessive MONDO:0019064 DOID:0070458 DOID:2476 hereditary spastic paraplegia MONDO:0957281 nemaline myopathy 5B, autosomal recessive, childhood-onset MONDO:0018958 DOID:0081374 DOID:3191 nemaline myopathy MONDO:0957284 nemaline myopathy 5C, autosomal dominant MONDO:0018958 DOID:0081375 DOID:3191 nemaline myopathy +MONDO:0957303 palmoplantar keratoderma, epidermolytic, 2 MONDO:0968949 DOID:0070551 DOID:0080223 palmoplantar keratoderma, epidermolytic MONDO:0957308 spastic paraplegia 90A, autosomal dominant MONDO:0019064 DOID:0070459 DOID:2476 hereditary spastic paraplegia MONDO:0957309 spastic paraplegia 90B, autosomal recessive MONDO:0019064 DOID:0070460 DOID:2476 hereditary spastic paraplegia MONDO:0957519 diffuse gastric cancer MONDO:0001056 DOID:0080763 DOID:10534 gastric cancer diff --git a/src/ontology/reports/doid_excluded_terms_in_mondo_xrefs.tsv b/src/ontology/reports/doid_excluded_terms_in_mondo_xrefs.tsv index 08ae5f751..0a42a0e73 100644 --- a/src/ontology/reports/doid_excluded_terms_in_mondo_xrefs.tsv +++ b/src/ontology/reports/doid_excluded_terms_in_mondo_xrefs.tsv @@ -2,9 +2,12 @@ term_id term_label 1_in_mirror_tsv 2_in_component_tsv 3_in_mondo_xrefs in1_notIn DOID:6809 obsolete vaginal tubular adenoma True False True True DOID:10919 obsolete transsexualism True False True True DOID:0050068 obsolete pestis minor True False True True +DOID:0060015 obsolete interleukin-7 receptor alpha deficiency True False True True +DOID:0081164 obsolete dilated cardiomyopathy 3B True False True True DOID:1634 obsolete breast papillomatosis True False True True DOID:5209 obsolete benign struma ovarii True False True True DOID:955 obsolete benign neurilemmoma True False True True DOID:7922 obsolete benign mediastinal neurilemmoma True False True True +DOID:0110578 obsolete autosomal dominant nonsyndromic deafness 52 True False True True DOID:0110302 obsolete autosomal dominant limb-girdle muscular dystrophy type 1C True False True True DOID:0050867 obsolete Jensen syndrome True False True True diff --git a/src/ontology/reports/doid_excluded_terms_in_mondo_xrefs_summary.tsv b/src/ontology/reports/doid_excluded_terms_in_mondo_xrefs_summary.tsv index 232caa180..996581f1f 100644 --- a/src/ontology/reports/doid_excluded_terms_in_mondo_xrefs_summary.tsv +++ b/src/ontology/reports/doid_excluded_terms_in_mondo_xrefs_summary.tsv @@ -1,2 +1,2 @@ n_in1_notIn2_in3 pct_in1_notIn2_in3__over_in1 -9 0.0006 +12 0.0008 diff --git a/src/ontology/reports/doid_exclusion_reasons.robot.template.tsv b/src/ontology/reports/doid_exclusion_reasons.robot.template.tsv index 2119f93a1..539c7e9f4 100644 --- a/src/ontology/reports/doid_exclusion_reasons.robot.template.tsv +++ b/src/ontology/reports/doid_exclusion_reasons.robot.template.tsv @@ -471,6 +471,7 @@ DOID:0050875 MONDO:excludeNonDisease DOID:0050878 MONDO:excludeNonDisease DOID:0050966 MONDO:excludeNonDisease DOID:0060006 MONDO:excludeNonDisease +DOID:0060015 MONDO:excludeNonDisease DOID:0060035 MONDO:excludeNonDisease DOID:0060052 MONDO:excludeNonDisease DOID:0060053 MONDO:excludeNonDisease @@ -485,6 +486,7 @@ DOID:0060600 MONDO:excludeNonDisease DOID:0060605 MONDO:excludeNonDisease DOID:0060771 MONDO:excludeNonDisease DOID:0060829 MONDO:excludeNonDisease +DOID:0060963 MONDO:excludeNonDisease DOID:0070001 MONDO:excludeNonDisease DOID:0070075 MONDO:excludeNonDisease DOID:0070076 MONDO:excludeNonDisease @@ -523,6 +525,7 @@ DOID:0080469 MONDO:excludeNonDisease DOID:0080713 MONDO:excludeNonDisease DOID:0080783 MONDO:excludeNonDisease DOID:0081062 MONDO:excludeNonDisease +DOID:0081164 MONDO:excludeNonDisease DOID:0081376 MONDO:excludeNonDisease DOID:0090121 MONDO:excludeNonDisease DOID:0110071 MONDO:excludeNonDisease @@ -533,6 +536,7 @@ DOID:0110301 MONDO:excludeNonDisease DOID:0110302 MONDO:excludeNonDisease DOID:0110325 MONDO:excludeNonDisease DOID:0110466 MONDO:excludeNonDisease +DOID:0110578 MONDO:excludeNonDisease DOID:0110631 MONDO:excludeNonDisease DOID:0110638 MONDO:excludeNonDisease DOID:0110748 MONDO:excludeNonDisease diff --git a/src/ontology/reports/doid_mapped_deprecated_terms.robot.template.tsv b/src/ontology/reports/doid_mapped_deprecated_terms.robot.template.tsv index a75b06820..ae6016668 100644 --- a/src/ontology/reports/doid_mapped_deprecated_terms.robot.template.tsv +++ b/src/ontology/reports/doid_mapped_deprecated_terms.robot.template.tsv @@ -1,2 +1,5 @@ mondo_id source_id source ID A oboInOwl:hasDbXref >A oboInOwl:source +MONDO:0010542 DOID:0081164 MONDO:equivalentObsolete +MONDO:0011893 DOID:0110578 MONDO:equivalentObsolete +MONDO:0015701 DOID:0060015 MONDO:equivalentObsolete diff --git a/src/ontology/reports/doid_mapping_status.tsv b/src/ontology/reports/doid_mapping_status.tsv index 5d0b6c6fa..a20b7aa84 100644 --- a/src/ontology/reports/doid_mapping_status.tsv +++ b/src/ontology/reports/doid_mapping_status.tsv @@ -1,45 +1,50 @@ subject_id subject_label is_mapped is_excluded is_deprecated +DOID:0050156 idiopathic pulmonary fibrosis False False False DOID:0060160 childhood spinal muscular atrophy False False False DOID:0060333 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 False False False DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 False False False -DOID:0060971 interstitial lung disease 2 False False False -DOID:0060972 renal hypomagnesemia 7, with or without dilated cardiomyopathy False False False -DOID:0060973 WHIM syndrome 2 False False False -DOID:0060974 autosomal recessive Robinow syndrome 2 False False False -DOID:0060975 polycystic liver disease 2 False False False -DOID:0060976 polycystic liver disease 3 with or without kidney cysts False False False -DOID:0060977 polycystic liver disease 4 with or without kidney cysts False False False -DOID:0060978 Fanconi anemia complementation group W False False False -DOID:0060979 Fanconi anemia complementation group S False False False -DOID:0060980 polycystic liver disease 1 False False False -DOID:0060981 mosaic variegated aneuploidy syndrome 4 False False False -DOID:0060982 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition False False False -DOID:0060983 sitosterolemia 2 False False False -DOID:0070546 primary pigmented nodular adrenocortical disease 1 False False False -DOID:0070547 primary pigmented nodular adrenocortical disease 2 False False False -DOID:0070548 primary pigmented nodular adrenocortical disease 3 False False False -DOID:0070549 primary pigmented nodular adrenocortical disease 4 False False False -DOID:0070550 KRT1-related nonepidermolytic palmoplantar keratoderma False False False -DOID:0070551 epidermolytic palmoplantar keratoderma 2 False False False -DOID:0070552 epidermolytic palmoplantar keratoderma 1 False False False -DOID:0070553 focal palmoplantar and gingival keratosis False False False -DOID:0070554 palmoplantar keratoderma and woolly hair False False False -DOID:0070555 Nagashima-type palmoplantar keratosis False False False -DOID:0070556 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 False False False -DOID:0070557 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 False False False -DOID:0070558 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 False False False -DOID:0070559 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 False False False -DOID:0070560 glucose transporter type 1 deficiency syndrome False False False -DOID:0070561 glucose transporter type 1 deficiency syndrome 1 False False False -DOID:0070562 Fanconi-Bickel syndrome False False False -DOID:0070563 glucose-galactose malabsorption False False False +DOID:0070564 dialysis disequilibrium syndrome False False False +DOID:0070565 spermatogenic failure 66 False False False +DOID:0070566 spermatogenic failure 67 False False False +DOID:0070567 spermatogenic failure 68 False False False +DOID:0070568 spermatogenic failure 69 False False False +DOID:0070569 spermatogenic failure 70 False False False +DOID:0070570 spermatogenic failure 71 False False False +DOID:0070571 spermatogenic failure 72 False False False +DOID:0070572 spermatogenic failure 73 False False False +DOID:0070573 spermatogenic failure 74 False False False +DOID:0070574 spermatogenic failure 75 False False False +DOID:0070575 spermatogenic failure 76 False False False +DOID:0070576 spermatogenic failure 77 False False False +DOID:0070577 spermatogenic failure 78 False False False +DOID:0070578 spermatogenic failure 79 False False False +DOID:0070579 spermatogenic failure 80 False False False +DOID:0070580 spermatogenic failure 81 False False False +DOID:0070581 spermatogenic failure 82 False False False +DOID:0070582 spermatogenic failure 83 False False False +DOID:0070583 spermatogenic failure 84 False False False +DOID:0070584 spermatogenic failure 85 False False False +DOID:0070585 spermatogenic failure 86 False False False +DOID:0070586 spermatogenic failure 87 False False False +DOID:0070587 spermatogenic failure 88 False False False +DOID:0070588 spermatogenic failure 89 False False False +DOID:0070589 spermatogenic failure 90 False False False +DOID:0070590 spermatogenic failure 91 False False False +DOID:0070591 spermatogenic failure 92 False False False +DOID:0070592 spermatogenic failure 93 False False False +DOID:0070593 spermatogenic failure 94 False False False +DOID:0070594 spermatogenic failure 95 False False False +DOID:0070595 X-linked spermatogenic failure 4 False False False +DOID:0070596 X-linked spermatogenic failure 5 False False False +DOID:0070597 X-linked spermatogenic failure 6 False False False +DOID:0070598 X-linked spermatogenic failure 7 False False False +DOID:0070599 X-linked spermatogenic failure 8 False False False DOID:0081455 auto-brewery syndrome False False False DOID:0081456 bladder fermentation syndrome False False False DOID:0081457 intrathyroid thymic carcinoma False False False DOID:0081458 thyroid gland cribriform morular carcinoma False False False DOID:0081459 thyroid gland mixed medullary and follicular cell-derived carcinoma False False False DOID:0081460 thyroid gland mucinous carcinoma False False False -DOID:0081461 thyroid gland spindle epithelial tumor with thymus-like elements False False False DOID:0111368 cholesterol-ester transfer protein deficiency False False False DOID:146 papilledema False False False DOID:2536 chronic inflammatory demyelinating polyneuritis False False False @@ -476,6 +481,7 @@ DOID:0060600 obsolete hereditary motor and sensory neuropathy with agenesis of t DOID:0060605 obsolete anterior segment mesenchymal dysgenesis False True True DOID:0060771 obsolete dextro-looped transposition of the great arteries 1 False True True DOID:0060829 obsolete Brooks-Wisniewski-Brown syndrome False True True +DOID:0060963 obsolete dystonia, DOPA-responsive False True True DOID:0070001 obsolete neoplastic disease False True True DOID:0070075 obsolete Kleefstra Syndrome False True True DOID:0070076 obsolete Koolen-De Vries syndrome False True True @@ -2700,7 +2706,6 @@ DOID:0050150 Pontiac fever True False False DOID:0050152 aspiration pneumonia True False False DOID:0050153 pulmonary aspergilloma True False False DOID:0050155 sensory system disease True False False -DOID:0050156 idiopathic pulmonary fibrosis True False False DOID:0050157 cryptogenic organizing pneumonia True False False DOID:0050158 desquamative interstitial pneumonia True False False DOID:0050159 lymphoid interstitial pneumonia True False False @@ -3288,7 +3293,6 @@ DOID:0060011 recombinase activating gene 1 deficiency True False False DOID:0060012 recombinase activating gene 2 deficiency True False False DOID:0060013 X-linked severe combined immunodeficiency True False False DOID:0060014 CD45 deficiency True False False -DOID:0060015 interleukin-7 receptor alpha deficiency True False False DOID:0060016 CD3delta deficiency True False False DOID:0060017 CD3epsilon deficiency True False False DOID:0060018 CD3gamma deficiency True False False @@ -4099,7 +4103,6 @@ DOID:0060959 orofaciodigital syndrome II True False False DOID:0060960 orofaciodigital syndrome XIX True False False DOID:0060961 orofaciodigital syndrome XVIII True False False DOID:0060962 orofaciodigital syndrome XX True False False -DOID:0060963 dystonia, DOPA-responsive True False False DOID:0060964 Loeys-Dietz syndrome 6 True False False DOID:0060965 episodic ataxia type 9 True False False DOID:0060966 dystonia 22, juvenile-onset True False False @@ -4107,6 +4110,19 @@ DOID:0060967 dystonia 22, adult-onset True False False DOID:0060968 hypotrichosis 15 True False False DOID:0060969 galactosemia 4 True False False DOID:0060970 Cornelia de Lange syndrome 6 True False False +DOID:0060971 interstitial lung disease 2 True False False +DOID:0060972 renal hypomagnesemia 7, with or without dilated cardiomyopathy True False False +DOID:0060973 WHIM syndrome 2 True False False +DOID:0060974 autosomal recessive Robinow syndrome 2 True False False +DOID:0060975 polycystic liver disease 2 True False False +DOID:0060976 polycystic liver disease 3 True False False +DOID:0060977 polycystic liver disease 4 True False False +DOID:0060978 Fanconi anemia complementation group W True False False +DOID:0060979 Fanconi anemia complementation group S True False False +DOID:0060980 polycystic liver disease 1 True False False +DOID:0060981 mosaic variegated aneuploidy syndrome 4 True False False +DOID:0060982 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition True False False +DOID:0060983 sitosterolemia 2 True False False DOID:0070000 3-methylglutaconic aciduria type 8 True False False DOID:0070002 3-methylglutaconic aciduria type 9 True False False DOID:0070003 blastoma True False False @@ -4635,6 +4651,24 @@ DOID:0070542 neurodevelopmental disorder with spastic paraplegia and microcephal DOID:0070543 neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities True False False DOID:0070544 congenital glutamine deficiency True False False DOID:0070545 developmental and epileptic encephalopathy 116 True False False +DOID:0070546 primary pigmented nodular adrenocortical disease 1 True False False +DOID:0070547 primary pigmented nodular adrenocortical disease 2 True False False +DOID:0070548 primary pigmented nodular adrenocortical disease 3 True False False +DOID:0070549 primary pigmented nodular adrenocortical disease 4 True False False +DOID:0070550 KRT1-related nonepidermolytic palmoplantar keratoderma True False False +DOID:0070551 epidermolytic palmoplantar keratoderma 2 True False False +DOID:0070552 epidermolytic palmoplantar keratoderma 1 True False False +DOID:0070553 focal palmoplantar and gingival keratosis True False False +DOID:0070554 palmoplantar keratoderma and woolly hair True False False +DOID:0070555 Nagashima-type palmoplantar keratosis True False False +DOID:0070556 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 True False False +DOID:0070557 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 True False False +DOID:0070558 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 True False False +DOID:0070559 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 True False False +DOID:0070560 glucose transporter type 1 deficiency syndrome True False False +DOID:0070561 glucose transporter type 1 deficiency syndrome 1 True False False +DOID:0070562 Fanconi-Bickel syndrome True False False +DOID:0070563 glucose-galactose malabsorption True False False DOID:0080000 muscular disease True False False DOID:0080001 bone disease True False False DOID:0080005 bone remodeling disease True False False @@ -5722,7 +5756,6 @@ DOID:0081160 dilated cardiomyopathy 2D True False False DOID:0081161 dilated cardiomyopathy 2E True False False DOID:0081162 dilated cardiomyopathy 2F True False False DOID:0081163 dilated cardiomyopathy 2G True False False -DOID:0081164 dilated cardiomyopathy 3B True False False DOID:0081168 HMG-CoA synthase 2 deficiency True False False DOID:0081169 Leber congenital amaurosis 19 True False False DOID:0081175 short stature, hearing loss, retinitis pigmentosa, and distinctive facies True False False @@ -6002,6 +6035,7 @@ DOID:0081451 PFAPA syndrome True False False DOID:0081452 large B-cell lymphoma True False False DOID:0081453 Dent disease 1 True False False DOID:0081454 Dent disease 2 True False False +DOID:0081461 thyroid gland spindle epithelial tumor with thymus-like elements True False False DOID:0090001 Fraser syndrome True False False DOID:0090002 Tietz syndrome True False False DOID:0090003 agenesis of the corpus callosum with peripheral neuropathy True False False @@ -6044,7 +6078,7 @@ DOID:0090039 torsion dystonia 6 True False False DOID:0090040 torsion dystonia 7 True False False DOID:0090041 torsion dystonia 4 True False False DOID:0090042 torsion dystonia 17 True False False -DOID:0090043 dystonia 5 True False False +DOID:0090043 dopa-responsive dystonia True False False DOID:0090044 dystonia 9 True False False DOID:0090045 glucose transporter type 1 deficiency syndrome 2 True False False DOID:0090046 dystonia 21 True False False @@ -6703,7 +6737,6 @@ DOID:0110574 autosomal dominant nonsyndromic deafness 4B True False False DOID:0110575 autosomal dominant nonsyndromic deafness 5 True False False DOID:0110576 autosomal dominant nonsyndromic deafness 50 True False False DOID:0110577 autosomal dominant nonsyndromic deafness 51 True False False -DOID:0110578 autosomal dominant nonsyndromic deafness 52 True False False DOID:0110579 autosomal dominant nonsyndromic deafness 53 True False False DOID:0110580 autosomal dominant nonsyndromic deafness 54 True False False DOID:0110581 autosomal dominant nonsyndromic deafness 56 True False False @@ -14088,7 +14121,10 @@ DOID:4481 allergic rhinitis True True False DOID:9415 allergic asthma True True False DOID:0050068 obsolete pestis minor True True True DOID:0050867 obsolete Jensen syndrome True True True +DOID:0060015 obsolete interleukin-7 receptor alpha deficiency True True True +DOID:0081164 obsolete dilated cardiomyopathy 3B True True True DOID:0110302 obsolete autosomal dominant limb-girdle muscular dystrophy type 1C True True True +DOID:0110578 obsolete autosomal dominant nonsyndromic deafness 52 True True True DOID:10919 obsolete transsexualism True True True DOID:1634 obsolete breast papillomatosis True True True DOID:5209 obsolete benign struma ovarii True True True diff --git a/src/ontology/reports/doid_term_exclusions.txt b/src/ontology/reports/doid_term_exclusions.txt index c028d07d6..950153ad0 100644 --- a/src/ontology/reports/doid_term_exclusions.txt +++ b/src/ontology/reports/doid_term_exclusions.txt @@ -389,6 +389,7 @@ DOID:0050875 DOID:0050878 DOID:0050966 DOID:0060006 +DOID:0060015 DOID:0060035 DOID:0060052 DOID:0060053 @@ -442,6 +443,7 @@ DOID:0060605 DOID:0060771 DOID:0060829 DOID:0060904 +DOID:0060963 DOID:0070001 DOID:0070075 DOID:0070076 @@ -499,6 +501,7 @@ DOID:0081006 DOID:0081062 DOID:0081083 DOID:0081084 +DOID:0081164 DOID:0081286 DOID:0081376 DOID:0090121 @@ -518,6 +521,7 @@ DOID:0110301 DOID:0110302 DOID:0110325 DOID:0110466 +DOID:0110578 DOID:0110631 DOID:0110638 DOID:0110748 diff --git a/src/ontology/reports/doid_unmapped_terms.tsv b/src/ontology/reports/doid_unmapped_terms.tsv index 08676036e..d801c5163 100644 --- a/src/ontology/reports/doid_unmapped_terms.tsv +++ b/src/ontology/reports/doid_unmapped_terms.tsv @@ -1,49 +1,54 @@ subject_id subject_label -DOID:0060979 Fanconi anemia complementation group S -DOID:0060978 Fanconi anemia complementation group W -DOID:0070562 Fanconi-Bickel syndrome -DOID:0070550 KRT1-related nonepidermolytic palmoplantar keratoderma -DOID:0070555 Nagashima-type palmoplantar keratosis -DOID:0060973 WHIM syndrome 2 +DOID:0070595 X-linked spermatogenic failure 4 +DOID:0070596 X-linked spermatogenic failure 5 +DOID:0070597 X-linked spermatogenic failure 6 +DOID:0070598 X-linked spermatogenic failure 7 +DOID:0070599 X-linked spermatogenic failure 8 DOID:2934 aleutian mink disease DOID:0081455 auto-brewery syndrome -DOID:0060974 autosomal recessive Robinow syndrome 2 DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 DOID:0081456 bladder fermentation syndrome DOID:5154 borna disease -DOID:0070556 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 -DOID:0070557 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 -DOID:0070558 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 -DOID:0070559 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 DOID:0060160 childhood spinal muscular atrophy DOID:0111368 cholesterol-ester transfer protein deficiency DOID:2536 chronic inflammatory demyelinating polyneuritis DOID:4668 congenital kyphosis -DOID:0070552 epidermolytic palmoplantar keratoderma 1 -DOID:0070551 epidermolytic palmoplantar keratoderma 2 -DOID:0070553 focal palmoplantar and gingival keratosis -DOID:0070560 glucose transporter type 1 deficiency syndrome -DOID:0070561 glucose transporter type 1 deficiency syndrome 1 -DOID:0070563 glucose-galactose malabsorption -DOID:0060971 interstitial lung disease 2 +DOID:0070564 dialysis disequilibrium syndrome +DOID:0050156 idiopathic pulmonary fibrosis DOID:0081457 intrathyroid thymic carcinoma DOID:0060333 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 -DOID:0060981 mosaic variegated aneuploidy syndrome 4 -DOID:0060982 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition -DOID:0070554 palmoplantar keratoderma and woolly hair DOID:146 papilledema -DOID:0060980 polycystic liver disease 1 -DOID:0060975 polycystic liver disease 2 -DOID:0060976 polycystic liver disease 3 with or without kidney cysts -DOID:0060977 polycystic liver disease 4 with or without kidney cysts DOID:9373 postural kyphosis -DOID:0070546 primary pigmented nodular adrenocortical disease 1 -DOID:0070547 primary pigmented nodular adrenocortical disease 2 -DOID:0070548 primary pigmented nodular adrenocortical disease 3 -DOID:0070549 primary pigmented nodular adrenocortical disease 4 -DOID:0060972 renal hypomagnesemia 7, with or without dilated cardiomyopathy -DOID:0060983 sitosterolemia 2 +DOID:0070565 spermatogenic failure 66 +DOID:0070566 spermatogenic failure 67 +DOID:0070567 spermatogenic failure 68 +DOID:0070568 spermatogenic failure 69 +DOID:0070569 spermatogenic failure 70 +DOID:0070570 spermatogenic failure 71 +DOID:0070571 spermatogenic failure 72 +DOID:0070572 spermatogenic failure 73 +DOID:0070573 spermatogenic failure 74 +DOID:0070574 spermatogenic failure 75 +DOID:0070575 spermatogenic failure 76 +DOID:0070576 spermatogenic failure 77 +DOID:0070577 spermatogenic failure 78 +DOID:0070578 spermatogenic failure 79 +DOID:0070579 spermatogenic failure 80 +DOID:0070580 spermatogenic failure 81 +DOID:0070581 spermatogenic failure 82 +DOID:0070582 spermatogenic failure 83 +DOID:0070583 spermatogenic failure 84 +DOID:0070584 spermatogenic failure 85 +DOID:0070585 spermatogenic failure 86 +DOID:0070586 spermatogenic failure 87 +DOID:0070587 spermatogenic failure 88 +DOID:0070588 spermatogenic failure 89 +DOID:0070589 spermatogenic failure 90 +DOID:0070590 spermatogenic failure 91 +DOID:0070591 spermatogenic failure 92 +DOID:0070592 spermatogenic failure 93 +DOID:0070593 spermatogenic failure 94 +DOID:0070594 spermatogenic failure 95 DOID:0081458 thyroid gland cribriform morular carcinoma DOID:0081459 thyroid gland mixed medullary and follicular cell-derived carcinoma DOID:0081460 thyroid gland mucinous carcinoma -DOID:0081461 thyroid gland spindle epithelial tumor with thymus-like elements diff --git a/src/ontology/reports/icd11foundation.subclass.confirmed.robot.tsv b/src/ontology/reports/icd11foundation.subclass.confirmed.robot.tsv index 141ef5059..12e42a7cb 100644 --- a/src/ontology/reports/icd11foundation.subclass.confirmed.robot.tsv +++ b/src/ontology/reports/icd11foundation.subclass.confirmed.robot.tsv @@ -98,7 +98,6 @@ MONDO:0003713 angiokeratoma circumscriptum MONDO:0003143 icd11.foundation:225334 MONDO:0003954 angiokeratoma of Fordyce MONDO:0003143 icd11.foundation:410953318 icd11.foundation:533651286 angiokeratoma MONDO:0004495 myotonic cataract MONDO:0016107 icd11.foundation:1723425593 icd11.foundation:192087511 myotonic dystrophy MONDO:0004582 rheumatic myocarditis MONDO:0004496 icd11.foundation:1177212968 icd11.foundation:1018829714 myocarditis -MONDO:0004587 hereditary night blindness MONDO:0004588 icd11.foundation:122338861 icd11.foundation:205882698 night blindness MONDO:0004604 Hodgkin's lymphoma, lymphocytic-histiocytic predominance MONDO:0009348 icd11.foundation:352299041 icd11.foundation:1616050398 classic Hodgkin lymphoma MONDO:0004620 Hodgkin's lymphoma, lymphocytic depletion MONDO:0009348 icd11.foundation:1729182645 icd11.foundation:1616050398 classic Hodgkin lymphoma MONDO:0004633 Hodgkin's lymphoma, mixed cellularity MONDO:0009348 icd11.foundation:39515681 icd11.foundation:1616050398 classic Hodgkin lymphoma @@ -542,6 +541,7 @@ MONDO:0016227 hereditary episodic ataxia MONDO:0100309 icd11.foundation:42309568 MONDO:0016241 alternating hemiplegia of childhood MONDO:0016210 icd11.foundation:301329822 icd11.foundation:774373615 alternating hemiplegia MONDO:0016248 familial ovarian cancer MONDO:0008170 icd11.foundation:1484739866 icd11.foundation:685124533 ovarian cancer MONDO:0016249 hereditary site-specific ovarian cancer syndrome MONDO:0016248 icd11.foundation:123305976 icd11.foundation:1484739866 familial ovarian cancer +MONDO:0016293 congenital stationary night blindness MONDO:0004588 icd11.foundation:122338861 icd11.foundation:205882698 night blindness MONDO:0016307 Niemann-Pick disease type C, severe early infantile neurologic onset MONDO:0018982 icd11.foundation:587642791 icd11.foundation:812702125 Niemann-Pick disease type C MONDO:0016308 Niemann-Pick disease type C, late infantile neurologic onset MONDO:0018982 icd11.foundation:2075382821 icd11.foundation:812702125 Niemann-Pick disease type C MONDO:0016309 Niemann-Pick disease type C, juvenile neurologic onset MONDO:0018982 icd11.foundation:2006062681 icd11.foundation:812702125 Niemann-Pick disease type C @@ -816,7 +816,6 @@ MONDO:0019437 enthesitis-related juvenile idiopathic arthritis MONDO:0011429 icd MONDO:0019438 AL amyloidosis MONDO:0019065 icd11.foundation:1061366491 icd11.foundation:2078467774 amyloidosis MONDO:0019439 AA amyloidosis MONDO:0019065 icd11.foundation:570181034 icd11.foundation:2078467774 amyloidosis MONDO:0019440 wild type ABeta2M amyloidosis MONDO:0018590 icd11.foundation:499046814 icd11.foundation:448754119 ABeta2M amyloidosis -MONDO:0019441 ATTRV122I amyloidosis MONDO:0007100 icd11.foundation:1449168185 icd11.foundation:807065795 familial amyloid neuropathy MONDO:0019466 lymphomatoid granulomatosis MONDO:0018905 icd11.foundation:1890408959 icd11.foundation:1946973604 diffuse large B-cell lymphoma MONDO:0019483 methotrexate-associated lymphoproliferative disorders MONDO:0020083 icd11.foundation:1520483526 icd11.foundation:1678636940 immunodeficiency-associated lymphoproliferative disease MONDO:0019517 Waardenburg syndrome type 2 MONDO:0018094 icd11.foundation:746815303 icd11.foundation:304883627 Waardenburg syndrome @@ -945,7 +944,6 @@ MONDO:0100164 permanent neonatal diabetes mellitus MONDO:0016391 icd11.foundatio MONDO:0100285 extrahepatic biliary atresia MONDO:0008867 icd11.foundation:1813934523 icd11.foundation:645741117 biliary atresia MONDO:0100459 azoospermia MONDO:0005372 icd11.foundation:532688254 icd11.foundation:753457327 male infertility MONDO:0100512 mitochondrial DNA depletion syndrome, hepatocerebral form MONDO:0018158 icd11.foundation:1285620325 icd11.foundation:1159345506 mitochondrial DNA depletion syndrome -MONDO:0100552 ATTRV30M amyloidosis MONDO:0007100 icd11.foundation:1736273667 icd11.foundation:807065795 familial amyloid neuropathy MONDO:0800305 myelofibrosis with myeloid metaplasia MONDO:0009692 icd11.foundation:673220507 icd11.foundation:336704235 primary myelofibrosis MONDO:0850001 congenital neuronal ceroid lipofuscinosis MONDO:0016295 icd11.foundation:641209188 icd11.foundation:1568332253 neuronal ceroid lipofuscinosis MONDO:0850231 erythema nodosum MONDO:0006591 icd11.foundation:1628519266 icd11.foundation:1056888958 panniculitis diff --git a/src/ontology/reports/mirror_signature-doid.tsv b/src/ontology/reports/mirror_signature-doid.tsv index e085b0452..50ba4b30e 100644 --- a/src/ontology/reports/mirror_signature-doid.tsv +++ b/src/ontology/reports/mirror_signature-doid.tsv @@ -3074,6 +3074,42 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + @@ -14910,19 +14946,17 @@ - - - + @@ -14966,12 +15000,10 @@ - - @@ -15031,7 +15063,6 @@ - @@ -15056,6 +15087,7 @@ + @@ -15163,7 +15195,6 @@ - @@ -15184,7 +15215,6 @@ - @@ -15220,6 +15250,10 @@ + + + + @@ -15243,7 +15277,6 @@ - @@ -15314,7 +15347,6 @@ - @@ -17974,8 +18006,11 @@ + + + @@ -18052,9 +18087,11 @@ + + @@ -18062,6 +18099,7 @@ + @@ -18214,8 +18252,10 @@ + + @@ -18266,6 +18306,7 @@ + @@ -18301,8 +18342,11 @@ + + + @@ -18319,10 +18363,14 @@ + + + + @@ -18333,6 +18381,7 @@ + @@ -18366,6 +18415,8 @@ + + @@ -18485,7 +18536,9 @@ + + @@ -18498,8 +18551,10 @@ + + @@ -18538,6 +18593,7 @@ + @@ -18547,6 +18603,7 @@ + @@ -18564,6 +18621,7 @@ + @@ -18596,8 +18654,13 @@ + + + + + @@ -18610,6 +18673,7 @@ + @@ -18619,6 +18683,7 @@ + @@ -18627,6 +18692,8 @@ + + @@ -18662,9 +18729,11 @@ + + diff --git a/src/ontology/reports/mirror_signature-mondo.tsv b/src/ontology/reports/mirror_signature-mondo.tsv index 65d915874..bba3e4dea 100644 --- a/src/ontology/reports/mirror_signature-mondo.tsv +++ b/src/ontology/reports/mirror_signature-mondo.tsv @@ -3825,6 +3825,7 @@ + @@ -3862,6 +3863,9 @@ + + + @@ -3930,6 +3934,7 @@ + @@ -7842,6 +7847,7 @@ + @@ -8305,6 +8311,11 @@ + + + + + @@ -8314,6 +8325,7 @@ + @@ -8952,6 +8964,7 @@ + @@ -9288,6 +9301,7 @@ + @@ -9394,6 +9408,7 @@ + @@ -9672,9 +9687,12 @@ + + + @@ -11025,6 +11043,10 @@ + + + + @@ -11032,6 +11054,7 @@ + @@ -11042,6 +11065,7 @@ + @@ -11679,6 +11703,9 @@ + + + @@ -13419,6 +13446,7 @@ + @@ -14921,6 +14949,7 @@ + @@ -14950,6 +14979,7 @@ + @@ -15545,6 +15575,7 @@ + @@ -15669,6 +15700,11 @@ + + + + + @@ -16628,6 +16664,7 @@ + @@ -16637,6 +16674,9 @@ + + + @@ -16863,6 +16903,7 @@ + @@ -42708,6 +42749,7 @@ + @@ -43973,10 +44015,55 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + @@ -44247,6 +44334,7 @@ + @@ -44350,6 +44438,9 @@ + + + @@ -44453,6 +44544,8 @@ + + @@ -44502,8 +44595,14 @@ + + + + + + @@ -44526,8 +44625,13 @@ + + + + + @@ -44540,24 +44644,44 @@ + + + + + + + + + + + + + + + + + + + + @@ -44587,10 +44711,19 @@ + + + + + + + + + @@ -44636,6 +44769,15 @@ + + + + + + + + + @@ -44650,6 +44792,41 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + @@ -44659,6 +44836,7 @@ + @@ -44670,12 +44848,16 @@ + + + + @@ -44693,7 +44875,9 @@ + + @@ -44755,11 +44939,21 @@ + + + + + + + + + + @@ -44778,6 +44972,7 @@ + @@ -44814,9 +45009,14 @@ + + + + + @@ -44838,6 +45038,7 @@ + @@ -44845,6 +45046,7 @@ + @@ -44890,6 +45092,9 @@ + + + @@ -44900,6 +45105,11 @@ + + + + + @@ -44953,16 +45163,37 @@ + + + + + + + + + + + + + + + + + + + + + @@ -46201,10 +46432,20 @@ + + + + + + + + + + @@ -46225,6 +46466,7 @@ + @@ -47191,6 +47433,7 @@ + @@ -47968,6 +48211,7 @@ + @@ -48114,10 +48358,12 @@ + + @@ -48141,6 +48387,7 @@ + diff --git a/src/ontology/reports/mirror_signature-omim.tsv b/src/ontology/reports/mirror_signature-omim.tsv index 1e16a31ba..c24e6e943 100644 --- a/src/ontology/reports/mirror_signature-omim.tsv +++ b/src/ontology/reports/mirror_signature-omim.tsv @@ -1,4 +1,3414 @@ ?term + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + 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neuroendocrine tumor, well differentiated, low or intermediate grade MONDO:0006801 NCIT:C135092 NCIT:C3130 ileal neoplasm MONDO:0015066 neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade MONDO:0024501 NCIT:C96422 NCIT:C60709 appendix neuroendocrine neoplasm MONDO:0015067 neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor MONDO:0002882 NCIT:C135212 NCIT:C5697 colon neuroendocrine neoplasm -MONDO:0015068 neuroendocrine tumor of rectum, well differentiated, low or intermediate grade MONDO:0003646 NCIT:C135213 NCIT:C5698 rectum neuroendocrine neoplasm +MONDO:0015068 rectal neuroendocrine tumor MONDO:0003646 NCIT:C135213 NCIT:C5698 rectum neuroendocrine neoplasm MONDO:0015069 neuroendocrine tumor of the anal canal MONDO:0003504 NCIT:C96540 NCIT:C5603 anal canal neuroendocrine neoplasm MONDO:0015070 laryngeal neuroendocrine neoplasm MONDO:0021071 NCIT:C6023 NCIT:C3156 laryngeal neoplasm MONDO:0015072 liver neuroendocrine carcinoma MONDO:0018531 NCIT:C96787 NCIT:C7927 carcinoma of liver and intrahepatic biliary tract @@ -3613,7 +3613,7 @@ MONDO:0021531 fibroma of lung MONDO:0005167 NCIT:C5658 NCIT:C3041 fibroma MONDO:0021532 fibroma of prostate MONDO:0005167 NCIT:C3972 NCIT:C3041 fibroma MONDO:0021532 fibroma of prostate MONDO:0021510 NCIT:C3972 NCIT:C3613 benign neoplasm of prostate MONDO:0021534 rectal neuroendocrine tumor G1 MONDO:0006162 NCIT:C5547 NCIT:C96160 colorectal neuroendocrine tumor G1 -MONDO:0021534 rectal neuroendocrine tumor G1 MONDO:0015068 NCIT:C5547 NCIT:C135213 neuroendocrine tumor of rectum, well differentiated, low or intermediate grade +MONDO:0021534 rectal neuroendocrine tumor G1 MONDO:0015068 NCIT:C5547 NCIT:C135213 rectal neuroendocrine tumor MONDO:0021535 pancreatic neuroendocrine tumor G1 MONDO:0019954 NCIT:C95584 NCIT:C27720 pancreatic neuroendocrine tumor MONDO:0021538 verrucous carcinoma of oral cavity MONDO:0004958 NCIT:C8174 NCIT:C4833 oral cavity squamous cell carcinoma MONDO:0021538 verrucous carcinoma of oral cavity MONDO:0006006 NCIT:C8174 NCIT:C3781 verrucous carcinoma diff --git a/src/ontology/reports/omim.subclass.added.robot.tsv b/src/ontology/reports/omim.subclass.added.robot.tsv index 5b0ce7fb1..c81f2318f 100644 --- a/src/ontology/reports/omim.subclass.added.robot.tsv +++ b/src/ontology/reports/omim.subclass.added.robot.tsv @@ -1,5 +1,6 @@ subject_mondo_id subject_mondo_label object_mondo_id subject_source_id object_source_id object_mondo_label ID AI obo:mondo#excluded_subClassOf >A oboInOwl:source +MONDO:0004980 atopic eczema MONDO:0100178 OMIM:603165 OMIMPS:603165 dermatitis, atopic, susceptibility to MONDO:0005260 autism MONDO:0020836 OMIM:209850 OMIMPS:209850 autism, susceptiblity to MONDO:0007039 neurofibromatosis type 2 MONDO:0008075 OMIM:101000 OMIMPS:162091 schwannomatosis MONDO:0007097 Finnish type amyloidosis MONDO:0007100 OMIM:105120 OMIMPS:105210 familial amyloid neuropathy @@ -47,6 +48,7 @@ MONDO:0010504 immunodeficiency 47 MONDO:0005501 OMIM:300972 OMIMPS:212066 congen MONDO:0010504 immunodeficiency 47 MONDO:0021094 OMIM:300972 OMIMPS:300755 immunodeficiency disease MONDO:0010506 intellectual disability, X-linked 61 MONDO:0020119 OMIM:300978 OMIMPS:309510 X-linked syndromic intellectual disability MONDO:0010533 Arts syndrome MONDO:0020119 OMIM:301835 OMIMPS:309510 X-linked syndromic intellectual disability +MONDO:0010587 epidermodysplasia verruciformis, X-linked MONDO:0100043 OMIM:305350 OMIMPS:226400 epidermodysplasia verruciformis, susceptibility to MONDO:0010589 Aarskog-Scott syndrome, X-linked MONDO:0020119 OMIM:305400 OMIMPS:309510 X-linked syndromic intellectual disability MONDO:0010659 FRAXE intellectual disability MONDO:0020119 OMIM:309548 OMIMPS:309510 X-linked syndromic intellectual disability MONDO:0010702 orofaciodigital syndrome I MONDO:0015375 OMIM:311200 OMIMPS:311200 orofaciodigital syndrome @@ -69,13 +71,8 @@ MONDO:0011491 epilepsy, idiopathic generalized, susceptibility to, 7 MONDO:00055 MONDO:0011491 epilepsy, idiopathic generalized, susceptibility to, 7 MONDO:0009696 OMIM:604827 OMIMPS:254770 juvenile myoclonic epilepsy MONDO:0011542 psoriasis 6, susceptibility to MONDO:0005083 OMIM:605364 OMIMPS:177900 psoriasis MONDO:0011573 psoriasis 7, susceptibility to MONDO:0005083 OMIM:605606 OMIMPS:177900 psoriasis -MONDO:0011596 dermatitis, atopic, 2 MONDO:0004980 OMIM:605803 OMIMPS:603165 atopic eczema -MONDO:0011597 dermatitis, atopic, 3 MONDO:0004980 OMIM:605804 OMIMPS:603165 atopic eczema -MONDO:0011598 dermatitis, atopic, 4 MONDO:0004980 OMIM:605805 OMIMPS:603165 atopic eczema MONDO:0011603 GNE myopathy MONDO:0018949 OMIM:605820 OMIMPS:160500 distal myopathy MONDO:0011607 narcolepsy 2, susceptibility to MONDO:0100554 OMIM:605841 OMIMPS:161400 hereditary narcolepsy -MONDO:0011608 dermatitis, atopic, 5 MONDO:0004980 OMIM:605844 OMIMPS:603165 atopic eczema -MONDO:0011609 dermatitis, atopic, 6 MONDO:0004980 OMIM:605845 OMIMPS:603165 atopic eczema MONDO:0011650 atrioventricular septal defect, susceptibility to, 2 MONDO:0020290 OMIM:606217 OMIMPS:606215 familial atrioventricular septal defect MONDO:0011714 partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome MONDO:0020088 OMIM:606721 OMIMPS:151660 familial partial lipodystrophy MONDO:0011738 bilateral frontoparietal polymicrogyria MONDO:0000904 OMIM:606854 OMIMPS:614039 complex cortical dysplasia with other brain malformations @@ -148,15 +145,12 @@ MONDO:0013057 psoriasis 12, susceptibility to MONDO:0005083 OMIM:612950 OMIMPS:1 MONDO:0013103 epilepsy, idiopathic generalized, susceptibility to, 10 MONDO:0005579 OMIM:613060 OMIMPS:600669 epilepsy, idiopathic generalized MONDO:0013103 epilepsy, idiopathic generalized, susceptibility to, 10 MONDO:0009696 OMIM:613060 OMIMPS:254770 juvenile myoclonic epilepsy MONDO:0013103 epilepsy, idiopathic generalized, susceptibility to, 10 MONDO:0018214 OMIM:613060 OMIMPS:604233 generalized epilepsy with febrile seizures plus -MONDO:0013107 dermatitis, atopic, 7 MONDO:0004980 OMIM:613064 OMIMPS:603165 atopic eczema MONDO:0013129 cone dystrophy 4 MONDO:0015993 OMIM:613093 OMIMPS:120970 cone-rod dystrophy MONDO:0013146 Brugada syndrome 7 MONDO:0018054 OMIM:613120 OMIMPS:608583 familial atrial fibrillation MONDO:0013193 thyrotoxic periodic paralysis, susceptibility to, 2 MONDO:0019201 OMIM:613239 OMIMPS:188580 thyrotoxic periodic paralysis MONDO:0013261 dilated cardiomyopathy 1R MONDO:0016333 OMIM:613424 OMIMPS:115200 familial dilated cardiomyopathy MONDO:0013262 dilated cardiomyopathy 1S MONDO:0016333 OMIM:613426 OMIMPS:115200 familial dilated cardiomyopathy MONDO:0013263 retinitis pigmentosa 54 MONDO:0015993 OMIM:613428 OMIMPS:120970 cone-rod dystrophy -MONDO:0013294 dermatitis, atopic, 8 MONDO:0004980 OMIM:613518 OMIMPS:603165 atopic eczema -MONDO:0013295 dermatitis, atopic, 9 MONDO:0004980 OMIM:613519 OMIMPS:603165 atopic eczema MONDO:0013340 Parkinson disease 5, autosomal dominant, susceptibility to MONDO:0005180 OMIM:613643 OMIMPS:168600 Parkinson disease MONDO:0013383 Hirschsprung disease, susceptibility to, 3 MONDO:0018309 OMIM:613711 OMIMPS:142623 Hirschsprung disease MONDO:0013384 Hirschsprung disease, susceptibility to, 4 MONDO:0018309 OMIM:613712 OMIMPS:142623 Hirschsprung disease diff --git a/src/ontology/reports/omim.subclass.confirmed.robot.tsv b/src/ontology/reports/omim.subclass.confirmed.robot.tsv index bf47638b3..1783f8e60 100644 --- a/src/ontology/reports/omim.subclass.confirmed.robot.tsv +++ b/src/ontology/reports/omim.subclass.confirmed.robot.tsv @@ -73,7 +73,6 @@ MONDO:0007424 autosomal dominant nonsyndromic hearing loss 1 MONDO:0019587 OMIM: MONDO:0007478 autosomal dominant Kenny-Caffey syndrome MONDO:0016516 OMIM:127000 OMIMPS:127000 Kenny-Caffey syndrome MONDO:0007483 dyschromatosis symmetrica hereditaria MONDO:0000118 OMIM:127400 OMIMPS:179850 reticulate pigment disorder MONDO:0007485 dyskeratosis congenita, autosomal dominant 1 MONDO:0015780 OMIM:127550 OMIMPS:127550 dyskeratosis congenita -MONDO:0007495 dystonia 5 MONDO:0044807 OMIM:128230 OMIMPS:128100 inherited dystonia MONDO:0007510 Clouston syndrome MONDO:0019287 OMIM:129500 OMIMPS:305100 ectodermal dysplasia syndrome MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type MONDO:0020066 OMIM:130020 OMIMPS:130000 Ehlers-Danlos syndrome MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasia type MONDO:0020066 OMIM:130060 OMIMPS:130000 Ehlers-Danlos syndrome @@ -417,7 +416,6 @@ MONDO:0009758 congenital stationary night blindness 1B MONDO:0016293 OMIM:257270 MONDO:0009759 mosaic variegated aneuploidy syndrome 1 MONDO:0000141 OMIM:257300 OMIMPS:257300 mosaic variegated aneuploidy syndrome MONDO:0009762 nystagmus, congenital, autosomal recessive MONDO:0005712 OMIM:257400 OMIMPS:310700 congenital nystagmus MONDO:0009770 3MC syndrome 1 MONDO:0017398 OMIM:257920 OMIMPS:257920 3MC syndrome -MONDO:0009775 Oguchi disease-1 MONDO:0016293 OMIM:258100 OMIMPS:310500 congenital stationary night blindness MONDO:0009776 spermatogenic failure 1 MONDO:0004983 OMIM:258150 OMIMPS:258150 spermatogenic failure MONDO:0009779 autosomal recessive omodysplasia MONDO:0017136 OMIM:258315 OMIMPS:258315 omodysplasia MONDO:0009783 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 MONDO:0000090 OMIM:258450 OMIMPS:157640 progressive external ophthalmoplegia with mitochondrial DNA deletions @@ -794,7 +792,6 @@ MONDO:0011283 mitochondrial DNA depletion syndrome 1 MONDO:0018158 OMIM:603041 O MONDO:0011285 age related macular degeneration 1 MONDO:0005150 OMIM:603075 OMIMPS:603075 age-related macular degeneration MONDO:0011286 autosomal recessive nonsyndromic hearing loss 13 MONDO:0019588 OMIM:603098 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0011291 ALG6-congenital disorder of glycosylation 1C MONDO:0005500 OMIM:603147 OMIMPS:212065 congenital disorder of glycosylation type I -MONDO:0011292 dermatitis, atopic MONDO:0004980 OMIM:603165 OMIMPS:603165 atopic eczema MONDO:0011296 Meckel syndrome, type 2 MONDO:0018921 OMIM:603194 OMIMPS:249000 Meckel syndrome MONDO:0011297 autosomal dominant nocturnal frontal lobe epilepsy 2 MONDO:0000030 OMIM:603204 OMIMPS:600513 sleep-related hypermotor epilepsy MONDO:0011300 myopia 3, autosomal dominant MONDO:0001384 OMIM:603221 OMIMPS:160700 myopia @@ -893,7 +890,12 @@ MONDO:0011589 microphthalmia with coloboma 2 MONDO:0000170 OMIM:605738 OMIMPS:30 MONDO:0011592 exudative vitreoretinopathy 3 MONDO:0019516 OMIM:605750 OMIMPS:133780 exudative vitreoretinopathy MONDO:0011593 seizures, benign familial infantile, 2 MONDO:0017615 OMIM:605751 OMIMPS:601764 benign familial infantile epilepsy MONDO:0011595 nonsyndromic congenital nail disorder 7 MONDO:0019284 OMIM:605779 OMIMPS:161050 inherited isolated nail anomaly +MONDO:0011596 dermatitis, atopic, 2 MONDO:0100178 OMIM:605803 OMIMPS:603165 dermatitis, atopic, susceptibility to +MONDO:0011597 dermatitis, atopic, 3 MONDO:0100178 OMIM:605804 OMIMPS:603165 dermatitis, atopic, susceptibility to +MONDO:0011598 dermatitis, atopic, 4 MONDO:0100178 OMIM:605805 OMIMPS:603165 dermatitis, atopic, susceptibility to MONDO:0011602 autosomal recessive nonsyndromic hearing loss 27 MONDO:0019588 OMIM:605818 OMIMPS:220290 hearing loss, autosomal recessive +MONDO:0011608 dermatitis, atopic, 5 MONDO:0100178 OMIM:605844 OMIMPS:603165 dermatitis, atopic, susceptibility to +MONDO:0011609 dermatitis, atopic, 6 MONDO:0100178 OMIM:605845 OMIMPS:603165 dermatitis, atopic, susceptibility to MONDO:0011616 holoprosencephaly 6 MONDO:0016296 OMIM:605934 OMIMPS:236100 holoprosencephaly MONDO:0011625 autosomal dominant nonsyndromic hearing loss 18 MONDO:0019587 OMIM:606012 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0011627 autism, susceptibility to, 5 MONDO:0020836 OMIM:606053 OMIMPS:209850 autism, susceptiblity to @@ -1503,6 +1505,7 @@ MONDO:0013095 glioma susceptibility 6 MONDO:0100242 OMIM:613031 OMIMPS:137800 gl MONDO:0013096 glioma susceptibility 7 MONDO:0100242 OMIM:613032 OMIMPS:137800 glioma susceptibility MONDO:0013097 glioma susceptibility 8 MONDO:0100242 OMIM:613033 OMIMPS:137800 glioma susceptibility MONDO:0013100 atrial fibrillation, familial, 8 MONDO:0018054 OMIM:613055 OMIMPS:608583 familial atrial fibrillation +MONDO:0013107 dermatitis, atopic, 7 MONDO:0100178 OMIM:613064 OMIMPS:603165 dermatitis, atopic, susceptibility to MONDO:0013114 autosomal dominant nonsyndromic hearing loss 50 MONDO:0019587 OMIM:613074 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0013119 autosomal recessive nonsyndromic hearing loss 77 MONDO:0019588 OMIM:613079 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0013120 46,XY sex reversal 5 MONDO:0010765 OMIM:613080 OMIMPS:400044 46,XY complete gonadal dysgenesis @@ -1576,7 +1579,6 @@ MONDO:0013253 breast-ovarian cancer, familial, susceptibility to, 3 MONDO:010052 MONDO:0013254 microcephaly, seizures, and developmental delay MONDO:0100062 OMIM:613402 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0013255 arthrogryposis, renal dysfunction, and cholestasis 2 MONDO:0017123 OMIM:613404 OMIMPS:208085 arthrogryposis-renal dysfunction-cholestasis syndrome MONDO:0013258 autism, susceptibility to, 16 MONDO:0020836 OMIM:613410 OMIMPS:209850 autism, susceptiblity to -MONDO:0013259 Oguchi disease-2 MONDO:0016293 OMIM:613411 OMIMPS:310500 congenital stationary night blindness MONDO:0013261 dilated cardiomyopathy 1R MONDO:0018901 OMIM:613424 OMIMPS:604169 left ventricular noncompaction MONDO:0013262 dilated cardiomyopathy 1S MONDO:0018901 OMIM:613426 OMIMPS:604169 left ventricular noncompaction MONDO:0013263 retinitis pigmentosa 54 MONDO:0019200 OMIM:613428 OMIMPS:268000 retinitis pigmentosa @@ -1595,6 +1597,8 @@ MONDO:0013284 immunodeficiency, common variable, 4 MONDO:0015517 OMIM:613494 OMI MONDO:0013285 immunodeficiency, common variable, 5 MONDO:0015517 OMIM:613495 OMIMPS:607594 common variable immunodeficiency MONDO:0013286 immunodeficiency, common variable, 6 MONDO:0015517 OMIM:613496 OMIMPS:607594 common variable immunodeficiency MONDO:0013293 isolated microphthalmia 6 MONDO:0000062 OMIM:613517 OMIMPS:251600 isolated microphthalmia +MONDO:0013294 dermatitis, atopic, 8 MONDO:0100178 OMIM:613518 OMIMPS:603165 dermatitis, atopic, susceptibility to +MONDO:0013295 dermatitis, atopic, 9 MONDO:0100178 OMIM:613519 OMIMPS:603165 dermatitis, atopic, susceptibility to MONDO:0013297 autosomal dominant limb-girdle muscular dystrophy type 1H MONDO:0015151 OMIM:613530 OMIMPS:603511 muscular dystrophy, limb-girdle, autosomal dominant MONDO:0013302 nephronophthisis 11 MONDO:0019005 OMIM:613550 OMIMPS:256100 nephronophthisis MONDO:0013305 autosomal dominant nonsyndromic hearing loss 51 MONDO:0019587 OMIM:613558 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss @@ -1807,7 +1811,6 @@ MONDO:0013683 vesicoureteral reflux 5 MONDO:0017329 OMIM:614318 OMIMPS:193000 fa MONDO:0013684 vesicoureteral reflux 6 MONDO:0017329 OMIM:614319 OMIMPS:193000 familial vesicoureteral reflux MONDO:0013689 ovarian dysgenesis 3 MONDO:0009299 OMIM:614324 OMIMPS:233300 46 XX gonadal dysgenesis MONDO:0013691 Feingold syndrome type 2 MONDO:0015267 OMIM:614326 OMIMPS:164280 Feingold syndrome -MONDO:0013693 inflammatory skin and bowel disease, neonatal, 1 MONDO:0017411 OMIM:614328 OMIMPS:614328 neonatal inflammatory skin and bowel disease MONDO:0013694 intellectual disability, autosomal recessive 31 MONDO:0019502 OMIM:614329 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0013695 colorectal cancer, hereditary nonpolyposis, type 6 MONDO:0018630 OMIM:614331 OMIMPS:120435 hereditary nonpolyposis colon cancer MONDO:0013697 intellectual disability, autosomal recessive 29 MONDO:0019502 OMIM:614333 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability @@ -2248,7 +2251,6 @@ MONDO:0014474 autosomal recessive limb-girdle muscular dystrophy type 2U MONDO:0 MONDO:0014476 episodic ataxia type 8 MONDO:0016227 OMIM:616055 OMIMPS:160120 hereditary episodic ataxia MONDO:0014478 mirror movements 3 MONDO:0016558 OMIM:616059 OMIMPS:157600 familial congenital mirror movements MONDO:0014480 46,XY sex reversal 9 MONDO:0010765 OMIM:616067 OMIMPS:400044 46,XY complete gonadal dysgenesis -MONDO:0014481 inflammatory skin and bowel disease, neonatal, 2 MONDO:0017411 OMIM:616069 OMIMPS:614328 neonatal inflammatory skin and bowel disease MONDO:0014484 microcephaly 12, primary, autosomal recessive MONDO:0016660 OMIM:616080 OMIMPS:251200 autosomal recessive primary microcephaly MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency MONDO:0000173 OMIM:616094 OMIMPS:609308 muscular dystrophy-dystroglycanopathy, type C MONDO:0014496 mitochondrial complex III deficiency nuclear type 9 MONDO:0020811 OMIM:616111 OMIMPS:124000 mitochondrial complex III deficiency, nuclear type @@ -3684,6 +3686,7 @@ MONDO:0957780 developmental and epileptic encephalopathy 111 MONDO:0100062 OMIM: MONDO:0957788 spastic paraplegia 18a, autosomal dominant MONDO:0019064 OMIM:620512 OMIMPS:303350 hereditary spastic paraplegia MONDO:0957809 neutropenia, severe congenital, 10, autosomal recessive MONDO:0018542 OMIM:620534 OMIMPS:202700 severe congenital neutropenia MONDO:0957812 developmental and epileptic encephalopathy 112 MONDO:0100062 OMIM:620537 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0957813 spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia MONDO:0019064 OMIM:620538 OMIMPS:303350 hereditary spastic paraplegia MONDO:0957819 arthrogryposis, distal, type 12 MONDO:0019942 OMIM:620545 OMIMPS:108120 distal arthrogryposis MONDO:0957820 congenital disorder of glycosylation, type IIbb MONDO:0005501 OMIM:620546 OMIMPS:212066 congenital disorder of glycosylation type II MONDO:0957821 spermatogenic failure 88 MONDO:0004983 OMIM:620547 OMIMPS:258150 spermatogenic failure @@ -3809,6 +3812,7 @@ MONDO:0971151 immunodeficiency 122 MONDO:0021094 OMIM:620869 OMIMPS:300755 immun MONDO:0971152 hearing loss, autosomal recessive 125 MONDO:0019588 OMIM:620877 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0971171 muscular dystrophy, limb-girdle, autosomal recessive 29 MONDO:0015152 OMIM:620793 OMIMPS:253600 autosomal recessive limb-girdle muscular dystrophy MONDO:0971174 multiple mitochondrial dysfunctions syndrome 9b MONDO:0017338 OMIM:620887 OMIMPS:605711 fatal multiple mitochondrial dysfunctions syndrome +MONDO:0971177 immunodeficiency 123 with HPV-related verrucosis MONDO:0021094 OMIM:620901 OMIMPS:300755 immunodeficiency disease MONDO:8000006 WHIM syndrome 1 MONDO:0023880 OMIM:193670 OMIMPS:193670 WHIM syndrome MONDO:8000008 Martsolf syndrome 1 MONDO:0023910 OMIM:212720 OMIMPS:212720 Martsolf syndrome MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive MONDO:0023961 OMIM:243180 OMIMPS:243180 visceral neuropathy, familial diff --git a/src/ontology/reports/omim_exclusion_reasons.robot.template.tsv b/src/ontology/reports/omim_exclusion_reasons.robot.template.tsv index 602980120..b926867f6 100644 --- a/src/ontology/reports/omim_exclusion_reasons.robot.template.tsv +++ b/src/ontology/reports/omim_exclusion_reasons.robot.template.tsv @@ -3144,6 +3144,9 @@ OMIM:301112 MONDO:excludeGene OMIM:301113 MONDO:excludeGene OMIM:301117 MONDO:excludeGene OMIM:301121 MONDO:excludeGene +OMIM:301122 MONDO:excludeGene +OMIM:301123 MONDO:excludeGene +OMIM:301124 MONDO:excludeGene OMIM:301300 MONDO:excludeGene OMIM:301770 MONDO:excludeGene OMIM:301780 MONDO:excludeGene @@ -17606,6 +17609,26 @@ OMIM:620906 MONDO:excludeGene OMIM:620907 MONDO:excludeGene OMIM:620909 MONDO:excludeGene OMIM:620912 MONDO:excludeGene +OMIM:620913 MONDO:excludeGene +OMIM:620914 MONDO:excludeGene +OMIM:620915 MONDO:excludeGene +OMIM:620916 MONDO:excludeGene +OMIM:620918 MONDO:excludeGene +OMIM:620919 MONDO:excludeGene +OMIM:620920 MONDO:excludeGene +OMIM:620921 MONDO:excludeGene +OMIM:620922 MONDO:excludeGene +OMIM:620924 MONDO:excludeGene +OMIM:620925 MONDO:excludeGene +OMIM:620927 MONDO:excludeGene +OMIM:620928 MONDO:excludeGene +OMIM:620929 MONDO:excludeGene +OMIM:620930 MONDO:excludeGene +OMIM:620932 MONDO:excludeGene +OMIM:620933 MONDO:excludeGene +OMIM:620934 MONDO:excludeGene +OMIM:620935 MONDO:excludeGene +OMIM:620936 MONDO:excludeGene OMIMPS:151623 MONDO:excludeGrouping OMIM:100640 MONDO:excludeNonDisease OMIM:100660 MONDO:excludeNonDisease @@ -19419,6 +19442,9 @@ OMIM:301104 MONDO:excludeNonDisease OMIM:301112 MONDO:excludeNonDisease OMIM:301117 MONDO:excludeNonDisease OMIM:301121 MONDO:excludeNonDisease +OMIM:301122 MONDO:excludeNonDisease +OMIM:301123 MONDO:excludeNonDisease +OMIM:301124 MONDO:excludeNonDisease OMIM:301780 MONDO:excludeNonDisease OMIM:302020 MONDO:excludeNonDisease OMIM:302650 MONDO:excludeNonDisease @@ -19536,7 +19562,6 @@ OMIM:590100 MONDO:excludeNonDisease OMIM:590105 MONDO:excludeNonDisease OMIM:600004 MONDO:excludeNonDisease OMIM:600006 MONDO:excludeNonDisease -OMIM:600007 MONDO:excludeNonDisease OMIM:600009 MONDO:excludeNonDisease OMIM:600010 MONDO:excludeNonDisease OMIM:600012 MONDO:excludeNonDisease @@ -20504,7 +20529,6 @@ OMIM:602233 MONDO:excludeNonDisease OMIM:602234 MONDO:excludeNonDisease OMIM:602239 MONDO:excludeNonDisease OMIM:602240 MONDO:excludeNonDisease -OMIM:602245 MONDO:excludeNonDisease OMIM:602246 MONDO:excludeNonDisease OMIM:602251 MONDO:excludeNonDisease OMIM:602253 MONDO:excludeNonDisease @@ -26567,7 +26591,6 @@ OMIM:612902 MONDO:excludeNonDisease OMIM:612903 MONDO:excludeNonDisease OMIM:612904 MONDO:excludeNonDisease OMIM:612905 MONDO:excludeNonDisease -OMIM:612906 MONDO:excludeNonDisease OMIM:612909 MONDO:excludeNonDisease OMIM:612910 MONDO:excludeNonDisease OMIM:612912 MONDO:excludeNonDisease @@ -27038,7 +27061,6 @@ OMIM:614242 MONDO:excludeNonDisease OMIM:614244 MONDO:excludeNonDisease OMIM:614247 MONDO:excludeNonDisease OMIM:614248 MONDO:excludeNonDisease -OMIM:614259 MONDO:excludeNonDisease OMIM:614263 MONDO:excludeNonDisease OMIM:614264 MONDO:excludeNonDisease OMIM:614267 MONDO:excludeNonDisease @@ -29934,6 +29956,7 @@ OMIM:620797 MONDO:excludeNonDisease OMIM:620798 MONDO:excludeNonDisease OMIM:620799 MONDO:excludeNonDisease OMIM:620800 MONDO:excludeNonDisease +OMIM:620801 MONDO:excludeNonDisease OMIM:620802 MONDO:excludeNonDisease OMIM:620803 MONDO:excludeNonDisease OMIM:620804 MONDO:excludeNonDisease @@ -29983,7 +30006,6 @@ OMIM:620871 MONDO:excludeNonDisease OMIM:620872 MONDO:excludeNonDisease OMIM:620873 MONDO:excludeNonDisease OMIM:620874 MONDO:excludeNonDisease -OMIM:620875 MONDO:excludeNonDisease OMIM:620876 MONDO:excludeNonDisease OMIM:620878 MONDO:excludeNonDisease OMIM:620879 MONDO:excludeNonDisease @@ -30009,6 +30031,26 @@ OMIM:620906 MONDO:excludeNonDisease OMIM:620907 MONDO:excludeNonDisease OMIM:620909 MONDO:excludeNonDisease OMIM:620912 MONDO:excludeNonDisease +OMIM:620913 MONDO:excludeNonDisease +OMIM:620914 MONDO:excludeNonDisease +OMIM:620915 MONDO:excludeNonDisease +OMIM:620916 MONDO:excludeNonDisease +OMIM:620918 MONDO:excludeNonDisease +OMIM:620919 MONDO:excludeNonDisease +OMIM:620920 MONDO:excludeNonDisease +OMIM:620921 MONDO:excludeNonDisease +OMIM:620922 MONDO:excludeNonDisease +OMIM:620924 MONDO:excludeNonDisease +OMIM:620925 MONDO:excludeNonDisease +OMIM:620927 MONDO:excludeNonDisease +OMIM:620928 MONDO:excludeNonDisease +OMIM:620929 MONDO:excludeNonDisease +OMIM:620930 MONDO:excludeNonDisease +OMIM:620932 MONDO:excludeNonDisease +OMIM:620933 MONDO:excludeNonDisease +OMIM:620934 MONDO:excludeNonDisease +OMIM:620935 MONDO:excludeNonDisease +OMIM:620936 MONDO:excludeNonDisease OMIM:123270 MONDO:excludePhenotype OMIM:130180 MONDO:excludePhenotype OMIM:131500 MONDO:excludePhenotype @@ -34878,6 +34920,9 @@ OMIM:301112 MONDO:nonDisease OMIM:301113 MONDO:nonDisease OMIM:301117 MONDO:nonDisease OMIM:301121 MONDO:nonDisease +OMIM:301122 MONDO:nonDisease +OMIM:301123 MONDO:nonDisease +OMIM:301124 MONDO:nonDisease OMIM:301300 MONDO:nonDisease OMIM:301770 MONDO:nonDisease OMIM:301780 MONDO:nonDisease @@ -49154,3 +49199,23 @@ OMIM:620906 MONDO:nonDisease OMIM:620907 MONDO:nonDisease OMIM:620909 MONDO:nonDisease OMIM:620912 MONDO:nonDisease +OMIM:620913 MONDO:nonDisease +OMIM:620914 MONDO:nonDisease +OMIM:620915 MONDO:nonDisease +OMIM:620916 MONDO:nonDisease +OMIM:620918 MONDO:nonDisease +OMIM:620919 MONDO:nonDisease +OMIM:620920 MONDO:nonDisease +OMIM:620921 MONDO:nonDisease +OMIM:620922 MONDO:nonDisease +OMIM:620924 MONDO:nonDisease +OMIM:620925 MONDO:nonDisease +OMIM:620927 MONDO:nonDisease +OMIM:620928 MONDO:nonDisease +OMIM:620929 MONDO:nonDisease +OMIM:620930 MONDO:nonDisease +OMIM:620932 MONDO:nonDisease +OMIM:620933 MONDO:nonDisease +OMIM:620934 MONDO:nonDisease +OMIM:620935 MONDO:nonDisease +OMIM:620936 MONDO:nonDisease diff --git a/src/ontology/reports/omim_mapped_deprecated_terms.robot.template.tsv b/src/ontology/reports/omim_mapped_deprecated_terms.robot.template.tsv index 6b45d605e..2a3a77e0f 100644 --- a/src/ontology/reports/omim_mapped_deprecated_terms.robot.template.tsv +++ b/src/ontology/reports/omim_mapped_deprecated_terms.robot.template.tsv @@ -11,7 +11,6 @@ MONDO:0008091 OMIM:162820 MONDO:equivalentObsolete MONDO:0008126 OMIM:164891 MONDO:equivalentObsolete MONDO:0008204 OMIM:168850 MONDO:equivalentObsolete MONDO:0008415 OMIM:181515 MONDO:equivalentObsolete -MONDO:0009489 OMIM:244850 MONDO:equivalentObsolete MONDO:0009535 OMIM:247440 MONDO:equivalentObsolete MONDO:0009654 OMIM:252700 MONDO:equivalentObsolete MONDO:0010045 OMIM:270710 MONDO:equivalentObsolete @@ -28,7 +27,6 @@ MONDO:0010804 OMIM:600048 MONDO:equivalentObsolete MONDO:0010859 OMIM:600309 MONDO:equivalentObsolete MONDO:0011111 OMIM:601563 MONDO:equivalentObsolete MONDO:0011543 OMIM:605365 MONDO:equivalentObsolete -MONDO:0011893 OMIM:607683 MONDO:equivalentObsolete MONDO:0011910 OMIM:607801 MONDO:equivalentObsolete MONDO:0012461 OMIM:610269 MONDO:equivalentObsolete MONDO:0012560 OMIM:610799 MONDO:equivalentObsolete diff --git a/src/ontology/reports/omim_mapping_status.tsv b/src/ontology/reports/omim_mapping_status.tsv index dafb65fb2..aa7db8f50 100644 --- a/src/ontology/reports/omim_mapping_status.tsv +++ b/src/ontology/reports/omim_mapping_status.tsv @@ -1,5 +1,10 @@ subject_id subject_label is_mapped is_excluded is_deprecated +OMIM:620888 neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1 False False False OMIM:620910 otofacial neurodevelopmental syndrome False False False +OMIM:620911 spastic paraplegia 92, autosomal recessive False False False +OMIM:620917 spermatogenic failure 95 False False False +OMIM:620923 parkinson disease 26, autosomal dominant, susceptibility to False False False +OMIM:620926 immunodeficiency 125 False False False OMIM:100500 False False True OMIM:100680 False False True OMIM:100735 False False True @@ -478,6 +483,7 @@ OMIM:242870 False False True OMIM:243095 False False True OMIM:243340 False False True OMIM:244500 False False True +OMIM:244850 False False True OMIM:245130 False False True OMIM:245210 False False True OMIM:245500 removed from database False False True @@ -1188,6 +1194,7 @@ OMIM:607595 False False True OMIM:607636 False False True OMIM:607655 False False True OMIM:607661 False False True +OMIM:607683 False False True OMIM:607689 False False True OMIM:607692 False False True OMIM:607739 False False True @@ -3516,7 +3523,7 @@ OMIM:187310 temperature sensitivity complementation, cell cycle specific, k12 Fa OMIM:187320 temperature sensitivity complementation, cell cycle specific, ts13 False True False OMIM:187330 temperature sensitivity complementation, cell cycle specific, ts546 False True False OMIM:187380 TNC False True False -OMIM:187395 TDGF1 False True False +OMIM:187395 CRIPTO False True False OMIM:187410 DNTT False True False OMIM:187430 CRISP2 False True False OMIM:187520 CLEC3B False True False @@ -4506,6 +4513,9 @@ OMIM:301112 GLOD5 False True False OMIM:301113 SPIN4 False True False OMIM:301117 CXORF38 False True False OMIM:301121 MAP7D2 False True False +OMIM:301122 ZCCHC18 False True False +OMIM:301123 TEX13C False True False +OMIM:301124 TEX13D False True False OMIM:301300 ALAS2 False True False OMIM:301770 ARR3 False True False OMIM:301780 ARSC2 False True False @@ -9991,8 +10001,8 @@ OMIM:606639 GFM1 False True False OMIM:606641 body mass index quantitative trait locus 1 False True False OMIM:606643 body mass index quantitative trait locus 2 False True False OMIM:606644 IGSF8 False True False -OMIM:606645 CENTD1 False True False -OMIM:606646 CENTD2 False True False +OMIM:606645 ARAP2 False True False +OMIM:606646 ARAP1 False True False OMIM:606647 CENTD3 False True False OMIM:606648 IL22RA2 False True False OMIM:606649 HIVEP3 False True False @@ -11147,7 +11157,7 @@ OMIM:608113 SGCZ False True False OMIM:608114 CENTA1 False True False OMIM:608116 HHATL False True False OMIM:608117 PDE4DIP False True False -OMIM:608119 homeodomain leucine zipper-containing factor False True False +OMIM:608119 HOMEZ False True False OMIM:608120 PARVA False True False OMIM:608121 PARVB False True False OMIM:608122 PARVG False True False @@ -11241,7 +11251,7 @@ OMIM:608234 GAL3ST3 False True False OMIM:608235 GAL3ST4 False True False OMIM:608237 GAL3ST2 False True False OMIM:608238 SPPL2A False True False -OMIM:608239 signal peptide peptidase-like 2b False True False +OMIM:608239 SPPL2B False True False OMIM:608240 SPPL3 False True False OMIM:608241 SNIP1 False True False OMIM:608242 HERC5 False True False @@ -11421,7 +11431,7 @@ OMIM:608464 AGGF1 False True False OMIM:608465 SETX False True False OMIM:608466 AHSA1 False True False OMIM:608467 STON2 False True False -OMIM:608468 CCRN4L False True False +OMIM:608468 NOCT False True False OMIM:608469 DDX17 False True False OMIM:608472 ST6GAL2 False True False OMIM:608473 ANAPC1 False True False @@ -11483,7 +11493,7 @@ OMIM:608536 GTPBP3 False True False OMIM:608537 VHL False True False OMIM:608538 ARID5B False True False OMIM:608539 GLIS2 False True False -OMIM:608541 rho gtpase involved 1n beta-catenin, n-cadherin, and nmda receptor signaling False True False +OMIM:608541 ARHGAP32 False True False OMIM:608544 HDAC10 False True False OMIM:608546 EIF4A3 False True False OMIM:608547 VKORC1 False True False @@ -13253,10 +13263,10 @@ OMIM:610870 LRRTM4 False True False OMIM:610872 IBRDC3 False True False OMIM:610873 menarche, age at, quantitative trait locus 1 False True False OMIM:610874 SPATC1 False True False -OMIM:610875 SAPS1 False True False +OMIM:610875 PPP6R1 False True False OMIM:610876 HACE1 False True False -OMIM:610877 SAPS2 False True False -OMIM:610879 SAPS3 False True False +OMIM:610877 PPP6R2 False True False +OMIM:610879 PPP6R3 False True False OMIM:610880 C11ORF24 False True False OMIM:610881 KMT5B False True False OMIM:610882 SSNA1 False True False @@ -15505,7 +15515,7 @@ OMIM:614244 PDXDC1 False True False OMIM:614245 ACSF3 False True False OMIM:614246 NAA60 False True False OMIM:614247 MIR519D False True False -OMIM:614248 pseudopodium-enriched atypical kinase 1 False True False +OMIM:614248 PEAK1 False True False OMIM:614258 POLR3A False True False OMIM:614259 CFAP57 False True False OMIM:614260 C9ORF72 False True False @@ -18349,7 +18359,7 @@ OMIM:619670 ALKAL1 False True False OMIM:619671 ALKAL2 False True False OMIM:619674 PRADC1 False True False OMIM:619675 UBOX5 False True False -OMIM:619676 TEX37 False True False +OMIM:619676 SPMIP9 False True False OMIM:619677 CLDND1 False True False OMIM:619678 C22ORF23 False True False OMIM:619679 TSACC False True False @@ -19015,6 +19025,26 @@ OMIM:620906 MBLAC1 False True False OMIM:620907 MBLAC2 False True False OMIM:620909 KLC4 False True False OMIM:620912 MICALL2 False True False +OMIM:620913 NAT9 False True False +OMIM:620914 MB21D2 False True False +OMIM:620915 MYO15B False True False +OMIM:620916 ZSCAN5A False True False +OMIM:620918 ZSCAN5B False True False +OMIM:620919 MANEAL False True False +OMIM:620920 KRBA2 False True False +OMIM:620921 ZNF512 False True False +OMIM:620922 LRRIQ1 False True False +OMIM:620924 NLE1 False True False +OMIM:620925 LRRC31 False True False +OMIM:620927 LRRC46 False True False +OMIM:620928 JMJD4 False True False +OMIM:620929 MOB3A False True False +OMIM:620930 MROH2B False True False +OMIM:620932 ZSCAN29 False True False +OMIM:620933 PNMA8A False True False +OMIM:620934 PNMA8C False True False +OMIM:620935 TEX9 False True False +OMIM:620936 WDR27 False True False OMIMPS:151623 Li-Fraumeni syndrome False True False OMIM:616915 removed from database False True True OMIM:100070 aortic aneurysm, familial abdominal, 1 True False False @@ -21619,7 +21649,7 @@ OMIM:600257 chromosome 8q12.1-q21.2 deletion syndrome True False False OMIM:600263 helicobacter pylori infection, susceptibility to True False False OMIM:600268 oculoectodermal syndrome True False False OMIM:600273 polycystic kidney disease, infantile severe, with tuberous sclerosis True False False -OMIM:600274 frontotemporal dementia True False False +OMIM:600274 frontotemporal dementia 1 True False False OMIM:600316 deafness, autosomal recessive 3 True False False OMIM:600318 type 1 diabetes mellitus 3 True False False OMIM:600319 type 1 diabetes mellitus 4 True False False @@ -22373,7 +22403,7 @@ OMIM:607475 bothnia retinal dystrophy True False False OMIM:607476 newfoundland rod-cone dystrophy True False False OMIM:607482 cardiomyopathy, dilated, 1m True False False OMIM:607483 basal ganglia disease, biotin-thiamine responsive True False False -OMIM:607485 frontotemporal lobar degeneration with tdp43 inclusions, grn-related True False False +OMIM:607485 frontotemporal dementia 2 True False False OMIM:607487 cardiomyopathy, familial hypertrophic, 25 True False False OMIM:607488 dystonia 15, myoclonic True False False OMIM:607498 migraine with or without aura, susceptibility to, 3 True False False @@ -22655,7 +22685,7 @@ OMIM:608935 lung cancer susceptibility 1 True False False OMIM:608940 spondylometaphyseal dysplasia with cone-rod dystrophy True False False OMIM:608957 immunodeficiency 116 True False False OMIM:608970 macular dystrophy, patterned, 2 True False False -OMIM:608971 immunodeficiency 104 True False False +OMIM:608971 immunodeficiency 104, severe combined True False False OMIM:608978 meacham syndrome True False False OMIM:608980 bifid nose with or without anorectal and renal anomalies True False False OMIM:608984 ataxia, sensory, 1, autosomal dominant True False False @@ -23103,7 +23133,7 @@ OMIM:611274 glaucoma 1, open angle, n True False False OMIM:611276 glaucoma 1, open angle, h True False False OMIM:611283 isobutyryl-coa dehydrogenase deficiency True False False OMIM:611284 dystonia, focal, task-specific True False False -OMIM:611291 immunodeficiency 124 True False False +OMIM:611291 immunodeficiency 124, severe combined True False False OMIM:611302 spastic ataxia 2, autosomal recessive True False False OMIM:611307 muscular dystrophy, limb-girdle, autosomal recessive 12 True False False OMIM:611308 persistent hyperplastic primary vitreous, autosomal dominant True False False @@ -24692,7 +24722,7 @@ OMIM:615607 immunodeficiency 17 True False False OMIM:615612 developmental dysplasia of the hip 2 True False False OMIM:615615 immunodeficiency 18 True False False OMIM:615616 arrhythmogenic right ventricular dysplasia, familial, 13 True False False -OMIM:615617 immunodeficiency 19 True False False +OMIM:615617 immunodeficiency 19, severe combined True False False OMIM:615625 spastic paraplegia 72a, autosomal dominant True False False OMIM:615629 deafness, autosomal dominant 56 True False False OMIM:615630 short-rib thoracic dysplasia 10 with or without polydactyly True False False @@ -24891,7 +24921,7 @@ OMIM:616056 developmental and epileptic encephalopathy 26 True False False OMIM:616059 mirror movements 3 True False False OMIM:616063 porokeratosis 8, disseminated superficial actinic type True False False OMIM:616067 46,xy sex reversal 9 True False False -OMIM:616069 inflammatory skin and bowel disease, neonatal, 2 True False False +OMIM:616069 neonatal nephrocutaneous inflammatory syndrome True False False OMIM:616078 intellectual developmental disorder, autosomal dominant 29 True False False OMIM:616079 retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities True False False OMIM:616080 microcephaly 12, primary, autosomal recessive True False False @@ -25389,7 +25419,7 @@ OMIM:617232 muscular dystrophy, limb-girdle, autosomal recessive 21 True False F OMIM:617234 oocyte/zygote/embryo maturation arrest 16 True False False OMIM:617235 myoclonus, intractable, neonatal True False False OMIM:617236 cone-rod dystrophy and hearing loss 1 True False False -OMIM:617237 immunodeficiency 49 True False False +OMIM:617237 immunodeficiency 49, severe combined True False False OMIM:617238 myopia 25, autosomal dominant True False False OMIM:617239 myasthenic syndrome, congenital, 21, presynaptic True False False OMIM:617241 lung disease, immunodeficiency, and chromosome breakage syndrome True False False @@ -25931,7 +25961,7 @@ OMIM:618374 developmental and epileptic encephalopathy 72 True False False OMIM:618378 combined oxidative phosphorylation deficiency 38 True False False OMIM:618379 developmental and epileptic encephalopathy 73 True False False OMIM:618381 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome True False False -OMIM:618383 intellectual developmental disorder, autosomal recessive 69 True False False +OMIM:618383 neurodevelopmental disorder with progressive movement abnormalities, cognitive decline, and brain abnormalities True False False OMIM:618384 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate True False False OMIM:618386 amelogenesis imperfecta, type 3c True False False OMIM:618387 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 True False False @@ -26748,7 +26778,7 @@ OMIM:619911 intellectual developmental disorder with language impairment and ear OMIM:619913 developmental and epileptic encephalopathy 103 True False False OMIM:619921 dystonia 35, childhood-onset True False False OMIM:619922 neurodevelopmental disorder with dystonia and seizures True False False -OMIM:619924 immunodeficiency 105 True False False +OMIM:619924 immunodeficiency 105, severe combined True False False OMIM:619927 intellectual developmental disorder, autosomal dominant 67 True False False OMIM:619931 intellectual developmental disorder, autosomal recessive 76 True False False OMIM:619934 intellectual developmental disorder, autosomal dominant 68 True False False @@ -27171,7 +27201,7 @@ OMIM:620840 premature ovarian failure 24 True False False OMIM:620848 spermatogenic failure 92 True False False OMIM:620849 spermatogenic failure 93 True False False OMIM:620850 spermatogenic failure 94 True False False -OMIM:620851 neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language True False False +OMIM:620851 renu syndrome True False False OMIM:620852 neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities True False False OMIM:620854 neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity True False False OMIM:620865 ehlers-danlos syndrome, classic-like, 3 True False False @@ -27726,7 +27756,7 @@ OMIMPS:613658 Rajab interstitial lung disease with brain calcifications True Fal OMIMPS:614039 Cortical dysplasia, complex, with other brain malformations True False False OMIMPS:614080 Multiple congenital anomalies-hypotonia-seizures syndrome True False False OMIMPS:614231 Microcephaly, epilepsy, and diabetes syndrome True False False -OMIMPS:614328 Neonatal inflammatory skin and bowel disease True False False +OMIMPS:614328 True False False OMIMPS:614372 Lectin complement activation pathway defects True False False OMIMPS:614388 Encephalopathy due to defective mitochondrial and peroxisomal fission True False False OMIMPS:614429 Ventricular septal defect True False False @@ -27782,7 +27812,6 @@ OMIM:164891 True False True OMIM:168850 True False True OMIM:175020 True False True OMIM:181515 True False True -OMIM:244850 True False True OMIM:247440 True False True OMIM:252700 True False True OMIM:270710 True False True @@ -27803,7 +27832,6 @@ OMIM:600309 True False True OMIM:601251 True False True OMIM:601563 True False True OMIM:605365 True False True -OMIM:607683 True False True OMIM:607801 True False True OMIM:610269 True False True OMIM:610799 True False True diff --git a/src/ontology/reports/omim_term_exclusions.txt b/src/ontology/reports/omim_term_exclusions.txt index 2b901a4fe..142a3e308 100644 --- a/src/ontology/reports/omim_term_exclusions.txt +++ b/src/ontology/reports/omim_term_exclusions.txt @@ -4369,6 +4369,9 @@ OMIM:301112 OMIM:301113 OMIM:301117 OMIM:301121 +OMIM:301122 +OMIM:301123 +OMIM:301124 OMIM:301300 OMIM:301410 OMIM:301700 @@ -19303,4 +19306,24 @@ OMIM:620906 OMIM:620907 OMIM:620909 OMIM:620912 +OMIM:620913 +OMIM:620914 +OMIM:620915 +OMIM:620916 +OMIM:620918 +OMIM:620919 +OMIM:620920 +OMIM:620921 +OMIM:620922 +OMIM:620924 +OMIM:620925 +OMIM:620927 +OMIM:620928 +OMIM:620929 +OMIM:620930 +OMIM:620932 +OMIM:620933 +OMIM:620934 +OMIM:620935 +OMIM:620936 OMIMPS:151623 diff --git a/src/ontology/reports/omim_unmapped_terms.tsv b/src/ontology/reports/omim_unmapped_terms.tsv index 50da917e7..1bb40a2bb 100644 --- a/src/ontology/reports/omim_unmapped_terms.tsv +++ b/src/ontology/reports/omim_unmapped_terms.tsv @@ -1,2 +1,7 @@ subject_id subject_label +OMIM:620926 immunodeficiency 125 +OMIM:620888 neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1 OMIM:620910 otofacial neurodevelopmental syndrome +OMIM:620923 parkinson disease 26, autosomal dominant, susceptibility to +OMIM:620911 spastic paraplegia 92, autosomal recessive +OMIM:620917 spermatogenic failure 95 diff --git a/src/ontology/reports/ordo.subclass.added-obsolete.robot.tsv b/src/ontology/reports/ordo.subclass.added-obsolete.robot.tsv index 3b3ac1b2b..a64169307 100644 --- a/src/ontology/reports/ordo.subclass.added-obsolete.robot.tsv +++ b/src/ontology/reports/ordo.subclass.added-obsolete.robot.tsv @@ -284,6 +284,7 @@ MONDO:0005854 mixed connective tissue disease MONDO:0015928 Orphanet:809 Orphane MONDO:0005854 mixed connective tissue disease MONDO:0016177 Orphanet:809 Orphanet:209007 obsolete systemic inflammatory disease associated with an acquired peripheral neuropathy MONDO:0005888 ornithosis MONDO:0015575 Orphanet:660053 Orphanet:163582 obsolete rare bacterial infectious disease MONDO:0005894 paracoccidioidomycosis MONDO:0015578 Orphanet:73260 Orphanet:163591 obsolete rare mycosis +MONDO:0005916 placenta accreta MONDO:0015582 Orphanet:662721 Orphanet:163637 obsolete rare disorder related with pregnancy, childbirth and puerperium MONDO:0005919 placental insufficiency MONDO:0015582 Orphanet:439167 Orphanet:163637 obsolete rare disorder related with pregnancy, childbirth and puerperium MONDO:0005919 placental insufficiency MONDO:0032013 Orphanet:439167 Orphanet:377792 obsolete clinical syndrome MONDO:0005933 pulmonary blastoma MONDO:0015119 Orphanet:64741 Orphanet:101945 obsolete bronchopulmonary tumor @@ -757,7 +758,6 @@ MONDO:0007489 dysplasia epiphysealis hemimelica MONDO:0800089 Orphanet:1822 Orph MONDO:0007489 dysplasia epiphysealis hemimelica MONDO:8000032 Orphanet:1822 Orphanet:377789 obsolete malformation syndrome MONDO:0007490 carpotarsal osteochondromatosis MONDO:0800089 Orphanet:2767 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components MONDO:0007490 carpotarsal osteochondromatosis MONDO:8000032 Orphanet:2767 Orphanet:377789 obsolete malformation syndrome -MONDO:0007495 dystonia 5 MONDO:0035862 Orphanet:98808 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome MONDO:0007496 dystonia 12 MONDO:0017660 Orphanet:71517 Orphanet:307052 obsolete rare genetic parkinsonian disorder MONDO:0007496 dystonia 12 MONDO:0018329 Orphanet:71517 Orphanet:391711 obsolete persistent combined dystonia MONDO:0007496 dystonia 12 MONDO:0019059 Orphanet:71517 Orphanet:68402 obsolete rare parkinsonian disorder @@ -3852,6 +3852,8 @@ MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndro MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome MONDO:8000032 Orphanet:3041 Orphanet:377789 obsolete malformation syndrome MONDO:0010507 Xq25 microduplication syndrome MONDO:0035863 Orphanet:521258 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0010507 Xq25 microduplication syndrome MONDO:8000032 Orphanet:521258 Orphanet:377789 obsolete malformation syndrome +MONDO:0010512 intellectual disability, X-linked, syndromic, Bain type MONDO:0035863 Orphanet:662198 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010512 intellectual disability, X-linked, syndromic, Bain type MONDO:8000032 Orphanet:662198 Orphanet:377789 obsolete malformation syndrome MONDO:0010518 Wiskott-Aldrich syndrome MONDO:0015945 Orphanet:906 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer MONDO:0010518 Wiskott-Aldrich syndrome MONDO:0018035 Orphanet:906 Orphanet:331217 obsolete syndrome with combined immunodeficiency MONDO:0010518 Wiskott-Aldrich syndrome MONDO:0019305 Orphanet:906 Orphanet:79391 obsolete immune deficiency with skin involvement @@ -5574,6 +5576,9 @@ MONDO:0013252 Warsaw breakage syndrome MONDO:0015945 Orphanet:280558 Orphanet:18 MONDO:0013252 Warsaw breakage syndrome MONDO:0043008 Orphanet:280558 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0013252 Warsaw breakage syndrome MONDO:8000032 Orphanet:280558 Orphanet:377789 obsolete malformation syndrome MONDO:0013256 chromosome 15q24 deletion syndrome MONDO:8000031 Orphanet:94065 Orphanet:557494 obsolete subtype of a disorder +MONDO:0013266 intellectual disability, autosomal dominant 20 MONDO:0017120 Orphanet:664410 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature +MONDO:0013266 intellectual disability, autosomal dominant 20 MONDO:0035863 Orphanet:664410 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0013266 intellectual disability, autosomal dominant 20 MONDO:8000032 Orphanet:664410 Orphanet:377789 obsolete malformation syndrome MONDO:0013267 distal 16p11.2 microdeletion syndrome MONDO:0016565 Orphanet:261222 Orphanet:240371 obsolete syndromic genetic obesity MONDO:0013267 distal 16p11.2 microdeletion syndrome MONDO:8000032 Orphanet:261222 Orphanet:377789 obsolete malformation syndrome MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly MONDO:0020253 Orphanet:228390 Orphanet:98683 obsolete syndrome with a symptomatic strabismus @@ -5972,6 +5977,7 @@ MONDO:0014118 congenital neutropenia-myelofibrosis-nephromegaly syndrome MONDO:0 MONDO:0014119 intellectual disability-strabismus syndrome MONDO:0020253 Orphanet:363528 Orphanet:98683 obsolete syndrome with a symptomatic strabismus MONDO:0014119 intellectual disability-strabismus syndrome MONDO:0035863 Orphanet:363528 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014121 autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures MONDO:8000031 Orphanet:363454 Orphanet:557494 obsolete subtype of a disorder +MONDO:0014128 TCF12-related craniosynostosis MONDO:8000032 Orphanet:672979 Orphanet:377789 obsolete malformation syndrome MONDO:0014131 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome MONDO:0017671 Orphanet:363523 Orphanet:307804 obsolete autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature MONDO:0014131 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome MONDO:0020014 Orphanet:363523 Orphanet:98027 obsolete rare disease with odontological manifestation MONDO:0014131 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome MONDO:0035862 Orphanet:363523 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome @@ -6110,6 +6116,10 @@ MONDO:0014349 pontocerebellar hypoplasia type 10 MONDO:0035863 Orphanet:411493 O MONDO:0014349 pontocerebellar hypoplasia type 10 MONDO:8000032 Orphanet:411493 Orphanet:377789 obsolete malformation syndrome MONDO:0014351 pontocerebellar hypoplasia type 9 MONDO:8000032 Orphanet:369920 Orphanet:377789 obsolete malformation syndrome MONDO:0014353 immunodeficiency 23 MONDO:0035862 Orphanet:443811 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0014355 cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis MONDO:0016337 Orphanet:476096 Orphanet:217619 obsolete syndrome associated with dilated cardiomyopathy +MONDO:0014355 cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis MONDO:0019183 Orphanet:476096 Orphanet:77830 obsolete inherited odontologic disease +MONDO:0014355 cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis MONDO:0020014 Orphanet:476096 Orphanet:98027 obsolete rare disease with odontological manifestation +MONDO:0014355 cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis MONDO:0026150 Orphanet:476096 Orphanet:183438 obsolete genetic erythrokeratoderma MONDO:0014358 AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome MONDO:0035862 Orphanet:412069 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome MONDO:0014358 AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome MONDO:8000032 Orphanet:412069 Orphanet:377789 obsolete malformation syndrome MONDO:0014361 autism spectrum disorder due to AUTS2 deficiency MONDO:0015878 Orphanet:352490 Orphanet:180772 obsolete rare disease with autism @@ -6283,6 +6293,7 @@ MONDO:0014568 hereditary spastic paraplegia 73 MONDO:0015088 Orphanet:444099 Orp MONDO:0014572 Lichtenstein-Knorr syndrome MONDO:0019589 Orphanet:448251 Orphanet:90642 obsolete syndromic genetic hearing loss MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome MONDO:0016518 Orphanet:444138 Orphanet:2338 obsolete isolated punctate palmoplantar keratoderma MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome MONDO:0017262 Orphanet:444138 Orphanet:281082 obsolete inherited non-syndromic ichthyosis +MONDO:0014597 immunodeficiency 39 MONDO:0018545 Orphanet:574918 Orphanet:431156 obsolete primary immunodeficiency with predisposition to severe viral infection MONDO:0014601 autosomal recessive spinocerebellar ataxia 20 MONDO:0017118 Orphanet:397709 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature MONDO:0014601 autosomal recessive spinocerebellar ataxia 20 MONDO:0035863 Orphanet:397709 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014601 autosomal recessive spinocerebellar ataxia 20 MONDO:8000032 Orphanet:397709 Orphanet:377789 obsolete malformation syndrome @@ -6332,6 +6343,7 @@ MONDO:0014702 autosomal recessive complex spastic paraplegia type 9B MONDO:00150 MONDO:0014702 autosomal recessive complex spastic paraplegia type 9B MONDO:0035862 Orphanet:447760 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome MONDO:0014704 skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome MONDO:0800091 Orphanet:477831 Orphanet:498448 obsolete overgrowth or tall stature syndrome with skeletal involvement MONDO:0014704 skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome MONDO:8000032 Orphanet:477831 Orphanet:377789 obsolete malformation syndrome +MONDO:0014705 craniosynostosis 6 MONDO:8000032 Orphanet:672985 Orphanet:377789 obsolete malformation syndrome MONDO:0014708 ring chromosome 14 MONDO:0015652 Orphanet:1440 Orphanet:166469 obsolete chromosomal anomaly with epilepsy as a major feature MONDO:0014708 ring chromosome 14 MONDO:0018186 Orphanet:1440 Orphanet:363203 obsolete ring chromosome MONDO:0014708 ring chromosome 14 MONDO:8000032 Orphanet:1440 Orphanet:377789 obsolete malformation syndrome @@ -6488,6 +6500,10 @@ MONDO:0014944 short stature-brachydactyly-obesity-global developmental delay syn MONDO:0014944 short stature-brachydactyly-obesity-global developmental delay syndrome MONDO:0035863 Orphanet:464288 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014944 short stature-brachydactyly-obesity-global developmental delay syndrome MONDO:8000032 Orphanet:464288 Orphanet:377789 obsolete malformation syndrome MONDO:0014946 Sifrim-Hitz-Weiss syndrome MONDO:0035863 Orphanet:653712 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014948 short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay MONDO:0015329 Orphanet:659702 Orphanet:139021 obsolete malformation syndrome with short stature +MONDO:0014948 short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay MONDO:0026187 Orphanet:659702 Orphanet:183570 obsolete genetic malformation syndrome with short stature +MONDO:0014948 short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay MONDO:0035863 Orphanet:659702 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014948 short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay MONDO:8000032 Orphanet:659702 Orphanet:377789 obsolete malformation syndrome MONDO:0014952 intellectual disability-epilepsy-extrapyramidal syndrome MONDO:0035862 Orphanet:468620 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome MONDO:0014953 gnb5-related intellectual disability-cardiac arrhythmia syndrome MONDO:0015110 Orphanet:542306 Orphanet:101934 obsolete genetic cardiac rhythm disease MONDO:0014953 gnb5-related intellectual disability-cardiac arrhythmia syndrome MONDO:0035862 Orphanet:542306 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome @@ -10227,8 +10243,8 @@ MONDO:0018601 autosomal dominant myopia-midfacial retrusion-sensorineural hearin MONDO:0018601 autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome MONDO:0800087 Orphanet:440354 Orphanet:93422 obsolete type 11 collagen-related bone disorder MONDO:0018601 autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome MONDO:8000032 Orphanet:440354 Orphanet:377789 obsolete malformation syndrome MONDO:0018602 necrotizing soft tissue infection MONDO:0015575 Orphanet:440368 Orphanet:163582 obsolete rare bacterial infectious disease -MONDO:0018603 interstitial lung disease due to SP-C deficiency MONDO:0017032 Orphanet:440392 Orphanet:264930 obsolete primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder -MONDO:0018603 interstitial lung disease due to SP-C deficiency MONDO:0028569 Orphanet:440392 Orphanet:264992 obsolete genetic interstitial lung disease +MONDO:0018603 SFTPC- related interstitial lung disease MONDO:0017032 Orphanet:440392 Orphanet:264930 obsolete primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder +MONDO:0018603 SFTPC- related interstitial lung disease MONDO:0028569 Orphanet:440392 Orphanet:264992 obsolete genetic interstitial lung disease MONDO:0018607 combined hamartoma of the retina and retinal pigment epithelium MONDO:0015121 Orphanet:440727 Orphanet:101950 obsolete rare eye tumor MONDO:0018608 pure autonomic failure MONDO:0018497 Orphanet:441 Orphanet:423662 obsolete rare autonomic nervous system disorder MONDO:0018609 obsolete syndromic hereditary optic neuropathy MONDO:0020249 Orphanet:441434 Orphanet:98671 hereditary optic neuropathy @@ -10429,10 +10445,6 @@ MONDO:0018771 obsolete congenital anomaly of ventricular septum MONDO:0019512 Or MONDO:0018772 Joubert syndrome MONDO:0020130 Orphanet:475 Orphanet:98514 obsolete malformation of the cerebellar vermis MONDO:0018772 Joubert syndrome MONDO:0035863 Orphanet:475 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0018772 Joubert syndrome MONDO:8000032 Orphanet:475 Orphanet:377789 obsolete malformation syndrome -MONDO:0018774 erythrokeratodermia-cardiomyopathy syndrome MONDO:0016337 Orphanet:476096 Orphanet:217619 obsolete syndrome associated with dilated cardiomyopathy -MONDO:0018774 erythrokeratodermia-cardiomyopathy syndrome MONDO:0019183 Orphanet:476096 Orphanet:77830 obsolete inherited odontologic disease -MONDO:0018774 erythrokeratodermia-cardiomyopathy syndrome MONDO:0020014 Orphanet:476096 Orphanet:98027 obsolete rare disease with odontological manifestation -MONDO:0018774 erythrokeratodermia-cardiomyopathy syndrome MONDO:0026150 Orphanet:476096 Orphanet:183438 obsolete genetic erythrokeratoderma MONDO:0018775 obsolete axonal hereditary motor and sensory neuropathy MONDO:0015626 Orphanet:476109 Orphanet:166 Charcot-Marie-Tooth disease MONDO:0018777 autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome MONDO:0017434 Orphanet:476119 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy MONDO:0018777 autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome MONDO:8000032 Orphanet:476119 Orphanet:377789 obsolete malformation syndrome @@ -12316,9 +12328,6 @@ MONDO:0022851 Dennis-Fairhurst-Moore syndrome MONDO:0026187 Orphanet:2109 Orphan MONDO:0022851 Dennis-Fairhurst-Moore syndrome MONDO:0035863 Orphanet:2109 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0022851 Dennis-Fairhurst-Moore syndrome MONDO:8000032 Orphanet:2109 Orphanet:377789 obsolete malformation syndrome MONDO:0022986 diffuse idiopathic pulmonary neuroendocrine cell hyperplasia MONDO:0015119 Orphanet:617916 Orphanet:101945 obsolete bronchopulmonary tumor -MONDO:0023122 familial prostate carcinoma MONDO:0015511 Orphanet:1331 Orphanet:156619 obsolete rare genetic urogenital disease -MONDO:0023122 familial prostate carcinoma MONDO:0017130 Orphanet:1331 Orphanet:271844 obsolete genetic urogenital tumor -MONDO:0023122 familial prostate carcinoma MONDO:0020032 Orphanet:1331 Orphanet:98058 obsolete rare urinary tract tumor MONDO:0023171 foix chavany Marie syndrome MONDO:8000032 Orphanet:2048 Orphanet:377789 obsolete malformation syndrome MONDO:0023201 Fryns Smeets Thiry syndrome MONDO:0035863 Orphanet:2058 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0023201 Fryns Smeets Thiry syndrome MONDO:8000032 Orphanet:2058 Orphanet:377789 obsolete malformation syndrome @@ -12337,6 +12346,7 @@ MONDO:0024252 global developmental delay-neuro-ophthalmological abnormalities-se MONDO:0024252 global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome MONDO:0035862 Orphanet:488613 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome MONDO:0024252 global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome MONDO:8000032 Orphanet:488613 Orphanet:377789 obsolete malformation syndrome MONDO:0024257 hereditary motor neuron disease MONDO:0026167 Orphanet:98505 Orphanet:183497 obsolete genetic neuromuscular disease +MONDO:0024326 pleural adenomatoid tumor MONDO:0015119 Orphanet:675814 Orphanet:101945 obsolete bronchopulmonary tumor MONDO:0024336 vulvar adenocarcinoma MONDO:8000031 Orphanet:494454 Orphanet:557494 obsolete subtype of a disorder MONDO:0024471 obsolete non-inflammatory vasculopathy MONDO:0019048 Orphanet:496924 Orphanet:68362 obsolete rare vascular disease MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 MONDO:8000031 Orphanet:572543 Orphanet:557494 obsolete subtype of a disorder @@ -12348,8 +12358,13 @@ MONDO:0024557 ataxia-telangiectasia-like disorder 1 MONDO:0035862 Orphanet:25134 MONDO:0024559 aortic aneurysm, familial thoracic 1 MONDO:0017311 Orphanet:229 Orphanet:285014 obsolete rare disease with thoracic aortic aneurysm and aortic dissection MONDO:0024568 infantile liver failure syndrome 1 MONDO:0015114 Orphanet:370088 Orphanet:101939 obsolete rare parenchymal liver disease MONDO:0024568 infantile liver failure syndrome 1 MONDO:0015508 Orphanet:370088 Orphanet:156604 obsolete hereditary parenchymatous liver disease +MONDO:0024607 congenital muscular dystrophy with cataracts and intellectual disability MONDO:0020225 Orphanet:662184 Orphanet:98641 obsolete syndromic cataract +MONDO:0024607 congenital muscular dystrophy with cataracts and intellectual disability MONDO:0035862 Orphanet:662184 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome MONDO:0024609 vulvar squamous cell carcinoma MONDO:8000031 Orphanet:494448 Orphanet:557494 obsolete subtype of a disorder MONDO:0024686 tenosynovial giant cell tumor, diffuse type MONDO:0015940 Orphanet:66627 Orphanet:182231 obsolete rare rheumatologic disease +MONDO:0024770 autoinflammatory syndrome, familial, X-linked, Behcet-like 2 MONDO:0017957 Orphanet:676125 Orphanet:324936 obsolete unclassified autoinflammatory syndrome +MONDO:0024770 autoinflammatory syndrome, familial, X-linked, Behcet-like 2 MONDO:0033967 Orphanet:676125 Orphanet:529974 obsolete immune dysregulation with inflammatory bowel disease +MONDO:0024777 immunodeficiency 98 with autoinflammation, X-linked MONDO:0018032 Orphanet:675628 Orphanet:331184 obsolete constitutional neutropenia with extra-hematopoietic manifestations MONDO:0024987 obsolete genetic urogenital tract malformation MONDO:0015511 Orphanet:156622 Orphanet:156619 obsolete rare genetic urogenital disease MONDO:0025193 oculopharyngodistal myopathy MONDO:0016109 Orphanet:98897 Orphanet:206653 obsolete autosomal recessive distal myopathy MONDO:0025193 oculopharyngodistal myopathy MONDO:0020169 Orphanet:98897 Orphanet:98578 obsolete rare disorder with ptosis @@ -12427,6 +12442,8 @@ MONDO:0030258 pontocerebellar hypoplasia, type 14 MONDO:0035863 Orphanet:613274 MONDO:0030258 pontocerebellar hypoplasia, type 14 MONDO:8000032 Orphanet:613274 Orphanet:377789 obsolete malformation syndrome MONDO:0030482 spastic paraplegia 84, autosomal recessive MONDO:0015089 Orphanet:631079 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia MONDO:0030512 spastic paraplegia 85, autosomal recessive MONDO:0015089 Orphanet:631082 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia +MONDO:0030524 mucopolysaccharidosis, type 10 MONDO:0019058 Orphanet:662216 Orphanet:68385 obsolete neurometabolic disease +MONDO:0030524 mucopolysaccharidosis, type 10 MONDO:0035862 Orphanet:662216 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome MONDO:0030673 spastic paraplegia 86, autosomal recessive MONDO:0015089 Orphanet:631085 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia MONDO:0030767 obsolete genetic tumor of hematopoietic and lymphoid tissues MONDO:0019041 Orphanet:322126 Orphanet:68336 obsolete rare genetic inherited tumor MONDO:0030880 mandibuloacral dysplasia progeroid syndrome MONDO:0031689 Orphanet:647667 Orphanet:363245 obsolete genetic progeroid syndrome @@ -12516,9 +12533,13 @@ MONDO:0032726 combined oxidative phosphorylation deficiency 39 MONDO:0019058 Orp MONDO:0032726 combined oxidative phosphorylation deficiency 39 MONDO:0035862 Orphanet:565624 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome MONDO:0032737 spastic paraplegia 80, autosomal dominant MONDO:0015088 Orphanet:631068 Orphanet:100980 obsolete autosomal dominant pure spastic paraplegia MONDO:0032814 microangiopathy and leukoencephalopathy, pontine, autosomal dominant MONDO:0018789 Orphanet:477749 Orphanet:477762 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency +MONDO:0032820 neurodevelopmental disorder with structural brain anomalies and dysmorphic facies MONDO:0017120 Orphanet:659609 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature +MONDO:0032820 neurodevelopmental disorder with structural brain anomalies and dysmorphic facies MONDO:0035863 Orphanet:659609 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0032830 snijders blok-fisher syndrome MONDO:0035863 Orphanet:656135 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0032831 pontocerebellar hypoplasia, type 13 MONDO:0035863 Orphanet:613267 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0032831 pontocerebellar hypoplasia, type 13 MONDO:8000032 Orphanet:613267 Orphanet:377789 obsolete malformation syndrome +MONDO:0032838 neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies MONDO:0017119 Orphanet:664923 Orphanet:269528 obsolete syndrome with microcephaly as major feature +MONDO:0032838 neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies MONDO:0035863 Orphanet:664923 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0032882 Heyn-Sproul-Jackson syndrome MONDO:0017950 Orphanet:658595 Orphanet:324761 obsolete microcephalic primordial dwarfism MONDO:0032882 Heyn-Sproul-Jackson syndrome MONDO:8000032 Orphanet:658595 Orphanet:377789 obsolete malformation syndrome MONDO:0032886 Liang-Wang syndrome MONDO:0015336 Orphanet:664438 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component @@ -12526,6 +12547,8 @@ MONDO:0032886 Liang-Wang syndrome MONDO:0015506 Orphanet:664438 Orphanet:156532 MONDO:0032886 Liang-Wang syndrome MONDO:0026190 Orphanet:664438 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component MONDO:0032886 Liang-Wang syndrome MONDO:0035863 Orphanet:664438 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0032886 Liang-Wang syndrome MONDO:8000032 Orphanet:664438 Orphanet:377789 obsolete malformation syndrome +MONDO:0032899 neutropenia, severe congenital, 8, autosomal dominant MONDO:0018032 Orphanet:675767 Orphanet:331184 obsolete constitutional neutropenia with extra-hematopoietic manifestations +MONDO:0032899 neutropenia, severe congenital, 8, autosomal dominant MONDO:0035862 Orphanet:675767 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome MONDO:0032906 spastic paraplegia 82, autosomal recessive MONDO:0015089 Orphanet:631073 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia MONDO:0032916 Imagawa-Matsumoto syndrome MONDO:8000032 Orphanet:659463 Orphanet:377789 obsolete malformation syndrome MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal MONDO:0017118 Orphanet:615954 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature @@ -12534,6 +12557,12 @@ MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficien MONDO:0032933 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant MONDO:0016327 Orphanet:656279 Orphanet:217587 obsolete mitochondrial disease with hypertrophic cardiomyopathy MONDO:0032933 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant MONDO:0016803 Orphanet:656279 Orphanet:254837 obsolete unspecified inborn mitochondrial disorder MONDO:0032933 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant MONDO:0019058 Orphanet:656279 Orphanet:68385 obsolete neurometabolic disease +MONDO:0032942 neurodevelopmental disorder with microcephaly and dysmorphic facies MONDO:0017119 Orphanet:662179 Orphanet:269528 obsolete syndrome with microcephaly as major feature +MONDO:0032942 neurodevelopmental disorder with microcephaly and dysmorphic facies MONDO:0019589 Orphanet:662179 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0032942 neurodevelopmental disorder with microcephaly and dysmorphic facies MONDO:0035863 Orphanet:662179 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0032942 neurodevelopmental disorder with microcephaly and dysmorphic facies MONDO:8000032 Orphanet:662179 Orphanet:377789 obsolete malformation syndrome +MONDO:0032943 neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies MONDO:0035863 Orphanet:662175 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0032943 neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies MONDO:8000032 Orphanet:662175 Orphanet:377789 obsolete malformation syndrome MONDO:0033043 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy MONDO:0035862 Orphanet:527497 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome MONDO:0033056 obsolete genetic facial cleft MONDO:0015961 Orphanet:414726 Orphanet:183583 obsolete hereditary head and neck malformation MONDO:0033135 Charcot-Marie-Tooth disease, demyelinating, type 1G MONDO:0015359 Orphanet:476394 Orphanet:140453 obsolete autosomal dominant hereditary demyelinating motor and sensory neuropathy @@ -12835,7 +12864,6 @@ MONDO:0035541 obsolete split cord malformation type II MONDO:0035542 Orphanet:57 MONDO:0035541 obsolete split cord malformation type II MONDO:8000030 Orphanet:573253 Orphanet:377791 obsolete morphological anomaly MONDO:0035542 obsolete split cord malformation MONDO:0000859 Orphanet:573278 Orphanet:645202 spina bifida occulta MONDO:0035542 obsolete split cord malformation MONDO:0017085 Orphanet:573278 Orphanet:268843 obsolete malformation of the neurenteric canal, spinal cord and column -MONDO:0035547 predisposition to severe viral infection due to IRF7 deficiency MONDO:0018545 Orphanet:574918 Orphanet:431156 obsolete primary immunodeficiency with predisposition to severe viral infection MONDO:0035548 autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency MONDO:0017898 Orphanet:574957 Orphanet:319539 obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency MONDO:0035551 cathepsin a-related arteriopathy-strokes-leukoencephalopathy MONDO:0018787 Orphanet:575553 Orphanet:477754 obsolete genetic cerebral small vessel disease MONDO:0035551 cathepsin a-related arteriopathy-strokes-leukoencephalopathy MONDO:0020144 Orphanet:575553 Orphanet:98549 obsolete cerebrovascular dementia @@ -13202,6 +13230,7 @@ MONDO:0060707 Ververi-Brady syndrome MONDO:0026187 Orphanet:580940 Orphanet:1835 MONDO:0060707 Ververi-Brady syndrome MONDO:0035863 Orphanet:580940 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0060707 Ververi-Brady syndrome MONDO:8000032 Orphanet:580940 Orphanet:377789 obsolete malformation syndrome MONDO:0060759 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures MONDO:0018265 Orphanet:597623 Orphanet:370106 obsolete rare disorder with dystonia and other neurologic or systemic manifestation +MONDO:0060763 intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities MONDO:0035863 Orphanet:662829 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0100038 complex neurodevelopmental disorder MONDO:0015982 Orphanet:528084 Orphanet:183757 obsolete rare genetic intellectual disability MONDO:0100038 complex neurodevelopmental disorder MONDO:0019491 Orphanet:528084 Orphanet:87277 obsolete rare intellectual disability MONDO:0100062 developmental and epileptic encephalopathy MONDO:0015921 Orphanet:1934 Orphanet:182079 obsolete ARX-related epileptic encephalopathy @@ -13295,6 +13324,9 @@ MONDO:0100552 ATTRV30M amyloidosis MONDO:0016134 Orphanet:85447 Orphanet:207021 MONDO:0100552 ATTRV30M amyloidosis MONDO:8000031 Orphanet:85447 Orphanet:557494 obsolete subtype of a disorder MONDO:0700220 disease related to transplantation MONDO:0032014 Orphanet:306644 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome MONDO:0700220 disease related to transplantation MONDO:0035426 Orphanet:306644 Orphanet:565779 obsolete rare disorder potentially indicated for transplant or complication after transplantation +MONDO:0700275 prostate cancer, hereditary MONDO:0015511 Orphanet:1331 Orphanet:156619 obsolete rare genetic urogenital disease +MONDO:0700275 prostate cancer, hereditary MONDO:0017130 Orphanet:1331 Orphanet:271844 obsolete genetic urogenital tumor +MONDO:0700275 prostate cancer, hereditary MONDO:0020032 Orphanet:1331 Orphanet:98058 obsolete rare urinary tract tumor MONDO:0800025 Teebi hypertelorism syndrome 1 MONDO:0043008 Orphanet:1519 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0800025 Teebi hypertelorism syndrome 1 MONDO:8000032 Orphanet:1519 Orphanet:377789 obsolete malformation syndrome MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease MONDO:0015118 Orphanet:661 Orphanet:101944 obsolete rare pulmonary disease @@ -13312,6 +13344,9 @@ MONDO:0800044 congenital disorder of deglycosylation 1 MONDO:0019602 Orphanet:40 MONDO:0800044 congenital disorder of deglycosylation 1 MONDO:0020194 Orphanet:404454 Orphanet:98604 obsolete congenital alacrima MONDO:0800044 congenital disorder of deglycosylation 1 MONDO:0029102 Orphanet:404454 Orphanet:281244 obsolete autosomal ichthyosis syndrome with other associated signs MONDO:0800044 congenital disorder of deglycosylation 1 MONDO:0035862 Orphanet:404454 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0800045 autoinflammatory syndrome, familial, Behcet-like 1 MONDO:0017369 Orphanet:674762 Orphanet:290839 obsolete autoinflammatory syndrome with immune deficiency +MONDO:0800045 autoinflammatory syndrome, familial, Behcet-like 1 MONDO:0017370 Orphanet:674762 Orphanet:290842 obsolete autoinflammatory syndrome with skin involvement +MONDO:0800045 autoinflammatory syndrome, familial, Behcet-like 1 MONDO:0017957 Orphanet:674762 Orphanet:324936 obsolete unclassified autoinflammatory syndrome MONDO:0800046 thyroid hormone metabolism, abnormal 1 MONDO:0035689 Orphanet:171706 Orphanet:596426 obsolete syndrome of reduced sensitivity to thyroid hormone MONDO:0800084 obsolete primary bone dysplasia with increased bone density MONDO:0018230 Orphanet:93444 Orphanet:364526 skeletal dysplasia MONDO:0800085 obsolete dysostosis with predominant craniofacial involvement MONDO:0018234 Orphanet:93453 Orphanet:364559 dysostosis @@ -13440,14 +13475,25 @@ MONDO:0859147 Marbach-Rustad progeroid syndrome MONDO:0031689 Orphanet:659873 Or MONDO:0859147 Marbach-Rustad progeroid syndrome MONDO:0043008 Orphanet:659873 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0859147 Marbach-Rustad progeroid syndrome MONDO:8000032 Orphanet:659873 Orphanet:377789 obsolete malformation syndrome MONDO:0859200 cerebellar ataxia, brain abnormalities, and cardiac conduction defects MONDO:0035862 Orphanet:641361 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0859206 neurodevelopmental disorder with hearing loss and spasticity MONDO:0019589 Orphanet:659975 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0859206 neurodevelopmental disorder with hearing loss and spasticity MONDO:0035863 Orphanet:659975 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0859206 neurodevelopmental disorder with hearing loss and spasticity MONDO:8000032 Orphanet:659975 Orphanet:377789 obsolete malformation syndrome MONDO:0859219 Rauch-Steindl syndrome MONDO:0015329 Orphanet:659642 Orphanet:139021 obsolete malformation syndrome with short stature MONDO:0859219 Rauch-Steindl syndrome MONDO:0017119 Orphanet:659642 Orphanet:269528 obsolete syndrome with microcephaly as major feature MONDO:0859219 Rauch-Steindl syndrome MONDO:0026187 Orphanet:659642 Orphanet:183570 obsolete genetic malformation syndrome with short stature MONDO:0859219 Rauch-Steindl syndrome MONDO:0035863 Orphanet:659642 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0859219 Rauch-Steindl syndrome MONDO:8000031 Orphanet:659642 Orphanet:557494 obsolete subtype of a disorder +MONDO:0859257 intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism MONDO:0018265 Orphanet:660017 Orphanet:370106 obsolete rare disorder with dystonia and other neurologic or systemic manifestation +MONDO:0859257 intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism MONDO:0035862 Orphanet:660017 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0859297 neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities MONDO:0017120 Orphanet:662189 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature +MONDO:0859297 neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities MONDO:0035863 Orphanet:662189 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0859297 neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities MONDO:8000032 Orphanet:662189 Orphanet:377789 obsolete malformation syndrome MONDO:0859301 neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects MONDO:0017120 Orphanet:662207 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature MONDO:0859301 neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects MONDO:0035863 Orphanet:662207 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0859301 neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects MONDO:8000032 Orphanet:662207 Orphanet:377789 obsolete malformation syndrome +MONDO:0859324 developmental delay, language impairment, and ocular abnormalities MONDO:0017119 Orphanet:662762 Orphanet:269528 obsolete syndrome with microcephaly as major feature +MONDO:0859324 developmental delay, language impairment, and ocular abnormalities MONDO:0035863 Orphanet:662762 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0859324 developmental delay, language impairment, and ocular abnormalities MONDO:8000032 Orphanet:662762 Orphanet:377789 obsolete malformation syndrome MONDO:0859761 SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome MONDO:8000031 Orphanet:633021 Orphanet:557494 obsolete subtype of a disorder MONDO:0859762 SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome MONDO:8000031 Orphanet:633024 Orphanet:557494 obsolete subtype of a disorder MONDO:0957001 obsolete hereditary mixed dermis disorder MONDO:0026160 Orphanet:183481 Orphanet:183472 obsolete genetic dermis disorder @@ -13536,6 +13582,8 @@ MONDO:0958269 isolated left bronchial isomerism MONDO:8000030 Orphanet:649029 Or MONDO:0958273 cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation MONDO:8000031 Orphanet:652514 Orphanet:557494 obsolete subtype of a disorder MONDO:0958274 benign atrophic papulosis MONDO:8000031 Orphanet:656085 Orphanet:557494 obsolete subtype of a disorder MONDO:0958275 segmental spinal dysgenesis MONDO:0017085 Orphanet:656126 Orphanet:268843 obsolete malformation of the neurenteric canal, spinal cord and column +MONDO:0958278 neurodevelopmental disorder with hypotonia and characteristic brain abnormalities MONDO:0035863 Orphanet:664430 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0958278 neurodevelopmental disorder with hypotonia and characteristic brain abnormalities MONDO:8000032 Orphanet:664430 Orphanet:377789 obsolete malformation syndrome MONDO:0958342 isolated optic nerve aplasia MONDO:0020145 Orphanet:637064 Orphanet:98553 obsolete developmental defect of the eye MONDO:0958342 isolated optic nerve aplasia MONDO:0026186 Orphanet:637064 Orphanet:183557 obsolete genetic developmental defect of the eye MONDO:0958342 isolated optic nerve aplasia MONDO:8000030 Orphanet:637064 Orphanet:377791 obsolete morphological anomaly @@ -13562,6 +13610,52 @@ MONDO:0970961 fibroneural non-saccular limited dorsal myeloschisis MONDO:8000031 MONDO:0970962 terminal myelocystocele MONDO:8000030 Orphanet:645337 Orphanet:377791 obsolete morphological anomaly MONDO:0970963 saccular limited dorsal myeloschisis MONDO:8000030 Orphanet:645354 Orphanet:377791 obsolete morphological anomaly MONDO:0970964 myelic limited dorsal malformation MONDO:8000030 Orphanet:645378 Orphanet:377791 obsolete morphological anomaly +MONDO:0971007 neuroocular syndrome 1 MONDO:0035863 Orphanet:659904 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0971007 neuroocular syndrome 1 MONDO:8000032 Orphanet:659904 Orphanet:377789 obsolete malformation syndrome +MONDO:0971047 PRC-2 complex-related overgrowth spectrum MONDO:0035863 Orphanet:659387 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0971047 PRC-2 complex-related overgrowth spectrum MONDO:0800091 Orphanet:659387 Orphanet:498448 obsolete overgrowth or tall stature syndrome with skeletal involvement +MONDO:0971049 single isolated optic neuritis MONDO:8000031 Orphanet:659626 Orphanet:557494 obsolete subtype of a disorder +MONDO:0971050 relapsing isolated optic neuritis MONDO:8000031 Orphanet:659634 Orphanet:557494 obsolete subtype of a disorder +MONDO:0971056 ocular surface squamous neoplasia MONDO:0015121 Orphanet:659744 Orphanet:101950 obsolete rare eye tumor +MONDO:0971058 verruga peruana MONDO:8000031 Orphanet:659759 Orphanet:557494 obsolete subtype of a disorder +MONDO:0971062 developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation MONDO:8000031 Orphanet:660012 Orphanet:557494 obsolete subtype of a disorder +MONDO:0971063 autosomal dominant dopa-responsive dystonia MONDO:0035862 Orphanet:98808 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0971064 orofacial clefting-cardiac anomalies-facial dysmorphism syndrome MONDO:0015335 Orphanet:660021 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate +MONDO:0971064 orofacial clefting-cardiac anomalies-facial dysmorphism syndrome MONDO:0035863 Orphanet:660021 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0971064 orofacial clefting-cardiac anomalies-facial dysmorphism syndrome MONDO:8000032 Orphanet:660021 Orphanet:377789 obsolete malformation syndrome +MONDO:0971066 megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency MONDO:0018035 Orphanet:661412 Orphanet:331217 obsolete syndrome with combined immunodeficiency +MONDO:0971066 megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency MONDO:0020111 Orphanet:661412 Orphanet:98408 obsolete constitutional megaloblastic anemia due to folate metabolism disorder +MONDO:0971068 Phelan-McDermid syndrome due to 22q13.3 deletion MONDO:8000031 Orphanet:662169 Orphanet:557494 obsolete subtype of a disorder +MONDO:0971069 Phelan-McDermid syndrome due to SHANK3 mutation MONDO:8000031 Orphanet:662172 Orphanet:557494 obsolete subtype of a disorder +MONDO:0971080 Grisel syndrome MONDO:0016434 Orphanet:662255 Orphanet:228218 obsolete acquired dermis elastic tissue disorder +MONDO:0971080 Grisel syndrome MONDO:0032013 Orphanet:662255 Orphanet:377792 obsolete clinical syndrome +MONDO:0971091 acute megakaryoblastic leukemia in adult MONDO:8000031 Orphanet:662934 Orphanet:557494 obsolete subtype of a disorder +MONDO:0971092 soft and hard cleft palate MONDO:8000030 Orphanet:664372 Orphanet:377791 obsolete morphological anomaly +MONDO:0971093 MGP-related spondyloepiphyseal dysplasia MONDO:0015329 Orphanet:664377 Orphanet:139021 obsolete malformation syndrome with short stature +MONDO:0971093 MGP-related spondyloepiphyseal dysplasia MONDO:0026187 Orphanet:664377 Orphanet:183570 obsolete genetic malformation syndrome with short stature +MONDO:0971093 MGP-related spondyloepiphyseal dysplasia MONDO:8000032 Orphanet:664377 Orphanet:377789 obsolete malformation syndrome +MONDO:0971094 cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation MONDO:8000031 Orphanet:664401 Orphanet:557494 obsolete subtype of a disorder +MONDO:0971095 6q25.1 microdeletion syndrome MONDO:8000031 Orphanet:664404 Orphanet:557494 obsolete subtype of a disorder +MONDO:0971103 Nicolau syndrome MONDO:0019546 Orphanet:664787 Orphanet:90077 obsolete other acquired skin disease +MONDO:0971103 Nicolau syndrome MONDO:0032013 Orphanet:664787 Orphanet:377792 obsolete clinical syndrome +MONDO:0971105 neonatal renal venous thrombosis MONDO:0019750 Orphanet:664912 Orphanet:93626 obsolete rare renal disease +MONDO:0971107 common arterial trunk with aortic dominance MONDO:8000031 Orphanet:665044 Orphanet:557494 obsolete subtype of a disorder +MONDO:0971108 common arterial trunk with pulmonary dominance and interrupted aortic arch MONDO:8000031 Orphanet:665058 Orphanet:557494 obsolete subtype of a disorder +MONDO:0971111 intraoral basal cell carcinoma MONDO:0017797 Orphanet:667678 Orphanet:314425 obsolete rare odontologic tumor +MONDO:0971115 benign vascular tumor MONDO:0016228 Orphanet:673470 Orphanet:211237 obsolete rare vascular tumor +MONDO:0971116 borderline vascular tumor MONDO:0016228 Orphanet:673473 Orphanet:211237 obsolete rare vascular tumor +MONDO:0971118 pilocytic astrocytoma with histological features of anaplasia MONDO:8000031 Orphanet:673585 Orphanet:557494 obsolete subtype of a disorder +MONDO:0971119 proteoglycan-related bone disorder MONDO:0031799 Orphanet:674499 Orphanet:364803 obsolete rare bone disease related to a common gene or pathway defect +MONDO:0971127 diffuse unilateral subacute neuroretinitis MONDO:0015577 Orphanet:674947 Orphanet:163588 obsolete rare parasitic disease +MONDO:0971130 choroidal osteoma MONDO:0015121 Orphanet:674965 Orphanet:101950 obsolete rare eye tumor +MONDO:0971137 severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome MONDO:0016404 Orphanet:675775 Orphanet:225707 obsolete metabolic neurotransmission anomaly with epilepsy +MONDO:0971137 severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome MONDO:0035863 Orphanet:675775 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0971138 progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN MONDO:0035863 Orphanet:675782 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0971140 well-differentiated papillary mesothelial tumour of the pleura MONDO:0015119 Orphanet:675822 Orphanet:101945 obsolete bronchopulmonary tumor +MONDO:0971141 localized pleural mesothelioma MONDO:8000031 Orphanet:675833 Orphanet:557494 obsolete subtype of a disorder +MONDO:0971142 diffused pleural mesothelioma MONDO:8000031 Orphanet:675837 Orphanet:557494 obsolete subtype of a disorder +MONDO:0971143 pleural mesothelioma in situ MONDO:8000031 Orphanet:675841 Orphanet:557494 obsolete subtype of a disorder +MONDO:0971145 peritoneal mesothelioma in situ MONDO:0015683 Orphanet:676036 Orphanet:168807 obsolete primary malignant peritoneal tumor MONDO:1040032 EN1-related dorsoventral syndrome MONDO:0017118 Orphanet:611223 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature MONDO:1040032 EN1-related dorsoventral syndrome MONDO:0019697 Orphanet:611223 Orphanet:93438 obsolete mesomelic and rhizo-mesomelic dysplasia MONDO:1040032 EN1-related dorsoventral syndrome MONDO:8000032 Orphanet:611223 Orphanet:377789 obsolete malformation syndrome diff --git a/src/ontology/reports/ordo.subclass.added.robot.tsv b/src/ontology/reports/ordo.subclass.added.robot.tsv index 82c8591c8..c4df41acd 100644 --- a/src/ontology/reports/ordo.subclass.added.robot.tsv +++ b/src/ontology/reports/ordo.subclass.added.robot.tsv @@ -22,10 +22,12 @@ MONDO:0001734 tuberous sclerosis MONDO:0019294 Orphanet:805 Orphanet:79380 mixed MONDO:0001734 tuberous sclerosis MONDO:0019741 Orphanet:805 Orphanet:93587 familial cystic renal disease MONDO:0002474 primary hyperoxaluria MONDO:0017703 Orphanet:416 Orphanet:308998 disorder of glyoxylate metabolism MONDO:0002520 hepatic porphyria MONDO:0019142 Orphanet:659694 Orphanet:738 inherited porphyria +MONDO:0003258 hobnail hemangioma MONDO:0971115 Orphanet:675362 Orphanet:673470 benign vascular tumor MONDO:0003795 ovarian small cell carcinoma MONDO:0018365 Orphanet:370396 Orphanet:398940 malignant non-epithelial tumor of ovary MONDO:0004672 fasciolopsiasis MONDO:0015675 Orphanet:658909 Orphanet:1685 distomatosis MONDO:0005035 ganglioneuroblastoma MONDO:0016713 Orphanet:251877 Orphanet:251870 central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor MONDO:0005048 pancreatic insulin-producing neuroendocrine tumor MONDO:0023206 Orphanet:97279 Orphanet:506060 functional pancreatic neuroendocrine tumor +MONDO:0005055 Kaposi's sarcoma MONDO:0971116 Orphanet:33276 Orphanet:673473 borderline vascular tumor MONDO:0005072 neuroblastoma MONDO:0016713 Orphanet:635 Orphanet:251870 central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor MONDO:0005100 systemic sclerosis MONDO:0016345 Orphanet:90291 Orphanet:217720 non-familial restrictive cardiomyopathy MONDO:0005164 fibrosarcoma MONDO:0021054 Orphanet:2030 Orphanet:223727 bone sarcoma @@ -51,6 +53,7 @@ MONDO:0007073 Hypoglossia-hypodactyly syndrome MONDO:0015159 Orphanet:989 Orphan MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome MONDO:0004907 Orphanet:1008 Orphanet:79364 alopecia MONDO:0007100 familial amyloid neuropathy MONDO:0016340 Orphanet:271861 Orphanet:217635 familial restrictive cardiomyopathy MONDO:0007113 Angelman syndrome MONDO:0015159 Orphanet:72 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0007116 hereditary neurocutaneous angioma MONDO:0971115 Orphanet:1062 Orphanet:673470 benign vascular tumor MONDO:0007119 isolated aniridia MONDO:0011119 Orphanet:250923 Orphanet:98634 iridogoniodysgenesis MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome MONDO:0007124 Orphanet:1072 Orphanet:1071 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome MONDO:0007168 atelosteogenesis type III MONDO:0015159 Orphanet:56305 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -221,6 +224,7 @@ MONDO:0009130 Dyggve-Melchior-Clausen disease MONDO:0015159 Orphanet:239 Orphane MONDO:0009131 Riley-Day syndrome MONDO:0015914 Orphanet:1764 Orphanet:182058 primary orthostatic hypotension MONDO:0009131 Riley-Day syndrome MONDO:0021154 Orphanet:1764 Orphanet:79381 dermis disorder MONDO:0009131 Riley-Day syndrome MONDO:0021272 Orphanet:1764 Orphanet:448426 inherited orthostatic hypotension +MONDO:0009140 Silverman-Handmaker type dyssegmental dysplasia MONDO:0971119 Orphanet:1865 Orphanet:674499 proteoglycan-related bone disorder MONDO:0009149 ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome MONDO:0015159 Orphanet:1812 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009162 Ellis-van Creveld syndrome MONDO:0019741 Orphanet:289 Orphanet:93587 familial cystic renal disease MONDO:0009162 Ellis-van Creveld syndrome MONDO:0022410 Orphanet:289 Orphanet:156165 retinal ciliopathy @@ -305,6 +309,7 @@ MONDO:0009711 congenital fiber-type disproportion myopathy MONDO:0016197 Orphane MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia MONDO:0957115 Orphanet:98905 Orphanet:98742 neurological muscular channelopathy due to a genetic ryanodine receptor defect MONDO:0009716 Richieri Costa-da Silva syndrome MONDO:0015159 Orphanet:3101 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009717 Schwartz-Jampel syndrome MONDO:0016106 Orphanet:800 Orphanet:206644 progressive muscular dystrophy +MONDO:0009717 Schwartz-Jampel syndrome MONDO:0971119 Orphanet:800 Orphanet:674499 proteoglycan-related bone disorder MONDO:0009720 Keipert syndrome MONDO:0015159 Orphanet:2662 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009723 Leigh syndrome MONDO:0020257 Orphanet:506 Orphanet:98687 supranuclear oculomotor palsy MONDO:0009726 proteosome-associated autoinflammatory syndrome MONDO:0020087 Orphanet:324977 Orphanet:98305 hereditary lipodystrophy @@ -327,6 +332,7 @@ MONDO:0009833 Shwachman-Diamond syndrome MONDO:0001713 Orphanet:811 Orphanet:683 MONDO:0009833 Shwachman-Diamond syndrome MONDO:0015159 Orphanet:811 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009841 PEHO syndrome MONDO:0015650 Orphanet:2836 Orphanet:166463 epilepsy syndrome MONDO:0009856 Peters plus syndrome MONDO:0850008 Orphanet:709 Orphanet:519276 anterior segment developmental abnormality with extraocular manifestations +MONDO:0009902 cutaneous porphyria MONDO:0001676 Orphanet:79277 Orphanet:659681 erythropoietic protoporphyria MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum MONDO:0016340 Orphanet:758 Orphanet:217635 familial restrictive cardiomyopathy MONDO:0009937 pulmonary venoocclusive disease MONDO:0018554 Orphanet:31837 Orphanet:431353 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis MONDO:0009940 pycnodysostosis MONDO:0015338 Orphanet:763 Orphanet:139393 syndromic craniosynostosis @@ -362,6 +368,7 @@ MONDO:0010176 orofaciodigital syndrome type 6 MONDO:0015159 Orphanet:2754 Orphan MONDO:0010176 orofaciodigital syndrome type 6 MONDO:0015369 Orphanet:2754 Orphanet:140874 Joubert syndrome and related disorders MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC MONDO:0001549 Orphanet:79282 Orphanet:544458 hemolytic-uremic syndrome MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC MONDO:0957097 Orphanet:79282 Orphanet:576742 hereditary hemolytic uremic syndrome +MONDO:0010193 Weaver syndrome MONDO:0971047 Orphanet:3447 Orphanet:659387 PRC-2 complex-related overgrowth spectrum MONDO:0010196 Werner syndrome MONDO:0016382 Orphanet:902 Orphanet:222628 hereditary poikiloderma MONDO:0010200 Wilson disease MONDO:0020257 Orphanet:905 Orphanet:98687 supranuclear oculomotor palsy MONDO:0010214 xeroderma pigmentosum variant type MONDO:0015333 Orphanet:90342 Orphanet:139033 progeroid syndrome @@ -399,6 +406,7 @@ MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type MONDO:0 MONDO:0010464 X-linked cerebral-cerebellar-coloboma syndrome syndrome MONDO:0015159 Orphanet:163961 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0010498 MEND syndrome MONDO:0015159 Orphanet:401973 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0010507 Xq25 microduplication syndrome MONDO:0015159 Orphanet:521258 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010512 intellectual disability, X-linked, syndromic, Bain type MONDO:0015159 Orphanet:662198 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0010514 combined immunodeficiency due to moesin deficiency MONDO:0018814 Orphanet:504530 Orphanet:480549 non-SCID combined immunodeficiency MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome MONDO:0015159 Orphanet:847 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0010523 X-linked reticulate pigmentary disorder MONDO:0019289 Orphanet:85453 Orphanet:79375 hyperpigmentation of the skin @@ -463,6 +471,7 @@ MONDO:0010754 van den Bosch syndrome MONDO:0015159 Orphanet:3417 Orphanet:102283 MONDO:0010758 Wieacker-Wolff syndrome MONDO:0015159 Orphanet:3454 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0010758 Wieacker-Wolff syndrome MONDO:0015159 Orphanet:85283 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0010773 mitochondrial myopathy with diabetes MONDO:0015967 Orphanet:2596 Orphanet:183625 monogenic diabetes +MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss MONDO:0019497 Orphanet:90641 Orphanet:87884 nonsyndromic genetic hearing loss MONDO:0010790 MERRF syndrome MONDO:0020074 Orphanet:551 Orphanet:98261 progressive myoclonus epilepsy MONDO:0010797 Pearson syndrome MONDO:0020099 Orphanet:699 Orphanet:98362 inherited sideroblastic anemia MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome MONDO:0015967 Orphanet:2255 Orphanet:183625 monogenic diabetes @@ -545,6 +554,7 @@ MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis MONDO: MONDO:0011841 biotin-responsive basal ganglia disease MONDO:0015653 Orphanet:199348 Orphanet:166472 monogenic epilepsy MONDO:0011882 skin fragility-woolly hair-palmoplantar keratoderma syndrome MONDO:0019287 Orphanet:293165 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair MONDO:0015159 Orphanet:2701 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011927 tufted angioma MONDO:0971115 Orphanet:1063 Orphanet:673470 benign vascular tumor MONDO:0011936 microphthalmia with brain and digit anomalies MONDO:0015159 Orphanet:139471 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0011957 retinal macular dystrophy type 2 MONDO:0957048 Orphanet:319640 Orphanet:519302 isolated macular dystrophy MONDO:0011959 sweet syndrome MONDO:0957018 Orphanet:3243 Orphanet:319719 autoinflammatory syndrome of childhood @@ -553,6 +563,7 @@ MONDO:0011976 lipodystrophy-intellectual disability-deafness syndrome MONDO:0015 MONDO:0011979 adult-onset foveomacular vitelliform dystrophy MONDO:0018973 Orphanet:99000 Orphanet:63454 patterned dystrophy of the retinal pigment epithelium MONDO:0012013 Weill-Marchesani syndrome 2, dominant MONDO:0850009 Orphanet:2084 Orphanet:519294 syndromic microspherophakia MONDO:0012016 capillary malformation-arteriovenous malformation syndrome MONDO:0021060 Orphanet:137667 Orphanet:536391 RASopathy +MONDO:0012019 spondyloepiphyseal dysplasia, Kimberley type MONDO:0971119 Orphanet:93283 Orphanet:674499 proteoglycan-related bone disorder MONDO:0012118 COG7-congenital disorder of glycosylation MONDO:0015159 Orphanet:79333 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0012126 familial avascular necrosis of femoral head MONDO:0022800 Orphanet:86820 Orphanet:93421 type 2 collagenopathy MONDO:0012137 Carney complex - trismus - pseudocamptodactyly syndrome MONDO:0019289 Orphanet:319340 Orphanet:79375 hyperpigmentation of the skin @@ -604,6 +615,7 @@ MONDO:0012864 chromosome 2q32-q33 deletion syndrome MONDO:0015159 Orphanet:25101 MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type MONDO:0034021 Orphanet:157965 Orphanet:536471 spondylodysplastic Ehlers-Danlos syndrome MONDO:0012929 Compton-North congenital myopathy MONDO:0015168 Orphanet:210163 Orphanet:1037 arthrogryposis multiplex congenita MONDO:0012948 chromosome 6pter-p24 deletion syndrome MONDO:0850008 Orphanet:96125 Orphanet:519276 anterior segment developmental abnormality with extraocular manifestations +MONDO:0013014 spondyloepimetaphyseal dysplasia, aggrecan type MONDO:0971119 Orphanet:171866 Orphanet:674499 proteoglycan-related bone disorder MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency MONDO:0016527 Orphanet:284426 Orphanet:2364 glycogen storage disease due to lactate dehydrogenase deficiency MONDO:0013081 lymphoproliferative syndrome 1 MONDO:0018814 Orphanet:538963 Orphanet:480549 non-SCID combined immunodeficiency MONDO:0013115 RIN2 syndrome MONDO:0015159 Orphanet:217335 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -614,6 +626,7 @@ MONDO:0013176 Weill-Marchesani 4 syndrome, recessive MONDO:0850009 Orphanet:3639 MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies MONDO:0015159 Orphanet:221139 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies MONDO:0015708 Orphanet:221139 Orphanet:169349 immuno-osseous dysplasia MONDO:0013256 chromosome 15q24 deletion syndrome MONDO:0044699 Orphanet:94065 Orphanet:500163 SIN3A-related intellectual disability syndrome +MONDO:0013266 intellectual disability, autosomal dominant 20 MONDO:0015159 Orphanet:664410 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly MONDO:0004907 Orphanet:228390 Orphanet:79364 alopecia MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly MONDO:0015159 Orphanet:228390 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0013308 CBL-related disorder MONDO:0020297 Orphanet:363972 Orphanet:98733 Noonan syndrome and Noonan-related syndrome @@ -698,6 +711,7 @@ MONDO:0014559 progressive essential tremor-speech impairment-facial dysmorphism- MONDO:0014608 mandibulofacial dysostosis with alopecia MONDO:0004907 Orphanet:443995 Orphanet:79364 alopecia MONDO:0014637 DOCK2 deficiency MONDO:0018814 Orphanet:447737 Orphanet:480549 non-SCID combined immunodeficiency MONDO:0014645 BENTA disease MONDO:0018814 Orphanet:464336 Orphanet:480549 non-SCID combined immunodeficiency +MONDO:0014705 craniosynostosis 6 MONDO:0015338 Orphanet:672985 Orphanet:139393 syndromic craniosynostosis MONDO:0014707 14q32 duplication syndrome MONDO:0020076 Orphanet:488280 Orphanet:98274 myeloproliferative neoplasm MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency MONDO:0000001 Orphanet:477857 Orphanet:377788 disease MONDO:0014722 Roifman syndrome MONDO:0015159 Orphanet:353298 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -720,6 +734,7 @@ MONDO:0014888 MIRAGE syndrome MONDO:0015514 Orphanet:494433 Orphanet:156643 here MONDO:0014888 MIRAGE syndrome MONDO:0015898 Orphanet:494433 Orphanet:181412 adrenogenital syndrome MONDO:0014890 PERCHING syndrome MONDO:0015159 Orphanet:603684 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014946 Sifrim-Hitz-Weiss syndrome MONDO:0015159 Orphanet:653712 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014948 short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay MONDO:0015159 Orphanet:659702 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0015014 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness MONDO:0016073 Orphanet:603494 Orphanet:202948 syndromic microphthalmia MONDO:0015014 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness MONDO:0017198 Orphanet:603494 Orphanet:2781 osteopetrosis MONDO:0015014 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness MONDO:0017305 Orphanet:603494 Orphanet:284811 syndromic oculocutaneous albinism @@ -728,6 +743,7 @@ MONDO:0015028 48,XXYY syndrome MONDO:0015159 Orphanet:10 Orphanet:102283 multipl MONDO:0015055 acquired angioedema type 2 MONDO:0033948 Orphanet:100055 Orphanet:528663 acquired angioedema with C1Inh deficiency MONDO:0015056 acquired angioedema type 1 MONDO:0033948 Orphanet:100056 Orphanet:528663 acquired angioedema with C1Inh deficiency MONDO:0015061 neurogenic thoracic outlet syndrome MONDO:0015923 Orphanet:100073 Orphanet:182086 acquired peripheral neuropathy +MONDO:0015104 porphyria cutanea tarda MONDO:0971154 Orphanet:101330 Orphanet:659698 hepatic cutaneous porphyria MONDO:0015198 aniridia-ptosis-intellectual disability-familial obesity syndrome MONDO:0015159 Orphanet:1067 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0015199 aniridia - intellectual disability syndrome MONDO:0015159 Orphanet:1068 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0015201 ankyloblepharon filiforme-imperforate anus syndrome MONDO:0007124 Orphanet:1074 Orphanet:1071 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome @@ -752,6 +768,7 @@ MONDO:0015538 indeterminate dendritic cell tumor MONDO:0020082 Orphanet:158019 O MONDO:0015552 acral dystrophic epidermolysis bullosa MONDO:0035349 Orphanet:158673 Orphanet:595356 localized dystrophic epidermolysis bullosa MONDO:0015553 dystrophic epidermolysis bullosa, nails only MONDO:0035349 Orphanet:158676 Orphanet:595356 localized dystrophic epidermolysis bullosa MONDO:0015564 Castleman disease MONDO:0015757 Orphanet:160 Orphanet:171898 lymphoid hemopathy +MONDO:0015566 2q24 microdeletion syndrome MONDO:0859257 Orphanet:1617 Orphanet:660017 intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism MONDO:0015583 2p21 microdeletion syndrome MONDO:0011669 Orphanet:163693 Orphanet:238517 hypotonia-cystinuria syndrome MONDO:0015600 X-linked intellectual disability, Cilliers type MONDO:0015159 Orphanet:163971 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0015601 X-linked intellectual disability, van Esch type MONDO:0015159 Orphanet:163976 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -785,6 +802,9 @@ MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency MONDO:00 MONDO:0016097 symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers MONDO:0016147 Orphanet:206546 Orphanet:207085 qualitative or quantitative defects of dystrophin MONDO:0016113 bulbospinal muscular atrophy MONDO:0024257 Orphanet:206701 Orphanet:98505 hereditary motor neuron disease MONDO:0016163 autosomal dominant cerebellar ataxia type II MONDO:0020257 Orphanet:94147 Orphanet:98687 supranuclear oculomotor palsy +MONDO:0016222 spindle cell hemangioma MONDO:0971115 Orphanet:210584 Orphanet:673470 benign vascular tumor +MONDO:0016223 infantile hemangioma of rare localization MONDO:0971115 Orphanet:210589 Orphanet:673470 benign vascular tumor +MONDO:0016236 kaposiform hemangioendothelioma MONDO:0971116 Orphanet:2122 Orphanet:673473 borderline vascular tumor MONDO:0016237 diffuse neonatal hemangiomatosis MONDO:0016223 Orphanet:2123 Orphanet:210589 infantile hemangioma of rare localization MONDO:0016238 solitary fibrous tumor MONDO:0018078 Orphanet:2126 Orphanet:3394 soft tissue sarcoma MONDO:0016239 cystinosis MONDO:0000044 Orphanet:213 Orphanet:437 hereditary hypophosphatemic rickets @@ -799,6 +819,7 @@ MONDO:0016366 maternal phenylketonuria MONDO:0015159 Orphanet:2209 Orphanet:1022 MONDO:0016385 hypogonadism-mitral valve prolapse-intellectual disability syndrome MONDO:0015159 Orphanet:2233 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0016414 hypotrichosis-intellectual disability, Lopes type MONDO:0015159 Orphanet:2266 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0016414 hypotrichosis-intellectual disability, Lopes type MONDO:0019287 Orphanet:2266 Orphanet:79373 ectodermal dysplasia syndrome +MONDO:0016456 5q14.3 microdeletion syndrome MONDO:0013266 Orphanet:228384 Orphanet:664410 intellectual disability, autosomal dominant 20 MONDO:0016457 ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome MONDO:0850007 Orphanet:228396 Orphanet:519274 syndromic lacrimal system disorder MONDO:0016459 2q23.1 microdeletion syndrome MONDO:0015159 Orphanet:228402 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0016460 polyvalvular heart disease syndrome MONDO:0015159 Orphanet:228410 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -829,6 +850,7 @@ MONDO:0017103 encephaloclastic disorder MONDO:0957008 Orphanet:269190 Orphanet:2 MONDO:0017190 sporadic pheochromocytoma/secreting paraganglioma MONDO:0035540 Orphanet:276621 Orphanet:573163 pheochromocytoma-paraganglioma MONDO:0017193 symptomatic form of Coffin-Lowry syndrome in female carriers MONDO:0015159 Orphanet:276630 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0017196 osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome MONDO:0015159 Orphanet:2773 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0017231 erythropoietic uroporphyria associated with myeloid malignancy MONDO:0001676 Orphanet:280379 Orphanet:659681 erythropoietic protoporphyria MONDO:0017279 young-onset Parkinson disease MONDO:0015914 Orphanet:2828 Orphanet:182058 primary orthostatic hypotension MONDO:0017279 young-onset Parkinson disease MONDO:0021272 Orphanet:2828 Orphanet:448426 inherited orthostatic hypotension MONDO:0017364 POEMS syndrome MONDO:0004959 Orphanet:2905 Orphanet:98282 plasma cell neoplasm @@ -912,6 +934,7 @@ MONDO:0018540 PFAPA syndrome MONDO:0015158 Orphanet:42642 Orphanet:102237 unexpl MONDO:0018543 autosomal dominant hypocalcemia MONDO:0015653 Orphanet:428 Orphanet:166472 monogenic epilepsy MONDO:0018544 adrenoleukodystrophy MONDO:0019233 Orphanet:43 Orphanet:79188 disorder of peroxisomal beta oxidation MONDO:0018555 hypogonadotropic hypogonadism MONDO:0016553 Orphanet:432 Orphanet:238666 isolated congenital hypogonadotropic hypogonadism +MONDO:0018566 short stature-advanced bone age-early-onset osteoarthritis syndrome MONDO:0971119 Orphanet:435804 Orphanet:674499 proteoglycan-related bone disorder MONDO:0018569 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome MONDO:0015159 Orphanet:435938 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0018571 contractures-developmental delay-Pierre Robin syndrome MONDO:0015159 Orphanet:436003 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0018608 pure autonomic failure MONDO:0015914 Orphanet:441 Orphanet:182058 primary orthostatic hypotension @@ -924,6 +947,10 @@ MONDO:0018657 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndr MONDO:0018657 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome MONDO:0019288 Orphanet:447961 Orphanet:79374 skin pigmentation disorder MONDO:0018686 acquired Creutzfeldt-Jakob disease MONDO:0035562 Orphanet:454700 Orphanet:576360 acquired human prion disease MONDO:0018705 infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome MONDO:0015159 Orphanet:457205 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018712 composite hemangioendothelioma MONDO:0971116 Orphanet:458758 Orphanet:673473 borderline vascular tumor +MONDO:0018713 retiform hemangioendothelioma MONDO:0971116 Orphanet:458763 Orphanet:673473 borderline vascular tumor +MONDO:0018714 primary intralymphatic angioendothelioma MONDO:0971116 Orphanet:458768 Orphanet:673473 borderline vascular tumor +MONDO:0018715 congenital hemangioma MONDO:0971115 Orphanet:458775 Orphanet:673470 benign vascular tumor MONDO:0018734 verrucous hemangioma MONDO:0016231 Orphanet:464318 Orphanet:211247 capillary malformation MONDO:0018736 kaposiform lymphangiomatosis MONDO:0002013 Orphanet:464329 Orphanet:2415 lymphangioma MONDO:0018740 drug-induced methemoglobinemia MONDO:0019050 Orphanet:464453 Orphanet:68364 inherited hemoglobinopathy @@ -977,6 +1004,7 @@ MONDO:0019084 radiation proctitis MONDO:0043459 Orphanet:70475 Orphanet:521132 r MONDO:0019088 post-transplant lymphoproliferative disease MONDO:0015760 Orphanet:70568 Orphanet:171918 T-cell non-Hodgkin lymphoma MONDO:0019088 post-transplant lymphoproliferative disease MONDO:0017343 Orphanet:70568 Orphanet:289644 Epstein-Barr virus-associated malignant lymphoproliferative disorder MONDO:0019088 post-transplant lymphoproliferative disease MONDO:0020083 Orphanet:70568 Orphanet:98290 immunodeficiency-associated lymphoproliferative disease +MONDO:0019101 retinal capillary malformation MONDO:0971115 Orphanet:71213 Orphanet:673470 benign vascular tumor MONDO:0019102 dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome MONDO:0015159 Orphanet:71267 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0019129 global developmental delay-osteopenia-ectodermal defect syndrome MONDO:0015159 Orphanet:73223 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0019130 tubular renal disease-cardiomyopathy syndrome MONDO:0015962 Orphanet:73224 Orphanet:183592 inherited renal tubular disease @@ -1031,6 +1059,7 @@ MONDO:0019784 12q14 microdeletion syndrome MONDO:0015159 Orphanet:94063 Orphanet MONDO:0019784 12q14 microdeletion syndrome MONDO:0017198 Orphanet:94063 Orphanet:2781 osteopetrosis MONDO:0019788 non-secreting paraganglioma MONDO:0035540 Orphanet:94080 Orphanet:573163 pheochromocytoma-paraganglioma MONDO:0019797 acrodysostosis MONDO:0015159 Orphanet:950 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0019799 hepatoerythropoietic porphyria MONDO:0001676 Orphanet:95159 Orphanet:659681 erythropoietic protoporphyria MONDO:0019851 acquired primary ovarian failure MONDO:0015514 Orphanet:95709 Orphanet:156643 hereditary endocrine growth disease MONDO:0019928 48,XXXY syndrome MONDO:0015159 Orphanet:96263 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0019929 49,XXXXY syndrome MONDO:0015159 Orphanet:96264 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -1065,6 +1094,7 @@ MONDO:0020774 Menke-Hennekam syndrome MONDO:0015159 Orphanet:592574 Orphanet:102 MONDO:0020783 capillary malformation-arteriovenous malformation 1 MONDO:0007864 Orphanet:90307 Orphanet:2346 angioosteohypertrophic syndrome MONDO:0021005 faciodigitogenital syndrome MONDO:0015159 Orphanet:915 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0021081 anti-NMDA receptor encephalitis MONDO:0020640 Orphanet:217253 Orphanet:622014 autoimmune encephalitis +MONDO:0021169 epithelioid hemangioma MONDO:0971115 Orphanet:675396 Orphanet:673470 benign vascular tumor MONDO:0021651 synpolydactyly MONDO:0019530 Orphanet:93403 Orphanet:90025 non-syndromic syndactyly MONDO:0022851 Dennis-Fairhurst-Moore syndrome MONDO:0015159 Orphanet:2109 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0022851 Dennis-Fairhurst-Moore syndrome MONDO:0019287 Orphanet:2109 Orphanet:79373 ectodermal dysplasia syndrome @@ -1074,14 +1104,17 @@ MONDO:0023201 Fryns Smeets Thiry syndrome MONDO:0015159 Orphanet:2058 Orphanet:1 MONDO:0024504 enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor MONDO:0023206 Orphanet:506090 Orphanet:506060 functional pancreatic neuroendocrine tumor MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 MONDO:0100309 Orphanet:572543 Orphanet:183518 hereditary ataxia MONDO:0024557 ataxia-telangiectasia-like disorder 1 MONDO:0019293 Orphanet:251347 Orphanet:79379 skin vascular disease +MONDO:0024777 immunodeficiency 98 with autoinflammation, X-linked MONDO:0020083 Orphanet:675628 Orphanet:98290 immunodeficiency-associated lymphoproliferative disease MONDO:0024781 immunodeficiency 102 MONDO:0018814 Orphanet:653751 Orphanet:480549 non-SCID combined immunodeficiency MONDO:0025193 oculopharyngodistal myopathy MONDO:0016108 Orphanet:98897 Orphanet:206650 autosomal dominant distal myopathy MONDO:0025514 livedoid vasculopathy MONDO:0019293 Orphanet:542643 Orphanet:79379 skin vascular disease MONDO:0029134 severe combined immunodeficiency due to CARMIL2 deficiency MONDO:0018814 Orphanet:542301 Orphanet:480549 non-SCID combined immunodeficiency MONDO:0030045 Liberfarb syndrome MONDO:0015159 Orphanet:589442 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0030048 harderoporphyria MONDO:0001676 Orphanet:659672 Orphanet:659681 erythropoietic protoporphyria MONDO:0030074 spondylometaphyseal dysplasia with corneal dystrophy MONDO:0015159 Orphanet:589435 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0030074 spondylometaphyseal dysplasia with corneal dystrophy MONDO:0016763 Orphanet:589435 Orphanet:254 spondylometaphyseal dysplasia MONDO:0030258 pontocerebellar hypoplasia, type 14 MONDO:0015159 Orphanet:613274 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0030524 mucopolysaccharidosis, type 10 MONDO:0800088 Orphanet:662216 Orphanet:93448 lysosomal storage disease with skeletal involvement MONDO:0030805 spinocerebellar ataxia 49 MONDO:0019792 Orphanet:631106 Orphanet:94145 autosomal dominant cerebellar ataxia type I MONDO:0030880 mandibuloacral dysplasia progeroid syndrome MONDO:0015333 Orphanet:647667 Orphanet:139033 progeroid syndrome MONDO:0030880 mandibuloacral dysplasia progeroid syndrome MONDO:0019707 Orphanet:647667 Orphanet:93449 primary osteolysis @@ -1110,9 +1143,16 @@ MONDO:0032688 polymicrogyria with or without vascular-type Ehlers-Danlos syndrom MONDO:0032714 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome MONDO:0015159 Orphanet:598603 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0032714 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome MONDO:0019280 Orphanet:598603 Orphanet:79365 hypertrichosis MONDO:0032716 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate MONDO:0016790 Orphanet:615964 Orphanet:254749 tricarboxylic acid cycle disorder +MONDO:0032820 neurodevelopmental disorder with structural brain anomalies and dysmorphic facies MONDO:0015159 Orphanet:659609 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0032830 snijders blok-fisher syndrome MONDO:0015159 Orphanet:656135 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0032831 pontocerebellar hypoplasia, type 13 MONDO:0015159 Orphanet:613267 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0032838 neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies MONDO:0015159 Orphanet:664923 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0032838 neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies MONDO:0015168 Orphanet:664923 Orphanet:1037 arthrogryposis multiplex congenita MONDO:0032886 Liang-Wang syndrome MONDO:0015159 Orphanet:664438 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0032916 Imagawa-Matsumoto syndrome MONDO:0971047 Orphanet:659463 Orphanet:659387 PRC-2 complex-related overgrowth spectrum +MONDO:0032928 T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant MONDO:0018814 Orphanet:676039 Orphanet:480549 non-SCID combined immunodeficiency +MONDO:0032942 neurodevelopmental disorder with microcephaly and dysmorphic facies MONDO:0015159 Orphanet:662179 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0032943 neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies MONDO:0015159 Orphanet:662175 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0033282 multiple mitochondrial dysfunctions syndrome 5 MONDO:0024237 Orphanet:569274 Orphanet:183500 inherited neurodegenerative disorder MONDO:0033479 spinocerebellar ataxia 44 MONDO:0019793 Orphanet:631095 Orphanet:94148 autosomal dominant cerebellar ataxia type III MONDO:0033642 neurodevelopmental disorder with alopecia and brain abnormalities MONDO:0015159 Orphanet:544488 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -1159,7 +1199,6 @@ MONDO:0035511 ricin poisoning MONDO:0005570 Orphanet:570470 Orphanet:97992 hemat MONDO:0035521 blepharophimosis-ptosis-epicanthus inversus syndrome plus MONDO:0008537 Orphanet:572333 Orphanet:98575 telecanthus MONDO:0035521 blepharophimosis-ptosis-epicanthus inversus syndrome plus MONDO:0015159 Orphanet:572333 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0035521 blepharophimosis-ptosis-epicanthus inversus syndrome plus MONDO:0016902 Orphanet:572333 Orphanet:262019 partial deletion of the long arm of chromosome 3 -MONDO:0035547 predisposition to severe viral infection due to IRF7 deficiency MONDO:0000001 Orphanet:574918 Orphanet:377788 disease MONDO:0035548 autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency MONDO:0000001 Orphanet:574957 Orphanet:377788 disease MONDO:0035605 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality MONDO:0020511 Orphanet:585877 Orphanet:99860 precursor B-cell acute lymphoblastic leukemia MONDO:0035605 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality MONDO:0850064 Orphanet:585877 Orphanet:619340 inherited hematologic cancer-predisposing syndrome @@ -1187,6 +1226,7 @@ MONDO:0036189 oculogastrointestinal-neurodevelopmental syndrome MONDO:0016073 Or MONDO:0036212 spastic paraparesis-cataracts-speech delay syndrome MONDO:0015087 Orphanet:615938 Orphanet:100979 autosomal dominant complex spastic paraplegia MONDO:0036218 lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster MONDO:0016883 Orphanet:615986 Orphanet:261857 partial deletion of the short arm of chromosome 1 MONDO:0042727 sacrococcygeal teratoma MONDO:0019500 Orphanet:494421 Orphanet:883 extragonadal teratoma +MONDO:0043349 intravascular papillary endothelial hyperplasia MONDO:0971115 Orphanet:673525 Orphanet:673470 benign vascular tumor MONDO:0044302 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder MONDO:0015159 Orphanet:646278 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0044323 Rahman syndrome MONDO:0015159 Orphanet:642763 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0044634 retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome MONDO:0015159 Orphanet:494439 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -1203,6 +1243,7 @@ MONDO:0044877 paraneoplastic cerebellar degeneration MONDO:0859692 Orphanet:6236 MONDO:0054669 pontocerebellar hypoplasia, type 11 MONDO:0015159 Orphanet:611247 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0054785 multiple mitochondrial dysfunctions syndrome 6 MONDO:0024237 Orphanet:569290 Orphanet:183500 inherited neurodegenerative disorder MONDO:0060490 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies MONDO:0015159 Orphanet:544469 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0060510 Cohen-Gibson syndrome MONDO:0971047 Orphanet:659396 Orphanet:659387 PRC-2 complex-related overgrowth spectrum MONDO:0060532 congenital heart defects and skeletal malformations syndrome MONDO:0015161 Orphanet:643503 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0060533 microcephaly, short stature, and limb abnormalities MONDO:0035534 Orphanet:572773 Orphanet:572761 DONSON-related microcephaly-short stature-limb abnormalities spectrum MONDO:0060549 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay MONDO:0015159 Orphanet:656130 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -1210,6 +1251,7 @@ MONDO:0060611 combined immunodeficiency and megaloblastic anemia with or without MONDO:0060631 Alkuraya-Kucinskas syndrome MONDO:0015159 Orphanet:610569 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0060631 Alkuraya-Kucinskas syndrome MONDO:0015168 Orphanet:610569 Orphanet:1037 arthrogryposis multiplex congenita MONDO:0060707 Ververi-Brady syndrome MONDO:0015159 Orphanet:580940 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0060763 intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities MONDO:0015159 Orphanet:662829 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0100062 developmental and epileptic encephalopathy MONDO:0020070 Orphanet:1934 Orphanet:98257 neonatal epilepsy syndrome MONDO:0100133 mitochondrial complex I deficiency MONDO:0009637 Orphanet:2609 Orphanet:206966 inborn mitochondrial myopathy MONDO:0100147 SATB2 associated disorder MONDO:0015159 Orphanet:576278 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -1224,6 +1266,7 @@ MONDO:0100347 carcinoid syndrome MONDO:0019496 Orphanet:100093 Orphanet:877 neur MONDO:0100349 COACH syndrome MONDO:0015159 Orphanet:1454 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0100349 COACH syndrome MONDO:0022410 Orphanet:1454 Orphanet:156165 retinal ciliopathy MONDO:0100367 port-wine nevi-mega cisterna magna-hydrocephalus syndrome MONDO:0015161 Orphanet:2703 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0100462 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans MONDO:0971119 Orphanet:251262 Orphanet:674499 proteoglycan-related bone disorder MONDO:0100566 myoclonic epilepsy in infancy MONDO:0020071 Orphanet:86909 Orphanet:98258 infantile epilepsy syndrome MONDO:0600030 B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) MONDO:0035605 Orphanet:585956 Orphanet:585877 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality MONDO:0800025 Teebi hypertelorism syndrome 1 MONDO:0015161 Orphanet:1519 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -1282,8 +1325,12 @@ MONDO:0859007 mosaic Legius syndrome MONDO:0021060 Orphanet:634511 Orphanet:5363 MONDO:0859139 blepharophimosis-impaired intellectual development syndrome MONDO:0017393 Orphanet:637013 Orphanet:293642 blepharophimosis - intellectual disability syndrome MONDO:0859143 Radio-Tartaglia syndrome MONDO:0015159 Orphanet:662234 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0859147 Marbach-Rustad progeroid syndrome MONDO:0015161 Orphanet:659873 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0859206 neurodevelopmental disorder with hearing loss and spasticity MONDO:0015159 Orphanet:659975 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0859219 Rauch-Steindl syndrome MONDO:0015159 Orphanet:659642 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0859297 neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities MONDO:0015159 Orphanet:662189 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0859301 neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects MONDO:0015159 Orphanet:662207 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0859324 developmental delay, language impairment, and ocular abnormalities MONDO:0015159 Orphanet:662762 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0859340 spinocerebellar ataxia 27B, late-onset MONDO:0019792 Orphanet:675216 Orphanet:94145 autosomal dominant cerebellar ataxia type I MONDO:0859692 immune-mediated cerebellar ataxia MONDO:0020640 Orphanet:623638 Orphanet:622014 autoimmune encephalitis MONDO:0957403 periodic fever syndrome of childhood MONDO:0957018 Orphanet:324939 Orphanet:319719 autoinflammatory syndrome of childhood MONDO:0957405 granulomatous autoinflammatory syndrome of childhood MONDO:0957018 Orphanet:324950 Orphanet:319719 autoinflammatory syndrome of childhood @@ -1300,5 +1347,8 @@ MONDO:0958122 idiopathic small fibers neuropathy MONDO:0015923 Orphanet:658549 O MONDO:0958130 Greig cephalopolysyndactyly-contiguous gene syndrome MONDO:0005308 Orphanet:658805 Orphanet:363250 ciliopathy MONDO:0958130 Greig cephalopolysyndactyly-contiguous gene syndrome MONDO:0016889 Orphanet:658805 Orphanet:261911 partial deletion of the short arm of chromosome 7 MONDO:0958275 segmental spinal dysgenesis MONDO:0000859 Orphanet:656126 Orphanet:645202 spina bifida occulta +MONDO:0958278 neurodevelopmental disorder with hypotonia and characteristic brain abnormalities MONDO:0015159 Orphanet:664430 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0971007 neuroocular syndrome 1 MONDO:0015159 Orphanet:659904 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0971137 severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome MONDO:0020076 Orphanet:675775 Orphanet:98274 myeloproliferative neoplasm MONDO:1040033 congenital muscular dystrophy without intellectual disability MONDO:0018276 Orphanet:370980 Orphanet:370953 muscular dystrophy-dystroglycanopathy MONDO:8000012 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 MONDO:0015159 Orphanet:456312 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability diff --git a/src/ontology/reports/ordo.subclass.confirmed.robot.tsv b/src/ontology/reports/ordo.subclass.confirmed.robot.tsv index d730618d9..d97c868cd 100644 --- a/src/ontology/reports/ordo.subclass.confirmed.robot.tsv +++ b/src/ontology/reports/ordo.subclass.confirmed.robot.tsv @@ -18,6 +18,7 @@ MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia MONDO:0020099 MONDO:0001347 facioscapulohumeral muscular dystrophy MONDO:0016106 Orphanet:269 Orphanet:206644 progressive muscular dystrophy MONDO:0001569 acoustic neuroma MONDO:0002546 Orphanet:252175 Orphanet:252164 schwannoma MONDO:0001586 mucopolysaccharidosis type 1 MONDO:0019249 Orphanet:579 Orphanet:79213 mucopolysaccharidosis +MONDO:0001676 erythropoietic protoporphyria MONDO:0019142 Orphanet:659681 Orphanet:738 inherited porphyria MONDO:0001713 inherited aplastic anemia MONDO:0015909 Orphanet:68383 Orphanet:182040 aplastic anemia MONDO:0002142 undifferentiated pleomorphic sarcoma MONDO:0018078 Orphanet:2023 Orphanet:3394 soft tissue sarcoma MONDO:0002142 undifferentiated pleomorphic sarcoma MONDO:0021054 Orphanet:2023 Orphanet:223727 bone sarcoma @@ -266,7 +267,6 @@ MONDO:0007478 autosomal dominant Kenny-Caffey syndrome MONDO:0016516 Orphanet:93 MONDO:0007483 dyschromatosis symmetrica hereditaria MONDO:0019289 Orphanet:41 Orphanet:79375 hyperpigmentation of the skin MONDO:0007486 hereditary benign intraepithelial dyskeratosis MONDO:0020212 Orphanet:352657 Orphanet:98625 superficial corneal dystrophy MONDO:0007493 torsion dystonia 4 MONDO:0015990 Orphanet:98805 Orphanet:1866 focal, segmental or multifocal dystonia -MONDO:0007495 dystonia 5 MONDO:0016812 Orphanet:98808 Orphanet:255 dopa-responsive dystonia MONDO:0007510 Clouston syndrome MONDO:0019287 Orphanet:189 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0007511 ectodermal dysplasia, trichoodontoonychial type MONDO:0019287 Orphanet:1818 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0007519 Edinburgh malformation syndrome MONDO:0043009 Orphanet:1895 Orphanet:471383 hereditary lethal multiple congenital anomalies/dysmorphic syndrome @@ -1214,6 +1214,7 @@ MONDO:0010399 chromosome Xp21 deletion syndrome MONDO:0017004 Orphanet:261476 Or MONDO:0010403 albinism-hearing loss syndrome MONDO:0019290 Orphanet:998 Orphanet:79376 hypopigmentation of the skin MONDO:0010404 X-linked non progressive cerebellar ataxia MONDO:0016612 Orphanet:314978 Orphanet:247765 X-linked cerebellar ataxia MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome MONDO:0015161 Orphanet:140952 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0010420 X-linked erythropoietic protoporphyria MONDO:0001676 Orphanet:443197 Orphanet:659681 erythropoietic protoporphyria MONDO:0010421 Bruton-type agammaglobulinemia MONDO:0016462 Orphanet:47 Orphanet:229717 isolated agammaglobulinemia MONDO:0010425 Lisch epithelial corneal dystrophy MONDO:0020212 Orphanet:98955 Orphanet:98625 superficial corneal dystrophy MONDO:0010426 X-linked endothelial corneal dystrophy MONDO:0020214 Orphanet:293621 Orphanet:98627 posterior corneal dystrophy @@ -2028,6 +2029,7 @@ MONDO:0014115 hypomyelination with brain stem and spinal cord involvement and le MONDO:0014117 Charcot-Marie-Tooth disease type 4B3 MONDO:0018995 Orphanet:363981 Orphanet:64749 Charcot-Marie-Tooth disease type 4 MONDO:0014121 autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures MONDO:0018190 Orphanet:363454 Orphanet:363447 autosomal dominant childhood-onset proximal spinal muscular atrophy MONDO:0014127 oculocutaneous albinism type 5 MONDO:0018910 Orphanet:370091 Orphanet:55 oculocutaneous albinism +MONDO:0014128 TCF12-related craniosynostosis MONDO:0015338 Orphanet:672979 Orphanet:139393 syndromic craniosynostosis MONDO:0014132 multiple mitochondrial dysfunctions syndrome 3 MONDO:0017338 Orphanet:363424 Orphanet:289573 fatal multiple mitochondrial dysfunctions syndrome MONDO:0014142 autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0015152 Orphanet:363623 Orphanet:102015 autosomal recessive limb-girdle muscular dystrophy MONDO:0014144 autosomal recessive limb-girdle muscular dystrophy type R18 MONDO:0015152 Orphanet:369840 Orphanet:102015 autosomal recessive limb-girdle muscular dystrophy @@ -2075,6 +2077,7 @@ MONDO:0014339 autosomal recessive spinocerebellar ataxia 16 MONDO:0015244 Orphan MONDO:0014349 pontocerebellar hypoplasia type 10 MONDO:0020135 Orphanet:411493 Orphanet:98523 pontocerebellar hypoplasia MONDO:0014351 pontocerebellar hypoplasia type 9 MONDO:0020135 Orphanet:369920 Orphanet:98523 pontocerebellar hypoplasia MONDO:0014353 immunodeficiency 23 MONDO:0017749 Orphanet:443811 Orphanet:309526 disorder of multiple glycosylation +MONDO:0014355 cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis MONDO:0019270 Orphanet:476096 Orphanet:79355 erythrokeratoderma MONDO:0014361 autism spectrum disorder due to AUTS2 deficiency MONDO:0015159 Orphanet:352490 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014371 developmental and epileptic encephalopathy, 23 MONDO:0015159 Orphanet:411986 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014371 developmental and epileptic encephalopathy, 23 MONDO:0015653 Orphanet:411986 Orphanet:166472 monogenic epilepsy @@ -3675,7 +3678,6 @@ MONDO:0018770 Jeune syndrome MONDO:0015461 Orphanet:474 Orphanet:1505 short rib- MONDO:0018770 Jeune syndrome MONDO:0015962 Orphanet:474 Orphanet:183592 inherited renal tubular disease MONDO:0018773 autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome MONDO:0015362 Orphanet:476093 Orphanet:140465 neuronopathy, distal hereditary motor, autosomal dominant MONDO:0018773 autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome MONDO:0018943 Orphanet:476093 Orphanet:593 myofibrillar myopathy -MONDO:0018774 erythrokeratodermia-cardiomyopathy syndrome MONDO:0019270 Orphanet:476096 Orphanet:79355 erythrokeratoderma MONDO:0018776 demyelinating hereditary motor and sensory neuropathy MONDO:0015626 Orphanet:476116 Orphanet:166 Charcot-Marie-Tooth disease MONDO:0018777 autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome MONDO:0019280 Orphanet:476119 Orphanet:79365 hypertrichosis MONDO:0018778 intermediate Charcot-Marie-Tooth disease MONDO:0015626 Orphanet:476123 Orphanet:166 Charcot-Marie-Tooth disease @@ -3883,6 +3885,7 @@ MONDO:0019254 inborn disorder of purine or pyrimidine metabolism MONDO:0019052 O MONDO:0019256 sterol metabolism disorder MONDO:0002525 Orphanet:79226 Orphanet:309005 inherited lipid metabolism disorder MONDO:0019258 mild phenylketonuria MONDO:0009861 Orphanet:79253 Orphanet:716 phenylketonuria MONDO:0019259 classic phenylketonuria MONDO:0009861 Orphanet:79254 Orphanet:716 phenylketonuria +MONDO:0019263 autosomal erythropoietic protoporphyria MONDO:0001676 Orphanet:79278 Orphanet:659681 erythropoietic protoporphyria MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 MONDO:0017779 Orphanet:79281 Orphanet:3137 alpha-N-acetylgalactosaminidase deficiency MONDO:0019265 diazoxide-resistant focal hyperinsulinism MONDO:0017186 Orphanet:79298 Orphanet:276585 diazoxide-resistant hyperinsulinism MONDO:0019267 vitamin B12-unresponsive methylmalonic acidemia type mut- MONDO:0009612 Orphanet:79312 Orphanet:27 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency @@ -3959,7 +3962,6 @@ MONDO:0019438 AL amyloidosis MONDO:0019065 Orphanet:85443 Orphanet:69 amyloidosi MONDO:0019439 AA amyloidosis MONDO:0016345 Orphanet:85445 Orphanet:217720 non-familial restrictive cardiomyopathy MONDO:0019439 AA amyloidosis MONDO:0019065 Orphanet:85445 Orphanet:69 amyloidosis MONDO:0019440 wild type ABeta2M amyloidosis MONDO:0018590 Orphanet:85446 Orphanet:439246 ABeta2M amyloidosis -MONDO:0019441 ATTRV122I amyloidosis MONDO:0007100 Orphanet:85451 Orphanet:271861 familial amyloid neuropathy MONDO:0019443 dextro-looped transposition of the great arteries MONDO:0000153 Orphanet:860 Orphanet:216675 transposition of the great arteries MONDO:0019444 trichinellosis MONDO:0016128 Orphanet:863 Orphanet:206997 parasitic myositis MONDO:0019446 localized lichen myxedematosus MONDO:0018432 Orphanet:86795 Orphanet:402007 lichen myxedematosus @@ -4038,6 +4040,9 @@ MONDO:0019582 self-healing papular mucinosis MONDO:0019446 Orphanet:90397 Orphan MONDO:0019583 localized lichen myxedematosus with mixed features of different subtypes MONDO:0019447 Orphanet:90398 Orphanet:86797 atypical lichen myxedematosus MONDO:0019584 localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms MONDO:0019447 Orphanet:90399 Orphanet:86797 atypical lichen myxedematosus MONDO:0019585 scleromyxedema without monoclonal gammopathy MONDO:0019447 Orphanet:90400 Orphanet:86797 atypical lichen myxedematosus +MONDO:0019586 X-linked nonsyndromic hearing loss MONDO:0019497 Orphanet:90625 Orphanet:87884 nonsyndromic genetic hearing loss +MONDO:0019587 autosomal dominant nonsyndromic hearing loss MONDO:0019497 Orphanet:90635 Orphanet:87884 nonsyndromic genetic hearing loss +MONDO:0019588 hearing loss, autosomal recessive MONDO:0019497 Orphanet:90636 Orphanet:87884 nonsyndromic genetic hearing loss MONDO:0019600 xeroderma pigmentosum MONDO:0015951 Orphanet:910 Orphanet:183490 hereditary photodermatosis MONDO:0019605 immunotactoid or fibrillary glomerulopathy MONDO:0019722 Orphanet:91137 Orphanet:93548 glomerular disorder MONDO:0019607 unspecified juvenile idiopathic arthritis MONDO:0011429 Orphanet:91140 Orphanet:92 juvenile idiopathic arthritis @@ -4432,12 +4437,14 @@ MONDO:0024503 digestive system neuroendocrine neoplasm MONDO:0019496 Orphanet:10 MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 MONDO:0008891 Orphanet:572543 Orphanet:97229 riboflavin transporter deficiency MONDO:0024548 peeling skin syndrome 1 MONDO:0010033 Orphanet:263553 Orphanet:263543 generalized peeling skin syndrome MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency MONDO:0010627 Orphanet:538931 Orphanet:2442 X-linked lymphoproliferative syndrome +MONDO:0024607 congenital muscular dystrophy with cataracts and intellectual disability MONDO:0019950 Orphanet:662184 Orphanet:97242 congenital muscular dystrophy MONDO:0024609 vulvar squamous cell carcinoma MONDO:0005215 Orphanet:494448 Orphanet:494418 vulvar carcinoma MONDO:0025193 oculopharyngodistal myopathy MONDO:0016106 Orphanet:98897 Orphanet:206644 progressive muscular dystrophy MONDO:0028226 autosomal recessive severe congenital neutropenia MONDO:0018542 Orphanet:439849 Orphanet:42738 severe congenital neutropenia MONDO:0029136 muscular dystrophy, limb-girdle, autosomal recessive 23 MONDO:0015152 Orphanet:565837 Orphanet:102015 autosomal recessive limb-girdle muscular dystrophy MONDO:0030105 galactosemia 4 MONDO:0018116 Orphanet:570422 Orphanet:352 galactosemia MONDO:0030258 pontocerebellar hypoplasia, type 14 MONDO:0020135 Orphanet:613274 Orphanet:98523 pontocerebellar hypoplasia +MONDO:0030524 mucopolysaccharidosis, type 10 MONDO:0019249 Orphanet:662216 Orphanet:79213 mucopolysaccharidosis MONDO:0030899 oculocutaneous albinism type 8 MONDO:0018910 Orphanet:597733 Orphanet:55 oculocutaneous albinism MONDO:0030912 intellectual disability, autosomal dominant 47 MONDO:0015159 Orphanet:502434 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0030913 intellectual disability, autosomal dominant 48 MONDO:0015159 Orphanet:500159 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -4627,7 +4634,6 @@ MONDO:0100512 mitochondrial DNA depletion syndrome, hepatocerebral form MONDO:00 MONDO:0100527 dysplastic cortical hyperostosis, Kozlowski-Tsuruta type MONDO:0016357 Orphanet:2204 Orphanet:646139 dysplastic cortical hyperostosis MONDO:0100528 Hao-Fountain syndrome due to 16p13.2 microdeletion MONDO:0014805 Orphanet:500055 Orphanet:643549 Hao-Fountain syndrome MONDO:0100528 Hao-Fountain syndrome due to 16p13.2 microdeletion MONDO:0016894 Orphanet:500055 Orphanet:261956 partial deletion of the short arm of chromosome 16 -MONDO:0100552 ATTRV30M amyloidosis MONDO:0007100 Orphanet:85447 Orphanet:271861 familial amyloid neuropathy MONDO:0100567 hereditary angioedema with normal C1Inh MONDO:0019623 Orphanet:528647 Orphanet:91378 hereditary angioedema MONDO:0700088 paroxysmal nonkinesigenic dyskinesia MONDO:0015427 Orphanet:98810 Orphanet:1431 paroxysmal dyskinesia MONDO:0700264 type 1 interferonopathy MONDO:0019751 Orphanet:477647 Orphanet:93665 autoinflammatory syndrome @@ -4648,6 +4654,7 @@ MONDO:0859003 PAICS deficiency MONDO:0019236 Orphanet:633099 Orphanet:79191 inbo MONDO:0859007 mosaic Legius syndrome MONDO:0019289 Orphanet:634511 Orphanet:79375 hyperpigmentation of the skin MONDO:0859008 neurofibromatosis/schwannomatosis MONDO:0015356 Orphanet:634518 Orphanet:140162 hereditary neoplastic syndrome MONDO:0859147 Marbach-Rustad progeroid syndrome MONDO:0015333 Orphanet:659873 Orphanet:139033 progeroid syndrome +MONDO:0859267 tumor predisposition syndrome 2 MONDO:0015356 Orphanet:661526 Orphanet:140162 hereditary neoplastic syndrome MONDO:0859692 immune-mediated cerebellar ataxia MONDO:0016593 Orphanet:623638 Orphanet:247242 acquired ataxia MONDO:0859761 SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome MONDO:0859000 Orphanet:633021 Orphanet:633014 SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome MONDO:0859762 SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome MONDO:0859000 Orphanet:633024 Orphanet:633014 SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome @@ -4728,5 +4735,34 @@ MONDO:0970962 terminal myelocystocele MONDO:0017077 Orphanet:645337 Orphanet:268 MONDO:0970962 terminal myelocystocele MONDO:0968988 Orphanet:645337 Orphanet:645319 saccular spinal dysraphism with a stalk to the dome MONDO:0970963 saccular limited dorsal myeloschisis MONDO:0968988 Orphanet:645354 Orphanet:645319 saccular spinal dysraphism with a stalk to the dome MONDO:0970964 myelic limited dorsal malformation MONDO:0968988 Orphanet:645378 Orphanet:645319 saccular spinal dysraphism with a stalk to the dome +MONDO:0971047 PRC-2 complex-related overgrowth spectrum MONDO:0015159 Orphanet:659387 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0971047 PRC-2 complex-related overgrowth spectrum MONDO:0019716 Orphanet:659387 Orphanet:93460 overgrowth syndrome +MONDO:0971049 single isolated optic neuritis MONDO:0044688 Orphanet:659626 Orphanet:499096 isolated optic neuritis +MONDO:0971050 relapsing isolated optic neuritis MONDO:0044688 Orphanet:659634 Orphanet:499096 isolated optic neuritis +MONDO:0971058 verruga peruana MONDO:0018984 Orphanet:659759 Orphanet:64692 Oroya fever +MONDO:0971062 developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation MONDO:0859257 Orphanet:660012 Orphanet:660017 intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism +MONDO:0971063 autosomal dominant dopa-responsive dystonia MONDO:0016812 Orphanet:98808 Orphanet:255 dopa-responsive dystonia +MONDO:0971064 orofacial clefting-cardiac anomalies-facial dysmorphism syndrome MONDO:0015159 Orphanet:660021 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0971066 megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency MONDO:0017313 Orphanet:661412 Orphanet:285657 disorder of folate metabolism and transport +MONDO:0971068 Phelan-McDermid syndrome due to 22q13.3 deletion MONDO:0011652 Orphanet:662169 Orphanet:48652 Phelan-McDermid syndrome +MONDO:0971068 Phelan-McDermid syndrome due to 22q13.3 deletion MONDO:0022760 Orphanet:662169 Orphanet:262182 chromosome 22q deletion +MONDO:0971069 Phelan-McDermid syndrome due to SHANK3 mutation MONDO:0011652 Orphanet:662172 Orphanet:48652 Phelan-McDermid syndrome +MONDO:0971077 episodic memory defect leukoencephalopathy MONDO:0019046 Orphanet:662229 Orphanet:68356 leukodystrophy +MONDO:0971091 acute megakaryoblastic leukemia in adult MONDO:0018872 Orphanet:662934 Orphanet:518 acute megakaryoblastic leukemia +MONDO:0971092 soft and hard cleft palate MONDO:0016064 Orphanet:664372 Orphanet:2014 cleft palate +MONDO:0971094 cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation MONDO:0016460 Orphanet:664401 Orphanet:228410 polyvalvular heart disease syndrome +MONDO:0971095 6q25.1 microdeletion syndrome MONDO:0016460 Orphanet:664404 Orphanet:228410 polyvalvular heart disease syndrome +MONDO:0971095 6q25.1 microdeletion syndrome MONDO:0016905 Orphanet:664404 Orphanet:262047 partial deletion of the long arm of chromosome 6 +MONDO:0971107 common arterial trunk with aortic dominance MONDO:0018072 Orphanet:665044 Orphanet:3384 persistent truncus arteriosus +MONDO:0971108 common arterial trunk with pulmonary dominance and interrupted aortic arch MONDO:0018072 Orphanet:665058 Orphanet:3384 persistent truncus arteriosus +MONDO:0971118 pilocytic astrocytoma with histological features of anaplasia MONDO:0016691 Orphanet:673585 Orphanet:251612 pilocytic astrocytoma +MONDO:0971133 isolated segmental infantile hemangioma MONDO:0016223 Orphanet:675380 Orphanet:210589 infantile hemangioma of rare localization +MONDO:0971137 severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome MONDO:0015159 Orphanet:675775 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0971138 progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN MONDO:0015159 Orphanet:675782 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0971138 progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN MONDO:0017739 Orphanet:675782 Orphanet:309340 disorder of lysosomal-related organelles +MONDO:0971141 localized pleural mesothelioma MONDO:0006292 Orphanet:675833 Orphanet:50251 malignant mesothelioma +MONDO:0971142 diffused pleural mesothelioma MONDO:0006292 Orphanet:675837 Orphanet:50251 malignant mesothelioma +MONDO:0971143 pleural mesothelioma in situ MONDO:0006292 Orphanet:675841 Orphanet:50251 malignant mesothelioma +MONDO:0971154 hepatic cutaneous porphyria MONDO:0002520 Orphanet:659698 Orphanet:659694 hepatic porphyria MONDO:8000008 Martsolf syndrome 1 MONDO:0015159 Orphanet:1387 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive MONDO:0017574 Orphanet:99811 Orphanet:2978 chronic intestinal pseudoobstruction diff --git a/src/ontology/reports/ordo_mapping_status.tsv b/src/ontology/reports/ordo_mapping_status.tsv index c6b99f0e8..cf24cd0f3 100644 --- a/src/ontology/reports/ordo_mapping_status.tsv +++ b/src/ontology/reports/ordo_mapping_status.tsv @@ -38,34 +38,8 @@ Orphanet:409979 <1 / 1 000 000 False False False Orphanet:409980 >1 / 1000 False False False Orphanet:409981 Unknown_epidemiological_range False False False Orphanet:557495 category False False False -Orphanet:659387 PRC-2 complex-related overgrowth spectrum False False False -Orphanet:659609 Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome False False False -Orphanet:659626 Single isolated optic neuritis False False False -Orphanet:659634 Relapsing isolated optic neuritis False False False -Orphanet:659681 Erythropoietic porphyria False False False -Orphanet:659698 Hepatic cutaneous porphyria False False False -Orphanet:659702 Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome False False False Orphanet:659707 Yersinia pseudotuberculosis infection False False False Orphanet:659712 Rare yersiniosis False False False -Orphanet:659744 Ocular surface squamous neoplasia False False False -Orphanet:659759 Verruga peruana False False False -Orphanet:659904 Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome False False False -Orphanet:659975 Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome False False False -Orphanet:660012 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation False False False -Orphanet:660017 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome False False False -Orphanet:660021 Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome False False False -Orphanet:661412 Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency False False False -Orphanet:661526 MBD4-related tumor predisposition syndrome False False False -Orphanet:662169 Phelan-McDermid syndrome due to 22q13.3 deletion False False False -Orphanet:662172 Phelan-McDermid syndrome due to SHANK3 mutation False False False -Orphanet:662175 Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome False False False -Orphanet:662179 Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome False False False -Orphanet:662184 Congenital muscular dystrophy-cataract-intellectual disability syndrome False False False -Orphanet:662189 Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome False False False -Orphanet:662198 Neurodevelopmental delay-intellectual disability-skeletal defects syndrome False False False -Orphanet:662216 Mucopolysaccharidosis type 10 False False False -Orphanet:662229 Episodic memory defect leukoencephalopathy False False False -Orphanet:662255 Grisel syndrome False False False Orphanet:662376 Gastric duplication False False False Orphanet:662388 Gallbladder duplication False False False Orphanet:662392 Colonic duplication False False False @@ -73,18 +47,8 @@ Orphanet:662405 Pyloric duplication False False False Orphanet:662456 Small intestine duplication False False False Orphanet:662473 Duodenal duplication False False False Orphanet:662480 Jujeno-ileal duplication False False False -Orphanet:662721 Placenta accreta spectrum disorder False False False -Orphanet:662762 Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome False False False Orphanet:662786 Vasa previa False False False -Orphanet:662829 Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome False False False -Orphanet:662934 Acute megakaryoblastic leukemia in adult False False False -Orphanet:664372 Soft and hard cleft palate False False False -Orphanet:664377 MGP-related spondyloepiphyseal dysplasia False False False -Orphanet:664401 Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation False False False -Orphanet:664404 6q25.1 microdeletion syndrome False False False -Orphanet:664410 Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome False False False Orphanet:664416 Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation False False False -Orphanet:664430 Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome False False False Orphanet:664450 Inherited cancer-predisposing lymphoproliferative syndrome False False False Orphanet:664456 Immune dysregulation disease with immunodeficiency associated with EBV susceptibility False False False Orphanet:664699 EBV-induced lymphoproliferative disease due to RASGRP1 deficiency False False False @@ -92,57 +56,21 @@ Orphanet:664711 EBV-induced lymphoproliferative disease due to PRKCD deficiency Orphanet:664726 EBV-induced lymphoproliferative disease due to CD137 deficiency False False False Orphanet:664729 EBV-induced lymphoproliferative disease due to TET2 deficiency False False False Orphanet:664734 EBV susceptibility with hemophagocytic lymphohistiocytosis as a major feature False False False -Orphanet:664787 Nicolau syndrome False False False -Orphanet:664912 Neonatal renal venous thrombosis False False False -Orphanet:664923 Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome False False False -Orphanet:665044 Common arterial trunk with aortic dominance False False False -Orphanet:665058 Common arterial trunk with pulmonary dominance and interrupted aortic arch False False False Orphanet:667589 Isolated congenital femoral bifurcation False False False -Orphanet:667678 Intraoral basal cell carcinoma False False False -Orphanet:672979 Craniosynostosis-facial dysmorphism-brachydactyly syndrome False False False -Orphanet:672985 Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome False False False -Orphanet:673470 Benign vascular tumor False False False -Orphanet:673473 Borderline vascular tumor False False False Orphanet:673538 Littoral cell hemangioma of the spleen False False False Orphanet:673543 Papillary hemangioma False False False Orphanet:673556 Pseudomyogenic hemangioendothelioma False False False Orphanet:673568 Eccrine angiomatous hamartoma False False False Orphanet:673574 Reactive angioendotheliomatosis False False False -Orphanet:673585 Pilocytic astrocytoma with histological features of anaplasia False False False -Orphanet:674499 Proteoglycan-related bone disorder False False False Orphanet:674648 Syndrome with congenital phagocyte functional defect as a major feature False False False Orphanet:674653 Actinomyopathy-associated syndromic thrombocytopenia False False False -Orphanet:674762 Early-onset autoinflammatory syndrome due to A20 haploinsufficiency False False False Orphanet:674896 Non-syndromic congenital phagocyte functional defect False False False -Orphanet:674924 Isolated retinal racemose hemangioma False False False -Orphanet:674930 Perifoveal exudative vascular anomalous complex False False False -Orphanet:674935 Torpedo Maculopathy False False False -Orphanet:674943 Isolated angioid streaks False False False -Orphanet:674947 Diffuse unilateral subacute neuroretinitis False False False -Orphanet:674953 Multiple evanescent white dot syndrome False False False -Orphanet:674958 Stellate multiform amelanotic choroidopathy False False False -Orphanet:674965 Choroidal osteoma False False False -Orphanet:674968 Bilateral diffuse uveal melanocytic proliferation disease False False False -Orphanet:675216 Spinocerebellar ataxia type 27B False False False Orphanet:675359 Anastomosing haemangioma False False False Orphanet:675369 Microvenular haemangioma False False False -Orphanet:675380 Isolated segmental infantile hemangioma False False False Orphanet:675597 Acquired elastotic haemangioma False False False -Orphanet:675628 TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome False False False -Orphanet:675767 Severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to SRP54 deficiency False False False -Orphanet:675775 Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome False False False -Orphanet:675782 Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN False False False -Orphanet:675814 Adenomatoid tumour of the pleura False False False -Orphanet:675822 Well-differentiated papillary mesothelial tumour of the pleura False False False -Orphanet:675833 Localized pleural mesothelioma False False False -Orphanet:675837 Diffused pleural mesothelioma False False False -Orphanet:675841 Pleural mesothelioma in situ False False False Orphanet:675976 Adenomatoid tumour of the peritoneum False False False Orphanet:676030 Primary benign peritoneal tumor False False False Orphanet:676033 Well-differentiated papillary mesothelial tumour of the peritoneum False False False -Orphanet:676036 Peritoneal mesothelioma in situ False False False -Orphanet:676039 Combined immunodeficiency due to FOXN1 haploinsufficiency False False False -Orphanet:676125 X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency False False False Orphanet:C003 epidemiology False False False Orphanet:C004 prevalence False False False Orphanet:C005 inheritance False False False @@ -12992,28 +12920,69 @@ Orphanet:658917 Clonorchiasis True False False Orphanet:658946 Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency True False False Orphanet:658951 Early-onset immune dysregulation due to DOCK11 complete deficiency True False False Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques True False False +Orphanet:659387 PRC-2 complex-related overgrowth spectrum True False False Orphanet:659396 Cohen-Gibson syndrome True False False Orphanet:659463 Imagawa-Matsumoto syndrome True False False +Orphanet:659609 Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome True False False +Orphanet:659626 Single isolated optic neuritis True False False +Orphanet:659634 Relapsing isolated optic neuritis True False False Orphanet:659642 Rauch-Steindl syndrome True False False Orphanet:659672 Harderoporphyria True False False +Orphanet:659681 Erythropoietic porphyria True False False Orphanet:659694 Hepatic porphyria True False False +Orphanet:659698 Hepatic cutaneous porphyria True False False +Orphanet:659702 Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome True False False +Orphanet:659744 Ocular surface squamous neoplasia True False False Orphanet:659756 Oroya fever True False False +Orphanet:659759 Verruga peruana True False False Orphanet:659873 Wormian bones-micrognathia-abnormal dentition-progeroid syndrome True False False +Orphanet:659904 Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome True False False Orphanet:659908 Glanders True False False +Orphanet:659975 Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome True False False Orphanet:660 Omphalocele True False False +Orphanet:660012 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation True False False +Orphanet:660017 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome True False False +Orphanet:660021 Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome True False False Orphanet:660053 Psittacosis True False False Orphanet:661 Congenital central hypoventilation syndrome True False False +Orphanet:661412 Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency True False False +Orphanet:661526 MBD4-related tumor predisposition syndrome True False False Orphanet:662 Yellow nail syndrome True False False +Orphanet:662169 Phelan-McDermid syndrome due to 22q13.3 deletion True False False +Orphanet:662172 Phelan-McDermid syndrome due to SHANK3 mutation True False False +Orphanet:662175 Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome True False False +Orphanet:662179 Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome True False False +Orphanet:662184 Congenital muscular dystrophy-cataract-intellectual disability syndrome True False False +Orphanet:662189 Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome True False False +Orphanet:662198 Neurodevelopmental delay-intellectual disability-skeletal defects syndrome True False False Orphanet:662207 Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome True False False +Orphanet:662216 Mucopolysaccharidosis type 10 True False False +Orphanet:662229 Episodic memory defect leukoencephalopathy True False False Orphanet:662234 Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome True False False Orphanet:662240 Frey syndrome True False False +Orphanet:662255 Grisel syndrome True False False Orphanet:662367 NESCAV syndrome True False False +Orphanet:662721 Placenta accreta spectrum disorder True False False +Orphanet:662762 Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome True False False +Orphanet:662829 Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome True False False +Orphanet:662934 Acute megakaryoblastic leukemia in adult True False False Orphanet:663 Mitochondrial DNA-related progressive external ophthalmoplegia True False False Orphanet:664 Ornithine transcarbamylase deficiency True False False +Orphanet:664372 Soft and hard cleft palate True False False +Orphanet:664377 MGP-related spondyloepiphyseal dysplasia True False False +Orphanet:664401 Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation True False False +Orphanet:664404 6q25.1 microdeletion syndrome True False False +Orphanet:664410 Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome True False False +Orphanet:664430 Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome True False False Orphanet:664438 Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome True False False Orphanet:664500 Hermansky-Pudlak syndrome due to AP3B1 deficiency True False False Orphanet:664511 Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency True False False +Orphanet:664787 Nicolau syndrome True False False Orphanet:664901 Trigeminal trophic syndrome True False False +Orphanet:664912 Neonatal renal venous thrombosis True False False +Orphanet:664923 Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome True False False +Orphanet:665044 Common arterial trunk with aortic dominance True False False +Orphanet:665058 Common arterial trunk with pulmonary dominance and interrupted aortic arch True False False Orphanet:66518 Short fifth metacarpals-insulin resistance syndrome True False False Orphanet:66529 Tako-Tsubo cardiomyopathy True False False Orphanet:666 Osteogenesis imperfecta True False False @@ -13032,6 +13001,7 @@ Orphanet:66661 Mast cell sarcoma True False False Orphanet:66662 Extracutaneous mastocytoma True False False Orphanet:667 Autosomal recessive malignant osteopetrosis True False False Orphanet:667662 Breast implant-associated anaplastic large cell lymphoma True False False +Orphanet:667678 Intraoral basal cell carcinoma True False False Orphanet:668 Osteosarcoma True False False Orphanet:67 Amoebiasis due to Entamoeba histolytica True False False Orphanet:67036 Autosomal dominant optic atrophy and cataract True False False @@ -13047,16 +13017,46 @@ Orphanet:67047 3-methylglutaconic aciduria type 3 True False False Orphanet:67048 3-methylglutaconic aciduria type 4 True False False Orphanet:671 Primary cutis verticis gyrata True False False Orphanet:672 Pallister-Hall syndrome True False False +Orphanet:672979 Craniosynostosis-facial dysmorphism-brachydactyly syndrome True False False +Orphanet:672985 Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome True False False Orphanet:673 Malaria True False False Orphanet:673466 Malignant vascular tumor True False False +Orphanet:673470 Benign vascular tumor True False False +Orphanet:673473 Borderline vascular tumor True False False Orphanet:673525 Intravascular papillary endothelial hyperplasia True False False Orphanet:673580 Classic pilocytic astrocytoma True False False +Orphanet:673585 Pilocytic astrocytoma with histological features of anaplasia True False False Orphanet:674 Accessory pancreas True False False +Orphanet:674499 Proteoglycan-related bone disorder True False False +Orphanet:674762 Early-onset autoinflammatory syndrome due to A20 haploinsufficiency True False False +Orphanet:674924 Isolated retinal racemose hemangioma True False False +Orphanet:674930 Perifoveal exudative vascular anomalous complex True False False +Orphanet:674935 Torpedo Maculopathy True False False +Orphanet:674943 Isolated angioid streaks True False False +Orphanet:674947 Diffuse unilateral subacute neuroretinitis True False False +Orphanet:674953 Multiple evanescent white dot syndrome True False False +Orphanet:674958 Stellate multiform amelanotic choroidopathy True False False +Orphanet:674965 Choroidal osteoma True False False +Orphanet:674968 Bilateral diffuse uveal melanocytic proliferation disease True False False Orphanet:675 Annular pancreas True False False +Orphanet:675216 Spinocerebellar ataxia type 27B True False False Orphanet:675362 Hobnail hemangioma True False False +Orphanet:675380 Isolated segmental infantile hemangioma True False False Orphanet:675396 Epithelioid hemangioma True False False Orphanet:675404 May-Thurner syndrome True False False +Orphanet:675628 TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome True False False +Orphanet:675767 Severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to SRP54 deficiency True False False +Orphanet:675775 Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome True False False +Orphanet:675782 Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN True False False +Orphanet:675814 Adenomatoid tumour of the pleura True False False +Orphanet:675822 Well-differentiated papillary mesothelial tumour of the pleura True False False +Orphanet:675833 Localized pleural mesothelioma True False False +Orphanet:675837 Diffused pleural mesothelioma True False False +Orphanet:675841 Pleural mesothelioma in situ True False False Orphanet:676 Hereditary chronic pancreatitis True False False +Orphanet:676036 Peritoneal mesothelioma in situ True False False +Orphanet:676039 Combined immunodeficiency due to FOXN1 haploinsufficiency True False False +Orphanet:676125 X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency True False False Orphanet:677 Pancreatoblastoma True False False Orphanet:678 Papillon-Lefèvre syndrome True False False Orphanet:679 Malignant atrophic papulosis True False False diff --git a/src/ontology/reports/ordo_unmapped_terms.tsv b/src/ontology/reports/ordo_unmapped_terms.tsv index 25b53aada..5d693e59a 100644 --- a/src/ontology/reports/ordo_unmapped_terms.tsv +++ b/src/ontology/reports/ordo_unmapped_terms.tsv @@ -3,114 +3,42 @@ Orphanet:409975 1-5 / 10 000 Orphanet:409976 1-9 / 1 000 000 Orphanet:409977 1-9 / 100 000 Orphanet:409978 6-9 / 10 000 -Orphanet:664404 6q25.1 microdeletion syndrome Orphanet:409979 <1 / 1 000 000 Orphanet:409980 >1 / 1000 Orphanet:675597 Acquired elastotic haemangioma Orphanet:674653 Actinomyopathy-associated syndromic thrombocytopenia -Orphanet:662934 Acute megakaryoblastic leukemia in adult Orphanet:675976 Adenomatoid tumour of the peritoneum -Orphanet:675814 Adenomatoid tumour of the pleura Orphanet:675359 Anastomosing haemangioma -Orphanet:673470 Benign vascular tumor -Orphanet:674968 Bilateral diffuse uveal melanocytic proliferation disease -Orphanet:673473 Borderline vascular tumor -Orphanet:664410 Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome Orphanet:664416 Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation -Orphanet:664401 Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation -Orphanet:674965 Choroidal osteoma Orphanet:662392 Colonic duplication -Orphanet:676039 Combined immunodeficiency due to FOXN1 haploinsufficiency -Orphanet:665044 Common arterial trunk with aortic dominance -Orphanet:665058 Common arterial trunk with pulmonary dominance and interrupted aortic arch -Orphanet:664923 Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome -Orphanet:662184 Congenital muscular dystrophy-cataract-intellectual disability syndrome -Orphanet:672979 Craniosynostosis-facial dysmorphism-brachydactyly syndrome -Orphanet:672985 Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome -Orphanet:660017 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome -Orphanet:660012 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation -Orphanet:674947 Diffuse unilateral subacute neuroretinitis -Orphanet:675837 Diffused pleural mesothelioma Orphanet:662473 Duodenal duplication Orphanet:664734 EBV susceptibility with hemophagocytic lymphohistiocytosis as a major feature Orphanet:664726 EBV-induced lymphoproliferative disease due to CD137 deficiency Orphanet:664711 EBV-induced lymphoproliferative disease due to PRKCD deficiency Orphanet:664699 EBV-induced lymphoproliferative disease due to RASGRP1 deficiency Orphanet:664729 EBV-induced lymphoproliferative disease due to TET2 deficiency -Orphanet:674762 Early-onset autoinflammatory syndrome due to A20 haploinsufficiency Orphanet:673568 Eccrine angiomatous hamartoma -Orphanet:662229 Episodic memory defect leukoencephalopathy -Orphanet:659681 Erythropoietic porphyria -Orphanet:659609 Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome Orphanet:662388 Gallbladder duplication Orphanet:662376 Gastric duplication -Orphanet:662255 Grisel syndrome -Orphanet:659698 Hepatic cutaneous porphyria Orphanet:664456 Immune dysregulation disease with immunodeficiency associated with EBV susceptibility Orphanet:664450 Inherited cancer-predisposing lymphoproliferative syndrome -Orphanet:662829 Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome -Orphanet:667678 Intraoral basal cell carcinoma -Orphanet:659702 Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome -Orphanet:674943 Isolated angioid streaks Orphanet:667589 Isolated congenital femoral bifurcation -Orphanet:674924 Isolated retinal racemose hemangioma -Orphanet:675380 Isolated segmental infantile hemangioma Orphanet:662480 Jujeno-ileal duplication Orphanet:673538 Littoral cell hemangioma of the spleen -Orphanet:675833 Localized pleural mesothelioma -Orphanet:661526 MBD4-related tumor predisposition syndrome -Orphanet:664377 MGP-related spondyloepiphyseal dysplasia -Orphanet:662175 Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome -Orphanet:661412 Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency -Orphanet:662179 Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome Orphanet:675369 Microvenular haemangioma -Orphanet:662762 Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome -Orphanet:662216 Mucopolysaccharidosis type 10 -Orphanet:659904 Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome -Orphanet:674953 Multiple evanescent white dot syndrome -Orphanet:664912 Neonatal renal venous thrombosis -Orphanet:662198 Neurodevelopmental delay-intellectual disability-skeletal defects syndrome -Orphanet:662189 Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome -Orphanet:664430 Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome -Orphanet:664787 Nicolau syndrome Orphanet:674896 Non-syndromic congenital phagocyte functional defect -Orphanet:659744 Ocular surface squamous neoplasia -Orphanet:660021 Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome -Orphanet:659387 PRC-2 complex-related overgrowth spectrum Orphanet:673543 Papillary hemangioma -Orphanet:674930 Perifoveal exudative vascular anomalous complex -Orphanet:676036 Peritoneal mesothelioma in situ -Orphanet:662169 Phelan-McDermid syndrome due to 22q13.3 deletion -Orphanet:662172 Phelan-McDermid syndrome due to SHANK3 mutation -Orphanet:673585 Pilocytic astrocytoma with histological features of anaplasia -Orphanet:662721 Placenta accreta spectrum disorder -Orphanet:675841 Pleural mesothelioma in situ Orphanet:676030 Primary benign peritoneal tumor -Orphanet:675782 Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN -Orphanet:674499 Proteoglycan-related bone disorder Orphanet:673556 Pseudomyogenic hemangioendothelioma Orphanet:662405 Pyloric duplication Orphanet:659712 Rare yersiniosis Orphanet:673574 Reactive angioendotheliomatosis -Orphanet:659634 Relapsing isolated optic neuritis -Orphanet:659975 Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome -Orphanet:675775 Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome -Orphanet:675767 Severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to SRP54 deficiency -Orphanet:659626 Single isolated optic neuritis Orphanet:662456 Small intestine duplication -Orphanet:664372 Soft and hard cleft palate -Orphanet:675216 Spinocerebellar ataxia type 27B -Orphanet:674958 Stellate multiform amelanotic choroidopathy Orphanet:674648 Syndrome with congenital phagocyte functional defect as a major feature -Orphanet:675628 TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome -Orphanet:674935 Torpedo Maculopathy Orphanet:409981 Unknown_epidemiological_range Orphanet:662786 Vasa previa -Orphanet:659759 Verruga peruana Orphanet:676033 Well-differentiated papillary mesothelial tumour of the peritoneum -Orphanet:675822 Well-differentiated papillary mesothelial tumour of the pleura Orphanet:409934 X-linked dominant -Orphanet:676125 X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency Orphanet:409932 X-linked recessive Orphanet:409938 Y-linked Orphanet:659707 Yersinia pseudotuberculosis infection diff --git a/src/ontology/reports/sync-subClassOf.confirmed.tsv b/src/ontology/reports/sync-subClassOf.confirmed.tsv index 2c862ba91..701ca8b3f 100644 --- a/src/ontology/reports/sync-subClassOf.confirmed.tsv +++ b/src/ontology/reports/sync-subClassOf.confirmed.tsv @@ -93,7 +93,6 @@ MONDO:0000408 fetal alcohol spectrum disorder MONDO:0000592 DOID:0050696 DOID:00 MONDO:0000411 electroclinical syndrome MONDO:0005027 DOID:0050701 DOID:1826 epilepsy MONDO:0000412 neonatal period electroclinical syndrome MONDO:0000411 DOID:0050702 DOID:0050701 electroclinical syndrome MONDO:0000413 infancy electroclinical syndrome MONDO:0000411 DOID:0050703 DOID:0050701 electroclinical syndrome -MONDO:0000424 inborn vitamin B12 deficiency MONDO:0005528 DOID:0050731 DOID:0050718 inborn vitamin metabolic disorder MONDO:0000426 autosomal dominant disease MONDO:0000429 DOID:0050736 DOID:0050739 autosomal genetic disease MONDO:0000430 mature T-cell and NK-cell non-Hodgkin lymphoma MONDO:0015760 DOID:0050743 DOID:0081312 T-cell non-Hodgkin lymphoma MONDO:0000437 cerebellar ataxia MONDO:0002427 DOID:0050753 DOID:2786 cerebellar disorder @@ -2979,7 +2978,6 @@ MONDO:0004580 retinal degeneration MONDO:0005283 DOID:8466 DOID:5679 retinal dis MONDO:0004582 rheumatic myocarditis MONDO:0004496 DOID:8481 DOID:820 myocarditis MONDO:0004583 transient retinal arterial occlusion MONDO:0006948 DOID:8482 DOID:8483 retinal artery occlusion MONDO:0004584 maple bark strippers' lung MONDO:0002312 DOID:8484 DOID:2473 opportunistic mycosis -MONDO:0004587 hereditary night blindness MONDO:0004588 DOID:8498 DOID:8499 night blindness MONDO:0004588 night blindness MONDO:0005283 DOID:8499 DOID:5679 retinal disorder MONDO:0004591 impetigo herpetiformis MONDO:0004592 DOID:8503 DOID:8504 impetigo MONDO:0004592 impetigo MONDO:0002922 DOID:8504 DOID:4223 pyoderma @@ -3256,6 +3254,7 @@ MONDO:0004992 cancer MONDO:0005070 DOID:162 DOID:14566 neoplasm MONDO:0004993 carcinoma MONDO:0004992 DOID:305 DOID:0050687 cancer MONDO:0004994 cardiomyopathy MONDO:0005267 DOID:0050700 DOID:114 heart disorder MONDO:0004996 childhood acute myeloid leukemia MONDO:0004355 DOID:0070323 DOID:7757 childhood leukemia +MONDO:0004997 chondroblastoma MONDO:0000631 DOID:2649 DOID:0060094 bone benign neoplasm MONDO:0005002 chronic obstructive pulmonary disease MONDO:0002267 DOID:3083 DOID:2320 obstructive lung disease MONDO:0005004 clear cell adenocarcinoma MONDO:0004970 DOID:4468 DOID:299 adenocarcinoma MONDO:0005006 clear cell sarcoma of kidney MONDO:0002930 DOID:4880 DOID:4242 kidney sarcoma @@ -3821,6 +3820,7 @@ MONDO:0006452 thymic sarcomatoid carcinoma MONDO:0006451 DOID:8138 DOID:3284 thy MONDO:0006458 thymoma type B3 MONDO:0016974 DOID:7926 DOID:3282 thymoma type B MONDO:0006459 thymoma type B1 MONDO:0016974 DOID:6917 DOID:3282 thymoma type B MONDO:0006466 thyroid gland spindle cell tumor with thymus-like differentiation MONDO:0015075 DOID:0050923 DOID:3963 thyroid gland carcinoma +MONDO:0006466 thyroid gland spindle cell tumor with thymus-like differentiation MONDO:0015075 DOID:0081461 DOID:3963 thyroid gland carcinoma MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma MONDO:0015075 DOID:0080522 DOID:3963 thyroid gland carcinoma MONDO:0006469 tibial adamantinoma MONDO:0002422 DOID:6322 DOID:2775 adamantinoma MONDO:0006471 tracheal adenoid cystic carcinoma MONDO:0003184 DOID:4875 DOID:4876 trachea carcinoma @@ -3893,6 +3893,7 @@ MONDO:0006585 neurodermatitis MONDO:0002406 DOID:3309 DOID:2723 dermatitis MONDO:0006586 neurotic excoriation MONDO:0002406 DOID:9165 DOID:2723 dermatitis MONDO:0006589 occupational dermatitis MONDO:0005480 DOID:4404 DOID:2773 contact dermatitis MONDO:0006590 palmoplantar keratosis MONDO:0006566 DOID:3390 DOID:161 keratosis +MONDO:0006591 panniculitis MONDO:0003900 DOID:1526 DOID:65 connective tissue disorder MONDO:0006592 parapsoriasis MONDO:0005083 DOID:9088 DOID:8893 psoriasis MONDO:0006593 pelvic lipomatosis MONDO:0006574 DOID:3927 DOID:3153 lipomatosis MONDO:0006594 pemphigus MONDO:0019337 DOID:9182 DOID:8502 autoimmune bullous skin disease @@ -4330,6 +4331,7 @@ MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations MO MONDO:0007745 Gilbert syndrome MONDO:0002408 DOID:2739 DOID:2741 hereditary hyperbilirubinemia MONDO:0007747 isolated hyperchlorhidrosis MONDO:0006025 DOID:0111371 DOID:0050737 autosomal recessive disease MONDO:0007753 Frey syndrome MONDO:0001292 DOID:11599 DOID:11465 autonomic nervous system disorder +MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 MONDO:0968949 DOID:0070552 DOID:0080223 palmoplantar keratoderma, epidermolytic MONDO:0007762 hyperlipoproteinemia type V MONDO:0001336 DOID:1171 DOID:1168 familial hyperlipidemia MONDO:0007764 autosomal dominant osteosclerosis, Worth type MONDO:0002185 DOID:0080037 DOID:205 hyperostosis MONDO:0007784 selective pituitary resistance to thyroid hormone MONDO:0004425 DOID:0111374 DOID:7998 hyperthyroidism @@ -4459,6 +4461,7 @@ MONDO:0008244 piebaldism MONDO:0000426 DOID:3263 DOID:0050736 autosomal dominant MONDO:0008250 isolated growth hormone deficiency type II MONDO:0000050 DOID:0060872 DOID:0060870 isolated congenital growth hormone deficiency MONDO:0008259 familial spontaneous pneumothorax MONDO:0002076 DOID:0080218 DOID:1673 pneumothorax MONDO:0008263 polycystic kidney disease 1 MONDO:0004691 DOID:0110858 DOID:898 autosomal dominant polycystic kidney disease +MONDO:0008265 polycystic liver disease 1 MONDO:0000447 DOID:0060980 DOID:0050770 autosomal dominant polycystic liver disease MONDO:0008267 orofaciodigital syndrome V MONDO:0015375 DOID:0060375 DOID:4501 orofaciodigital syndrome MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli MONDO:0000426 DOID:0050787 DOID:0050736 autosomal dominant disease MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies MONDO:0020496 DOID:0090125 DOID:0112313 familial porencephaly @@ -4857,7 +4860,6 @@ MONDO:0009762 nystagmus, congenital, autosomal recessive MONDO:0005712 DOID:0111 MONDO:0009764 ocular motor apraxia, Cogan type MONDO:0005328 DOID:0080849 DOID:5614 eye disorder MONDO:0009770 3MC syndrome 1 MONDO:0017398 DOID:0060575 DOID:0060225 3MC syndrome MONDO:0009774 cloacal exstrophy MONDO:0017919 DOID:0080175 DOID:0080173 exstrophy-epispadias complex -MONDO:0009775 Oguchi disease-1 MONDO:0016293 DOID:0110712 DOID:0050534 congenital stationary night blindness MONDO:0009776 spermatogenic failure 1 MONDO:0004983 DOID:0070188 DOID:0111910 spermatogenic failure MONDO:0009779 autosomal recessive omodysplasia MONDO:0006025 DOID:0080844 DOID:0050737 autosomal recessive disease MONDO:0009779 autosomal recessive omodysplasia MONDO:0017136 DOID:0080844 DOID:0060288 omodysplasia @@ -4874,7 +4876,7 @@ MONDO:0009823 primary hyperoxaluria type 1 MONDO:0002474 DOID:0111670 DOID:2977 MONDO:0009824 primary hyperoxaluria type 2 MONDO:0002474 DOID:0111671 DOID:2977 primary hyperoxaluria MONDO:0009833 Shwachman-Diamond syndrome MONDO:0002254 DOID:0060479 DOID:225 syndromic disease MONDO:0009837 choroid plexus papilloma MONDO:0002363 DOID:2626 DOID:2615 papilloma -MONDO:0009852 hereditary intrinsic factor deficiency MONDO:0000424 DOID:0050734 DOID:0050731 inborn vitamin B12 deficiency +MONDO:0009852 hereditary intrinsic factor deficiency MONDO:0019220 DOID:0050734 DOID:0050731 inborn disorder of cobalamin metabolism and transport MONDO:0009856 Peters plus syndrome MONDO:0002254 DOID:0080201 DOID:225 syndromic disease MONDO:0009857 persistent Mullerian duct syndrome MONDO:0005518 DOID:0050791 DOID:3765 pseudohermaphroditism MONDO:0009867 lethal congenital glycogen storage disease of heart MONDO:0002412 DOID:0090101 DOID:2747 disorder of glycogen metabolism @@ -4952,7 +4954,7 @@ MONDO:0010134 Pendred syndrome MONDO:0006025 DOID:0060744 DOID:0050737 autosomal MONDO:0010135 thyroid dyshormonogenesis 3 MONDO:0010132 DOID:0112187 DOID:0112183 familial thyroid dyshormonogenesis MONDO:0010136 thyroid dyshormonogenesis 4 MONDO:0010132 DOID:0112188 DOID:0112183 familial thyroid dyshormonogenesis MONDO:0010137 thyroid dyshormonogenesis 5 MONDO:0010132 DOID:0112184 DOID:0112183 familial thyroid dyshormonogenesis -MONDO:0010149 transcobalamin II deficiency MONDO:0000424 DOID:0050818 DOID:0050731 inborn vitamin B12 deficiency +MONDO:0010149 transcobalamin II deficiency MONDO:0019220 DOID:0050818 DOID:0050731 inborn disorder of cobalamin metabolism and transport MONDO:0010150 head and neck squamous cell carcinoma MONDO:0002038 DOID:5520 DOID:1542 head and neck carcinoma MONDO:0010150 head and neck squamous cell carcinoma MONDO:0005096 DOID:5520 DOID:1749 squamous cell carcinoma MONDO:0010160 tyrosinemia type II MONDO:0004741 DOID:0050725 DOID:9275 tyrosinemia @@ -5492,6 +5494,7 @@ MONDO:0011716 acute hemorrhagic leukoencephalitis MONDO:0019383 DOID:10992 DOID: MONDO:0011718 primary ciliary dyskinesia 2 MONDO:0016575 DOID:0110626 DOID:9562 primary ciliary dyskinesia MONDO:0011720 spermatogenic failure 3 MONDO:0004983 DOID:0070168 DOID:0111910 spermatogenic failure MONDO:0011721 distal myopathy with anterior tibial onset MONDO:0018949 DOID:0111187 DOID:11720 distal myopathy +MONDO:0011724 encephalopathy due to GLUT1 deficiency MONDO:0000188 DOID:0070561 DOID:0070560 GLUT1 deficiency syndrome MONDO:0011728 benign essential blepharospasm MONDO:0000477 DOID:529 DOID:0050836 focal dystonia MONDO:0011735 hyper-IgM syndrome type 3 MONDO:0003947 DOID:0060023 DOID:0080544 hyper-IgM syndrome MONDO:0011748 Usher syndrome type 1G MONDO:0010168 DOID:0110834 DOID:0110826 Usher syndrome type 1 @@ -5543,7 +5546,6 @@ MONDO:0011881 keratosis palmoplantaris striata 3 MONDO:0018865 DOID:0081110 DOID MONDO:0011889 Charcot-Marie-Tooth disease type 2I MONDO:0018993 DOID:0110158 DOID:0050539 Charcot-Marie-Tooth disease type 2 MONDO:0011890 Charcot-Marie-Tooth disease type 1D MONDO:0019011 DOID:0110150 DOID:0050538 Charcot-Marie-Tooth disease type 1 MONDO:0011891 febrile seizures, familial, 8 MONDO:0000032 DOID:0111298 DOID:0111297 febrile seizures, familial -MONDO:0011893 autosomal dominant nonsyndromic hearing loss 52 MONDO:0019587 DOID:0110578 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0011894 Charcot-Marie-Tooth disease type 2E MONDO:0018993 DOID:0110165 DOID:0050539 Charcot-Marie-Tooth disease type 2 MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome MONDO:0019046 DOID:0060794 DOID:0060786 leukodystrophy MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H MONDO:0018993 DOID:0110166 DOID:0050539 Charcot-Marie-Tooth disease type 2 @@ -5713,6 +5715,7 @@ MONDO:0012419 age related macular degeneration 7 MONDO:0005150 DOID:0110019 DOID MONDO:0012420 autosomal recessive nonsyndromic hearing loss 49 MONDO:0019588 DOID:0110506 DOID:0050565 hearing loss, autosomal recessive MONDO:0012421 autosomal recessive nonsyndromic hearing loss 44 MONDO:0019588 DOID:0110501 DOID:0050565 hearing loss, autosomal recessive MONDO:0012427 Loeys-Dietz syndrome 2 MONDO:0018954 DOID:0070234 DOID:0050466 Loeys-Dietz syndrome +MONDO:0012430 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 MONDO:0009133 DOID:0070557 DOID:0050997 cerebellar ataxia, intellectual disability, and dysequilibrium MONDO:0012432 Joubert syndrome 5 MONDO:0018772 DOID:0111000 DOID:0050777 Joubert syndrome MONDO:0012435 3-methylglutaconic aciduria type 5 MONDO:0017359 DOID:0110000 DOID:0060336 3-methylglutaconic aciduria MONDO:0012436 neonatal diabetes mellitus with congenital hypothyroidism MONDO:0016391 DOID:0060638 DOID:11717 neonatal diabetes mellitus @@ -5743,7 +5746,9 @@ MONDO:0012497 congenital stationary night blindness autosomal dominant 3 MONDO:0 MONDO:0012497 congenital stationary night blindness autosomal dominant 3 MONDO:0016293 DOID:0110715 DOID:0050534 congenital stationary night blindness MONDO:0012498 congenital stationary night blindness autosomal dominant 1 MONDO:0016293 DOID:0110862 DOID:0050534 congenital stationary night blindness MONDO:0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome MONDO:0000429 DOID:0111160 DOID:0050739 autosomal genetic disease +MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 MONDO:0015999 DOID:0070547 DOID:0060280 primary pigmented nodular adrenocortical disease MONDO:0012507 retinal cone dystrophy 4 MONDO:0000455 DOID:0081023 DOID:0050795 cone dystrophy +MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 MONDO:0015999 DOID:0070546 DOID:0060280 primary pigmented nodular adrenocortical disease MONDO:0012510 combined oxidative phosphorylation defect type 2 MONDO:0000732 DOID:0111483 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0012511 preterm premature rupture of the membranes MONDO:0002263 DOID:0111144 DOID:229 female reproductive system disorder MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 MONDO:0000732 DOID:0111486 DOID:0060286 combined oxidative phosphorylation deficiency @@ -5845,6 +5850,7 @@ MONDO:0012796 retinitis pigmentosa 41 MONDO:0019200 DOID:0110376 DOID:10584 reti MONDO:0012797 otosclerosis 8 MONDO:0005349 DOID:0060926 DOID:12185 otosclerosis MONDO:0012799 hypertrophic cardiomyopathy 11 MONDO:0024573 DOID:0110317 DOID:0080326 familial hypertrophic cardiomyopathy MONDO:0012804 hypertrophic cardiomyopathy 12 MONDO:0024573 DOID:0110318 DOID:0080326 familial hypertrophic cardiomyopathy +MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 MONDO:0000188 DOID:0090045 DOID:0070560 GLUT1 deficiency syndrome MONDO:0012806 ectodermal dysplasia and immunodeficiency 2 MONDO:0010293 DOID:0081079 DOID:0081077 ectodermal dysplasia and immune deficiency MONDO:0012810 aneurysm, intracranial berry, 7 MONDO:0016483 DOID:0080970 DOID:0060228 intracranial berry aneurysm MONDO:0012811 aneurysm, intracranial berry, 8 MONDO:0016483 DOID:0080971 DOID:0060228 intracranial berry aneurysm @@ -5976,6 +5982,7 @@ MONDO:0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency M MONDO:0013178 congenital muscular dystrophy due to LMNA mutation MONDO:0019950 DOID:0110640 DOID:0050557 congenital muscular dystrophy MONDO:0013183 congenital stationary night blindness 1C MONDO:0016293 DOID:0110867 DOID:0050534 congenital stationary night blindness MONDO:0013186 Noonan syndrome 6 MONDO:0018997 DOID:0060584 DOID:3490 Noonan syndrome +MONDO:0013188 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 MONDO:0009133 DOID:0070558 DOID:0050997 cerebellar ataxia, intellectual disability, and dysequilibrium MONDO:0013189 trichotillomania MONDO:0001162 DOID:0050587 DOID:10937 impulse control disorder MONDO:0013195 hypertrophic cardiomyopathy 13 MONDO:0024573 DOID:0110319 DOID:0080326 familial hypertrophic cardiomyopathy MONDO:0013197 hypertrophic cardiomyopathy 14 MONDO:0024573 DOID:0110320 DOID:0080326 familial hypertrophic cardiomyopathy @@ -6002,7 +6009,6 @@ MONDO:0013249 autosomal recessive nonsyndromic hearing loss 84A MONDO:0019588 DO MONDO:0013250 autosomal recessive nonsyndromic hearing loss 85 MONDO:0019588 DOID:0110531 DOID:0050565 hearing loss, autosomal recessive MONDO:0013254 microcephaly, seizures, and developmental delay MONDO:0100062 DOID:0080457 DOID:0112202 developmental and epileptic encephalopathy MONDO:0013255 arthrogryposis, renal dysfunction, and cholestasis 2 MONDO:0017123 DOID:0111354 DOID:0050763 arthrogryposis-renal dysfunction-cholestasis syndrome -MONDO:0013259 Oguchi disease-2 MONDO:0016293 DOID:0110713 DOID:0050534 congenital stationary night blindness MONDO:0013263 retinitis pigmentosa 54 MONDO:0019200 DOID:0110364 DOID:10584 retinitis pigmentosa MONDO:0013266 intellectual disability, autosomal dominant 20 MONDO:0015802 DOID:0070050 DOID:0060307 autosomal dominant non-syndromic intellectual disability MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly MONDO:0016643 DOID:0081046 DOID:0081044 frontonasal dysplasia @@ -6168,6 +6174,7 @@ MONDO:0013610 retinitis pigmentosa 61 MONDO:0019200 DOID:0110373 DOID:10584 reti MONDO:0013611 retinitis pigmentosa 62 MONDO:0019200 DOID:0110380 DOID:10584 retinitis pigmentosa MONDO:0013612 geleophysic dysplasia 2 MONDO:0000127 DOID:0111726 DOID:0111724 geleophysic dysplasia MONDO:0013613 Leber congenital amaurosis 16 MONDO:0018998 DOID:0110118 DOID:14791 Leber congenital amaurosis +MONDO:0013616 pigmented nodular adrenocortical disease, primary, 3 MONDO:0015999 DOID:0070548 DOID:0060280 primary pigmented nodular adrenocortical disease MONDO:0013621 LAMB2-related infantile-onset nephrotic syndrome MONDO:0002350 DOID:0080380 DOID:2590 familial nephrotic syndrome MONDO:0013622 platelet-type bleeding disorder 9 MONDO:0000009 DOID:0111045 DOID:2218 inherited bleeding disorder, platelet-type MONDO:0013623 platelet-type bleeding disorder 11 MONDO:0000009 DOID:0111057 DOID:2218 inherited bleeding disorder, platelet-type @@ -6345,6 +6352,7 @@ MONDO:0014087 Smith-McCort dysplasia 2 MONDO:0015799 DOID:0081271 DOID:0060247 S MONDO:0014088 advanced sleep phase syndrome 2 MONDO:0015609 DOID:0110012 DOID:0050628 advanced sleep phase syndrome MONDO:0014093 retinitis pigmentosa 66 MONDO:0019200 DOID:0110393 DOID:10584 retinitis pigmentosa MONDO:0014098 CIDEC-related familial partial lipodystrophy MONDO:0020088 DOID:0070203 DOID:0050440 familial partial lipodystrophy +MONDO:0014104 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 MONDO:0009133 DOID:0070559 DOID:0050997 cerebellar ataxia, intellectual disability, and dysequilibrium MONDO:0014108 Fanconi anemia complementation group Q MONDO:0019391 DOID:0111093 DOID:13636 Fanconi anemia MONDO:0014112 cardiofaciocutaneous syndrome 2 MONDO:0015280 DOID:0111461 DOID:0060233 cardiofaciocutaneous syndrome MONDO:0014113 cardiofaciocutaneous syndrome 3 MONDO:0015280 DOID:0111462 DOID:0060233 cardiofaciocutaneous syndrome @@ -6448,6 +6456,7 @@ MONDO:0014350 Seckel syndrome 8 MONDO:0019342 DOID:0070009 DOID:0050569 Seckel s MONDO:0014351 pontocerebellar hypoplasia type 9 MONDO:0020135 DOID:0060278 DOID:0060264 pontocerebellar hypoplasia MONDO:0014352 abdominal obesity-metabolic syndrome 3 MONDO:0000816 DOID:0060612 DOID:0060611 abdominal obesity-metabolic syndrome MONDO:0014354 intellectual disability, autosomal recessive 43 MONDO:0019502 DOID:0081207 DOID:0060308 autosomal recessive non-syndromic intellectual disability +MONDO:0014359 pigmented nodular adrenocortical disease, primary, 4 MONDO:0015999 DOID:0070549 DOID:0060280 primary pigmented nodular adrenocortical disease MONDO:0014363 autosomal recessive nonsyndromic hearing loss 101 MONDO:0019588 DOID:0110462 DOID:0050565 hearing loss, autosomal recessive MONDO:0014365 spermatogenic failure 13 MONDO:0004983 DOID:0070182 DOID:0111910 spermatogenic failure MONDO:0014366 spermatogenic failure 14 MONDO:0004983 DOID:0070179 DOID:0111910 spermatogenic failure @@ -6656,6 +6665,7 @@ MONDO:0014854 autosomal dominant nonsyndromic hearing loss 66 MONDO:0019587 DOID MONDO:0014856 combined oxidative phosphorylation defect type 30 MONDO:0000732 DOID:0111471 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0014858 intellectual disability, autosomal dominant 43 MONDO:0015802 DOID:0070073 DOID:0060307 autosomal dominant non-syndromic intellectual disability MONDO:0014859 developmental and epileptic encephalopathy, 37 MONDO:0100062 DOID:0080435 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0014860 polycystic liver disease 2 MONDO:0000447 DOID:0060975 DOID:0050770 autosomal dominant polycystic liver disease MONDO:0014862 cerebral palsy, spastic quadriplegic, 3 MONDO:0016215 DOID:0081361 DOID:10970 spastic quadriplegic cerebral palsy MONDO:0014864 hypermanganesemia with dystonia 2 MONDO:0000214 DOID:0080537 DOID:0080535 hypermanganesemia with dystonia MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T MONDO:0018993 DOID:0110160 DOID:0050539 Charcot-Marie-Tooth disease type 2 @@ -6838,7 +6848,7 @@ MONDO:0016243 hemoglobin E disease MONDO:0019050 DOID:5379 DOID:2860 inherited h MONDO:0016244 atypical hemolytic-uremic syndrome MONDO:0003832 DOID:0080301 DOID:626 complement deficiency MONDO:0016262 leiomyosarcoma of the corpus uteri MONDO:0005210 DOID:5289 DOID:5165 uterine corpus sarcoma MONDO:0016264 autoimmune hepatitis MONDO:0000588 DOID:2048 DOID:0060031 autoimmune disorder of gastrointestinal tract -MONDO:0016293 congenital stationary night blindness MONDO:0004587 DOID:0050534 DOID:8498 hereditary night blindness +MONDO:0016293 congenital stationary night blindness MONDO:0004588 DOID:8498 DOID:8499 night blindness MONDO:0016295 neuronal ceroid lipofuscinosis MONDO:0019245 DOID:14503 DOID:9455 lysosomal lipid storage disorder MONDO:0016296 holoprosencephaly MONDO:0002254 DOID:4621 DOID:225 syndromic disease MONDO:0016296 holoprosencephaly MONDO:0002320 DOID:4621 DOID:2490 congenital nervous system disorder @@ -7097,6 +7107,7 @@ MONDO:0019193 acquired generalized lipodystrophy MONDO:0027766 DOID:0080300 DOID MONDO:0019198 sympathetic ophthalmia MONDO:0017255 DOID:12029 DOID:12030 panuveitis MONDO:0019203 acute interstitial pneumonia MONDO:0002429 DOID:2800 DOID:2797 idiopathic interstitial pneumonia MONDO:0019214 inborn carbohydrate metabolic disorder MONDO:0019052 DOID:2978 DOID:655 inborn errors of metabolism +MONDO:0019220 inborn disorder of cobalamin metabolism and transport MONDO:0005528 DOID:0050731 DOID:0050718 inborn vitamin metabolic disorder MONDO:0019228 inborn disorder of histidine metabolism MONDO:0004736 DOID:9265 DOID:9252 inborn disorder of amino acid metabolism MONDO:0019234 peroxisome biogenesis disorder MONDO:0019053 DOID:0080377 DOID:906 peroxisomal disease MONDO:0019245 lysosomal lipid storage disorder MONDO:0002561 DOID:9455 DOID:3211 lysosomal storage disease @@ -7162,8 +7173,11 @@ MONDO:0019569 Cockayne syndrome type 1 MONDO:0016006 DOID:0080907 DOID:2962 Cock MONDO:0019570 Cockayne syndrome type 2 MONDO:0016006 DOID:0080908 DOID:2962 Cockayne syndrome MONDO:0019571 autosomal dominant cutis laxa MONDO:0000426 DOID:0070142 DOID:0050736 autosomal dominant disease MONDO:0019572 autosomal recessive cutis laxa type 1 MONDO:0006025 DOID:0070144 DOID:0050737 autosomal recessive disease +MONDO:0019586 X-linked nonsyndromic hearing loss MONDO:0019497 DOID:0050566 DOID:0050563 nonsyndromic genetic hearing loss MONDO:0019587 autosomal dominant nonsyndromic hearing loss MONDO:0000426 DOID:0050564 DOID:0050736 autosomal dominant disease +MONDO:0019587 autosomal dominant nonsyndromic hearing loss MONDO:0019497 DOID:0050564 DOID:0050563 nonsyndromic genetic hearing loss MONDO:0019588 hearing loss, autosomal recessive MONDO:0006025 DOID:0050565 DOID:0050737 autosomal recessive disease +MONDO:0019588 hearing loss, autosomal recessive MONDO:0019497 DOID:0050565 DOID:0050563 nonsyndromic genetic hearing loss MONDO:0019609 Zellweger spectrum disorders MONDO:0019234 DOID:905 DOID:0080377 peroxisome biogenesis disorder MONDO:0019613 non-functioning pituitary adenoma MONDO:0006373 DOID:5715 DOID:3829 pituitary gland adenoma MONDO:0019622 non-specific interstitial pneumonia MONDO:0002429 DOID:2801 DOID:2797 idiopathic interstitial pneumonia @@ -7241,6 +7255,7 @@ MONDO:0020563 dedifferentiated liposarcoma MONDO:0005060 DOID:0080531 DOID:3382 MONDO:0020572 complex regional pain syndrome type 2 MONDO:0019369 DOID:3222 DOID:3223 complex regional pain syndrome MONDO:0020604 X-linked dominant disease MONDO:0000425 DOID:0080009 DOID:0050735 X-linked disease MONDO:0020605 X-linked recessive disease MONDO:0000425 DOID:0080012 DOID:0050735 X-linked disease +MONDO:0020655 juvenile ankylosing spondylitis MONDO:0005306 DOID:0040092 DOID:7147 ankylosing spondylitis MONDO:0020658 infiltrating ureter transitional cell carcinoma MONDO:0004030 DOID:6845 DOID:6888 ureter transitional cell carcinoma MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis MONDO:0008803 DOID:0081290 DOID:0081289 Antley-Bixler syndrome MONDO:0020712 46,XY sex reversal 1 MONDO:0010765 DOID:0111778 DOID:14448 46,XY complete gonadal dysgenesis @@ -7322,6 +7337,7 @@ MONDO:0024523 aortic valve disease 1 MONDO:0007194 DOID:0080333 DOID:0080332 fam MONDO:0024536 glucocorticoid deficiency 1 MONDO:0008733 DOID:0080621 DOID:0080620 familial glucocorticoid deficiency MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 MONDO:0008891 DOID:0080785 DOID:0050694 riboflavin transporter deficiency MONDO:0024541 trichohepatoenteric syndrome 1 MONDO:0009105 DOID:0111415 DOID:0111414 trichohepatoenteric syndrome +MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 MONDO:0009133 DOID:0070556 DOID:0050997 cerebellar ataxia, intellectual disability, and dysequilibrium MONDO:0024545 Miyoshi muscular dystrophy 1 MONDO:0009685 DOID:0070199 DOID:0070198 Miyoshi myopathy MONDO:0024550 frontometaphyseal dysplasia 1 MONDO:0015942 DOID:0111786 DOID:0111785 frontometaphyseal dysplasia MONDO:0024552 linear skin defects with multiple congenital anomalies 1 MONDO:0010672 DOID:0111808 DOID:0111875 linear skin defects with multiple congenital anomalies @@ -7585,6 +7601,7 @@ MONDO:0032794 leber congenital amaurosis 19 MONDO:0018998 DOID:0081169 DOID:1479 MONDO:0032796 hyper-IgE recurrent infection syndrome 4, autosomal recessive MONDO:0018037 DOID:0080596 DOID:0080545 hyper-IgE syndrome MONDO:0032797 myopathy, congenital, with tremor MONDO:0019952 DOID:0081348 DOID:0081337 congenital myopathy MONDO:0032799 mitochondrial DNA depletion syndrome 16 (hepatic type) MONDO:0018158 DOID:0070446 DOID:0070329 mitochondrial DNA depletion syndrome +MONDO:0032800 robinow syndrome, autosomal recessive 2 MONDO:0019978 DOID:0060974 DOID:0060254 Robinow syndrome MONDO:0032801 erythrokeratodermia variabilis et progressiva 6 MONDO:0017851 DOID:0080766 DOID:0050467 erythrokeratodermia variabilis MONDO:0032804 ectodermal dysplasia 15, hypohidrotic/hair type MONDO:0019287 DOID:0111651 DOID:2121 ectodermal dysplasia syndrome MONDO:0032808 developmental and epileptic encephalopathy, 77 MONDO:0100247 DOID:0112213 DOID:0080503 multiple congenital anomalies-hypotonia-seizures syndrome @@ -7737,6 +7754,8 @@ MONDO:0044308 bardet-biedl syndrome 21 MONDO:0015229 DOID:0081010 DOID:1935 Bard MONDO:0044309 Diamond-Blackfan anemia 16 MONDO:0015253 DOID:0111893 DOID:1339 Diamond-Blackfan anemia MONDO:0044310 Diamond-Blackfan anemia 17 MONDO:0015253 DOID:0111880 DOID:1339 Diamond-Blackfan anemia MONDO:0044313 intellectual disability, autosomal recessive 60 MONDO:0019502 DOID:0081222 DOID:0060308 autosomal recessive non-syndromic intellectual disability +MONDO:0044325 Fanconi anemia, complementation group W MONDO:0019391 DOID:0060978 DOID:13636 Fanconi anemia +MONDO:0044327 polycystic liver disease 4 with or without kidney cysts MONDO:0000447 DOID:0060977 DOID:0050770 autosomal dominant polycystic liver disease MONDO:0044330 hyperekplexia 4 MONDO:0021022 DOID:0080581 DOID:0060695 hereditary hyperekplexia MONDO:0044634 retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome MONDO:0002254 DOID:0081175 DOID:225 syndromic disease MONDO:0044723 3-methylglutaconic aciduria type 8 MONDO:0017359 DOID:0070000 DOID:0060336 3-methylglutaconic aciduria @@ -7779,6 +7798,8 @@ MONDO:0054739 Fraser syndrome 3 MONDO:0009046 DOID:0111406 DOID:0090001 Fraser s MONDO:0054740 blepharocheilodontic syndrome 1 MONDO:0007339 DOID:0080345 DOID:0080344 blepharocheilodontic syndrome MONDO:0054741 combined oxidative phosphorylation deficiency 34 MONDO:0000732 DOID:0111497 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0054742 combined oxidative phosphorylation deficiency 35 MONDO:0000732 DOID:0111464 DOID:0060286 combined oxidative phosphorylation deficiency +MONDO:0054743 polycystic liver disease 3 with or without kidney cysts MONDO:0000447 DOID:0060976 DOID:0050770 autosomal dominant polycystic liver disease +MONDO:0054748 Fanconi anemia, complementation group S MONDO:0019391 DOID:0060979 DOID:13636 Fanconi anemia MONDO:0054752 multiple synostoses syndrome 4 MONDO:0017923 DOID:0081320 DOID:0050794 multiple synostoses syndrome MONDO:0054770 orofaciodigital syndrome 18 MONDO:0015375 DOID:0060961 DOID:4501 orofaciodigital syndrome MONDO:0054776 epilepsy, familial focal, with variable foci 4 MONDO:0020310 DOID:0081424 DOID:0081420 familial focal epilepsy with variable foci @@ -7871,7 +7892,6 @@ MONDO:0700251 orofacial cleft 7 MONDO:0000358 DOID:0080400 DOID:0050567 orofacia MONDO:0800025 Teebi hypertelorism syndrome 1 MONDO:0030639 DOID:0080698 DOID:0081073 Teebi hypertelorism syndrome MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease MONDO:0001292 DOID:0060731 DOID:11465 autonomic nervous system disorder MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 MONDO:0019046 DOID:0080523 DOID:10579 leukodystrophy -MONDO:0800029 interstitial lung disease 2 MONDO:0002771 DOID:0050156 DOID:3770 pulmonary fibrosis MONDO:0800042 restrictive dermopathy 1 MONDO:0031213 DOID:0070369 DOID:0060762 restrictive dermopathy MONDO:0800044 congenital disorder of deglycosylation 1 MONDO:0019214 DOID:0060728 DOID:2978 inborn carbohydrate metabolic disorder MONDO:0800366 dyskeratosis congenita, autosomal dominant 4 MONDO:0015780 DOID:0070020 DOID:2729 dyskeratosis congenita @@ -8020,9 +8040,12 @@ MONDO:0859314 developmental and epileptic encephalopathy 108 MONDO:0100062 DOID: MONDO:0859323 combined oxidative phosphorylation deficiency 56 MONDO:0000732 DOID:0070429 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0859325 developmental and epileptic encephalopathy 109 MONDO:0100062 DOID:0070378 DOID:0112202 developmental and epileptic encephalopathy MONDO:0859327 developmental and epileptic encephalopathy 110 MONDO:0100062 DOID:0070395 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0859328 hypomagnesemia 7, renal, with or without dilated cardiomyopathy MONDO:0018100 DOID:0060972 DOID:0060879 familial primary hypomagnesemia +MONDO:0859329 mosaic variegated aneuploidy syndrome 4 MONDO:0000141 DOID:0060981 DOID:0080688 mosaic variegated aneuploidy syndrome MONDO:0859335 congenital myopathy 15 MONDO:0019952 DOID:0081347 DOID:0081337 congenital myopathy MONDO:0859337 combined oxidative phosphorylation deficiency 57 MONDO:0000732 DOID:0070430 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0859341 hypotrichosis 15 MONDO:0003037 DOID:0060968 DOID:4535 hypotrichosis +MONDO:0859346 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition MONDO:0000141 DOID:0060982 DOID:0080688 mosaic variegated aneuploidy syndrome MONDO:0859360 spinocerebellar ataxia, autosomal recessive 33 MONDO:0015244 DOID:0070414 DOID:0050950 autosomal recessive cerebellar ataxia MONDO:0859362 hyperinsulinemic hypoglycemia, familial, 8 MONDO:0005803 DOID:0081328 DOID:13317 hyperinsulinemic hypoglycemia MONDO:0859363 spastic paraplegia 79A, autosomal dominant, with ataxia MONDO:0019064 DOID:0070455 DOID:2476 hereditary spastic paraplegia @@ -8086,6 +8109,7 @@ MONDO:0957265 congenital myopathy 22B, severe fetal MONDO:0019952 DOID:0081355 D MONDO:0957274 spastic paraplegia 89, autosomal recessive MONDO:0019064 DOID:0070458 DOID:2476 hereditary spastic paraplegia MONDO:0957281 nemaline myopathy 5B, autosomal recessive, childhood-onset MONDO:0018958 DOID:0081374 DOID:3191 nemaline myopathy MONDO:0957284 nemaline myopathy 5C, autosomal dominant MONDO:0018958 DOID:0081375 DOID:3191 nemaline myopathy +MONDO:0957303 palmoplantar keratoderma, epidermolytic, 2 MONDO:0968949 DOID:0070551 DOID:0080223 palmoplantar keratoderma, epidermolytic MONDO:0957308 spastic paraplegia 90A, autosomal dominant MONDO:0019064 DOID:0070459 DOID:2476 hereditary spastic paraplegia MONDO:0957309 spastic paraplegia 90B, autosomal recessive MONDO:0019064 DOID:0070460 DOID:2476 hereditary spastic paraplegia MONDO:0957519 diffuse gastric cancer MONDO:0001056 DOID:0080763 DOID:10534 gastric cancer @@ -8368,7 +8392,6 @@ MONDO:0003713 angiokeratoma circumscriptum MONDO:0003143 icd11.foundation:225334 MONDO:0003954 angiokeratoma of Fordyce MONDO:0003143 icd11.foundation:410953318 icd11.foundation:533651286 angiokeratoma MONDO:0004495 myotonic cataract MONDO:0016107 icd11.foundation:1723425593 icd11.foundation:192087511 myotonic dystrophy MONDO:0004582 rheumatic myocarditis MONDO:0004496 icd11.foundation:1177212968 icd11.foundation:1018829714 myocarditis -MONDO:0004587 hereditary night blindness MONDO:0004588 icd11.foundation:122338861 icd11.foundation:205882698 night blindness MONDO:0004604 Hodgkin's lymphoma, lymphocytic-histiocytic predominance MONDO:0009348 icd11.foundation:352299041 icd11.foundation:1616050398 classic Hodgkin lymphoma MONDO:0004620 Hodgkin's lymphoma, lymphocytic depletion MONDO:0009348 icd11.foundation:1729182645 icd11.foundation:1616050398 classic Hodgkin lymphoma MONDO:0004633 Hodgkin's lymphoma, mixed cellularity MONDO:0009348 icd11.foundation:39515681 icd11.foundation:1616050398 classic Hodgkin lymphoma @@ -8812,6 +8835,7 @@ MONDO:0016227 hereditary episodic ataxia MONDO:0100309 icd11.foundation:42309568 MONDO:0016241 alternating hemiplegia of childhood MONDO:0016210 icd11.foundation:301329822 icd11.foundation:774373615 alternating hemiplegia MONDO:0016248 familial ovarian cancer MONDO:0008170 icd11.foundation:1484739866 icd11.foundation:685124533 ovarian cancer MONDO:0016249 hereditary site-specific ovarian cancer syndrome MONDO:0016248 icd11.foundation:123305976 icd11.foundation:1484739866 familial ovarian cancer +MONDO:0016293 congenital stationary night blindness MONDO:0004588 icd11.foundation:122338861 icd11.foundation:205882698 night blindness MONDO:0016307 Niemann-Pick disease type C, severe early infantile neurologic onset MONDO:0018982 icd11.foundation:587642791 icd11.foundation:812702125 Niemann-Pick disease type C MONDO:0016308 Niemann-Pick disease type C, late infantile neurologic onset MONDO:0018982 icd11.foundation:2075382821 icd11.foundation:812702125 Niemann-Pick disease type C MONDO:0016309 Niemann-Pick disease type C, juvenile neurologic onset MONDO:0018982 icd11.foundation:2006062681 icd11.foundation:812702125 Niemann-Pick disease type C @@ -9086,7 +9110,6 @@ MONDO:0019437 enthesitis-related juvenile idiopathic arthritis MONDO:0011429 icd MONDO:0019438 AL amyloidosis MONDO:0019065 icd11.foundation:1061366491 icd11.foundation:2078467774 amyloidosis MONDO:0019439 AA amyloidosis MONDO:0019065 icd11.foundation:570181034 icd11.foundation:2078467774 amyloidosis MONDO:0019440 wild type ABeta2M amyloidosis MONDO:0018590 icd11.foundation:499046814 icd11.foundation:448754119 ABeta2M amyloidosis -MONDO:0019441 ATTRV122I amyloidosis MONDO:0007100 icd11.foundation:1449168185 icd11.foundation:807065795 familial amyloid neuropathy MONDO:0019466 lymphomatoid granulomatosis MONDO:0018905 icd11.foundation:1890408959 icd11.foundation:1946973604 diffuse large B-cell lymphoma MONDO:0019483 methotrexate-associated lymphoproliferative disorders MONDO:0020083 icd11.foundation:1520483526 icd11.foundation:1678636940 immunodeficiency-associated lymphoproliferative disease MONDO:0019517 Waardenburg syndrome type 2 MONDO:0018094 icd11.foundation:746815303 icd11.foundation:304883627 Waardenburg syndrome @@ -9215,7 +9238,6 @@ MONDO:0100164 permanent neonatal diabetes mellitus MONDO:0016391 icd11.foundatio MONDO:0100285 extrahepatic biliary atresia MONDO:0008867 icd11.foundation:1813934523 icd11.foundation:645741117 biliary atresia MONDO:0100459 azoospermia MONDO:0005372 icd11.foundation:532688254 icd11.foundation:753457327 male infertility MONDO:0100512 mitochondrial DNA depletion syndrome, hepatocerebral form MONDO:0018158 icd11.foundation:1285620325 icd11.foundation:1159345506 mitochondrial DNA depletion syndrome -MONDO:0100552 ATTRV30M amyloidosis MONDO:0007100 icd11.foundation:1736273667 icd11.foundation:807065795 familial amyloid neuropathy MONDO:0800305 myelofibrosis with myeloid metaplasia MONDO:0009692 icd11.foundation:673220507 icd11.foundation:336704235 primary myelofibrosis MONDO:0850001 congenital neuronal ceroid lipofuscinosis MONDO:0016295 icd11.foundation:641209188 icd11.foundation:1568332253 neuronal ceroid lipofuscinosis MONDO:0850231 erythema nodosum MONDO:0006591 icd11.foundation:1628519266 icd11.foundation:1056888958 panniculitis @@ -12156,7 +12178,7 @@ MONDO:0015065 ileal neuroendocrine tumor, well differentiated, low or intermedia MONDO:0015065 ileal neuroendocrine tumor, well differentiated, low or intermediate grade MONDO:0006801 NCIT:C135092 NCIT:C3130 ileal neoplasm MONDO:0015066 neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade MONDO:0024501 NCIT:C96422 NCIT:C60709 appendix neuroendocrine neoplasm MONDO:0015067 neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor MONDO:0002882 NCIT:C135212 NCIT:C5697 colon neuroendocrine neoplasm -MONDO:0015068 neuroendocrine tumor of rectum, well differentiated, low or intermediate grade MONDO:0003646 NCIT:C135213 NCIT:C5698 rectum neuroendocrine neoplasm +MONDO:0015068 rectal neuroendocrine tumor MONDO:0003646 NCIT:C135213 NCIT:C5698 rectum neuroendocrine neoplasm MONDO:0015069 neuroendocrine tumor of the anal canal MONDO:0003504 NCIT:C96540 NCIT:C5603 anal canal neuroendocrine neoplasm MONDO:0015070 laryngeal neuroendocrine neoplasm MONDO:0021071 NCIT:C6023 NCIT:C3156 laryngeal neoplasm MONDO:0015072 liver neuroendocrine carcinoma MONDO:0018531 NCIT:C96787 NCIT:C7927 carcinoma of liver and intrahepatic biliary tract @@ -12834,7 +12856,7 @@ MONDO:0021531 fibroma of lung MONDO:0005167 NCIT:C5658 NCIT:C3041 fibroma MONDO:0021532 fibroma of prostate MONDO:0005167 NCIT:C3972 NCIT:C3041 fibroma MONDO:0021532 fibroma of prostate MONDO:0021510 NCIT:C3972 NCIT:C3613 benign neoplasm of prostate MONDO:0021534 rectal neuroendocrine tumor G1 MONDO:0006162 NCIT:C5547 NCIT:C96160 colorectal neuroendocrine tumor G1 -MONDO:0021534 rectal neuroendocrine tumor G1 MONDO:0015068 NCIT:C5547 NCIT:C135213 neuroendocrine tumor of rectum, well differentiated, low or intermediate grade +MONDO:0021534 rectal neuroendocrine tumor G1 MONDO:0015068 NCIT:C5547 NCIT:C135213 rectal neuroendocrine tumor MONDO:0021535 pancreatic neuroendocrine tumor G1 MONDO:0019954 NCIT:C95584 NCIT:C27720 pancreatic neuroendocrine tumor MONDO:0021538 verrucous carcinoma of oral cavity MONDO:0004958 NCIT:C8174 NCIT:C4833 oral cavity squamous cell carcinoma MONDO:0021538 verrucous carcinoma of oral cavity MONDO:0006006 NCIT:C8174 NCIT:C3781 verrucous carcinoma @@ -13265,7 +13287,6 @@ MONDO:0007424 autosomal dominant nonsyndromic hearing loss 1 MONDO:0019587 OMIM: MONDO:0007478 autosomal dominant Kenny-Caffey syndrome MONDO:0016516 OMIM:127000 OMIMPS:127000 Kenny-Caffey syndrome MONDO:0007483 dyschromatosis symmetrica hereditaria MONDO:0000118 OMIM:127400 OMIMPS:179850 reticulate pigment disorder MONDO:0007485 dyskeratosis congenita, autosomal dominant 1 MONDO:0015780 OMIM:127550 OMIMPS:127550 dyskeratosis congenita -MONDO:0007495 dystonia 5 MONDO:0044807 OMIM:128230 OMIMPS:128100 inherited dystonia MONDO:0007510 Clouston syndrome MONDO:0019287 OMIM:129500 OMIMPS:305100 ectodermal dysplasia syndrome MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type MONDO:0020066 OMIM:130020 OMIMPS:130000 Ehlers-Danlos syndrome MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasia type MONDO:0020066 OMIM:130060 OMIMPS:130000 Ehlers-Danlos syndrome @@ -13609,7 +13630,6 @@ MONDO:0009758 congenital stationary night blindness 1B MONDO:0016293 OMIM:257270 MONDO:0009759 mosaic variegated aneuploidy syndrome 1 MONDO:0000141 OMIM:257300 OMIMPS:257300 mosaic variegated aneuploidy syndrome MONDO:0009762 nystagmus, congenital, autosomal recessive MONDO:0005712 OMIM:257400 OMIMPS:310700 congenital nystagmus MONDO:0009770 3MC syndrome 1 MONDO:0017398 OMIM:257920 OMIMPS:257920 3MC syndrome -MONDO:0009775 Oguchi disease-1 MONDO:0016293 OMIM:258100 OMIMPS:310500 congenital stationary night blindness MONDO:0009776 spermatogenic failure 1 MONDO:0004983 OMIM:258150 OMIMPS:258150 spermatogenic failure MONDO:0009779 autosomal recessive omodysplasia MONDO:0017136 OMIM:258315 OMIMPS:258315 omodysplasia MONDO:0009783 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 MONDO:0000090 OMIM:258450 OMIMPS:157640 progressive external ophthalmoplegia with mitochondrial DNA deletions @@ -13986,7 +14006,6 @@ MONDO:0011283 mitochondrial DNA depletion syndrome 1 MONDO:0018158 OMIM:603041 O MONDO:0011285 age related macular degeneration 1 MONDO:0005150 OMIM:603075 OMIMPS:603075 age-related macular degeneration MONDO:0011286 autosomal recessive nonsyndromic hearing loss 13 MONDO:0019588 OMIM:603098 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0011291 ALG6-congenital disorder of glycosylation 1C MONDO:0005500 OMIM:603147 OMIMPS:212065 congenital disorder of glycosylation type I -MONDO:0011292 dermatitis, atopic MONDO:0004980 OMIM:603165 OMIMPS:603165 atopic eczema MONDO:0011296 Meckel syndrome, type 2 MONDO:0018921 OMIM:603194 OMIMPS:249000 Meckel syndrome MONDO:0011297 autosomal dominant nocturnal frontal lobe epilepsy 2 MONDO:0000030 OMIM:603204 OMIMPS:600513 sleep-related hypermotor epilepsy MONDO:0011300 myopia 3, autosomal dominant MONDO:0001384 OMIM:603221 OMIMPS:160700 myopia @@ -14085,7 +14104,12 @@ MONDO:0011589 microphthalmia with coloboma 2 MONDO:0000170 OMIM:605738 OMIMPS:30 MONDO:0011592 exudative vitreoretinopathy 3 MONDO:0019516 OMIM:605750 OMIMPS:133780 exudative vitreoretinopathy MONDO:0011593 seizures, benign familial infantile, 2 MONDO:0017615 OMIM:605751 OMIMPS:601764 benign familial infantile epilepsy MONDO:0011595 nonsyndromic congenital nail disorder 7 MONDO:0019284 OMIM:605779 OMIMPS:161050 inherited isolated nail anomaly +MONDO:0011596 dermatitis, atopic, 2 MONDO:0100178 OMIM:605803 OMIMPS:603165 dermatitis, atopic, susceptibility to +MONDO:0011597 dermatitis, atopic, 3 MONDO:0100178 OMIM:605804 OMIMPS:603165 dermatitis, atopic, susceptibility to +MONDO:0011598 dermatitis, atopic, 4 MONDO:0100178 OMIM:605805 OMIMPS:603165 dermatitis, atopic, susceptibility to MONDO:0011602 autosomal recessive nonsyndromic hearing loss 27 MONDO:0019588 OMIM:605818 OMIMPS:220290 hearing loss, autosomal recessive +MONDO:0011608 dermatitis, atopic, 5 MONDO:0100178 OMIM:605844 OMIMPS:603165 dermatitis, atopic, susceptibility to +MONDO:0011609 dermatitis, atopic, 6 MONDO:0100178 OMIM:605845 OMIMPS:603165 dermatitis, atopic, susceptibility to MONDO:0011616 holoprosencephaly 6 MONDO:0016296 OMIM:605934 OMIMPS:236100 holoprosencephaly MONDO:0011625 autosomal dominant nonsyndromic hearing loss 18 MONDO:0019587 OMIM:606012 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0011627 autism, susceptibility to, 5 MONDO:0020836 OMIM:606053 OMIMPS:209850 autism, susceptiblity to @@ -14695,6 +14719,7 @@ MONDO:0013095 glioma susceptibility 6 MONDO:0100242 OMIM:613031 OMIMPS:137800 gl MONDO:0013096 glioma susceptibility 7 MONDO:0100242 OMIM:613032 OMIMPS:137800 glioma susceptibility MONDO:0013097 glioma susceptibility 8 MONDO:0100242 OMIM:613033 OMIMPS:137800 glioma susceptibility MONDO:0013100 atrial fibrillation, familial, 8 MONDO:0018054 OMIM:613055 OMIMPS:608583 familial atrial fibrillation +MONDO:0013107 dermatitis, atopic, 7 MONDO:0100178 OMIM:613064 OMIMPS:603165 dermatitis, atopic, susceptibility to MONDO:0013114 autosomal dominant nonsyndromic hearing loss 50 MONDO:0019587 OMIM:613074 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0013119 autosomal recessive nonsyndromic hearing loss 77 MONDO:0019588 OMIM:613079 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0013120 46,XY sex reversal 5 MONDO:0010765 OMIM:613080 OMIMPS:400044 46,XY complete gonadal dysgenesis @@ -14768,7 +14793,6 @@ MONDO:0013253 breast-ovarian cancer, familial, susceptibility to, 3 MONDO:010052 MONDO:0013254 microcephaly, seizures, and developmental delay MONDO:0100062 OMIM:613402 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0013255 arthrogryposis, renal dysfunction, and cholestasis 2 MONDO:0017123 OMIM:613404 OMIMPS:208085 arthrogryposis-renal dysfunction-cholestasis syndrome MONDO:0013258 autism, susceptibility to, 16 MONDO:0020836 OMIM:613410 OMIMPS:209850 autism, susceptiblity to -MONDO:0013259 Oguchi disease-2 MONDO:0016293 OMIM:613411 OMIMPS:310500 congenital stationary night blindness MONDO:0013261 dilated cardiomyopathy 1R MONDO:0018901 OMIM:613424 OMIMPS:604169 left ventricular noncompaction MONDO:0013262 dilated cardiomyopathy 1S MONDO:0018901 OMIM:613426 OMIMPS:604169 left ventricular noncompaction MONDO:0013263 retinitis pigmentosa 54 MONDO:0019200 OMIM:613428 OMIMPS:268000 retinitis pigmentosa @@ -14787,6 +14811,8 @@ MONDO:0013284 immunodeficiency, common variable, 4 MONDO:0015517 OMIM:613494 OMI MONDO:0013285 immunodeficiency, common variable, 5 MONDO:0015517 OMIM:613495 OMIMPS:607594 common variable immunodeficiency MONDO:0013286 immunodeficiency, common variable, 6 MONDO:0015517 OMIM:613496 OMIMPS:607594 common variable immunodeficiency MONDO:0013293 isolated microphthalmia 6 MONDO:0000062 OMIM:613517 OMIMPS:251600 isolated microphthalmia +MONDO:0013294 dermatitis, atopic, 8 MONDO:0100178 OMIM:613518 OMIMPS:603165 dermatitis, atopic, susceptibility to +MONDO:0013295 dermatitis, atopic, 9 MONDO:0100178 OMIM:613519 OMIMPS:603165 dermatitis, atopic, susceptibility to MONDO:0013297 autosomal dominant limb-girdle muscular dystrophy type 1H MONDO:0015151 OMIM:613530 OMIMPS:603511 muscular dystrophy, limb-girdle, autosomal dominant MONDO:0013302 nephronophthisis 11 MONDO:0019005 OMIM:613550 OMIMPS:256100 nephronophthisis MONDO:0013305 autosomal dominant nonsyndromic hearing loss 51 MONDO:0019587 OMIM:613558 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss @@ -14999,7 +15025,6 @@ MONDO:0013683 vesicoureteral reflux 5 MONDO:0017329 OMIM:614318 OMIMPS:193000 fa MONDO:0013684 vesicoureteral reflux 6 MONDO:0017329 OMIM:614319 OMIMPS:193000 familial vesicoureteral reflux MONDO:0013689 ovarian dysgenesis 3 MONDO:0009299 OMIM:614324 OMIMPS:233300 46 XX gonadal dysgenesis MONDO:0013691 Feingold syndrome type 2 MONDO:0015267 OMIM:614326 OMIMPS:164280 Feingold syndrome -MONDO:0013693 inflammatory skin and bowel disease, neonatal, 1 MONDO:0017411 OMIM:614328 OMIMPS:614328 neonatal inflammatory skin and bowel disease MONDO:0013694 intellectual disability, autosomal recessive 31 MONDO:0019502 OMIM:614329 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0013695 colorectal cancer, hereditary nonpolyposis, type 6 MONDO:0018630 OMIM:614331 OMIMPS:120435 hereditary nonpolyposis colon cancer MONDO:0013697 intellectual disability, autosomal recessive 29 MONDO:0019502 OMIM:614333 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability @@ -15440,7 +15465,6 @@ MONDO:0014474 autosomal recessive limb-girdle muscular dystrophy type 2U MONDO:0 MONDO:0014476 episodic ataxia type 8 MONDO:0016227 OMIM:616055 OMIMPS:160120 hereditary episodic ataxia MONDO:0014478 mirror movements 3 MONDO:0016558 OMIM:616059 OMIMPS:157600 familial congenital mirror movements MONDO:0014480 46,XY sex reversal 9 MONDO:0010765 OMIM:616067 OMIMPS:400044 46,XY complete gonadal dysgenesis -MONDO:0014481 inflammatory skin and bowel disease, neonatal, 2 MONDO:0017411 OMIM:616069 OMIMPS:614328 neonatal inflammatory skin and bowel disease MONDO:0014484 microcephaly 12, primary, autosomal recessive MONDO:0016660 OMIM:616080 OMIMPS:251200 autosomal recessive primary microcephaly MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency MONDO:0000173 OMIM:616094 OMIMPS:609308 muscular dystrophy-dystroglycanopathy, type C MONDO:0014496 mitochondrial complex III deficiency nuclear type 9 MONDO:0020811 OMIM:616111 OMIMPS:124000 mitochondrial complex III deficiency, nuclear type @@ -16876,6 +16900,7 @@ MONDO:0957780 developmental and epileptic encephalopathy 111 MONDO:0100062 OMIM: MONDO:0957788 spastic paraplegia 18a, autosomal dominant MONDO:0019064 OMIM:620512 OMIMPS:303350 hereditary spastic paraplegia MONDO:0957809 neutropenia, severe congenital, 10, autosomal recessive MONDO:0018542 OMIM:620534 OMIMPS:202700 severe congenital neutropenia MONDO:0957812 developmental and epileptic encephalopathy 112 MONDO:0100062 OMIM:620537 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0957813 spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia MONDO:0019064 OMIM:620538 OMIMPS:303350 hereditary spastic paraplegia MONDO:0957819 arthrogryposis, distal, type 12 MONDO:0019942 OMIM:620545 OMIMPS:108120 distal arthrogryposis MONDO:0957820 congenital disorder of glycosylation, type IIbb MONDO:0005501 OMIM:620546 OMIMPS:212066 congenital disorder of glycosylation type II MONDO:0957821 spermatogenic failure 88 MONDO:0004983 OMIM:620547 OMIMPS:258150 spermatogenic failure @@ -17001,6 +17026,7 @@ MONDO:0971151 immunodeficiency 122 MONDO:0021094 OMIM:620869 OMIMPS:300755 immun MONDO:0971152 hearing loss, autosomal recessive 125 MONDO:0019588 OMIM:620877 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0971171 muscular dystrophy, limb-girdle, autosomal recessive 29 MONDO:0015152 OMIM:620793 OMIMPS:253600 autosomal recessive limb-girdle muscular dystrophy MONDO:0971174 multiple mitochondrial dysfunctions syndrome 9b MONDO:0017338 OMIM:620887 OMIMPS:605711 fatal multiple mitochondrial dysfunctions syndrome +MONDO:0971177 immunodeficiency 123 with HPV-related verrucosis MONDO:0021094 OMIM:620901 OMIMPS:300755 immunodeficiency disease MONDO:8000006 WHIM syndrome 1 MONDO:0023880 OMIM:193670 OMIMPS:193670 WHIM syndrome MONDO:8000008 Martsolf syndrome 1 MONDO:0023910 OMIM:212720 OMIMPS:212720 Martsolf syndrome MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive MONDO:0023961 OMIM:243180 OMIMPS:243180 visceral neuropathy, familial @@ -17025,6 +17051,7 @@ MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia MONDO:0020099 MONDO:0001347 facioscapulohumeral muscular dystrophy MONDO:0016106 Orphanet:269 Orphanet:206644 progressive muscular dystrophy MONDO:0001569 acoustic neuroma MONDO:0002546 Orphanet:252175 Orphanet:252164 schwannoma MONDO:0001586 mucopolysaccharidosis type 1 MONDO:0019249 Orphanet:579 Orphanet:79213 mucopolysaccharidosis +MONDO:0001676 erythropoietic protoporphyria MONDO:0019142 Orphanet:659681 Orphanet:738 inherited porphyria MONDO:0001713 inherited aplastic anemia MONDO:0015909 Orphanet:68383 Orphanet:182040 aplastic anemia MONDO:0002142 undifferentiated pleomorphic sarcoma MONDO:0018078 Orphanet:2023 Orphanet:3394 soft tissue sarcoma MONDO:0002142 undifferentiated pleomorphic sarcoma MONDO:0021054 Orphanet:2023 Orphanet:223727 bone sarcoma @@ -17273,7 +17300,6 @@ MONDO:0007478 autosomal dominant Kenny-Caffey syndrome MONDO:0016516 Orphanet:93 MONDO:0007483 dyschromatosis symmetrica hereditaria MONDO:0019289 Orphanet:41 Orphanet:79375 hyperpigmentation of the skin MONDO:0007486 hereditary benign intraepithelial dyskeratosis MONDO:0020212 Orphanet:352657 Orphanet:98625 superficial corneal dystrophy MONDO:0007493 torsion dystonia 4 MONDO:0015990 Orphanet:98805 Orphanet:1866 focal, segmental or multifocal dystonia -MONDO:0007495 dystonia 5 MONDO:0016812 Orphanet:98808 Orphanet:255 dopa-responsive dystonia MONDO:0007510 Clouston syndrome MONDO:0019287 Orphanet:189 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0007511 ectodermal dysplasia, trichoodontoonychial type MONDO:0019287 Orphanet:1818 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0007519 Edinburgh malformation syndrome MONDO:0043009 Orphanet:1895 Orphanet:471383 hereditary lethal multiple congenital anomalies/dysmorphic syndrome @@ -18221,6 +18247,7 @@ MONDO:0010399 chromosome Xp21 deletion syndrome MONDO:0017004 Orphanet:261476 Or MONDO:0010403 albinism-hearing loss syndrome MONDO:0019290 Orphanet:998 Orphanet:79376 hypopigmentation of the skin MONDO:0010404 X-linked non progressive cerebellar ataxia MONDO:0016612 Orphanet:314978 Orphanet:247765 X-linked cerebellar ataxia MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome MONDO:0015161 Orphanet:140952 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0010420 X-linked erythropoietic protoporphyria MONDO:0001676 Orphanet:443197 Orphanet:659681 erythropoietic protoporphyria MONDO:0010421 Bruton-type agammaglobulinemia MONDO:0016462 Orphanet:47 Orphanet:229717 isolated agammaglobulinemia MONDO:0010425 Lisch epithelial corneal dystrophy MONDO:0020212 Orphanet:98955 Orphanet:98625 superficial corneal dystrophy MONDO:0010426 X-linked endothelial corneal dystrophy MONDO:0020214 Orphanet:293621 Orphanet:98627 posterior corneal dystrophy @@ -19035,6 +19062,7 @@ MONDO:0014115 hypomyelination with brain stem and spinal cord involvement and le MONDO:0014117 Charcot-Marie-Tooth disease type 4B3 MONDO:0018995 Orphanet:363981 Orphanet:64749 Charcot-Marie-Tooth disease type 4 MONDO:0014121 autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures MONDO:0018190 Orphanet:363454 Orphanet:363447 autosomal dominant childhood-onset proximal spinal muscular atrophy MONDO:0014127 oculocutaneous albinism type 5 MONDO:0018910 Orphanet:370091 Orphanet:55 oculocutaneous albinism +MONDO:0014128 TCF12-related craniosynostosis MONDO:0015338 Orphanet:672979 Orphanet:139393 syndromic craniosynostosis MONDO:0014132 multiple mitochondrial dysfunctions syndrome 3 MONDO:0017338 Orphanet:363424 Orphanet:289573 fatal multiple mitochondrial dysfunctions syndrome MONDO:0014142 autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0015152 Orphanet:363623 Orphanet:102015 autosomal recessive limb-girdle muscular dystrophy MONDO:0014144 autosomal recessive limb-girdle muscular dystrophy type R18 MONDO:0015152 Orphanet:369840 Orphanet:102015 autosomal recessive limb-girdle muscular dystrophy @@ -19082,6 +19110,7 @@ MONDO:0014339 autosomal recessive spinocerebellar ataxia 16 MONDO:0015244 Orphan MONDO:0014349 pontocerebellar hypoplasia type 10 MONDO:0020135 Orphanet:411493 Orphanet:98523 pontocerebellar hypoplasia MONDO:0014351 pontocerebellar hypoplasia type 9 MONDO:0020135 Orphanet:369920 Orphanet:98523 pontocerebellar hypoplasia MONDO:0014353 immunodeficiency 23 MONDO:0017749 Orphanet:443811 Orphanet:309526 disorder of multiple glycosylation +MONDO:0014355 cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis MONDO:0019270 Orphanet:476096 Orphanet:79355 erythrokeratoderma MONDO:0014361 autism spectrum disorder due to AUTS2 deficiency MONDO:0015159 Orphanet:352490 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014371 developmental and epileptic encephalopathy, 23 MONDO:0015159 Orphanet:411986 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014371 developmental and epileptic encephalopathy, 23 MONDO:0015653 Orphanet:411986 Orphanet:166472 monogenic epilepsy @@ -20682,7 +20711,6 @@ MONDO:0018770 Jeune syndrome MONDO:0015461 Orphanet:474 Orphanet:1505 short rib- MONDO:0018770 Jeune syndrome MONDO:0015962 Orphanet:474 Orphanet:183592 inherited renal tubular disease MONDO:0018773 autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome MONDO:0015362 Orphanet:476093 Orphanet:140465 neuronopathy, distal hereditary motor, autosomal dominant MONDO:0018773 autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome MONDO:0018943 Orphanet:476093 Orphanet:593 myofibrillar myopathy -MONDO:0018774 erythrokeratodermia-cardiomyopathy syndrome MONDO:0019270 Orphanet:476096 Orphanet:79355 erythrokeratoderma MONDO:0018776 demyelinating hereditary motor and sensory neuropathy MONDO:0015626 Orphanet:476116 Orphanet:166 Charcot-Marie-Tooth disease MONDO:0018777 autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome MONDO:0019280 Orphanet:476119 Orphanet:79365 hypertrichosis MONDO:0018778 intermediate Charcot-Marie-Tooth disease MONDO:0015626 Orphanet:476123 Orphanet:166 Charcot-Marie-Tooth disease @@ -20890,6 +20918,7 @@ MONDO:0019254 inborn disorder of purine or pyrimidine metabolism MONDO:0019052 O MONDO:0019256 sterol metabolism disorder MONDO:0002525 Orphanet:79226 Orphanet:309005 inherited lipid metabolism disorder MONDO:0019258 mild phenylketonuria MONDO:0009861 Orphanet:79253 Orphanet:716 phenylketonuria MONDO:0019259 classic phenylketonuria MONDO:0009861 Orphanet:79254 Orphanet:716 phenylketonuria +MONDO:0019263 autosomal erythropoietic protoporphyria MONDO:0001676 Orphanet:79278 Orphanet:659681 erythropoietic protoporphyria MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 MONDO:0017779 Orphanet:79281 Orphanet:3137 alpha-N-acetylgalactosaminidase deficiency MONDO:0019265 diazoxide-resistant focal hyperinsulinism MONDO:0017186 Orphanet:79298 Orphanet:276585 diazoxide-resistant hyperinsulinism MONDO:0019267 vitamin B12-unresponsive methylmalonic acidemia type mut- MONDO:0009612 Orphanet:79312 Orphanet:27 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency @@ -20966,7 +20995,6 @@ MONDO:0019438 AL amyloidosis MONDO:0019065 Orphanet:85443 Orphanet:69 amyloidosi MONDO:0019439 AA amyloidosis MONDO:0016345 Orphanet:85445 Orphanet:217720 non-familial restrictive cardiomyopathy MONDO:0019439 AA amyloidosis MONDO:0019065 Orphanet:85445 Orphanet:69 amyloidosis MONDO:0019440 wild type ABeta2M amyloidosis MONDO:0018590 Orphanet:85446 Orphanet:439246 ABeta2M amyloidosis -MONDO:0019441 ATTRV122I amyloidosis MONDO:0007100 Orphanet:85451 Orphanet:271861 familial amyloid neuropathy MONDO:0019443 dextro-looped transposition of the great arteries MONDO:0000153 Orphanet:860 Orphanet:216675 transposition of the great arteries MONDO:0019444 trichinellosis MONDO:0016128 Orphanet:863 Orphanet:206997 parasitic myositis MONDO:0019446 localized lichen myxedematosus MONDO:0018432 Orphanet:86795 Orphanet:402007 lichen myxedematosus @@ -21045,6 +21073,9 @@ MONDO:0019582 self-healing papular mucinosis MONDO:0019446 Orphanet:90397 Orphan MONDO:0019583 localized lichen myxedematosus with mixed features of different subtypes MONDO:0019447 Orphanet:90398 Orphanet:86797 atypical lichen myxedematosus MONDO:0019584 localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms MONDO:0019447 Orphanet:90399 Orphanet:86797 atypical lichen myxedematosus MONDO:0019585 scleromyxedema without monoclonal gammopathy MONDO:0019447 Orphanet:90400 Orphanet:86797 atypical lichen myxedematosus +MONDO:0019586 X-linked nonsyndromic hearing loss MONDO:0019497 Orphanet:90625 Orphanet:87884 nonsyndromic genetic hearing loss +MONDO:0019587 autosomal dominant nonsyndromic hearing loss MONDO:0019497 Orphanet:90635 Orphanet:87884 nonsyndromic genetic hearing loss +MONDO:0019588 hearing loss, autosomal recessive MONDO:0019497 Orphanet:90636 Orphanet:87884 nonsyndromic genetic hearing loss MONDO:0019600 xeroderma pigmentosum MONDO:0015951 Orphanet:910 Orphanet:183490 hereditary photodermatosis MONDO:0019605 immunotactoid or fibrillary glomerulopathy MONDO:0019722 Orphanet:91137 Orphanet:93548 glomerular disorder MONDO:0019607 unspecified juvenile idiopathic arthritis MONDO:0011429 Orphanet:91140 Orphanet:92 juvenile idiopathic arthritis @@ -21439,12 +21470,14 @@ MONDO:0024503 digestive system neuroendocrine neoplasm MONDO:0019496 Orphanet:10 MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 MONDO:0008891 Orphanet:572543 Orphanet:97229 riboflavin transporter deficiency MONDO:0024548 peeling skin syndrome 1 MONDO:0010033 Orphanet:263553 Orphanet:263543 generalized peeling skin syndrome MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency MONDO:0010627 Orphanet:538931 Orphanet:2442 X-linked lymphoproliferative syndrome +MONDO:0024607 congenital muscular dystrophy with cataracts and intellectual disability MONDO:0019950 Orphanet:662184 Orphanet:97242 congenital muscular dystrophy MONDO:0024609 vulvar squamous cell carcinoma MONDO:0005215 Orphanet:494448 Orphanet:494418 vulvar carcinoma MONDO:0025193 oculopharyngodistal myopathy MONDO:0016106 Orphanet:98897 Orphanet:206644 progressive muscular dystrophy MONDO:0028226 autosomal recessive severe congenital neutropenia MONDO:0018542 Orphanet:439849 Orphanet:42738 severe congenital neutropenia MONDO:0029136 muscular dystrophy, limb-girdle, autosomal recessive 23 MONDO:0015152 Orphanet:565837 Orphanet:102015 autosomal recessive limb-girdle muscular dystrophy MONDO:0030105 galactosemia 4 MONDO:0018116 Orphanet:570422 Orphanet:352 galactosemia MONDO:0030258 pontocerebellar hypoplasia, type 14 MONDO:0020135 Orphanet:613274 Orphanet:98523 pontocerebellar hypoplasia +MONDO:0030524 mucopolysaccharidosis, type 10 MONDO:0019249 Orphanet:662216 Orphanet:79213 mucopolysaccharidosis MONDO:0030899 oculocutaneous albinism type 8 MONDO:0018910 Orphanet:597733 Orphanet:55 oculocutaneous albinism MONDO:0030912 intellectual disability, autosomal dominant 47 MONDO:0015159 Orphanet:502434 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0030913 intellectual disability, autosomal dominant 48 MONDO:0015159 Orphanet:500159 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -21634,7 +21667,6 @@ MONDO:0100512 mitochondrial DNA depletion syndrome, hepatocerebral form MONDO:00 MONDO:0100527 dysplastic cortical hyperostosis, Kozlowski-Tsuruta type MONDO:0016357 Orphanet:2204 Orphanet:646139 dysplastic cortical hyperostosis MONDO:0100528 Hao-Fountain syndrome due to 16p13.2 microdeletion MONDO:0014805 Orphanet:500055 Orphanet:643549 Hao-Fountain syndrome MONDO:0100528 Hao-Fountain syndrome due to 16p13.2 microdeletion MONDO:0016894 Orphanet:500055 Orphanet:261956 partial deletion of the short arm of chromosome 16 -MONDO:0100552 ATTRV30M amyloidosis MONDO:0007100 Orphanet:85447 Orphanet:271861 familial amyloid neuropathy MONDO:0100567 hereditary angioedema with normal C1Inh MONDO:0019623 Orphanet:528647 Orphanet:91378 hereditary angioedema MONDO:0700088 paroxysmal nonkinesigenic dyskinesia MONDO:0015427 Orphanet:98810 Orphanet:1431 paroxysmal dyskinesia MONDO:0700264 type 1 interferonopathy MONDO:0019751 Orphanet:477647 Orphanet:93665 autoinflammatory syndrome @@ -21655,6 +21687,7 @@ MONDO:0859003 PAICS deficiency MONDO:0019236 Orphanet:633099 Orphanet:79191 inbo MONDO:0859007 mosaic Legius syndrome MONDO:0019289 Orphanet:634511 Orphanet:79375 hyperpigmentation of the skin MONDO:0859008 neurofibromatosis/schwannomatosis MONDO:0015356 Orphanet:634518 Orphanet:140162 hereditary neoplastic syndrome MONDO:0859147 Marbach-Rustad progeroid syndrome MONDO:0015333 Orphanet:659873 Orphanet:139033 progeroid syndrome +MONDO:0859267 tumor predisposition syndrome 2 MONDO:0015356 Orphanet:661526 Orphanet:140162 hereditary neoplastic syndrome MONDO:0859692 immune-mediated cerebellar ataxia MONDO:0016593 Orphanet:623638 Orphanet:247242 acquired ataxia MONDO:0859761 SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome MONDO:0859000 Orphanet:633021 Orphanet:633014 SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome MONDO:0859762 SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome MONDO:0859000 Orphanet:633024 Orphanet:633014 SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome @@ -21735,5 +21768,34 @@ MONDO:0970962 terminal myelocystocele MONDO:0017077 Orphanet:645337 Orphanet:268 MONDO:0970962 terminal myelocystocele MONDO:0968988 Orphanet:645337 Orphanet:645319 saccular spinal dysraphism with a stalk to the dome MONDO:0970963 saccular limited dorsal myeloschisis MONDO:0968988 Orphanet:645354 Orphanet:645319 saccular spinal dysraphism with a stalk to the dome MONDO:0970964 myelic limited dorsal malformation MONDO:0968988 Orphanet:645378 Orphanet:645319 saccular spinal dysraphism with a stalk to the dome +MONDO:0971047 PRC-2 complex-related overgrowth spectrum MONDO:0015159 Orphanet:659387 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0971047 PRC-2 complex-related overgrowth spectrum MONDO:0019716 Orphanet:659387 Orphanet:93460 overgrowth syndrome +MONDO:0971049 single isolated optic neuritis MONDO:0044688 Orphanet:659626 Orphanet:499096 isolated optic neuritis +MONDO:0971050 relapsing isolated optic neuritis MONDO:0044688 Orphanet:659634 Orphanet:499096 isolated optic neuritis +MONDO:0971058 verruga peruana MONDO:0018984 Orphanet:659759 Orphanet:64692 Oroya fever +MONDO:0971062 developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation MONDO:0859257 Orphanet:660012 Orphanet:660017 intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism +MONDO:0971063 autosomal dominant dopa-responsive dystonia MONDO:0016812 Orphanet:98808 Orphanet:255 dopa-responsive dystonia +MONDO:0971064 orofacial clefting-cardiac anomalies-facial dysmorphism syndrome MONDO:0015159 Orphanet:660021 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0971066 megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency MONDO:0017313 Orphanet:661412 Orphanet:285657 disorder of folate metabolism and transport +MONDO:0971068 Phelan-McDermid syndrome due to 22q13.3 deletion MONDO:0011652 Orphanet:662169 Orphanet:48652 Phelan-McDermid syndrome +MONDO:0971068 Phelan-McDermid syndrome due to 22q13.3 deletion MONDO:0022760 Orphanet:662169 Orphanet:262182 chromosome 22q deletion +MONDO:0971069 Phelan-McDermid syndrome due to SHANK3 mutation MONDO:0011652 Orphanet:662172 Orphanet:48652 Phelan-McDermid syndrome +MONDO:0971077 episodic memory defect leukoencephalopathy MONDO:0019046 Orphanet:662229 Orphanet:68356 leukodystrophy +MONDO:0971091 acute megakaryoblastic leukemia in adult MONDO:0018872 Orphanet:662934 Orphanet:518 acute megakaryoblastic leukemia +MONDO:0971092 soft and hard cleft palate MONDO:0016064 Orphanet:664372 Orphanet:2014 cleft palate +MONDO:0971094 cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation MONDO:0016460 Orphanet:664401 Orphanet:228410 polyvalvular heart disease syndrome +MONDO:0971095 6q25.1 microdeletion syndrome MONDO:0016460 Orphanet:664404 Orphanet:228410 polyvalvular heart disease syndrome +MONDO:0971095 6q25.1 microdeletion syndrome MONDO:0016905 Orphanet:664404 Orphanet:262047 partial deletion of the long arm of chromosome 6 +MONDO:0971107 common arterial trunk with aortic dominance MONDO:0018072 Orphanet:665044 Orphanet:3384 persistent truncus arteriosus +MONDO:0971108 common arterial trunk with pulmonary dominance and interrupted aortic arch MONDO:0018072 Orphanet:665058 Orphanet:3384 persistent truncus arteriosus +MONDO:0971118 pilocytic astrocytoma with histological features of anaplasia MONDO:0016691 Orphanet:673585 Orphanet:251612 pilocytic astrocytoma +MONDO:0971133 isolated segmental infantile hemangioma MONDO:0016223 Orphanet:675380 Orphanet:210589 infantile hemangioma of rare localization +MONDO:0971137 severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome MONDO:0015159 Orphanet:675775 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0971138 progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN MONDO:0015159 Orphanet:675782 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0971138 progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN MONDO:0017739 Orphanet:675782 Orphanet:309340 disorder of lysosomal-related organelles +MONDO:0971141 localized pleural mesothelioma MONDO:0006292 Orphanet:675833 Orphanet:50251 malignant mesothelioma +MONDO:0971142 diffused pleural mesothelioma MONDO:0006292 Orphanet:675837 Orphanet:50251 malignant mesothelioma +MONDO:0971143 pleural mesothelioma in situ MONDO:0006292 Orphanet:675841 Orphanet:50251 malignant mesothelioma +MONDO:0971154 hepatic cutaneous porphyria MONDO:0002520 Orphanet:659698 Orphanet:659694 hepatic porphyria MONDO:8000008 Martsolf syndrome 1 MONDO:0015159 Orphanet:1387 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive MONDO:0017574 Orphanet:99811 Orphanet:2978 chronic intestinal pseudoobstruction diff --git a/src/ontology/reports/sync-subClassOf.direct-in-mondo-only.tsv b/src/ontology/reports/sync-subClassOf.direct-in-mondo-only.tsv index b1a4b2d55..b5f9c7973 100644 --- a/src/ontology/reports/sync-subClassOf.direct-in-mondo-only.tsv +++ b/src/ontology/reports/sync-subClassOf.direct-in-mondo-only.tsv @@ -127,7 +127,6 @@ MONDO:0000412 MONDO:0000411 True neonatal period electroclinical syndrome electr MONDO:0000413 MONDO:0000411 True infancy electroclinical syndrome electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000414 MONDO:0000411 True childhood electroclinical syndrome electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000415 MONDO:0000411 True adolescence-adult electroclinical syndrome electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000424 MONDO:0005528 True inborn vitamin B12 deficiency inborn vitamin metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000425 MONDO:0003847 True X-linked disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000426 MONDO:0000429 True autosomal dominant disease autosomal genetic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000428 MONDO:0003847 True Y-linked disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -1155,8 +1154,8 @@ MONDO:0001672 MONDO:0000376 True bronchus cancer respiratory system cancer UNSUP MONDO:0001673 MONDO:0004335 True diarrheal disease digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001674 MONDO:0003409 True diverticulitis of colon colonic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001674 MONDO:0004235 True diverticulitis of colon diverticulitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001676 MONDO:0002520 True erythropoietic protoporphyria hepatic porphyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001676 MONDO:0019142 True erythropoietic protoporphyria inherited porphyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001676 MONDO:0002520 True erythropoietic protoporphyria hepatic porphyria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001676 MONDO:0019142 True erythropoietic protoporphyria inherited porphyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001678 MONDO:0005768 True intestinal tuberculosis gastrointestinal tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001680 MONDO:0000647 True vaginal mullerian papilloma benign vaginal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001680 MONDO:0001704 True vaginal mullerian papilloma vaginal glandular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -4563,7 +4562,6 @@ MONDO:0004583 MONDO:0006948 True transient retinal arterial occlusion retinal ar MONDO:0004584 MONDO:0002312 True maple bark strippers' lung opportunistic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004586 MONDO:0005275 True rheumatoid lung disease lung disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004586 MONDO:0007179 True rheumatoid lung disease autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0004587 MONDO:0004588 True hereditary night blindness night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING SUPPORTED MONDO:0004588 MONDO:0005283 True night blindness retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004591 MONDO:0004592 True impetigo herpetiformis impetigo UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004592 MONDO:0002922 True impetigo pyoderma UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED @@ -4957,7 +4955,7 @@ MONDO:0004993 MONDO:0005626 True carcinoma epithelial neoplasm UNSUPPORTED-MISSI MONDO:0004994 MONDO:0005267 True cardiomyopathy heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004996 MONDO:0004355 True childhood acute myeloid leukemia childhood leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004996 MONDO:0018874 True childhood acute myeloid leukemia acute myeloid leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004997 MONDO:0000631 True chondroblastoma bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004997 MONDO:0000631 True chondroblastoma bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004997 MONDO:0024470 True chondroblastoma benign chondrogenic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005002 MONDO:0002267 True chronic obstructive pulmonary disease obstructive lung disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005004 MONDO:0004970 True clear cell adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -6225,6 +6223,7 @@ MONDO:0006586 MONDO:0002406 True neurotic excoriation dermatitis UNSUPPORTED-MIS MONDO:0006589 MONDO:0005480 True occupational dermatitis contact dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006590 MONDO:0006566 True palmoplantar keratosis keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006591 MONDO:0002051 True panniculitis integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0006591 MONDO:0003900 True panniculitis connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006592 MONDO:0005083 True parapsoriasis psoriasis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006593 MONDO:0006574 True pelvic lipomatosis lipomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006594 MONDO:0019337 True pemphigus autoimmune bullous skin disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -6872,8 +6871,6 @@ MONDO:0007486 MONDO:0020212 True hereditary benign intraepithelial dyskeratosis MONDO:0007489 MONDO:0018230 True dysplasia epiphysealis hemimelica skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007490 MONDO:0018230 True carpotarsal osteochondromatosis skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007493 MONDO:0015990 True torsion dystonia 4 focal, segmental or multifocal dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007495 MONDO:0016812 True dystonia 5 dopa-responsive dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007495 MONDO:0044807 True dystonia 5 inherited dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0007496 MONDO:0020065 True dystonia 12 combined dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007507 MONDO:0019268 True absence of fingerprints-congenital milia syndrome epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007508 MONDO:0000426 True Rapp-Hodgkin syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -7031,7 +7028,7 @@ MONDO:0007753 MONDO:0001292 True Frey syndrome autonomic nervous system disorder MONDO:0007756 MONDO:0019268 True hyperkeratosis lenticularis perstans epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007757 MONDO:0019289 True hyperkeratosis-hyperpigmentation syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007758 MONDO:0017666 True epidermolytic palmoplantar keratoderma, 1 diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007758 MONDO:0968949 True epidermolytic palmoplantar keratoderma, 1 palmoplantar keratoderma, epidermolytic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007758 MONDO:0968949 True epidermolytic palmoplantar keratoderma, 1 palmoplantar keratoderma, epidermolytic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0007762 MONDO:0001336 True hyperlipoproteinemia type V familial hyperlipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0007763 MONDO:0005086 True nonpapillary renal cell carcinoma renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0007764 MONDO:0002185 True autosomal dominant osteosclerosis, Worth type hyperostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -7369,7 +7366,7 @@ MONDO:0008262 MONDO:0015856 True Poland syndrome syndromic breast hypoplasia/apl MONDO:0008262 MONDO:0019054 True Poland syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008263 MONDO:0004691 True polycystic kidney disease 1 autosomal dominant polycystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0008264 MONDO:0019741 True autosomal dominant medullary cystic kidney disease with or without hyperuricemia familial cystic renal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008265 MONDO:0000447 True polycystic liver disease 1 autosomal dominant polycystic liver disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008265 MONDO:0000447 True polycystic liver disease 1 autosomal dominant polycystic liver disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0008267 MONDO:0015375 True orofaciodigital syndrome V orofaciodigital syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0008269 MONDO:0017425 True polydactyly of a biphalangeal thumb preaxial polydactyly of fingers UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0008270 MONDO:0017425 True polydactyly of a triphalangeal thumb preaxial polydactyly of fingers UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING @@ -8074,7 +8071,7 @@ MONDO:0009212 MONDO:0015722 True congenital factor X deficiency congenital vitam MONDO:0009213 MONDO:0019391 True Fanconi anemia complementation group C Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0009214 MONDO:0019391 True Fanconi anemia complementation group D2 Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0009215 MONDO:0019391 True Fanconi anemia complementation group A Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009216 MONDO:0002412 True glycogen storage disease due to GLUT2 deficiency disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0009216 MONDO:0002412 True glycogen storage disease due to GLUT2 deficiency disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0009217 MONDO:0002254 True Fanconi-like syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0009221 MONDO:0018234 True femur-fibula-ulna complex dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009221 MONDO:0019054 True femur-fibula-ulna complex congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -8538,7 +8535,6 @@ MONDO:0009770 MONDO:0017398 True 3MC syndrome 1 3MC syndrome UNSUPPORTED-MISSING MONDO:0009771 MONDO:0019287 True oculotrichodysplasia ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009773 MONDO:0017666 True odonto-onycho-dermal dysplasia diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009774 MONDO:0017919 True cloacal exstrophy exstrophy-epispadias complex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009775 MONDO:0016293 True Oguchi disease-1 congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0009776 MONDO:0004983 True spermatogenic failure 1 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0009777 MONDO:0015159 True Oliver syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009779 MONDO:0006025 True autosomal recessive omodysplasia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -8591,9 +8587,8 @@ MONDO:0009845 MONDO:0019054 True pelviscapular dysplasia congenital limb malform MONDO:0009848 MONDO:0019296 True dissecting cellulitis of the scalp subcutaneous tissue disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009849 MONDO:0005046 True hyperimmunoglobulinemia D with periodic fever immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0009849 MONDO:0017708 True hyperimmunoglobulinemia D with periodic fever mevalonate kinase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009852 MONDO:0000424 True hereditary intrinsic factor deficiency inborn vitamin B12 deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0009852 MONDO:0016624 True hereditary intrinsic factor deficiency inherited deficiency anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009852 MONDO:0019220 True hereditary intrinsic factor deficiency inborn disorder of cobalamin metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009852 MONDO:0019220 True hereditary intrinsic factor deficiency inborn disorder of cobalamin metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0009853 MONDO:0016624 True Imerslund-Grasbeck syndrome inherited deficiency anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009853 MONDO:0019220 True Imerslund-Grasbeck syndrome inborn disorder of cobalamin metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009855 MONDO:0019233 True d-bifunctional protein deficiency disorder of peroxisomal beta oxidation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -8831,9 +8826,8 @@ MONDO:0010139 MONDO:0019824 True isolated thyroid-stimulating hormone deficiency MONDO:0010140 MONDO:0016410 True isolated thyrotropin-releasing hormone deficiency central congenital hypothyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010142 MONDO:0000045 True hypothyroidism due to TSH receptor mutations hypothyroidism, congenital, nongoitrous UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0010144 MONDO:0016240 True tibial hemimelia hemimelia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010149 MONDO:0000424 True transcobalamin II deficiency inborn vitamin B12 deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0010149 MONDO:0016624 True transcobalamin II deficiency inherited deficiency anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010149 MONDO:0019220 True transcobalamin II deficiency inborn disorder of cobalamin metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010149 MONDO:0019220 True transcobalamin II deficiency inborn disorder of cobalamin metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0010150 MONDO:0002038 True head and neck squamous cell carcinoma head and neck carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0010150 MONDO:0005096 True head and neck squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0010152 MONDO:0019287 True trichomegaly-retina pigmentary degeneration-dwarfism syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS @@ -9072,7 +9066,7 @@ MONDO:0010413 MONDO:0019181 True intellectual disability, X-linked 95 non-syndro MONDO:0010417 MONDO:0020022 True syndromic X-linked intellectual disability Najm type central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010417 MONDO:0020119 True syndromic X-linked intellectual disability Najm type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0010418 MONDO:0015149 True hereditary spastic paraplegia 34 pure hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010420 MONDO:0001676 True X-linked erythropoietic protoporphyria erythropoietic protoporphyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010420 MONDO:0001676 True X-linked erythropoietic protoporphyria erythropoietic protoporphyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0010421 MONDO:0016462 True Bruton-type agammaglobulinemia isolated agammaglobulinemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010422 MONDO:0004975 True Alzheimer disease 16 Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0010423 MONDO:0005345 True hypospadias 2, X-linked hypospadias UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -9719,7 +9713,6 @@ MONDO:0011286 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 1 MONDO:0011287 MONDO:0015338 True craniosynostosis-anal anomalies-porokeratosis syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011291 MONDO:0005500 True ALG6-congenital disorder of glycosylation 1C congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0011291 MONDO:0017740 True ALG6-congenital disorder of glycosylation 1C disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011292 MONDO:0004980 True dermatitis, atopic atopic eczema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011294 MONDO:0005090 True schizophrenia 5 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED MONDO:0011295 MONDO:0005090 True schizophrenia 7 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED MONDO:0011296 MONDO:0018921 True Meckel syndrome, type 2 Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED @@ -9935,12 +9928,17 @@ MONDO:0011589 MONDO:0000170 True microphthalmia with coloboma 2 microphthalmia, MONDO:0011592 MONDO:0019516 True exudative vitreoretinopathy 3 exudative vitreoretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0011593 MONDO:0017615 True seizures, benign familial infantile, 2 benign familial infantile epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0011595 MONDO:0019284 True nonsyndromic congenital nail disorder 7 inherited isolated nail anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011596 MONDO:0100178 True dermatitis, atopic, 2 dermatitis, atopic, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011597 MONDO:0100178 True dermatitis, atopic, 3 dermatitis, atopic, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011598 MONDO:0100178 True dermatitis, atopic, 4 dermatitis, atopic, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011599 MONDO:0006918 True birdshot chorioretinopathy posterior uveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0011601 MONDO:0016602 True neonatal intrahepatic cholestasis due to citrin deficiency citrin deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011602 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 27 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0011603 MONDO:0016112 True GNE myopathy hereditary inclusion-body myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011603 MONDO:0017749 True GNE myopathy disorder of multiple glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011603 MONDO:0018795 True GNE myopathy syndromic constitutional thrombocytopenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011608 MONDO:0100178 True dermatitis, atopic, 5 dermatitis, atopic, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011609 MONDO:0100178 True dermatitis, atopic, 6 dermatitis, atopic, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011612 MONDO:0019239 True glycine encephalopathy inborn disorder of serine family metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011613 MONDO:0017279 True autosomal recessive early-onset Parkinson disease 6 young-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0011614 MONDO:0017713 True 3-hydroxy-3-methylglutaryl-CoA synthase deficiency disorder of fatty acid oxidation and ketogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -10014,7 +10012,7 @@ MONDO:0011720 MONDO:0004983 True spermatogenic failure 3 spermatogenic failure U MONDO:0011721 MONDO:0016145 True distal myopathy with anterior tibial onset qualitative or quantitative defects of dysferlin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011721 MONDO:0018949 True distal myopathy with anterior tibial onset distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED SUPPORTED MONDO:0011722 MONDO:0015159 True intellectual disability-obesity-prognathism-eye and skin anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011724 MONDO:0000188 True encephalopathy due to GLUT1 deficiency GLUT1 deficiency syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0011724 MONDO:0000188 True encephalopathy due to GLUT1 deficiency GLUT1 deficiency syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0011725 MONDO:0009044 True Crigler-Najjar syndrome type 2 Crigler-Najjar syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011728 MONDO:0000477 True benign essential blepharospasm focal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0011730 MONDO:0016790 True fumaric aciduria tricarboxylic acid cycle disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -10148,7 +10146,6 @@ MONDO:0011890 MONDO:0019011 True Charcot-Marie-Tooth disease type 1D Charcot-Mar MONDO:0011891 MONDO:0000032 True febrile seizures, familial, 8 febrile seizures, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0011891 MONDO:0010826 True febrile seizures, familial, 8 childhood absence epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0011891 MONDO:0018214 True febrile seizures, familial, 8 generalized epilepsy with febrile seizures plus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0011893 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 52 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED MONDO:0011894 MONDO:0018993 True Charcot-Marie-Tooth disease type 2E Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING SUPPORTED MONDO:0011895 MONDO:0015691 True idiopathic hypereosinophilic syndrome hypereosinophilic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011897 MONDO:0019046 True leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED @@ -10533,7 +10530,7 @@ MONDO:0012421 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 4 MONDO:0012425 MONDO:0005321 True corneal dystrophy, fuchs endothelial, 2 Fuchs' endothelial dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012427 MONDO:0018954 True Loeys-Dietz syndrome 2 Loeys-Dietz syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012429 MONDO:0018866 True Aicardi-Goutieres syndrome 2 Aicardi-Goutieres syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012430 MONDO:0009133 True cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 cerebellar ataxia, intellectual disability, and dysequilibrium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012430 MONDO:0009133 True cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 cerebellar ataxia, intellectual disability, and dysequilibrium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012431 MONDO:0005711 True diaphragmatic hernia 3 congenital diaphragmatic hernia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012432 MONDO:0018772 True Joubert syndrome 5 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012433 MONDO:0017842 True Senior-Loken syndrome 6 Senior-Loken syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -10591,12 +10588,12 @@ MONDO:0012502 MONDO:0018891 True normophosphatemic familial tumoral calcinosis f MONDO:0012503 MONDO:0000210 True thiopurine S-methyltransferase deficiency thiopurine metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012504 MONDO:0000429 True camptodactyly-tall stature-scoliosis-hearing loss syndrome autosomal genetic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0012504 MONDO:0019685 True camptodactyly-tall stature-scoliosis-hearing loss syndrome FGFR3-related chondrodysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012505 MONDO:0015999 True pigmented nodular adrenocortical disease, primary, 2 primary pigmented nodular adrenocortical disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012505 MONDO:0015999 True pigmented nodular adrenocortical disease, primary, 2 primary pigmented nodular adrenocortical disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012506 MONDO:0016342 True arrhythmogenic right ventricular dysplasia 11 familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012507 MONDO:0000455 True retinal cone dystrophy 4 cone dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0012508 MONDO:0015159 True agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012508 MONDO:0016463 True agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome syndromic agammaglobulinemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012509 MONDO:0015999 True pigmented nodular adrenocortical disease, primary, 1 primary pigmented nodular adrenocortical disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012509 MONDO:0015999 True pigmented nodular adrenocortical disease, primary, 1 primary pigmented nodular adrenocortical disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012510 MONDO:0000732 True combined oxidative phosphorylation defect type 2 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012511 MONDO:0002263 True preterm premature rupture of the membranes female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0012512 MONDO:0000732 True fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED @@ -10817,7 +10814,7 @@ MONDO:0012801 MONDO:0020836 True autism, susceptibility to, 15 autism, susceptib MONDO:0012802 MONDO:0016073 True oculoauricular syndrome syndromic microphthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0012803 MONDO:0017706 True diarrhea-vomiting due to trehalase deficiency disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012804 MONDO:0024573 True hypertrophic cardiomyopathy 12 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012805 MONDO:0000188 True childhood onset GLUT1 deficiency syndrome 2 GLUT1 deficiency syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012805 MONDO:0000188 True childhood onset GLUT1 deficiency syndrome 2 GLUT1 deficiency syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012805 MONDO:0015427 True childhood onset GLUT1 deficiency syndrome 2 paroxysmal dyskinesia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012806 MONDO:0010293 True ectodermal dysplasia and immunodeficiency 2 ectodermal dysplasia and immune deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012807 MONDO:0017610 True epidermolysis bullosa simplex 5C, with pyloric atresia epidermolysis bullosa simplex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -11037,6 +11034,7 @@ MONDO:0013096 MONDO:0100242 True glioma susceptibility 7 glioma susceptibility U MONDO:0013097 MONDO:0100242 True glioma susceptibility 8 glioma susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013099 MONDO:0015770 True combined pituitary hormone deficiencies, genetic form congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013100 MONDO:0018054 True atrial fibrillation, familial, 8 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013107 MONDO:0100178 True dermatitis, atopic, 7 dermatitis, atopic, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013110 MONDO:0005528 True neurodegenerative syndrome due to cerebral folate transport deficiency inborn vitamin metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0013110 MONDO:0017313 True neurodegenerative syndrome due to cerebral folate transport deficiency disorder of folate metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013110 MONDO:0024237 True neurodegenerative syndrome due to cerebral folate transport deficiency inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -11108,7 +11106,7 @@ MONDO:0013182 MONDO:0015159 True chromosome 17p13.3 duplication syndrome multipl MONDO:0013182 MONDO:0016950 True chromosome 17p13.3 duplication syndrome partial duplication of the short arm of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013183 MONDO:0016293 True congenital stationary night blindness 1C congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013186 MONDO:0018997 True Noonan syndrome 6 Noonan syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013188 MONDO:0009133 True cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 cerebellar ataxia, intellectual disability, and dysequilibrium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013188 MONDO:0009133 True cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 cerebellar ataxia, intellectual disability, and dysequilibrium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013189 MONDO:0001162 True trichotillomania impulse control disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0013191 MONDO:0005363 True focal segmental glomerulosclerosis 5 inherited focal segmental glomerulosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013192 MONDO:0024512 True spondyloarthropathy, susceptibility to, 3 spondyloarthropathy, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -11160,13 +11158,12 @@ MONDO:0013256 MONDO:0003847 True chromosome 15q24 deletion syndrome hereditary d MONDO:0013256 MONDO:0015159 True chromosome 15q24 deletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013256 MONDO:0016913 True chromosome 15q24 deletion syndrome partial deletion of the long arm of chromosome 15 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013258 MONDO:0020836 True autism, susceptibility to, 16 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013259 MONDO:0016293 True Oguchi disease-2 congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013261 MONDO:0018901 True dilated cardiomyopathy 1R left ventricular noncompaction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013262 MONDO:0018901 True dilated cardiomyopathy 1S left ventricular noncompaction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013263 MONDO:0019200 True retinitis pigmentosa 54 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013264 MONDO:0005144 True amyotrophic lateral sclerosis type 12 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013265 MONDO:0020836 True autism, susceptibility to, 17 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013266 MONDO:0015802 True intellectual disability, autosomal dominant 20 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0013266 MONDO:0015802 True intellectual disability, autosomal dominant 20 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0013267 MONDO:0016894 True distal 16p11.2 microdeletion syndrome partial deletion of the short arm of chromosome 16 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013268 MONDO:0016643 True frontonasal dysplasia with alopecia and genital anomaly frontonasal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013269 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 91 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED @@ -11187,6 +11184,8 @@ MONDO:0013285 MONDO:0015517 True immunodeficiency, common variable, 5 common var MONDO:0013286 MONDO:0015517 True immunodeficiency, common variable, 6 common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013292 MONDO:0016903 True chromosome 4q21 deletion syndrome partial deletion of the long arm of chromosome 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013293 MONDO:0000062 True isolated microphthalmia 6 isolated microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013294 MONDO:0100178 True dermatitis, atopic, 8 dermatitis, atopic, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013295 MONDO:0100178 True dermatitis, atopic, 9 dermatitis, atopic, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013296 MONDO:0015688 True myeloid neoplasm associated with FGFR1 rearrangement myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013297 MONDO:0015151 True autosomal dominant limb-girdle muscular dystrophy type 1H muscular dystrophy, limb-girdle, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013298 MONDO:0015159 True chromosome 17q21.31 duplication syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -11225,7 +11224,7 @@ MONDO:0013337 MONDO:0018213 True neuropathy, hereditary sensory and autonomic, t MONDO:0013338 MONDO:0017058 True Charcot-Marie-Tooth disease recessive intermediate B autosomal recessive intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013339 MONDO:0016333 True dilated cardiomyopathy 1GG familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013341 MONDO:0002012 True methylmalonic acidemia due to transcobalamin receptor defect methylmalonic acidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0013341 MONDO:0019220 True methylmalonic acidemia due to transcobalamin receptor defect inborn disorder of cobalamin metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013341 MONDO:0019220 True methylmalonic acidemia due to transcobalamin receptor defect inborn disorder of cobalamin metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013342 MONDO:0002561 True hereditary spastic paraplegia 48 lysosomal storage disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013342 MONDO:0019064 True hereditary spastic paraplegia 48 hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013344 MONDO:0100246 True migraine, with or without aura, susceptibility to, 13 migraine with or without aura, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -11462,7 +11461,7 @@ MONDO:0013611 MONDO:0019200 True retinitis pigmentosa 62 retinitis pigmentosa UN MONDO:0013612 MONDO:0000127 True geleophysic dysplasia 2 geleophysic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013613 MONDO:0018998 True Leber congenital amaurosis 16 Leber congenital amaurosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013615 MONDO:0015338 True craniosynostosis and dental anomalies syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013616 MONDO:0015999 True pigmented nodular adrenocortical disease, primary, 3 primary pigmented nodular adrenocortical disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0013616 MONDO:0015999 True pigmented nodular adrenocortical disease, primary, 3 primary pigmented nodular adrenocortical disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013621 MONDO:0002350 True LAMB2-related infantile-onset nephrotic syndrome familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013622 MONDO:0000009 True platelet-type bleeding disorder 9 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013623 MONDO:0000009 True platelet-type bleeding disorder 11 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED @@ -11515,7 +11514,6 @@ MONDO:0013689 MONDO:0009299 True ovarian dysgenesis 3 46 XX gonadal dysgenesis U MONDO:0013690 MONDO:0003847 True Pitt-Hopkins-like syndrome 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0013691 MONDO:0015267 True Feingold syndrome type 2 Feingold syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013692 MONDO:0015356 True BAP1-related tumor predisposition syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013693 MONDO:0017411 True inflammatory skin and bowel disease, neonatal, 1 neonatal inflammatory skin and bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013694 MONDO:0019502 True intellectual disability, autosomal recessive 31 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013695 MONDO:0000426 True colorectal cancer, hereditary nonpolyposis, type 6 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0013695 MONDO:0018630 True colorectal cancer, hereditary nonpolyposis, type 6 hereditary nonpolyposis colon cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -11859,7 +11857,7 @@ MONDO:0014100 MONDO:0016333 True dilated cardiomyopathy 1KK familial dilated car MONDO:0014100 MONDO:0016340 True dilated cardiomyopathy 1KK familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014100 MONDO:0024573 True dilated cardiomyopathy 1KK familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014101 MONDO:0000171 True muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 muscular dystrophy-dystroglycanopathy, type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS -MONDO:0014104 MONDO:0009133 True cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 cerebellar ataxia, intellectual disability, and dysequilibrium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014104 MONDO:0009133 True cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 cerebellar ataxia, intellectual disability, and dysequilibrium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014108 MONDO:0019391 True Fanconi anemia complementation group Q Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014112 MONDO:0015280 True cardiofaciocutaneous syndrome 2 cardiofaciocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014113 MONDO:0015280 True cardiofaciocutaneous syndrome 3 cardiofaciocutaneous syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED @@ -11876,6 +11874,7 @@ MONDO:0014124 MONDO:0007034 True Adams-Oliver syndrome 4 Adams-Oliver syndrome U MONDO:0014125 MONDO:0008511 True symphalangism, proximal, 1B proximal symphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014126 MONDO:0017312 True Perrault syndrome 4 Perrault syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014127 MONDO:0018910 True oculocutaneous albinism type 5 oculocutaneous albinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014128 MONDO:0015338 True TCF12-related craniosynostosis syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014131 MONDO:0017666 True hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014132 MONDO:0017338 True multiple mitochondrial dysfunctions syndrome 3 fatal multiple mitochondrial dysfunctions syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014134 MONDO:0017148 True pulmonary hypertension, primary, 2 heritable pulmonary arterial hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -12074,9 +12073,10 @@ MONDO:0014352 MONDO:0000816 True abdominal obesity-metabolic syndrome 3 abdomina MONDO:0014353 MONDO:0017749 True immunodeficiency 23 disorder of multiple glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014353 MONDO:0021094 True immunodeficiency 23 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014354 MONDO:0019502 True intellectual disability, autosomal recessive 43 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014355 MONDO:0019270 True cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis erythrokeratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014356 MONDO:0020811 True mitochondrial complex III deficiency nuclear type 7 mitochondrial complex III deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014357 MONDO:0100172 True intellectual disability, autosomal dominant 24 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014359 MONDO:0015999 True pigmented nodular adrenocortical disease, primary, 4 primary pigmented nodular adrenocortical disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014359 MONDO:0015999 True pigmented nodular adrenocortical disease, primary, 4 primary pigmented nodular adrenocortical disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014361 MONDO:0015159 True autism spectrum disorder due to AUTS2 deficiency multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014361 MONDO:0100172 True autism spectrum disorder due to AUTS2 deficiency intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014363 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 101 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED @@ -12203,7 +12203,6 @@ MONDO:0014475 MONDO:0019792 True spinocerebellar ataxia type 40 autosomal domina MONDO:0014476 MONDO:0016227 True episodic ataxia type 8 hereditary episodic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014478 MONDO:0016558 True mirror movements 3 familial congenital mirror movements UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014480 MONDO:0010765 True 46,XY sex reversal 9 46,XY complete gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014481 MONDO:0017411 True inflammatory skin and bowel disease, neonatal, 2 neonatal inflammatory skin and bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014482 MONDO:0000426 True intellectual disability, autosomal dominant 29 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0014483 MONDO:0019118 True retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies inherited retinal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014484 MONDO:0016660 True microcephaly 12, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED @@ -12298,7 +12297,7 @@ MONDO:0014592 MONDO:0000181 True microcephaly and chorioretinopathy 3 microcepha MONDO:0014594 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 67 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014595 MONDO:0100062 True developmental and epileptic encephalopathy, 30 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014596 MONDO:0018838 True lissencephaly 7 with cerebellar hypoplasia lissencephaly spectrum disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014597 MONDO:0003778 True immunodeficiency 39 inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0014597 MONDO:0003778 True immunodeficiency 39 inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0014599 MONDO:0015802 True intellectual disability, autosomal dominant 34 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0014600 MONDO:0015780 True dyskeratosis congenita, autosomal recessive 6 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014601 MONDO:0015159 True autosomal recessive spinocerebellar ataxia 20 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -12535,7 +12534,7 @@ MONDO:0014854 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 66 MONDO:0014856 MONDO:0000732 True combined oxidative phosphorylation defect type 30 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014858 MONDO:0015802 True intellectual disability, autosomal dominant 43 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0014859 MONDO:0100062 True developmental and epileptic encephalopathy, 37 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014860 MONDO:0000447 True polycystic liver disease 2 autosomal dominant polycystic liver disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014860 MONDO:0000447 True polycystic liver disease 2 autosomal dominant polycystic liver disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014861 MONDO:0000213 True autoimmune disease, multisystem, infantile-onset, 2 autoimmune disease, multisystem, infantile-onset UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014862 MONDO:0016215 True cerebral palsy, spastic quadriplegic, 3 spastic quadriplegic cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014864 MONDO:0000214 True hypermanganesemia with dystonia 2 hypermanganesemia with dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED @@ -12707,8 +12706,8 @@ MONDO:0015066 MONDO:0018511 True neuroendocrine tumor of the appendix, well diff MONDO:0015066 MONDO:0024501 True neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade appendix neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015067 MONDO:0000386 True neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor digestive system neuroendocrine tumor, grade 1/2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015067 MONDO:0002882 True neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor colon neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015068 MONDO:0000386 True neuroendocrine tumor of rectum, well differentiated, low or intermediate grade digestive system neuroendocrine tumor, grade 1/2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015068 MONDO:0003646 True neuroendocrine tumor of rectum, well differentiated, low or intermediate grade rectum neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015068 MONDO:0000386 True rectal neuroendocrine tumor digestive system neuroendocrine tumor, grade 1/2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015068 MONDO:0003646 True rectal neuroendocrine tumor rectum neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015069 MONDO:0003504 True neuroendocrine tumor of the anal canal anal canal neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015070 MONDO:0005586 True laryngeal neuroendocrine neoplasm head and neck neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015070 MONDO:0019496 True laryngeal neuroendocrine neoplasm neuroendocrine neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -12739,8 +12738,6 @@ MONDO:0015109 MONDO:0019817 True congenital anomaly of the mitral subvalvular ap MONDO:0015129 MONDO:0000004 True chronic primary adrenal insufficiency adrenocortical insufficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0015129 MONDO:0015128 True chronic primary adrenal insufficiency primary adrenal insufficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015137 MONDO:0019751 True periodic fever syndrome autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015140 MONDO:0015547 True early-onset autosomal dominant Alzheimer disease hereditary dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015140 MONDO:0024237 True early-onset autosomal dominant Alzheimer disease inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015146 MONDO:0018838 True classic lissencephaly lissencephaly spectrum disorders UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015148 MONDO:0018838 True lissencephaly type 3 lissencephaly spectrum disorders UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0015149 MONDO:0019064 True pure hereditary spastic paraplegia hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -13387,7 +13384,7 @@ MONDO:0016283 MONDO:0016280 True leiomyosarcoma of the cervix uteri sarcoma of c MONDO:0016284 MONDO:0016280 True primitive neuroectodermal tumor of the cervix uteri sarcoma of cervix uteri UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016290 MONDO:0015159 True Hernández-Aguirre Negrete syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016291 MONDO:0015338 True craniosynostosis, Herrmann-Opitz type syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016293 MONDO:0004587 True congenital stationary night blindness hereditary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED +MONDO:0016293 MONDO:0004588 True congenital stationary night blindness night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING SUPPORTED MONDO:0016294 MONDO:0015161 True Hirschsprung disease-type D brachydactyly syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016295 MONDO:0019245 True neuronal ceroid lipofuscinosis lysosomal lipid storage disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0016295 MONDO:0024237 True neuronal ceroid lipofuscinosis inherited neurodegenerative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -14958,7 +14955,6 @@ MONDO:0018772 MONDO:0002254 True Joubert syndrome syndromic disease UNSUPPORTED- MONDO:0018772 MONDO:0005308 True Joubert syndrome ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0018773 MONDO:0015362 True autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018773 MONDO:0018943 True autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome myofibrillar myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018774 MONDO:0019270 True erythrokeratodermia-cardiomyopathy syndrome erythrokeratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018776 MONDO:0015626 True demyelinating hereditary motor and sensory neuropathy Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018777 MONDO:0019280 True autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome hypertrichosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018778 MONDO:0015626 True intermediate Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -15280,6 +15276,7 @@ MONDO:0019214 MONDO:0019052 True inborn carbohydrate metabolic disorder inborn e MONDO:0019215 MONDO:0000688 True classic organic aciduria inborn organic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019218 MONDO:0019256 True inborn disorder of bile acid synthesis sterol metabolism disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019219 MONDO:0019250 True inborn disorder of neurotransmitter metabolism and transport inborn disorder of biogenic amine metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019220 MONDO:0005528 True inborn disorder of cobalamin metabolism and transport inborn vitamin metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0019220 MONDO:0017758 True inborn disorder of cobalamin metabolism and transport disorder of vitamin and non-protein cofactor absorption and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019222 MONDO:0019189 True inborn disorder of methionine cycle and sulfur amino acid metabolism inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019223 MONDO:0019243 True disorder of fatty acid and ketone body metabolism inborn disorder of energy metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -15321,6 +15318,7 @@ MONDO:0019259 MONDO:0009861 True classic phenylketonuria phenylketonuria UNSUPPO MONDO:0019260 MONDO:0016295 True adult neuronal ceroid lipofuscinosis neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019261 MONDO:0016295 True infantile neuronal ceroid lipofuscinosis neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019262 MONDO:0016295 True juvenile neuronal ceroid lipofuscinosis neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019263 MONDO:0001676 True autosomal erythropoietic protoporphyria erythropoietic protoporphyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019264 MONDO:0017779 True alpha-N-acetylgalactosaminidase deficiency type 3 alpha-N-acetylgalactosaminidase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING SUPPORTED MONDO:0019265 MONDO:0017186 True diazoxide-resistant focal hyperinsulinism diazoxide-resistant hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019266 MONDO:0019751 True SAPHO syndrome autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -15439,7 +15437,6 @@ MONDO:0019438 MONDO:0019065 True AL amyloidosis amyloidosis UNSUPPORTED-MISSING MONDO:0019439 MONDO:0016345 True AA amyloidosis non-familial restrictive cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019439 MONDO:0019065 True AA amyloidosis amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING SUPPORTED MONDO:0019440 MONDO:0018590 True wild type ABeta2M amyloidosis ABeta2M amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019441 MONDO:0007100 True ATTRV122I amyloidosis familial amyloid neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019441 MONDO:0016340 True ATTRV122I amyloidosis familial restrictive cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019443 MONDO:0000153 True dextro-looped transposition of the great arteries transposition of the great arteries UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019443 MONDO:0005453 True dextro-looped transposition of the great arteries congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -15558,8 +15555,11 @@ MONDO:0019582 MONDO:0019446 True self-healing papular mucinosis localized lichen MONDO:0019583 MONDO:0019447 True localized lichen myxedematosus with mixed features of different subtypes atypical lichen myxedematosus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019584 MONDO:0019447 True localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms atypical lichen myxedematosus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019585 MONDO:0019447 True scleromyxedema without monoclonal gammopathy atypical lichen myxedematosus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019586 MONDO:0019497 True X-linked nonsyndromic hearing loss nonsyndromic genetic hearing loss UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0019587 MONDO:0000426 True autosomal dominant nonsyndromic hearing loss autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019587 MONDO:0019497 True autosomal dominant nonsyndromic hearing loss nonsyndromic genetic hearing loss UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0019588 MONDO:0006025 True hearing loss, autosomal recessive autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0019588 MONDO:0019497 True hearing loss, autosomal recessive nonsyndromic genetic hearing loss UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0019600 MONDO:0015951 True xeroderma pigmentosum hereditary photodermatosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019605 MONDO:0019722 True immunotactoid or fibrillary glomerulopathy glomerular disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019606 MONDO:0015923 True simple cryoglobulinemia acquired peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -16086,6 +16086,7 @@ MONDO:0020653 MONDO:0001704 True vaginal adenocarcinoma vaginal glandular neopla MONDO:0020653 MONDO:0004970 True vaginal adenocarcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020653 MONDO:0015867 True vaginal adenocarcinoma vaginal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020654 MONDO:0040679 True renal pelvis/ureter urothelial carcinoma urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020655 MONDO:0005306 True juvenile ankylosing spondylitis ankylosing spondylitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0020656 MONDO:0018352 True human papillomavirus-related penile squamous cell carcinoma squamous cell carcinoma of penis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020656 MONDO:0020657 True human papillomavirus-related penile squamous cell carcinoma human papillomavirus-related squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020657 MONDO:0005096 True human papillomavirus-related squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -16131,7 +16132,7 @@ MONDO:0020741 MONDO:0009945 True pyridoxine-dependent epilepsy caused by ALDH7A1 MONDO:0020743 MONDO:0019460 True mixed phenotype acute leukemia acute leukemia of ambiguous lineage UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020746 MONDO:0020937 True contractures, pterygia, and variable skeletal fusions syndrome 1B contractures, pterygia, and variable skeletal fusions syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0020747 MONDO:0008863 True sitosterolemia 1 sitosterolemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0020748 MONDO:0008863 True sitosterolemia 2 sitosterolemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0020748 MONDO:0008863 True sitosterolemia 2 sitosterolemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0020749 MONDO:0009092 True polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0020750 MONDO:0009092 True polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0020751 MONDO:0021272 True orthostatic hypotension 2 inherited orthostatic hypotension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -16663,7 +16664,7 @@ MONDO:0021532 MONDO:0021510 True fibroma of prostate benign neoplasm of prostate MONDO:0021533 MONDO:0000386 True intestinal neuroendocrine tumor G1 digestive system neuroendocrine tumor, grade 1/2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021533 MONDO:0002883 True intestinal neuroendocrine tumor G1 intestinal neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021534 MONDO:0006162 True rectal neuroendocrine tumor G1 colorectal neuroendocrine tumor G1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021534 MONDO:0015068 True rectal neuroendocrine tumor G1 neuroendocrine tumor of rectum, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021534 MONDO:0015068 True rectal neuroendocrine tumor G1 rectal neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021535 MONDO:0019954 True pancreatic neuroendocrine tumor G1 pancreatic neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021537 MONDO:0015459 True undifferentiated carcinoma of nasopharynx nasopharyngeal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021538 MONDO:0004958 True verrucous carcinoma of oral cavity oral cavity squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -16888,7 +16889,7 @@ MONDO:0024538 MONDO:0008947 True basal ganglia calcification, idiopathic, 1 bila MONDO:0024539 MONDO:0008982 True choroidal dystrophy, central areolar, 1 central areolar choroidal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024540 MONDO:0002441 True Jervell and Lange-Nielsen syndrome 1 Jervell and Lange-Nielsen syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024541 MONDO:0009105 True trichohepatoenteric syndrome 1 trichohepatoenteric syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0024542 MONDO:0009133 True cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 cerebellar ataxia, intellectual disability, and dysequilibrium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0024542 MONDO:0009133 True cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 cerebellar ataxia, intellectual disability, and dysequilibrium UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0024543 MONDO:0009242 True brittle cornea syndrome 1 brittle cornea syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024545 MONDO:0009685 True Miyoshi muscular dystrophy 1 Miyoshi myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0024546 MONDO:0016620 True hypertrophic osteoarthropathy, primary, autosomal recessive, 1 primary hypertrophic osteoarthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -16915,7 +16916,7 @@ MONDO:0024568 MONDO:0000023 True infantile liver failure syndrome 1 infantile li MONDO:0024573 MONDO:0005045 True familial hypertrophic cardiomyopathy hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0024582 MONDO:0003150 True male reproductive system neoplasm male reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024582 MONDO:0006054 True male reproductive system neoplasm reproductive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024607 MONDO:0019950 True congenital muscular dystrophy with cataracts and intellectual disability congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0024607 MONDO:0019950 True congenital muscular dystrophy with cataracts and intellectual disability congenital muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0024608 MONDO:0002428 True dientamoebiasis protozoa infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0024609 MONDO:0002195 True vulvar squamous cell carcinoma vulvar squamous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024609 MONDO:0005096 True vulvar squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -17202,7 +17203,7 @@ MONDO:0030518 MONDO:0018053 True trichothiodystrophy 9, nonphotosensitive tricho MONDO:0030519 MONDO:0015977 True agammaglobulinemia 9, autosomal recessive agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0030522 MONDO:0004983 True spermatogenic failure 64 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0030523 MONDO:0014769 True oocyte maturation defect 12 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030524 MONDO:0019249 True mucopolysaccharidosis, type 10 mucopolysaccharidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030524 MONDO:0019249 True mucopolysaccharidosis, type 10 mucopolysaccharidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030525 MONDO:0017610 True epidermolysis bullosa simplex 2B, generalized intermediate epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030527 MONDO:0017610 True epidermolysis bullosa simplex 2C, localized epidermolysis bullosa simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030528 MONDO:0021094 True immunodeficiency 93 and hypertrophic cardiomyopathy immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -17559,7 +17560,7 @@ MONDO:0032794 MONDO:0018998 True leber congenital amaurosis 19 Leber congenital MONDO:0032796 MONDO:0018037 True hyper-IgE recurrent infection syndrome 4, autosomal recessive hyper-IgE syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0032797 MONDO:0019952 True myopathy, congenital, with tremor congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0032799 MONDO:0018158 True mitochondrial DNA depletion syndrome 16 (hepatic type) mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032800 MONDO:0019978 True robinow syndrome, autosomal recessive 2 Robinow syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0032800 MONDO:0019978 True robinow syndrome, autosomal recessive 2 Robinow syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0032801 MONDO:0017851 True erythrokeratodermia variabilis et progressiva 6 erythrokeratodermia variabilis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0032802 MONDO:0019587 True hearing loss, autosomal dominant 37 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0032803 MONDO:0021094 True immunodeficiency 64 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -17611,7 +17612,7 @@ MONDO:0032891 MONDO:0016483 True aneurysm, intracranial berry, 12 intracranial b MONDO:0032895 MONDO:0100062 True developmental and epileptic encephalopathy, 83 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0032896 MONDO:0004983 True spermatogenic failure 42 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0032898 MONDO:0004983 True spermatogenic failure 43 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0032899 MONDO:0018542 True neutropenia, severe congenital, 8, autosomal dominant severe congenital neutropenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0032899 MONDO:0018542 True neutropenia, severe congenital, 8, autosomal dominant severe congenital neutropenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0032902 MONDO:0018772 True Joubert syndrome 36 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0032903 MONDO:0015168 True arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0032904 MONDO:0007379 True corneal dystrophy, Meesmann, 2 Meesmann corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED @@ -18007,8 +18008,8 @@ MONDO:0044318 MONDO:0015159 True intellectual developmental disorder with gastro MONDO:0044319 MONDO:0015159 True intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044319 MONDO:0015653 True intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies monogenic epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044320 MONDO:0019200 True retinitis pigmentosa 79 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0044325 MONDO:0019391 True Fanconi anemia, complementation group W Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0044327 MONDO:0000447 True polycystic liver disease 4 with or without kidney cysts autosomal dominant polycystic liver disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0044325 MONDO:0019391 True Fanconi anemia, complementation group W Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0044327 MONDO:0000447 True polycystic liver disease 4 with or without kidney cysts autosomal dominant polycystic liver disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0044328 MONDO:0018770 True short-rib thoracic dysplasia 20 with polydactyly Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0044330 MONDO:0021022 True hyperekplexia 4 hereditary hyperekplexia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0044332 MONDO:0015548 True childhood-onset benign chorea with striatal involvement Huntington disease-like syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -18232,8 +18233,8 @@ MONDO:0054739 MONDO:0009046 True Fraser syndrome 3 Fraser syndrome UNSUPPORTED-M MONDO:0054740 MONDO:0007339 True blepharocheilodontic syndrome 1 blepharocheilodontic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0054741 MONDO:0000732 True combined oxidative phosphorylation deficiency 34 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0054742 MONDO:0000732 True combined oxidative phosphorylation deficiency 35 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0054743 MONDO:0000447 True polycystic liver disease 3 with or without kidney cysts autosomal dominant polycystic liver disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0054748 MONDO:0019391 True Fanconi anemia, complementation group S Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0054743 MONDO:0000447 True polycystic liver disease 3 with or without kidney cysts autosomal dominant polycystic liver disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0054748 MONDO:0019391 True Fanconi anemia, complementation group S Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0054752 MONDO:0017923 True multiple synostoses syndrome 4 multiple synostoses syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0054761 MONDO:0016660 True microcephaly 20, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0054763 MONDO:0018307 True neurodegeneration with brain iron accumulation 7 neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -18435,7 +18436,6 @@ MONDO:0100527 MONDO:0016357 True dysplastic cortical hyperostosis, Kozlowski-Tsu MONDO:0100528 MONDO:0014805 True Hao-Fountain syndrome due to 16p13.2 microdeletion Hao-Fountain syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100528 MONDO:0016894 True Hao-Fountain syndrome due to 16p13.2 microdeletion partial deletion of the short arm of chromosome 16 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100534 MONDO:0006260 True SMARCB1-deficient kidney medullary carcinoma kidney medullary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100552 MONDO:0007100 True ATTRV30M amyloidosis familial amyloid neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100567 MONDO:0019623 True hereditary angioedema with normal C1Inh hereditary angioedema UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0200000 MONDO:0003612 True uterine ligament adenosarcoma uterine ligament cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0600030 MONDO:0004947 True B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) B-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -18478,7 +18478,6 @@ MONDO:0800027 MONDO:0019046 True leukoencephalopathy, diffuse hereditary, with s MONDO:0800027 MONDO:0030796 True leukoencephalopathy, diffuse hereditary, with spheroids 1 leukoencephalopathy, hereditary diffuse, with spheroids UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0800028 MONDO:0031115 True dyskinesia with orofacial involvement, autosomal dominant dyskinesia with orofacial involvement UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0800029 MONDO:0002429 True interstitial lung disease 2 idiopathic interstitial pneumonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0800029 MONDO:0002771 True interstitial lung disease 2 pulmonary fibrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0800029 MONDO:0031199 True interstitial lung disease 2 inherited interstitial lung disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0800030 MONDO:0030831 True gastrointestinal defects and immunodeficiency syndrome 1 gastrointestinal defect and immunodeficiency syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0800042 MONDO:0031213 True restrictive dermopathy 1 restrictive dermopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED @@ -18683,6 +18682,7 @@ MONDO:0859237 MONDO:0017359 True 3-methylglutaconic aciduria, type VIIA 3-methyl MONDO:0859242 MONDO:0019046 True leukodystrophy, hypomyelinating, 24 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0859245 MONDO:0015244 True spinocerebellar ataxia, autosomal recessive 32 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0859264 MONDO:0019952 True congenital myopathy 11 congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859267 MONDO:0015356 True tumor predisposition syndrome 2 hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859279 MONDO:0015363 True spinal muscular atrophy, distal, autosomal recessive, 6 neuronopathy, distal hereditary motor, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0859280 MONDO:0003847 True developmental delay, hypotonia, and impaired language hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0859300 MONDO:0015362 True neuronopathy, distal hereditary motor, autosomal dominant 10 neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED @@ -18699,8 +18699,8 @@ MONDO:0859321 MONDO:0020811 True mitochondrial complex 3 deficiency, nuclear typ MONDO:0859323 MONDO:0000732 True combined oxidative phosphorylation deficiency 56 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0859325 MONDO:0100062 True developmental and epileptic encephalopathy 109 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0859327 MONDO:0100062 True developmental and epileptic encephalopathy 110 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0859328 MONDO:0018100 True hypomagnesemia 7, renal, with or without dilated cardiomyopathy familial primary hypomagnesemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859329 MONDO:0000141 True mosaic variegated aneuploidy syndrome 4 mosaic variegated aneuploidy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859328 MONDO:0018100 True hypomagnesemia 7, renal, with or without dilated cardiomyopathy familial primary hypomagnesemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0859329 MONDO:0000141 True mosaic variegated aneuploidy syndrome 4 mosaic variegated aneuploidy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0859330 MONDO:0014769 True oocyte maturation defect 13 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0859332 MONDO:0000904 True cortical dysplasia, complex, with other brain malformations 11 complex cortical dysplasia with other brain malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0859333 MONDO:0100172 True intellectual developmental disorder, autosomal dominant 70 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -18709,10 +18709,10 @@ MONDO:0859335 MONDO:0019952 True congenital myopathy 15 congenital myopathy UNSU MONDO:0859337 MONDO:0000732 True combined oxidative phosphorylation deficiency 57 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0859338 MONDO:0004983 True spermatogenic failure 78 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0859339 MONDO:0005486 True tooth agenesis, selective, 10 tooth agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859340 MONDO:0020380 True spinocerebellar ataxia 27B, late-onset autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859340 MONDO:0020380 True spinocerebellar ataxia 27B, late-onset autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0859341 MONDO:0003037 True hypotrichosis 15 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0859342 MONDO:0016660 True microcephaly 30, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859346 MONDO:0000141 True mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition mosaic variegated aneuploidy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859346 MONDO:0000141 True mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition mosaic variegated aneuploidy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0859352 MONDO:0004983 True spermatogenic failure 79 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0859353 MONDO:0016575 True ciliary dyskinesia, primary, 49, without situs inversus primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0859354 MONDO:0031432 True thyroid hormone metabolism, abnormal, 3 thyroid hormone metabolism, abnormal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -18849,7 +18849,7 @@ MONDO:0957284 MONDO:0018958 True nemaline myopathy 5C, autosomal dominant nemali MONDO:0957288 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 79 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0957294 MONDO:0000148 True pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9 pulmonary fibrosis and/or bone marrow failure, telomere-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0957301 MONDO:0004983 True spermatogenic failure 84 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957303 MONDO:0968949 True palmoplantar keratoderma, epidermolytic, 2 palmoplantar keratoderma, epidermolytic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957303 MONDO:0968949 True palmoplantar keratoderma, epidermolytic, 2 palmoplantar keratoderma, epidermolytic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0957308 MONDO:0019064 True spastic paraplegia 90A, autosomal dominant hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0957309 MONDO:0019064 True spastic paraplegia 90B, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0957317 MONDO:0003847 True hematuria, benign familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -18903,6 +18903,7 @@ MONDO:0957788 MONDO:0019064 True spastic paraplegia 18a, autosomal dominant here MONDO:0957809 MONDO:0018542 True neutropenia, severe congenital, 10, autosomal recessive severe congenital neutropenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0957810 MONDO:0003847 True developmental delay, dysmorphic facies, and brain anomalies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0957812 MONDO:0100062 True developmental and epileptic encephalopathy 112 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957813 MONDO:0019064 True spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0957819 MONDO:0019942 True arthrogryposis, distal, type 12 distal arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0957820 MONDO:0005501 True congenital disorder of glycosylation, type IIbb congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0957821 MONDO:0004983 True spermatogenic failure 88 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -19106,12 +19107,44 @@ MONDO:0971014 MONDO:0008855 True MHC class II deficiency 3 MHC class II deficien MONDO:0971015 MONDO:0008855 True MHC class II deficiency 4 MHC class II deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0971016 MONDO:0008855 True MHC class II deficiency 5 MHC class II deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0971044 MONDO:0020066 True Ehlers-Danlos syndrome, classic-like, 3 Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0971047 MONDO:0015159 True PRC-2 complex-related overgrowth spectrum multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0971047 MONDO:0019716 True PRC-2 complex-related overgrowth spectrum overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0971049 MONDO:0044688 True single isolated optic neuritis isolated optic neuritis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0971050 MONDO:0044688 True relapsing isolated optic neuritis isolated optic neuritis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0971058 MONDO:0018984 True verruga peruana Oroya fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0971062 MONDO:0859257 True developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0971063 MONDO:0016812 True autosomal dominant dopa-responsive dystonia dopa-responsive dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0971063 MONDO:0019052 True autosomal dominant dopa-responsive dystonia inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0971063 MONDO:0044807 True autosomal dominant dopa-responsive dystonia inherited dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0971064 MONDO:0015159 True orofacial clefting-cardiac anomalies-facial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0971066 MONDO:0017313 True megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency disorder of folate metabolism and transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0971068 MONDO:0011652 True Phelan-McDermid syndrome due to 22q13.3 deletion Phelan-McDermid syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0971068 MONDO:0022760 True Phelan-McDermid syndrome due to 22q13.3 deletion chromosome 22q deletion UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0971069 MONDO:0011652 True Phelan-McDermid syndrome due to SHANK3 mutation Phelan-McDermid syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0971077 MONDO:0019046 True episodic memory defect leukoencephalopathy leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0971091 MONDO:0018872 True acute megakaryoblastic leukemia in adult acute megakaryoblastic leukemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0971092 MONDO:0016064 True soft and hard cleft palate cleft palate UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0971094 MONDO:0016460 True cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation polyvalvular heart disease syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0971095 MONDO:0016460 True 6q25.1 microdeletion syndrome polyvalvular heart disease syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0971095 MONDO:0016905 True 6q25.1 microdeletion syndrome partial deletion of the long arm of chromosome 6 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0971107 MONDO:0018072 True common arterial trunk with aortic dominance persistent truncus arteriosus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0971108 MONDO:0018072 True common arterial trunk with pulmonary dominance and interrupted aortic arch persistent truncus arteriosus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0971118 MONDO:0016691 True pilocytic astrocytoma with histological features of anaplasia pilocytic astrocytoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0971133 MONDO:0016223 True isolated segmental infantile hemangioma infantile hemangioma of rare localization UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0971137 MONDO:0015159 True severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0971138 MONDO:0015159 True progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0971138 MONDO:0017739 True progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN disorder of lysosomal-related organelles UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0971141 MONDO:0006292 True localized pleural mesothelioma malignant mesothelioma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0971142 MONDO:0006292 True diffused pleural mesothelioma malignant mesothelioma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0971143 MONDO:0006292 True pleural mesothelioma in situ malignant mesothelioma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0971149 MONDO:0019064 True spastic paraplegia 30b, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0971150 MONDO:0015363 True neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity neuronopathy, distal hereditary motor, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0971151 MONDO:0021094 True immunodeficiency 122 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0971152 MONDO:0019588 True hearing loss, autosomal recessive 125 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0971154 MONDO:0002520 True hepatic cutaneous porphyria hepatic porphyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0971171 MONDO:0015152 True muscular dystrophy, limb-girdle, autosomal recessive 29 autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0971174 MONDO:0017338 True multiple mitochondrial dysfunctions syndrome 9b fatal multiple mitochondrial dysfunctions syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0971177 MONDO:0021094 True immunodeficiency 123 with HPV-related verrucosis immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:1040033 MONDO:0019950 True congenital muscular dystrophy without intellectual disability congenital muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:8000006 MONDO:0023880 True WHIM syndrome 1 WHIM syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:8000008 MONDO:0015159 True Martsolf syndrome 1 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -19314,7 +19347,6 @@ MONDO:0000409 MONDO:0045013 False chorioamnionitis disorder of extraembryonic me MONDO:0000410 MONDO:0021562 False funisitis omphalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000410 MONDO:0024575 False funisitis pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000421 MONDO:0019239 False inborn serine deficiency inborn disorder of serine family metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000424 MONDO:0020696 False inborn vitamin B12 deficiency vitamin B12 deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000437 MONDO:0005395 False cerebellar ataxia movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000437 MONDO:0100308 False cerebellar ataxia atactic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000440 MONDO:0006022 False metabolic acidosis acidosis disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -19548,7 +19580,7 @@ MONDO:0001068 MONDO:0800486 False osteomalacia metabolic bone disorder UNSUPPORT MONDO:0001073 MONDO:0700007 False idiopathic progressive polyneuropathy idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001074 MONDO:0005395 False chronic tic disorder movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001075 MONDO:0005020 False steatorrhea intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0001076 MONDO:0011731 False glucose intolerance glucose-galactose malabsorption UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001076 MONDO:0011731 False glucose intolerance glucose-galactose malabsorption UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001078 MONDO:0020598 False tropical sprue malabsorption syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001079 MONDO:0001075 False pancreatic steatorrhea steatorrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001080 MONDO:0021157 False acute gonococcal cervicitis gonococcal cervicitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -20080,6 +20112,7 @@ MONDO:0002565 MONDO:0005156 False myelitis encephalomyelitis UNSUPPORTED-MISSING MONDO:0002567 MONDO:0000270 False tracheal disorder lower respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002571 MONDO:0004949 False primary central nervous system lymphoma neoplasm of mature B-cells UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002572 MONDO:0043905 False aspiration pneumonitis pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002574 MONDO:0700275 False prostate embryonal rhabdomyosarcoma prostate cancer, hereditary UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002577 MONDO:0002849 False extrahepatic bile duct rhabdomyosarcoma liver rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002579 MONDO:0023603 False orbit embryonal rhabdomyosarcoma hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002581 MONDO:0002927 False spindle cell rhabdomyosarcoma spindle cell sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -20617,7 +20650,6 @@ MONDO:0004582 MONDO:0006955 False rheumatic myocarditis rheumatic heart disease MONDO:0004584 MONDO:0005766 False maple bark strippers' lung fungal lung infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004584 MONDO:0017853 False maple bark strippers' lung hypersensitivity pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004585 MONDO:0024575 False polyhydramnios pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004587 MONDO:0100545 False hereditary night blindness hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004588 MONDO:0001941 False night blindness blindness (disorder) UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004591 MONDO:0024575 False impetigo herpetiformis pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004592 MONDO:0005545 False impetigo staphylococcus aureus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -20783,7 +20815,6 @@ MONDO:0004971 MONDO:0004970 False adenoid cystic carcinoma adenocarcinoma UNSUPP MONDO:0004973 MONDO:0056806 False adenosquamous lung carcinoma non-small cell squamous lung carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004975 MONDO:0001627 False Alzheimer disease dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004976 MONDO:0003182 False amyotrophic lateral sclerosis anterior horn disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004980 MONDO:0100118 False atopic eczema hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004981 MONDO:0007263 False atrial fibrillation cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004982 MONDO:0021166 False pancreatitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004983 MONDO:0003847 False spermatogenic failure hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -21744,7 +21775,6 @@ MONDO:0006577 MONDO:0006858 False maxillary sinus cholesteatoma mouth disorder U MONDO:0006577 MONDO:0023369 False maxillary sinus cholesteatoma disorder of facial skeleton UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006580 MONDO:0002254 False miliaria syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006589 MONDO:0100366 False occupational dermatitis occupational disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0006591 MONDO:0003900 False panniculitis connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006591 MONDO:0021166 False panniculitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006595 MONDO:0005154 False perinatal jaundice due to hepatocellular damage liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006596 MONDO:0006597 False photoallergic dermatitis photosensitivity disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -22032,8 +22062,6 @@ MONDO:0007085 MONDO:0002051 False alopecia-epilepsy-pyorrhea-intellectual disabi MONDO:0007085 MONDO:0002254 False alopecia-epilepsy-pyorrhea-intellectual disability syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007085 MONDO:0003847 False alopecia-epilepsy-pyorrhea-intellectual disability syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007088 MONDO:0015140 False Alzheimer disease type 1 early-onset autosomal dominant Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007089 MONDO:0015547 False Alzheimer disease 2 hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007089 MONDO:0024237 False Alzheimer disease 2 inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007089 MONDO:0100087 False Alzheimer disease 2 familial Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007090 MONDO:0003847 False amastia, bilateral, with ureteral triplication and dysmorphism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007091 MONDO:0003847 False amelia and terminal transverse hemimelia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22359,6 +22387,7 @@ MONDO:0007488 MONDO:0015547 False Lewy body dementia hereditary dementia UNSUPPO MONDO:0007491 MONDO:0003847 False dystelephalangy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007492 MONDO:0100016 False early-onset generalized limb-onset dystonia early-onset generalized dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007495 MONDO:0100184 False dystonia 5 GTP cyclohydrolase I deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007495 MONDO:0971063 False dystonia 5 autosomal dominant dopa-responsive dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007496 MONDO:0021095 False dystonia 12 parkinsonian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007496 MONDO:0700002 False dystonia 12 ATP1A3-associated neurological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007497 MONDO:0003847 False ear antitragus, tag at base of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22598,7 +22627,8 @@ MONDO:0007811 MONDO:0003847 False ichthyosis-cheek-eyebrow syndrome hereditary d MONDO:0007812 MONDO:0017778 False ichthyosis, lamellar, autosomal dominant lamellar ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007813 MONDO:0017339 False superficial epidermolytic ichthyosis exfoliative ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007814 MONDO:0015517 False immune deficiency, familial variable common variable immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0007817 MONDO:0004980 False IgE responsiveness, atopic atopic eczema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007817 MONDO:0000605 False IgE responsiveness, atopic hypersensitivity reaction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007817 MONDO:0003847 False IgE responsiveness, atopic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007819 MONDO:0007733 False solitary median maxillary central incisor syndrome holoprosencephaly 3 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007819 MONDO:0017219 False solitary median maxillary central incisor syndrome microform holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007820 MONDO:0003847 False fused mandibular incisors hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22676,9 +22706,10 @@ MONDO:0007912 MONDO:0003847 False lithium transport hereditary disease UNSUPPORT MONDO:0007913 MONDO:0003847 False low density lipoprotein, variation in molecular weight of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007914 MONDO:0003847 False lumbar stenosis, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007917 MONDO:0002254 False lymphedema-cerebral arteriovenous anomaly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007918 MONDO:0001149 False microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007918 MONDO:0019313 False microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0007918 MONDO:0021147 False microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007918 MONDO:0043218 False microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007918 MONDO:0100500 False microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007920 MONDO:0000486 False lymphatic malformation 5 craniofacial dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007920 MONDO:0043218 False lymphatic malformation 5 neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007920 MONDO:0044807 False lymphatic malformation 5 inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING @@ -22711,6 +22742,7 @@ MONDO:0007950 MONDO:0003847 False mastocytosis hereditary disease UNSUPPORTED-MI MONDO:0007951 MONDO:0003847 False masticatory muscles, hypertrophy of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007952 MONDO:0003847 False maxillofacial dysostosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007955 MONDO:0003847 False Meckel diverticulum hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007955 MONDO:0004335 False Meckel diverticulum digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007957 MONDO:0003847 False mediosternal depigmentation line hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007958 MONDO:0019003 False familial medullary thyroid carcinoma multiple endocrine neoplasia type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007961 MONDO:0016608 False megalencephaly, autosomal dominant megalencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22925,6 +22957,7 @@ MONDO:0008209 MONDO:0015160 False Char syndrome multiple congenital anomalies/dy MONDO:0008211 MONDO:0005495 False pseudoleprechaunism syndrome, Patterson type adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008212 MONDO:0003847 False Pechet factor deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008213 MONDO:0003847 False pectus excavatum hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008214 MONDO:0004805 False Pelger-Huet anomaly leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008214 MONDO:0021106 False Pelger-Huet anomaly laminopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008215 MONDO:0021106 False adult-onset autosomal dominant demyelinating leukodystrophy laminopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008216 MONDO:0003847 False pelvic lipomatosis with crossed renal ectopia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23892,6 +23925,7 @@ MONDO:0009364 MONDO:0700070 False muscular dystrophy-dystroglycanopathy (congeni MONDO:0009371 MONDO:0019242 False 3-hydroxyisobutyric aciduria inborn disorder of branched-chain amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009371 MONDO:0037870 False 3-hydroxyisobutyric aciduria valine metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009374 MONDO:0003847 False hydroxyprolinemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009375 MONDO:0002263 False hymen, imperforate female reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009375 MONDO:0003847 False hymen, imperforate hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009376 MONDO:0800153 False carbamoyl phosphate synthetase I deficiency disease urea cycle disorder or inherited hyperammonemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009377 MONDO:0800153 False hyperammonemia due to N-acetylglutamate synthase deficiency urea cycle disorder or inherited hyperammonemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24605,7 +24639,7 @@ MONDO:0010246 MONDO:0100148 False developmental and epileptic encephalopathy, 9 MONDO:0010248 MONDO:0016761 False X-linked spondyloepimetaphyseal dysplasia spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010252 MONDO:0100195 False intellectual disability, X-linked, with panhypopituitarism X-linked intellectual disability with hypopituitarism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010255 MONDO:0020573 False diabetes mellitus, insulin-dependent, X-linked, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010257 MONDO:0023122 False prostate cancer, hereditary, X-linked 1 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010257 MONDO:0700275 False prostate cancer, hereditary, X-linked 1 prostate cancer, hereditary UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010260 MONDO:0003847 False arthrogryposis, congenital, lower limb, X-linked hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010262 MONDO:0003847 False hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010264 MONDO:0002320 False X-linked adrenal hypoplasia congenita congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -24690,7 +24724,7 @@ MONDO:0010401 MONDO:0010680 False X-linked myopathy with postural muscle atrophy MONDO:0010401 MONDO:0800462 False X-linked myopathy with postural muscle atrophy FHL1-related myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010403 MONDO:0043209 False albinism-hearing loss syndrome albinism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010403 MONDO:0100118 False albinism-hearing loss syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010405 MONDO:0023122 False prostate cancer, hereditary, X-linked 2 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010405 MONDO:0700275 False prostate cancer, hereditary, X-linked 2 prostate cancer, hereditary UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010408 MONDO:0800066 False syndactyly-telecanthus-anogenital and renal malformations syndrome polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010410 MONDO:0005339 False alopecia, androgenetic, 2 androgenetic alopecia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010412 MONDO:0020119 False X-linked intellectual disability-craniofacioskeletal syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING @@ -24792,6 +24826,7 @@ MONDO:0010573 MONDO:0003847 False cutis verticis gyrata, thyroid aplasia, and in MONDO:0010574 MONDO:0002320 False syndromic X-linked intellectual disability 5 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010575 MONDO:0002254 False deafness-hypogonadism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010576 MONDO:0002467 False X-linked mixed hearing loss with perilymphatic gusher inner ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010576 MONDO:0016297 False X-linked mixed hearing loss with perilymphatic gusher prelingual non-syndromic genetic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010576 MONDO:0018751 False X-linked mixed hearing loss with perilymphatic gusher hereditary otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010579 MONDO:0000942 False X-linked corneal dermoid corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010579 MONDO:0002254 False X-linked corneal dermoid syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24960,8 +24995,6 @@ MONDO:0010776 MONDO:0003847 False hypomagnesemia, hypertension, and hypercholest MONDO:0010777 MONDO:0003847 False cardiomyopathy, infantile hypertrophic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010778 MONDO:0100070 False cyclic vomiting syndrome neuroendocrine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010778 MONDO:0100545 False cyclic vomiting syndrome hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010779 MONDO:0016297 False mitochondrial non-syndromic sensorineural hearing loss prelingual non-syndromic genetic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010779 MONDO:0016298 False mitochondrial non-syndromic sensorineural hearing loss postlingual non-syndromic genetic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010781 MONDO:0021190 False ataxia and polyneuropathy, adult-onset DNA repair disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010784 MONDO:0003847 False chloramphenicol toxicity hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010785 MONDO:0015967 False maternally-inherited diabetes and deafness monogenic diabetes UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25188,11 +25221,12 @@ MONDO:0011080 MONDO:0003847 False progressive deafness with stapes fixation here MONDO:0011084 MONDO:0100171 False psoriasis 3, susceptibility to psoriasis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011088 MONDO:0020344 False congenital myasthenic syndrome 1A postsynaptic congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011089 MONDO:0003847 False patent ductus venosus hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011089 MONDO:0018811 False patent ductus venosus congenital portosystemic shunt UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011090 MONDO:0002320 False isolated hereditary congenital facial paralysis congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011090 MONDO:0100545 False isolated hereditary congenital facial paralysis hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011092 MONDO:0003847 False ribbing disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011093 MONDO:0005381 False mucopolysaccharidosis type 9 bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011098 MONDO:0023122 False prostate cancer, hereditary, 1 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011098 MONDO:0700275 False prostate cancer, hereditary, 1 prostate cancer, hereditary UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011099 MONDO:0002254 False human HOXA1 syndromes syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011100 MONDO:0003847 False microcephaly, retinitis pigmentosa, and sutural cataract hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011101 MONDO:0100259 False peroxisome biogenesis disorder 1B peroxisome biogenesis disorder due to PEX1 defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25219,12 +25253,12 @@ MONDO:0011126 MONDO:0020683 False acute insulin response acute disease UNSUPPORT MONDO:0011129 MONDO:0005338 False glaucoma type 1C open-angle glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011129 MONDO:0020366 False glaucoma type 1C congenital glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011130 MONDO:0003847 False sebaceous gland hyperplasia, familial presenile hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011134 MONDO:0015160 False Curry-Jones syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011134 MONDO:1030005 False Curry-Jones syndrome mosaic SMO syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011135 MONDO:0003847 False superior transverse scapular ligament, calcification of, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011137 MONDO:0800406 False retinitis pigmentosa 19 ABCA4-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011138 MONDO:0020573 False systemic lupus erythematosus, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011139 MONDO:0016018 False preaxial hallucal polydactyly diabetic embryopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011141 MONDO:0003847 False megaloblastic anemia, folate-responsive hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011141 MONDO:0971066 False megaloblastic anemia, folate-responsive megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011142 MONDO:0100547 False Ehlers-Danlos syndrome, musculocontractural type cardiogenetic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011143 MONDO:0100454 False cone-rod dystrophy 6 GUCY2D retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011144 MONDO:0008768 False ceroid lipofuscinosis, neuronal, 6A ceroid lipofuscinosis, neuronal, 6B (Kufs type) UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS @@ -25325,7 +25359,7 @@ MONDO:0011268 MONDO:0001909 False renal tubular acidosis, distal, 3, with or wit MONDO:0011268 MONDO:0015962 False renal tubular acidosis, distal, 3, with or without sensorineural hearing loss inherited renal tubular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011268 MONDO:0018440 False renal tubular acidosis, distal, 3, with or without sensorineural hearing loss autosomal recessive distal renal tubular acidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011268 MONDO:0019052 False renal tubular acidosis, distal, 3, with or without sensorineural hearing loss inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011270 MONDO:0023122 False prostate cancer, hereditary, 8 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011270 MONDO:0700275 False prostate cancer, hereditary, 8 prostate cancer, hereditary UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011271 MONDO:0018948 False rigid spine muscular dystrophy 1 multiminicore myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011271 MONDO:0019951 False rigid spine muscular dystrophy 1 rigid spine syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011271 MONDO:0100100 False rigid spine muscular dystrophy 1 SELENON-related myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25532,9 +25566,6 @@ MONDO:0011590 MONDO:0003847 False anisomastia hereditary disease UNSUPPORTED-MIS MONDO:0011591 MONDO:0011060 False cataract 26 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011593 MONDO:0100556 False seizures, benign familial infantile, 2 PRRT2-associated paroxysmal movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011594 MONDO:0003847 False ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011596 MONDO:0100178 False dermatitis, atopic, 2 dermatitis, atopic, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011597 MONDO:0100178 False dermatitis, atopic, 3 dermatitis, atopic, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011598 MONDO:0100178 False dermatitis, atopic, 4 dermatitis, atopic, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011600 MONDO:1040021 False congenital myasthenic syndrome 4A congenital myasthenic syndrome 4 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011603 MONDO:0007827 False GNE myopathy inclusion body myositis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0011603 MONDO:0009332 False GNE myopathy congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25543,8 +25574,6 @@ MONDO:0011604 MONDO:0800064 False spondylo-ocular syndrome osteogenesis imperfec MONDO:0011605 MONDO:0100118 False generalized basaloid follicular hamartoma syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011606 MONDO:0007037 False baby rattle pelvis dysplasia Achondroplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011607 MONDO:0100049 False narcolepsy 2, susceptibility to narcolepsy, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011608 MONDO:0100178 False dermatitis, atopic, 5 dermatitis, atopic, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011609 MONDO:0100178 False dermatitis, atopic, 6 dermatitis, atopic, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011610 MONDO:0100477 False dimethylglycine dehydrogenase deficiency disorder of methylamine metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011611 MONDO:0003847 False short stature, intellectual disability, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011612 MONDO:0005560 False glycine encephalopathy brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -25572,7 +25601,7 @@ MONDO:0011647 MONDO:0015140 False Alzheimer disease 7 early-onset autosomal domi MONDO:0011648 MONDO:0016642 False radiation-induced meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011650 MONDO:0020573 False atrioventricular septal defect, susceptibility to, 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011651 MONDO:0003847 False intellectual disability, short stature, facial anomalies, and joint dislocations hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011652 MONDO:0022760 False Phelan-McDermid syndrome chromosome 22q deletion UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011652 MONDO:0002254 False Phelan-McDermid syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011653 MONDO:0017895 False thyroid cancer, nonmedullary, 3 familial papillary or follicular thyroid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011654 MONDO:0003847 False intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011655 MONDO:0003847 False alveolar soft part sarcoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -25622,7 +25651,7 @@ MONDO:0011726 MONDO:0003847 False peripheral arterial occlusive disease 1 heredi MONDO:0011727 MONDO:0020573 False anorexia nervosa, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011729 MONDO:0020573 False stroke, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011730 MONDO:0004069 False fumaric aciduria inborn mitochondrial metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011731 MONDO:0005020 False glucose-galactose malabsorption intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011731 MONDO:0005020 False glucose-galactose malabsorption intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011733 MONDO:0003847 False parasomnia, sleep bruxism type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011734 MONDO:0003847 False Cardioneuromyopathy with hyaline masses and nemaline rods hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011736 MONDO:0003847 False Cree intellectual disability syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25721,6 +25750,7 @@ MONDO:0011885 MONDO:0005240 False tubulointerstitial nephritis and uveitis syndr MONDO:0011887 MONDO:0003847 False cataract, congenital, with mental impairment and dentate gyrus atrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011889 MONDO:0011909 False Charcot-Marie-Tooth disease type 2I Charcot-Marie-Tooth disease dominant intermediate D UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0011892 MONDO:0020573 False epilepsy, idiopathic generalized, susceptibility to, 9 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011893 MONDO:0019587 False autosomal dominant nonsyndromic hearing loss 52 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011895 MONDO:0005110 False idiopathic hypereosinophilic syndrome idiopathic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011895 MONDO:0016340 False idiopathic hypereosinophilic syndrome familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011896 MONDO:0020573 False Parkinson disease 11, autosomal dominant, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25837,8 +25867,8 @@ MONDO:0012089 MONDO:0002051 False ichthyosis prematurity syndrome integumentary MONDO:0012089 MONDO:0002254 False ichthyosis prematurity syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012089 MONDO:0003847 False ichthyosis prematurity syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012089 MONDO:0043905 False ichthyosis prematurity syndrome pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012093 MONDO:0023122 False prostate cancer, hereditary, 3 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0012094 MONDO:0023122 False prostate cancer, hereditary, 4 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012093 MONDO:0700275 False prostate cancer, hereditary, 3 prostate cancer, hereditary UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012094 MONDO:0700275 False prostate cancer, hereditary, 4 prostate cancer, hereditary UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012095 MONDO:0003847 False intellectual disability-brachydactyly-Pierre Robin syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012095 MONDO:0018234 False intellectual disability-brachydactyly-Pierre Robin syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012095 MONDO:0019054 False intellectual disability-brachydactyly-Pierre Robin syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25936,7 +25966,7 @@ MONDO:0012240 MONDO:0100196 False congenital myopathy 23 TPM2-related myopathy U MONDO:0012241 MONDO:0008003 False progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 autosomal dominant progressive external ophthalmoplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012242 MONDO:0003847 False syncope, familial vasovagal hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012243 MONDO:0003847 False B-cell immunodeficiency, distal limb anomalies, and urogenital malformations hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012244 MONDO:0023122 False prostate cancer, hereditary, 5 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012244 MONDO:0700275 False prostate cancer, hereditary, 5 prostate cancer, hereditary UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012245 MONDO:0016022 False developmental and epileptic encephalopathy, 3 early myoclonic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012248 MONDO:0700070 False autosomal recessive limb-girdle muscular dystrophy type 2K myopathy caused by variation in POMT1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012251 MONDO:0100118 False MEDNIK syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25970,7 +26000,7 @@ MONDO:0012295 MONDO:0000015 False complement component 5 deficiency classic comp MONDO:0012295 MONDO:0015700 False complement component 5 deficiency immunodeficiency due to a late component of complement deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012296 MONDO:0018075 False lipomyelomeningocele neural tube defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012298 MONDO:0003847 False omphalocele, diaphragmatic hernia, and radial ray defects hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012300 MONDO:0023122 False prostate cancer, hereditary, 6 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012300 MONDO:0700275 False prostate cancer, hereditary, 6 prostate cancer, hereditary UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012310 MONDO:0007614 False fibrosis of extraocular muscles, congenital, with synergistic divergence congenital fibrosis of extraocular muscles UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012311 MONDO:0003847 False spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012317 MONDO:0017574 False visceral neuropathy, familial, 3, autosomal dominant chronic intestinal pseudoobstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26063,7 +26093,7 @@ MONDO:0012462 MONDO:0021147 False autosomal recessive frontotemporal pachygyria MONDO:0012465 MONDO:0009332 False hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012466 MONDO:0020573 False Parkinson disease 13, autosomal dominant, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012468 MONDO:0003847 False rhizomelic dysplasia, scoliosis, and retinitis pigmentosa hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012470 MONDO:0023122 False prostate cancer, hereditary, 7 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012470 MONDO:0700275 False prostate cancer, hereditary, 7 prostate cancer, hereditary UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012471 MONDO:0700258 False Aicardi-Goutieres syndrome 3 RNASEH2C-related type 1 interferonopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012472 MONDO:0700259 False Aicardi-Goutieres syndrome 4 RNASEH2A-related type 1 interferonopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012473 MONDO:0003847 False right pulmonary artery, anomalous origin of, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26149,14 +26179,14 @@ MONDO:0012593 MONDO:0005151 False brain-lung-thyroid syndrome endocrine system d MONDO:0012593 MONDO:0005395 False brain-lung-thyroid syndrome movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012593 MONDO:0100545 False brain-lung-thyroid syndrome hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012595 MONDO:0020573 False leprosy, susceptibility to, 4 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012597 MONDO:0023122 False prostate cancer, hereditary, 9 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012597 MONDO:0700275 False prostate cancer, hereditary, 9 prostate cancer, hereditary UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012599 MONDO:0020573 False hypertension, essential, susceptibility to, 8 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012604 MONDO:0016764 False isolated microphthalmia 3 isolated anophthalmia-microphthalmia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012606 MONDO:0000070 False Mycobacterium tuberculosis, susceptibility to, 2 Mycobacterium tuberculosis, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012607 MONDO:0010940 False asthma-related traits, susceptibility to, 5 inherited susceptibility to asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012609 MONDO:0015140 False Alzheimer disease 12 early-onset autosomal dominant Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012611 MONDO:0100545 False polyhydramnios, megalencephaly, and symptomatic epilepsy hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012620 MONDO:0023122 False prostate cancer, hereditary, 10 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012620 MONDO:0700275 False prostate cancer, hereditary, 10 prostate cancer, hereditary UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012621 MONDO:0002254 False deafness-infertility syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012624 MONDO:0017713 False acyl-CoA dehydrogenase 9 deficiency disorder of fatty acid oxidation and ketogenesis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012626 MONDO:0100451 False Meckel syndrome, type 4 CEP290-related ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26232,18 +26262,18 @@ MONDO:0012735 MONDO:0100485 False Temple-Baraitser syndrome KCNH1 associated dis MONDO:0012739 MONDO:0002254 False microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012739 MONDO:0024458 False microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012740 MONDO:0018923 False chromosome 22q11.2 deletion syndrome, distal 22q11.2 deletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012741 MONDO:0023122 False prostate cancer, hereditary, 12 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012741 MONDO:0700275 False prostate cancer, hereditary, 12 prostate cancer, hereditary UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012747 MONDO:0003689 False glycogen storage disease due to aldolase A deficiency familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012747 MONDO:0017688 False glycogen storage disease due to aldolase A deficiency disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012747 MONDO:0020585 False glycogen storage disease due to aldolase A deficiency anemia due to erythrocyte enzyme disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012749 MONDO:0003847 False mesomelic dysplasia, camera type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012758 MONDO:0023122 False prostate cancer, hereditary, 13 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012758 MONDO:0700275 False prostate cancer, hereditary, 13 prostate cancer, hereditary UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012759 MONDO:0000111 False camptodactyly syndrome, Guadalajara type 3 camptodactyly syndrome, Guadalajara UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012760 MONDO:0020573 False epilepsy, idiopathic generalized, susceptibility to, 5 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012763 MONDO:0020573 False epilepsy, childhood absence, susceptibility to, 6 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012768 MONDO:0023122 False prostate cancer, hereditary, 11 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0012769 MONDO:0023122 False prostate cancer, hereditary, 14 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0012770 MONDO:0023122 False prostate cancer, hereditary, 15 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012768 MONDO:0700275 False prostate cancer, hereditary, 11 prostate cancer, hereditary UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012769 MONDO:0700275 False prostate cancer, hereditary, 14 prostate cancer, hereditary UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012770 MONDO:0700275 False prostate cancer, hereditary, 15 prostate cancer, hereditary UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012771 MONDO:0010940 False asthma-related traits, susceptibility to, 7 inherited susceptibility to asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012772 MONDO:0003847 False Stevenson-Carey syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012773 MONDO:0003847 False Hunter-Macdonald syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26450,7 +26480,6 @@ MONDO:0013103 MONDO:0020573 False epilepsy, idiopathic generalized, susceptibili MONDO:0013104 MONDO:0100047 False basal cell carcinoma, susceptibility to, 4 basal cell carcinoma, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013105 MONDO:0100047 False basal cell carcinoma, susceptibility to, 5 basal cell carcinoma, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013106 MONDO:0100047 False basal cell carcinoma, susceptibility to, 6 basal cell carcinoma, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013107 MONDO:0100178 False dermatitis, atopic, 7 dermatitis, atopic, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013108 MONDO:0015356 False leukemia, acute lymphocytic, susceptibility to, 1 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013108 MONDO:0020683 False leukemia, acute lymphocytic, susceptibility to, 1 acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013109 MONDO:0015356 False leukemia, acute lymphocytic, susceptibility to, 2 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26560,8 +26589,6 @@ MONDO:0013289 MONDO:0011096 False agammaglobulinemia 4, autosomal recessive auto MONDO:0013290 MONDO:0011096 False agammaglobulinemia 5, autosomal dominant autosomal agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013291 MONDO:0100314 False glycogen storage disease XV GYG1-related disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013293 MONDO:0016764 False isolated microphthalmia 6 isolated anophthalmia-microphthalmia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013294 MONDO:0100178 False dermatitis, atopic, 8 dermatitis, atopic, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013295 MONDO:0100178 False dermatitis, atopic, 9 dermatitis, atopic, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013299 MONDO:0016905 False chromosome 6q11-q14 deletion syndrome partial deletion of the long arm of chromosome 6 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013301 MONDO:0024575 False aromatase deficiency pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013302 MONDO:0019394 False nephronophthisis 11 Senior-Boichis syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26759,6 +26786,7 @@ MONDO:0013685 MONDO:0700268 False pancreatic cancer, susceptibility to, 4 BRCA1- MONDO:0013688 MONDO:0006499 False linear and whorled nevoid hypermelanosis hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013688 MONDO:0011500 False linear and whorled nevoid hypermelanosis Becker nevus syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013690 MONDO:0016377 False Pitt-Hopkins-like syndrome 2 Pitt-Hopkins-like syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013693 MONDO:0017411 False inflammatory skin and bowel disease, neonatal, 1 neonatal inflammatory skin and bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013696 MONDO:0005090 False chromosome 2p16.3 deletion syndrome schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013696 MONDO:0016884 False chromosome 2p16.3 deletion syndrome partial deletion of the short arm of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013696 MONDO:0100545 False chromosome 2p16.3 deletion syndrome hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26842,7 +26870,7 @@ MONDO:0013866 MONDO:0019260 False neuronal ceroid lipofuscinosis 11 adult neuron MONDO:0013868 MONDO:0019212 False porokeratosis 7, multiple types disseminated superficial actinic porokeratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013869 MONDO:0004736 False adenine phosphoribosyltransferase deficiency inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013870 MONDO:0016761 False TMEM165-congenital disorder of glycosylation spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013872 MONDO:0023122 False prostate cancer, hereditary, 2 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0013872 MONDO:0700275 False prostate cancer, hereditary, 2 prostate cancer, hereditary UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013873 MONDO:0800063 False IMAGe syndrome primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013875 MONDO:0100548 False 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome SERAC1-related neurological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013876 MONDO:0015356 False basal cell carcinoma, susceptibility to, 7 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26971,7 +26999,6 @@ MONDO:0014118 MONDO:0028226 False congenital neutropenia-myelofibrosis-nephromeg MONDO:0014119 MONDO:0002254 False intellectual disability-strabismus syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014119 MONDO:0024458 False intellectual disability-strabismus syndrome disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014124 MONDO:0019713 False Adams-Oliver syndrome 4 non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014128 MONDO:0015338 False TCF12-related craniosynostosis syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014130 MONDO:0008371 False Dowling-Degos disease 2 Dowling-Degos disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014131 MONDO:0006025 False hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014133 MONDO:0017385 False developmental and epileptic encephalopathy, 16 malignant migrating partial seizures of infancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27082,7 +27109,7 @@ MONDO:0014345 MONDO:0700232 False retinitis pigmentosa 69 KIZ-related retinopath MONDO:0014347 MONDO:0800063 False Rothmund-Thomson syndrome, type 3 primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014348 MONDO:0019502 False intellectual disability, autosomal recessive 42 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014350 MONDO:0800063 False Seckel syndrome 8 primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014355 MONDO:0011581 False cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis arrhythmogenic cardiomyopathy with wooly hair and keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0014355 MONDO:0011581 False cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis arrhythmogenic cardiomyopathy with wooly hair and keratoderma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014358 MONDO:0000508 False AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014358 MONDO:0100172 False AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014360 MONDO:0018614 False developmental and epileptic encephalopathy, 21 undetermined early-onset epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27149,6 +27176,7 @@ MONDO:0014477 MONDO:0018614 False developmental and epileptic encephalopathy, 26 MONDO:0014477 MONDO:0100455 False developmental and epileptic encephalopathy, 26 neonatal-onset developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014479 MONDO:0019212 False porokeratosis 8, disseminated superficial actinic type disseminated superficial actinic porokeratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014480 MONDO:0016674 False 46,XY sex reversal 9 46,XY partial gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014481 MONDO:0017411 False inflammatory skin and bowel disease, neonatal, 2 neonatal inflammatory skin and bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014482 MONDO:0002254 False intellectual disability, autosomal dominant 29 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014486 MONDO:0002254 False intellectual disability, autosomal dominant 30 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014487 MONDO:0002254 False congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -27501,7 +27529,7 @@ MONDO:0015060 MONDO:0700065 False mosaic trisomy 3 trisomy UNSUPPORTED-MISSING U MONDO:0015063 MONDO:0024500 False duodenal neuroendocrine tumor, well differentiated, low or intermediate grade duodenal neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015066 MONDO:0015067 False neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015067 MONDO:0024479 False neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor epithelial tumor of colon UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015069 MONDO:0015068 False neuroendocrine tumor of the anal canal neuroendocrine tumor of rectum, well differentiated, low or intermediate grade UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015069 MONDO:0015068 False neuroendocrine tumor of the anal canal rectal neuroendocrine tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015070 MONDO:0024623 False laryngeal neuroendocrine neoplasm otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015071 MONDO:0021366 False middle ear neuroendocrine tumor neoplasm of middle ear UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015073 MONDO:0021385 False gallbladder neuroendocrine tumor, grade 1/2 extrahepatic bile duct neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28085,6 +28113,7 @@ MONDO:0016289 MONDO:0002974 False malignant germ cell tumor of cervix uteri cerv MONDO:0016289 MONDO:0006290 False malignant germ cell tumor of cervix uteri malignant germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016290 MONDO:0020066 False Hernández-Aguirre Negrete syndrome Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016292 MONDO:0002254 False nodular neuronal heterotopia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016293 MONDO:0100545 False congenital stationary night blindness hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016294 MONDO:0002254 False Hirschsprung disease-type D brachydactyly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016294 MONDO:0021189 False Hirschsprung disease-type D brachydactyly syndrome intestinal motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016296 MONDO:0100545 False holoprosencephaly hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29018,7 +29047,6 @@ MONDO:0018245 MONDO:0015583 False 2p21 microdeletion syndrome without cystinuria MONDO:0018247 MONDO:0002254 False CADDS syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018249 MONDO:0002254 False finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018254 MONDO:0100510 False spondyloepimetaphyseal dysplasia, Isidor type spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018255 MONDO:0016763 False spondylometaphyseal dysplasia, Czarny-Ratajczak type spondylometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018257 MONDO:0100545 False familial syringomyelia hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018258 MONDO:0005073 False Angora hair nevus melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018259 MONDO:0005073 False didymosis aplasticosebacea melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29178,7 +29206,7 @@ MONDO:0018600 MONDO:0015083 False congenital abducens nerve palsy nuclear oculom MONDO:0018601 MONDO:0003847 False autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018601 MONDO:0005381 False autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018602 MONDO:0005113 False necrotizing soft tissue infection bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018603 MONDO:0012580 False interstitial lung disease due to SP-C deficiency hereditary pulmonary alveolar proteinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018603 MONDO:0012580 False SFTPC- related interstitial lung disease hereditary pulmonary alveolar proteinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018606 MONDO:0002135 False extensive peripapillary myelinated nerve fibers optic nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018606 MONDO:0005328 False extensive peripapillary myelinated nerve fibers eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018607 MONDO:0021220 False combined hamartoma of the retina and retinal pigment epithelium eye neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29452,7 +29480,7 @@ MONDO:0019010 MONDO:0019716 False congenital isolated hyperinsulinism overgrowth MONDO:0019012 MONDO:0000078 False Carpenter syndrome acrocephalopolysyndactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019012 MONDO:0015160 False Carpenter syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019013 MONDO:0006526 False non-histaminic angioedema allergic urticaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019013 MONDO:0019623 False non-histaminic angioedema hereditary angioedema UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019013 MONDO:0010481 False non-histaminic angioedema angioedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019015 MONDO:0100298 False omphalocele abdominal wall malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019016 MONDO:0024458 False maternally-inherited progressive external ophthalmoplegia disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019017 MONDO:0002254 False short fifth metacarpals-insulin resistance syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29542,6 +29570,7 @@ MONDO:0019142 MONDO:0037939 False inherited porphyria porphyria UNSUPPORTED-MISS MONDO:0019144 MONDO:0100240 False hereditary thrombophilia due to congenital protein S deficiency inherited thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019145 MONDO:0100240 False hereditary thrombophilia due to congenital protein C deficiency inherited thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019146 MONDO:0020573 False inherited susceptibility to mycobacterial diseases inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019152 MONDO:0016293 False Oguchi disease congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019154 MONDO:0003847 False androgen insensitivity syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019156 MONDO:0002254 False angioosteohypotrophic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019156 MONDO:0005497 False angioosteohypotrophic syndrome bone development disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29596,6 +29625,7 @@ MONDO:0019214 MONDO:0037792 False inborn carbohydrate metabolic disorder carbohy MONDO:0019216 MONDO:0004736 False inborn disorder of amino acid transport inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019218 MONDO:0019189 False inborn disorder of bile acid synthesis inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019218 MONDO:0045022 False inborn disorder of bile acid synthesis disorder of organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019220 MONDO:0020696 False inborn disorder of cobalamin metabolism and transport vitamin B12 deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019222 MONDO:0045022 False inborn disorder of methionine cycle and sulfur amino acid metabolism disorder of organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019222 MONDO:0056803 False inborn disorder of methionine cycle and sulfur amino acid metabolism sulfur metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019225 MONDO:0002908 False disorder of gluconeogenesis glucose metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29622,7 +29652,6 @@ MONDO:0019256 MONDO:0045012 False sterol metabolism disorder steroid metabolism MONDO:0019260 MONDO:0020143 False adult neuronal ceroid lipofuscinosis cerebral lipidosis with dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019261 MONDO:0020143 False infantile neuronal ceroid lipofuscinosis cerebral lipidosis with dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019262 MONDO:0020143 False juvenile neuronal ceroid lipofuscinosis cerebral lipidosis with dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019263 MONDO:0001676 False autosomal erythropoietic protoporphyria erythropoietic protoporphyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019268 MONDO:0005093 False epidermal disease skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019272 MONDO:0006590 False hereditary palmoplantar keratoderma palmoplantar keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019272 MONDO:0100118 False hereditary palmoplantar keratoderma hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29739,6 +29768,7 @@ MONDO:0019436 MONDO:0011849 False psoriasis-related juvenile idiopathic arthriti MONDO:0019438 MONDO:0005071 False AL amyloidosis nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019438 MONDO:0006504 False AL amyloidosis acquired metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019439 MONDO:0005071 False AA amyloidosis nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0019441 MONDO:0971004 False ATTRV122I amyloidosis amyloidosis, hereditary systemic 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019443 MONDO:0100547 False dextro-looped transposition of the great arteries cardiogenetic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019444 MONDO:0005745 False trichinellosis Enoplea infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019445 MONDO:0021539 False trichofolliculoma hamartoma of skin appendage UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29818,13 +29848,7 @@ MONDO:0019572 MONDO:0100237 False autosomal recessive cutis laxa type 1 inherite MONDO:0019573 MONDO:0006025 False autosomal recessive cutis laxa type 2 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019573 MONDO:0015327 False autosomal recessive cutis laxa type 2 developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019573 MONDO:0100237 False autosomal recessive cutis laxa type 2 inherited cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019586 MONDO:0016297 False X-linked nonsyndromic hearing loss prelingual non-syndromic genetic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019586 MONDO:0016298 False X-linked nonsyndromic hearing loss postlingual non-syndromic genetic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019586 MONDO:0020768 False X-linked nonsyndromic hearing loss X-linked deafness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019587 MONDO:0016297 False autosomal dominant nonsyndromic hearing loss prelingual non-syndromic genetic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019587 MONDO:0016298 False autosomal dominant nonsyndromic hearing loss postlingual non-syndromic genetic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019588 MONDO:0016297 False hearing loss, autosomal recessive prelingual non-syndromic genetic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019588 MONDO:0016298 False hearing loss, autosomal recessive postlingual non-syndromic genetic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019591 MONDO:0013099 False panhypopituitarism combined pituitary hormone deficiencies, genetic form UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019600 MONDO:0021190 False xeroderma pigmentosum DNA repair disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019603 MONDO:0015159 False osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30266,7 +30290,6 @@ MONDO:0020648 MONDO:0021674 False rubella encephalitis post-viral disorder UNSUP MONDO:0020649 MONDO:0004433 False warty carcinoma of the penis papillary carcinoma of the penis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020650 MONDO:0005040 False germ cell tumor of the vulva germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020650 MONDO:0021049 False germ cell tumor of the vulva vulvar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020655 MONDO:0005306 False juvenile ankylosing spondylitis ankylosing spondylitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020657 MONDO:0017341 False human papillomavirus-related squamous cell carcinoma virus associated tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020658 MONDO:0004010 False infiltrating ureter transitional cell carcinoma infiltrating renal pelvis/ureter urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020659 MONDO:0020654 False upper tract urothelial carcinoma renal pelvis/ureter urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31053,7 +31076,7 @@ MONDO:0023098 MONDO:0002254 False extrasystoles short stature hyperpigmentation MONDO:0023106 MONDO:0005516 False Fairbank disease osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023111 MONDO:0002254 False familial capillaro-venous leptomeningeal angiomatosis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023119 MONDO:0009692 False familial myelofibrosis primary myelofibrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023122 MONDO:0003847 False familial prostate carcinoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023122 MONDO:0700275 False familial prostate carcinoma prostate cancer, hereditary UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023133 MONDO:0002254 False Faye-Petersen-Ward-Carey syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023134 MONDO:0024250 False febrile ulceronecrotic Mucha-Habermann disease acute lichenoid pityriasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023138 MONDO:0002254 False Feingold trainer syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31456,6 +31479,7 @@ MONDO:0024953 MONDO:0005583 False lameness, non-human animal non-human animal di MONDO:0024954 MONDO:0005988 False larva migrans, visceral toxocariasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024954 MONDO:0018500 False larva migrans, visceral cutaneous larva migrans UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024965 MONDO:1010195 False muscular dystrophy, non-human animal myopathy, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024965 MONDO:1011321 False muscular dystrophy, non-human animal hereditary disease, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024965 MONDO:1011336 False muscular dystrophy, non-human animal nervous system disorder, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024969 MONDO:0700049 False parasitic disease, non-human animal infectious disease, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024971 MONDO:0024913 False parturient paresis cattle disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31897,7 +31921,7 @@ MONDO:0032878 MONDO:0100500 False neurodevelopmental disorder with behavioral ab MONDO:0032882 MONDO:0003847 False Heyn-Sproul-Jackson syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032883 MONDO:0003847 False intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032884 MONDO:0003847 False ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032885 MONDO:0003847 False spondyloepimetaphyseal dysplasia, Isidor-Toutain type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0032885 MONDO:0100510 False spondyloepimetaphyseal dysplasia, Isidor-Toutain type spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032886 MONDO:0003847 False Liang-Wang syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032887 MONDO:0100500 False neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032888 MONDO:0100500 False neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32085,7 +32109,6 @@ MONDO:0035511 MONDO:0029000 False ricin poisoning poisoning UNSUPPORTED-MISSING MONDO:0035529 MONDO:0003847 False infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035529 MONDO:0005087 False infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035534 MONDO:0003847 False DONSON-related microcephaly-short stature-limb abnormalities spectrum hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035547 MONDO:0020573 False predisposition to severe viral infection due to IRF7 deficiency inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035548 MONDO:0020573 False autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035551 MONDO:0011057 False cathepsin a-related arteriopathy-strokes-leukoencephalopathy cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035551 MONDO:0100545 False cathepsin a-related arteriopathy-strokes-leukoencephalopathy hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32959,6 +32982,8 @@ MONDO:0100083 MONDO:0011071 False hereditary thrombocytopenia and hematological MONDO:0100085 MONDO:0024311 False cancer of long bone of upper limb cancer affecting bone of limb skeleton UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100086 MONDO:0700096 False perinatal disease human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100087 MONDO:0004975 False familial Alzheimer disease Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100087 MONDO:0015547 False familial Alzheimer disease hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100087 MONDO:0024237 False familial Alzheimer disease inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100089 MONDO:0003847 False GATA1-Related X-Linked Cytopenia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100089 MONDO:0005570 False GATA1-Related X-Linked Cytopenia hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100091 MONDO:0003847 False inherited pseudoxanthoma elasticum hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32997,6 +33022,7 @@ MONDO:0100172 MONDO:0001071 False intellectual disability, autosomal dominant in MONDO:0100172 MONDO:0100545 False intellectual disability, autosomal dominant hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100173 MONDO:0015356 False leukemia, acute myeloid, susceptibility to hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100177 MONDO:0020573 False allergic rhinitis, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100178 MONDO:0020573 False dermatitis, atopic, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100180 MONDO:0020573 False diabetes mellitus, ketosis-prone inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100182 MONDO:0020573 False schizophrenia, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100183 MONDO:0020573 False radioulnar synostosis, nonsyndromic, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -33134,6 +33160,7 @@ MONDO:0100543 MONDO:0100542 False clonal hematopoiesis of indeterminate potentia MONDO:0100544 MONDO:0100542 False age-related clonal hematopoiesis clonal hematopoiesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100550 MONDO:0004746 False orbital myositis myopathy of extraocular muscle UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100550 MONDO:0021167 False orbital myositis myositis disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100552 MONDO:0971004 False ATTRV30M amyloidosis amyloidosis, hereditary systemic 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100553 MONDO:0005338 False OPTN-related open angle glaucoma open-angle glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100553 MONDO:0018174 False OPTN-related open angle glaucoma hereditary glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100554 MONDO:0021107 False hereditary narcolepsy narcolepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -33162,6 +33189,7 @@ MONDO:0700001 MONDO:0005275 False shrinking lung syndrome lung disorder UNSUPPOR MONDO:0700005 MONDO:0700004 False idiopathic idiopathic vs non-idiopathic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700007 MONDO:0700096 False idiopathic disease human disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700015 MONDO:0020049 False chromosome 8 disorder autosomal anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700030 MONDO:0700126 False complete trisomy 21 trisomy 21 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700032 MONDO:0018071 False complete trisomy 18 trisomy 18 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700035 MONDO:0020639 False monosomy chromosome 8 monosomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700035 MONDO:0700015 False monosomy chromosome 8 chromosome 8 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -33333,6 +33361,8 @@ MONDO:0700245 MONDO:0958184 False epidermolytic hyperkeratosis 2B, autosomal rec MONDO:0700247 MONDO:0016073 False RAB18 deficiency syndromic microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700248 MONDO:0020702 False epidermolytic hyperkeratosis 2A, autosomal dominant autosomal dominant epidermolytic ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700248 MONDO:0958184 False epidermolytic hyperkeratosis 2A, autosomal dominant epidermolytic hyperkeratosis 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700275 MONDO:0003847 False prostate cancer, hereditary hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700275 MONDO:0008315 False prostate cancer, hereditary prostate cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800001 MONDO:0020573 False delayed sleep phase syndrome, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800026 MONDO:0002254 False central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0800026 MONDO:0002320 False central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -33340,6 +33370,7 @@ MONDO:0800026 MONDO:0021635 False central hypoventilation syndrome, congenital, MONDO:0800026 MONDO:0100545 False central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800028 MONDO:0005395 False dyskinesia with orofacial involvement, autosomal dominant movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800028 MONDO:0100545 False dyskinesia with orofacial involvement, autosomal dominant hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800029 MONDO:0002771 False interstitial lung disease 2 pulmonary fibrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0800029 MONDO:0100137 False interstitial lung disease 2 telomere syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800030 MONDO:0002254 False gastrointestinal defects and immunodeficiency syndrome 1 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800031 MONDO:0003847 False central hypoventilation syndrome, congenital hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -33652,7 +33683,7 @@ MONDO:0859253 MONDO:0003847 False osteoporosis, childhood- or juvenile-onset, wi MONDO:0859254 MONDO:0003847 False hepatorenocardiac degenerative fibrosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859255 MONDO:0002316 False peripheral motor neuropathy, childhood-onset, biotin-responsive motor peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859256 MONDO:0700092 False neurodevelopmental disorder with language delay and seizures neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859257 MONDO:0003847 False intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859257 MONDO:0971063 False intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism autosomal dominant dopa-responsive dystonia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859258 MONDO:0700092 False neurodevelopmental disorder with dystonia and seizures neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859260 MONDO:0700092 False Dworschak-Punetha neurodevelopmental syndrome neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859261 MONDO:0007743 False attention deficit-hyperactivity disorder 8 attention deficit-hyperactivity disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -33660,7 +33691,6 @@ MONDO:0859262 MONDO:0003847 False ACCES syndrome hereditary disease UNSUPPORTED- MONDO:0859263 MONDO:0003847 False developmental delay, impaired speech, and behavioral abnormalities, with or without seizures hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859265 MONDO:0700092 False neurodevelopmental disorder with epilepsy and brain atrophy neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859266 MONDO:0700092 False neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859267 MONDO:0015356 False tumor predisposition syndrome 2 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859271 MONDO:0024321 False glycosylphosphatidylinositol biosynthesis defect 25 disorder of GPI anchor biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859272 MONDO:0700092 False neurodevelopmental disorder with speech delay and variable ocular anomalies neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859273 MONDO:0005154 False liver disease, severe congenital liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -33808,12 +33838,12 @@ MONDO:0957791 MONDO:0100500 False neurodevelopmental disorder with motor regress MONDO:0957795 MONDO:0003847 False arrhythmogenic cardiomyopathy with variable ectodermal abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957807 MONDO:0018037 False hyper-IgE syndrome 6, autosomal dominant, with recurrent infections hyper-IgE syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0957811 MONDO:0018965 False Alport syndrome 3b, autosomal recessive Alport syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0957813 MONDO:0019064 False spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0957815 MONDO:0003847 False developmental delay with or without epilepsy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957832 MONDO:0003847 False craniometadiaphyseal osteosclerosis with hip dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957912 MONDO:0001824 False organophosphate-induced delayed polyneuropathy polyneuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0957919 MONDO:0002254 False Lui-Jee-Baron syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957919 MONDO:0003847 False Lui-Jee-Baron syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0957955 MONDO:0971066 False immunodeficiency 114, folate-responsive megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957960 MONDO:0002254 False Long-Olsen-Distelmaier syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957960 MONDO:0003847 False Long-Olsen-Distelmaier syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957985 MONDO:0003847 False neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -33893,17 +33923,51 @@ MONDO:0970944 MONDO:0002254 False Leigh syndrome, mitochondrial syndromic diseas MONDO:0970951 MONDO:0700092 False El Hayek-Chahrour neurodevelopmental disorder neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0970998 MONDO:0002254 False auroneurodental syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0971043 MONDO:0100500 False neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0971056 MONDO:0002532 False ocular surface squamous neoplasia squamous cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0971056 MONDO:0021220 False ocular surface squamous neoplasia eye neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0971064 MONDO:0002254 False orofacial clefting-cardiac anomalies-facial dysmorphism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0971080 MONDO:0002254 False Grisel syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0971093 MONDO:0016761 False MGP-related spondyloepiphyseal dysplasia spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0971103 MONDO:0005093 False Nicolau syndrome skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0971105 MONDO:0005240 False neonatal renal venous thrombosis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0971111 MONDO:0044925 False intraoral basal cell carcinoma oral cavity carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0971115 MONDO:0024296 False benign vascular tumor vascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0971116 MONDO:0024296 False borderline vascular tumor vascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0971119 MONDO:0005381 False proteoglycan-related bone disorder bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0971123 MONDO:0003343 False isolated retinal racemose hemangioma retinal hemangioblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0971124 MONDO:0002311 False perifoveal exudative vascular anomalous complex retinal vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0971125 MONDO:0005283 False torpedo maculopathy retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0971126 MONDO:0005328 False isolated angioid streaks eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0971127 MONDO:0020947 False diffuse unilateral subacute neuroretinitis parasitic eye infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0971128 MONDO:0005328 False multiple evanescent white dot syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0971128 MONDO:0021166 False multiple evanescent white dot syndrome inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0971129 MONDO:0005328 False stellate multiform amelanotic choroidopathy eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0971130 MONDO:0021487 False choroidal osteoma benign neoplasm of choroid UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0971131 MONDO:0021073 False bilateral diffuse uveal melanocytic proliferation disease paraneoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0971138 MONDO:0015327 False progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0971140 MONDO:0005065 False well-differentiated papillary mesothelial tumour of the pleura mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0971145 MONDO:0006362 False peritoneal mesothelioma in situ peritoneal mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0971170 MONDO:0015356 False prostate cancer, hereditary, X-linked 3 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0971172 MONDO:0100500 False neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0971173 MONDO:0003847 False autoinflammation with arthritis and vasculitis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0971175 MONDO:0016333 False cardiomyopathy, dilated, 2K familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0971176 MONDO:0009299 False ovarian dysgenesis 11 46 XX gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0971177 MONDO:0021094 False immunodeficiency 123 with HPV-related verrucosis immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0971178 MONDO:0004691 False polycystic kidney disease 8 autosomal dominant polycystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0971179 MONDO:0002254 False arterial tortuosity-bone fragility syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:1010000 MONDO:0005550 False pythiosis infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:1030001 MONDO:0020573 False epilepsy, juvenile absence, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:1030002 MONDO:0022800 False dysplasia of the proximal femoral epiphyses type 2 collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:1040002 MONDO:0019716 False PIK3CA-related overgrowth spectrum overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:1040016 MONDO:0011057 False cerebral artery stenosis cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:1040017 MONDO:0005020 False intestinal fistula intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:1040024 MONDO:0020800 False myelin oligodendrocyte glycoprotein antibody-associated disease demyelinating disease of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:1040024 MONDO:0021166 False myelin oligodendrocyte glycoprotein antibody-associated disease inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:1040026 MONDO:0001657 False metastatic malignant neoplasm in the brain brain cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:1040026 MONDO:0024880 False metastatic malignant neoplasm in the brain metastatic malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:1040032 MONDO:0003847 False EN1-related dorsoventral syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:1050000 MONDO:0006552 False sycosis barbae folliculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:1050000 MONDO:0021201 False sycosis barbae skin infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:1050000 MONDO:0024295 False sycosis barbae skin disease caused by bacterial infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:8000000 MONDO:0037847 False infectious discitis vertebral joint disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:8000000 MONDO:0042485 False infectious discitis infective arthritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:8000005 MONDO:0002041 False fungal discitis fungal infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING diff --git a/src/ontology/slurp/doid.tsv b/src/ontology/slurp/doid.tsv index e97ba1fe2..0335ad436 100644 --- a/src/ontology/slurp/doid.tsv +++ b/src/ontology/slurp/doid.tsv @@ -9,41 +9,47 @@ MONDO:0958360 cholesterol-ester transfer protein deficiency DOID:0111368 MONDO:e MONDO:0968993 aleutian mink disease DOID:2934 MONDO:equivalentTo aleutian mink disease MONDO:0005108 MONDO:0968994 borna disease DOID:5154 MONDO:equivalentTo borna disease MONDO:0005108|MONDO:0002602 MONDO:0970991 papilledema DOID:146 MONDO:equivalentTo papilledema MONDO:0002135 -MONDO:0970996 interstitial lung disease 2 DOID:0060971 MONDO:equivalentTo interstitial lung disease 2 MONDO:0015925|MONDO:0000426 -MONDO:0970997 renal hypomagnesemia 7, with or without dilated cardiomyopathy DOID:0060972 MONDO:equivalentTo renal hypomagnesemia 7, with or without dilated cardiomyopathy MONDO:0018100|MONDO:0000426 -MONDO:0971003 whim syndrome 2 DOID:0060973 MONDO:equivalentTo WHIM syndrome 2 MONDO:0003778|MONDO:0006025 -MONDO:0971017 autosomal recessive robinow syndrome 2 DOID:0060974 MONDO:equivalentTo autosomal recessive Robinow syndrome 2 MONDO:0019978|MONDO:0006025 -MONDO:0971018 polycystic liver disease 2 DOID:0060975 MONDO:equivalentTo polycystic liver disease 2 MONDO:0000447 -MONDO:0971019 polycystic liver disease 3 with or without kidney cysts DOID:0060976 MONDO:equivalentTo polycystic liver disease 3 with or without kidney cysts MONDO:0000447 -MONDO:0971020 polycystic liver disease 4 with or without kidney cysts DOID:0060977 MONDO:equivalentTo polycystic liver disease 4 with or without kidney cysts MONDO:0000447 -MONDO:0971021 primary pigmented nodular adrenocortical disease 1 DOID:0070546 MONDO:equivalentTo primary pigmented nodular adrenocortical disease 1 MONDO:0000426|MONDO:0015999 -MONDO:0971022 primary pigmented nodular adrenocortical disease 2 DOID:0070547 MONDO:equivalentTo primary pigmented nodular adrenocortical disease 2 MONDO:0000426|MONDO:0015999 -MONDO:0971023 primary pigmented nodular adrenocortical disease 3 DOID:0070548 MONDO:equivalentTo primary pigmented nodular adrenocortical disease 3 MONDO:0015999 -MONDO:0971024 primary pigmented nodular adrenocortical disease 4 DOID:0070549 MONDO:equivalentTo primary pigmented nodular adrenocortical disease 4 MONDO:0015999|MONDO:0000426 -MONDO:0971025 krt1-related nonepidermolytic palmoplantar keratoderma DOID:0070550 MONDO:equivalentTo KRT1-related nonepidermolytic palmoplantar keratoderma MONDO:0010962 -MONDO:0971026 epidermolytic palmoplantar keratoderma 2 DOID:0070551 MONDO:equivalentTo epidermolytic palmoplantar keratoderma 2 MONDO:0007758|MONDO:0000426 -MONDO:0971027 epidermolytic palmoplantar keratoderma 1 DOID:0070552 MONDO:equivalentTo epidermolytic palmoplantar keratoderma 1 MONDO:0007758|MONDO:0000426 -MONDO:0971028 focal palmoplantar and gingival keratosis DOID:0070553 MONDO:equivalentTo focal palmoplantar and gingival keratosis MONDO:0006590 -MONDO:0971029 palmoplantar keratoderma and woolly hair DOID:0070554 MONDO:equivalentTo palmoplantar keratoderma and woolly hair MONDO:0010962|MONDO:0006025 -MONDO:0971030 nagashima-type palmoplantar keratosis DOID:0070555 MONDO:equivalentTo Nagashima-type palmoplantar keratosis MONDO:0010962|MONDO:0006025 MONDO:0971031 auto-brewery syndrome DOID:0081455 MONDO:equivalentTo auto-brewery syndrome An acquired metabolic disease that is characterized by the endogenous production of ethanol produced through endogenous fermentation by fungi or bacteria in the gastrointestinal system, oral cavity, or urinary system and typically presents with the signs of alcohol intoxication. MONDO:0006504 MONDO:0971032 bladder fermentation syndrome DOID:0081456 MONDO:equivalentTo bladder fermentation syndrome An acquired metabolic disease that is characterized by ethanol fermentation in the bladder and the absence of alcoholic intoxication. MONDO:0006504 MONDO:0971033 intrathyroid thymic carcinoma DOID:0081457 MONDO:equivalentTo intrathyroid thymic carcinoma A thyroid gland carcinoma composed of groups of carcinoma cells with thymic epithelial differentiation. MONDO:0015075 MONDO:0971034 thyroid gland cribriform morular carcinoma DOID:0081458 MONDO:equivalentTo thyroid gland cribriform morular carcinoma A thyroid gland carcinoma that is characterized by the presence of cribriform, trabecular, follicular, papillary, and solid growth patterns and squamoid morulae formation. MONDO:0015075 MONDO:0971035 thyroid gland mixed medullary and follicular cell-derived carcinoma DOID:0081459 MONDO:equivalentTo thyroid gland mixed medullary and follicular cell-derived carcinoma A thyroid gland carcinoma containing a medullary carcinoma component that is immunohistochemically positive for calcitonin, and follicular cell-derived carcinoma component that is immunohistochemically positive for thyroglobulin. MONDO:0015075 MONDO:0971036 thyroid gland mucinous carcinoma DOID:0081460 MONDO:equivalentTo thyroid gland mucinous carcinoma A thyroid gland carcinoma that is characterized by the presence of clusters of malignant epithelial cells associated with abundant extracellular mucin deposition. MONDO:0015075 -MONDO:0971037 thyroid gland spindle epithelial tumor with thymus-like elements DOID:0081461 MONDO:equivalentTo thyroid gland spindle epithelial tumor with thymus-like elements A thyroid gland carcinoma that is characterized by a lobulated architectural pattern and the presence of a biphasic cellular population composed of spindle epithelial cells and glandular cells. MONDO:0015075 -MONDO:0971156 fanconi anemia complementation group w DOID:0060978 MONDO:equivalentTo Fanconi anemia complementation group W MONDO:0019391|MONDO:0006025 -MONDO:0971157 fanconi anemia complementation group s DOID:0060979 MONDO:equivalentTo Fanconi anemia complementation group S MONDO:0019391|MONDO:0006025 -MONDO:0971158 polycystic liver disease 1 DOID:0060980 MONDO:equivalentTo polycystic liver disease 1 MONDO:0000447 -MONDO:0971159 mosaic variegated aneuploidy syndrome 4 DOID:0060981 MONDO:equivalentTo mosaic variegated aneuploidy syndrome 4 MONDO:0000141|MONDO:0006025 -MONDO:0971160 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition DOID:0060982 MONDO:equivalentTo mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition MONDO:0000141 -MONDO:0971161 sitosterolemia 2 DOID:0060983 MONDO:equivalentTo sitosterolemia 2 MONDO:0005020|MONDO:0006025 -MONDO:0971162 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 DOID:0070556 MONDO:equivalentTo cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 MONDO:0009133 -MONDO:0971163 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 DOID:0070557 MONDO:equivalentTo cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 MONDO:0009133 -MONDO:0971164 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 DOID:0070558 MONDO:equivalentTo cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 MONDO:0009133 -MONDO:0971165 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 DOID:0070559 MONDO:equivalentTo cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 MONDO:0009133 -MONDO:0971166 glucose transporter type 1 deficiency syndrome DOID:0070560 MONDO:equivalentTo glucose transporter type 1 deficiency syndrome MONDO:0000429|MONDO:0002908 -MONDO:0971167 fanconi-bickel syndrome DOID:0070562 MONDO:equivalentTo Fanconi-Bickel syndrome MONDO:0006025|MONDO:0002908 -MONDO:0971168 glucose-galactose malabsorption DOID:0070563 MONDO:equivalentTo glucose-galactose malabsorption MONDO:0002908|MONDO:0006025 MONDO:0971183 autosomal recessive pseudohypoaldosteronism type 1 DOID:0060854 MONDO:equivalentTo autosomal recessive pseudohypoaldosteronism type 1 MONDO:0018638|MONDO:0006025 +MONDO:0975707 idiopathic pulmonary fibrosis DOID:0050156 MONDO:equivalentTo idiopathic pulmonary fibrosis A pulmonary fibrosis that is characterized by scarring of the lung characterized by stiffness in the lungs and makes it difficult to breathe. MONDO:0002771|MONDO:0000426 +MONDO:0975708 dialysis disequilibrium syndrome DOID:0070564 MONDO:equivalentTo dialysis disequilibrium syndrome MONDO:0002254 +MONDO:0975709 spermatogenic failure 66 DOID:0070565 MONDO:equivalentTo spermatogenic failure 66 MONDO:0015746|MONDO:0006025 +MONDO:0975710 spermatogenic failure 67 DOID:0070566 MONDO:equivalentTo spermatogenic failure 67 MONDO:0015746|MONDO:0006025 +MONDO:0975711 spermatogenic failure 68 DOID:0070567 MONDO:equivalentTo spermatogenic failure 68 MONDO:0004983|MONDO:0006025 +MONDO:0975712 spermatogenic failure 69 DOID:0070568 MONDO:equivalentTo spermatogenic failure 69 MONDO:0004983|MONDO:0006025 +MONDO:0975713 spermatogenic failure 70 DOID:0070569 MONDO:equivalentTo spermatogenic failure 70 MONDO:0004983|MONDO:0006025 +MONDO:0975714 spermatogenic failure 71 DOID:0070570 MONDO:equivalentTo spermatogenic failure 71 MONDO:0004983|MONDO:0006025 +MONDO:0975715 spermatogenic failure 72 DOID:0070571 MONDO:equivalentTo spermatogenic failure 72 MONDO:0004983|MONDO:0006025 +MONDO:0975716 spermatogenic failure 73 DOID:0070572 MONDO:equivalentTo spermatogenic failure 73 MONDO:0004983|MONDO:0006025 +MONDO:0975717 spermatogenic failure 74 DOID:0070573 MONDO:equivalentTo spermatogenic failure 74 MONDO:0004983|MONDO:0006025 +MONDO:0975718 spermatogenic failure 75 DOID:0070574 MONDO:equivalentTo spermatogenic failure 75 MONDO:0004983|MONDO:0006025 +MONDO:0975719 spermatogenic failure 76 DOID:0070575 MONDO:equivalentTo spermatogenic failure 76 MONDO:0004983|MONDO:0006025 +MONDO:0975720 spermatogenic failure 77 DOID:0070576 MONDO:equivalentTo spermatogenic failure 77 MONDO:0004983|MONDO:0006025 +MONDO:0975721 spermatogenic failure 78 DOID:0070577 MONDO:equivalentTo spermatogenic failure 78 MONDO:0004983|MONDO:0006025 +MONDO:0975722 spermatogenic failure 79 DOID:0070578 MONDO:equivalentTo spermatogenic failure 79 MONDO:0004983|MONDO:0006025 +MONDO:0975723 spermatogenic failure 80 DOID:0070579 MONDO:equivalentTo spermatogenic failure 80 MONDO:0004983|MONDO:0006025 +MONDO:0975724 spermatogenic failure 81 DOID:0070580 MONDO:equivalentTo spermatogenic failure 81 MONDO:0004983|MONDO:0006025 +MONDO:0975725 spermatogenic failure 82 DOID:0070581 MONDO:equivalentTo spermatogenic failure 82 MONDO:0004983|MONDO:0006025 +MONDO:0975726 spermatogenic failure 83 DOID:0070582 MONDO:equivalentTo spermatogenic failure 83 MONDO:0004983|MONDO:0006025 +MONDO:0975727 spermatogenic failure 84 DOID:0070583 MONDO:equivalentTo spermatogenic failure 84 MONDO:0004983|MONDO:0006025 +MONDO:0975728 spermatogenic failure 85 DOID:0070584 MONDO:equivalentTo spermatogenic failure 85 MONDO:0015746|MONDO:0006025 +MONDO:0975729 spermatogenic failure 86 DOID:0070585 MONDO:equivalentTo spermatogenic failure 86 MONDO:0004983|MONDO:0006025 +MONDO:0975730 spermatogenic failure 87 DOID:0070586 MONDO:equivalentTo spermatogenic failure 87 MONDO:0004983|MONDO:0006025 +MONDO:0975731 spermatogenic failure 88 DOID:0070587 MONDO:equivalentTo spermatogenic failure 88 MONDO:0004983|MONDO:0006025 +MONDO:0975732 spermatogenic failure 89 DOID:0070588 MONDO:equivalentTo spermatogenic failure 89 MONDO:0004983|MONDO:0006025 +MONDO:0975733 spermatogenic failure 90 DOID:0070589 MONDO:equivalentTo spermatogenic failure 90 MONDO:0004983|MONDO:0006025 +MONDO:0975734 spermatogenic failure 91 DOID:0070590 MONDO:equivalentTo spermatogenic failure 91 MONDO:0004983|MONDO:0006025 +MONDO:0975735 spermatogenic failure 92 DOID:0070591 MONDO:equivalentTo spermatogenic failure 92 MONDO:0004983|MONDO:0006025 +MONDO:0975736 spermatogenic failure 93 DOID:0070592 MONDO:equivalentTo spermatogenic failure 93 MONDO:0004983|MONDO:0006025 +MONDO:0975737 spermatogenic failure 94 DOID:0070593 MONDO:equivalentTo spermatogenic failure 94 MONDO:0004983|MONDO:0006025 +MONDO:0975738 spermatogenic failure 95 DOID:0070594 MONDO:equivalentTo spermatogenic failure 95 MONDO:0004983|MONDO:0006025 +MONDO:0975739 x-linked spermatogenic failure 4 DOID:0070595 MONDO:equivalentTo X-linked spermatogenic failure 4 MONDO:0004983|MONDO:0000425 +MONDO:0975740 x-linked spermatogenic failure 5 DOID:0070596 MONDO:equivalentTo X-linked spermatogenic failure 5 MONDO:0004983|MONDO:0000425 +MONDO:0975741 x-linked spermatogenic failure 6 DOID:0070597 MONDO:equivalentTo X-linked spermatogenic failure 6 MONDO:0004983|MONDO:0000425 +MONDO:0975742 x-linked spermatogenic failure 7 DOID:0070598 MONDO:equivalentTo X-linked spermatogenic failure 7 MONDO:0004983|MONDO:0020605 +MONDO:0975743 x-linked spermatogenic failure 8 DOID:0070599 MONDO:equivalentTo X-linked spermatogenic failure 8 MONDO:0004983|MONDO:0000425 diff --git a/src/ontology/slurp/omim.tsv b/src/ontology/slurp/omim.tsv index 46ddafa8e..26798f925 100644 --- a/src/ontology/slurp/omim.tsv +++ b/src/ontology/slurp/omim.tsv @@ -1,3 +1,8 @@ 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:0975705 otofacial neurodevelopmental syndrome OMIM:620910 MONDO:equivalentTo otofacial neurodevelopmental syndrome +MONDO:0975745 neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1 OMIM:620888 MONDO:equivalentTo neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1 +MONDO:0975746 spastic paraplegia 92, autosomal recessive OMIM:620911 MONDO:equivalentTo spastic paraplegia 92, autosomal recessive MONDO:0019064 +MONDO:0975747 spermatogenic failure 95 OMIM:620917 MONDO:equivalentTo spermatogenic failure 95 MONDO:0004983 +MONDO:0975748 parkinson disease 26, autosomal dominant, susceptibility to OMIM:620923 MONDO:equivalentTo parkinson disease 26, autosomal dominant, susceptibility to MONDO:0005180 +MONDO:0975749 immunodeficiency 125 OMIM:620926 MONDO:equivalentTo immunodeficiency 125 MONDO:0021094 diff --git a/src/ontology/slurp/ordo.tsv b/src/ontology/slurp/ordo.tsv index 2f660f6f3..2da5208a7 100644 --- a/src/ontology/slurp/ordo.tsv +++ b/src/ontology/slurp/ordo.tsv @@ -1,86 +1,24 @@ mondo_id mondo_label xref xref_source original_label definition parents subset ID LABEL A oboInOwl:hasDbXref >A oboInOwl:source SPLIT=| A IAO:0000115 SC % -MONDO:0971047 prc-2 complex-related overgrowth spectrum Orphanet:659387 MONDO:equivalentTo PRC-2 complex-related overgrowth spectrum MONDO:8000033|MONDO:0800091|MONDO:0015159|MONDO:0035863|MONDO:0019716 group of disorders -MONDO:0971048 facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome Orphanet:659609 MONDO:equivalentTo Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome MONDO:8000034|MONDO:0000001|MONDO:0035863|MONDO:0015159|MONDO:0017120 disorder -MONDO:0971049 single isolated optic neuritis Orphanet:659626 MONDO:equivalentTo Single isolated optic neuritis MONDO:0044688|MONDO:8000031 subtype of a disorder -MONDO:0971050 relapsing isolated optic neuritis Orphanet:659634 MONDO:equivalentTo Relapsing isolated optic neuritis MONDO:8000031|MONDO:0044688 subtype of a disorder -MONDO:0971052 erythropoietic porphyria Orphanet:659681 MONDO:equivalentTo Erythropoietic porphyria MONDO:0019142|MONDO:8000033 group of disorders -MONDO:0971054 intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome Orphanet:659702 MONDO:equivalentTo Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome MONDO:0015329|MONDO:0015159|MONDO:8000034|MONDO:0035863|MONDO:0026187|MONDO:8000032 disorder MONDO:0971055 rare yersiniosis Orphanet:659712 MONDO:equivalentTo Rare yersiniosis MONDO:8000033|MONDO:0015575 group of disorders -MONDO:0971056 ocular surface squamous neoplasia Orphanet:659744 MONDO:equivalentTo Ocular surface squamous neoplasia MONDO:0000001|MONDO:8000034|MONDO:0015121 disorder -MONDO:0971058 verruga peruana Orphanet:659759 MONDO:equivalentTo Verruga peruana A rare bacterial infectious disease characterized by development of endothelial cell-derived, blood-filled tumors on the surface of the skin during the chronic phase of infection with Bartonella bacilliformis. The lesions can persist for months to years and may cause pain and scarring due to ulceration. They are classified as miliary (multiple red papules of <3 mm in diameter), mular (blood-filled nodules), and diffuse (groups of subdermal nodules >5 mm in diameter). Eruptions may be accompanied by fever and malaise, lymphadenopathy, acute bone and joint pains, and headache. Fatality rates during this phase are low. MONDO:0018984|MONDO:8000031 subtype of a disorder -MONDO:0971060 multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome Orphanet:659904 MONDO:equivalentTo Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome MONDO:8000032|MONDO:8000034|MONDO:0035863|MONDO:0015159 disorder -MONDO:0971062 sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome Orphanet:659975 MONDO:equivalentTo Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome MONDO:0035863|MONDO:0015159|MONDO:8000032|MONDO:0019589|MONDO:8000034 disorder -MONDO:0971063 developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome Orphanet:660017 MONDO:equivalentTo Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome MONDO:0035862|MONDO:8000034|MONDO:0000001|MONDO:0018265 disorder -MONDO:0971064 orofacial clefting-cardiac anomalies-facial dysmorphism syndrome Orphanet:660021 MONDO:equivalentTo Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome MONDO:0035863|MONDO:8000032|MONDO:0015335|MONDO:0015159|MONDO:8000034 disorder -MONDO:0971066 megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency Orphanet:661412 MONDO:equivalentTo Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency MONDO:0018035|MONDO:8000034|MONDO:0020111|MONDO:0000001|MONDO:0017313 disorder -MONDO:0971067 mbd4-related tumor predisposition syndrome Orphanet:661526 MONDO:equivalentTo MBD4-related tumor predisposition syndrome MONDO:8000034|MONDO:0015356|MONDO:0000001 disorder -MONDO:0971068 phelan-mcdermid syndrome due to 22q13.3 deletion Orphanet:662169 MONDO:equivalentTo Phelan-McDermid syndrome due to 22q13.3 deletion MONDO:0022760|MONDO:0011652|MONDO:8000031 subtype of a disorder -MONDO:0971069 phelan-mcdermid syndrome due to shank3 mutation Orphanet:662172 MONDO:equivalentTo Phelan-McDermid syndrome due to SHANK3 mutation MONDO:0011652|MONDO:8000031 subtype of a disorder -MONDO:0971070 macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome Orphanet:662175 MONDO:equivalentTo Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome MONDO:0035863|MONDO:8000032|MONDO:0015159|MONDO:8000034 disorder -MONDO:0971071 microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome Orphanet:662179 MONDO:equivalentTo Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome MONDO:0035863|MONDO:0015159|MONDO:0019589|MONDO:0017119|MONDO:8000032|MONDO:8000034 disorder -MONDO:0971072 congenital muscular dystrophy-cataract-intellectual disability syndrome Orphanet:662184 MONDO:equivalentTo Congenital muscular dystrophy-cataract-intellectual disability syndrome MONDO:0000001|MONDO:0020225|MONDO:0035862|MONDO:0019950|MONDO:8000034 disorder -MONDO:0971073 neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome Orphanet:662189 MONDO:equivalentTo Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome MONDO:8000032|MONDO:8000034|MONDO:0035863|MONDO:0017120|MONDO:0015159 disorder -MONDO:0971074 neurodevelopmental delay-intellectual disability-skeletal defects syndrome Orphanet:662198 MONDO:equivalentTo Neurodevelopmental delay-intellectual disability-skeletal defects syndrome MONDO:8000034|MONDO:8000032|MONDO:0035863|MONDO:0015159 disorder -MONDO:0971076 mucopolysaccharidosis type 10 Orphanet:662216 MONDO:equivalentTo Mucopolysaccharidosis type 10 MONDO:0019058|MONDO:0000001|MONDO:0800088|MONDO:0035862|MONDO:0019249|MONDO:8000034 disorder -MONDO:0971077 episodic memory defect leukoencephalopathy Orphanet:662229 MONDO:equivalentTo Episodic memory defect leukoencephalopathy MONDO:8000034|MONDO:0019046|MONDO:0000001 disorder -MONDO:0971080 grisel syndrome Orphanet:662255 MONDO:equivalentTo Grisel syndrome MONDO:0032013|MONDO:8000034|MONDO:0016434 disorder MONDO:0971082 gastric duplication Orphanet:662376 MONDO:equivalentTo Gastric duplication MONDO:8000034|MONDO:8000030|MONDO:0015209 disorder MONDO:0971083 gallbladder duplication Orphanet:662388 MONDO:equivalentTo Gallbladder duplication MONDO:0015213|MONDO:0015116|MONDO:8000034|MONDO:8000030 disorder MONDO:0971084 colonic duplication Orphanet:662392 MONDO:equivalentTo Colonic duplication MONDO:0015211|MONDO:8000030|MONDO:8000034 disorder MONDO:0971085 pyloric duplication Orphanet:662405 MONDO:equivalentTo Pyloric duplication MONDO:8000034|MONDO:8000030|MONDO:0015209 disorder MONDO:0971086 small intestine duplication Orphanet:662456 MONDO:equivalentTo Small intestine duplication MONDO:8000030|MONDO:0015211|MONDO:8000034 disorder -MONDO:0971087 placenta accreta spectrum disorder Orphanet:662721 MONDO:equivalentTo Placenta accreta spectrum disorder MONDO:0000001|MONDO:0015582|MONDO:8000034 disorder -MONDO:0971088 motor delay-microcephaly-speech impairment-ocular abnormalities syndrome Orphanet:662762 MONDO:equivalentTo Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome MONDO:8000032|MONDO:8000034|MONDO:0017119|MONDO:0035863|MONDO:0015159 disorder MONDO:0971089 vasa previa Orphanet:662786 MONDO:equivalentTo Vasa previa MONDO:0015582|MONDO:8000034|MONDO:0000001 disorder -MONDO:0971090 intellectual disability-speech delay-dysmorphic features-t cell abnormalities syndrome Orphanet:662829 MONDO:equivalentTo Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome MONDO:0015159|MONDO:0035863|MONDO:0000001|MONDO:8000034 disorder -MONDO:0971091 acute megakaryoblastic leukemia in adult Orphanet:662934 MONDO:equivalentTo Acute megakaryoblastic leukemia in adult MONDO:8000031|MONDO:0018872 subtype of a disorder -MONDO:0971092 soft and hard cleft palate Orphanet:664372 MONDO:equivalentTo Soft and hard cleft palate MONDO:0016064|MONDO:8000034|MONDO:8000030 disorder -MONDO:0971093 mgp-related spondyloepiphyseal dysplasia Orphanet:664377 MONDO:equivalentTo MGP-related spondyloepiphyseal dysplasia MONDO:0015329|MONDO:8000032|MONDO:0026187|MONDO:8000034 disorder -MONDO:0971094 cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to tab2 mutation Orphanet:664401 MONDO:equivalentTo Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation MONDO:8000031|MONDO:0016460 subtype of a disorder -MONDO:0971095 6q25.1 microdeletion syndrome Orphanet:664404 MONDO:equivalentTo 6q25.1 microdeletion syndrome MONDO:0016460|MONDO:8000031|MONDO:0016905 subtype of a disorder -MONDO:0971096 brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome Orphanet:664410 MONDO:equivalentTo Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome MONDO:8000034|MONDO:0017120|MONDO:0035863|MONDO:8000032|MONDO:0015159 disorder -MONDO:0971097 neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome Orphanet:664430 MONDO:equivalentTo Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome MONDO:8000032|MONDO:0035863|MONDO:0015159|MONDO:8000034 disorder MONDO:0971099 inherited cancer-predisposing lymphoproliferative syndrome Orphanet:664450 MONDO:equivalentTo Inherited cancer-predisposing lymphoproliferative syndrome MONDO:8000033|MONDO:0015356 group of disorders MONDO:0971100 immune dysregulation disease with immunodeficiency associated with ebv susceptibility Orphanet:664456 MONDO:equivalentTo Immune dysregulation disease with immunodeficiency associated with EBV susceptibility MONDO:8000033|MONDO:0015710 group of disorders -MONDO:0971103 nicolau syndrome Orphanet:664787 MONDO:equivalentTo Nicolau syndrome MONDO:8000034|MONDO:0032013|MONDO:0019546 disorder -MONDO:0971105 neonatal renal venous thrombosis Orphanet:664912 MONDO:equivalentTo Neonatal renal venous thrombosis MONDO:8000034|MONDO:0000001|MONDO:0019750 disorder -MONDO:0971106 congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome Orphanet:664923 MONDO:equivalentTo Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome MONDO:0015168|MONDO:0015159|MONDO:0035863|MONDO:0000001|MONDO:8000034|MONDO:0017119 disorder -MONDO:0971107 common arterial trunk with aortic dominance Orphanet:665044 MONDO:equivalentTo Common arterial trunk with aortic dominance MONDO:8000031|MONDO:0018072 subtype of a disorder -MONDO:0971108 common arterial trunk with pulmonary dominance and interrupted aortic arch Orphanet:665058 MONDO:equivalentTo Common arterial trunk with pulmonary dominance and interrupted aortic arch MONDO:8000031|MONDO:0018072 subtype of a disorder MONDO:0971109 isolated congenital femoral bifurcation Orphanet:667589 MONDO:equivalentTo Isolated congenital femoral bifurcation MONDO:8000034|MONDO:8000030|MONDO:0017420 disorder -MONDO:0971111 intraoral basal cell carcinoma Orphanet:667678 MONDO:equivalentTo Intraoral basal cell carcinoma MONDO:0000001|MONDO:0017797|MONDO:8000034 disorder -MONDO:0971112 craniosynostosis-facial dysmorphism-brachydactyly syndrome Orphanet:672979 MONDO:equivalentTo Craniosynostosis-facial dysmorphism-brachydactyly syndrome MONDO:8000032|MONDO:0015338|MONDO:8000034 disorder -MONDO:0971113 craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome Orphanet:672985 MONDO:equivalentTo Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome MONDO:0015338|MONDO:8000032|MONDO:8000034 disorder -MONDO:0971115 benign vascular tumor Orphanet:673470 MONDO:equivalentTo Benign vascular tumor MONDO:8000033|MONDO:0016228 group of disorders -MONDO:0971116 borderline vascular tumor Orphanet:673473 MONDO:equivalentTo Borderline vascular tumor MONDO:8000033|MONDO:0016228 group of disorders -MONDO:0971118 pilocytic astrocytoma with histological features of anaplasia Orphanet:673585 MONDO:equivalentTo Pilocytic astrocytoma with histological features of anaplasia MONDO:8000031|MONDO:0016691 subtype of a disorder -MONDO:0971119 proteoglycan-related bone disorder Orphanet:674499 MONDO:equivalentTo Proteoglycan-related bone disorder MONDO:8000033|MONDO:0031799 group of disorders MONDO:0971120 syndrome with congenital phagocyte functional defect as a major feature Orphanet:674648 MONDO:equivalentTo Syndrome with congenital phagocyte functional defect as a major feature MONDO:8000033|MONDO:0015978 group of disorders -MONDO:0971121 early-onset autoinflammatory syndrome due to a20 haploinsufficiency Orphanet:674762 MONDO:equivalentTo Early-onset autoinflammatory syndrome due to A20 haploinsufficiency MONDO:0000001|MONDO:0017957|MONDO:8000034|MONDO:0017370|MONDO:0017369 disorder MONDO:0971122 non-syndromic congenital phagocyte functional defect Orphanet:674896 MONDO:equivalentTo Non-syndromic congenital phagocyte functional defect MONDO:8000033|MONDO:0015978 group of disorders -MONDO:0971123 isolated retinal racemose hemangioma Orphanet:674924 MONDO:equivalentTo Isolated retinal racemose hemangioma MONDO:0000001|MONDO:8000034 disorder -MONDO:0971124 perifoveal exudative vascular anomalous complex Orphanet:674930 MONDO:equivalentTo Perifoveal exudative vascular anomalous complex MONDO:8000034|MONDO:0000001 disorder -MONDO:0971125 torpedo maculopathy Orphanet:674935 MONDO:equivalentTo Torpedo Maculopathy MONDO:0000001|MONDO:8000034 disorder -MONDO:0971126 isolated angioid streaks Orphanet:674943 MONDO:equivalentTo Isolated angioid streaks MONDO:8000034|MONDO:0000001 disorder -MONDO:0971127 diffuse unilateral subacute neuroretinitis Orphanet:674947 MONDO:equivalentTo Diffuse unilateral subacute neuroretinitis MONDO:0015577|MONDO:0000001|MONDO:8000034 disorder -MONDO:0971128 multiple evanescent white dot syndrome Orphanet:674953 MONDO:equivalentTo Multiple evanescent white dot syndrome MONDO:8000034|MONDO:0000001 disorder -MONDO:0971129 stellate multiform amelanotic choroidopathy Orphanet:674958 MONDO:equivalentTo Stellate multiform amelanotic choroidopathy MONDO:8000034|MONDO:0000001 disorder -MONDO:0971130 choroidal osteoma Orphanet:674965 MONDO:equivalentTo Choroidal osteoma MONDO:8000034|MONDO:0000001|MONDO:0015121 disorder -MONDO:0971131 bilateral diffuse uveal melanocytic proliferation disease Orphanet:674968 MONDO:equivalentTo Bilateral diffuse uveal melanocytic proliferation disease MONDO:8000034|MONDO:0000001 disorder -MONDO:0971132 spinocerebellar ataxia type 27b Orphanet:675216 MONDO:equivalentTo Spinocerebellar ataxia type 27B MONDO:0019792|MONDO:8000034|MONDO:0000001 disorder -MONDO:0971133 isolated segmental infantile hemangioma Orphanet:675380 MONDO:equivalentTo Isolated segmental infantile hemangioma MONDO:0016223|MONDO:8000034|MONDO:0000001 disorder -MONDO:0971135 tlr8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome Orphanet:675628 MONDO:equivalentTo TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome MONDO:8000034|MONDO:0000001|MONDO:0018032|MONDO:0020083 disorder -MONDO:0971136 severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to srp54 deficiency Orphanet:675767 MONDO:equivalentTo Severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to SRP54 deficiency MONDO:0035862|MONDO:0018032|MONDO:8000034|MONDO:0000001 disorder -MONDO:0971137 severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome Orphanet:675775 MONDO:equivalentTo Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome MONDO:0015159|MONDO:0016404|MONDO:0035863|MONDO:0020076|MONDO:0000001|MONDO:8000034 disorder -MONDO:0971138 progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to fyve-defective rbsn Orphanet:675782 MONDO:equivalentTo Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN MONDO:8000034|MONDO:0017739|MONDO:0035863|MONDO:0000001|MONDO:0015159 disorder -MONDO:0971139 adenomatoid tumour of the pleura Orphanet:675814 MONDO:equivalentTo Adenomatoid tumour of the pleura MONDO:8000034|MONDO:0000001|MONDO:0015119 disorder -MONDO:0971140 well-differentiated papillary mesothelial tumour of the pleura Orphanet:675822 MONDO:equivalentTo Well-differentiated papillary mesothelial tumour of the pleura MONDO:8000034|MONDO:0000001|MONDO:0015119 disorder -MONDO:0971141 localized pleural mesothelioma Orphanet:675833 MONDO:equivalentTo Localized pleural mesothelioma MONDO:8000031|MONDO:0006292 subtype of a disorder -MONDO:0971142 diffused pleural mesothelioma Orphanet:675837 MONDO:equivalentTo Diffused pleural mesothelioma MONDO:8000031|MONDO:0006292 subtype of a disorder -MONDO:0971143 pleural mesothelioma in situ Orphanet:675841 MONDO:equivalentTo Pleural mesothelioma in situ MONDO:8000031|MONDO:0006292 subtype of a disorder MONDO:0971144 primary benign peritoneal tumor Orphanet:676030 MONDO:equivalentTo Primary benign peritoneal tumor MONDO:8000033|MONDO:0015682 group of disorders -MONDO:0971145 peritoneal mesothelioma in situ Orphanet:676036 MONDO:equivalentTo Peritoneal mesothelioma in situ MONDO:8000034|MONDO:0000001|MONDO:0015683 disorder -MONDO:0971146 combined immunodeficiency due to foxn1 haploinsufficiency Orphanet:676039 MONDO:equivalentTo Combined immunodeficiency due to FOXN1 haploinsufficiency MONDO:8000034|MONDO:0018814|MONDO:0000001 disorder -MONDO:0971147 x-linked immune dysregulation with inflammatory bowel disease due to elf4 deficiency Orphanet:676125 MONDO:equivalentTo X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency MONDO:8000034|MONDO:0017957|MONDO:0000001|MONDO:0033967 disorder -MONDO:0971154 hepatic cutaneous porphyria Orphanet:659698 MONDO:equivalentTo Hepatic cutaneous porphyria MONDO:0002520|MONDO:8000033 group of disorders +MONDO:0975751 brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to mef2c mutation Orphanet:664416 MONDO:equivalentTo Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation MONDO:0013266|MONDO:8000031 subtype of a disorder +MONDO:0975752 littoral cell hemangioma of the spleen Orphanet:673538 MONDO:equivalentTo Littoral cell hemangioma of the spleen MONDO:0000001|MONDO:0971115|MONDO:8000034 disorder +MONDO:0975753 papillary hemangioma Orphanet:673543 MONDO:equivalentTo Papillary hemangioma MONDO:0971115|MONDO:8000034|MONDO:0000001 disorder +MONDO:0975754 pseudomyogenic hemangioendothelioma Orphanet:673556 MONDO:equivalentTo Pseudomyogenic hemangioendothelioma MONDO:0971116|MONDO:8000034|MONDO:0018729|MONDO:0000001 disorder +MONDO:0975755 eccrine angiomatous hamartoma Orphanet:673568 MONDO:equivalentTo Eccrine angiomatous hamartoma MONDO:8000034|MONDO:0000001|MONDO:0019300|MONDO:0971115 disorder +MONDO:0975756 reactive angioendotheliomatosis Orphanet:673574 MONDO:equivalentTo Reactive angioendotheliomatosis MONDO:8000034|MONDO:0971115|MONDO:0000001 disorder +MONDO:0975757 anastomosing haemangioma Orphanet:675359 MONDO:equivalentTo Anastomosing haemangioma MONDO:8000034|MONDO:0971115|MONDO:0000001|MONDO:0018729 disorder +MONDO:0975758 microvenular haemangioma Orphanet:675369 MONDO:equivalentTo Microvenular haemangioma MONDO:0971115|MONDO:8000034|MONDO:0000001 disorder +MONDO:0975759 acquired elastotic haemangioma Orphanet:675597 MONDO:equivalentTo Acquired elastotic haemangioma MONDO:0971115|MONDO:8000034|MONDO:0000001 disorder diff --git a/src/ontology/unmapped/doid-unmapped.owl b/src/ontology/unmapped/doid-unmapped.owl index 23e079a18..16213ba12 100644 --- a/src/ontology/unmapped/doid-unmapped.owl +++ b/src/ontology/unmapped/doid-unmapped.owl @@ -21,6 +21,12 @@ + + + + + + @@ -39,191 +45,219 @@ - + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - - - + - + - + - + - + @@ -263,12 +297,6 @@ - - - - - - diff --git a/src/ontology/unmapped/omim-unmapped.owl b/src/ontology/unmapped/omim-unmapped.owl index 55b8d47b2..c0430698c 100644 --- a/src/ontology/unmapped/omim-unmapped.owl +++ b/src/ontology/unmapped/omim-unmapped.owl @@ -183,6 +183,20466 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + 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+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + @@ -8884,6 +29344,12 @@ + + + + + + @@ -8912,6 +29378,12 @@ + + + + + + @@ -9223,6 +29695,7 @@ acetylcholinesterase yt ACHE + @@ -9541,6 +30014,7 @@ acrosin This term has one or more labels that end with ', INCLUDED'. ACR + @@ -9598,6 +30072,12 @@ + + + + + + @@ -9846,6 +30326,7 @@ ACTN1 actinin, alpha-1 ACTN1 + @@ -9870,6 +30351,7 @@ activin a receptor, type ii-like kinase 2 activin receptor-like kinase 2 ACVR1 + @@ -9908,6 +30390,7 @@ replication factor c, subunit 1 rfc RFC1 + @@ -9967,6 +30450,7 @@ APRT adenine phosphoribosyltransferase APRT + @@ -10143,6 +30627,7 @@ adducin 1 adducin, alpha ADD1 + @@ -10210,6 +30695,7 @@ ADK adenosine kinase ADK + @@ -10234,6 +30720,7 @@ amp deaminase myoadenylate deaminase AMPD1 + @@ -10284,6 +30771,7 @@ AMPD3 adenosine monophosphate deaminase 3 AMPD3 + @@ -10337,6 +30825,7 @@ atpsb mitochondrial atp synthase, beta subunit ATP5F1B + @@ -10409,6 +30898,7 @@ adenylate kinase 1 adenylate kinase, soluble AK1 + @@ -10432,6 +30922,7 @@ adenylate kinase 2 adenylate kinase, mitochondrial myokinase AK2 + @@ -10439,6 +30930,12 @@ + + + + + + @@ -10474,6 +30971,7 @@ adenylyl cyclase 1 adenylyl cyclase, fetal brain, type 1 ADCY1 + @@ -10509,6 +31007,7 @@ ARF1 adp-ribosylation factor 1 ARF1 + @@ -10643,6 +31142,7 @@ AGRN agrin AGRN + @@ -10770,6 +31270,7 @@ formaldehyde dehydrogenase, glutathione-dependent s-nitrosoglutathione reductase ADH5 + @@ -10873,6 +31374,7 @@ fructoaldolase a fructose-1,6-bisphosphate aldolase a ALDOA + @@ -11047,6 +31549,7 @@ glucosidase ii, alpha subunit glucosidase, alpha, neutral ab GANAB + @@ -11112,6 +31615,7 @@ alpha-2-adrenergic receptor, platelet type alpha-2a-adrenergic receptor ADRA2A + @@ -11143,6 +31647,7 @@ alpha-2-macroglobulin receptor-associated protein low density lipoprotein receptor-related protein-associated protein 1 LRPAP1 + @@ -11328,6 +31833,7 @@ rbat solute carrier family 3 (cystine, dibasic, and neutral amino acid transporter), member 1 SLC3A1 + @@ -11352,6 +31858,7 @@ aminoacylase 1 n-acyl-l-amino acid amidohydrolase ACY1 + @@ -11399,6 +31906,12 @@ + + + + + + @@ -11464,6 +31977,12 @@ + + + + + + @@ -11495,6 +32014,12 @@ + + + + + + @@ -11516,6 +32041,12 @@ + + + + + + @@ -11536,6 +32067,12 @@ + + + + + + @@ -11622,6 +32159,7 @@ anaplastic lymphoma kinase This term has one or more labels that end with ', INCLUDED'. ALK + @@ -11630,6 +32168,12 @@ + + + + + + @@ -11653,6 +32197,12 @@ + + + + + + @@ -11705,6 +32255,12 @@ + + + + + + @@ -11750,6 +32306,7 @@ angiogenin ribonuclease a family, 5 ANG + @@ -11912,6 +32469,12 @@ + + + + + + @@ -11947,6 +32510,7 @@ slc2c solute carrier family 4 (anion exchanger), member 3 SLC4A3 + @@ -12287,6 +32851,7 @@ b-lymphocyte antigen cd19 cd19 antigen CD19 + @@ -12313,6 +32878,7 @@ mdu3 pgp1 CD44 + @@ -12338,6 +32904,7 @@ protectin surface antigen recognized by monoclonal antibody 16.3a5 CD59 + @@ -12390,6 +32957,7 @@ heparin cofactor 1 serpin peptidase inhibitor, clade c (antithrombin), member 1 SERPINC1 + @@ -12415,6 +32983,7 @@ sodium/hydrogen exchanger 1 solute carrier family 9, member 1 SLC9A1 + @@ -12457,6 +33026,7 @@ alpha-aasa dehydrogenase antiquitin ALDH7A1 + @@ -12535,6 +33105,7 @@ interferon-alpha receptor interferon-alpha, -beta, and -omega receptor 1 IFNAR1 + @@ -12656,6 +33227,7 @@ tfap2 transcription factor ap2-alpha TFAP2A + @@ -12663,6 +33235,12 @@ + + + + + + @@ -12798,6 +33376,7 @@ apolipoprotein c-iii This term has one or more labels that end with ', INCLUDED'. APOC3 + @@ -13009,6 +33588,7 @@ aquaporin 2 aquaporin-cd AQP2 + @@ -13044,6 +33624,7 @@ arginyl-trna synthetase, cytoplasmic rars RARS1 + @@ -13137,6 +33718,7 @@ aromatic l-amino acid decarboxylase dopa decarboxylase DDC + @@ -13325,6 +33907,7 @@ asparagine synthetase human complement for hamster temperature-sensitive mutant ts11 ASNS + @@ -13513,6 +34096,7 @@ sarcoplasmic reticulum ca(2+)-atpase 1 This term has one or more labels that end with ', INCLUDED'. ATP2A1 + @@ -13536,6 +34120,7 @@ atpase, ca(2+)-transporting, plasma membrane, 1 plasma membrane ca(2+)-atpase, type 1 ATP2B1 + @@ -13619,6 +34204,7 @@ atpase, h+ transporting, lysosomal, 16-kd, v0 subunit c vacuolar proton pump, subunit c ATP6V0C + @@ -13645,6 +34231,7 @@ atpase, h+ transporting, lysosomal, subunit e vacuolar proton pump, 31-kd subunit ATP6V1E1 + @@ -13807,6 +34394,7 @@ atrionatriuretic peptide receptor, type c natriuretic peptide receptor c NPR3 + @@ -13833,6 +34421,12 @@ + + + + + + @@ -14114,6 +34708,7 @@ nonerythroid band 3 solute carrier family 4 (anion exchanger), member 2 SLC4A2 + @@ -14192,6 +34787,7 @@ m6 leukocyte activation antigen tcsf BSG + @@ -14225,6 +34821,7 @@ cd40 antigen tumor necrosis factor receptor superfamily, member 5 CD40 + @@ -14396,6 +34993,7 @@ ADRB3 beta-3-adrenergic receptor ADRB3 + @@ -14493,6 +35091,7 @@ bvr bvra BLVRA + @@ -14517,6 +35116,7 @@ beta-2-adrenergic receptor-like protein g-21 serotonin 5-ht-1a receptor HTR1A + @@ -14636,6 +35236,7 @@ abo histo-blood group glycosyltransferases This term has one or more labels that end with ', INCLUDED'. ABO + @@ -14702,6 +35303,7 @@ adp-ribosyltransferase 4 dok1 ART4 + @@ -14778,6 +35380,12 @@ + + + + + + @@ -14799,6 +35407,12 @@ + + + + + + @@ -14832,6 +35446,7 @@ fucosyltransferase 3 lewis enzyme FUT3 + @@ -14873,6 +35488,12 @@ + + + + + + @@ -14915,6 +35536,12 @@ + + + + + + @@ -15044,6 +35671,7 @@ rhe rhesus blood group, ccee antigens RHCE + @@ -15145,6 +35773,12 @@ + + + + + + @@ -15189,6 +35823,7 @@ immunoglobulin-associated alpha membrane-bound immunoglobulin igm-alpha CD79A + @@ -15213,6 +35848,7 @@ cd20 membrane-spanning 4 domains, subfamily a, member 1 MS4A1 + @@ -15221,6 +35857,12 @@ + + + + + + @@ -15238,6 +35880,12 @@ + + + + + + @@ -15341,6 +35989,7 @@ procollagen c-proteinase tolloid, drosophila, homolog of BMP1 + @@ -15364,6 +36013,7 @@ bone morphogenetic protein 6 vg1-related sequence BMP6 + @@ -15421,6 +36071,12 @@ + + + + + + @@ -15686,6 +36342,7 @@ bct2 branched-chain aminotransferase 2 BCAT2 + @@ -15713,6 +36370,12 @@ + + + + + + @@ -15815,6 +36478,7 @@ d16s444e ribosomal protein l13 RPL13 + @@ -16023,6 +36687,12 @@ + + + + + + @@ -16067,6 +36737,7 @@ carbamoyl phosphate synthetase/aspartate transcarbamylase/dihydroorotase cpsase/atcase/dhoase CAD + @@ -16094,6 +36765,7 @@ cdhm m-cadherin CDH15 + @@ -16187,6 +36859,7 @@ cadherin-associated protein, related catenin, alpha-2 CTNNA2 + @@ -16256,6 +36929,7 @@ CAST calpastatin CAST + @@ -16333,6 +37007,7 @@ calcitonin receptor ctr CALCR + @@ -16377,6 +37052,7 @@ calpain, small subunit 1 canps CAPNS1 + @@ -16438,6 +37114,7 @@ calmodulin 2 phkd2 CALM2 + @@ -16486,6 +37163,7 @@ calcitonin receptor-like receptor calcr CALCRL + @@ -16529,6 +37207,7 @@ calcium channel, alpha-2/delta subunit calcium channel, voltage-dependent, alpha-2/delta subunit 1 CACNA2D1 + @@ -16679,6 +37358,7 @@ mu-canp, large subunit mu-capn, large subunit CAPN1 + @@ -16737,6 +37417,7 @@ calsequestrin, fast-twitch, skeletal muscle casq CASQ1 + @@ -16760,6 +37441,7 @@ calsequestrin 2 calsequestrin, fast-twitch, cardiac muscle CASQ2 + @@ -16863,6 +37545,30 @@ + + + + + + + + + + + + + + + + + + + + + + + + @@ -16899,6 +37605,36 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + @@ -16940,6 +37676,12 @@ + + + + + + @@ -17038,6 +37780,7 @@ carbonic anhydrase 5a carbonic anhydrase, mitochondrial CA5A + @@ -17063,6 +37806,7 @@ carbonic anhydrase-like sequence carbonic anhydrase-related polypeptide CA8 + @@ -17090,6 +37834,7 @@ serine esterase 1 triacylglycerol hydrolase CES1 + @@ -17131,6 +37876,7 @@ lysophospholipase This term has one or more labels that end with ', INCLUDED'. CEL + @@ -17163,6 +37909,7 @@ carboxypeptidase e carboxypeptidase h CPE + @@ -17296,6 +38043,12 @@ + + + + + + @@ -17371,6 +38124,7 @@ casein kinase ii, alpha subunit casein kinase ii, alpha-1 CSNK2A1 + @@ -17395,6 +38149,7 @@ casein kinase ii, beta subunit phosvitin CSNK2B + @@ -17442,6 +38197,7 @@ CAT catalase CAT + @@ -17548,6 +38304,12 @@ + + + + + + @@ -17588,6 +38350,12 @@ + + + + + + @@ -17605,6 +38373,12 @@ + + + + + + @@ -17632,6 +38406,12 @@ + + + + + + @@ -17652,6 +38432,12 @@ + + + + + + @@ -17681,6 +38467,12 @@ + + + + + + @@ -17741,6 +38533,12 @@ + + + + + + @@ -17776,6 +38574,7 @@ cadherin-associated protein catenin, alpha-1 CTNNA1 + @@ -17884,6 +38683,7 @@ CTSD cathepsin d CTSD + @@ -17950,6 +38750,7 @@ cux This term has one or more labels that end with ', INCLUDED'. CUX1 + @@ -17981,6 +38782,12 @@ + + + + + + @@ -18028,6 +38835,7 @@ mitotin nuclear protein bm28 MCM2 + @@ -18062,6 +38870,7 @@ cell division cycle 42 gtp-binding protein, 25-kd CDC42 + @@ -18095,6 +38904,7 @@ cellular retroviral nucleic acid-binding protein 1 zinc finger protein 9 CNBP + @@ -18158,6 +38968,7 @@ centromeric protein e kinesin family member 10 CENPE + @@ -18176,6 +38987,12 @@ + + + + + + @@ -18239,6 +39056,12 @@ + + + + + + @@ -18267,6 +39090,12 @@ + + + + + + @@ -18300,6 +39129,7 @@ ceruloplasmin ferroxidase CP + @@ -18510,6 +39340,12 @@ + + + + + + @@ -18560,6 +39396,7 @@ rho gtpase-activating protein 2 This term has one or more labels that end with ', INCLUDED'. CHN1 + @@ -18674,6 +39511,7 @@ cytochrome p450c11a1 cytochrome p450scc CYP11A1 + @@ -18696,6 +39534,7 @@ CHAT choline acetyltransferase CHAT + @@ -18720,6 +39559,7 @@ choline kinase, alpha cki, yeast, human complement of CHKA + @@ -18743,6 +39583,7 @@ acetylcholine receptor, muscarinic, 3 cholinergic receptor, muscarinic, 3 CHRM3 + @@ -18766,6 +39607,7 @@ acetylcholine receptor, neuronal nicotinic, alpha-2 subunit cholinergic receptor, neuronal nicotinic, alpha polypeptide 2 CHRNA2 + @@ -18870,6 +39712,7 @@ acetylcholine receptor, neuronal nicotinic, beta-2 subunit cholinergic receptor, neuronal nicotinic, beta polypeptide 2 CHRNB2 + @@ -18941,6 +39784,7 @@ chondroitin sulfate proteoglycan core protein, cartilage versican VCAN + @@ -18980,6 +39824,12 @@ + + + + + + @@ -19086,6 +39936,7 @@ clathrin, heavy polypeptide This term has one or more labels that end with ', INCLUDED'. CLTC + @@ -19250,6 +40101,12 @@ + + + + + + @@ -19424,6 +40281,7 @@ COL10A1 collagen, type x, alpha-1 COL10A1 + @@ -19860,6 +40718,7 @@ ab collagen collagen, type v, alpha-2 COL5A2 + @@ -20347,6 +41206,7 @@ COL13A1 collagen, type xiii, alpha-1 COL13A1 + @@ -20374,6 +41234,7 @@ gelatinase, neutrophil matrix metalloproteinase 2 MMP2 + @@ -20401,6 +41262,7 @@ gelatinase, 92-kd matrix metalloproteinase 9 MMP9 + @@ -20431,6 +41293,12 @@ + + + + + + @@ -20649,6 +41517,7 @@ complement component c1q, a chain serum c1q C1QA + @@ -20673,6 +41542,7 @@ complement component 1, q subcomponent, beta polypeptide complement component c1q, B chain C1QB + @@ -20697,6 +41567,7 @@ complement component 1, q subcomponent, gamma polypeptide complement component c1q, c chain C1QC + @@ -20897,6 +41768,7 @@ complement component 4b complement component 4f C4B + @@ -20959,6 +41831,7 @@ membrane cofactor protein trophoblast-lymphocyte cross-reactive antigen CD46 + @@ -21010,6 +41883,7 @@ c8 alpha complement component 8, alpha subunit C8A + @@ -21034,6 +41908,7 @@ complement component 8, beta subunit complement component c8b C8B + @@ -21227,6 +42102,7 @@ gap junction protein, 46-kd gap junction protein, alpha-3 GJA3 + @@ -21281,6 +42157,12 @@ + + + + + + @@ -21375,6 +42257,7 @@ polyomavirus enhancer-binding protein 2-beta This term has one or more labels that end with ', INCLUDED'. CBFB + @@ -21427,6 +42310,12 @@ + + + + + + @@ -21460,6 +42349,12 @@ + + + + + + @@ -21491,6 +42386,12 @@ + + + + + + @@ -21512,6 +42413,12 @@ + + + + + + @@ -21612,6 +42519,12 @@ + + + + + + @@ -21658,6 +42571,7 @@ serpin peptidase inhibitor, clade a, member 6 transcortin SERPINA6 + @@ -21685,6 +42599,12 @@ + + + + + + @@ -22061,6 +42981,7 @@ crystallin, alpha-a heat-shock protein beta-4 CRYAA + @@ -22127,6 +43048,7 @@ crystallin, beta-a1 crystallin, beta-a1/a3 CRYBA1 + @@ -22152,6 +43074,7 @@ crystallin, beta-b2 This term has one or more labels that end with ', INCLUDED'. CRYBB2 + @@ -22175,6 +43098,7 @@ crystallin, beta-3 crystallin, beta-b3 CRYBB3 + @@ -22197,6 +43121,7 @@ CRYBA4 crystallin, beta-a4 CRYBA4 + @@ -22220,6 +43145,7 @@ crystallin, gamma-2 crystallin, gamma-b CRYGB + @@ -22243,6 +43169,7 @@ crystallin, gamma-3 crystallin, gamma-c CRYGC + @@ -22266,6 +43193,7 @@ crystallin, gamma-4 crystallin, gamma-d CRYGD + @@ -22348,6 +43276,7 @@ crystallin, gamma-8 crystallin, gamma-s CRYGS + @@ -22370,6 +43299,7 @@ CRYM crystallin, mu CRYM + @@ -22406,6 +43336,7 @@ phosphodiesterase 3a phosphodiesterase 3a, cgmp-inhibited PDE3A + @@ -22431,6 +43362,7 @@ creb This term has one or more labels that end with ', INCLUDED'. CREB1 + @@ -22456,6 +43388,7 @@ cyclic nucleotide-gated channel, photoreceptor, cgmp-gated, 1 retinal rod cgmp-gated channel, alpha subunit CNGA1 + @@ -22480,6 +43413,7 @@ cyclin-dependent kinase 4 psk-j3 CDK4 + @@ -22504,6 +43438,7 @@ cnp1 cyclic nucleotide phosphodiesterase CNP + @@ -22528,6 +43463,7 @@ cyclin-dependent kinase 5 pssalre CDK5 + @@ -22550,6 +43486,7 @@ CCND2 cyclin d2 CCND2 + @@ -22581,6 +43518,7 @@ cyclophilin B peptidyl-prolyl isomerase B PPIB + @@ -22625,6 +43563,7 @@ cysteinyl-trna synthetase 1 This term has one or more labels that end with ', INCLUDED'. CARS1 + @@ -22650,6 +43589,7 @@ ctps cytidine 5-prime triphosphate synthetase 1 CTPS1 + @@ -22674,6 +43614,7 @@ cytochrome c oxidase, subunit 4i1 cytochrome c oxidase, subunit iv, isoform 1 COX4I1 + @@ -22697,6 +43638,7 @@ cytochrome c oxidase, subunit 8a cytochrome c oxidase, subunit viii, a COX8A + @@ -22835,6 +43777,7 @@ kb4 keratin 4, type 2 KRT4 + @@ -22876,6 +43819,7 @@ cytochrome c cytochrome c, somatic CYCS + @@ -22898,6 +43842,7 @@ CYC1 cytochrome c1 CYC1 + @@ -22949,6 +43894,7 @@ p450, family 3 p450-iii, steroid-inducible CYP3A4 + @@ -23089,6 +44035,7 @@ cytochrome c oxidase, subunit vib cytochrome c oxidase, subunit vib, polypeptide 1 COX6B1 + @@ -23364,6 +44311,7 @@ pg40 proteoglycan 2 DCN + @@ -23496,6 +44444,12 @@ + + + + + + @@ -23656,6 +44610,7 @@ deoxyribonuclease 1 dnase i, lysosomal DNASE1 + @@ -23766,6 +44721,12 @@ + + + + + + @@ -23978,6 +44939,12 @@ + + + + + + @@ -23995,6 +44962,12 @@ + + + + + + @@ -24048,6 +45021,66 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + @@ -24202,6 +45235,7 @@ dihydrofolate reductase This term has one or more labels that end with ', INCLUDED'. DHFR + @@ -24234,6 +45268,7 @@ alpha-ketoglutarate dehydrogenase complex, e2 component dihydrolipoamide s-succinyltransferase DLST + @@ -24258,6 +45293,7 @@ dihydroorotate dehydrogenase ura1, yeast, human complement of DHODH + @@ -24283,6 +45319,7 @@ cytochrome p450, subfamily 24 vitamin d 24-hydroxylase CYP24A1 + @@ -24319,6 +45356,7 @@ pcbd pterin-4-alpha-carbinolamine dehydratase 1 PCBD1 + @@ -24508,6 +45546,7 @@ deoxyribonuclease ii, lysosomal dnase ii, lysosomal DNASE2 + @@ -24574,6 +45613,7 @@ ercc excision repair 1, endonuclease noncatalytic subunit excision repair, complementing defective, 1n chinese hamster, 1 ERCC1 + @@ -24607,6 +45647,7 @@ LIG1 ligase i, dna, atp-dependent LIG1 + @@ -24673,6 +45714,7 @@ TOP2B topoisomerase, dna, ii, beta TOP2B + @@ -24818,6 +45860,12 @@ + + + + + + @@ -24866,6 +45914,7 @@ downregulated 1n adenoma solute carrier family 26, member 3 SLC26A3 + @@ -25091,6 +46140,12 @@ + + + + + + @@ -25263,6 +46318,7 @@ e protein of small nuclear ribonucleoprotein complexes small nuclear ribonucleoprotein polypeptide e SNRPE + @@ -25464,6 +46520,7 @@ ecto-5-prime nucleotidase nucleotidase, ecto-5-prime NT5E + @@ -25647,6 +46704,12 @@ + + + + + + @@ -25713,6 +46776,12 @@ + + + + + + @@ -25738,6 +46807,12 @@ + + + + + + @@ -25913,6 +46988,7 @@ ETFB electron transfer flavoprotein, beta polypeptide ETFB + @@ -25937,6 +47013,7 @@ erythrocyte membrane protein band 4.1 protein 4.1, red blood cell type EPB41 + @@ -25980,6 +47057,7 @@ eukaryotic translation elongation factor 2 polypeptidyl-trna translocase EEF2 + @@ -26003,6 +47081,7 @@ emetine resistance gene ribosomal protein s14 RPS14 + @@ -26010,6 +47089,12 @@ + + + + + + @@ -26092,6 +47177,12 @@ + + + + + + @@ -26164,6 +47255,7 @@ cd105 endoglin ENG + @@ -26206,6 +47298,7 @@ thymidine phosphorylase tp TYMP + @@ -26235,6 +47328,7 @@ placental protein 4 vascular anticoagulant-alpha ANXA5 + @@ -26383,6 +47477,7 @@ EN1 engrailed 1 EN1 + @@ -26420,6 +47515,7 @@ enhancer-binding protein gata3 gata-binding protein 3 GATA3 + @@ -26444,6 +47540,7 @@ preproenkephalin B prodynorphin PDYN + @@ -26468,6 +47565,7 @@ enolase, beta enolase, muscle-specific ENO3 + @@ -26490,6 +47588,7 @@ EPX eosinophil peroxidase EPX + @@ -26586,6 +47685,7 @@ epidermal growth factor urogastrone EGF + @@ -26885,6 +47985,7 @@ EPHX2 epoxide hydrolase 2, cytosolic EPHX2 + @@ -26932,6 +48033,7 @@ transcription factor coup 1 v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 3 NR2F1 + @@ -26984,6 +48086,12 @@ + + + + + + @@ -27052,6 +48160,7 @@ EPOR erythropoietin receptor EPOR + @@ -27102,6 +48211,18 @@ + + + + + + + + + + + + @@ -27244,6 +48365,7 @@ eukaryotic translation initiation factor 4e family, member 1 messenger RNA cap-binding protein eif4e EIF4E + @@ -27632,6 +48754,7 @@ complement factor d factor d CFD + @@ -27853,6 +48976,7 @@ fibrin stabilizing factor, B subunit fsf, B subunit F13B + @@ -27902,6 +49026,7 @@ farnesyl diphosphate synthase farnesylpyrophosphate synthetase FDPS + @@ -28405,6 +49530,12 @@ + + + + + + @@ -28468,6 +49599,12 @@ + + + + + + @@ -28639,6 +49776,12 @@ + + + + + + @@ -28749,6 +49892,7 @@ flavin-containing dimethylaniline monooxygenase 3 flavin-containing monooxygenase 3 FMO3 + @@ -28951,6 +50095,7 @@ folate-binding protein, adult ovarian cancer-associated antigen FOLR1 + @@ -29010,6 +50155,7 @@ follicular lymphoma variant translocation 1 follicular-variant-translocation gene KDSR + @@ -29080,6 +50226,7 @@ follicle-stimulating hormone, beta polypeptide follitropin, beta chain FSHB + @@ -29108,6 +50255,7 @@ foxo1 This term has one or more labels that end with ', INCLUDED'. FOXO1A + @@ -29222,6 +50370,12 @@ + + + + + + @@ -29293,6 +50447,12 @@ + + + + + + @@ -29359,6 +50519,7 @@ FUT6 fucosyltransferase 6 FUT6 + @@ -29398,6 +50559,12 @@ + + + + + + @@ -29415,6 +50582,12 @@ + + + + + + @@ -29460,6 +50633,7 @@ galactose enzyme activator galactose mutarotase GALM + @@ -29491,6 +50665,7 @@ galanin galn GAL + @@ -29671,6 +50846,7 @@ gaba-a receptor, alpha-5 polypeptide gamma-aminobutyric acid receptor, alpha-5 GABRA5 + @@ -29696,6 +50872,7 @@ gaba-transferase gamma-aminobutyrate transaminase ABAT + @@ -29748,6 +50925,7 @@ gaba-a receptor, delta polypeptide gamma-aminobutyric acid receptor, delta GABRD + @@ -29802,6 +50980,7 @@ gamma-aminobutyric acid transporter solute carrier family 6 (neurotransmitter transporter, gaba), member 1 SLC6A1 + @@ -29869,6 +51048,7 @@ gaba-a receptor, beta-1 polypeptide gamma-aminobutyric acid receptor, beta-1 GABRB1 + @@ -29905,6 +51085,12 @@ + + + + + + @@ -29940,6 +51126,7 @@ glycoprotein a repetitions predominant leucine-rich repeat-containing protein 32 LRRC32 + @@ -30028,6 +51215,7 @@ membrane component, chromosome 1, surface marker 1 tumor-associated calcium signal transducer 2 TACSTD2 + @@ -30090,6 +51278,7 @@ GSN gelsolin GSN + @@ -30207,6 +51396,12 @@ + + + + + + @@ -30250,6 +51445,12 @@ + + + + + + @@ -30315,6 +51516,7 @@ GFAP glial fibrillary acidic protein GFAP + @@ -30323,6 +51525,12 @@ + + + + + + @@ -30434,6 +51642,12 @@ + + + + + + @@ -30468,6 +51682,7 @@ GCGR glucagon receptor GCGR + @@ -30501,6 +51716,7 @@ glucocorticoid receptor nuclear receptor subfamily 3, group c, member 1 NR3C1 + @@ -30593,6 +51809,7 @@ hexose-6-phosphate dehydrogenase hexose-6-phosphate dehydrogenase precursor H6PD + @@ -30636,6 +51853,7 @@ glud glutamate dehydrogenase 1 GLUD1 + @@ -30709,6 +51927,7 @@ aspartate aminotransferase, mitochondrial glutamate oxaloacetate transaminase, mitochondrial GOT2 + @@ -30762,6 +51981,7 @@ aspartate aminotransferase, cytosolic glutamate oxaloacetate transaminase, soluble GOT1 + @@ -30786,6 +52006,7 @@ glutamate pyruvate transaminase 2 glutamate pyruvate transaminase, mitochondrial GPT2 + @@ -30855,6 +52076,7 @@ glutamate receptor 4 glutamate receptor, ionotropic, ampa 4 GRIA4 + @@ -30879,6 +52101,7 @@ glutamate receptor 2 glutamate receptor, ionotropic, ampa 2 GRIA2 + @@ -31042,6 +52265,7 @@ n-methyl-d-aspartate receptor channel, subunit epsilon-1 nr2a GRIN2A + @@ -31164,6 +52388,7 @@ glutamine:fructose-6-phosphate amidotransferase 1 This term has one or more labels that end with ', INCLUDED'. GFPT1 + @@ -31189,6 +52414,7 @@ glutamyl-prolyl-trna synthetase 1 prolyl-trna synthetase EPRS1 + @@ -31211,6 +52437,7 @@ GSR glutathione reductase GSR + @@ -31250,6 +52477,7 @@ glutathione peroxidase 4 phospholipid hydroperoxide glutathione peroxidase GPX4 + @@ -31311,6 +52539,7 @@ glycerol-3-phosphate dehydrogenase, cytosolic glycerophosphate dehydrogenase GPD1 + @@ -31336,6 +52565,7 @@ glycerophosphate dehydrogenase-2 ca(2+)-responsive mitochondrial fad-linked gpd, mitochondrial GPD2 + @@ -31359,6 +52589,7 @@ glycine auxotroph a, human complement for hamster serine hydroxymethyltransferase, mitochondrial SHMT2 + @@ -31424,6 +52655,7 @@ mitochondrial folate transporter solute carrier family 25 (mitochondrial carrier, folate), member 32 SLC25A32 + @@ -31446,6 +52678,7 @@ GLRA1 glycine receptor, alpha-1 subunit GLRA1 + @@ -31468,6 +52701,7 @@ GLRB glycine receptor, beta subunit GLRB + @@ -31504,6 +52738,7 @@ glycogen synthase, muscle gys GYS1 + @@ -31528,6 +52763,7 @@ glycogen synthase, liver liver glycogen synthase GYS2 + @@ -31553,6 +52789,7 @@ fetuin a fetuin, mouse, homolog of AHSG + @@ -31664,6 +52901,7 @@ grhr luteinizing hormone-releasing hormone receptor GNRHR + @@ -31686,6 +52924,7 @@ GSC goosecoid homeobox GSC + @@ -31809,6 +53048,7 @@ interleukin 3 receptor, beta interleukin 5 receptor, beta CSF2RB + @@ -31835,6 +53075,12 @@ + + + + + + @@ -31964,6 +53210,7 @@ growth hormone-releasing factor receptor growth hormone-releasing hormone receptor GHRHR + @@ -32099,6 +53346,7 @@ guanine nucleotide-binding protein, alpha-inhibiting activity polypeptide 1 inhibitory g protein GNAI1 + @@ -32153,6 +53401,7 @@ g-alpha-olf guanine nucleotide-binding protein, alpha-activating activity polypeptide, olfactory type GNAL + @@ -32304,6 +53553,7 @@ guanine nucleotide-binding protein, alpha-transducing activity polypeptide 2 transducin, cone-specific, alpha polypeptide GNAT2 + @@ -32405,6 +53655,7 @@ g protein, alpha-inhibiting 3 guanine nucleotide-binding protein, alpha-inhibiting activity polypeptide 3 GNAI3 + @@ -32508,6 +53759,7 @@ nitric oxide-sensitive guanylyl cyclase, alpha-1 subunit nogc, alpha-1 subunit GUCY1A3 + @@ -32843,6 +54095,7 @@ nck-associated protein 1-like nckap1-like protein NCKAP1L + @@ -32961,6 +54214,12 @@ + + + + + + @@ -33199,6 +54458,7 @@ hemoglobin, gamma a hemoglobin--gamma locus, 136 alanine HBG1 + @@ -33226,6 +54486,7 @@ histone gene cluster 1, h1 histone family, member e histone gene cluster 1, h1e HIST1H1E + @@ -33373,6 +54634,7 @@ leuserpin 2 serpind1 HCF2 + @@ -33396,6 +54658,7 @@ hck protooncogene, src family tyrosine kinase hemopoietic cell kinase HCK + @@ -33450,6 +54713,7 @@ lung fibroblast-derived mitogen scatter factor HGF + @@ -33684,6 +54948,7 @@ d6s82e hla-b-associated transcript 5 ABHD16A + @@ -33706,6 +54971,7 @@ HPCA hippocalcin HPCA + @@ -33764,6 +55030,7 @@ histidine-rich glycoprotein hrgp HRG + @@ -33809,6 +55076,12 @@ + + + + + + @@ -33862,6 +55135,7 @@ HDC histidine decarboxylase HDC + @@ -33914,6 +55188,7 @@ major histocompatibility complex, class i, a This term has one or more labels that end with ', INCLUDED'. HLA-A + @@ -34101,6 +55376,12 @@ + + + + + + @@ -34171,6 +55452,12 @@ + + + + + + @@ -34228,6 +55515,7 @@ homeobox 1i homeobox a11 HOXA11 + @@ -34281,6 +55569,7 @@ homeobox b1 hox-2.9, mouse, homolog of HOXB1 + @@ -34306,6 +55595,7 @@ homeobox c13 This term has one or more labels that end with ', INCLUDED'. HOXC13 + @@ -34446,6 +55736,7 @@ homeobox gene h6 nkx5.3 HMX1 + @@ -34500,6 +55791,7 @@ homeobox gene hb9 motor neuron and pancreas homeobox 1 MNX1 + @@ -34556,6 +55848,7 @@ schnurri, drosophila, homolog of, 2 zas family, member 2 HIVEP2 + @@ -34601,6 +55894,12 @@ + + + + + + @@ -34639,6 +55938,12 @@ + + + + + + @@ -34660,6 +55965,12 @@ + + + + + + @@ -34698,6 +56009,7 @@ mitochondrial trifunctional protein, beta subunit trifunctional protein, beta subunit HADHB + @@ -34772,6 +56084,12 @@ + + + + + + @@ -34788,6 +56106,12 @@ + + + + + + @@ -34806,6 +56130,12 @@ + + + + + + @@ -34824,6 +56154,18 @@ + + + + + + + + + + + + @@ -34953,6 +56295,12 @@ + + + + + + @@ -35029,6 +56377,24 @@ + + + + + + + + + + + + + + + + + + @@ -35209,6 +56575,12 @@ + + + + + + @@ -35266,6 +56638,24 @@ + + + + + + + + + + + + + + + + + + @@ -35462,6 +56852,12 @@ + + + + + + @@ -35500,6 +56896,12 @@ + + + + + + @@ -35516,6 +56918,12 @@ + + + + + + @@ -35650,6 +57058,12 @@ + + + + + + @@ -35716,6 +57130,7 @@ IL7 interleukin 7 IL7 + @@ -35741,6 +57156,7 @@ interleukin 7 receptor interleukin 7 receptor-alpha IL7R + @@ -35796,6 +57212,7 @@ imp dehydrogenase 2 inosine-5-prime-monophosphate dehydrogenase, type 2 IMPDH2 + @@ -35838,6 +57255,7 @@ cd122 antigen interleukin 2 receptor, beta IL2RB + @@ -35872,6 +57290,7 @@ insulin-like peptide, leydig cell-specific relaxin-like factor INSL3 + @@ -35898,6 +57317,7 @@ fcriii-2 immunoglobulin g fc receptor iii-2 FCGR3A + @@ -35905,6 +57325,12 @@ + + + + + + @@ -35961,6 +57387,7 @@ immunoglobulin omega polypeptide chain lambda-5, mouse, homolog of IGLL1 + @@ -36017,6 +57444,12 @@ + + + + + + @@ -36106,6 +57539,7 @@ major histocompatibility complex, class ii, dq alpha-1 This term has one or more labels that end with ', INCLUDED'. HLA-DQA1 + @@ -36162,6 +57596,7 @@ interleukin 8 receptor, beta interleukin 8 receptor, type 2 CXCR2 + @@ -36186,6 +57621,7 @@ interleukin 8 receptor, alpha interleukin 8 receptor, type 1 CXCR1 + @@ -36218,6 +57654,7 @@ interleukin 10 receptor interleukin 10 receptor, alpha IL10RA + @@ -36281,6 +57718,7 @@ immunoglobulin heavy chain constant region mu immunoglobulin heavy chain mu constant region IGHM + @@ -36438,6 +57876,7 @@ recombination signal-binding protein for immunoglobulin kappa j region recombination signal-binding protein suppressor of hairless, drosophila, homolog of RBPJ + @@ -36462,6 +57901,7 @@ immunoglobulin kappa light chain constant region immunoglobulin km IGKC + @@ -36494,6 +57934,7 @@ immunoglobulin-associated b29 protein immunoglobulin-associated beta CD79B + @@ -36622,6 +58063,7 @@ insulin-like growth factor 2 receptor mannose 6-phosphate receptor, cation-independent IGF2R + @@ -36680,6 +58122,7 @@ IGF1R insulin-like growth factor 1 receptor IGF1R + @@ -36726,6 +58169,12 @@ + + + + + + @@ -36761,6 +58210,7 @@ insulin-like growth factor 1 somatomedin c IGF1 + @@ -36819,6 +58269,7 @@ superoxide dismutase 2 superoxide dismutase, mitochondrial SOD2 + @@ -36842,6 +58293,7 @@ insulin-like growth factor 2 somatomedin a IGF2 + @@ -36965,6 +58417,7 @@ cd49f integrin, alpha-6 ITGA6 + @@ -37015,6 +58468,7 @@ ITGB6 integrin, beta-6 ITGB6 + @@ -37049,6 +58503,7 @@ interferon-gamma receptor, accessory factor for interferon-gamma transducer 1 IFNGR2 + @@ -37127,6 +58582,7 @@ interferon-induced protein ifi-15k ubiquitin-like modifier isg15 ISG15 + @@ -37154,6 +58610,7 @@ p48 This term has one or more labels that end with ', INCLUDED'. IRF9 + @@ -37219,6 +58676,7 @@ ire-binding protein 2 iron-responsive element-binding protein 2 IREB2 + @@ -37310,6 +58768,12 @@ + + + + + + @@ -37344,6 +58808,7 @@ isocitrate dehydrogenase, nadp(+), 2 isocitrate dehydrogenase, nadp(+)-specific, mitochondrial IDH2 + @@ -37512,6 +58977,7 @@ isocitrate dehydrogenase, nadp(+)-specific, soluble peroxisomal isocitrate dehydrogenase IDH1 + @@ -37544,6 +59010,7 @@ il1-beta interleukin 1-beta IL1B + @@ -37641,6 +59108,7 @@ JAK1 janus kinase 1 JAK1 + @@ -37730,6 +59198,7 @@ interleukin 1 receptor, alpha, type 1 interleukin 1 receptor, type 1 IL1R1 + @@ -37764,6 +59233,7 @@ intercellular adhesion molecule 1 surface antigen of activated B cells, bb2 ICAM1 + @@ -37848,6 +59318,7 @@ deiodinase, iodothyronine, type 1 thyroxine deiodinase, type 1 DIO1 + @@ -37886,6 +59357,7 @@ kallikrein, renal/pancreatic/salivary kallikrein, tissue KLK1 + @@ -38008,6 +59480,7 @@ keratin 6a, type 2 keratin, epidermal type ii, k6a KRT6A + @@ -38033,6 +59506,7 @@ keratin 6b, type 2 keratin, epidermal type ii, k6b KRT6B + @@ -38058,6 +59532,7 @@ kb3 keratin 3, type 2 KRT3 + @@ -38065,6 +59540,12 @@ + + + + + + @@ -38100,6 +59581,7 @@ ka13 keratin 13, type 1 KRT13 + @@ -38398,6 +59880,12 @@ + + + + + + @@ -38425,6 +59913,12 @@ + + + + + + @@ -38487,6 +59981,7 @@ kinesin-like 1 thyroid hormone receptor-interacting protein 5 KIF11 + @@ -38609,6 +60104,12 @@ + + + + + + @@ -38651,6 +60152,12 @@ + + + + + + @@ -38700,6 +60207,7 @@ lactate dehydrogenase a ldh, subunit m LDHA + @@ -38723,6 +60231,7 @@ lactate dehydrogenase B ldh, subunit h LDHB + @@ -38809,6 +60318,7 @@ LAMB1 laminin, beta-1 LAMB1 + @@ -38960,6 +60470,7 @@ laminin a laminin, alpha-1 LAMA1 + @@ -39176,6 +60687,7 @@ laminin receptor, 67-kd ribosomal protein sa RPSA + @@ -39198,6 +60710,7 @@ LTBP1 latent transforming growth factor-beta-binding protein 1 LTBP1 + @@ -39229,6 +60742,12 @@ + + + + + + @@ -39262,6 +60781,7 @@ galectin 2 lectin, galactoside-binding, soluble, 2 LGALS2 + @@ -39355,6 +60875,12 @@ + + + + + + @@ -39435,6 +60961,7 @@ lrs rntls LARS1 + @@ -39595,6 +61122,7 @@ LIFR leukemia inhibitory factor receptor LIFR + @@ -39634,6 +61162,7 @@ protein-tyrosine phosphatase, receptor-type, c t200 glycoprotein PTPRC + @@ -39697,6 +61226,12 @@ + + + + + + @@ -39884,6 +61419,7 @@ hsl lipase, hormone-sensitive LIPE + @@ -40109,6 +61645,7 @@ loricrin This term has one or more labels that end with ', INCLUDED'. LOR + @@ -40152,6 +61689,12 @@ + + + + + + @@ -40190,6 +61733,7 @@ luteinizing hormone-releasing hormone This term has one or more labels that end with ', INCLUDED'. GNRH1 + @@ -40224,6 +61768,7 @@ luteinizing hormone, beta polypeptide lutropin, beta chain LHB + @@ -40280,6 +61825,12 @@ + + + + + + @@ -40433,6 +61984,7 @@ oncogene lck p56(lck) LCK + @@ -40511,6 +62063,7 @@ LYZ lysozyme LYZ + @@ -40536,6 +62089,7 @@ lysyl hydroxylase 1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase PLOD1 + @@ -40558,6 +62112,7 @@ LOX lysyl oxidase LOX + @@ -40581,6 +62136,7 @@ loxl lysyl oxidase-like 1 LOXL1 + @@ -40616,6 +62172,12 @@ + + + + + + @@ -40662,6 +62224,7 @@ macrophage migration inhibitory factor mmif MIF + @@ -40686,6 +62249,7 @@ scavenger receptor class a, member 1 sra MSR1 + @@ -40840,6 +62404,12 @@ + + + + + + @@ -40875,6 +62445,7 @@ mp17 mp19 LIM2 + @@ -40901,6 +62472,7 @@ mip26 mp26 MIP + @@ -40924,6 +62496,7 @@ malate dehydrogenase 2 malate dehydrogenase, mitochondrial MDH2 + @@ -40950,6 +62523,7 @@ malate dehydrogenase, cytoplasmic malate dehydrogenase, soluble MDH1 + @@ -40991,6 +62565,7 @@ MAK male germ cell-associated kinase MAK + @@ -41050,6 +62625,12 @@ + + + + + + @@ -41071,6 +62652,12 @@ + + + + + + @@ -41110,6 +62697,7 @@ mannose-binding lectin 2 mannose-binding protein, serum MBL2 + @@ -41133,6 +62721,7 @@ mannosephosphate isomerase phosphomannose isomerase 1 MPI + @@ -41166,6 +62755,7 @@ mannosidase, alpha a, cytoplasmic mannosidase, alpha, class 2c, member 1 MAN2C1 + @@ -41268,6 +62858,7 @@ matrix gamma-carboxyglutamic acid matrix gla protein MGP + @@ -41407,6 +62998,12 @@ + + + + + + @@ -41472,6 +63069,7 @@ mc3 receptor melanocortin 3 receptor MC3R + @@ -41777,6 +63375,12 @@ + + + + + + @@ -41924,6 +63528,12 @@ + + + + + + @@ -41996,6 +63606,7 @@ mesado phosphorylase methylthioadenosine phosphorylase MTAP + @@ -42354,6 +63965,7 @@ microseminoprotein, beta mspb MSMB + @@ -42378,6 +63990,7 @@ mtp mtp, large subunit MTTP + @@ -42552,6 +64165,7 @@ complex i, mitochondrial respiratory chain, 75-kd subunit nadh-ubiquinone oxidoreductase fe-s protein 1 NDUFS1 + @@ -42726,6 +64340,18 @@ + + + + + + + + + + + + @@ -42956,6 +64582,7 @@ peanut-reactive urinary mucin polymorphic epithelial mucin MUC1 + @@ -42980,6 +64607,7 @@ multidrug resistance-associated protein multidrug resistance-associated protein 1 ABCC1 + @@ -43039,6 +64667,7 @@ mucin 7, salivary mucin, salivary, low molecular weight MUC7 + @@ -43065,6 +64694,7 @@ receptor for amphotropic murine retrovirus solute carrier family 20 (phosphate transporter), member 2 SLC20A2 + @@ -43282,6 +64912,7 @@ mcc regulator of wnt signaling pathway mutated 1n colorectal cancers MCC + @@ -43402,6 +65033,7 @@ myelin-associated glycoprotein sialic acid-binding immunoglobulin-like lectin 4a MAG + @@ -43424,6 +65056,7 @@ MOG myelin-oligodendrocyte glycoprotein MOG + @@ -43535,6 +65168,7 @@ trithorax, drosophila, homolog of This term has one or more labels that end with ', INCLUDED'. KMT2A + @@ -43599,6 +65233,12 @@ + + + + + + @@ -43647,6 +65287,7 @@ myogenic differentiation antigen 1 myogenic factor 3 MYOD1 + @@ -43669,6 +65310,7 @@ MYF5 myogenic factor 5 MYF5 + @@ -43691,6 +65333,7 @@ MB myoglobin MB + @@ -43717,6 +65360,12 @@ + + + + + + @@ -43743,6 +65392,12 @@ + + + + + + @@ -43944,6 +65599,7 @@ myosin, heavy chain, iia myosin, skeletal, heavy chain, adult 2 MYH2 + @@ -44094,6 +65750,7 @@ myosin, atrial/fetal muscle, light chain myosin, light chain 4, alkali, atrial, embryonic MYL4 + @@ -44152,6 +65809,7 @@ myosin, heavy chain 12 myoxin MYO5A + @@ -44175,6 +65833,7 @@ myosin, light chain, fast skeletal myosin, light polypeptide 1, alkali, skeletal, fast MYL1 + @@ -44233,6 +65892,7 @@ myosin, light chain 1, ventricular myosin, light chain 3, alkali, ventricular, skeletal, slow MYL3 + @@ -44288,6 +65948,12 @@ + + + + + + @@ -44377,6 +66043,7 @@ nadh-ubiquinone oxidoreductase flavoprotein 1 uqor1 NDUFV1 + @@ -44385,6 +66052,12 @@ + + + + + + @@ -44450,6 +66123,12 @@ + + + + + + @@ -44540,6 +66219,7 @@ interleukin 23, p40 subunit natural killer cell stimulatory factor, 40-kd subunit IL12B + @@ -44650,6 +66330,12 @@ + + + + + + @@ -44697,6 +66383,7 @@ nerve growth factor nerve growth factor, beta subunit NGF + @@ -44749,6 +66436,12 @@ + + + + + + @@ -44972,6 +66665,7 @@ tachykinin 2, mouse, homolog of tachykinin 3 TAC3 + @@ -44996,6 +66690,7 @@ neurokinin B receptor tachykinin receptor 3 TACR3 + @@ -45004,6 +66699,12 @@ + + + + + + @@ -45045,6 +66746,7 @@ nescient helix loop helix 2 neuronal scl-like protein 2 NHLH2 + @@ -45174,6 +66876,7 @@ neurotrophin 4/5 neurotrophin 5 NTF4 + @@ -45420,6 +67123,7 @@ nos2a nos2a, inducible, hepatocyte NOS2 + @@ -45541,6 +67245,7 @@ norepinephrine transporter protein 1 solute carrier family 6 (neurotransmitter transporter, noradrenaline), member 2 SLC6A2 + @@ -45610,6 +67315,7 @@ nuclear factor of kappa light chain gene enhancer 1n B cells inhibitor nuclear factor of kappa light chain gene enhancer 1n B cells inhibitor, alpha NFKBIA + @@ -45638,6 +67344,7 @@ metalloprotease, 33-kd procollagen, type iii, n-endopeptidase CHMP1A + @@ -45665,6 +67372,7 @@ transcription factor nfkb1 This term has one or more labels that end with ', INCLUDED'. NFKB1 + @@ -45695,6 +67403,7 @@ transcription factor nfkb2 This term has one or more labels that end with ', INCLUDED'. NFKB2 + @@ -45724,6 +67433,7 @@ v-rel avian reticuloendotheliosis viral oncogene homolog a This term has one or more labels that end with ', INCLUDED'. RELA + @@ -45746,6 +67456,7 @@ MATR3 matrin 3 MATR3 + @@ -45834,6 +67545,7 @@ hnrpc This term has one or more labels that end with ', INCLUDED'. HNRNPC + @@ -45878,6 +67590,7 @@ numatrin This term has one or more labels that end with ', INCLUDED'. NPM1 + @@ -45902,6 +67615,7 @@ purine nucleoside phosphorylase purine-nucleoside:orthophosphate ribosyltransferase PNP + @@ -45952,6 +67666,7 @@ leptin obese, mouse, homolog of LEP + @@ -46012,6 +67727,12 @@ + + + + + + @@ -46078,6 +67799,12 @@ + + + + + + @@ -46134,6 +67861,7 @@ 2-prime,5-prime-oligoisoadenylate synthetase OAS1 OAS1 + @@ -46182,6 +67910,12 @@ + + + + + + @@ -46207,6 +67941,12 @@ + + + + + + @@ -46350,6 +68090,12 @@ + + + + + + @@ -46600,6 +68346,7 @@ ski protooncogene v-ski avian sarcoma viral oncogene homolog SKI + @@ -46914,6 +68661,7 @@ forkhead-like 1 oncogene qin FOXG1 + @@ -46967,6 +68715,7 @@ rel protooncogene, nf-kappa-b subunit v-rel avian reticuloendotheliosis viral oncogene homolog REL + @@ -47043,6 +68792,7 @@ v-int2 murine mammary tumor virus integration site oncogene homolog This term has one or more labels that end with ', INCLUDED'. FGF3 + @@ -47093,6 +68843,7 @@ oncogene wnt5a wingless-type mmtv integration site family, member 5a WNT5A + @@ -47139,6 +68890,7 @@ trna selenocysteine 1 trna-sec (anticodon tca) 1-1 TRU-TCA1-1 + @@ -47170,6 +68922,7 @@ v-ets avian erythroblastosis virus e26 oncogene homolog This term has one or more labels that end with ', INCLUDED'. ERG + @@ -47203,6 +68956,7 @@ oncogene lyn v-yes-1 yamaguchi sarcoma viral related oncogene homolog LYN + @@ -47238,6 +68992,7 @@ spi1 protooncogene spleen focus forming virus proviral integration oncogene spi1 SPI1 + @@ -47260,6 +69015,7 @@ FGF5 fibroblast growth factor 5 FGF5 + @@ -47316,6 +69072,7 @@ oncogene evi1 This term has one or more labels that end with ', INCLUDED'. MECOM + @@ -47463,6 +69220,7 @@ wingless-type mmtv integration site family, member 3 This term has one or more labels that end with ', INCLUDED'. WNT3 + @@ -47532,6 +69290,7 @@ oncogene rho h12 ras homolog gene family, member a RHOA + @@ -47563,6 +69322,12 @@ + + + + + + @@ -47651,6 +69416,7 @@ ornithine decarboxylase 1 This term has one or more labels that end with ', INCLUDED'. ODC1 + @@ -47707,6 +69473,12 @@ + + + + + + @@ -47926,6 +69698,18 @@ + + + + + + + + + + + + @@ -47991,6 +69775,12 @@ + + + + + + @@ -48090,6 +69880,12 @@ + + + + + + @@ -48293,6 +70089,7 @@ paired box gene 1 paired domain gene hup48 PAX1 + @@ -48354,6 +70151,7 @@ paired domain gene 5 This term has one or more labels that end with ', INCLUDED'. PAX5 + @@ -48379,6 +70177,7 @@ paired domain gene 8 This term has one or more labels that end with ', INCLUDED'. PAX8 + @@ -48402,6 +70201,7 @@ paired box gene 9 paired domain gene 9 PAX9 + @@ -48427,6 +70227,7 @@ phox1 prx1 PRRX1 + @@ -48522,6 +70323,24 @@ + + + + + + + + + + + + + + + + + + @@ -48716,6 +70535,7 @@ parathyrin parathyroid hormone PTH + @@ -48836,6 +70656,7 @@ pth-related protein pthr, formerly PTHLH + @@ -49000,6 +70821,12 @@ + + + + + + @@ -49130,6 +70957,12 @@ + + + + + + @@ -49173,6 +71006,7 @@ desmoglein 3 pemphigus vulgaris antigen DSG3 + @@ -49191,6 +71025,12 @@ + + + + + + @@ -49230,6 +71070,7 @@ transporter, abc, mhc, 1 transporter, atp-binding cassette, major histocompatibility complex, 1 TAP1 + @@ -49260,6 +71101,7 @@ transporter, abc, mhc, 2 transporter, atp-binding cassette, major histocompatibility complex, 2 TAP2 + @@ -49322,6 +71164,7 @@ nucleoporin, 85-kd pericentrin, formerly NUP85 + @@ -49345,6 +71188,7 @@ perilipin 1 plin PLIN1 + @@ -49444,6 +71288,7 @@ PRPH peripherin PRPH + @@ -49467,6 +71312,7 @@ myelin p2 protein peripheral myelin protein 2 PMP2 + @@ -49561,6 +71407,7 @@ peroxisomal membrane protein 1 peroxisomal membrane protein, 70-kd ABCD3 + @@ -49654,6 +71501,12 @@ + + + + + + @@ -49675,6 +71528,12 @@ + + + + + + @@ -49760,6 +71619,7 @@ phosphatase, acid, type 5, tartrate-resistant tartrate-resistant acid phosphatase ACP5 + @@ -50059,6 +71919,7 @@ PGM1 phosphoglucomutase 1 PGM1 + @@ -50082,6 +71943,7 @@ n-acetylglucosamine-phosphate mutase 1 phosphoglucomutase 3 PGM3 + @@ -50150,6 +72012,7 @@ phosphoglucose isomerase phosphohexose isomerase GPI + @@ -50203,6 +72066,7 @@ phospholipase a2, group 2a phospholipase a2, synovial PLA2G2A + @@ -50227,6 +72091,7 @@ phospholipase c-148 plc1 PLCG1 + @@ -50251,6 +72116,7 @@ phosphoribosylaminoimidazole carboxylase saicar synthetase PAICS + @@ -50305,6 +72171,7 @@ PHKG2 phosphorylase kinase, testis/liver, gamma-2 PHKG2 + @@ -50328,6 +72195,7 @@ phosphoserine phosphatase psp PSPH + @@ -50350,6 +72218,7 @@ PHKB phosphorylase kinase, beta subunit PHKB + @@ -50414,6 +72283,7 @@ pigment epithelium-derived factor serpin peptidase inhibitor, clade f, member 1 SERPINF1 + @@ -50490,6 +72360,7 @@ pituitary-specific transcription factor 1 pou domain, class 1, transcription factor 1 POU1F1 + @@ -50526,6 +72397,7 @@ ribonuclease/angiogenin inhibitor 1 rnh RNH1 + @@ -50551,6 +72423,7 @@ serpin peptidase inhibitor, clade B (ovalbumin), member 6 spi3, mouse, homolog of SERPINB6 + @@ -50928,6 +72801,7 @@ gp 9 platelet glycoprotein 9 GP9 + @@ -50982,6 +72856,12 @@ + + + + + + @@ -51051,6 +72931,12 @@ + + + + + + @@ -51088,6 +72974,7 @@ polycystin 2 trpp2 PKD2 + @@ -51096,6 +72983,12 @@ + + + + + + @@ -51117,6 +73010,12 @@ + + + + + + @@ -51158,6 +73057,12 @@ + + + + + + @@ -51594,6 +73499,12 @@ + + + + + + @@ -51759,6 +73670,7 @@ KCNC2 potassium channel, voltage-gated, shaw-related subfamily, member 2 KCNC2 + @@ -51783,6 +73695,7 @@ ngk2 potassium channel, voltage-gated, shaw-related subfamily, member 1 KCNC1 + @@ -51807,6 +73720,7 @@ mk1, mouse, homolog of potassium channel, voltage-gated, shaker-related subfamily, member 1 KCNA1 + @@ -51861,6 +73775,7 @@ mk2, mouse, homolog of potassium channel, voltage-gated, shaker-related subfamily, member 2 KCNA2 + @@ -51883,6 +73798,7 @@ KCNC3 potassium channel, voltage-gated, shaw-related subfamily, member 3 KCNC3 + @@ -51911,6 +73827,7 @@ potassium channel, type a potassium channel, voltage-gated, shaker-related subfamily, member 4 KCNA4 + @@ -51937,6 +73854,7 @@ potassium channel, insulinoma and islet cell potassium channel, voltage-gated, shaker-related subfamily, member 5 KCNA5 + @@ -52037,6 +73955,7 @@ pre-b-cell leukemia transcription factor 1 This term has one or more labels that end with ', INCLUDED'. PBX1 + @@ -52088,6 +74007,12 @@ + + + + + + @@ -52144,6 +74069,7 @@ PFN1 profilin 1 PFN1 + @@ -52186,6 +74112,7 @@ primase, p48 subunit primase, p49 subunit PRIM1 + @@ -52306,6 +74233,7 @@ phb1 prohibitin PHB + @@ -52373,6 +74301,7 @@ PCNA proliferating cell nuclear antigen PCNA + @@ -52426,6 +74355,7 @@ proliferation-associated gene a prxi PRDX1 + @@ -52485,6 +74415,7 @@ protein disulfide isomerase/oxidoreductase thyroid hormone-binding protein p55, cellular P4HB + @@ -52589,6 +74520,7 @@ PTGER2 prostaglandin e receptor 2, ep2 subtype PTGER2 + @@ -52847,6 +74779,7 @@ protein-tyrosine phosphatase, nonreceptor-type, 1 protein-tyrosine phosphatase, placental PTPN1 + @@ -52870,6 +74803,7 @@ protein kinase a, c-beta subunit protein kinase, camp-dependent, catalytic, beta PRKACB + @@ -52893,6 +74827,7 @@ protein kinase a, c-gamma subunit protein kinase, camp-dependent, catalytic, gamma PRKACG + @@ -52920,6 +74855,7 @@ protein kinase, cgmp-dependent, regulatory, type 1 This term has one or more labels that end with ', INCLUDED'. PRKG1 + @@ -52944,6 +74880,7 @@ pz vitamin k-dependent plasma glycoprotein PROZ + @@ -52977,6 +74914,7 @@ protein kinase a, ri-beta subunit protein kinase, camp-dependent, regulatory, type i, beta PRKAR1B + @@ -53000,6 +74938,7 @@ protein phosphatase 2, catalytic subunit, alpha isoform protein phosphatase 2a, catalytic subunit, alpha isoform PPP2CA + @@ -53077,6 +75016,7 @@ TYK2 tyrosine kinase 2 TYK2 + @@ -53197,6 +75137,7 @@ ephrin receptor epha2 epithelial cell receptor protein-tyrosine kinase EPHA2 + @@ -53255,6 +75196,7 @@ protein kinase, mitogen-activated, 2 protein tyrosine kinase erk2 MAPK1 + @@ -53304,6 +75246,7 @@ pkcd protein kinase c, delta PRKCD + @@ -53327,6 +75270,7 @@ pkcc protein kinase c, gamma PRKCG + @@ -53335,6 +75279,12 @@ + + + + + + @@ -53383,6 +75333,7 @@ proteasome-related gene 2 ring12 PSMB9 + @@ -53409,6 +75360,7 @@ proteasome-related gene 7 ring10 PSMB8 + @@ -53444,6 +75396,7 @@ protein kinase c substrate, 80-kd, heavy chain This term has one or more labels that end with ', INCLUDED'. PRKCSH + @@ -53466,6 +75419,7 @@ EPB42 protein 4.2, erythrocytic EPB42 + @@ -53609,6 +75563,12 @@ + + + + + + @@ -53836,6 +75796,18 @@ + + + + + + + + + + + + @@ -53921,6 +75893,7 @@ surfactant, pulmonary-associated protein c surfactant-associated protein, pulmonary, 2 SFTPC + @@ -53947,6 +75920,7 @@ surfactant, pulmonary-associated protein a1 surfactant-associated protein, pulmonary 1 SFTPA1 + @@ -53973,6 +75947,7 @@ surfactant, pulmonary-associated protein B surfactant-associated protein, pulmonary, 3 SFTPB + @@ -53997,6 +75972,7 @@ pulmonary surfactant protein aii surfactant, pulmonary-associated protein a2 SFTPA2 + @@ -54098,6 +76074,7 @@ pyridoxine kinase vitamin b6 kinase PDXK + @@ -54159,6 +76136,7 @@ pyruvate dehydrogenase e1, subunit beta pyruvate dehydrogenase, beta polypeptide PDHB + @@ -54183,6 +76161,7 @@ pyruvate dehydrogenase, alpha-2 pyruvate dehydrogenase, e1-alpha polypeptide, testis-specific PDHA2 + @@ -54269,6 +76248,7 @@ RDX radixin RDX + @@ -54320,6 +76300,7 @@ smggds This term has one or more labels that end with ', INCLUDED'. RAP1GDS1 + @@ -54342,6 +76323,7 @@ RAP1B ras-related protein 1b RAP1B + @@ -54366,6 +76348,7 @@ ras-like protooncogene a v-ral simian leukemia viral oncogene homolog a RALA + @@ -54390,6 +76373,7 @@ protein-tyrosine phosphatase, receptor-type, f receptor-linked protein-tyrosine phosphatase lar PTPRF + @@ -54641,6 +76625,7 @@ proline-rich mitotic checkpoint control factor This term has one or more labels that end with ', INCLUDED'. PRCC + @@ -54738,6 +76723,7 @@ replication protein a1, 70-kd rpa70 RPA1 + @@ -54824,6 +76810,7 @@ retinal degeneration 3 retinal degeneration 3, mouse, homolog of RD3 + @@ -54909,6 +76896,7 @@ phosphodiesterase 6a, cgmp-specific, rod, alpha retinal rod photoreceptor cgmp phosphodiesterase, alpha subunit PDE6A + @@ -54965,6 +76953,7 @@ phosphodiesterase 6g, cgmp-specific, rod, gamma retinal rod photoreceptor cgmp phosphodiesterase, gamma subunit PDE6G + @@ -55017,6 +77006,12 @@ + + + + + + @@ -55052,6 +77047,12 @@ + + + + + + @@ -55108,6 +77109,7 @@ lysine-specific demethylase 5a retinoblastoma-binding protein 2 KDM5A + @@ -55133,6 +77135,7 @@ retinoblastoma-like 2 retinoblastoma-related gene rb2 RBL2 + @@ -55168,6 +77171,7 @@ rar-epsilon retinoic acid receptor, beta RARB + @@ -55253,6 +77257,7 @@ retinol-binding protein 3 retinol-binding protein, interstitial RBP3 + @@ -55306,6 +77311,24 @@ + + + + + + + + + + + + + + + + + + @@ -55416,6 +77439,7 @@ rhodopsin kinase rk GRK1 + @@ -55460,6 +77484,7 @@ ribonucleotide reductase, m1 subunit ribonucleotide reductase, r1 subunit RRM1 + @@ -55483,6 +77508,7 @@ ribose 5-phosphate isomerase a rpi RPIA + @@ -55508,6 +77534,7 @@ ribonuclease 50 ribonuclease, 2-5a-dependent, interferon-induced RNASEL + @@ -55548,6 +77575,7 @@ RPL35A ribosomal protein l35a RPL35A + @@ -55575,6 +77603,7 @@ ribosomal protein s17 This term has one or more labels that end with ', INCLUDED'. RPS17 + @@ -55642,6 +77671,7 @@ polymerase ii, rna, subunit a rpb1, s. cerevisiae, homolog of POLR2A + @@ -55650,6 +77680,12 @@ + + + + + + @@ -55693,6 +77729,7 @@ rod outer segment protein 1 rosp1 ROM1 + @@ -55883,6 +77920,7 @@ ryanodine receptor 3 ryanodine receptor, brain RYR3 + @@ -55948,6 +77986,7 @@ s-adenosylhomocysteine hydrolase sahh AHCY + @@ -56054,6 +78093,12 @@ + + + + + + @@ -56144,6 +78189,12 @@ + + + + + + @@ -56178,6 +78229,18 @@ + + + + + + + + + + + + @@ -56258,6 +78321,7 @@ scl-interrupting locus scl/tal1-interrupting locus STIL + @@ -56372,6 +78436,7 @@ osteonectin secreted protein, acidic, cysteine-rich SPARC + @@ -56394,6 +78459,7 @@ SPR sepiapterin reductase SPR + @@ -56536,6 +78602,12 @@ + + + + + + @@ -56661,6 +78733,7 @@ small nuclear ribonucleoprotein polypeptides B and b-prime small nuclear ribonucleoprotein polypeptides B and b1 SNRPB + @@ -56693,6 +78766,12 @@ + + + + + + @@ -56729,6 +78808,7 @@ sodium/hydrogen exchanger, apical epithelial solute carrier family 9, member 3 SLC9A3 + @@ -56939,6 +79019,7 @@ sodium-glucose transporter 1 solute carrier family 5 (sodium/glucose cotransporter), member 1 SLC5A1 + @@ -56964,6 +79045,7 @@ sodium-glucose transporter 2 solute carrier family 5 (sodium/glucose cotransporter), member 2 SLC5A2 + @@ -57101,6 +79183,7 @@ sodium/taurocholate cotransporting polypeptide, hepatic solute carrier family 10 (sodium/bile acid cotransporter family), member 1 SLC10A1 + @@ -57143,6 +79226,7 @@ SON son dna-binding protein SON + @@ -57168,6 +79252,7 @@ sorbitol dehydrogenase 1 This term has one or more labels that end with ', INCLUDED'. SORD + @@ -57220,6 +79305,12 @@ + + + + + + @@ -57288,6 +79379,7 @@ spectrin, beta-ii spectrin, nonerythroid, beta subunit SPTBN1 + @@ -57481,6 +79573,7 @@ sperm receptor, secondary zona pellucida glycoprotein 2 ZP2 + @@ -57507,6 +79600,7 @@ zona pellucida glycoprotein 3a This term has one or more labels that end with ', INCLUDED'. ZP3 + @@ -57523,6 +79617,12 @@ + + + + + + @@ -57559,6 +79659,18 @@ + + + + + + + + + + + + @@ -58010,6 +80122,7 @@ farnesyldiphosphate farnesyltransferase 1 squalene synthase FDFT1 + @@ -58057,6 +80170,7 @@ sry-box 4 sry-related hmg-box gene 4 SOX4 + @@ -58124,6 +80238,7 @@ stefin a stf1 CSTA + @@ -58248,6 +80363,7 @@ sterol carrier protein 10 sterol carrier protein 2 SCP2 + @@ -58491,6 +80607,7 @@ stromelysin 1 transin MMP3 + @@ -58698,6 +80815,7 @@ p65 synaptotagmin 1 SYT1 + @@ -58803,6 +80921,7 @@ synaptic vesicle glycoprotein 2 synaptic vesicle glycoprotein 2a SV2A + @@ -58855,6 +80974,7 @@ synaptobrevin 2 vesicle-associated membrane protein 2 VAMP2 + @@ -58957,6 +81077,7 @@ syndecan 3 syndecan, neural type SDC3 + @@ -59063,6 +81184,7 @@ syntaxin 4 syntaxin, placental STX4 + @@ -59123,6 +81245,7 @@ t-cell activation antigen s152 tumor necrosis factor receptor superfamily, member 7 CD27 + @@ -59147,6 +81270,7 @@ cd3-gamma t-cell antigen receptor complex, gamma subunit of t3 CD3G + @@ -59172,7 +81296,7 @@ - + CD28 @@ -59180,6 +81304,7 @@ t-cell antigen cd28 tp44 CD28 + @@ -59205,6 +81330,7 @@ cd3-zeta t-cell antigen receptor complex, zeta subunit of cd3 CD247 + @@ -59230,6 +81356,7 @@ okt3, delta chain t-cell antigen receptor complex, delta subunit of t3 CD3D + @@ -59277,6 +81404,7 @@ cd81 antigen target of antiproliferative antibody 1 CD81 + @@ -59310,6 +81438,7 @@ proteasome 26s subunit, atpase, 3 tat-binding protein 1 PSMC3 + @@ -59333,6 +81462,7 @@ solute carrier family 6 (neurotransmitter transporter, taurine), member 6 taurine transporter SLC6A6 + @@ -59355,6 +81485,7 @@ TAL2 t-cell acute lymphocytic leukemia 2 TAL2 + @@ -59393,6 +81524,7 @@ TRAC t-cell receptor alpha chain constant region TRAC + @@ -59430,6 +81562,7 @@ t8 t-cell antigen This term has one or more labels that end with ', INCLUDED'. CD8A + @@ -59539,6 +81672,7 @@ t-cell itk/tsk tyrosine kinase, mouse, homolog of tyrosine kinase expressed mainly 1n t cells ITK + @@ -59620,6 +81754,7 @@ t-cell acute lymphocytic leukemia 1 t-cell leukemia/lymphoma 5 TAL1 + @@ -59716,6 +81851,12 @@ + + + + + + @@ -59833,6 +81974,7 @@ tenascin tenascin c TNC + @@ -59911,6 +82053,7 @@ c-type lectin domain family 3, member B tetranectin CLEC3B + @@ -59978,6 +82121,7 @@ TPMT thiopurine s-methyltransferase TPMT + @@ -60031,6 +82175,7 @@ threonyl-trna synthetase 1 thrrs TARS1 + @@ -60051,6 +82196,12 @@ + + + + + + @@ -60091,6 +82242,12 @@ + + + + + + @@ -60256,6 +82413,7 @@ TBXA2R thromboxane a2 receptor, platelet TBXA2R + @@ -60344,6 +82502,7 @@ deoxythymidylate kinase thymidylate kinase DTYMK + @@ -60368,6 +82527,7 @@ thymidylate synthase thymidylate synthetase TYMS + @@ -60438,6 +82598,12 @@ + + + + + + @@ -60479,6 +82645,7 @@ thyrotropin, beta chain tsh-beta TSHB + @@ -60501,6 +82668,7 @@ TRHR thyrotropin-releasing hormone receptor TRHR + @@ -60639,6 +82807,7 @@ TIMP3 tissue inhibitor of metalloproteinase 3 TIMP3 + @@ -60978,6 +83147,7 @@ translocated promoter region tumor potentiating region TPR + @@ -61022,6 +83192,7 @@ tfiie, beta subunit transcription factor iie, beta subunit GTF2E2 + @@ -61046,6 +83217,7 @@ transcription factor 13 transcriptional enhancer factor 1 TEAD1 + @@ -61131,6 +83303,7 @@ TF transferrin TF + @@ -61157,6 +83330,7 @@ transferrin receptor 1 trfr TFRC + @@ -61288,6 +83462,7 @@ oncogene mos v-mos moloney murine sarcoma viral oncogene homolog MOS + @@ -61410,6 +83585,7 @@ protooncogene homologous to myelocytomatosis virus v-myc avian myelocytomatosis viral oncogene homolog MYC + @@ -61499,6 +83675,7 @@ v-erb-a avian erythroblastic leukemia viral oncogene homolog 1 This term has one or more labels that end with ', INCLUDED'. THRA + @@ -61703,6 +83880,7 @@ transglutaminase, epidermal type 1 transglutaminase, keratinocyte TGM1 + @@ -61728,6 +83906,7 @@ tag1, rat, homolog of transiently-expressed axonal glycoprotein CNTN2 + @@ -61789,6 +83968,7 @@ TGFB2 transforming growth factor, beta-2 TGFB2 + @@ -61888,6 +84068,12 @@ + + + + + + @@ -61976,6 +84162,7 @@ trhy trichohyalin TCHH + @@ -62058,6 +84245,7 @@ tpi triosephosphate isomerase 1 TPI1 + @@ -62080,6 +84268,7 @@ TPP2 tripeptidyl peptidase 2 TPP2 + @@ -62164,6 +84353,12 @@ + + + + + + @@ -62307,6 +84502,7 @@ troponin c, fast troponin c, fast skeletal TNNC2 + @@ -62394,6 +84590,7 @@ TNNI2 troponin i, fast-twitch skeletal muscle isoform TNNI2 + @@ -62524,6 +84721,7 @@ tryptophan 2,3-dioxygenase tryptophan oxygenase TDO2 + @@ -62617,6 +84815,7 @@ tubulin, alpha-1 tubulin, alpha-4a TUBA4A + @@ -62672,6 +84871,7 @@ tubulin, gamma-1 tubulin-gamma complex-associated protein 1 TUBG1 + @@ -62743,6 +84943,7 @@ otu domain-containing protein 7c tumor necrosis factor-alpha-induced protein 3 TNFAIP3 + @@ -62903,6 +85104,7 @@ oncogene cot tumor progression locus 2 MAP3K8 + @@ -62959,6 +85161,7 @@ dopachrome tautomerase tyrosinase-related protein 2 DCT + @@ -62981,6 +85184,7 @@ TH tyrosine hydroxylase TH + @@ -63004,6 +85208,7 @@ blk protooncogene, src family tyrosine kinase tyrosine kinase, b-lymphocyte specific BLK + @@ -63097,6 +85302,7 @@ tyrosine kinase receptor a This term has one or more labels that end with ', INCLUDED'. NTRK1 + @@ -63120,6 +85326,7 @@ u2 small nuclear RNA auxiliary factor 2 u2 small nuclear ribonucleoprotein auxiliary factor, 65-kd subunit U2AF2 + @@ -63151,6 +85358,7 @@ rieske iron-sulfur protein ubiquinol-cytochrome c reductase, rieske iron-sulfur UQCRFS1 + @@ -63174,6 +85382,7 @@ cytochrome bc1 ubiquinol-cytochrome c reductase core protein 1 UQCRC1 + @@ -63196,6 +85405,7 @@ UQCRC2 ubiquinol-cytochrome c reductase core protein 2 UQCRC2 + @@ -63220,6 +85430,7 @@ ubiquinone-binding protein uqpc UQCRB + @@ -63350,6 +85561,12 @@ + + + + + + @@ -63415,6 +85632,7 @@ upstream stimulatory factor 1 upstream transcription factor 1 USF1 + @@ -63445,6 +85663,7 @@ uracil-dna glycosylase This term has one or more labels that end with ', INCLUDED'. UNG + @@ -63623,6 +85842,7 @@ ugpp2 uridyl diphosphate glucose pyrophosphorylase 2 UGP2 + @@ -63651,6 +85871,12 @@ + + + + + + @@ -63717,6 +85943,7 @@ tamm-horsfall glycoprotein uromodulin UMOD + @@ -63892,6 +86119,7 @@ atpase, h+ transporting, lysosomal, 56/58-kd, v1 subunit b, isoform 1 vacuolar proton pump, subunit 3 ATP6V1B1 + @@ -63918,6 +86146,7 @@ vars vars2, formerly VARS1 + @@ -63950,6 +86179,7 @@ vascular endothelial growth factor a vegf VEGFA + @@ -64008,6 +86238,7 @@ vasopressin-neurophysin 2 This term has one or more labels that end with ', INCLUDED'. AVP + @@ -64082,6 +86313,12 @@ + + + + + + @@ -64174,6 +86411,7 @@ VLDLR very low density lipoprotein receptor VLDLR + @@ -64218,6 +86456,7 @@ vesicular amine transporter 2 vesicular monoamine transporter 2 SLC18A2 + @@ -64302,6 +86541,7 @@ VIM vimentin VIM + @@ -64359,6 +86599,7 @@ viral integration region fli1, mouse, homolog of This term has one or more labels that end with ', INCLUDED'. FLI1 + @@ -64446,6 +86687,12 @@ + + + + + + @@ -64621,6 +86868,12 @@ + + + + + + @@ -64825,6 +87078,7 @@ x box-binding protein 1 x box-binding protein 2 XBP1 + @@ -64848,6 +87102,7 @@ x-ray repair cross complementing 1 x-ray repair, complementing defective, 1n chinese hamster, 1 XRCC1 + @@ -64871,6 +87126,7 @@ x-ray repair cross complementing 4 x-ray repair, complementing defective, 1n chinese hamster, 4 XRCC4 + @@ -64990,6 +87246,7 @@ ZNF141 zinc finger protein 141 ZNF141 + @@ -65012,6 +87269,7 @@ ZP1 zona pellucida glycoprotein 1 ZP1 + @@ -65028,6 +87286,12 @@ + + + + + + @@ -65069,6 +87333,12 @@ + + + + + + @@ -65124,6 +87394,7 @@ acetyl-coa carboxylase 1 acetyl-coa carboxylase-alpha ACACA + @@ -65312,6 +87583,12 @@ + + + + + + @@ -65351,6 +87628,12 @@ + + + + + + @@ -65450,6 +87733,12 @@ + + + + + + @@ -65467,6 +87756,12 @@ + + + + + + @@ -65496,6 +87791,12 @@ + + + + + + @@ -65516,6 +87817,12 @@ + + + + + + @@ -65542,6 +87849,12 @@ + + + + + + @@ -65570,6 +87883,12 @@ + + + + + + @@ -65650,6 +87969,12 @@ + + + + + + @@ -65741,6 +88066,12 @@ + + + + + + @@ -65866,6 +88197,12 @@ + + + + + + @@ -65929,6 +88266,12 @@ + + + + + + @@ -65945,6 +88288,12 @@ + + + + + + @@ -65984,6 +88333,12 @@ + + + + + + @@ -66038,6 +88393,12 @@ + + + + + + @@ -66058,6 +88419,12 @@ + + + + + + @@ -66102,6 +88469,12 @@ + + + + + + @@ -66155,6 +88528,12 @@ + + + + + + @@ -66239,6 +88618,12 @@ + + + + + + @@ -66260,6 +88645,12 @@ + + + + + + @@ -66316,6 +88707,12 @@ + + + + + + @@ -66429,6 +88826,12 @@ + + + + + + @@ -66456,6 +88859,12 @@ + + + + + + @@ -66472,6 +88881,12 @@ + + + + + + @@ -66510,6 +88925,12 @@ + + + + + + @@ -66587,6 +89008,12 @@ + + + + + + @@ -66622,6 +89049,12 @@ + + + + + + @@ -66740,6 +89173,12 @@ + + + + + + @@ -66797,6 +89236,12 @@ + + + + + + @@ -66815,6 +89260,12 @@ + + + + + + @@ -66862,6 +89313,12 @@ + + + + + + @@ -66920,6 +89377,12 @@ + + + + + + @@ -66990,6 +89453,12 @@ + + + + + + @@ -67010,6 +89479,12 @@ + + + + + + @@ -67043,6 +89518,12 @@ + + + + + + @@ -67114,6 +89595,12 @@ + + + + + + @@ -67225,6 +89712,12 @@ + + + + + + @@ -67283,6 +89776,12 @@ + + + + + + @@ -67424,6 +89923,18 @@ + + + + + + + + + + + + @@ -67461,6 +89972,7 @@ BBS1 bbs1 gene BBS1 + @@ -67538,6 +90050,12 @@ + + + + + + @@ -67558,6 +90076,12 @@ + + + + + + @@ -67579,6 +90103,12 @@ + + + + + + @@ -67631,6 +90161,12 @@ + + + + + + @@ -67740,6 +90276,12 @@ + + + + + + @@ -67800,6 +90342,12 @@ + + + + + + @@ -67845,6 +90393,7 @@ h antigen hh FUT1 + @@ -67870,6 +90419,12 @@ + + + + + + @@ -68053,6 +90608,12 @@ + + + + + + @@ -68080,6 +90641,12 @@ + + + + + + @@ -68108,6 +90675,12 @@ + + + + + + @@ -68190,6 +90763,18 @@ + + + + + + + + + + + + @@ -68228,6 +90813,12 @@ + + + + + + @@ -68257,6 +90848,12 @@ + + + + + + @@ -68278,6 +90875,12 @@ + + + + + + @@ -68308,6 +90911,12 @@ + + + + + + @@ -68342,6 +90951,12 @@ + + + + + + @@ -68419,6 +91034,12 @@ + + + + + + @@ -68436,6 +91057,12 @@ + + + + + + @@ -68547,6 +91174,12 @@ + + + + + + @@ -68607,6 +91240,12 @@ + + + + + + @@ -68667,6 +91306,12 @@ + + + + + + @@ -68733,6 +91378,12 @@ + + + + + + @@ -68777,6 +91428,12 @@ + + + + + + @@ -68835,6 +91492,12 @@ + + + + + + @@ -68859,6 +91522,12 @@ + + + + + + @@ -68904,6 +91573,12 @@ + + + + + + @@ -68997,6 +91672,12 @@ + + + + + + @@ -69061,6 +91742,12 @@ + + + + + + @@ -69080,6 +91767,12 @@ + + + + + + @@ -69097,6 +91790,12 @@ + + + + + + @@ -69381,6 +92080,12 @@ + + + + + + @@ -69504,6 +92209,12 @@ + + + + + + @@ -69543,6 +92254,12 @@ + + + + + + @@ -69558,6 +92275,12 @@ + + + + + + @@ -69659,6 +92382,7 @@ C6 complement component 6 C6 + @@ -69681,6 +92405,7 @@ C7 complement component 7 C7 + @@ -69688,6 +92413,12 @@ + + + + + + @@ -69777,6 +92508,12 @@ + + + + + + @@ -69849,6 +92586,12 @@ + + + + + + @@ -69914,6 +92657,12 @@ + + + + + + @@ -69994,6 +92743,12 @@ + + + + + + @@ -70012,6 +92767,12 @@ + + + + + + @@ -70139,6 +92900,12 @@ + + + + + + @@ -70186,6 +92953,12 @@ + + + + + + @@ -70205,6 +92978,12 @@ + + + + + + @@ -70246,6 +93025,12 @@ + + + + + + @@ -70346,6 +93131,12 @@ + + + + + + @@ -70449,6 +93240,18 @@ + + + + + + + + + + + + @@ -70494,6 +93297,12 @@ + + + + + + @@ -70515,6 +93324,12 @@ + + + + + + @@ -70533,6 +93348,12 @@ + + + + + + @@ -70707,6 +93528,12 @@ + + + + + + @@ -70815,6 +93642,12 @@ + + + + + + @@ -70843,6 +93676,12 @@ + + + + + + @@ -70920,6 +93759,12 @@ + + + + + + @@ -71028,6 +93873,12 @@ + + + + + + @@ -71098,6 +93949,12 @@ + + + + + + @@ -71126,6 +93983,12 @@ + + + + + + @@ -71155,6 +94018,12 @@ + + + + + + @@ -71178,6 +94047,12 @@ + + + + + + @@ -71199,6 +94074,12 @@ + + + + + + @@ -71219,6 +94100,12 @@ + + + + + + @@ -71236,6 +94123,12 @@ + + + + + + @@ -71314,6 +94207,12 @@ + + + + + + @@ -71440,6 +94339,12 @@ + + + + + + @@ -71477,6 +94382,12 @@ + + + + + + @@ -71559,6 +94470,12 @@ + + + + + + @@ -71604,6 +94521,12 @@ + + + + + + @@ -71819,6 +94742,12 @@ + + + + + + @@ -71841,6 +94770,12 @@ + + + + + + @@ -71940,6 +94875,12 @@ + + + + + + @@ -72006,6 +94947,12 @@ + + + + + + @@ -72042,6 +94989,12 @@ + + + + + + @@ -72185,6 +95138,12 @@ + + + + + + @@ -72266,6 +95225,12 @@ + + + + + + @@ -72495,6 +95460,12 @@ + + + + + + @@ -72566,6 +95537,12 @@ + + + + + + @@ -72584,6 +95561,12 @@ + + + + + + @@ -72603,6 +95586,12 @@ + + + + + + @@ -72623,6 +95612,12 @@ + + + + + + @@ -72755,6 +95750,12 @@ + + + + + + @@ -72826,6 +95827,12 @@ + + + + + + @@ -72903,6 +95910,12 @@ + + + + + + @@ -72946,6 +95959,7 @@ klk3, formerly prekallikrein KLKB1 + @@ -72964,6 +95978,12 @@ + + + + + + @@ -72980,6 +96000,12 @@ + + + + + + @@ -72997,6 +96023,12 @@ + + + + + + @@ -73036,6 +96068,12 @@ + + + + + + @@ -73118,6 +96156,12 @@ + + + + + + @@ -73148,6 +96192,12 @@ + + + + + + @@ -73164,6 +96214,12 @@ + + + + + + @@ -73209,6 +96265,12 @@ + + + + + + @@ -73226,6 +96288,12 @@ + + + + + + @@ -73268,6 +96336,12 @@ + + + + + + @@ -73447,6 +96521,12 @@ + + + + + + @@ -73474,6 +96554,12 @@ + + + + + + @@ -73502,6 +96588,12 @@ + + + + + + @@ -73521,6 +96613,12 @@ + + + + + + @@ -73553,6 +96651,12 @@ + + + + + + @@ -73631,6 +96735,12 @@ + + + + + + @@ -73677,6 +96787,12 @@ + + + + + + @@ -73712,6 +96828,7 @@ electron transfer flavoprotein dehydrogenase electron transfer flavoprotein:ubiquinone oxidoreductase ETFDH + @@ -73719,6 +96836,24 @@ + + + + + + + + + + + + + + + + + + @@ -73758,6 +96893,12 @@ + + + + + + @@ -73786,6 +96927,12 @@ + + + + + + @@ -73830,6 +96977,7 @@ pcca complementation group propionyl-coa carboxylase, alpha subunit PCCA + @@ -73853,6 +97001,7 @@ pccbc complementation group propionyl-coa carboxylase, beta subunit PCCB + @@ -73861,6 +97010,12 @@ + + + + + + @@ -73920,6 +97075,12 @@ + + + + + + @@ -74002,6 +97163,12 @@ + + + + + + @@ -74024,6 +97191,12 @@ + + + + + + @@ -74044,6 +97217,12 @@ + + + + + + @@ -74073,6 +97252,12 @@ + + + + + + @@ -74172,6 +97357,12 @@ + + + + + + @@ -74210,6 +97401,12 @@ + + + + + + @@ -74231,6 +97428,12 @@ + + + + + + @@ -74256,6 +97459,12 @@ + + + + + + @@ -74346,6 +97555,12 @@ + + + + + + @@ -74380,6 +97595,12 @@ + + + + + + @@ -74439,6 +97660,12 @@ + + + + + + @@ -74497,6 +97724,12 @@ + + + + + + @@ -74544,6 +97777,12 @@ + + + + + + @@ -74614,6 +97853,12 @@ + + + + + + @@ -74643,6 +97888,12 @@ + + + + + + @@ -74678,6 +97929,12 @@ + + + + + + @@ -74732,6 +97989,12 @@ + + + + + + @@ -74769,6 +98032,12 @@ + + + + + + @@ -74916,6 +98185,12 @@ + + + + + + @@ -74992,6 +98267,12 @@ + + + + + + @@ -75032,6 +98313,12 @@ + + + + + + @@ -75063,6 +98350,12 @@ + + + + + + @@ -75139,6 +98432,12 @@ + + + + + + @@ -75169,6 +98468,18 @@ + + + + + + + + + + + + @@ -75193,6 +98504,12 @@ + + + + + + @@ -75270,6 +98587,7 @@ glycine decarboxylase glycine dehydrogenase GLDC + @@ -75293,6 +98611,7 @@ aminomethyltransferase glycine cleavage system t protein AMT + @@ -75332,6 +98651,7 @@ GCSH glycine cleavage system h protein GCSH + @@ -75362,6 +98682,7 @@ lipoyl dehydrogenase pyruvate dehydrogenase component e3 DLD + @@ -75427,6 +98748,12 @@ + + + + + + @@ -75486,6 +98813,12 @@ + + + + + + @@ -75505,6 +98838,12 @@ + + + + + + @@ -75568,6 +98907,12 @@ + + + + + + @@ -75617,6 +98962,12 @@ + + + + + + @@ -75735,6 +99086,12 @@ + + + + + + @@ -75795,6 +99152,12 @@ + + + + + + @@ -75855,6 +99218,12 @@ + + + + + + @@ -75865,6 +99234,7 @@ extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome woodhouse-sakati syndrome + wss woodhouse-sakati syndrome @@ -75915,6 +99285,12 @@ + + + + + + @@ -75998,6 +99374,12 @@ + + + + + + @@ -76016,6 +99398,12 @@ + + + + + + @@ -76129,6 +99517,12 @@ + + + + + + @@ -76149,6 +99543,12 @@ + + + + + + @@ -76178,6 +99578,12 @@ + + + + + + @@ -76324,6 +99730,12 @@ + + + + + + @@ -76392,6 +99804,12 @@ + + + + + + @@ -76435,6 +99853,12 @@ + + + + + + @@ -76491,6 +99915,12 @@ + + + + + + @@ -76575,6 +100005,7 @@ inversion of embryonic turning nephrocystin 2 INVS + @@ -76618,6 +100049,12 @@ + + + + + + @@ -76659,6 +100096,12 @@ + + + + + + @@ -76688,6 +100131,12 @@ + + + + + + @@ -76708,6 +100157,12 @@ + + + + + + @@ -76727,6 +100182,12 @@ + + + + + + @@ -76767,6 +100228,12 @@ + + + + + + @@ -76794,6 +100261,12 @@ + + + + + + @@ -76818,6 +100291,12 @@ + + + + + + @@ -76911,6 +100390,12 @@ + + + + + + @@ -76951,6 +100436,12 @@ + + + + + + @@ -76996,6 +100487,12 @@ + + + + + + @@ -77047,6 +100544,12 @@ + + + + + + @@ -77065,6 +100568,12 @@ + + + + + + @@ -77083,6 +100592,12 @@ + + + + + + @@ -77107,6 +100622,12 @@ + + + + + + @@ -77168,6 +100689,12 @@ + + + + + + @@ -77203,6 +100730,12 @@ + + + + + + @@ -77304,6 +100837,12 @@ + + + + + + @@ -77434,6 +100973,7 @@ pancreatic lipase pl PNLIP + @@ -77441,6 +100981,12 @@ + + + + + + @@ -77459,6 +101005,12 @@ + + + + + + @@ -77488,6 +101040,12 @@ + + + + + + @@ -77508,6 +101066,12 @@ + + + + + + @@ -77694,6 +101258,12 @@ + + + + + + @@ -77738,6 +101308,12 @@ + + + + + + @@ -77775,6 +101351,12 @@ + + + + + + @@ -77805,6 +101387,12 @@ + + + + + + @@ -77843,6 +101431,12 @@ + + + + + + @@ -77870,6 +101464,12 @@ + + + + + + @@ -77933,6 +101533,12 @@ + + + + + + @@ -77952,6 +101558,12 @@ + + + + + + @@ -77972,6 +101584,12 @@ + + + + + + @@ -78010,6 +101628,7 @@ branched-chain keto acid dehydrogenase complex, e2 component dihydrolipoamide branched-chain transacylase DBT + @@ -78033,6 +101652,7 @@ branched-chain keto acid dehydrogenase e1, beta polypeptide e1b BCKDHB + @@ -78079,6 +101699,12 @@ + + + + + + @@ -78105,6 +101731,12 @@ + + + + + + @@ -78203,6 +101835,12 @@ + + + + + + @@ -78262,6 +101900,12 @@ + + + + + + @@ -78282,6 +101926,12 @@ + + + + + + @@ -78414,6 +102064,12 @@ + + + + + + @@ -78453,6 +102109,12 @@ + + + + + + @@ -78511,6 +102173,12 @@ + + + + + + @@ -78577,6 +102245,12 @@ + + + + + + @@ -78618,6 +102292,12 @@ + + + + + + @@ -78691,6 +102371,12 @@ + + + + + + @@ -78722,6 +102408,12 @@ + + + + + + @@ -78743,6 +102435,12 @@ + + + + + + @@ -78760,6 +102458,12 @@ + + + + + + @@ -78777,6 +102481,12 @@ + + + + + + @@ -78840,6 +102550,12 @@ + + + + + + @@ -78927,6 +102643,12 @@ + + + + + + @@ -78944,6 +102666,12 @@ + + + + + + @@ -78962,6 +102690,12 @@ + + + + + + @@ -78981,6 +102715,12 @@ + + + + + + @@ -79149,6 +102889,12 @@ + + + + + + @@ -79175,6 +102921,12 @@ + + + + + + @@ -79192,6 +102944,12 @@ + + + + + + @@ -79250,6 +103008,12 @@ + + + + + + @@ -79269,6 +103033,12 @@ + + + + + + @@ -79388,6 +103158,12 @@ + + + + + + @@ -79468,6 +103244,12 @@ + + + + + + @@ -79517,6 +103299,12 @@ + + + + + + @@ -79537,6 +103325,12 @@ + + + + + + @@ -79572,6 +103366,12 @@ + + + + + + @@ -79594,6 +103394,12 @@ + + + + + + @@ -79632,6 +103438,12 @@ + + + + + + @@ -79651,6 +103463,12 @@ + + + + + + @@ -79669,6 +103487,12 @@ + + + + + + @@ -79747,6 +103571,12 @@ + + + + + + @@ -79831,6 +103661,12 @@ + + + + + + @@ -79998,6 +103834,12 @@ + + + + + + @@ -80104,6 +103946,12 @@ + + + + + + @@ -80127,6 +103975,12 @@ + + + + + + @@ -80148,6 +104002,12 @@ + + + + + + @@ -80167,6 +104027,12 @@ + + + + + + @@ -80203,6 +104069,12 @@ + + + + + + @@ -80232,6 +104104,12 @@ + + + + + + @@ -80250,6 +104128,12 @@ + + + + + + @@ -80301,6 +104185,12 @@ + + + + + + @@ -80462,6 +104352,12 @@ + + + + + + @@ -80518,6 +104414,12 @@ + + + + + + @@ -80597,6 +104499,12 @@ + + + + + + @@ -80661,6 +104569,12 @@ + + + + + + @@ -80693,6 +104607,12 @@ + + + + + + @@ -80796,6 +104716,12 @@ + + + + + + @@ -80818,6 +104744,12 @@ + + + + + + @@ -80839,6 +104771,12 @@ + + + + + + @@ -80881,12 +104819,19 @@ + + + + + + + HSNSP neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive @@ -80897,6 +104842,12 @@ + + + + + + @@ -81033,6 +104984,12 @@ + + + + + + @@ -81177,6 +105134,12 @@ + + + + + + @@ -81268,6 +105231,12 @@ + + + + + + @@ -81308,6 +105277,12 @@ + + + + + + @@ -81376,6 +105351,12 @@ + + + + + + @@ -81522,6 +105503,12 @@ + + + + + + @@ -81545,6 +105532,12 @@ + + + + + + @@ -81578,6 +105571,12 @@ + + + + + + @@ -81675,6 +105674,12 @@ + + + + + + @@ -81724,6 +105729,12 @@ + + + + + + @@ -81775,6 +105786,12 @@ + + + + + + @@ -81802,6 +105819,12 @@ + + + + + + @@ -81822,6 +105845,12 @@ + + + + + + @@ -81841,6 +105870,12 @@ + + + + + + @@ -81859,6 +105894,12 @@ + + + + + + @@ -81901,6 +105942,12 @@ + + + + + + @@ -81929,6 +105976,12 @@ + + + + + + @@ -81952,6 +106005,12 @@ + + + + + + @@ -81972,6 +106031,12 @@ + + + + + + @@ -82028,6 +106093,12 @@ + + + + + + @@ -82047,6 +106118,12 @@ + + + + + + @@ -82173,6 +106250,12 @@ + + + + + + @@ -82204,6 +106287,12 @@ + + + + + + @@ -82229,6 +106318,12 @@ + + + + + + @@ -82246,6 +106341,12 @@ + + + + + + @@ -82325,6 +106426,12 @@ + + + + + + @@ -82367,6 +106474,12 @@ + + + + + + @@ -82408,6 +106521,12 @@ + + + + + + @@ -82426,6 +106545,18 @@ + + + + + + + + + + + + @@ -82499,6 +106630,12 @@ + + + + + + @@ -82520,6 +106657,12 @@ + + + + + + @@ -82564,6 +106707,12 @@ + + + + + + @@ -82584,6 +106733,12 @@ + + + + + + @@ -82615,6 +106770,12 @@ + + + + + + @@ -82663,6 +106824,12 @@ + + + + + + @@ -82713,6 +106880,12 @@ + + + + + + @@ -82774,6 +106947,12 @@ + + + + + + @@ -82806,6 +106985,12 @@ + + + + + + @@ -82851,6 +107036,12 @@ + + + + + + @@ -82879,6 +107070,12 @@ + + + + + + @@ -82933,6 +107130,12 @@ + + + + + + @@ -83133,6 +107336,12 @@ + + + + + + @@ -83152,6 +107361,12 @@ + + + + + + @@ -83169,6 +107384,12 @@ + + + + + + @@ -83216,6 +107437,12 @@ + + + + + + @@ -83333,6 +107560,12 @@ + + + + + + @@ -83428,6 +107661,12 @@ + + + + + + @@ -83448,6 +107687,12 @@ + + + + + + @@ -83535,6 +107780,12 @@ + + + + + + @@ -83555,6 +107806,12 @@ + + + + + + @@ -83572,6 +107829,12 @@ + + + + + + @@ -83630,6 +107893,12 @@ + + + + + + @@ -83648,6 +107917,12 @@ + + + + + + @@ -83705,6 +107980,12 @@ + + + + + + @@ -83741,6 +108022,12 @@ + + + + + + @@ -83767,6 +108054,12 @@ + + + + + + @@ -83787,6 +108080,12 @@ + + + + + + @@ -83829,6 +108128,12 @@ + + + + + + @@ -83878,6 +108183,12 @@ + + + + + + @@ -83951,6 +108262,12 @@ + + + + + + @@ -84047,6 +108364,12 @@ + + + + + + @@ -84090,6 +108413,12 @@ + + + + + + @@ -84152,6 +108481,12 @@ + + + + + + @@ -84385,6 +108720,12 @@ + + + + + + @@ -84414,6 +108755,12 @@ + + + + + + @@ -84466,6 +108813,12 @@ + + + + + + @@ -84570,6 +108923,12 @@ + + + + + + @@ -84602,6 +108961,12 @@ + + + + + + @@ -84650,6 +109015,12 @@ + + + + + + @@ -84681,6 +109052,12 @@ + + + + + + @@ -84709,6 +109086,12 @@ + + + + + + @@ -84899,6 +109282,12 @@ + + + + + + @@ -84926,6 +109315,12 @@ + + + + + + @@ -84999,6 +109394,12 @@ + + + + + + @@ -85021,6 +109422,12 @@ + + + + + + @@ -85049,6 +109456,12 @@ + + + + + + @@ -85091,6 +109504,12 @@ + + + + + + @@ -85145,6 +109564,12 @@ + + + + + + @@ -85423,6 +109848,12 @@ + + + + + + @@ -85451,6 +109882,12 @@ + + + + + + @@ -85582,6 +110019,12 @@ + + + + + + @@ -85605,6 +110048,12 @@ + + + + + + @@ -85643,6 +110092,12 @@ + + + + + + @@ -85703,6 +110158,12 @@ + + + + + + @@ -85721,6 +110182,12 @@ + + + + + + @@ -85765,6 +110232,12 @@ + + + + + + @@ -85784,6 +110257,12 @@ + + + + + + @@ -85888,6 +110367,12 @@ + + + + + + @@ -86037,6 +110522,12 @@ + + + + + + @@ -86112,6 +110603,12 @@ + + + + + + @@ -86164,6 +110661,12 @@ + + + + + + @@ -86181,6 +110684,12 @@ + + + + + + @@ -86199,6 +110708,12 @@ + + + + + + @@ -86242,6 +110757,7 @@ thromboxane a synthase 1 thromboxane a synthase, platelet TBXAS1 + @@ -86352,6 +110868,12 @@ + + + + + + @@ -86372,6 +110894,12 @@ + + + + + + @@ -86422,6 +110950,12 @@ + + + + + + @@ -86443,6 +110977,12 @@ + + + + + + @@ -86482,6 +111022,12 @@ + + + + + + @@ -86609,6 +111155,12 @@ + + + + + + @@ -86627,6 +111179,18 @@ + + + + + + + + + + + + @@ -86665,6 +111229,7 @@ alpha,alpha-trehalose-1-d-glucohydrolase trehalase TREH + @@ -86739,6 +111304,12 @@ + + + + + + @@ -86771,6 +111342,12 @@ + + + + + + @@ -86809,6 +111386,7 @@ trypsinogen, cationic This term has one or more labels that end with ', INCLUDED'. PRSS1 + @@ -86882,6 +111460,12 @@ + + + + + + @@ -86906,6 +111490,12 @@ + + + + + + @@ -86988,6 +111578,12 @@ + + + + + + @@ -87202,6 +111798,12 @@ + + + + + + @@ -87244,6 +111846,12 @@ + + + + + + @@ -87267,6 +111875,18 @@ + + + + + + + + + + + + @@ -87320,6 +111940,12 @@ + + + + + + @@ -87362,6 +111988,12 @@ + + + + + + @@ -87431,6 +112063,12 @@ + + + + + + @@ -87449,6 +112087,12 @@ + + + + + + @@ -87477,6 +112121,12 @@ + + + + + + @@ -87522,6 +112172,12 @@ + + + + + + @@ -87540,6 +112196,12 @@ + + + + + + @@ -87643,6 +112305,12 @@ + + + + + + @@ -87680,6 +112348,12 @@ + + + + + + @@ -87698,6 +112372,12 @@ + + + + + + @@ -87731,6 +112411,12 @@ + + + + + + @@ -87749,6 +112435,12 @@ + + + + + + @@ -87851,6 +112543,12 @@ + + + + + + @@ -87871,6 +112569,12 @@ + + + + + + @@ -88099,6 +112803,7 @@ atpase, ca(2+)-transporting, plasma membrane, 3 plasma membrane ca(2+)-atpase, type 3 ATP2B3 + @@ -88210,6 +112915,7 @@ host cell factor c1 vp16 accessory protein HCFC1 + @@ -88323,6 +113029,7 @@ ephrin b1 ligand of eph-related kinase 2 EFNB1 + @@ -88346,6 +113053,7 @@ creatine transporter solute carrier family 6 (neurotransmitter transporter, creatine), member 8 SLC6A8 + @@ -88398,6 +113106,7 @@ brain-4 pou domain, class 3, transcription factor 4 POU3F4 + @@ -88576,6 +113285,7 @@ HCCS holocytochrome c synthase HCCS + @@ -88616,6 +113326,7 @@ itba2 gene l antigen family, member 3 LAGE3 + @@ -88640,6 +113351,7 @@ zinc finger protein 261 zinc finger, mym-type 3 ZMYM3 + @@ -88896,6 +113608,7 @@ nadh-ubiquinone oxidoreductase 1 alpha subcomplex 1 nadh-ubiquinone oxidoreductase subunit a1 NDUFA1 + @@ -88922,6 +113635,7 @@ inhibitor of apoptosis, X-linked mammalian iap homolog a XIAP + @@ -88946,6 +113660,7 @@ rna-binding motif protein 10 rna-binding protein s1-1, rat, homolog of RBM10 + @@ -88990,6 +113705,7 @@ p54nrb This term has one or more labels that end with ', INCLUDED'. NONO + @@ -89021,6 +113737,12 @@ + + + + + + @@ -89038,6 +113760,12 @@ + + + + + + @@ -89073,6 +113801,7 @@ signal sequence receptor, delta translocon-associated protein, delta subunit SSR4 + @@ -89106,6 +113835,7 @@ monocarboxylate transporter 8 solute carrier family 16 (monocarboxylic acid transporter), member 2 SLC16A2 + @@ -89131,6 +113861,7 @@ transmembrane 4 superfamily, member 2 transmembrane protein a15 TSPAN7 + @@ -89181,6 +113912,7 @@ rab gdp-dissociation inhibitor, alpha rhogdi GDI1 + @@ -89203,6 +113935,7 @@ SMS spermine synthase SMS + @@ -89239,6 +113972,7 @@ diaphanous, drosophila, homolog of, 2 diaphanous-related formin 2 DIAPH2 + @@ -89298,6 +114032,7 @@ prickle, drosophila, homolog of, 3 prickle-like 3 PRICKLE3 + @@ -89316,6 +114051,12 @@ + + + + + + @@ -89363,6 +114104,7 @@ f18 gene mastermind-like domain-containing protein 1 MAMLD1 + @@ -89478,6 +114220,7 @@ oligophrenin 1 opn1 OPHN1 + @@ -89502,6 +114245,7 @@ lysine-specific demethylase 6a ubiquitously transcribed tetratricopeptide repeat gene on 10 chromosome KDM6A + @@ -89565,6 +114309,7 @@ atp-binding cassette transporter 7 atp-binding cassette, subfamily b, member 7 ABCB7 + @@ -89607,6 +114352,7 @@ immunoglobulin-like domain-containing 1 inhibin-binding protein IGSF1 + @@ -89631,6 +114377,7 @@ immunoglobulin-binding protein 1 protein phosphatase 2a, regulatory subunit alpha-4 IGBP1 + @@ -89671,6 +114418,7 @@ p21 cdc42/rac1-activated kinase 3 p21 protein-activated kinase 3 PAK3 + @@ -89679,6 +114427,12 @@ + + + + + + @@ -89714,6 +114468,7 @@ x-prolyl aminopeptidase 2 x-prolyl aminopeptidase, membrane-bound XPNPEP2 + @@ -89739,6 +114494,12 @@ + + + + + + @@ -89793,6 +114554,7 @@ acyl-coa synthetase long chain family, member 4 fatty acid coa ligase, long chain 4 ACSL4 + @@ -89829,6 +114591,7 @@ dead-box helicase 3, X-linked dead/h-box 3, X-linked DDX3X + @@ -89852,6 +114615,7 @@ eukaryotic translation initiation factor 2, gamma eukaryotic translation initiation factor 2, subunit 3 EIF2S3 + @@ -89913,6 +114677,12 @@ + + + + + + @@ -89949,6 +114719,7 @@ GPC4 glypican 4 GPC4 + @@ -90102,6 +114873,7 @@ arylsulfatase 50 arylsulfatase e ARSL + @@ -90190,6 +114962,7 @@ neuroendocrine dlg synapse-associated protein 102 DLG3 + @@ -90215,6 +114988,7 @@ sarcoma, synovial, x-chromosome-related 2 This term has one or more labels that end with ', INCLUDED'. SSX2 + @@ -90241,6 +115015,7 @@ hmg2a nonhistone chromosomal protein hmg4 HMGB3 + @@ -90282,6 +115057,7 @@ amme chromosome region gene 1 ammecr nuclear protein 1 AMMECR1 + @@ -90306,6 +115082,7 @@ transducin-beta-like 1 transducin-beta-like 1, X-linked TBL1X + @@ -90332,6 +115109,7 @@ atpase, h+ transporting, lysosomal, accessory protein 1 vacuolar atpase subunit 1 ATP6AP1 + @@ -90402,6 +115180,7 @@ sedlin tracking protein particle complex, subunit 2 TRAPPC2 + @@ -90425,6 +115204,7 @@ cyclin-dependent kinase-like 5 serine/threonine protein kinase 9 CDKL5 + @@ -90448,6 +115228,7 @@ midin 2 midline 2 MID2 + @@ -90502,6 +115283,7 @@ interleukin 1 receptor accessory protein-like 1 This term has one or more labels that end with ', INCLUDED'. IL1RAPL1 + @@ -90520,6 +115302,12 @@ + + + + + + @@ -90692,6 +115480,7 @@ sodium/hydrogen exchanger 6 solute carrier family 9, member 6 SLC9A6 + @@ -90738,6 +115527,7 @@ tcea-like 1 transcription elongation factor a-like 1 TCEAL1 + @@ -90770,6 +115560,12 @@ + + + + + + @@ -90921,6 +115717,7 @@ o-linked n-acetylglucosamine transferase udp-n-acetylglucosamine:polypeptide beta-n-acetylglucosaminyl transferase OGT + @@ -90951,6 +115748,7 @@ hydroxyacyl-coa dehydrogenase 2 mitochondrial ribonuclease p protein 2 HSD17B10 + @@ -90958,6 +115756,12 @@ + + + + + + @@ -91019,6 +115823,12 @@ + + + + + + @@ -91056,6 +115866,12 @@ + + + + + + @@ -91092,6 +115908,7 @@ plic2, mouse, homolog of ubiquilin 2 UBQLN2 + @@ -91170,6 +115987,7 @@ HDAC8 histone deacetylase 8 HDAC8 + @@ -91214,6 +116032,7 @@ histone deacetylase 6 kiaa0901 HDAC6 + @@ -91290,6 +116109,7 @@ NYX nyctalopin NYX + @@ -91359,6 +116179,7 @@ jm2 scurfin FOXP3 + @@ -91434,6 +116255,7 @@ upf3b regulator of nonsense-mediated mrna decay upf3x UPF3B + @@ -91508,6 +116330,7 @@ cullin 4b kiaa0695 CUL4B + @@ -91576,6 +116399,7 @@ USP26 ubiquitin-specific protease 26 USP26 + @@ -91585,6 +116409,12 @@ + + + + + + @@ -91618,6 +116448,7 @@ TEX11 testis-expressed gene 11 TEX11 + @@ -91710,6 +116541,7 @@ NLGN3 neuroligin 3 NLGN3 + @@ -91784,6 +116616,12 @@ + + + + + + @@ -91805,6 +116643,12 @@ + + + + + + @@ -91863,6 +116707,7 @@ translocase of inner mitochondrial membrane 8, yeast, homolog of, a translocase of inner mitochondrial membrane 8a TIMM8A + @@ -91887,6 +116732,7 @@ prkwnk3 protein kinase, lysine-deficient 3 WNK3 + @@ -91946,6 +116792,7 @@ TLR8 toll-like receptor 8 TLR8 + @@ -91979,6 +116826,7 @@ sodium/hydrogen exchanger 7 solute carrier family 9, member 7 SLC9A7 + @@ -92002,6 +116850,7 @@ acidic repeat-containing gene germ cell nuclear acidic peptidase GCNA + @@ -92050,6 +116899,12 @@ + + + + + + @@ -92083,6 +116938,7 @@ cbl-interacting protein, 85-kd sh3-domain kinase-binding protein 1 SH3KBP1 + @@ -92171,6 +117027,7 @@ ring finger protein, 51m domain-interacting ring zinc finger protein ny-ren-43 antigen RLIM + @@ -92242,6 +117099,7 @@ properdin properdin p factor, complement CFP + @@ -92265,6 +117123,7 @@ emerin sta EMD + @@ -92292,6 +117151,7 @@ tnf-related activation protein tumor necrosis factor ligand superfamily, member 5 CD40LG + @@ -92300,6 +117160,12 @@ + + + + + + @@ -92366,6 +117232,7 @@ rab geranylgeranyltransferase, component a rab gg transferase CHM + @@ -92391,6 +117258,7 @@ amg amgl AMELX + @@ -92450,6 +117318,7 @@ g protein-coupled receptor 101 gpcr101 GPR101 + @@ -92474,6 +117343,7 @@ tafazzin, phospholipid-lysophospholipid transacylase taz TAFAZZIN + @@ -92497,6 +117367,7 @@ tho complex, subunit 2 tho2, yeast, homolog of THOC2 + @@ -92530,6 +117401,7 @@ bap31 dxs1357e BCAP31 + @@ -92665,6 +117537,7 @@ PHF6 phd finger protein 6 PHF6 + @@ -92756,6 +117629,12 @@ + + + + + + @@ -92845,6 +117724,7 @@ pem2 rho guanine nucleotide exchange factor 9 ARHGEF9 + @@ -92935,6 +117815,12 @@ + + + + + + @@ -92978,6 +117864,7 @@ sh3 protein expressed 1n lymphocytes sterile alpha motif- and sh3 domain-containing protein 3 SASH3 + @@ -93069,6 +117956,7 @@ hxc26 xap5 gene FAM50A + @@ -93158,6 +118046,7 @@ kiaa1313 protocadherin 19 PCDH19 + @@ -93181,6 +118070,7 @@ ornithine carbamoyltransferase ornithine transcarbamylase OTC + @@ -93204,6 +118094,7 @@ nuclear protein containing a ww domain, 38-kd polyglutamine-binding protein 1 PQBP1 + @@ -93252,6 +118143,7 @@ maged melanoma antigen, family d, 2 MAGED2 + @@ -93275,6 +118167,12 @@ + + + + + + @@ -93337,6 +118235,7 @@ atp:glycerol phosphotransferase glycerol kinase GK + @@ -93344,6 +118243,12 @@ + + + + + + @@ -93452,6 +118357,7 @@ kiaa1575 This term has one or more labels that end with ', INCLUDED'. BCOR + @@ -93460,6 +118366,12 @@ + + + + + + @@ -93525,6 +118437,7 @@ signaling lymphocyte activation molecule-associated protein slam-associated protein SH2D1A + @@ -93624,6 +118537,7 @@ jm23 spb1, s. cerevisiae, homolog of FTSJ1 + @@ -93670,6 +118584,7 @@ pyruvate dehydrogenase e1, subunit alpha-1 pyruvate dehydrogenase, alpha-1 PDHA1 + @@ -93746,6 +118661,12 @@ + + + + + + @@ -93763,6 +118684,12 @@ + + + + + + @@ -93799,6 +118726,7 @@ fanconi anemia-associated polypeptide, 95-kd flj34064 FANCB + @@ -93823,6 +118751,7 @@ atpase 1q atpase, class vi, type 11c ATP11C + @@ -93882,6 +118811,7 @@ CLDN2 claudin 2 CLDN2 + @@ -93934,6 +118864,7 @@ iq motif- and sec7 domain-containing protein 2 kiaa0522 IQSEC2 + @@ -93941,6 +118872,12 @@ + + + + + + @@ -93979,6 +118916,7 @@ kiaa2022 neurite extension and migration factor NEXMIF + @@ -94002,6 +118940,7 @@ wd repeat-containing protein 45 wd40 repeat protein interacting with phosphoinositides 4 WDR45 + @@ -94019,6 +118958,12 @@ + + + + + + @@ -94147,6 +119092,7 @@ HS6ST2 heparan sulfate 6-o-sulfotransferase 2 HS6ST2 + @@ -94193,6 +119139,7 @@ phosphate-regulating endopeptidase homolog, X-linked phosphate-regulating endopeptidase, X-linked PHEX + @@ -94227,6 +119174,7 @@ midline 1 midline 1 ring finger gene MID1 + @@ -94249,6 +119197,7 @@ BRWD3 bromodomain- and wd repeat-containing protein 3 BRWD3 + @@ -94334,6 +119283,12 @@ + + + + + + @@ -94353,6 +119308,12 @@ + + + + + + @@ -94389,6 +119350,7 @@ phd finger protein 8 zinc finger protein 422 PHF8 + @@ -94415,6 +119377,7 @@ slit- and ntrk-like family, member 2 transmembrane protein 257 SLITRK2 + @@ -94467,6 +119430,7 @@ g protein-coupled receptor, epididymis-specific human epididymis-specific protein 6 ADGRG2 + @@ -94576,6 +119540,7 @@ malignant t-cell amplified sequence 1 mct1 MCTS1 + @@ -94667,6 +119632,7 @@ pof1b actin-binding protein pof1b gene POF1B + @@ -94675,6 +119641,12 @@ + + + + + + @@ -94718,6 +119690,12 @@ + + + + + + @@ -94754,6 +119732,7 @@ male-specific lethal 3-like 1 msl complex subunit 3 MSL3 + @@ -94778,6 +119757,7 @@ heterogeneous nuclear ribonucleoprotein h2 hnrph2 HNRNPH2 + @@ -94954,6 +119934,7 @@ clathrin adaptor complex ap1, sigma-1b subunit clathrin-associated/assembly/adaptor protein, small 1-like AP1S2 + @@ -94982,6 +119963,12 @@ + + + + + + @@ -95045,6 +120032,7 @@ sushi repeat protein upregulated 1n leukemia sushi repeat-containing protein, x-linked, 2 SRPX2 + @@ -95052,6 +120040,12 @@ + + + + + + @@ -95121,6 +120115,7 @@ dhhc domain-containing protein 9 zinc finger dhhc domain-containing protein 9 ZDHHC9 + @@ -95145,6 +120140,7 @@ family with sequence similarity 123, member B wtx AMER1 + @@ -95187,6 +120183,7 @@ porcupine o-acyltransferase porcupine, drosophila, homolog of PORCN + @@ -95209,6 +120206,12 @@ + + + + + + @@ -95256,6 +120259,12 @@ + + + + + + @@ -95304,6 +120313,12 @@ + + + + + + @@ -95332,6 +120347,12 @@ + + + + + + @@ -95382,6 +120403,7 @@ dedicator of cytokinesis 11 zizimin 2 DOCK11 + @@ -95404,6 +120426,7 @@ BCORL1 bcl6 corepressor-like 1 BCORL1 + @@ -95454,6 +120477,7 @@ upstream regulatory element-binding protein 1 ure-binding protein 1 HUWE1 + @@ -95463,6 +120487,12 @@ + + + + + + @@ -95557,6 +120587,12 @@ + + + + + + @@ -95591,6 +120627,7 @@ cyclin q family with sequence similarity 58, member a CCNQ + @@ -95681,6 +120718,7 @@ duba otu domain-containing protein 5 OTUD5 + @@ -95788,6 +120826,7 @@ connector enhancer of ksr 2 kiaa0902 CNKSR2 + @@ -95874,6 +120913,7 @@ steroid sulfatase This term has one or more labels that end with ', INCLUDED'. STS + @@ -95990,6 +121030,7 @@ rp2 activator of arl3 gtpase rp2 gene RP2 + @@ -95998,6 +121039,12 @@ + + + + + + @@ -96029,6 +121076,7 @@ NKAP nfkb-activating protein NKAP + @@ -96051,6 +121099,7 @@ CYLC1 cylicin 1 CYLC1 + @@ -96059,6 +121108,12 @@ + + + + + + @@ -96124,6 +121179,7 @@ e74-like factor 4 myeloid elf1-like factor ELF4 + @@ -96149,6 +121205,7 @@ asparagine-linked glycosylation 13, s. cerevisiae, homolog of glycosyltransferase 28 domain-containing 1 ALG13 + @@ -96173,6 +121230,7 @@ epsilon-trimethyllysine hydroxylase tmlh TMLHE + @@ -96229,6 +121287,12 @@ + + + + + + @@ -96271,6 +121335,12 @@ + + + + + + @@ -96289,6 +121359,12 @@ + + + + + + @@ -96338,6 +121414,7 @@ fmr2 gene This term has one or more labels that end with ', INCLUDED'. AFF2 + @@ -96403,6 +121480,12 @@ + + + + + + @@ -96540,6 +121623,7 @@ IDS iduronate 2-sulfatase IDS + @@ -96591,6 +121675,7 @@ FGF16 fibroblast growth factor 16 FGF16 + @@ -96613,6 +121698,7 @@ PTCHD1 patched domain-containing protein 1 PTCHD1 + @@ -96630,6 +121716,12 @@ + + + + + + @@ -96715,6 +121807,7 @@ kal1 gene kallmann syndrome interval gene 1 ANOS1 + @@ -96739,6 +121832,7 @@ kiaa0316 psd95-interacting regulator of spine morphogenesis FRMPD4 + @@ -96761,6 +121855,7 @@ RS1 retinoschisin RS1 + @@ -96798,6 +121893,12 @@ + + + + + + @@ -96894,6 +121995,12 @@ + + + + + + @@ -96913,6 +122020,12 @@ + + + + + + @@ -97015,6 +122128,12 @@ + + + + + + @@ -97065,6 +122184,7 @@ CCDC22 coiled-coil domain-containing protein 22 CCDC22 + @@ -97073,6 +122193,12 @@ + + + + + + @@ -97110,6 +122236,12 @@ + + + + + + @@ -97141,6 +122273,12 @@ + + + + + + @@ -97205,6 +122343,12 @@ + + + + + + @@ -97232,6 +122376,12 @@ + + + + + + @@ -97250,6 +122400,12 @@ + + + + + + @@ -97285,6 +122441,7 @@ cytochrome c oxidase, subunit 7b cytochrome c oxidase, subunit viib COX7B + @@ -97311,6 +122468,12 @@ + + + + + + @@ -97328,6 +122491,12 @@ + + + + + + @@ -97345,6 +122514,12 @@ + + + + + + @@ -97376,6 +122551,12 @@ + + + + + + @@ -97449,6 +122630,7 @@ IRS4 insulin receptor substrate 4 IRS4 + @@ -97457,6 +122639,12 @@ + + + + + + @@ -97489,6 +122677,7 @@ PDK3 pyruvate dehydrogenase kinase, isoenzyme 3 PDK3 + @@ -97512,6 +122701,7 @@ cleavage stimulation factor, 3-prime pre-rna, subunit 2, 64-kd cstf64 CSTF2 + @@ -97529,6 +122719,12 @@ + + + + + + @@ -97567,6 +122763,12 @@ + + + + + + @@ -97600,6 +122802,7 @@ vacuolar atpase assembly factor vma21 vma21, s. cerevisiae, homolog of VMA21 + @@ -97608,6 +122811,12 @@ + + + + + + @@ -97625,6 +122834,12 @@ + + + + + + @@ -97680,6 +122895,12 @@ + + + + + + @@ -97697,6 +122918,12 @@ + + + + + + @@ -97728,6 +122955,7 @@ PIH1D3 pih1 domain-containing protein 3 PIH1D3 + @@ -97736,6 +122964,12 @@ + + + + + + @@ -97771,6 +123005,12 @@ + + + + + + @@ -97806,6 +123046,7 @@ tsr2, 20s rrna accumulation, s. cerevisiae, homolog of wgg motif-containing protein 1 TSR2 + @@ -97814,6 +123055,12 @@ + + + + + + @@ -97846,6 +123093,7 @@ ring finger protein 113a zinc finger protein 183 RNF113A + @@ -97866,6 +123114,12 @@ + + + + + + @@ -97883,6 +123137,12 @@ + + + + + + @@ -97902,6 +123162,12 @@ + + + + + + @@ -97931,6 +123197,12 @@ + + + + + + @@ -97963,6 +123235,7 @@ las1, s. cerevisiae, homolog of las1-like ribosome biogenesis factor LAS1L + @@ -97983,6 +123256,12 @@ + + + + + + @@ -98029,6 +123308,7 @@ g protein-coupled receptor-associated sorting protein 2 gasp2 GPRASP2 + @@ -98037,6 +123317,12 @@ + + + + + + @@ -98055,6 +123341,12 @@ + + + + + + @@ -98091,6 +123383,7 @@ usp22-like usp27 USP27X + @@ -98111,6 +123404,12 @@ + + + + + + @@ -98162,6 +123461,7 @@ kelch-like 15 kiaa1677 KLHL15 + @@ -98170,6 +123470,12 @@ + + + + + + @@ -98188,6 +123494,12 @@ + + + + + + @@ -98206,6 +123518,12 @@ + + + + + + @@ -98224,6 +123542,12 @@ + + + + + + @@ -98241,6 +123565,12 @@ + + + + + + @@ -98268,6 +123598,12 @@ + + + + + + @@ -98295,6 +123631,12 @@ + + + + + + @@ -98312,6 +123654,12 @@ + + + + + + @@ -98330,6 +123678,12 @@ + + + + + + @@ -98375,6 +123729,12 @@ + + + + + + @@ -98392,6 +123752,12 @@ + + + + + + @@ -98410,6 +123776,12 @@ + + + + + + @@ -98442,6 +123814,7 @@ chromosome 10 open reading frame 56 sting1 er exit protein 1 STEEP1 + @@ -98450,6 +123823,12 @@ + + + + + + @@ -98478,6 +123857,12 @@ + + + + + + @@ -98495,6 +123880,12 @@ + + + + + + @@ -98512,6 +123903,12 @@ + + + + + + @@ -98551,6 +123948,12 @@ + + + + + + @@ -98569,6 +123972,12 @@ + + + + + + @@ -98586,6 +123995,12 @@ + + + + + + @@ -98618,6 +124033,7 @@ TBC1D8B tbc1 domain family, member 8b TBC1D8B + @@ -98626,6 +124042,12 @@ + + + + + + @@ -98642,6 +124064,12 @@ + + + + + + @@ -98682,6 +124110,12 @@ + + + + + + @@ -98702,6 +124136,12 @@ + + + + + + @@ -98719,6 +124159,12 @@ + + + + + + @@ -98736,6 +124182,12 @@ + + + + + + @@ -98814,6 +124266,12 @@ + + + + + + @@ -98865,6 +124323,12 @@ + + + + + + @@ -98898,6 +124362,7 @@ chromosome 10 open reading frame 22 cilia- and flagella-associated protein 47 CFAP47 + @@ -98917,6 +124382,12 @@ + + + + + + @@ -98933,6 +124404,12 @@ + + + + + + @@ -99006,6 +124483,12 @@ + + + + + + @@ -99035,6 +124518,12 @@ + + + + + + @@ -99052,6 +124541,12 @@ + + + + + + @@ -99069,6 +124564,12 @@ + + + + + + @@ -99107,6 +124608,12 @@ + + + + + + @@ -99144,6 +124651,12 @@ + + + + + + @@ -99160,6 +124673,12 @@ + + + + + + @@ -99189,6 +124708,12 @@ + + + + + + @@ -99215,6 +124740,12 @@ + + + + + + @@ -99247,6 +124778,7 @@ bjhcc20 cancer/testis antigen 55 CT55 + @@ -99255,6 +124787,12 @@ + + + + + + @@ -99272,6 +124810,12 @@ + + + + + + @@ -99299,6 +124843,12 @@ + + + + + + @@ -99328,6 +124878,12 @@ + + + + + + @@ -99359,6 +124915,7 @@ SPIN4 spindlin family, member 4 SPIN4 + @@ -99366,6 +124923,12 @@ + + + + + + @@ -99383,6 +124946,12 @@ + + + + + + @@ -99401,6 +124970,12 @@ + + + + + + @@ -99418,6 +124993,12 @@ + + + + + + @@ -99435,6 +125016,12 @@ + + + + + + @@ -99462,6 +125049,12 @@ + + + + + + @@ -99541,6 +125134,12 @@ + + + + + + @@ -99622,6 +125221,7 @@ cone arrestin x-arrestin ARR3 + @@ -99783,6 +125383,12 @@ + + + + + + @@ -99855,6 +125461,12 @@ + + + + + + @@ -99928,6 +125540,12 @@ + + + + + + @@ -99967,6 +125585,12 @@ + + + + + + @@ -100070,6 +125694,7 @@ chloride channel 4 chloride channel, voltage-gated, 4 CLCN4 + @@ -100095,6 +125720,12 @@ + + + + + + @@ -100127,6 +125758,12 @@ + + + + + + @@ -100215,6 +125852,7 @@ collagen of basement membrane, alpha-5 chain collagen, type iv, alpha-5 COL4A5 + @@ -100238,6 +125876,7 @@ collagen of basement membrane, alpha-6 collagen, type iv, alpha-6 COL4A6 + @@ -100347,6 +125986,7 @@ gap junction protein, beta-1 liver connexin GJB1 + @@ -100380,6 +126020,12 @@ + + + + + + @@ -100446,6 +126092,12 @@ + + + + + + @@ -100478,6 +126130,12 @@ + + + + + + @@ -100530,6 +126188,12 @@ + + + + + + @@ -100576,6 +126240,12 @@ + + + + + + @@ -100713,6 +126383,7 @@ + EVX edvx epidermodysplasia verruciformis, X-linked @@ -100857,6 +126528,12 @@ + + + + + + @@ -100923,6 +126600,7 @@ gaba-a receptor, alpha-3 polypeptide gamma-aminobutyric acid receptor, alpha-3 GABRA3 + @@ -101017,6 +126695,7 @@ glutamate receptor 3 glutamate receptor, ionotropic, ampa 3 GRIA3 + @@ -101057,6 +126736,7 @@ GLRA2 glycine receptor, alpha-2 subunit GLRA2 + @@ -101116,6 +126796,7 @@ colony-stimulating factor 2 receptor, alpha granulocyte-macrophage colony-stimulating factor receptor, low affinity, alpha subunit CSF2RA + @@ -101322,6 +127003,12 @@ + + + + + + @@ -101422,6 +127109,12 @@ + + + + + + @@ -101502,6 +127195,12 @@ + + + + + + @@ -101570,6 +127269,12 @@ + + + + + + @@ -101592,6 +127297,12 @@ + + + + + + @@ -101754,6 +127465,12 @@ + + + + + + @@ -101852,6 +127569,12 @@ + + + + + + @@ -101970,6 +127693,7 @@ lysosome-associated membrane protein 2 lysosome-associated membrane protein B LAMP2 + @@ -101987,6 +127711,12 @@ + + + + + + @@ -102099,6 +127829,12 @@ + + + + + + @@ -102152,6 +127888,12 @@ + + + + + + @@ -102183,6 +127925,12 @@ + + + + + + @@ -102222,6 +127970,12 @@ + + + + + + @@ -102242,6 +127996,12 @@ + + + + + + @@ -102340,6 +128100,12 @@ + + + + + + @@ -102359,6 +128125,12 @@ + + + + + + @@ -102380,6 +128152,12 @@ + + + + + + @@ -102421,6 +128199,12 @@ + + + + + + @@ -102458,6 +128242,12 @@ + + + + + + @@ -102528,6 +128318,12 @@ + + + + + + @@ -102574,6 +128370,7 @@ membrane-organizing extension spike protein moesin MSN + @@ -102605,6 +128402,12 @@ + + + + + + @@ -102677,6 +128480,12 @@ + + + + + + @@ -102737,6 +128546,12 @@ + + + + + + @@ -102828,6 +128643,12 @@ + + + + + + @@ -103018,6 +128839,12 @@ + + + + + + @@ -103204,6 +129031,7 @@ phosphoglycerate kinase 1 This term has one or more labels that end with ', INCLUDED'. PGK1 + @@ -103275,6 +129103,7 @@ PHKA1 phosphorylase kinase, muscle, alpha-1 subunit PHKA1 + @@ -103291,6 +129120,12 @@ + + + + + + @@ -103360,6 +129195,12 @@ + + + + + + @@ -103414,6 +129255,12 @@ + + + + + + @@ -103485,6 +129332,7 @@ ubiquitin-conjugating enzyme e2 a ubiquitin-conjugating enzyme e2a UBE2A + @@ -103591,6 +129439,12 @@ + + + + + + @@ -103665,6 +129519,12 @@ + + + + + + @@ -103738,6 +129598,7 @@ ssrc This term has one or more labels that end with ', INCLUDED'. SSX1 + @@ -103939,6 +129800,12 @@ + + + + + + @@ -104062,6 +129929,7 @@ SYP synaptophysin SYP + @@ -104289,6 +130157,7 @@ tbg, serum thyroxine-binding globulin of serum TBG + @@ -104453,6 +130322,7 @@ udp-galactose translocator This term has one or more labels that end with ', INCLUDED'. SLC35A2 + @@ -104584,6 +130454,7 @@ x inactivation-specific transcript This term has one or more labels that end with ', INCLUDED'. XIST + @@ -104611,6 +130482,7 @@ selected cdna on x, mouse, homolog of xe169 KDM5C + @@ -104686,6 +130558,7 @@ precursor substance, kell blood group xk locus XK + @@ -104747,6 +130620,7 @@ ZFX zinc finger protein, X-linked ZFX + @@ -104771,6 +130645,7 @@ zinc finger protein 6 zinc finger protein 711 ZNF711 + @@ -104847,6 +130722,7 @@ drosophila fat facets-related, Y-linked ubiquitin-specific protease 9, y chromosome USP9Y + @@ -104938,6 +130814,7 @@ TBL1Y transducin-beta-like 1, Y-linked TBL1Y + @@ -105021,6 +130898,12 @@ + + + + + + @@ -105038,6 +130921,12 @@ + + + + + + @@ -105619,6 +131508,7 @@ lambert-eaton myasthenic syndrome antigen myasthenic syndrome antigen B CACNB2 + @@ -105654,6 +131544,30 @@ + + + + + + + + + + + + + + + + FLT3LG + flt3 ligand + fms-related tyrosine kinase 3 ligand + FLT3LG + + + + + @@ -105720,6 +131634,7 @@ transcription factor yy1 yin yang 1 YY1 + @@ -105783,6 +131698,7 @@ CNTN1 contactin 1 CNTN1 + @@ -105805,6 +131721,7 @@ CYB561 cytochrome b561 CYB561 + @@ -105951,6 +131868,7 @@ chitotriosidase methylumbelliferyl-tetra-n-acetylchitotetraoside hydrolase CHIT1 + @@ -105982,6 +131900,7 @@ empty spiracles homeobox 2 empty spiracles, drosophila, 2, homolog of EMX2 + @@ -106101,6 +132020,7 @@ DNA damage-binding protein 1 ddb, p127 subunit DDB1 + @@ -106159,6 +132079,7 @@ atp-binding cassette, subfamily a, member 2 kiaa1062 ABCA2 + @@ -106192,6 +132113,7 @@ cyclic nucleotide-gated channel, alpha-3 cyclic nucleotide-gated channel, olfactory, 3 CNGA3 + @@ -106237,6 +132159,12 @@ + + + + + + @@ -106283,6 +132211,7 @@ leukocyte cell adhesion molecule cd18 This term has one or more labels that end with ', INCLUDED'. ITGB2 + @@ -106326,6 +132255,7 @@ low density lipoprotein receptor-related protein 2 megalin LRP2 + @@ -106396,6 +132326,7 @@ protein-tyrosine phosphatase, nonreceptor-type, 12 ptp-pest PTPN12 + @@ -106413,6 +132344,12 @@ + + + + + + @@ -106475,6 +132412,7 @@ protein-tyrosine kinase syk spleen tyrosine kinase SYK + @@ -106497,6 +132435,7 @@ TUFT1 tuftelin TUFT1 + @@ -106546,6 +132485,12 @@ + + + + + + @@ -106650,6 +132595,12 @@ + + + + + + @@ -106795,6 +132746,7 @@ glutamate/aspartate transporter, high affinity, sodium-dependent solute carrier family 1 (glial high affinity glutamate transporter), member 3 SLC1A3 + @@ -106911,6 +132863,7 @@ dystrophin-associated glycoprotein, 50-kd sarcoglycan, alpha SGCA + @@ -106928,6 +132881,12 @@ + + + + + + @@ -107024,6 +132983,7 @@ phosphodiesterase 4d phosphodiesterase 4d, camp-specific PDE4D + @@ -107075,6 +133035,7 @@ lama3, formerly laminin, alpha-4 LAMA4 + @@ -107092,6 +133053,12 @@ + + + + + + @@ -107188,6 +133155,7 @@ ITPR2 inositol 1,4,5-triphosphate receptor, type 2 ITPR2 + @@ -107236,6 +133204,7 @@ mox1 diverged homeobox gene mox1, mouse, homolog of MEOX1 + @@ -107324,6 +133293,7 @@ PIGF phosphatidylinositol glycan anchor biosynthesis class f protein PIGF + @@ -107346,6 +133316,7 @@ PIGH phosphatidylinositol glycan anchor biosynthesis class h protein PIGH + @@ -107399,6 +133370,7 @@ adaptor-related protein complex 1, beta-1 subunit beta-adaptin-meningioma gene on chromosome 22 AP1B1 + @@ -107595,6 +133567,7 @@ msp receptor ron protein tyrosine kinase MST1R + @@ -107617,6 +133590,7 @@ AQP3 aquaporin 3 AQP3 + @@ -107650,6 +133624,7 @@ janus kinase, leukocyte ljak JAK3 + @@ -107761,6 +133736,7 @@ carnitine acetyltransferase cat1 CRAT + @@ -107858,6 +133834,7 @@ eif5a1 eukaryotic translation initiation factor 5a EIF5A + @@ -107931,6 +133908,7 @@ keratin 2a keratin 2e KRT2 + @@ -108068,6 +134046,7 @@ EPS8 epidermal growth factor receptor pathway substrate 8 EPS8 + @@ -108251,6 +134230,7 @@ tie tyrosine kinase with immunoglobulin and egf factor homology domains 1 TIE1 + @@ -108333,6 +134313,7 @@ cyclin f f-box only protein 1 CCNF + @@ -108393,6 +134374,7 @@ neutral amino acid transporter solute carrier family 1 (glutamate/neutral amino acid transporter), member 4 SLC1A4 + @@ -108415,6 +134397,7 @@ PLCB3 phospholipase c, beta-3 PLCB3 + @@ -108422,6 +134405,12 @@ + + + + + + @@ -108454,6 +134443,7 @@ gaba-a receptor, beta-2 polypeptide gamma-aminobutyric acid receptor, beta-2 GABRB2 + @@ -108479,6 +134469,7 @@ hmg-coa synthase, mitochondrial mitochondrial hmg-coa synthase HMGCS2 + @@ -108543,6 +134534,7 @@ centromeric protein f mitosin CENPF + @@ -108566,6 +134558,7 @@ transglutaminase 3 transglutaminase e TGM3 + @@ -108647,6 +134640,7 @@ AHR aryl hydrocarbon receptor AHR + @@ -108829,6 +134823,7 @@ desmocollin 3 desmocollin 4 DSC3 + @@ -108855,10 +134850,10 @@ pick complex - FTD + FTD1 dementia, frontotemporal, with parkinsonism disinhibition-dementia-parkinsonism-amyotrophy complex - frontotemporal dementia + frontotemporal dementia 1 frontotemporal dementia with parkinsonism frontotemporal lobar degeneration with tau inclusions frontotemporal lobe dementia @@ -108868,7 +134863,7 @@ pallidopontonigral degeneration wilhelmsen-lynch disease This term has one or more labels that end with ', INCLUDED'. - frontotemporal dementia + frontotemporal dementia 1 @@ -108960,6 +134955,7 @@ peroxisomal farnesylated protein peroxisome biogenesis factor 19 PEX19 + @@ -109102,6 +135098,7 @@ adenylyl cyclase 3 kiaa0511 ADCY3 + @@ -109160,6 +135157,7 @@ adenylate cyclase 6 adenylyl cyclase 6 ADCY6 + @@ -109185,6 +135183,7 @@ lim homeobox transcription factor 1, alpha lmx1.1 LMX1A + @@ -109213,6 +135212,7 @@ solute carrier family 1 (glial high affinity glutamate transporter), member 2 This term has one or more labels that end with ', INCLUDED'. SLC1A2 + @@ -109237,6 +135237,7 @@ acyl-coa dehydrogenase, short/branched chain sbcad ACADSB + @@ -109279,6 +135280,7 @@ aquaporin 4 mercurial-insensitive water channel AQP4 + @@ -109357,6 +135359,7 @@ tax-transcriptionally activated glycoprotein 1 receptor tumor necrosis factor receptor superfamily, member 4 TNFRSF4 + @@ -109365,6 +135368,12 @@ + + + + + + @@ -109397,6 +135406,7 @@ TPM4 tropomyosin 4 TPM4 + @@ -109440,6 +135450,12 @@ + + + + + + @@ -109493,6 +135509,7 @@ synaptosomal-associated protein 25 synaptosomal-associated protein, 25-kd SNAP25 + @@ -109530,6 +135547,7 @@ helicase, rna, nuclear 2 oncogene rck DDX6 + @@ -109627,6 +135645,7 @@ solute carrier family 18 (vesicular acetylcholine), member 3 vesicular acetylcholine transporter SLC18A3 + @@ -109650,6 +135669,7 @@ g protein-coupled receptor, retinal rpe-retinal g protein-coupled receptor RGR + @@ -109693,6 +135713,7 @@ polycomb group ring finger protein 2 zinc finger protein 144 PCGF2 + @@ -109700,6 +135721,12 @@ + + + + + + @@ -109811,6 +135838,7 @@ potassium channel, inwardly rectifying, subfamily j, member 1 renal outer-medullary potassium channel KCNJ1 + @@ -109865,6 +135893,7 @@ flightless i, drosophila, homolog of flii actin remodeling protein FLII + @@ -109873,6 +135902,12 @@ + + + + + + @@ -109939,6 +135974,7 @@ phosphate carrier, mitochondrial solute carrier family 25 (mitochondrial carrier), member 3 SLC25A3 + @@ -109954,6 +135990,12 @@ + + + + + + @@ -109985,6 +136027,7 @@ BBS4 bbs4 gene BBS4 + @@ -110028,6 +136071,12 @@ + + + + + + @@ -110098,6 +136147,7 @@ kv2.1 potassium channel, voltage-gated, shab-related subfamily, member 1 KCNB1 + @@ -110194,6 +136244,7 @@ tocopherol transfer protein, alpha ttp1 TTPA + @@ -110228,6 +136279,7 @@ nucleotidase, 5-prime, type B purine 5-prime-nucleotidase NT5C2 + @@ -110390,6 +136442,7 @@ transcription factor a, mitochondrial This term has one or more labels that end with ', INCLUDED'. TFAM + @@ -110415,6 +136468,7 @@ soss complex, subunit b1 ssbp SSBP1 + @@ -110437,6 +136491,7 @@ AQP5 aquaporin 5 AQP5 + @@ -110462,6 +136517,7 @@ aldo-keto reductase family 1, member c2 dihydrodiol dehydrogenase, type 2 AKR1C2 + @@ -110488,6 +136544,7 @@ chlordecone reductase dihydrodiol dehydrogenase 4 AKR1C4 + @@ -110580,6 +136637,12 @@ + + + + + + @@ -110615,6 +136678,7 @@ aldehyde dehydrogenase 6 retinaldehyde dehydrogenase 3 ALDH1A3 + @@ -110638,6 +136702,7 @@ ankyrin 3 ankyrin-g ANK3 + @@ -110717,6 +136782,7 @@ pur-alpha purine-rich element-binding protein a PURA + @@ -110822,6 +136888,7 @@ androgen-induced growth factor fibroblast growth factor 8 FGF8 + @@ -110872,6 +136939,7 @@ nuclear factor of activated t cells, cytoplasmic, calcineurin-dependent 2 nuclear factor of activated t cells, preexisting component NFATC2 + @@ -110896,6 +136964,7 @@ nfe2-related transcription factor 2 nuclear factor erythroid 2-like 2 NFE2L2 + @@ -110921,6 +136990,7 @@ eukaryotic translation initiation factor 4-gamma, 1 eukaryotic translation initiation factor 4g EIF4G1 + @@ -111116,6 +137186,12 @@ + + + + + + @@ -111191,6 +137267,7 @@ purinergic receptor p2y, g protein-coupled, 12 purinoreceptor p2y12 P2RY12 + @@ -111215,6 +137292,7 @@ mannan-binding lectin serine protease 1 masp MASP1 + @@ -111239,6 +137317,7 @@ phospholipase a2, cytosolic, calcium-dependent, alpha phospholipase a2, group 4a PLA2G4A + @@ -111264,6 +137343,7 @@ natural resistance-associated macrophage protein 2 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2 SLC11A2 + @@ -111317,6 +137397,7 @@ cpt i, liver cpt1 CPT1A + @@ -111340,6 +137421,7 @@ AUH au-specific rna-binding protein AUH + @@ -111363,6 +137445,7 @@ complex i, mitochondrial respiratory chain, 24-kd subunit nadh-ubiquinone oxidoreductase flavoprotein 2 NDUFV2 + @@ -111392,6 +137475,7 @@ vang-like 2 vangl planar cell polarity protein 2 VANGL2 + @@ -111414,6 +137498,7 @@ ITGA7 integrin, alpha-7 ITGA7 + @@ -111437,6 +137522,7 @@ RECQL recq protein-like RECQL + @@ -111467,6 +137553,7 @@ nuclear receptor subfamily 4, group a, member 3 This term has one or more labels that end with ', INCLUDED'. NR4A3 + @@ -111492,6 +137579,7 @@ tyrosine kinase-type cell surface receptor her4 v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 ERBB4 + @@ -111712,6 +137800,7 @@ neuroligin 1 nl1 NLGN1 + @@ -111893,6 +137982,7 @@ lim homeobox gene 3 lim3 LHX3 + @@ -111917,6 +138007,7 @@ protein tyrosine phosphatase ptp-u2 protein-tyrosine phosphatase, receptor-type, o PTPRO + @@ -111974,6 +138065,7 @@ bah This term has one or more labels that end with ', INCLUDED'. ASPH + @@ -112064,6 +138156,7 @@ protein phosphatase 1-beta protein phosphatase 1-delta PPP1CB + @@ -112191,6 +138284,7 @@ procollagen-proline, 2-oxoglutarate-4-dioxygenase, alpha subunit, isoform 2 prolyl 4-hydroxylase, alpha-2 subunit P4HA2 + @@ -112222,6 +138316,7 @@ start domain-containing protein 1 steroidogenic acute regulatory protein STAR + @@ -112323,6 +138418,12 @@ + + + + + + @@ -112395,6 +138496,7 @@ opioid-binding cell adhesion molecule opioid-binding protein/cell adhesion molecule-like OPCML + @@ -112480,6 +138582,7 @@ ice and ced3 homolog 1 neural precursor cell expressed, developmentally downregulated 2 CASP2 + @@ -112667,6 +138770,7 @@ mads box transcription enhancer factor 2, polypeptide a myocyte enhancer factor 2a MEF2A + @@ -112732,6 +138836,12 @@ + + + + + + @@ -112765,6 +138875,7 @@ frizzled class receptor 2 frizzled, drosophila, homolog of, 2 FZD2 + @@ -112853,6 +138964,7 @@ upstream binding transcription factor upstream binding transcription factor (rna polymerase i) UBTF + @@ -113062,6 +139174,7 @@ TIAM1 t-cell lymphoma invasion and metastasis 1 TIAM1 + @@ -113093,6 +139206,7 @@ TNNT3 troponin t3, fast skeletal TNNT3 + @@ -113175,6 +139289,7 @@ lipo This term has one or more labels that end with ', INCLUDED'. HMGA2 + @@ -113238,6 +139353,7 @@ hmgiy This term has one or more labels that end with ', INCLUDED'. HMGA1 + @@ -113344,6 +139460,7 @@ ilrs isoleucyl-trna synthetase 1 IARS1 + @@ -113375,6 +139492,7 @@ heterogeneous nuclear ribonucleoprotein k hnrpk HNRNPK + @@ -113398,6 +139516,7 @@ HSD11B1 hsd11l HSD11B1 + @@ -113472,6 +139591,12 @@ + + + + + + @@ -113505,6 +139630,7 @@ palmitoyl-protein thioesterase palmitoyl-protein thioesterase 1 PPT1 + @@ -113532,6 +139658,7 @@ retinal rod cgmp-gated channel, beta subunit retinal rod cgmp-gated channel, gamma subunit CNGB1 + @@ -113626,6 +139753,7 @@ nuclear factor i/a transcription factor nfia NFIA + @@ -113649,6 +139777,7 @@ nuclear factor i/b transcription factor nfib NFIB + @@ -113746,6 +139875,12 @@ + + + + + + @@ -113789,6 +139924,7 @@ t-box 2 t-box transcription factor 2 TBX2 + @@ -113844,6 +139980,7 @@ membrane-type matrix metalloproteinase 1 mt1-mmp MMP14 + @@ -113866,6 +140003,7 @@ SYN2 synapsin 2 SYN2 + @@ -113892,6 +140030,7 @@ protein phosphatase 2, regulatory subunit b-prime protein phosphatase 2a, regulatory subunit b-prime PTPA + @@ -114063,6 +140202,7 @@ muc5 mucin 5, subtype b, tracheobronchial MUC5B + @@ -114096,6 +140236,7 @@ tata box-binding protein-associated factor 2k tbp-associated factor, RNA polymerase ii, 18-kd TAF13 + @@ -114142,6 +140283,7 @@ kip1 p27(kip1) CDKN1B + @@ -114193,6 +140335,7 @@ ho3 mitochondrial hisrs HARS2 + @@ -114222,6 +140365,12 @@ + + + + + + @@ -114287,6 +140436,12 @@ + + + + + + @@ -114321,6 +140476,7 @@ IRS2 insulin receptor substrate 2 IRS2 + @@ -114366,6 +140522,12 @@ + + + + + + @@ -114411,6 +140573,7 @@ melatonin receptor 1b mt2 MTNR1B + @@ -114457,6 +140620,18 @@ + + + + + + + + + + + + @@ -114553,6 +140728,7 @@ DNA damage-binding protein 2 ddb, p48 subunit DDB2 + @@ -114580,6 +140756,7 @@ splicing factor, arginine/serine-rich, 30-kd, a splicing factor, serine/arginine-rich, 1 SRSF1 + @@ -114603,6 +140780,7 @@ meiotic recombination 11, s. cerevisiae, homolog of, a mre11 homolog, double-strand break repair nuclease MRE11 + @@ -114657,6 +140835,7 @@ coatomer protein complex, subunit delta cop, delta ARCN1 + @@ -114713,6 +140892,7 @@ retinoic acid-binding receptor alpha rzr-alpha RORA + @@ -114737,6 +140917,7 @@ phosphodiesterase 6c phosphodiesterase 6c, cgmp-specific, cone, alpha-prime PDE6C + @@ -114762,6 +140943,7 @@ mitochondrial atp synthase, o subunit oligomycin sensitivity-conferring protein ATP5PO + @@ -114785,6 +140967,7 @@ inositol polyphosphate phosphatase-like 1 sh2-containing inositol phosphatase 2 INPPL1 + @@ -114809,6 +140992,7 @@ pre-b cell growth-stimulating factor stromal cell-derived factor 1 CXCL12 + @@ -114831,6 +141015,7 @@ CRYBA2 crystallin, beta-a2 CRYBA2 + @@ -114853,6 +141038,7 @@ GDNF glial cell line-derived neurotrophic factor GDNF + @@ -114905,6 +141091,7 @@ sodium-potassium-chloride transporter 2 solute carrier family 12 (sodium/potassium/chloride transporter), member 1 SLC12A1 + @@ -114975,6 +141162,7 @@ gkrp glucokinase regulatory protein GCKR + @@ -114998,6 +141186,7 @@ p2x receptor, subunit 2 purinergic receptor p2x, ligand-gated ion channel, 2 P2RX2 + @@ -115069,6 +141258,7 @@ heparan sulfate n-deacetylase/n-sulfotransferase n-deacetylase/n-sulfotransferase 1 NDST1 + @@ -115104,6 +141294,7 @@ minibrain, drosophila, homolog of mnb protein kinase, serine/threonine-specific DYRK1A + @@ -115218,6 +141409,7 @@ jtv1 gene trna synthetase cofactor p38 AIMP2 + @@ -115240,6 +141432,7 @@ CSNK1D casein kinase i, delta CSNK1D + @@ -115331,6 +141524,7 @@ potassium channel, inwardly rectifying, subfamily j, member 6 potassium channel, inwardly rectifying, subfamily j, member 7, formerly KCNJ6 + @@ -115360,6 +141554,12 @@ + + + + + + @@ -115378,6 +141578,12 @@ + + + + + + @@ -115562,6 +141768,7 @@ gap junction protein, alpha-8 lens intrinsic membrane protein mp70 GJA8 + @@ -115585,6 +141792,7 @@ sry-box 11 sry-related hmg-box gene 11 SOX11 + @@ -115612,6 +141820,7 @@ p350 protein kinase, dna-activated, catalytic subunit PRKDC + @@ -115635,6 +141844,7 @@ dystrophin-associated glycoprotein, 43-kd sarcoglycan, beta SGCB + @@ -115643,6 +141853,12 @@ + + + + + + @@ -115766,6 +141982,7 @@ protein phosphatase 1, regulatory subunit 3 protein phosphatase 1, regulatory subunit 3a PPP1R3A + @@ -115795,6 +142012,12 @@ + + + + + + @@ -115829,6 +142052,7 @@ fibroblast growth factor 9 glia-activating factor FGF9 + @@ -115913,6 +142137,7 @@ erv1, s. cerevisiae, homolog of growth factor, erv1-like GFER + @@ -115969,6 +142194,7 @@ conserved gene telomeric to alpha globin cluster nitrogen permease regulator-like 3 NPRL3 + @@ -115991,6 +142217,7 @@ CRYBB1 crystallin, beta-b1 CRYBB1 + @@ -116024,6 +142251,7 @@ hyaluronan-mediated motility receptor rhamm HMMR + @@ -116097,6 +142325,7 @@ interleukin 11 receptor, alpha This term has one or more labels that end with ', INCLUDED'. IL11RA + @@ -116120,6 +142349,7 @@ LIG3 ligase iii, dna, atp-dependent LIG3 + @@ -116186,6 +142416,7 @@ DHPS deoxyhypusine synthase DHPS + @@ -116265,6 +142496,7 @@ anti-mullerian hormone type 2 receptor mullerian inhibiting substance type 2 receptor AMHR2 + @@ -116289,6 +142521,7 @@ mullerian-inhibiting factor mullerian-inhibiting substance AMH + @@ -116341,6 +142574,7 @@ coatomer protein complex, subunit beta coatomer protein complex, subunit beta 1 COPB1 + @@ -116366,6 +142600,7 @@ set translocation, myeloid leukemia-associated tafi-beta SET + @@ -116413,6 +142648,7 @@ sine oculis homeobox, drosophila, homolog of, 5 six homeobox 5 SIX5 + @@ -116460,6 +142696,7 @@ solute carrier family 12 (sodium/chloride transporter), member 3 thiazide-sensitive na-cl cotransporter SLC12A3 + @@ -116509,6 +142746,12 @@ + + + + + + @@ -116578,6 +142821,12 @@ + + + + + + @@ -116609,6 +142858,7 @@ DMP1 dentin matrix acidic phosphoprotein 1 DMP1 + @@ -116634,6 +142884,7 @@ mek kinase mitogen-activated protein kinase kinase kinase 1 MAP3K1 + @@ -116698,6 +142949,12 @@ + + + + + + @@ -116796,6 +143053,12 @@ + + + + + + @@ -116813,6 +143076,12 @@ + + + + + + @@ -116949,6 +143218,12 @@ + + + + + + @@ -117011,6 +143286,7 @@ leptin receptor obr LEPR + @@ -117090,6 +143366,7 @@ calcium channel, voltage-dependent, n type, alpha-1b subunit cav2.2 CACNA1B + @@ -117114,6 +143391,7 @@ calcium channel, r type calcium channel, voltage-dependent, alpha-1e subunit CACNA1E + @@ -117138,6 +143416,7 @@ npc intracellular cholesterol transporter 2 npc2 gene NPC2 + @@ -117172,6 +143451,7 @@ snt1 syntrophin, alpha-1 SNTA1 + @@ -117206,6 +143486,7 @@ solute carrier family 6 (neurotransmitter transporter, glycine), member 9 This term has one or more labels that end with ', INCLUDED'. SLC6A9 + @@ -117232,6 +143513,7 @@ nuclear factor of kappa light chain gene enhancer 1n B cells inhibitor-like 1 nuclear factor-kappa-b inhibitor-like protein 1 NFKBIL1 + @@ -117294,6 +143576,7 @@ clathrin-associated/assembly/adaptor protein, medium 1 mu-2 AP2M1 + @@ -117365,6 +143648,7 @@ heterogeneous nuclear ribonucleoprotein h1 hnrph1 HNRNPH1 + @@ -117409,6 +143693,7 @@ scavenger receptor class b, member 1 scavenger receptor, class b, type 1 SCARB1 + @@ -117466,6 +143751,7 @@ catenin, delta-1 p120(ctn) CTNND1 + @@ -117549,6 +143835,7 @@ plexin a1 transmembrane protein nov PLXNA1 + @@ -117572,6 +143859,7 @@ h3 histone, family 3b h3.3b H3F3B + @@ -117645,6 +143933,12 @@ + + + + + + @@ -117680,6 +143974,12 @@ + + + + + + @@ -117814,6 +144114,7 @@ forkhead, drosophila, homolog-like 5 forkhead-related activator 1 FOXF1 + @@ -117869,6 +144170,7 @@ forkhead, drosophila, homolog-like 10 forkhead-related activator 6 FOXI1 + @@ -117986,6 +144288,12 @@ + + + + + + @@ -118039,6 +144347,7 @@ ddx2b eukaryotic translation initiation factor 4a, isoform 2 EIF4A2 + @@ -118062,6 +144371,7 @@ microfibril-associated glycoprotein 2 microfibrillar-associated protein 5 MFAP5 + @@ -118097,6 +144407,7 @@ CTSK cathepsin k CTSK + @@ -118131,6 +144442,7 @@ multidrug resistance-associated protein 2 multispecific organic anion transporter, canalicular ABCC2 + @@ -118147,6 +144459,12 @@ + + + + + + @@ -118192,6 +144510,7 @@ caml get2 CAMLG + @@ -118215,6 +144534,7 @@ caseinolytic mitochondrial matrix peptidase proteolytic subunit clpp, e. coli, homolog of CLPP + @@ -118248,6 +144568,7 @@ h3.3a h3f3 H3F3A + @@ -118270,6 +144591,7 @@ CYP2C8 cytochrome p450, subfamily iic, polypeptide 8 CYP2C8 + @@ -118430,6 +144752,7 @@ cystatin B stefin B CSTB + @@ -118576,6 +144899,7 @@ isocitrate dehydrogenase, nad(+), 3, catalytic subunit alpha isocitrate dehydrogenase, nad(+)-specific, mitochondrial, alpha subunit IDH3A + @@ -118601,6 +144925,7 @@ dead/h-box helicase 11 keratinocyte growth factor regulated gene 2 DDX11 + @@ -118799,6 +145124,7 @@ ARL2 adp-ribosylation factor-like gtpase 2 ARL2 + @@ -118823,6 +145149,7 @@ glutamate-cysteine ligase, modifier subunit glutamate-cysteine ligase, regulatory GCLM + @@ -118881,6 +145208,7 @@ nup358 ran-binding protein 2 RANBP2 + @@ -118905,6 +145233,7 @@ protein kinase inhibitor p58 protein kinase, interferon-inducible double-stranded rna-dependent, inhibitor of DNAJC3 + @@ -118996,6 +145325,7 @@ PLA2G5 phospholipase a2, group 5 PLA2G5 + @@ -119054,6 +145384,7 @@ tub bipartite transcription factor tubby, mouse, homolog of TUB + @@ -119281,6 +145612,7 @@ adenosine deaminase, rna-specific, b1 rna-editing enzyme 1, rat, homolog of ADARB1 + @@ -119472,6 +145804,7 @@ pi3k-gamma pik3-gamma PIK3CG + @@ -119479,6 +145812,12 @@ + + + + + + @@ -119513,6 +145852,7 @@ dystrobrevin, alpha dystrophin-related protein 3 DTNA + @@ -119535,6 +145875,7 @@ GAMT guanidinoacetate methyltransferase GAMT + @@ -119588,6 +145929,7 @@ son of sevenless, drosophila, homolog 2 sos ras/rac guanine nucleotide exchange factor 2 SOS2 + @@ -119613,6 +145955,7 @@ box-dependent myc-interacting protein 1 bridging integrator 1 BIN1 + @@ -119743,6 +146086,7 @@ AMBN ameloblastin enamel matrix protein AMBN + @@ -119768,6 +146112,7 @@ mkk2 protein kinase, mitogen-activated, kinase 2 MAP2K2 + @@ -119799,6 +146144,7 @@ nodal growth differentiation factor nodal, mouse, homolog of NODAL + @@ -119824,6 +146170,7 @@ dutp pyrophosphatase dutpase DUT + @@ -119885,6 +146232,7 @@ hyaluronic acid-binding protein 1 p32 splicing factor sf2-associated protein C1QBP + @@ -119922,6 +146270,7 @@ mab21, c. elegans, homolog-like 1 mab21-like 1 MAB21L1 + @@ -119977,6 +146326,12 @@ + + + + + + @@ -120012,6 +146367,7 @@ activin a receptor, type ii-like kinase 1 activin receptor-like kinase 1 ACVRL1 + @@ -120069,6 +146425,7 @@ sodium/taurocholate cotransporting polypeptide, ileal solute carrier family 10 (sodium/bile acid cotransporter family), member 2 SLC10A2 + @@ -120161,6 +146518,7 @@ activin a receptor, type ii-like kinase 4 activin receptor-like kinase 4 ACVR1B + @@ -120184,6 +146542,7 @@ cyclophilin-related gene 1 peptidyl-prolyl isomerase-like 1 PPIL1 + @@ -120272,6 +146631,7 @@ pkd1 gene polycystin 1 PKD1 + @@ -120297,6 +146657,7 @@ protein kinase c inhibitor 1 protein kinase c-interacting protein 1 HINT1 + @@ -120410,6 +146771,7 @@ oligodendrocyte transmembrane protein oligodendrocyte-specific protein CLDN11 + @@ -120435,6 +146797,7 @@ sodium channel, voltage-gated, type ii, beta subunit sodium voltage-gated channel, beta subunit 2 SCN2B + @@ -120472,6 +146835,12 @@ + + + + + + @@ -120504,6 +146873,7 @@ glucosidase 1 mannosyl-oligosaccharide glycosidase MOGS + @@ -120774,6 +147144,7 @@ dishevelled 1 dsh, drosophila, homolog of, 1 DVL1 + @@ -120812,6 +147183,18 @@ + + + + + + + + + + + + @@ -120850,6 +147233,7 @@ DVL3 dishevelled 3 DVL3 + @@ -120995,6 +147379,12 @@ + + + + + + @@ -121032,6 +147422,7 @@ putative prostate cancer tumor suppressor tumor suppressor candidate 3 TUSC3 + @@ -121103,6 +147494,7 @@ mip1-alpha-p small inducible cytokine a3-like 1 CCL3L1 + @@ -121177,6 +147569,7 @@ g protein-coupled receptor 68 ovarian cancer g protein-coupled receptor 1 GPR68 + @@ -121200,6 +147593,7 @@ caldecrin chymotrypsin c CTRC + @@ -121246,6 +147640,7 @@ zinc finger protein 220 This term has one or more labels that end with ', INCLUDED'. KAT6A + @@ -121273,6 +147668,7 @@ tat-interacting protein, 60-kd This term has one or more labels that end with ', INCLUDED'. KAT5 + @@ -121292,6 +147688,12 @@ + + + + + + @@ -121340,6 +147742,12 @@ + + + + + + @@ -121357,6 +147765,12 @@ + + + + + + @@ -121391,6 +147805,7 @@ solute carrier family 39 (zinc transporter), member 7 zrt- and irt-like protein 7 SLC39A7 + @@ -121489,6 +147904,7 @@ oxct succinyl-coa:3-oxoacid-coa transferase OXCT1 + @@ -121638,6 +148054,7 @@ cofilin, m-type cofilin, muscle CFL2 + @@ -121662,6 +148079,7 @@ nadh-ubiquinone oxidoreductase subunit b9 nadh-ubiquinone oxidoreductase, subunit b22 NDUFB9 + @@ -121744,6 +148162,12 @@ + + + + + + @@ -121842,6 +148266,7 @@ hath1 math1, mouse, homolog of ATOH1 + @@ -121884,6 +148309,7 @@ mllt2-related protein This term has one or more labels that end with ', INCLUDED'. AFF3 + @@ -122035,6 +148461,7 @@ myosin 1e myosin ic, formerly MYO1E + @@ -122057,6 +148484,7 @@ STX1B syntaxin 1b STX1B + @@ -122145,6 +148573,7 @@ neutrophil cytosolic factor 4 p40-phox NCF4 + @@ -122169,6 +148598,7 @@ igfbp, soluble insulin-like growth factor-binding protein, acid-labile subunit IGFALS + @@ -122177,6 +148607,12 @@ + + + + + + @@ -122226,6 +148662,12 @@ + + + + + + @@ -122259,6 +148701,7 @@ gdnf family receptor alpha-1 glial cell line-derived neurotrophic factor receptor alpha GFRA1 + @@ -122373,6 +148816,7 @@ vacuolar protein sorting 35, yeast, homolog of vps35 retromer complex component VPS35 + @@ -122410,6 +148854,7 @@ stat, interleukin 4-induced This term has one or more labels that end with ', INCLUDED'. STAT6 + @@ -122433,6 +148878,7 @@ fibroblast growth factor 12 fibroblast growth factor homologous factor 1 FGF12 + @@ -122497,6 +148943,12 @@ + + + + + + @@ -122560,6 +149012,7 @@ aristaless-like homeobox 1 cartilage homeoprotein 1 ALX1 + @@ -122583,6 +149036,7 @@ vascular endothelial growth factor c vascular endothelial growth factor-related protein VEGFC + @@ -122669,6 +149123,7 @@ prop paired-like homeobox 1 prophet of pit1, paired-like homeodomain transcription factor PROP1 + @@ -122785,6 +149240,12 @@ + + + + + + @@ -122871,6 +149332,12 @@ + + + + + + @@ -122918,6 +149385,7 @@ ataxin 1 This term has one or more labels that end with ', INCLUDED'. ATXN1 + @@ -122926,6 +149394,12 @@ + + + + + + @@ -122993,6 +149467,7 @@ trypsinogen, anionic This term has one or more labels that end with ', INCLUDED'. PRSS2 + @@ -123045,6 +149520,7 @@ inhibitor of growth 1 p33ing1 ING1 + @@ -123069,6 +149545,7 @@ intracellular mannose specific lectin lectin, mannose-binding 1 LMAN1 + @@ -123095,6 +149572,7 @@ adducin-like This term has one or more labels that end with ', INCLUDED'. ADD3 + @@ -123147,6 +149625,7 @@ enhancer of zeste, drosophila, homolog 2 enx1 EZH2 + @@ -123192,6 +149671,7 @@ fos-like antigen 2 fos-related antigen 2 FOSL2 + @@ -123215,6 +149695,7 @@ kiaa0343 neuronal cell adhesion molecule NRCAM + @@ -123223,6 +149704,12 @@ + + + + + + @@ -123332,6 +149819,7 @@ BARD1 brca1-associated ring domain 1 BARD1 + @@ -123355,6 +149843,7 @@ jumonji jumonji, at-rich interactive domain 2 JARID2 + @@ -123419,6 +149908,7 @@ lymphocyte cytosolic protein 2 sh2 domain-containing leukocyte protein, 76-kd LCP2 + @@ -123443,6 +149933,7 @@ il12rb interleukin 12 receptor, beta-1 IL12RB1 + @@ -123577,6 +150068,7 @@ netrin 1, mouse, homolog of netrin 1-like NTN1 + @@ -123603,6 +150095,7 @@ atp-binding cassette, subfamily a, member 3 ced7, c. elegans, homolog of ABCA3 + @@ -123638,6 +150131,7 @@ retinol dehydrogenase 5 retinol dehydrogenase, 11-cis RDH5 + @@ -123689,6 +150183,7 @@ t-box 5 t-box transcription factor 5 TBX5 + @@ -123712,6 +150207,7 @@ t-box 3 t-box transcription factor 3 TBX3 + @@ -123777,6 +150273,7 @@ human papillomavirus e6-associated protein ubiquitin-protein ligase e3a UBE3A + @@ -123784,6 +150281,30 @@ + + + + + + + + + + + + + + + + + + + + + + + + @@ -123838,6 +150359,7 @@ survival of motor neuron 2 survival of motor neuron, centromeric copy SMN2 + @@ -123895,6 +150417,7 @@ pou domain, class 4, transcription factor 1 pou-domain transcription factor brn3a POU4F1 + @@ -123917,6 +150440,7 @@ NSF n-ethylmaleimide-sensitive factor NSF + @@ -124003,6 +150527,7 @@ acyl-coa oxidase, branched-chain, peroxisomal branched-chain acyl-coa oxidase ACOX2 + @@ -124025,6 +150550,7 @@ PPP2R5D protein phosphatase 2, regulatory subunit B (b56), delta PPP2R5D + @@ -124042,6 +150568,12 @@ + + + + + + @@ -124076,6 +150608,7 @@ myocilin trabecular meshwork-induced glucocorticoid response protein MYOC + @@ -124192,6 +150725,7 @@ estrogen receptor 2 estrogen receptor, beta ESR2 + @@ -124219,6 +150753,7 @@ u5 snrnp-specific protein, 200-kd u5-200kd SNRNP200 + @@ -124226,6 +150761,42 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + @@ -124307,6 +150878,7 @@ ang1 angiopoietin 1 ANGPT1 + @@ -124350,6 +150922,7 @@ requiem, apoptosis response zinc finger gene ubi-d4/requiem homolog DPF2 + @@ -124391,6 +150964,12 @@ + + + + + + @@ -124410,6 +150989,12 @@ + + + + + + @@ -124494,6 +151079,7 @@ ka12 keratin 12, type 1 KRT12 + @@ -124548,6 +151134,7 @@ tata box-binding protein-associated factor c2 tbp-associated factor, RNA polymerase ii, 105-kd TAF4B + @@ -124575,6 +151162,7 @@ platelet-activating factor acetylhydrolase platelet-activating factor acetylhydrolase, plasma PLA2G7 + @@ -124700,6 +151288,7 @@ UCP2 uncoupling protein 2 UCP2 + @@ -124753,6 +151342,7 @@ serpin family b, member 8 serpin peptidase inhibitor, clade B (ovalbumin), member 8 SERPINB8 + @@ -124779,6 +151369,7 @@ prostacyclin synthase prostaglandin i2 synthase PTGIS + @@ -124885,6 +151476,7 @@ unc18, c. elegans, homolog of, 2 unc18b STXBP2 + @@ -124957,6 +151549,7 @@ frizzled class receptor 5 frizzled, drosophila, homolog of, 5 FZD5 + @@ -125009,6 +151602,7 @@ NEUROD2 neurogenic differentiation 2 NEUROD2 + @@ -125033,6 +151627,7 @@ neurogenin 1 ngn1 NEUROG1 + @@ -125113,6 +151708,7 @@ gpi2, yeast, homolog of phosphatidylinositol glycan anchor biosynthesis class c protein PIGC + @@ -125138,6 +151734,7 @@ aicarft/impchase purh ATIC + @@ -125164,6 +151761,7 @@ swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily c, member 1 swi3, yeast, homolog of SMARCC1 + @@ -125190,6 +151788,7 @@ swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily c, member 2 swi3, yeast, homolog of SMARCC2 + @@ -125216,6 +151815,7 @@ swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily d, member 1 swp73, yeast, homolog of SMARCD1 + @@ -125242,6 +151842,7 @@ swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily d, member 2 swp73, yeast, homolog of SMARCD2 + @@ -125266,6 +151867,7 @@ meis1, mouse, homolog of, 2 meis1-related gene 1 MEIS2 + @@ -125289,6 +151891,7 @@ oncostatin m receptor oncostatin m-specific receptor, beta OSMR + @@ -125324,6 +151927,7 @@ hypoxia up-regulated 1 oxygen-regulated protein, 150-kd HYOU1 + @@ -125348,6 +151952,7 @@ fkbp-associated protein, 68-kd glomulin GLMN + @@ -125373,6 +151978,7 @@ ectonucleoside triphosphate diphosphohydrolase 1 vascular atp diphosphohydrolase ENTPD1 + @@ -125397,6 +152003,7 @@ polypeptide n-acetylgalactosaminyltransferase 3 udp-n-acetyl-alpha-d-galactosamine:polypeptide n-acetylgalactosaminyltransferase 3 GALNT3 + @@ -125621,6 +152228,7 @@ vitamin d hormone receptor vitamin d receptor VDR + @@ -125669,6 +152277,12 @@ + + + + + + @@ -125721,6 +152335,7 @@ polymerase, rna, mitochondrial This term has one or more labels that end with ', INCLUDED'. POLRMT + @@ -125772,6 +152387,7 @@ PMM2 phosphomannomutase 2 PMM2 + @@ -125795,6 +152411,7 @@ growth/differentiation factor 8 myostatin MSTN + @@ -125848,6 +152465,7 @@ peroxin 14 peroxisome biogenesis factor 14 PEX14 + @@ -125894,6 +152512,7 @@ tata box-binding protein-associated factor c1 tbp-associated factor, RNA polymerase ii, 130-kd TAF4 + @@ -125982,6 +152601,7 @@ minichromosome maintenance, s. pombe, homolog of, 6 This term has one or more labels that end with ', INCLUDED'. MCM6 + @@ -126005,6 +152625,7 @@ matrix metalloproteinase 18, formerly matrix metalloproteinase 19 MMP19 + @@ -126122,6 +152743,7 @@ fxyd domain-containing ion transport regulator 2 sodium-potassium-atpase, gamma-1 polypeptide FXYD2 + @@ -126218,6 +152840,7 @@ nadh-ubiquinone oxidoreductase fe-s protein 7 psst NDUFS7 + @@ -126251,6 +152874,7 @@ nuclear receptor-related 1 transcriptionally inducible nuclear receptor NR4A2 + @@ -126338,6 +152962,7 @@ sodium-iodide symporter solute carrier family 5 (sodium iodide symporter), member 5 SLC5A5 + @@ -126361,6 +152986,7 @@ prkwnk4 protein kinase, lysine-deficient 4 WNK4 + @@ -126368,6 +152994,12 @@ + + + + + + @@ -126443,6 +153075,7 @@ p115-rhogef rho guanine nucleotide exchange factor 1 ARHGEF1 + @@ -126523,6 +153156,7 @@ regulatory factor x-associated protein rfx-associated protein RFXAP + @@ -126594,6 +153228,7 @@ procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 telopeptide lysyl hydroxylase PLOD2 + @@ -126613,6 +153248,12 @@ + + + + + + @@ -126649,6 +153290,7 @@ galnact gm2/gd2 synthase B4GALNT1 + @@ -126692,6 +153334,7 @@ retina and anterior neural fold homeobox gene rx homeobox gene RAX + @@ -126713,6 +153356,12 @@ + + + + + + @@ -126776,6 +153425,7 @@ cystatin m cystatin m/e CST6 + @@ -126799,6 +153449,7 @@ importin alpha-4 karyopherin alpha-3 KPNA3 + @@ -126866,6 +153517,7 @@ lmp1-associated protein 1 tnf receptor-associated factor 3 TRAF3 + @@ -126891,6 +153543,7 @@ zinc finger protein 148 zinc-binding protein 89 ZNF148 + @@ -126913,6 +153566,7 @@ GHSR growth hormone secretagogue receptor GHSR + @@ -126937,6 +153591,7 @@ lymphocyte-specific irf multiple myeloma oncogene 1 IRF4 + @@ -126961,6 +153616,7 @@ origin recognition complex, subunit 1 origin recognition complex, subunit 1, s. cerevisiae, homolog of ORC1 + @@ -126985,6 +153641,7 @@ udp glycosyltransferase 2 family, member b17 uridine diphosphate glycosyltransferase 2 family, member b17 UGT2B17 + @@ -127046,6 +153703,7 @@ distal-less homeobox 4 This term has one or more labels that end with ', INCLUDED'. DLX4 + @@ -127073,6 +153731,7 @@ smt3c ubiquitin-like 1 SUMO1 + @@ -127098,6 +153757,7 @@ guided entry of tail-anchored proteins factor 3, atpase transmembrane domain recognition complex, 40-kd GET3 + @@ -127122,6 +153782,7 @@ arginine-rich protein mutated 1n early stage tumors mesencephalic astrocyte-derived neurotrophic factor MANF + @@ -127144,6 +153805,7 @@ GDF9 growth/differentiation factor 9 GDF9 + @@ -127216,6 +153878,7 @@ ang2 angiopoietin 2 ANGPT2 + @@ -127249,6 +153912,7 @@ coatomer protein complex, subunit alpha This term has one or more labels that end with ', INCLUDED'. COPA + @@ -127273,6 +153937,7 @@ rho gdp-dissociation inhibitor alpha rhogdi ARHGDIA + @@ -127311,6 +153976,7 @@ keratin, hair, basic, 6 keratin, hard, type ii, 6 KRT86 + @@ -127334,6 +154000,7 @@ basonuclin 1 bnc BNC1 + @@ -127357,6 +154024,7 @@ cryptochrome 1 photolyase 1 CRY1 + @@ -127498,6 +154166,7 @@ tap-binding protein tapasin TAPBP + @@ -127522,6 +154191,7 @@ wingless-type mmtv integration site family, member 2b xwnt2, xenopus, homolog of WNT2B + @@ -127556,6 +154226,7 @@ retinoic acid-binding receptor beta rzr-beta RORB + @@ -127578,6 +154249,7 @@ PKP1 plakophilin 1 PKP1 + @@ -127660,6 +154332,7 @@ 8-oxoguanine DNA glycosylase OGG1 OGG1 + @@ -127692,6 +154365,7 @@ trp73, mouse, homolog of tumor protein p73 TP73 + @@ -127716,6 +154390,7 @@ neurooncologic ventral antigen 2 nova alternative splicing regulator 2 NOVA2 + @@ -127755,6 +154430,7 @@ restrictin tenascin r TNR + @@ -127789,6 +154465,7 @@ rpa2 rpo1-2 POLR1B + @@ -127812,6 +154489,7 @@ cytochrome c oxidase, subunit 6a2 cytochrome c oxidase, subunit via, polypeptide 2 COX6A2 + @@ -127831,6 +154509,12 @@ + + + + + + @@ -127868,6 +154552,7 @@ proteasome subunit beta-6 proteasome subunit, beta-type, 1 PSMB1 + @@ -127892,6 +154577,7 @@ myosin phosphatase, myosin-binding subunit protein phosphatase 1, regulatory subunit 12a PPP1R12A + @@ -127944,6 +154630,7 @@ chloride channel, kidney, a clck1 CLCNKA + @@ -127951,6 +154638,12 @@ + + + + + + @@ -127985,6 +154678,7 @@ pahx phytanoyl-coa hydroxylase PHYH + @@ -128012,6 +154706,12 @@ + + + + + + @@ -128046,6 +154746,7 @@ echinoderm microtubule-associated protein-like 1 emap EML1 + @@ -128079,6 +154780,7 @@ ras homolog gene family, member h translocation three four RHOH + @@ -128101,6 +154803,7 @@ UCP3 uncoupling protein 3 UCP3 + @@ -128125,6 +154828,7 @@ ras-related c3 botulinum toxin substrate 1 rho family, small gtp-binding protein rac1 RAC1 + @@ -128183,6 +154887,7 @@ ras-related c3 botulinum toxin substrate 3 rho family, small gtp-binding protein rac3 RAC3 + @@ -128287,6 +154992,7 @@ TALDO1 transaldolase 1 TALDO1 + @@ -128312,6 +155018,7 @@ impase myoinositol monophosphatase 1 IMPA1 + @@ -128376,6 +155083,7 @@ cytochrome c oxidase, subunit 6a1 cytochrome c oxidase, subunit via, polypeptide 1 COX6A1 + @@ -128429,6 +155137,12 @@ + + + + + + @@ -128447,6 +155161,12 @@ + + + + + + @@ -128475,6 +155195,12 @@ + + + + + + @@ -128582,6 +155308,12 @@ + + + + + + @@ -128771,6 +155503,7 @@ trafficking protein particle complex, subunit 10 transmembrane protein 1 TRAPPC10 + @@ -128793,6 +155526,7 @@ SH3BP2 sh3 domain-binding protein 2 SH3BP2 + @@ -128968,6 +155702,7 @@ CHD1 chromodomain helicase dna-binding protein 1 CHD1 + @@ -128990,6 +155725,7 @@ CHD2 chromodomain helicase dna-binding protein 2 CHD2 + @@ -129014,6 +155750,7 @@ mi2-alpha zinc finger helicase CHD3 + @@ -129066,6 +155803,7 @@ SRP72 signal recognition particle, 72-kd SRP72 + @@ -129090,6 +155828,7 @@ cam kinase 2 gamma subunit camkg CAMK2G + @@ -129134,6 +155873,7 @@ cytochrome c oxidase assembly factor cox10 heme a:farnesyltransferase COX10 + @@ -129159,6 +155899,7 @@ mapkap3 mitogen-activated protein kinase-activated protein kinase 3 MAPKAPK3 + @@ -129200,6 +155941,7 @@ inner dynein arm, chlamydomonas, homolog of p28 DNALI1 + @@ -129259,6 +156001,7 @@ nadh-ubiquinone oxidoreductase 1 alpha subcomplex 2 nadh-ubiquinone oxidoreductase subunit a2 NDUFA2 + @@ -129282,6 +156025,7 @@ nadh-ubiquinone oxidoreductase 1 alpha subcomplex, 6 nadh-ubiquinone oxidoreductase subunit a6 NDUFA6 + @@ -129305,6 +156049,7 @@ nadh-ubiquinone oxidoreductase 1 beta subcomplex, 8 nadh-ubiquinone oxidoreductase subunit b8 NDUFB8 + @@ -129329,6 +156074,7 @@ nadh-ubiquinone oxidoreductase fe-s protein 8 tyky NDUFS8 + @@ -129351,6 +156097,7 @@ PLCD1 phospholipase c, delta-1 PLCD1 + @@ -129373,6 +156120,7 @@ BRDT bromodomain, testis-specific BRDT + @@ -129397,6 +156145,7 @@ lim homeobox gene 4 This term has one or more labels that end with ', INCLUDED'. LHX4 + @@ -129432,6 +156181,7 @@ pituitary homeobox 1 pituitary otx-related factor PITX1 + @@ -129471,6 +156221,7 @@ keratin, hair, basic, 1 keratin, hard, type ii, 1 KRT81 + @@ -129505,6 +156256,7 @@ ap3b, beta-3b neuronal adaptin-like protein, beta subunit AP3B2 + @@ -129529,6 +156281,7 @@ estrogen-related receptor 2 estrogen-related receptor, beta ESRRB + @@ -129611,6 +156364,7 @@ proteasome subunit beta-7 proteasome subunit, beta-type, 4 PSMB4 + @@ -129635,6 +156389,7 @@ nk3 homeobox 2 nkx3.2, mouse, homolog of NKX3-2 + @@ -129800,6 +156555,7 @@ ECM1 extracellular matrix protein 1 ECM1 + @@ -129824,6 +156580,7 @@ oligosaccharyltransferase oligosaccharyltransferase, 48-kd DDOST + @@ -129854,6 +156611,7 @@ RAB18 ras-associated protein rab18 RAB18 + @@ -129906,6 +156664,7 @@ seven 1n absentia, drosophila, homolog of, 1 siah e3 ubiquitin protein ligase family, member 1 SIAH1 + @@ -129993,6 +156752,7 @@ hsal2 sal-like 2 SALL2 + @@ -130020,6 +156780,7 @@ zinc finger, mym-type 2 This term has one or more labels that end with ', INCLUDED'. ZMYM2 + @@ -130081,6 +156842,7 @@ transcription factor 7-like 2 This term has one or more labels that end with ', INCLUDED'. TCF7L2 + @@ -130140,6 +156902,7 @@ potassium channel, voltage-gated, kqt-like subfamily, member 3 potassium channel, voltage-gated, subfamily q, member 3 KCNQ3 + @@ -130209,6 +156972,7 @@ exosome component 2 ribosomal rna-processing protein 4, s. cerevisiae, homolog of EXOSC2 + @@ -130231,6 +156995,7 @@ MIPEP mitochondrial intermediate peptidase MIPEP + @@ -130256,6 +157021,7 @@ clathrin adaptor protein ap17 clathrin-associated/assembly/adaptor protein, small 2, 17-kd AP2S1 + @@ -130309,6 +157075,31 @@ DNASE1L3 deoxyribonuclease i-like 3 DNASE1L3 + + + + + + + + + + + + + + + + + + + + + GTPBP1 + gp1 + gtp-binding protein 1 + GTPBP1 + @@ -130364,6 +157155,7 @@ ly63, mouse, homolog of tumor necrosis factor receptor superfamily, member 9 TNFRSF9 + @@ -130397,6 +157189,7 @@ lysosomal integral membrane protein 2 scavenger receptor class b, member 2 SCARB2 + @@ -130492,6 +157285,7 @@ galnac transferase 2 udp-n-acetyl-alpha-d-galactosamine:polypeptide n-acetylgalactosaminyltransferase 2 GALNT2 + @@ -130516,6 +157310,7 @@ guanylate cyclase-activating protein, photoreceptor 2 guanylin 2, retina GUCA1B + @@ -130540,6 +157335,7 @@ polyadenylate-binding protein 2 polyadenylate-binding protein, nuclear, 1 PABPN1 + @@ -130596,6 +157392,7 @@ sterol c5-desaturase sterol c5-desaturase-like SC5D + @@ -130651,6 +157448,7 @@ forkhead, drosophila, homolog of, 13 hfh4 FOXJ1 + @@ -130674,6 +157472,7 @@ enoyl-coa hydratase, short-chain, 1, mitochondrial short-chain enoyl-coa hydratase ECHS1 + @@ -130700,6 +157499,7 @@ kinase-interacting protein 1 kip CIB1 + @@ -130724,6 +157524,7 @@ mu-adaptin-related protein 2 mu-arp2 AP4M1 + @@ -130746,6 +157547,7 @@ RAB7 ras-associated protein rab7 RAB7 + @@ -130886,6 +157688,7 @@ condensin 1 complex, non-smc subunit h non-smc condensin 1 complex subunit h NCAPH + @@ -130908,6 +157711,7 @@ EMP2 epithelial membrane protein 2 EMP2 + @@ -130931,6 +157735,7 @@ neurotrophic tyrosine kinase, receptor-related 1 receptor tyrosine kinase-like orphan receptor 1 ROR1 + @@ -131004,6 +157809,7 @@ transient receptor potential channel 3 transient receptor potential, drosophila, homolog of, 3 TRPC3 + @@ -131073,6 +157879,7 @@ LAT linker for activation of t cells LAT + @@ -131097,6 +157904,7 @@ wasp-interacting protein wiskott-aldrich syndrome protein-interacting protein WIPF1 + @@ -131126,6 +157934,7 @@ preproorexin This term has one or more labels that end with ', INCLUDED'. HCRT + @@ -131237,6 +158046,7 @@ np 1 pentraxin i, neuronal NPTX1 + @@ -131259,6 +158069,7 @@ GRID2 glutamate receptor, ionotropic, delta 2 GRID2 + @@ -131283,6 +158094,7 @@ mitochondrial ribosomal protein l12 ribosomal protein, mitochondrial, l12 MRPL12 + @@ -131405,6 +158217,7 @@ PLD1 phospholipase d1, phosphatidylcholine-specific PLD1 + @@ -131430,6 +158243,7 @@ mitochondrial translation elongation factor tu tu translation elongation factor, mitochondrial TUFM + @@ -131438,6 +158252,12 @@ + + + + + + @@ -131492,6 +158312,12 @@ + + + + + + @@ -131508,6 +158334,12 @@ + + + + + + @@ -131613,6 +158445,7 @@ myeloid/lymphoid or mixed lineage leukemia, translocated to, 10 This term has one or more labels that end with ', INCLUDED'. MLLT10 + @@ -131637,6 +158470,7 @@ bromodomain-containing protein, 140-kd peregrin BRPF1 + @@ -131659,6 +158493,7 @@ RPS24 ribosomal protein s24 RPS24 + @@ -131778,6 +158613,7 @@ t-box 6 t-box transcription factor 6 TBX6 + @@ -131858,6 +158694,7 @@ roundabout, drosophila, homolog of, 2 sax3, c. elegans, homolog of, 2 ROBO2 + @@ -131932,6 +158769,7 @@ HSF4 heat-shock transcription factor 4 HSF4 + @@ -132011,6 +158849,7 @@ protease inhibitor 12 serine protease inhibitor, clade i, member 1 SERPINI1 + @@ -132117,6 +158956,7 @@ fas-associating protein with death domain mort1 FADD + @@ -132144,6 +158984,7 @@ sortilin This term has one or more labels that end with ', INCLUDED'. SORT1 + @@ -132152,6 +158993,12 @@ + + + + + + @@ -132186,6 +159033,7 @@ pou domain, class 4, transcription factor 3 pou-domain transcription factor brn3c POU4F3 + @@ -132209,6 +159057,7 @@ sprouty rtk signaling antagonist 2 sprouty, drosophila, homolog of, 2 SPRY2 + @@ -132224,6 +159073,12 @@ + + + + + + @@ -132249,6 +159104,12 @@ + + + + + + @@ -132324,6 +159185,7 @@ brn1, mouse, homolog of pou domain, class 3, transcription factor 3 POU3F3 + @@ -132360,6 +159222,12 @@ + + + + + + @@ -132413,6 +159281,7 @@ pop1 homolog, ribonuclease p/mrp subunit processing of precursor 1, s. cerevisiae, homolog of POP1 + @@ -132436,6 +159305,7 @@ nuclear receptor-interacting protein 1 receptor-interacting protein 140 NRIP1 + @@ -132443,6 +159313,12 @@ + + + + + + @@ -132568,6 +159444,7 @@ ubiquitin-specific protease, herpesvirus-associated vmw110-associated protein, 135-kd USP7 + @@ -132616,6 +159493,7 @@ tubulin, alpha, brain-specific tubulin, alpha-1a TUBA1A + @@ -132623,6 +159501,12 @@ + + + + + + @@ -132658,6 +159542,7 @@ park7 gene parkinsonism-associated deglycase DJ1 + @@ -132725,6 +159610,7 @@ calpain 5 htra3 CAPN5 + @@ -132750,6 +159636,7 @@ cugbp- and elav-like family, member 2 rna-binding protein etr3 CELF2 + @@ -132767,6 +159654,12 @@ + + + + + + @@ -132845,6 +159738,7 @@ NUP88 nucleoporin, 88-kd NUP88 + @@ -132889,6 +159783,12 @@ + + + + + + @@ -132989,6 +159889,7 @@ SNCB synuclein, beta SNCB + @@ -133012,6 +159913,7 @@ jagged 2 serrate 2 JAG2 + @@ -133123,6 +160025,7 @@ lfng o-fucosylpeptide 3-beta-n-acetylglucosaminyltransferase lunatic fringe LFNG + @@ -133131,6 +160034,12 @@ + + + + + + @@ -133172,6 +160081,7 @@ golgin 95 golgin a2 GOLGA2 + @@ -133227,6 +160137,7 @@ alpha-1,6-fucosyltransferase fucosyltransferase 8 FUT8 + @@ -133250,6 +160161,7 @@ p21 cdc42/rac1-activated kinase 1 p21 protein-activated kinase 1 PAK1 + @@ -133274,6 +160186,7 @@ kinesin family member 2a kinesin heavy chain member 2a KIF2A + @@ -133361,6 +160274,7 @@ apolipoprotein e receptor 2 low density lipoprotein receptor-related protein 8 LRP8 + @@ -133385,6 +160299,7 @@ low density lipoprotein, oxidized, receptor 1 oxidized low density lipoprotein receptor 1 OLR1 + @@ -133425,6 +160340,7 @@ cart prepropeptide cocaine- and amphetamine-regulated transcript CARTPT + @@ -133513,6 +160429,7 @@ gnt 2 udp-n-acetylglucosamine:alpha-6-d-mannoside beta-1,2-n-acetylglucosaminyltransferase 2 MGAT2 + @@ -133566,6 +160483,7 @@ CTBP1 c-terminal-binding protein 1 CTBP1 + @@ -133590,6 +160508,7 @@ fk506-binding protein, 51-kd fkbp54 FKBP5 + @@ -133624,6 +160543,7 @@ cell division cycle 6 cell division cycle 6, s. cerevisiae, homolog of CDC6 + @@ -133632,6 +160552,12 @@ + + + + + + @@ -133666,6 +160592,7 @@ tgfb-induced factor transforming growth factor-beta-induced factor TGIF + @@ -133763,6 +160690,7 @@ minichromosome maintenance complex component 4 minichromosome maintenance, s. cerevisiae, homolog of, 4 MCM4 + @@ -133807,6 +160735,7 @@ tnf-related activation-induced cytokine tumor necrosis factor ligand superfamily, member 11 TNFSF11 + @@ -133831,6 +160760,7 @@ osteoprotegerin tumor necrosis factor receptor superfamily, member 11b TNFRSF11B + @@ -133883,6 +160813,7 @@ endonuclease iii-like 1 octs3 NTHL1 + @@ -133915,6 +160846,7 @@ phosphodiesterase 2a phosphodiesterase 2a, cgmp-stimulated PDE2A + @@ -133940,6 +160872,7 @@ tubulin, beta-2c tubulin, beta-4b TUBB4B + @@ -134023,6 +160956,7 @@ myosin 15 myosin 15a MYO15A + @@ -134067,6 +161001,12 @@ + + + + + + @@ -134180,6 +161120,7 @@ phosphodiesterase 6d, cgmp-specific, rod, delta retinal rod photoreceptor cgmp phosphodiesterase, delta subunit PDE6D + @@ -134205,6 +161146,7 @@ microtubule-associated protein/microtubule affinity-regulating kinase 3 par1, c. elegans, homolog of, a MARK3 + @@ -134229,6 +161171,7 @@ ethanolamine-phosphate cytidylyltransferase phosphate cytidylyltransferase 2, ethanolamine PCYT2 + @@ -134347,6 +161290,7 @@ nadh-coenzyme q reductase, 18-kd nadh-ubiquinone oxidoreductase fe-s protein 4 NDUFS4 + @@ -134371,6 +161315,7 @@ minichromosome maintenance complex component 5 minichromosome maintenance, s. cerevisiae, homolog of, 5 MCM5 + @@ -134428,6 +161373,7 @@ KATNB1 katanin, p80 subunit, b1 KATNB1 + @@ -134454,6 +161400,7 @@ mouse double minute 4 homolog p53-binding protein mdm4 MDM4 + @@ -134477,6 +161424,7 @@ protease 26s, subunit 4 proteasome 26s subunit, atpase, 1 PSMC1 + @@ -134501,6 +161449,7 @@ metalloproteinase-like, disintegrin-like, and cysteine-rich protein 9 myeloma cell metalloproteinase ADAM9 + @@ -134528,6 +161477,7 @@ thyroid and eye muscle autoantigen, 64-kd thyroid-associated ophthalmopathy autoantigen, 64-kd LMOD1 + @@ -134552,6 +161502,7 @@ nphn renal glomerulus-specific cell adhesion receptor NPHS1 + @@ -134575,6 +161526,7 @@ glutamate receptor, ionotropic, n-methyl-d-aspartate, subunit 2d n-methyl-d-aspartate receptor channel, subunit epsilon-4 GRIN2D + @@ -134583,6 +161535,12 @@ + + + + + + @@ -134627,6 +161585,7 @@ chloride channel 6 clc6 CLCN6 + @@ -134685,6 +161644,7 @@ activin a receptor, type 2b actriib ACVR2B + @@ -134711,6 +161671,7 @@ p120/130 slap130 FYB1 + @@ -134736,6 +161697,7 @@ intestine-specific plastin plastin 1 PLS1 + @@ -134761,6 +161723,7 @@ mitochondrial atp synthase, subunit 9, isoform 3 mitochondrial atp synthase, subunit c, isoform 3 ATP5MC3 + @@ -134821,6 +161784,7 @@ dihydroxyacetonephosphate acyltransferase glyceronephosphate o-acyltransferase GNPAT + @@ -134845,6 +161809,7 @@ map kinase phosphatase 3 pyst1 DUSP6 + @@ -134868,6 +161833,7 @@ aristaless homeobox, drosophila, homolog of paired-like homeobox 2a PHOX2A + @@ -134894,6 +161860,7 @@ potassium channel, calcium-activated, intermediate/small conductance, subfamily n, member 4 sk4 KCNN4 + @@ -134921,6 +161888,7 @@ pi4k-beta pi4kiii-beta PI4KB + @@ -134998,6 +161966,7 @@ keratin, hair, basic, 5 keratin, hard, type ii, 5 KRT85 + @@ -135022,6 +161991,7 @@ delta-like 3 delta-like canonical notch ligand 3 DLL3 + @@ -135080,6 +162050,7 @@ chromobox homolog 2, drosophila polycomb class m33, mouse, homolog of CBX2 + @@ -135088,6 +162059,12 @@ + + + + + + @@ -135114,6 +162091,12 @@ + + + + + + @@ -135176,6 +162159,7 @@ shoc2 leucine-rich repeat scaffold protein suppressor of clear, c. elegans, homolog of SHOC2 + @@ -135201,6 +162185,7 @@ small nuclear rna-activating protein complex, 190-kd subunit small nuclear rna-activating protein complex, polypeptide 4 SNAPC4 + @@ -135262,6 +162247,12 @@ + + + + + + @@ -135304,6 +162295,7 @@ spg7 gene spg7 matrix aaa peptidase subunit, paraplegin SPG7 + @@ -135375,6 +162367,7 @@ histone gene cluster 1, h4 histone family, member j histone gene cluster 1, h4j H4C11 + @@ -135402,6 +162395,7 @@ histone gene cluster 1, h4 histone family, member c histone gene cluster 1, h4c H4C3 + @@ -135428,6 +162422,7 @@ histone gene cluster 1, h4 histone family, member e histone gene cluster 1, h4e H4C5 + @@ -135456,6 +162451,7 @@ histone gene cluster 1, h4i This term has one or more labels that end with ', INCLUDED'. H4C9 + @@ -135487,6 +162483,7 @@ GAS2 growth arrest-specific 2 GAS2 + @@ -135549,6 +162546,7 @@ cd70 antigen tumor necrosis factor ligand superfamily, member 7 CD70 + @@ -135572,6 +162570,7 @@ gem geminin DNA replication inhibitor GMNN + @@ -135640,6 +162639,7 @@ nudix hydrolase 2 nudix motif 2 NUDT2 + @@ -135665,6 +162665,7 @@ proteasome subunit iota proteasome subunit, alpha-type, 6 PSMA6 + @@ -135688,6 +162689,7 @@ DHCR7 sterol delta-7-reductase DHCR7 + @@ -135776,6 +162778,7 @@ PKP2 plakophilin 2 PKP2 + @@ -135802,6 +162805,7 @@ mac25 prostacyclin-stimulating factor IGFBP7 + @@ -135826,6 +162830,7 @@ hnrpu scaffold attachment factor a HNRNPU + @@ -135890,6 +162895,7 @@ OCLN occludin OCLN + @@ -135913,6 +162919,7 @@ erythrocyte membrane protein band 4.1-like 1 nonerythroid protein 4.1, neuron type EPB41L1 + @@ -135966,6 +162973,7 @@ postsynaptic density 95 synapse-associated protein 90 DLG4 + @@ -136027,6 +163035,7 @@ tarp-gamma-2 transmembrane ampa receptor regulatory protein, gamma-2 CACNG2 + @@ -136053,6 +163062,7 @@ phenylalanine-trna synthetase-like, alpha subunit phersa FARSA + @@ -136085,6 +163095,7 @@ syntaxin-binding protein 1 unc18, c. elegans, homolog of, 1 STXBP1 + @@ -136145,6 +163156,7 @@ sma- and mad-related protein 7 smad family member 7 SMAD7 + @@ -136167,6 +163179,7 @@ FAAH fatty acid amide hydrolase FAAH + @@ -136230,6 +163243,7 @@ bile acid coa:amino acid n-acyltransferase glycine n-choloyltransferase BAAT + @@ -136255,6 +163269,7 @@ retinoic acid-binding receptor gamma rzr-gamma RORC + @@ -136279,6 +163294,7 @@ nuclear receptor-binding set domain protein 2 wolf-hirschhorn syndrome candidate 1 NSD2 + @@ -136304,6 +163320,7 @@ s. cerevisiae rad51-like 3 trad RAD51D + @@ -136331,6 +163348,7 @@ tata box-binding protein-associated factor 2e tbp-associated factor, RNA polymerase ii, 70- to 85-kd TAF6 + @@ -136355,6 +163373,7 @@ x-ray repair cross complementing 9 x-ray repair, complementing defective, 1n chinese hamster, 9 FANCG + @@ -136435,6 +163454,7 @@ aquaporin 7-like aquaporin, adipose AQP7 + @@ -136471,6 +163491,7 @@ polyhomeotic-like 1 retinoic acid-activated early-28, mouse, homolog of PHC1 + @@ -136494,6 +163515,7 @@ ae-binding protein 1 aortic carboxypeptidase-like protein AEBP1 + @@ -136518,6 +163540,7 @@ sk3 skca3 KCNN3 + @@ -136570,6 +163593,7 @@ hcam3 phosphodiesterase 1c PDE1C + @@ -136679,6 +163703,7 @@ transportin 2 trn2 TNPO2 + @@ -136717,6 +163742,7 @@ paps synthetase 2 phosphoadenosine-phosphosulfate synthetase 2 PAPSS2 + @@ -136847,6 +163873,7 @@ zinc finger protein, subfamily 1a, member 1 This term has one or more labels that end with ', INCLUDED'. IKZF1 + @@ -136875,6 +163902,7 @@ p270 swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily f, member 1 ARID1A + @@ -136902,6 +163930,7 @@ phosphatidylinositol-binding clathrin assembly protein This term has one or more labels that end with ', INCLUDED'. PICALM + @@ -136959,6 +163988,7 @@ fructose-1,6-bisphosphatase 2 fructose-1,6-bisphosphatase, muscle FBP2 + @@ -137080,6 +164110,7 @@ acetylcholinesterase-associated collagen collagenic tail of endplate acetylcholinesterase COLQ + @@ -137088,6 +164119,12 @@ + + + + + + @@ -137135,6 +164172,12 @@ + + + + + + @@ -137189,6 +164232,7 @@ ring finger protein 139 translocation 1n renal carcinoma on chromosome 8 RNF139 + @@ -137221,6 +164265,7 @@ gaa1 glycosylphosphatidylinositol anchor attachment protein 1 GPAA1 + @@ -137245,6 +164290,7 @@ alkyldihydroxyacetonephosphate synthase alkylglycerone-phosphate synthase AGPS + @@ -137269,6 +164315,7 @@ origin recognition complex, subunit 4 origin recognition complex, subunit 4, s. cerevisiae, homolog of ORC4 + @@ -137325,6 +164372,7 @@ kinesin family member 1c ltxs1, mouse, homolog of KIF1C + @@ -137349,6 +164397,7 @@ lysyl hydroxylase 3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 PLOD3 + @@ -137386,6 +164435,7 @@ serine/threonine protein kinase 15 stk6, mouse, homolog of AURKA + @@ -137409,6 +164459,7 @@ zic family, member 2 zinc finger protein of cerebellum 2 ZIC2 + @@ -137417,6 +164468,12 @@ + + + + + + @@ -137460,6 +164517,7 @@ checkpoint kinase 1 checkpoint, s. pombe, homolog of, 1 CHEK1 + @@ -137492,6 +164550,7 @@ asprs dars DARS1 + @@ -137515,6 +164574,7 @@ copper transporter 1 solute carrier family 31 (copper transporter), member 1 SLC31A1 + @@ -137644,6 +164704,7 @@ lpaat-beta lysophosphatidic acid acyltransferase-beta AGPAT2 + @@ -137672,6 +164733,7 @@ kininase 1 serum carboxypeptidase n CPN1 + @@ -137696,6 +164758,7 @@ stromelysin 1 pdgf-responsive element-binding protein transcription factor 20 TCF20 + @@ -137720,6 +164783,7 @@ sma- and mad-related protein 3 smad family member 3 SMAD3 + @@ -137772,6 +164836,7 @@ pp2aa-beta protein phosphatase 2, structural/regulatory subunit a, beta PPP2R1B + @@ -137832,6 +164897,7 @@ DOCK2 dedicator of cytokinesis 2 DOCK2 + @@ -137855,6 +164921,7 @@ dedicator of cytokinesis 3 modifier of cell adhesion DOCK3 + @@ -137878,6 +164945,7 @@ mitochondrial processing peptidase-beta peptidase, mitochondrial processing, beta PMPCB + @@ -137950,6 +165018,7 @@ protein-tyrosine phosphatase, receptor-type, f polypeptide-interacting protein-binding protein 1 ptprf-interacting protein-binding protein 1 PPFIBP1 + @@ -137958,6 +165027,12 @@ + + + + + + @@ -137995,6 +165070,7 @@ atp5d mitochondrial atp synthase, delta subunit ATP5F1D + @@ -138018,6 +165094,7 @@ phosphatase with ezrin domain protein-tyrosine phosphatase, nonreceptor-type, 14 PTPN14 + @@ -138044,6 +165121,7 @@ phosphatidylinositol 3-kinase, regulatory subunit, 85-kd, beta This term has one or more labels that end with ', INCLUDED'. PIK3R2 + @@ -138069,6 +165147,7 @@ ubiquitin-specific protease 8 This term has one or more labels that end with ', INCLUDED'. USP8 + @@ -138198,6 +165277,7 @@ aldehyde dehydrogenase 6 family, member a1 methylmalonate semialdehyde dehydrogenase ALDH6A1 + @@ -138250,6 +165330,7 @@ cyclin-dependent kinase 8 k35 CDK8 + @@ -138291,6 +165372,7 @@ stx5a syntaxin 5 STX5 + @@ -138428,6 +165510,7 @@ caveolae-associated protein 1 cavin CAVIN1 + @@ -138450,6 +165533,7 @@ RFXANK regulatory factor x, ankyrin repeat-containing RFXANK + @@ -138504,6 +165588,7 @@ lactase lactase-phlorizin hydrolase LCT + @@ -138615,6 +165700,7 @@ phakinin phakosin BFSP2 + @@ -138641,6 +165727,7 @@ origin of plasmid DNA replication-binding protein orip-binding protein KIF22 + @@ -138666,6 +165753,7 @@ peroxisomal membrane protein 1-like pmp69 ABCD4 + @@ -138703,6 +165791,7 @@ task1 twik-related acid-sensitive k+ channel KCNK3 + @@ -138727,6 +165816,18 @@ + + + + + + + + + + + + @@ -138802,6 +165903,7 @@ mevalonate pyrophosphate decarboxylase mpd MVD + @@ -138825,6 +165927,7 @@ autocrine motility factor receptor gp78 AMFR + @@ -138885,6 +165988,7 @@ forkhead, drosophila, homolog-like 11 forkhead-related activator 7 FOXL1 + @@ -138986,6 +166090,7 @@ ca 12 carbonic anhydrase 12 CA12 + @@ -139027,6 +166132,7 @@ calpain 15 small optic lobes, drosophila, homolog of CAPN15 + @@ -139147,6 +166253,7 @@ chromodomain helicase dna-binding protein 4 mi2-beta CHD4 + @@ -139155,6 +166262,12 @@ + + + + + + @@ -139210,6 +166323,7 @@ triadin trisk TRDN + @@ -139218,6 +166332,12 @@ + + + + + + @@ -139235,6 +166355,12 @@ + + + + + + @@ -139268,6 +166394,7 @@ kisspeptin metastin KISS1 + @@ -139292,6 +166419,7 @@ pyridoxamine 5-prime-phosphate oxidase pyridoxamine-phosphate oxidase PNPO + @@ -139314,6 +166442,7 @@ KERA keratocan KERA + @@ -139337,6 +166466,7 @@ cortactin-binding protein 1 sh3 and multiple ankyrin repeat domains 2 SHANK2 + @@ -139361,6 +166491,7 @@ mcm3-associated protein, 80-kd minichromosome maintenance 3-associated protein MCM3AP + @@ -139387,6 +166518,7 @@ smad family member 9 smad8 SMAD9 + @@ -139411,6 +166543,7 @@ dynein heavy chain, isotype 1b dynein, cytoplasmic 2, heavy chain 1 DYNC2H1 + @@ -139445,6 +166578,7 @@ tgfb-inducible early growth response 2 transforming growth factor-beta-inducible early growth response 2 KLF11 + @@ -139499,6 +166633,7 @@ cytoskeletal protein, 115-kd filensin BFSP1 + @@ -139524,6 +166659,7 @@ cyclin-dependent kinase 13 kiaa0904 CDK13 + @@ -139549,6 +166685,7 @@ alg10, s. cerevisiae, homolog of, B potassium channel regulator 1 ALG10B + @@ -139665,6 +166802,7 @@ dynein, axonemal, light intermediate chain 1 hl20 DNAH9 + @@ -139689,6 +166827,7 @@ dynein, cytoplasmic 1, intermediate chain 2 ic2 DYNC1I2 + @@ -139743,6 +166882,7 @@ dnahc2 dynein, axonemal, heavy chain 2 DNAH2 + @@ -139766,6 +166906,7 @@ dynein, axonemal, heavy chain 5 hl1 DNAH5 + @@ -139789,6 +166930,7 @@ dynein, axonemal, heavy chain 8 hdhc9 DNAH8 + @@ -139823,6 +166965,7 @@ dynein, axonemal, heavy chain 11 dynein, heavy chain beta-like DNAH11 + @@ -139874,6 +167017,7 @@ solute carrier family 4 (sodium bicarbonate cotransporter), member 5, formerly This term has one or more labels that end with ', INCLUDED'. SLC4A4 + @@ -139899,6 +167043,7 @@ hypoxia-inducible factor 2, alpha subunit member of pas superfamily 2 EPAS1 + @@ -139922,6 +167067,7 @@ membrane-bound transcription factor protease, site 1 site-1 protease MBTPS1 + @@ -139946,6 +167092,7 @@ endolyn sialomucin cd164 CD164 + @@ -139969,6 +167116,7 @@ mesangium-predominant gene serpin peptidase inhibitor, clade B (ovalbumin), member 7 SERPINB7 + @@ -140005,6 +167153,7 @@ nadh-ubiquinone oxidoreductase 1 alpha subcomplex 8 nadh-ubiquinone oxidoreductase subunit a8 NDUFA8 + @@ -140068,6 +167217,7 @@ plstire This term has one or more labels that end with ', INCLUDED'. CDK6 + @@ -140091,6 +167241,7 @@ udp-glucose dehydrogenase udpgdh UGDH + @@ -140200,6 +167351,7 @@ organic cation transporter 2 solute carrier family 22 (organic cation transporter), member 5 SLC22A5 + @@ -140288,6 +167440,12 @@ + + + + + + @@ -140324,6 +167482,7 @@ synaptic ras-gtpase-activating protein, 135-kd, rat, homolog of syngap, p135, rat, homolog of SYNGAP1 + @@ -140347,6 +167506,7 @@ amyloid beta precursor protein-binding protein 1 nedd8-activating enzyme e1, subunit 1 NAE1 + @@ -140372,6 +167532,12 @@ + + + + + + @@ -140486,6 +167652,7 @@ SPAG1 sperm-associated antigen 1 SPAG1 + @@ -140518,6 +167685,7 @@ cellular communication network factor 6 wnt1-inducible signaling pathway protein 3 CCN6 + @@ -140543,6 +167711,7 @@ hps2 gene pearl, mouse, homolog of AP3B1 + @@ -140571,6 +167740,7 @@ mission impossible, zebrafish, homolog of prp8, s. pombe, homolog of DHX16 + @@ -140594,6 +167764,7 @@ frizzled class receptor 6 frizzled, drosophila, homolog of, 6 FZD6 + @@ -140665,6 +167836,7 @@ lim domain protein ril pdz and 51m domain protein 4 PDLIM4 + @@ -140690,6 +167862,7 @@ protein kinase, interferon-inducible double-stranded rna-dependent activator rax PRKRA + @@ -140713,6 +167886,7 @@ period circadian regulator 2 period, drosophila, homolog of, 2 PER2 + @@ -140736,6 +167910,7 @@ period circadian regulator 3 period, drosophila, homolog of, 3 PER3 + @@ -140788,6 +167963,7 @@ dab adaptor protein 1 disabled, drosophila, homolog of, 1 DAB1 + @@ -140850,6 +168026,7 @@ caspase and rip adaptor with death domain rip-associated ich1/ced3-homologous protein with death domain CRADD + @@ -140874,6 +168051,7 @@ dph2, s. cerevisiae, homolog of dph2-like 2 DPH2 + @@ -140926,6 +168104,7 @@ cyclin-dependent kinase 10 pisslre CDK10 + @@ -140951,6 +168130,7 @@ cdc45l2 cell division cycle 45 CDC45 + @@ -140959,6 +168139,12 @@ + + + + + + @@ -141010,6 +168196,7 @@ ass This term has one or more labels that end with ', INCLUDED'. ASS1 + @@ -141054,6 +168241,7 @@ RPS19 ribosomal protein s19 RPS19 + @@ -141088,6 +168276,7 @@ nitrogen fixation gene 1 nitrogen-fixing bacteria s, homolog of NFS1 + @@ -141114,6 +168303,7 @@ cilp1 This term has one or more labels that end with ', INCLUDED'. CILP + @@ -141164,6 +168354,7 @@ IGSF3 immunoglobulin superfamily, member 3 IGSF3 + @@ -141189,6 +168380,7 @@ aurora/ipl1/eg2-2 serine/threonine protein kinase 13 AURKC + @@ -141254,6 +168446,7 @@ dolichyl-phosphate mannosyltransferase 1, catalytic subunit mpd synthase DPM1 + @@ -141277,6 +168470,7 @@ cell division cycle 14, s. cerevisiae, homolog a cell division cycle 14a CDC14A + @@ -141376,6 +168570,12 @@ + + + + + + @@ -141406,6 +168606,12 @@ + + + + + + @@ -141525,6 +168731,7 @@ dph2-like 1 ovarian cancer-associated gene 1 DPH1 + @@ -141577,6 +168784,7 @@ clathrin adaptor protein 19 clathrin-associated/assembly/adaptor protein, small 1 AP1S1 + @@ -141639,6 +168847,7 @@ potassium channel, voltage-gated, kqt-like subfamily, member 4 potassium channel, voltage-gated, subfamily q, member 4 KCNQ4 + @@ -141661,6 +168870,7 @@ CTSF cathepsin f CTSF + @@ -141685,6 +168895,7 @@ gaba-b1 gamma-aminobutyric acid B receptor 1 GABBR1 + @@ -141718,6 +168929,7 @@ cyck cyclin k CCNK + @@ -141735,6 +168947,12 @@ + + + + + + @@ -141785,6 +169003,12 @@ + + + + + + @@ -141852,6 +169076,7 @@ kiaa1073 myotubularin-related protein 2 MTMR2 + @@ -141875,6 +169100,7 @@ myotubularin-related protein 5 set-binding factor 1 SBF1 + @@ -141910,6 +169136,7 @@ dolichol-phosphate mannosyltransferase 2 dolichyl-phosphate mannosyltransferase 2, regulatory subunit DPM2 + @@ -141984,6 +169211,7 @@ nonmetastatic protein 23, homolog 5 radial spoke head 23, chlamydomonas, homolog of NME5 + @@ -142007,6 +169235,7 @@ melastatin 1 transient receptor potential cation channel, subfamily m, member 1 TRPM1 + @@ -142047,6 +169276,12 @@ + + + + + + @@ -142132,6 +169367,12 @@ + + + + + + @@ -142166,6 +169407,7 @@ y(+)l-type amino acid transporter 1 y(+)lat1 SLC7A7 + @@ -142191,6 +169433,7 @@ ox40 antigen ligand tumor necrosis factor ligand superfamily, member 4 TNFSF4 + @@ -142235,6 +169478,7 @@ suppressor of cytokine signaling 1 tec-interacting protein 3 SOCS1 + @@ -142267,6 +169511,7 @@ c2-containing phosphatidylinositol kinase phosphatidylinositol 3-kinase, class 2, alpha PIK3C2A + @@ -142330,6 +169575,7 @@ endothelial monocyte-activating polypeptide 2 small inducible cytokine subfamily e, member 1, formerly AIMP1 + @@ -142356,6 +169602,7 @@ trick2 tumor necrosis factor receptor superfamily, member 10b TNFRSF10B + @@ -142409,6 +169656,7 @@ sodium/calcium/potassium exchanger 1 solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 SLC24A1 + @@ -142433,6 +169681,7 @@ cell division cycle 20, s. cerevisiae, homolog of p55cdc CDC20 + @@ -142459,6 +169708,7 @@ fzr, drosophila, homolog of, 1 kiaa1242 FZR1 + @@ -142537,6 +169787,7 @@ RPS10 ribosomal protein s10 RPS10 + @@ -142559,6 +169810,7 @@ RPS29 ribosomal protein s29 RPS29 + @@ -142581,6 +169833,7 @@ RPL5 ribosomal protein l5 RPL5 + @@ -142603,6 +169856,7 @@ RPL21 ribosomal protein l21 RPL21 + @@ -142626,6 +169880,7 @@ a disintegrin and metalloproteinase domain 17 tumor necrosis factor-alpha converting enzyme ADAM17 + @@ -142679,6 +169934,7 @@ sco1, s. cerevisiae, homolog of synthesis of cytochrome c oxidase 1 SCO1 + @@ -142704,6 +169960,7 @@ pet112, s. cerevisiae, homolog of pet112-like GATB + @@ -142727,6 +169984,7 @@ cox15, s. cerevisiae, homolog of cytochrome c oxidase assembly factor cox15 COX15 + @@ -142786,6 +170044,7 @@ cytochrome c oxidase assembly factor cox11 cytochrome c oxidase copper chaperone cox11 COX11 + @@ -142825,6 +170084,7 @@ BBS5 bbs5 gene BBS5 + @@ -142848,6 +170108,7 @@ transient receptor potential cation channel, subfamily c, member 6 transient receptor potential, drosophila, homolog of, 6 TRPC6 + @@ -142897,6 +170158,7 @@ RPS7 ribosomal protein s7 RPS7 + @@ -142952,6 +170214,7 @@ syn16 syntaxin 16 STX16 + @@ -142976,6 +170239,7 @@ aspartate-glutamate carrier isoform 1, mitochondrial solute carrier family 25 (mitochondrial carrier, aralar), member 12 SLC25A12 + @@ -143055,6 +170319,7 @@ RPS15A ribosomal protein s15a RPS15A + @@ -143155,6 +170420,7 @@ RPS23 ribosomal protein s23 RPS23 + @@ -143177,6 +170443,7 @@ RPS28 ribosomal protein s28 RPS28 + @@ -143200,6 +170467,7 @@ aldehyde dehydrogenase 1 family, member a2 retinaldehyde dehydrogenase 2 ALDH1A2 + @@ -143336,6 +170604,7 @@ golgi-specific brefeldin-a resistance factor 1 kiaa0248 GBF1 + @@ -143360,6 +170629,7 @@ arachidonate 5-lipoxygenase-activating protein five-lipoxygenase-activating protein ALOX5AP + @@ -143382,6 +170652,7 @@ RPS26 ribosomal protein s26 RPS26 + @@ -143405,6 +170676,7 @@ metallopanstimulin 1 ribosomal protein s27 RPS27 + @@ -143427,6 +170699,7 @@ RPL26 ribosomal protein l26 RPL26 + @@ -143452,6 +170725,7 @@ molybdenum cofactor synthesis gene 1 This term has one or more labels that end with ', INCLUDED'. MOCS1 + @@ -143476,6 +170750,7 @@ molybdenum cofactor synthesis gene 2 molybdopterin synthase MOCS2 + @@ -143499,6 +170774,7 @@ a disintegrin and metalloproteinase domain 22 metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2 ADAM22 + @@ -143610,6 +170886,7 @@ claudin 1 senescence-associated epithelial membrane protein 1 CLDN1 + @@ -143618,6 +170895,12 @@ + + + + + + @@ -143699,6 +170982,7 @@ FGF17 fibroblast growth factor 17 FGF17 + @@ -143723,6 +171007,7 @@ glutaminyl-trna synthetase 1 qars QARS1 + @@ -143746,6 +171031,7 @@ sphingosine-1-phosphate lyase 1 spl SGPL1 + @@ -143768,6 +171054,7 @@ IRF3 interferon regulatory factor 3 IRF3 + @@ -143845,6 +171132,7 @@ ALOX12B arachidonate 12-lipoxygenase, r type ALOX12B + @@ -143870,6 +171158,7 @@ apolipoprotein l-i apolipoprotein l1 APOL1 + @@ -143911,6 +171200,7 @@ ubiquitination factor e4a ufd2, s. cerevisiae, homolog of UBE4A + @@ -143934,6 +171224,7 @@ kiaa0359 kinesin family member 3b KIF3B + @@ -143989,6 +171280,7 @@ glutathione s-transferase, zeta-1 maleylacetoacetate isomerase GSTZ1 + @@ -144015,6 +171307,7 @@ prostase protease, serine, 17 KLK4 + @@ -144055,6 +171348,7 @@ cytochrome c oxidase, subunit 5a cytochrome c oxidase, subunit va COX5A + @@ -144148,6 +171442,7 @@ multiple pdz domain protein mupp1 MPDZ + @@ -144220,6 +171515,7 @@ lps-induced tnf-alpha factor small integral membrane protein of lysosome/late endosome LITAF + @@ -144274,6 +171570,7 @@ carbohydrate sulfotransferase 3 chondroitin 6-sulfotransferase CHST3 + @@ -144306,6 +171603,7 @@ transglutaminase 10 transglutaminase 5 TGM5 + @@ -144348,6 +171646,7 @@ thyroid hormone receptor-associated protein 1 thyroid hormone receptor-associated protein, 240-kd MED13 + @@ -144375,6 +171674,7 @@ thyroid hormone receptor-associated protein, 80-kd subunit vitamin d receptor-interacting protein, 80-kd MED17 + @@ -144398,6 +171698,7 @@ barrier-to-autointegration factor barrier-to-autointegration factor 1 BANF1 + @@ -144406,6 +171707,12 @@ + + + + + + @@ -144517,6 +171824,7 @@ retinoid 10 receptor-interacting protein 14 rxr-interacting protein 14 NR1H4 + @@ -144581,6 +171889,7 @@ nadh-ubiquinone oxidoreductase 1 alpha subcomplex, 4 ndufa4 mitochondrial complex associated COXFA4 + @@ -144604,6 +171913,7 @@ nadh-ubiquinone oxidoreductase 1 alpha subcomplex 9 nadh-ubiquinone oxidoreductase subunit a9 NDUFA9 + @@ -144627,6 +171937,7 @@ nadh-ubiquinone oxidoreductase 1 alpha subcomplex 10 nadh-ubiquinone oxidoreductase subunit a10 NDUFA10 + @@ -144650,6 +171961,7 @@ nadh-ubiquinone oxidoreductase 1 beta subcomplex, 3 nadh-ubiquinone oxidoreductase subunit b3 NDUFB3 + @@ -144673,6 +171985,7 @@ nadh-ubiquinone oxidoreductase 1 beta subcomplex, 7 sqm1 nadh-ubiquinone oxidoreductase subunit b7 NDUFB7 + @@ -144696,6 +172009,7 @@ nadh-ubiquinone oxidoreductase 1 beta subcomplex, 10 nadh-ubiquinone oxidoreductase subunit b10 NDUFB10 + @@ -144719,6 +172033,7 @@ nadh-ubiquinone oxidoreductase 1, subunit c2 nadh-ubiquinone oxidoreductase subunit c2 NDUFC2 + @@ -144742,6 +172057,7 @@ complex i, mitochondrial respiratory chain, 30-kd subunit nadh-ubiquinone oxidoreductase fe-s protein 3 NDUFS3 + @@ -144765,6 +172081,7 @@ complex i, mitochondrial respiratory chain, 13-kd subunit nadh-ubiquinone oxidoreductase fe-s protein 6 NDUFS6 + @@ -144868,6 +172185,7 @@ makorin 3 zinc finger protein 127 MKRN3 + @@ -144938,6 +172256,7 @@ ornithine transporter, mitochondrial, 1 solute carrier family 25 (mitochondrial carrier, ornithine transporter), member 15 SLC25A15 + @@ -144961,6 +172280,7 @@ peroxisome biogenesis factor 11b pex11-beta PEX11B + @@ -144985,6 +172305,7 @@ ras-associated protein rab27a ras-related gene from megakaryocyte RAB27A + @@ -145008,6 +172329,7 @@ phospholipase a2-activating protein plap PLAA + @@ -145059,6 +172381,7 @@ bag cochaperone 5 bcl2-associated athanogene 5 BAG5 + @@ -145083,6 +172406,7 @@ timeless circadian regulator timeless, drosophila, homolog of TIMELESS + @@ -145108,6 +172432,7 @@ u5 snrnp-specific protein, 116-kd u5-116kd EFTUD2 + @@ -145116,6 +172441,12 @@ + + + + + + @@ -145150,6 +172481,7 @@ zinc finger protein 259 zpr1 zinc finger protein ZPR1 + @@ -145241,6 +172573,7 @@ eukaryotic translation initiation factor 3, subunit 5, formerly eukaryotic translation initiation factor 3, subunit f EIF3F + @@ -145287,6 +172620,7 @@ atp-specific succinyl-coa synthetase, beta subunit succinate-coa ligase, adp-forming, subunit beta SUCLA2 + @@ -145353,6 +172687,7 @@ kiaa1385 This term has one or more labels that end with ', INCLUDED'. GPHN + @@ -145360,6 +172695,12 @@ + + + + + + @@ -145381,6 +172722,12 @@ + + + + + + @@ -145440,6 +172787,7 @@ bone morphogenetic protein 11 growth/differentiation factor 11 GDF11 + @@ -145464,6 +172812,7 @@ rp1 axonemal microtubule-associated protein rp1 gene RP1 + @@ -145496,6 +172845,7 @@ solute carrier family 19 (thiamine transporter), member 2 thiamine transporter protein 1 SLC19A2 + @@ -145548,6 +172898,7 @@ eukaryotic translation initiation factor 2b, epsilon eukaryotic translation initiation factor 2b, subunit 5 EIF2B5 + @@ -145573,6 +172924,7 @@ proliferation-associated snf2-like gene swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a, member 6 HELLS + @@ -145596,6 +172948,7 @@ potassium channel, calcium-activated, large conductance, subfamily m, beta member 1 slo-beta KCNMB1 + @@ -145620,6 +172973,7 @@ developmentally regulated gtp-binding protein 1 neural precursor cell expressed, developmentally downregulated 3 DRG1 + @@ -145652,6 +173006,7 @@ claudin 16 paracellin 1 CLDN16 + @@ -145674,6 +173029,7 @@ CCIN calicin CCIN + @@ -145699,6 +173055,7 @@ semaphorin 3a semaphorin d SEMA3A + @@ -145721,6 +173078,7 @@ RASGRP1 ras guanyl nucleotide-releasing protein 1 RASGRP1 + @@ -145746,6 +173104,12 @@ + + + + + + @@ -145839,6 +173203,7 @@ polymerase, dna, eta rad30, s. cerevisiae, homolog of, a POLH + @@ -145996,6 +173361,7 @@ yotiao This term has one or more labels that end with ', INCLUDED'. AKAP9 + @@ -146004,6 +173370,12 @@ + + + + + + @@ -146217,6 +173589,7 @@ pancreatic eif2-alpha kinase perk EIF2AK3 + @@ -146240,6 +173613,7 @@ rad50 double-strand break repair protein rad50, s. cerevisiae, homolog of RAD50 + @@ -146264,6 +173638,7 @@ mannose-p-dolichol utilization defect 1 suppressor of lec15 MPDU1 + @@ -146287,6 +173662,7 @@ never 1n mitosis gene a-related kinase 2 nima-related kinase 2 NEK2 + @@ -146332,6 +173708,7 @@ septin 9 sint1 SEPTIN9 + @@ -146354,6 +173731,7 @@ ITGA8 integrin, alpha-8 ITGA8 + @@ -146404,6 +173782,7 @@ RGS9 regulator of g protein signaling 9 RGS9 + @@ -146434,6 +173813,7 @@ ZNF142 zinc finger protein 142 ZNF142 + @@ -146458,6 +173838,7 @@ g-substrate protein phosphatase 1, regulatory subunit 17 PPP1R17 + @@ -146483,6 +173864,7 @@ kiaa0583 placenta and prostate dlg DLG5 + @@ -146531,6 +173913,7 @@ mitotic arrest-deficient 2, s. cerevisiae, homolog-like 2 rev7, s. cerevisiae, homolog of MAD2L2 + @@ -146594,6 +173977,7 @@ glutamate receptor, metabotropic, 6 mglur6 GRM6 + @@ -146617,6 +174001,7 @@ glutamate receptor, metabotropic, 7 mglur7 GRM7 + @@ -146641,6 +174026,7 @@ myotilin titin immunoglobulin domain protein MYOT + @@ -146664,6 +174050,7 @@ scp2 synaptonemal complex protein 2 SYCP2 + @@ -146720,6 +174107,7 @@ interleukin 18-binding protein This term has one or more labels that end with ', INCLUDED'. IL18BP + @@ -146760,6 +174148,7 @@ kcnq1-overlapping transcript 1 long qt intronic transcript 1 KCNQ1OT1 + @@ -146778,6 +174167,12 @@ + + + + + + @@ -146830,6 +174225,7 @@ PIGB phosphatidylinositol glycan anchor biosynthesis class B protein PIGB + @@ -146853,6 +174249,7 @@ h1rna ribonuclease h1 RNASEH1 + @@ -146905,6 +174302,7 @@ SULT2B1 sulfotransferase family 2b, member 1 SULT2B1 + @@ -146927,6 +174325,7 @@ SVIL supervillin SVIL + @@ -146950,6 +174349,7 @@ t-box 15 t-box transcription factor 15 TBX15 + @@ -147009,6 +174409,7 @@ a disintegrin-like and metalloprotease with thrombospondin type 1 motif, 13 von willebrand factor-cleaving protease ADAMTS13 + @@ -147042,6 +174443,7 @@ heat-shock 40-kd protein 3 heat-shock protein, dnaj-like 1 DNAJB2 + @@ -147067,6 +174469,7 @@ brefeldin a-inhibited guanine nucleotide exchange protein 1 p200 ARFGEF1 + @@ -147090,6 +174493,7 @@ dnax-activation protein 12 tyro protein tyrosine kinase-binding protein TYROBP + @@ -147113,6 +174517,7 @@ solute carrier family 7 (cationic amino acid transporter, y+ system), member 9 solute carrier family 7, member 9 SLC7A9 + @@ -147146,6 +174551,7 @@ SGCE sarcoglycan, epsilon SGCE + @@ -147186,6 +174592,7 @@ glycine transporter, type 2 solute carrier family 6 (neurotransmitter transporter, glycine), member 5 SLC6A5 + @@ -147249,6 +174656,7 @@ solute carrier family 20, member 4, formerly solute carrier family 25 (mitochondrial carrier, oxoglutarate carrier), member 11 SLC25A11 + @@ -147272,6 +174680,7 @@ ccctc-binding factor transcriptional repressor ctcf CTCF + @@ -147279,6 +174688,12 @@ + + + + + + @@ -147297,6 +174712,12 @@ + + + + + + @@ -147324,6 +174745,12 @@ + + + + + + @@ -147356,6 +174783,7 @@ RPL15 ribosomal protein l15 RPL15 + @@ -147378,6 +174806,7 @@ RPL11 ribosomal protein l11 RPL11 + @@ -147400,6 +174829,7 @@ RPL18 ribosomal protein l18 RPL18 + @@ -147464,6 +174894,7 @@ selenium-binding protein 1 selenium-binding protein, 56-kd SELENBP1 + @@ -147487,6 +174918,7 @@ organic cation transporter 1 solute carrier family 22 (organic cation transporter), member 4 SLC22A4 + @@ -147519,6 +174951,7 @@ fatty acid transport protein 4 solute carrier family 27 (fatty acid transporter), member 4 SLC27A4 + @@ -147550,6 +174983,7 @@ 5-formyltetrahydrofolate cycloligase MTHFS MTHFS + @@ -147572,6 +175006,7 @@ RAB11B ras-associated protein rab11b RAB11B + @@ -147612,6 +175047,7 @@ SNAP29 synaptosomal-associated protein, 29-kd SNAP29 + @@ -147693,6 +175129,12 @@ + + + + + + @@ -147751,6 +175193,7 @@ napi3b solute carrier family 34 (sodium/phosphate cotransporter), member 2 SLC34A2 + @@ -147758,6 +175201,12 @@ + + + + + + @@ -147776,6 +175225,12 @@ + + + + + + @@ -147813,6 +175268,7 @@ p40-arc p41-arc ARPC1B + @@ -147837,6 +175293,7 @@ actin-related protein 2/3 complex, subunit 4 p20-arc ARPC4 + @@ -147861,6 +175318,7 @@ actin-related protein 2/3 complex, subunit 5 p16-arc ARPC5 + @@ -147940,6 +175398,7 @@ cytokine receptor-like factor 1 nr6 CRLF1 + @@ -147963,6 +175422,7 @@ cas ligand with multiple sh3 domains cd2-associated protein CD2AP + @@ -147985,6 +175445,7 @@ RNF6 ring finger protein 6 RNF6 + @@ -148041,6 +175502,12 @@ + + + + + + @@ -148092,6 +175559,7 @@ lbx1 lbx1h LBX1 + @@ -148125,6 +175593,7 @@ dlc1 rho gtpase activating protein rho gtpase-activating protein 7 DLC1 + @@ -148187,6 +175656,7 @@ autophagy 5, s. cerevisiae, homolog of autophagy-related 5 ATG5 + @@ -148210,6 +175680,7 @@ epidermal growth factor-like 4, formerly multiple epidermal growth factor-like domains 8 MEGF8 + @@ -148234,6 +175705,7 @@ fat tumor suppressor, drosophila, homolog of, 2 multiple epidermal growth factor-like domains 1 FAT2 + @@ -148319,6 +175791,12 @@ + + + + + + @@ -148352,6 +175830,7 @@ spastin spg4 gene SPAST + @@ -148359,6 +175838,12 @@ + + + + + + @@ -148393,6 +175878,7 @@ PLXND1 plexin d1 PLXND1 + @@ -148421,6 +175907,7 @@ superficial zone protein This term has one or more labels that end with ', INCLUDED'. PRG4 + @@ -148455,6 +175942,7 @@ alanine-glyoxylate aminotransferase serine-pyruvate aminotransferase AGXT + @@ -148463,6 +175951,12 @@ + + + + + + @@ -148537,6 +176031,12 @@ + + + + + + @@ -148591,6 +176091,7 @@ VAX1 ventral anterior homeobox 1 VAX1 + @@ -148614,6 +176115,7 @@ glxr glyoxylate reductase/hydroxypyruvate reductase GRHPR + @@ -148668,6 +176170,7 @@ appl dip13-alpha APPL1 + @@ -148686,6 +176189,12 @@ + + + + + + @@ -148717,6 +176226,7 @@ ACTL7A actin-like 7a ACTL7A + @@ -148759,6 +176269,12 @@ + + + + + + @@ -148808,6 +176324,7 @@ pallid, mouse, homolog of pallidin BLOC1S6 + @@ -148862,6 +176379,7 @@ galk gk1 GALK1 + @@ -148908,6 +176426,12 @@ + + + + + + @@ -148975,6 +176499,12 @@ + + + + + + @@ -149050,6 +176580,7 @@ pr55-beta protein phosphatase 2, regulatory subunit b, beta PPP2R2B + @@ -149058,6 +176589,12 @@ + + + + + + @@ -149092,6 +176629,7 @@ xgpt1 xylosylprotein 4-beta-galactosyltransferase, polypeptide 7 B4GALT7 + @@ -149137,6 +176675,7 @@ grb2-related adaptor protein growth factor receptor-bound protein 2-related adaptor protein GRAP + @@ -149162,6 +176701,7 @@ cysteine-rich hydrophobic domain protein 2 This term has one or more labels that end with ', INCLUDED'. CHIC2 + @@ -149253,6 +176793,7 @@ MAN1B1 mannosidase, alpha, class 1b, member 1 MAN1B1 + @@ -149261,6 +176802,12 @@ + + + + + + @@ -149292,6 +176839,7 @@ LAMC3 laminin, gamma-3 LAMC3 + @@ -149312,6 +176860,12 @@ + + + + + + @@ -149344,6 +176898,7 @@ mab21, c. elegans, homolog-like 2 mab21-like 2 MAB21L2 + @@ -149367,6 +176922,7 @@ cohesin subunit sa1 stromal antigen 1 STAG1 + @@ -149486,6 +177042,7 @@ DNAI1 dynein, axonemal, intermediate chain 1 DNAI1 + @@ -149521,6 +177078,7 @@ glycoprotein nmb nmb GPNMB + @@ -149664,6 +177222,7 @@ GFI1B growth factor-independent 1b GFI1B + @@ -149690,6 +177249,7 @@ pmr1, rat, homolog of secretory pathway ca(2+) atpase 1 ATP2C1 + @@ -149770,6 +177330,12 @@ + + + + + + @@ -149908,6 +177474,7 @@ sialyltransferase 9 st3 beta-galactoside alpha-2,3-sialyltransferase 5 ST3GAL5 + @@ -149945,6 +177512,7 @@ GPC6 glypican 6 GPC6 + @@ -149967,6 +177535,7 @@ LETM1 leucine zipper/ef-hand-containing transmembrane protein 1 LETM1 + @@ -149990,6 +177559,12 @@ + + + + + + @@ -150024,6 +177599,7 @@ alf transcription elongation factor 4 all1-fused gene from chromosome 5q31 AFF4 + @@ -150091,6 +177667,7 @@ sodium channel, voltage-gated, type x, alpha subunit sodium voltage-gated channel, alpha subunit 10 SCN10A + @@ -150116,6 +177693,12 @@ + + + + + + @@ -150149,6 +177732,7 @@ mink-related peptide 2 potassium channel, voltage-gated, isk-related subfamily, member 3 KCNE3 + @@ -150174,6 +177758,7 @@ protease, serine, 20 trypsin-like serine protease KLK11 + @@ -150206,6 +177791,7 @@ proline synthetase cotranscribed, bacteria, homolog of pyridoxal phosphate-binding protein PLPBP + @@ -150232,6 +177818,7 @@ solute carrier family 38 (amino acid transporter), member 3 transport system n, protein 1 SLC38A3 + @@ -150254,6 +177841,7 @@ GAB1 grb2-associated binding protein 1 GAB1 + @@ -150339,6 +177927,7 @@ proteasome 26s subunit, non-atpase, 12 rpn5 PSMD12 + @@ -150385,6 +177974,7 @@ sarcosine dehydrogenase sdh SARDH + @@ -150450,6 +178040,7 @@ interleukin 1 receptor-associated kinase 3 interleukin 1 receptor-associated kinase m IRAK3 + @@ -150561,6 +178152,7 @@ otgn otogelin OTOG + @@ -150640,6 +178232,7 @@ SACS sacsin SACS + @@ -150662,6 +178255,7 @@ CBLB cas-br-m murine ecotropic retroviral transforming sequence B CBLB + @@ -150714,6 +178308,7 @@ thyroid hormone receptor interactor 3 zinc finger hit domain-containing protein 3 ZNHIT3 + @@ -150800,6 +178395,7 @@ thyroid hormone receptor interactor 12 ubiquitin ligase for arf TRIP12 + @@ -150853,6 +178449,7 @@ b-cell linker protein sh2 domain-containing leukocyte protein, 65-kd BLNK + @@ -150894,6 +178491,7 @@ 3-hydroxyanthranilic acid dioxygenase HAAO HAAO + @@ -150917,6 +178515,7 @@ cadherin egf lag seven-pass g-type receptor 1 flamingo, drosophila, homolog of, 2 CELSR1 + @@ -150941,6 +178540,7 @@ isocitrate dehydrogenase, nad(+), 3, noncatalytic subunit beta isocitrate dehydrogenase, nad(+)-specific, mitochondrial, beta subunit IDH3B + @@ -150948,6 +178548,12 @@ + + + + + + @@ -150966,6 +178572,12 @@ + + + + + + @@ -150998,6 +178610,7 @@ a disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 2 procollagen 1 n-proteinase ADAMTS2 + @@ -151052,6 +178665,7 @@ nuclear factor of kappa light chain gene enhancer 1n B cells inhibitor-like 2 tonsoku-like DNA repair protein TONSL + @@ -151094,6 +178708,7 @@ heat-shock transcription factor 2-binding protein meiotic localizer of brca2 HSF2BP + @@ -151117,6 +178732,7 @@ dual-specificity tyrosine phosphorylation-regulated kinase 1b minibrain-related kinase DYRK1B + @@ -151166,6 +178782,7 @@ inducible costimulator inducible t-cell costimulator ICOS + @@ -151194,6 +178811,12 @@ + + + + + + @@ -151232,6 +178855,7 @@ alg5, s. cerevisiae, homolog of dolichyl phosphate glucosyltransferase ALG5 + @@ -151255,6 +178879,7 @@ alg6 alpha-1,3-glucosyltransferase alg6, s. cerevisiae, homolog of ALG6 + @@ -151293,6 +178918,12 @@ + + + + + + @@ -151329,6 +178960,7 @@ chromosome 9 open reading frame 4 ferric chelate reductase 1-like FRRS1L + @@ -151354,6 +178986,7 @@ popeye domain-containing protein 1 popeye protein 1 BVES + @@ -151577,6 +179210,7 @@ vacuolar proton pump, alpha subunit 3 This term has one or more labels that end with ', INCLUDED'. TCIRG1 + @@ -151600,6 +179234,7 @@ kinesin family member 5c kinesin, heavy chain, neuron-specific, 2 KIF5C + @@ -151623,6 +179258,7 @@ cysteine-rich interactor of pdz3 cysteine-rich pdz domain-binding protein CRIPT + @@ -151663,6 +179299,7 @@ GRIP1 glutamate receptor-interacting protein 1 GRIP1 + @@ -151686,6 +179323,7 @@ fer1, c. elegans, homolog-like 3 myoferlin MYOF + @@ -151710,6 +179348,7 @@ huel solute carrier family 30 (zinc transporter), member 9 SLC30A9 + @@ -151732,6 +179371,7 @@ HOXB13 homeobox b13 HOXB13 + @@ -151764,6 +179404,7 @@ blm gene recq protein-like 3 RECQL3 + @@ -151788,6 +179429,7 @@ recq protein-like 2 wrn gene RECQL2 + @@ -151811,6 +179453,7 @@ t-box 18 t-box transcription factor 18 TBX18 + @@ -151835,6 +179478,7 @@ t-box factor, pituitary t-box transcription factor 19 TBX19 + @@ -151857,6 +179501,7 @@ TBR1 t-box, brain, 1 TBR1 + @@ -151880,6 +179525,7 @@ epitempin leucine-rich gene, glioma-inactivated, 1 LGI1 + @@ -151912,6 +179558,7 @@ heat-shock 27-kd protein 3 heat-shock protein 27-like protein HSPB3 + @@ -151920,6 +179567,12 @@ + + + + + + @@ -151953,6 +179606,7 @@ enamelysin matrix metalloproteinase 20 MMP20 + @@ -151976,6 +179630,7 @@ nuclear receptor subfamily 0, group b, member 2 small heterodimer partner NR0B2 + @@ -152002,6 +179657,7 @@ vac14 component of pikfyve complex vac14, s. cerevisiae, homolog of VAC14 + @@ -152025,6 +179681,7 @@ egf-containing fibulin-like extracellular matrix protein 2 fibulin 4 EFEMP2 + @@ -152048,6 +179705,7 @@ actinin, alpha-4 actinin-4 ACTN4 + @@ -152072,6 +179730,7 @@ jnk-interacting protein 1 mitogen-activated protein kinase 8-interacting protein 1 MAPK8IP1 + @@ -152094,6 +179753,7 @@ TBCD tubulin-specific chaperone d TBCD + @@ -152119,6 +179779,7 @@ solute carrier family 11 (proton-coupled divalent metal ion transporter), member 3, formerly solute carrier family 40 (iron-regulated transporter), member 1 SLC40A1 + @@ -152144,6 +179805,7 @@ nf-kappa-b-inducing kinase serine/threonine protein kinase nik MAP3K14 + @@ -152206,6 +179868,7 @@ col4a3-binding protein goodpasture antigen-binding protein CERT1 + @@ -152260,6 +179923,7 @@ prostaglandin d2 receptor prostanoid dp receptor PTGDR + @@ -152285,6 +179949,7 @@ fibrous sheath protein, 95-kd sperm oocyte-binding protein 1 AKAP3 + @@ -152348,6 +180013,7 @@ target of myb1 membrane trafficking protein target of myb1, chicken, homolog of TOM1 + @@ -152378,6 +180044,7 @@ MERTK mer tyrosine kinase protooncogene MERTK + @@ -152412,6 +180079,7 @@ latent transforming growth factor-beta-binding protein 4 This term has one or more labels that end with ', INCLUDED'. LTBP4 + @@ -152472,6 +180140,7 @@ tspy-like tspy-like 1 TSPYL1 + @@ -152479,12 +180148,19 @@ + + + + + + + ORSTI irritable heart mitral valve prolapse syndrome neurocirculatory asthenia @@ -152525,6 +180201,7 @@ TFR2 transferrin receptor 2 TFR2 + @@ -152549,6 +180226,7 @@ mitochondrial translation elongation factor ts ts translation elongation factor, mitochondrial TSFM + @@ -152572,6 +180250,7 @@ tub-like protein 3 tubby-like protein 3 TULP3 + @@ -152625,6 +180304,7 @@ actin-interacting protein 1 wd repeat-containing protein 1 WDR1 + @@ -152650,6 +180330,7 @@ delta(4)-3-oxosteroid 5-beta-reductase steroid 5-beta-reductase AKR1D1 + @@ -152699,6 +180380,7 @@ relb protooncogene, nfkb-subunit v-rel avian reticuloendotheliosis viral oncogene homolog B RELB + @@ -152757,6 +180439,7 @@ nphs2 stomatin family member, podocin podocin NPHS2 + @@ -152832,6 +180515,7 @@ ACAD8 acyl-coa dehydrogenase family, member 8 ACAD8 + @@ -152855,6 +180539,7 @@ angiopoietin 5 angiopoietin-like 3 ANGPTL3 + @@ -152878,6 +180563,7 @@ ankyrin-like protein with transmembrane domains 1 transient receptor potential cation channel, subfamily a, member 1 TRPA1 + @@ -152886,6 +180572,12 @@ + + + + + + @@ -152922,6 +180614,7 @@ comparative gene identification 58 ncie2 gene ABHD5 + @@ -152957,6 +180650,7 @@ homer, drosophila, homolog of, 2 This term has one or more labels that end with ', INCLUDED'. HOMER2 + @@ -152998,6 +180692,12 @@ + + + + + + @@ -153040,6 +180740,7 @@ FLRT3 fibronectin-like domain-containing leucine-rich transmembrane protein 3 FLRT3 + @@ -153091,6 +180792,7 @@ poly-u-binding splicing factor, 60-kd siah-binding protein 1 PUF60 + @@ -153114,6 +180816,7 @@ alpha-klotho klotho KL + @@ -153230,6 +180933,7 @@ fk506-binding protein 6 fk506-binding protein, 36-kd FKBP6 + @@ -153270,6 +180974,7 @@ solute carrier family 21 (organic anion transporter), member 6, formerly solute carrier organic anion transporter family, member 1b1 SLCO1B1 + @@ -153292,6 +180997,7 @@ HS2ST1 heparan sulfate 2-o-sulfotransferase 1 HS2ST1 + @@ -153315,6 +181021,7 @@ heparan sulfate 6-o-sulfotransferase 1 hs6st HS6ST1 + @@ -153364,6 +181071,7 @@ SRP54 signal recognition particle, 54-kd SRP54 + @@ -153386,6 +181094,7 @@ SRP68 signal recognition particle, 68-kd SRP68 + @@ -153413,6 +181122,7 @@ paracaspase This term has one or more labels that end with ', INCLUDED'. MALT1 + @@ -153438,6 +181148,7 @@ langerin lectin, c-type, langerhans cell-specific CD207 + @@ -153524,6 +181235,7 @@ eva myelin protein zero-like 2 MPZL2 + @@ -153546,6 +181258,7 @@ MYO9A myosin 9a MYO9A + @@ -153611,6 +181324,7 @@ neurogenin 3 ngn3 NEUROG3 + @@ -153635,6 +181349,7 @@ neurobeachin This term has one or more labels that end with ', INCLUDED'. NBEA + @@ -153721,6 +181436,7 @@ dgat diacylglycerol o-acyltransferase 1 DGAT1 + @@ -153767,6 +181483,7 @@ tbp-associated factor, RNA polymerase iii, 90-kd transcription factor iiib, 90-kd subunit BRF1 + @@ -153774,6 +181491,12 @@ + + + + + + @@ -153837,6 +181560,7 @@ ccr4-not transcription complex, subunit 2 negative regulator of transcription 2, s. cerevisiae, homolog of CNOT2 + @@ -153860,6 +181584,7 @@ ccr4-not transcription complex, subunit 3 negative regulator of transcription 3, s. cerevisiae, homolog of CNOT3 + @@ -153885,6 +181610,7 @@ tata box-binding protein-associated factor 2b tbp-associated factor, RNA polymerase ii, 150-kd TAF2 + @@ -153946,6 +181672,7 @@ piccolo presynaptic cytomatrix protein piccolo, mouse, homolog of PCLO + @@ -154012,6 +181739,7 @@ transcription factor iif-associating ctd phosphatase 1 This term has one or more labels that end with ', INCLUDED'. CTDP1 + @@ -154019,6 +181747,12 @@ + + + + + + @@ -154045,6 +181779,12 @@ + + + + + + @@ -154156,6 +181896,7 @@ solute carrier family 26, member 5 This term has one or more labels that end with ', INCLUDED'. SLC26A5 + @@ -154190,6 +181931,7 @@ phosphodiesterase 11a This term has one or more labels that end with ', INCLUDED'. PDE11A + @@ -154214,6 +181956,7 @@ mammalian sterile 20-like 1 serine/threonine protein kinase 4 STK4 + @@ -154271,6 +182014,7 @@ ficolin 3 hakata antigen FCN3 + @@ -154297,6 +182041,7 @@ sry-related hmg-box gene 5 This term has one or more labels that end with ', INCLUDED'. SOX5 + @@ -154319,6 +182064,7 @@ PRKAG3 protein kinase, amp-activated, noncatalytic, gamma-3 PRKAG3 + @@ -154343,6 +182089,7 @@ rac gtpase-activating protein 1 rac gtpase-activating protein, male germ cell RACGAP1 + @@ -154366,6 +182113,7 @@ formin-binding protein 21 ww domain-containing binding protein 4 WBP4 + @@ -154390,6 +182138,7 @@ hps1 gene pale ear, mouse, homolog of HPS1 + @@ -154505,6 +182254,7 @@ coronin-like protein a tryptophane aspartate-containing coat protein CORO1A + @@ -154528,6 +182278,7 @@ lymphoepithelial kazal-type-related inhibitor serine protease inhibitor, kazal-type, 5 SPINK5 + @@ -154550,6 +182301,7 @@ ADAMTS3 a disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 3 ADAMTS3 + @@ -154576,6 +182328,7 @@ spt16, s. cerevisiae, homolog of suppressor of ty 16, s. cerevisiae, homolog of SUPT16H + @@ -154609,6 +182362,7 @@ STX11 syntaxin 11 STX11 + @@ -154659,6 +182413,12 @@ + + + + + + @@ -154734,6 +182494,7 @@ p21 protein-activated kinase 2 p21-activated kinase, 65-kd PAK2 + @@ -154759,6 +182520,7 @@ integrin, alpha-3 very late activation protein 3 receptor, alpha-3 subunit ITGA3 + @@ -154812,6 +182574,7 @@ sak, mouse, homolog of serine/threonine protein kinase 18 PLK4 + @@ -154836,6 +182599,7 @@ cpx1 synaphin 2 CPLX1 + @@ -154862,6 +182626,7 @@ wasp family, verprolin homology domain-containing protein 1 wasp protein family, member 1 WASF1 + @@ -154924,6 +182689,7 @@ mediator complex subunit 23 sur2 MED23 + @@ -154949,6 +182715,7 @@ mediator complex subunit 27 trap/smcc/pc2 subunit p37 MED27 + @@ -154976,6 +182743,7 @@ irf7a This term has one or more labels that end with ', INCLUDED'. IRF7 + @@ -155026,6 +182794,7 @@ sedoheptulokinase shk SHPK + @@ -155051,6 +182820,7 @@ mitotic kinesin-like 1 zen4, c. elegans, homolog of KIF23 + @@ -155088,6 +182858,7 @@ rgs19-interacting protein 1 synectin GIPC1 + @@ -155112,6 +182883,7 @@ mul gene tripartite motif-containing protein 37 TRIM37 + @@ -155119,6 +182891,12 @@ + + + + + + @@ -155182,6 +182960,7 @@ CNGB3 cyclic nucleotide-gated channel, beta-3 CNGB3 + @@ -155206,6 +182985,7 @@ frizzled-related protein 1 secreted frizzled-related protein 3 FRZB + @@ -155229,6 +183009,7 @@ calcium-binding atopy-related autoantigen 1 mitochondrial calcium uptake protein 1 MICU1 + @@ -155251,6 +183032,7 @@ TREM2 triggering receptor expressed on myeloid cells 2 TREM2 + @@ -155274,6 +183056,7 @@ gpi8, yeast, homolog of phosphatidylinositol glycan anchor biosynthesis class k protein PIGK + @@ -155390,6 +183173,7 @@ tak1/map3k7-binding protein 2 tgf-beta-activated kinase 1/map3k7-binding protein 2 TAB2 + @@ -155414,6 +183198,7 @@ mannan-binding lectin serine protease 2 This term has one or more labels that end with ', INCLUDED'. MASP2 + @@ -155447,6 +183232,7 @@ hect domain and rcc1-like domain 1 p532 HERC1 + @@ -155471,6 +183257,7 @@ s1p receptor 2 sphingosine-1-phosphate receptor 2 S1PR2 + @@ -155493,6 +183280,7 @@ AASS alpha-aminoadipic semialdehyde synthase AASS + @@ -155525,6 +183313,7 @@ bone morphogenetic protein 9 growth/differentiation factor 2 GDF2 + @@ -155550,6 +183339,7 @@ serine peptidase inhibitor, kunitz-type, 2 serine protease inhibitor, kunitz-type, 2 SPINT2 + @@ -155557,6 +183347,12 @@ + + + + + + @@ -155700,6 +183496,7 @@ coiled-coil domain-containing protein 19 nasopharyngeal epithelium-specific protein 1 CFAP45 + @@ -155737,6 +183534,7 @@ pxn vascular peroxidase 1 PXDN + @@ -155770,6 +183568,7 @@ growth arrest-specific 11, formerly growth arrest-specific 8 GAS8 + @@ -155793,6 +183592,7 @@ delta-like 4 delta-like canonical notch ligand 4 DLL4 + @@ -155824,10 +183624,10 @@ CFC1 - cryptic - cryptic protein + cryptic, egf-cfc family member 1 cryptic, mouse, homolog of CFC1 + @@ -155851,6 +183651,7 @@ mesoderm posterior basic helix-loop-helix transcription factor 2 mesoderm posterior protein 2 MESP2 + @@ -155919,6 +183720,7 @@ n-acetylneuraminic acid phosphate synthase sialic acid synthase NANS + @@ -155981,6 +183783,7 @@ adenylyl cyclase, soluble soluble adenylyl cyclase ADCY10 + @@ -156039,6 +183842,7 @@ cytochrome p450, subfamily xxvib, polypeptide 1 p450, retinoic acid-inactivating, 2 CYP26B1 + @@ -156061,6 +183865,7 @@ DISC1 disrupted 1n schizophrenia 1 DISC1 + @@ -156094,6 +183899,7 @@ direct iap-binding protein with low pi second mitochondria-derived activator of caspase DIABLO + @@ -156138,6 +183944,7 @@ atrophin-related protein re repeats-encoding gene RERE + @@ -156237,6 +184044,7 @@ nucleolar protein 3 This term has one or more labels that end with ', INCLUDED'. NOL3 + @@ -156293,6 +184101,7 @@ x receptor xenotropic and polytropic retrovirus receptor XPR1 + @@ -156346,6 +184155,7 @@ atpase, h+ transporting, lysosomal, v0 subunit a, isoform 4 vacuolar protein pump, subunit 2 ATP6V0A4 + @@ -156418,6 +184228,7 @@ p53-induced death domain protein 1 p53-induced protein with death domain PIDD1 + @@ -156499,6 +184310,7 @@ anterior pharynx defective 2, c. elegans, homolog of nicastrin NCSTN + @@ -156522,6 +184334,7 @@ activation-induced cytidine deaminase aid AICDA + @@ -156530,6 +184343,12 @@ + + + + + + @@ -156548,6 +184367,12 @@ + + + + + + @@ -156589,6 +184414,7 @@ nmyc downstream-regulated gene 1 protein regulated by oxygen 1 NDRG1 + @@ -156612,6 +184438,7 @@ jp1 junctophilin 1 JPH1 + @@ -156664,6 +184491,7 @@ jp3 junctophilin 3 JPH3 + @@ -156688,6 +184516,7 @@ n-sulfoglucosamine sulfohydrolase sulfamidase SGSH + @@ -156728,6 +184557,12 @@ + + + + + + @@ -156761,6 +184596,7 @@ mage-like 2 necdin-like 1 MAGEL2 + @@ -156834,6 +184670,7 @@ CAPN10 calpain 10 CAPN10 + @@ -156952,6 +184789,7 @@ corneal glcnac-6-sulfotransferase corneal n-acetylglucosamine-6-sulfotransferase CHST6 + @@ -156995,6 +184833,7 @@ macrophage-inhibiting cytokine 1 prostate-derived factor GDF15 + @@ -157019,6 +184858,7 @@ rna-binding motif protein 8a y14 RBM8A + @@ -157042,6 +184882,7 @@ hdaca histone deacetylase 4 HDAC4 + @@ -157075,6 +184916,7 @@ forkhead box p2 trinucleotide repeat-containing gene 10 FOXP2 + @@ -157115,6 +184957,7 @@ cytochrome p450, subfamily iiia, polypeptide 5 p450pcn3 CYP3A5 + @@ -157216,6 +185059,7 @@ motilin-related peptide This term has one or more labels that end with ', INCLUDED'. GHRL + @@ -157252,6 +185096,7 @@ YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma isoform YWHAG + @@ -157260,6 +185105,12 @@ + + + + + + @@ -157305,6 +185156,7 @@ glutamate decarboxylase 1 glutamate decarboxylase, brain, 67-kd GAD1 + @@ -157389,6 +185241,7 @@ rho gtpase-activating protein 26 This term has one or more labels that end with ', INCLUDED'. ARHGAP26 + @@ -157412,6 +185265,7 @@ adp-ribosylation factor guanine nucleotide exchange factor 2 brefeldin a-inhibited guanine nucleotide exchange protein 2 ARFGEF2 + @@ -157433,6 +185287,12 @@ + + + + + + @@ -157450,6 +185310,12 @@ + + + + + + @@ -157485,6 +185351,7 @@ dystrophia myotonica protein kinase myotonin-protein kinase DMPK + @@ -157510,6 +185377,7 @@ aladin aladin wd repeat nucleoporin AAAS + @@ -157533,6 +185401,7 @@ gan1 gigaxonin GAN + @@ -157594,6 +185463,7 @@ interleukin 21 receptor This term has one or more labels that end with ', INCLUDED'. IL21R + @@ -157616,6 +185486,7 @@ IL21 interleukin 21 IL21 + @@ -157624,6 +185495,12 @@ + + + + + + @@ -157659,6 +185536,12 @@ + + + + + + @@ -157747,6 +185630,7 @@ putative dna/chromatin-binding motif 1 retinoblastoma-binding protein 2, homolog 1a KDM5B + @@ -157770,6 +185654,7 @@ basic leucine zipper transcription factor 2 btb and cnc homology 2 BACH2 + @@ -157795,6 +185680,12 @@ + + + + + + @@ -157872,6 +185763,7 @@ atp-binding cassette, subfamily a, member 7 sjogren syndrome antigen ss-n ABCA7 + @@ -157977,6 +185869,7 @@ connexin 30.3 gap junction protein, beta-4 GJB4 + @@ -158071,6 +185964,12 @@ + + + + + + @@ -158093,6 +185992,12 @@ + + + + + + @@ -158130,6 +186035,7 @@ mitogen-activated protein kinase 8-interacting protein 3 sunday driver, drosophila, homolog of, 2 MAPK8IP3 + @@ -158138,6 +186044,12 @@ + + + + + + @@ -158174,6 +186086,7 @@ protein kinase d protein kinase d1 PRKD1 + @@ -158197,6 +186110,7 @@ pkcl protein kinase c, eta PRKCH + @@ -158225,6 +186139,7 @@ adipose most abundant gene transcript 1 gelatin-binding protein, 28-kd ADIPOQ + @@ -158336,6 +186251,7 @@ atp-binding cassette, subfamily g, member 5 sterolin 1 ABCG5 + @@ -158388,6 +186304,7 @@ il17r interleukin 17 receptor a IL17RA + @@ -158487,6 +186404,7 @@ asp, drosophila, homolog of mcph5 gene ASPM + @@ -158509,6 +186427,7 @@ DNAI2 dynein, axonemal, intermediate chain 2 DNAI2 + @@ -158532,6 +186451,7 @@ vacuolar protein sorting 41, yeast, homolog of vps41 subunit of hops complex VPS41 + @@ -158567,6 +186487,7 @@ intraflagellar transport 81, chlamydomonas, homolog of This term has one or more labels that end with ', INCLUDED'. IFT81 + @@ -158591,6 +186512,7 @@ lon, e. coli, homolog of protease, serine, 15 LONP1 + @@ -158619,6 +186541,7 @@ solute carrier organic anion transporter family, member 1b3 This term has one or more labels that end with ', INCLUDED'. SLCO1B3 + @@ -158643,6 +186566,7 @@ casp leprecan-like 3 CRTAP + @@ -158681,6 +186605,7 @@ interleukin 1 receptor antagonist homolog 1 interleukin 36 receptor antagonist IL36RN + @@ -158708,6 +186633,7 @@ interleukin 1 family, member 7 interleukin 37 IL37 + @@ -158730,6 +186656,7 @@ TMPRSS3 transmembrane protease, serine 3 TMPRSS3 + @@ -158821,6 +186748,7 @@ forkhead box p1 glutamine-rich factor 1 FOXP1 + @@ -158881,6 +186809,7 @@ beta-1,4-glucuronyltransferase 1 i-beta-1,3-n-acetylglucosaminyltransferase B4GAT1 + @@ -158906,6 +186835,7 @@ pah1, s. cerevisiae, homolog of phosphatidic acid phosphohydrolase 1 LPIN1 + @@ -158928,6 +186858,7 @@ LPIN2 lipin 2 LPIN2 + @@ -159002,6 +186933,7 @@ chromatin licensing and DNA replication factor 1 double parked, drosophila, homolog of CDT1 + @@ -159053,6 +186985,7 @@ activating transcription factor 6 activating transcription factor 6, alpha ATF6 + @@ -159108,6 +187041,7 @@ gp 6 platelet glycoprotein 6 GP6 + @@ -159148,6 +187082,7 @@ c-terminal pdz domain ligand of neuronal nitric oxide synthase nitric oxide synthase 1 (neuronal) adaptor protein NOS1AP + @@ -159194,6 +187129,7 @@ natural killer cell receptor 2b4 slam family, member 4 CD244 + @@ -159240,6 +187176,7 @@ SLC4A10 solute carrier family 4 (sodium bicarbonate transporter-like), member 10 SLC4A10 + @@ -159285,6 +187222,7 @@ FGF20 fibroblast growth factor 20 FGF20 + @@ -159362,6 +187300,7 @@ nogo receptor reticulon 4 receptor RTN4R + @@ -159404,6 +187343,7 @@ estradiol 17-beta-dehydrogenase testicular 17-beta-hydroxysteroid dehydrogenase 3 HSD17B3 + @@ -159429,6 +187369,7 @@ cdc25-like gene ras guanyl nucleotide-releasing protein 2 RASGRP2 + @@ -159451,6 +187392,7 @@ IFITM3 interferon-induced transmembrane protein 3 IFITM3 + @@ -159476,6 +187418,12 @@ + + + + + + @@ -159510,6 +187458,7 @@ deah-box polypeptide 38 prp16, s. cerevisiae, homolog of DHX38 + @@ -159534,6 +187483,7 @@ cell division cycle 40, s. cerevisiae, homolog of prp17, s. cerevisiae, homolog of CDC40 + @@ -159587,6 +187537,7 @@ spliceosome-associated protein, 155-kd splicing factor 3b, subunit 1 SF3B1 + @@ -159611,6 +187562,7 @@ spliceosome-associated protein, 145-kd splicing factor 3b, subunit 2 SF3B2 + @@ -159635,6 +187587,7 @@ spliceosome-associated protein, 49-kd splicing factor 3b, subunit 4 SF3B4 + @@ -159718,6 +187671,7 @@ importin 8 ran-binding protein 8 IPO8 + @@ -159741,6 +187695,7 @@ calsarcin 1 myozenin 2 MYOZ2 + @@ -159788,6 +187743,7 @@ CLDN14 claudin 14 CLDN14 + @@ -159810,6 +187766,7 @@ OXR1 oxidation resistance 1 OXR1 + @@ -159888,6 +187845,7 @@ protocadherin 12 ve-cadherin 2 PCDH12 + @@ -159922,6 +187880,7 @@ rho-interacting serine/threonine kinase serine/threonine protein kinase 21 CIT + @@ -159946,6 +187905,7 @@ udp-glcnac transporter udp-n-acetylglucosamine transporter SLC35A3 + @@ -159970,6 +187930,7 @@ cytidine monophosphate-sialic acid transporter solute carrier family 35 (cmp-sialic acid transporter), member 1 SLC35A1 + @@ -159990,6 +187951,12 @@ + + + + + + @@ -160073,6 +188040,7 @@ fbx fbx7 FBXO7 + @@ -160103,6 +188071,7 @@ fbw1b This term has one or more labels that end with ', INCLUDED'. FBXW11 + @@ -160128,6 +188097,7 @@ fbl3 fbl3a FBXL3 + @@ -160151,6 +188121,7 @@ f-box and leucine-rich repeat protein 4 fbl4 FBXL4 + @@ -160175,6 +188146,7 @@ rab6-interacting protein, kinesin-like rabkinesin 6 KIF20A + @@ -160191,6 +188163,12 @@ + + + + + + @@ -160234,6 +188212,7 @@ b-cell translocation gene 4 pc3b BTG4 + @@ -160270,6 +188249,7 @@ acyl-coa synthetase long chain family, member 5 fatty acid coa ligase, long chain 5 ACSL5 + @@ -160302,6 +188282,7 @@ brd4-interacting chromatin remodeling complex-associated protein glioma tumor suppressor candidate region gene 1 BICRA + @@ -160329,6 +188310,7 @@ transient receptor potential-phospholipase c-interacting kinase This term has one or more labels that end with ', INCLUDED'. TRPM7 + @@ -160387,6 +188369,7 @@ salt-inducible kinase 1 snf1-like kinase SIK1 + @@ -160435,6 +188418,12 @@ + + + + + + @@ -160500,6 +188489,7 @@ serine palmitoyltransferase, long-chain base subunit 2 spt2 SPTLC2 + @@ -160538,6 +188528,7 @@ KCNH5 potassium channel, voltage-gated, subfamily h, member 5 KCNH5 + @@ -160564,6 +188555,7 @@ icos ligand inducible t-cell costimulator ligand ICOSLG + @@ -160587,6 +188579,7 @@ potassium channel, subfamily k, member 4 traak KCNK4 + @@ -160610,6 +188603,7 @@ kir5.1 potassium channel, inwardly rectifying, subfamily j, member 16 KCNJ16 + @@ -160758,6 +188752,7 @@ kyphoscoliosis peptidase kyphoscoliosis, mouse, homolog of KY + @@ -160809,6 +188804,7 @@ tubulin, alpha-8 tubulin, alpha-like 2 TUBA8 + @@ -160833,6 +188829,7 @@ melanoma antigen recognized by t cells 2 skinny hedgehog, drosophila, homolog of HHAT + @@ -160859,6 +188856,7 @@ multiple exostoses-like 3 reg protein receptor, rat, homolog of EXTL3 + @@ -160898,6 +188896,7 @@ ldlr adaptor protein 1 low density lipoprotein receptor adaptor protein 1 LDLRAP1 + @@ -160923,6 +188922,7 @@ beta-carotene 15,15-prime-monooxygenase 1 beta-carotene oxygenase 1 BCO1 + @@ -160994,6 +188994,7 @@ downregulated 1n multiple cancers 1 hid1 domain-containing protein 1 HID1 + @@ -161017,6 +189018,7 @@ acrosin-trypsin inhibitor husi-ii serine protease inhibitor, kazal-type, 2 SPINK2 + @@ -161039,6 +189041,7 @@ PIGQ phosphatidylinositol glycan anchor biosynthesis class q protein PIGQ + @@ -161108,6 +189111,7 @@ deleted 1n neuroblastoma 5 solute carrier family 45, member 1 SLC45A1 + @@ -161131,6 +189135,7 @@ traf- and tnf receptor-associated protein tyrosyl-dna phosphodiesterase 2 TDP2 + @@ -161153,6 +189158,7 @@ KLHL3 kelch-like 3 KLHL3 + @@ -161195,6 +189201,7 @@ apc-binding protein rp1 microtubule-associated protein, rp/eb family, member 2 MAPRE2 + @@ -161217,6 +189224,7 @@ TEX14 testis-expressed gene 14 TEX14 + @@ -161241,6 +189249,7 @@ mov10-like 1 mov10-like risc complex RNA helicase 1 MOV10L1 + @@ -161263,6 +189272,7 @@ TEX15 testis-expressed gene 15 TEX15 + @@ -161286,6 +189296,7 @@ amnion-associated transmembrane protein amnionless, mouse, homolog of AMN + @@ -161312,6 +189323,7 @@ zinc finger e box-binding homeobox 2 zinc finger homeobox 1b ZEB2 + @@ -161444,6 +189456,7 @@ NUP62 nucleoporin, 62-kd NUP62 + @@ -161511,6 +189524,7 @@ popeye domain-containing protein 3 popeye protein 3 POPDC3 + @@ -161545,6 +189559,7 @@ ever1 transmembrane channel-like protein 6 TMC6 + @@ -161569,6 +189584,7 @@ ever2 transmembrane channel-like protein 8 TMC8 + @@ -161704,6 +189720,7 @@ CASP14 caspase 14, apoptosis-related cysteine protease CASP14 + @@ -161726,6 +189743,7 @@ DMGDH dimethylglycine dehydrogenase DMGDH + @@ -161733,6 +189751,12 @@ + + + + + + @@ -161776,6 +189800,7 @@ ribitol xylosyltransferase 1 transmembrane protein 5 RXYLT1 + @@ -161836,6 +189861,7 @@ atpase, class i, type 8a, member 2 atpib ATP8A2 + @@ -161868,6 +189894,7 @@ potassium channel, subfamily k, member 9 twik-related acid-sensitive k+ channel 3 KCNK9 + @@ -161895,6 +189922,7 @@ zinc finger- and btb domain-containing protein 7 zinc finger- and btb domain-containing protein 7a ZBTB7A + @@ -161979,6 +190007,7 @@ gdp-fucose transporter 1 solute carrier family 35, member c1 SLC35C1 + @@ -162033,6 +190062,7 @@ DNAH10 dynein, axonemal, heavy chain 10 DNAH10 + @@ -162064,6 +190094,7 @@ endothelin-converting enzyme-like 1 xce ECEL1 + @@ -162072,6 +190103,12 @@ + + + + + + @@ -162143,6 +190180,7 @@ hmat1 hmt1 ALG1 + @@ -162166,6 +190204,7 @@ kiaa0027 modulator of vrac current 1 MLC1 + @@ -162174,6 +190213,12 @@ + + + + + + @@ -162212,6 +190257,7 @@ hepatic fibrinogen/angiopoietin-related protein pparg angiopoietin-related protein ANGPTL4 + @@ -162219,6 +190265,12 @@ + + + + + + @@ -162344,6 +190396,7 @@ pericentrin 2, formerly pericentrin B PCNT + @@ -162393,6 +190446,7 @@ down syndrome critical region gene 5 phosphatidylinositol glycan anchor biosynthesis class p protein PIGP + @@ -162416,6 +190470,7 @@ dermatan sulfate epimerase squamous cell carcinoma antigen recognized by t cells 2 DSE + @@ -162465,6 +190520,7 @@ PIGL phosphatidylinositol glycan anchor biosynthesis class 50 protein PIGL + @@ -162488,6 +190544,7 @@ g protein-coupled receptor, family c, group 5, member B retinoic acid-inducible gene 2 GPRC5B + @@ -162510,6 +190567,7 @@ RAB33B ras-associated protein rab33b RAB33B + @@ -162566,6 +190624,7 @@ nk6, drosophila, homolog of, 2 nkx6.2, mouse, homolog of NKX6-2 + @@ -162634,6 +190693,7 @@ traf-interacting protein trip TRAIP + @@ -162689,6 +190749,7 @@ vacuolar protein sorting 13 homolog a vacuolar protein sorting 13, yeast, homolog of, a VPS13A + @@ -162711,6 +190772,7 @@ UBR1 ubiquitin-protein ligase e3 component n-recognin 1 UBR1 + @@ -162744,6 +190806,7 @@ protein phosphatase 2, 65-kd regulatory subunit a, alpha protein phosphatase 2, structural/regulatory subunit a, alpha PPP2R1A + @@ -162769,6 +190832,7 @@ embryonic ectoderm development protein, mouse, homolog of wd protein associating with integrin cytoplasmic tails 1 EED + @@ -162813,6 +190877,12 @@ + + + + + + @@ -162849,6 +190919,7 @@ pyruvate dehydrogenase phosphatase, catalytic subunit pyruvate dehydrogenase phosphatase, catalytic subunit 1 PDP1 + @@ -162900,6 +190971,7 @@ HAX1 hcls1-associated protein x1 HAX1 + @@ -162924,6 +190996,7 @@ butyrophilin-like protein 2 butyrophilin-like protein, major histocompatibility complex class ii-associated BTNL2 + @@ -162945,6 +191018,12 @@ + + + + + + @@ -162980,6 +191059,7 @@ polymerase iii, rna, subunit k rpc11, s. cerevisiae, homolog of POLR3K + @@ -163019,6 +191099,7 @@ ALX3 aristaless-like homeobox 3 ALX3 + @@ -163043,6 +191124,7 @@ opa-interacting protein 2 ribosomal rna-processing protein 43, s. cerevisiae, homolog of EXOSC8 + @@ -163076,6 +191158,7 @@ zinc finger protein 288 zinc finger- and btb domain-containing protein 20 ZBTB20 + @@ -163099,6 +191182,7 @@ cleavage and polyadenylation specificity factor 1 cleavage-polyadenylation specificity factor, 160-kd subunit CPSF1 + @@ -163122,6 +191206,7 @@ cleavage and polyadenylation specificity factor 3 cleavage-polyadenylation specificity factor, 73-kd subunit CPSF3 + @@ -163147,6 +191232,7 @@ sr-related nuclear matrix protein, 300-kd srl300 SRRM2 + @@ -163172,6 +191258,7 @@ ribonuclease hi, large subunit rnase hi, large subunit RNASEH2A + @@ -163210,6 +191297,7 @@ ARNT2 aryl hydrocarbon receptor nuclear translocator 2 ARNT2 + @@ -163233,6 +191321,7 @@ cd96 antigen t-cell activation antigen, increased late expression CD96 + @@ -163257,6 +191346,7 @@ intraflagellar transport 122, chlamydomonas, homolog of wd repeat-containing protein 10 IFT122 + @@ -163283,6 +191373,7 @@ membrane-bound o-acetyltransferase 7 membrane-bound o-acetyltransferase domain-containing protein 7 MBOAT7 + @@ -163316,6 +191407,12 @@ + + + + + + @@ -163335,6 +191432,18 @@ + + + + + + + + + + + + @@ -163362,6 +191471,12 @@ + + + + + + @@ -163396,6 +191511,7 @@ dnaj/hsp40 homolog, subfamily c, member 12 j domain-containing protein 1 DNAJC12 + @@ -163419,6 +191535,7 @@ t-box 20 t-box transcription factor 20 TBX20 + @@ -163444,6 +191561,7 @@ human chromosome-associated polypeptide structural maintenance of chromosomes 3 SMC3 + @@ -163452,6 +191570,12 @@ + + + + + + @@ -163469,6 +191593,12 @@ + + + + + + @@ -163488,6 +191618,12 @@ + + + + + + @@ -163592,6 +191728,7 @@ myocardin-related transcription factor a This term has one or more labels that end with ', INCLUDED'. MRTFA + @@ -163634,6 +191771,7 @@ polybromo 1 polybromo 1, chicken, homolog of PBRM1 + @@ -163656,6 +191794,7 @@ PIGN phosphatidylinositol glycan anchor biosynthesis class n protein PIGN + @@ -163679,6 +191818,7 @@ adhesion g protein-coupled receptor e2 egf-like module-containing, mucin-like hormone receptor 2 ADGRE2 + @@ -163702,6 +191842,7 @@ phosphatidylinositol 4-phosphate 5-kinase, type i, gamma pip5k1-gamma PIP5K1C + @@ -163735,6 +191876,7 @@ choline transporter-like protein 1 solute carrier family 44, member 1 SLC44A1 + @@ -163761,6 +191903,7 @@ thiamine pyrophosphate transporter tpp transporter SLC44A4 + @@ -163785,6 +191928,7 @@ hps3 cocoa, mouse, homolog of hps3 gene HPS3 + @@ -163810,6 +191954,7 @@ secreted ly6/plaur domain-containing protein 1 secreted ly6/upar-related protein 1 SLURP1 + @@ -163842,6 +191987,7 @@ ring finger protein 27 tripartite motif-containing protein 8 TRIM8 + @@ -163865,6 +192011,7 @@ mycd myocardin MYOCD + @@ -163936,6 +192083,7 @@ RAB23 ras-associated protein rab23 RAB23 + @@ -163959,6 +192107,7 @@ glucose transporter 10 solute carrier family 2 (facilitated glucose transporter), member 10 SLC2A10 + @@ -164010,6 +192159,7 @@ solute carrier family 19 (thiamine transporter), member 3 thiamine transporter 2 SLC19A3 + @@ -164034,6 +192184,7 @@ atp synthase, h+ transporting, mitochondrial f1 complex, epsilon subunit atp5e ATP5F1E + @@ -164075,6 +192226,7 @@ PANK2 pantothenate kinase 2 PANK2 + @@ -164152,6 +192304,7 @@ PANK4 pantothenate kinase 4 PANK4 + @@ -164169,6 +192322,12 @@ + + + + + + @@ -164287,6 +192446,7 @@ polymyositis/scleroderma autoantigen 1 polymyositis/scleroderma autoantigen, 75-kd EXOSC9 + @@ -164352,6 +192512,7 @@ iroquois homeobox protein 5 irxb2 IRX5 + @@ -164376,6 +192537,7 @@ basic helix-loop-helix family, member e41 enhancer of split- and hairy-related protein 1, rat, homolog of BHLHE41 + @@ -164476,6 +192638,7 @@ concentrative nucleoside transporter 1 solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 SLC28A1 + @@ -164500,6 +192663,7 @@ seln sepn1 SELENON + @@ -164524,6 +192688,7 @@ spectrin, beta, nonerythrocytic, 4 spectrin, beta-iv SPTBN4 + @@ -164566,6 +192731,12 @@ + + + + + + @@ -164600,6 +192771,7 @@ ikaros family zinc finger 3 zinc finger protein, subfamily 1a, member 3 IKZF3 + @@ -164625,6 +192797,7 @@ pyrimidine 5-prime-nucleotidase 1 uridine 5-prime monophosphate hydrolase 1 NT5C3A + @@ -164679,6 +192852,7 @@ eukaryotic translation initiation factor 2c, subunit 1 gerp95 AGO1 + @@ -164703,6 +192877,7 @@ argonaute risc component 2 eukaryotic translation initiation factor 2c, subunit 2 AGO2 + @@ -164773,6 +192948,7 @@ tether, containing ubx domain for glut4 This term has one or more labels that end with ', INCLUDED'. ASPSCR1 + @@ -164797,6 +192973,7 @@ pegasus zinc finger protein, subfamily 1a, member 5 IKZF5 + @@ -164884,6 +193061,12 @@ + + + + + + @@ -164920,6 +193103,7 @@ suz12 polycomb repressive complex 2 subunit This term has one or more labels that end with ', INCLUDED'. SUZ12 + @@ -164943,6 +193127,7 @@ associated molecule with the sh3 domain of stam stam-binding protein STAMBP + @@ -165167,6 +193352,7 @@ baff receptor tumor necrosis factor receptor superfamily, member 13c TNFRSF13C + @@ -165247,6 +193433,7 @@ eukaryotic translation initiation factor 2b, gamma eukaryotic translation initiation factor 2b, subunit 3 EIF2B3 + @@ -165283,6 +193470,7 @@ fbxw6 sel10, c. elegans, homolog of FBXW7 + @@ -165332,6 +193520,7 @@ pcdh-gamma-c4 protocadherin-gamma, subfamily c, member 4 PCDHGC4 + @@ -165355,6 +193544,7 @@ cytoplasmic fmrp-interacting protein 2 p53-inducible protein CYFIP2 + @@ -165363,6 +193553,12 @@ + + + + + + @@ -165412,6 +193608,7 @@ sine oculis homeobox, drosophila, homolog of, 6 six homeobox 6 SIX6 + @@ -165449,6 +193646,7 @@ proline/serine/threonine phosphatase-interacting protein 1 pstpip PSTPIP1 + @@ -165498,6 +193696,7 @@ aprataxin flj20157 APTX + @@ -165608,6 +193807,7 @@ anterior gradient 2, protein disulphide isomerase family member anterior gradient 2, xenopus, homolog of AGR2 + @@ -165632,6 +193832,7 @@ acid phosphatase, testicular testicular acid phosphatase ACP4 + @@ -165716,6 +193917,7 @@ thiamine kinase thiamine pyrophosphokinase TPK1 + @@ -165738,6 +193940,7 @@ FMN2 formin 2 FMN2 + @@ -165761,6 +193964,7 @@ beta-1,3-glucuronyltransferase 3 glucuronosyltransferase 1 B3GAT3 + @@ -165794,6 +193998,7 @@ membrane-associated guanylate kinase, ww and pdz domains-containing, 2 synaptic scaffolding molecule MAGI2 + @@ -165819,6 +194024,7 @@ rsp5, s. cerevisiae, homolog of ubiquitin protein ligase nedd4-like NEDD4L + @@ -165842,6 +194048,7 @@ cation channel, sperm-associated, 1 catsper CATSPER1 + @@ -165972,6 +194179,7 @@ itchy e3 ubiquitin protein ligase, mouse, homolog of nfe2-associated polypeptide 1 ITCH + @@ -166025,6 +194233,7 @@ sodium-dependent dicarboxylate transporter 3 solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 SLC13A3 + @@ -166165,6 +194374,7 @@ kiaa0018 selective ad indicator 1 DHCR24 + @@ -166188,6 +194398,7 @@ pre-mrna-processing factor 31 precursor mrna-processing factor 31, s. cerevisiae, homolog of PRPF31 + @@ -166211,6 +194422,7 @@ ced12, c. elegans, homolog of, 2 engulfment and cell motility gene 2 ELMO2 + @@ -166262,6 +194474,12 @@ + + + + + + @@ -166323,6 +194541,7 @@ STRC stereocilin STRC + @@ -166391,6 +194610,7 @@ tr3 trxr2 TXNRD2 + @@ -166433,6 +194653,7 @@ lba lipopolysaccharide-responsive, beige-like anchor protein LRBA + @@ -166457,6 +194678,7 @@ eukaryotic translation initiation factor 2b, beta eukaryotic translation initiation factor 2b, subunit 2 EIF2B2 + @@ -166596,6 +194818,7 @@ hepcidin antimicrobial peptide liver-expressed antimicrobial peptide HAMP + @@ -166620,6 +194843,7 @@ nhp2, s. cerevisiae, homolog of nucleolar protein family a, member 2 NHP2 + @@ -166680,6 +194904,7 @@ cd320 antigen transcobalamin receptor CD320 + @@ -166772,6 +194997,12 @@ + + + + + + @@ -166805,6 +195036,7 @@ exosome component 3 ribosomal rna-processing protein 40, s. cerevisiae, homolog of EXOSC3 + @@ -166828,6 +195060,7 @@ exosome component 5 ribosomal rna-processing protein 46, s. cerevisiae, homolog of EXOSC5 + @@ -166851,6 +195084,7 @@ csl4, s. cerevisiae, homolog of exosome component 1 EXOSC1 + @@ -166906,6 +195140,7 @@ interleukin 17f ml1 IL17F + @@ -166957,6 +195192,7 @@ g6b protein megakaryocyte and platelet inhibitory receptor g6b MPIG6B + @@ -167048,6 +195284,7 @@ slit-robo gtpase-activating protein, rho, 1 slit-robo rho gtpase-activating protein 1 SRGAP1 + @@ -167071,6 +195308,7 @@ melanophilin synaptotagmin-like protein lacking c2 domains a MLPH + @@ -167129,6 +195367,7 @@ cytochrome p450, subfamily xxviia, polypeptide 1 sterol 27-hydroxylase CYP27A1 + @@ -167152,6 +195391,7 @@ secretoglobin, family 3a, member 2 uteroglobin-related protein 1 SCGB3A2 + @@ -167208,6 +195448,7 @@ mef2-interacting transcription repressor protein This term has one or more labels that end with ', INCLUDED'. HDAC9 + @@ -167232,6 +195473,7 @@ mitochondrial elongation factor g2 ribosome-recycling factor 2, mitochondrial GFM2 + @@ -167240,6 +195482,12 @@ + + + + + + @@ -167275,6 +195523,7 @@ fez1, formerly leucine zipper, putative tumor suppressor 1 LZTS1 + @@ -167333,6 +195582,7 @@ flj10173 kiaa1809 BCL11A + @@ -167388,6 +195638,7 @@ myosin light chain kinase 2 myosin light polypeptide kinase, skeletal/cardiac MYLK2 + @@ -167411,6 +195662,7 @@ bbs17 gene leucine zipper transcription factor-like 1 LZTFL1 + @@ -167434,6 +195686,7 @@ frizzled-related protein, human endometrium secreted frizzled-related protein 4 SFRP4 + @@ -167494,6 +195747,12 @@ + + + + + + @@ -167528,6 +195787,7 @@ delta-like 1 delta-like canonical notch ligand 1 DLL1 + @@ -167552,6 +195812,7 @@ kiaa1471 protein-tyrosine phosphatase, nonreceptor-type, 23 PTPN23 + @@ -167784,6 +196045,7 @@ yorkie, drosophila, homolog of This term has one or more labels that end with ', INCLUDED'. YAP1 + @@ -167905,6 +196167,7 @@ intraflagellar transport 57 intraflagellar transport 57, chlamydomonas, homolog of IFT57 + @@ -167929,6 +196192,7 @@ smarca-like protein 1 swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like protein 1 SMARCAL1 + @@ -167952,6 +196216,7 @@ dishevelled-associated activator of morphogenesis 2 kiaa0381 DAAM2 + @@ -167974,6 +196239,7 @@ GNMT glycine n-methyltransferase GNMT + @@ -167999,6 +196265,7 @@ protein regulating synaptic membrane exocytosis 2 rab3a-interacting molecule 2 RIMS2 + @@ -168042,6 +196309,7 @@ specificity protein 7 transcription factor sp7 SP7 + @@ -168067,6 +196335,7 @@ protease, serine, 7 transmembrane protease, serine 15 TMPRSS15 + @@ -168139,6 +196408,7 @@ gfm mitochondrial elongation factor g1 GFM1 + @@ -168221,6 +196491,7 @@ hepatitis a virus cellular receptor 2 t-cell immunoglobulin and mucin domains-containing protein 3 HAVCR2 + @@ -168303,6 +196574,12 @@ + + + + + + @@ -168427,6 +196704,7 @@ beta-ureidopropionase bup1 UPB1 + @@ -168486,6 +196764,7 @@ epithelial calcium channel 2 transient receptor potential cation channel, subfamily v, member 6 TRPV6 + @@ -168513,6 +196792,7 @@ set domain protein 1 This term has one or more labels that end with ', INCLUDED'. NSD1 + @@ -168537,6 +196817,7 @@ hps4 gene light ear, mouse, homolog of HPS4 + @@ -168572,6 +196853,7 @@ eukaryotic translation initiation factor 2b, alpha eukaryotic translation initiation factor 2b, subunit 1 EIF2B1 + @@ -168596,6 +196878,7 @@ eukaryotic translation initiation factor 2b, delta eukaryotic translation initiation factor 2b, subunit 4 EIF2B4 + @@ -168655,6 +196938,7 @@ ring finger and wd repeat domains-containing protein 1 tnf receptor-associated factor 7 TRAF7 + @@ -168691,6 +196975,7 @@ kiaa0791 nucleoporin, 155-kd NUP155 + @@ -168716,6 +197001,7 @@ polycystic kidney and hepatic disease 1 gene polyductin PKHD1 + @@ -168810,6 +197096,7 @@ neurotrypsin protease, serine, 12 PRSS12 + @@ -168852,6 +197139,12 @@ + + + + + + @@ -168948,6 +197241,7 @@ mitogen-activated protein kinase-activated protein kinase 5 p38-regulated/activated kinase MAPKAPK5 + @@ -169031,6 +197325,7 @@ osbp-related protein 2 oxysterol-binding protein-like protein 2 OSBPL2 + @@ -169054,6 +197349,7 @@ tll tolloid-like 1 TLL1 + @@ -169090,6 +197386,7 @@ vascular endothelial zinc finger 1 zinc finger protein 161 VEZF1 + @@ -169152,6 +197449,7 @@ pdi3 peptidylarginine deiminase, type 3 PADI3 + @@ -169175,6 +197473,7 @@ dual oxidase 2 thyroid oxidase 2 DUOX2 + @@ -169206,6 +197505,7 @@ malonyl-coa decarboxylase mcd MLYCD + @@ -169214,6 +197514,12 @@ + + + + + + @@ -169232,6 +197538,12 @@ + + + + + + @@ -169275,6 +197587,7 @@ thyroid peroxidase thyroperoxidase TPO + @@ -169283,6 +197596,12 @@ + + + + + + @@ -169396,6 +197715,7 @@ tkt1 transketolase TKT + @@ -169420,6 +197740,7 @@ c-type lectin-like receptor 1 melanin-sensing c-type lectin receptor CLEC1A + @@ -169505,6 +197826,7 @@ dicarboxylate ion carrier solute carrier family 25 (mitochondrial carrier), member 10 SLC25A10 + @@ -169531,6 +197853,7 @@ st14 transmembrane serine protease matriptase suppression of tumorigenicity 14 ST14 + @@ -169582,6 +197905,7 @@ alpha-glucosidase, acid glucosidase, alpha, acid GAA + @@ -169604,6 +197928,7 @@ FTCD formiminotransferase cyclodeaminase FTCD + @@ -169627,6 +197952,7 @@ interleukin 17 receptor d sef, zebrafish, homolog of IL17RD + @@ -169709,6 +198035,7 @@ aldehyde dehydrogenase, family 4, subfamily a, member 1 pyrroline-5-carboxylate dehydrogenase ALDH4A1 + @@ -169744,6 +198071,7 @@ golgi transport complex 1 golgi transport complex, 90-kd subunit COG5 + @@ -169791,6 +198119,12 @@ + + + + + + @@ -169850,6 +198184,7 @@ kiaa1035 nervous system nuclear protein induced by axotomy AGTPBP1 + @@ -169907,6 +198242,7 @@ lysine-specific methyltransferase 2c myeloid/lymphoid or mixed-lineage leukemia 3 KMT2C + @@ -169974,6 +198310,7 @@ kiaa0203 rb1-inducible coiled-coil 1 RB1CC1 + @@ -170004,6 +198341,12 @@ + + + + + + @@ -170037,6 +198380,7 @@ alms1 centrosome and basal body associated protein kiaa0328 ALMS1 + @@ -170061,6 +198405,7 @@ treacle treacle ribosome biogenesis factor 1 TCOF1 + @@ -170116,6 +198461,12 @@ + + + + + + @@ -170261,6 +198612,7 @@ jam-b junctional adhesion molecule 2 JAM2 + @@ -170284,6 +198636,7 @@ jam-c junctional adhesion molecule 3 JAM3 + @@ -170308,6 +198661,7 @@ hexosaminidase B This term has one or more labels that end with ', INCLUDED'. HEXB + @@ -170395,6 +198749,7 @@ atpase, cu(2+)-transporting, beta polypeptide wnd ATP7B + @@ -170418,6 +198773,7 @@ interleukin 1 receptor-associated kinase 4 ren64 IRAK4 + @@ -170442,6 +198798,7 @@ acyl-coa dehydrogenase, short-chain short-chain acyl-coa dehydrogenase ACADS + @@ -170464,6 +198821,7 @@ SUOX sulfite oxidase SUOX + @@ -170498,6 +198856,7 @@ galactocerebrosidase galactosylceramidase GALC + @@ -170505,6 +198864,12 @@ + + + + + + @@ -170573,6 +198938,7 @@ chs1 gene lysosomal trafficking regulator LYST + @@ -170616,6 +198982,7 @@ mitochondrial ribosomal RNA methyltransferase 2 mitochondrial rrna methyltransferase 2 MRM2 + @@ -170640,6 +199007,7 @@ lag1, s. cerevisiae, homolog of, 1 upstream of gdf1 CERS1 + @@ -170664,6 +199032,7 @@ gpr99 oxoglutarate receptor 1 OXGR1 + @@ -170714,6 +199083,7 @@ p84n5 tho complex, subunit 1 THOC1 + @@ -170783,6 +199153,7 @@ complex 1 intermediate-associated protein 30 nadh-ubiquinone oxidoreductase 1 alpha subcomplex, assembly factor 1 NDUFAF1 + @@ -170843,6 +199214,7 @@ uroiiis uroporphyrinogen 3 synthase UROS + @@ -170934,6 +199306,12 @@ + + + + + + @@ -170988,6 +199366,7 @@ anaphase-promoting complex, subunit 7 apc7 ANAPC7 + @@ -171114,6 +199493,7 @@ WBP2 ww domain-binding protein 2 WBP2 + @@ -171197,6 +199577,7 @@ gem nuclear organelle-associated protein 4 gem-associated protein 4 GEMIN4 + @@ -171257,6 +199638,7 @@ kiaa1381 low density lipoprotein receptor defect b-complementing protein COG1 + @@ -171280,6 +199662,7 @@ component of oligomeric golgi complex 2 low density lipoprotein receptor defect c-complementing protein COG2 + @@ -171303,6 +199686,7 @@ component of oligomeric golgi complex 3 sec34, s. cerevisiae, homolog of COG3 + @@ -171384,6 +199768,7 @@ COG7 component of oligomeric golgi complex 7 COG7 + @@ -171407,6 +199792,7 @@ component of oligomeric golgi complex 8 dor1, s. cerevisiae, homolog of COG8 + @@ -171432,6 +199818,7 @@ coenzyme q8a coq8, s. cerevisiae, homolog of COQ8A + @@ -171455,6 +199842,7 @@ geranylgeranyl diphosphate synthase 1 ggpps GGPS1 + @@ -171491,6 +199879,7 @@ pax6 neighbor gene This term has one or more labels that end with ', INCLUDED'. ELP4 + @@ -171526,6 +199915,7 @@ chp slc9a1 binding protein CHP1 + @@ -171636,6 +200026,7 @@ galactose-1-phosphate uridylyltransferase This term has one or more labels that end with ', INCLUDED'. GALT + @@ -171660,6 +200051,7 @@ euhmtase1 g9a-like protein EHMT1 + @@ -171684,6 +200076,7 @@ pk2 prokineticin 2 PROK2 + @@ -171723,6 +200116,7 @@ gem nuclear organelle-associated protein 5 gem-associated protein 5 GEMIN5 + @@ -171746,6 +200140,7 @@ acyl-coa dehydrogenase, medium-chain medium-chain acyl-coa dehydrogenase ACADM + @@ -171770,6 +200165,7 @@ melastatin-related trp cation channel 6 transient receptor potential cation channel, subfamily m, member 6 TRPM6 + @@ -171794,6 +200190,7 @@ kiaa1689 transcription factor-like nuclear regulator BDP1 + @@ -171925,6 +200322,7 @@ LIAS lipoic acid synthase LIAS + @@ -172000,6 +200398,7 @@ IVD isovaleryl-coa dehydrogenase IVD + @@ -172023,6 +200422,7 @@ enoyl-coa hydratase/3-hydroxyacyl coa dehydrogenase l-bifunctional protein, peroxisomal EHHADH + @@ -172045,6 +200445,7 @@ OTOA otoancorin OTOA + @@ -172053,6 +200454,12 @@ + + + + + + @@ -172109,6 +200516,7 @@ cln3 gene cln3 lysosomal/endosomal transmembrane protein, battenin CLN3 + @@ -172253,6 +200661,7 @@ ubiquitin-specific protease 18 ubiquitin-specific protease, 43-kd USP18 + @@ -172276,6 +200685,7 @@ solute carrier family 39 (zinc transporter), member 4 zip4 SLC39A4 + @@ -172284,6 +200694,12 @@ + + + + + + @@ -172374,6 +200790,7 @@ blu zinc finger mynd domain-containing protein 10 ZMYND10 + @@ -172397,6 +200814,7 @@ hyaluronidase 1 hyaluronoglucosaminidase 1 HYAL1 + @@ -172422,6 +200840,7 @@ npr2l tumor suppressor candidate 4 NPRL2 + @@ -172445,6 +200864,7 @@ fus2 n-alpha-acetyltransferase 80, nath catalytic subunit NAA80 + @@ -172491,6 +200911,7 @@ calcium channel, voltage-dependent, alpha-2/delta subunit 2 kiaa0558 CACNA2D2 + @@ -172678,6 +201099,7 @@ solute carrier family 22 (urate transporter), member 12 urate transporter 1 SLC22A12 + @@ -172891,6 +201313,7 @@ spartin spg20 SPART + @@ -172946,6 +201369,7 @@ microcephalin microcephalin 1 MCPH1 + @@ -172969,6 +201393,7 @@ mitochondrial ribosomal protein l3 mrl3 MRPL3 + @@ -172995,6 +201420,7 @@ phospholipase c, beta-1 This term has one or more labels that end with ', INCLUDED'. PLCB1 + @@ -173027,6 +201453,7 @@ pkr2 prokineticin receptor 2 PROKR2 + @@ -173131,6 +201558,7 @@ hnrpdl jktbp HNRNPDL + @@ -173154,6 +201582,7 @@ faca fanca gene FANCA + @@ -173180,6 +201609,12 @@ + + + + + + @@ -173215,6 +201650,7 @@ asparagine-linked glycosylation 12, homolog of dolichyl-p-mannose:man-7-glcnac-2-pp-dolichyl-alpha-6-mannosyltransferase ALG12 + @@ -173242,6 +201678,7 @@ hps7 gene sandy, mouse, homolog of DTNBP1 + @@ -173258,6 +201695,12 @@ + + + + + + @@ -173334,6 +201777,7 @@ zimp10 zinc finger miz-domain containing 1 ZMIZ1 + @@ -173365,6 +201809,7 @@ LOXL3 lysyl oxidase-like 3 LOXL3 + @@ -173387,6 +201832,7 @@ TSGA10 testis-specific protein 10 TSGA10 + @@ -173448,6 +201894,7 @@ kiaa0765 rna-binding motif protein 12 RBM12 + @@ -173470,6 +201917,7 @@ FYCO1 fyve and coiled-coil domain containing 1 FYCO1 + @@ -173493,6 +201941,7 @@ kiaa0755 sec24-related gene family, member d SEC24D + @@ -173582,6 +202031,7 @@ TDP1 tyrosyl-dna phosphodiesterase 1 TDP1 + @@ -173624,6 +202074,12 @@ + + + + + + @@ -173658,6 +202114,7 @@ heterogeneous nuclear ribonucleoprotein r hnrpr HNRNPR + @@ -173731,6 +202188,7 @@ lipoxygenase type 3, epidermal lox type 3 ALOXE3 + @@ -173798,6 +202256,7 @@ card-maguk protein 3 caspase recruitment domain-containing protein 10 CARD10 + @@ -173886,6 +202345,7 @@ CARD9 caspase recruitment domain-containing protein 9 CARD9 + @@ -173910,6 +202370,7 @@ origin recognition complex, subunit 6 origin recognition complex, subunit 6, s. cerevisiae, homolog of ORC6 + @@ -174018,6 +202479,7 @@ smooth muscle-associated protein 2 sparc-related modular calcium-binding protein 2 SMOC2 + @@ -174059,6 +202521,7 @@ TMIE transmembrane inner ear-expressed gene TMIE + @@ -174098,6 +202561,7 @@ AP4S1 adaptor-related protein complex 4, sigma-1 subunit AP4S1 + @@ -174148,6 +202612,7 @@ AP4B1 adaptor-related protein complex 4, beta-1 subunit AP4B1 + @@ -174173,6 +202638,7 @@ garnet, drosophila, homolog of mocha, mouse, homolog of AP3D1 + @@ -174198,6 +202664,12 @@ + + + + + + @@ -174230,6 +202702,7 @@ tim22, yeast, homolog of translocase of inner mitochondrial membrane 22 TIMM22 + @@ -174288,6 +202761,7 @@ SOX6 sry-box 6 SOX6 + @@ -174312,6 +202786,12 @@ + + + + + + @@ -174382,6 +202862,7 @@ autism susceptibility candidate 2 kiaa0442 AUTS2 + @@ -174452,6 +202933,12 @@ + + + + + + @@ -174515,6 +203002,7 @@ bloc1, subunit 5 muted, mouse, homolog of BLOC1S5 + @@ -174566,6 +203054,7 @@ CLIC5 chloride intracellular channel 5 CLIC5 + @@ -174588,6 +203077,7 @@ MYO18B myosin 18b MYO18B + @@ -174613,6 +203103,7 @@ prpc8 u5 snrnp-specific protein, 220-kd PRPF8 + @@ -174638,6 +203129,7 @@ precursor mrna-processing factor 3, s. cerevisiae, homolog of prp3 PRPF3 + @@ -174687,6 +203179,7 @@ SRD5A2 steroid 5-alpha-reductase 2 SRD5A2 + @@ -174711,6 +203204,7 @@ filip kiaa1275 FILIP1 + @@ -174752,6 +203246,12 @@ + + + + + + @@ -174786,6 +203286,7 @@ CABP2 calcium-binding protein 2 CABP2 + @@ -174802,6 +203303,12 @@ + + + + + + @@ -174895,6 +203402,12 @@ + + + + + + @@ -174930,6 +203443,7 @@ rp9 gene rp9 pre-mrna splicing factor RP9 + @@ -175068,6 +203582,7 @@ kiaa1527 lymphocyte alpha kinase ALPK1 + @@ -175092,6 +203607,7 @@ kiaa0717 rho-related btb domain-containing protein 2 RHOBTB2 + @@ -175131,6 +203647,7 @@ potassium channel, voltage-gated, kqt-like subfamily, member 5 potassium channel, voltage-gated, subfamily q, member 5 KCNQ5 + @@ -175153,6 +203670,7 @@ AIRE autoimmune regulator AIRE + @@ -175289,6 +203807,7 @@ tnf receptor-associated factor 3-interacting protein 1 traf3-interacting protein 1 TRAF3IP1 + @@ -175312,6 +203831,7 @@ translocase of inner mitochondrial membrane 50 translocase of inner mitochondrial membrane 50, yeast, homolog of TIMM50 + @@ -175422,6 +203942,7 @@ mc2 receptor melanocortin 2 receptor MC2R + @@ -175430,6 +203951,12 @@ + + + + + + @@ -175463,6 +203990,7 @@ interferon, lambda-3 interleukin 28b IFNL3 + @@ -175488,6 +204016,7 @@ early b-cell factor 3 This term has one or more labels that end with ', INCLUDED'. EBF3 + @@ -175547,6 +204076,12 @@ + + + + + + @@ -175582,6 +204117,7 @@ sperm-specific thioredoxin 2 thioredoxin domain-containing protein 3 NME8 + @@ -175656,6 +204192,7 @@ kirre-like nephrin family adhesion molecule 1 nephrin-like 1 KIRREL1 + @@ -175683,6 +204220,7 @@ solanesyl diphosphate synthase, mouse, homolog of trans-prenyltransferase PDSS1 + @@ -175721,6 +204259,7 @@ GTPBP2 gtp-binding protein 2 GTPBP2 + @@ -175746,6 +204285,7 @@ eral1a This term has one or more labels that end with ', INCLUDED'. ERAL1 + @@ -175882,6 +204422,12 @@ + + + + + + @@ -175912,6 +204458,12 @@ + + + + + + @@ -175929,6 +204481,12 @@ + + + + + + @@ -175945,6 +204503,12 @@ + + + + + + @@ -176068,6 +204632,7 @@ protein phosphatase 1, regulatory subunit 13-like rela-associated inhibitor PPP1R13L + @@ -176101,6 +204666,7 @@ codanin 1 discs lost, drosophila, homolog of CDAN1 + @@ -176124,6 +204690,7 @@ g protein-coupled receptor 88 striatum-specific g protein-coupled receptor GPR88 + @@ -176147,6 +204714,7 @@ bcas3 microtubule-associated cell migration factor breast carcinoma amplified sequence 3 BCAS3 + @@ -176172,6 +204740,7 @@ yme1, s. cerevisiae, homolog of, 1 yme1l YME1L1 + @@ -176206,6 +204775,7 @@ homogentisate 1,2-dioxygenase homogentisic acid oxidase HGD + @@ -176277,6 +204847,7 @@ APCDD1 apc downregulated 1 APCDD1 + @@ -176309,6 +204880,7 @@ metabolism of cobalamin associated a mmaa gene MMAA + @@ -176328,6 +204900,12 @@ + + + + + + @@ -176354,15 +204932,17 @@ - aphasia, primary progressive + FTD2 + aphasia, primary progressive dementia, hereditary dysphasic disinhibition + frontotemporal dementia 2 frontotemporal dementia with tdp43 inclusions, grn-related frontotemporal dementia, ubiquitin-positive frontotemporal lobar degeneration with tdp43 inclusions, grn-related frontotemporal lobar degeneration with ubiquitin-positive inclusions ftld-tdp, grn-related This term has one or more labels that end with ', INCLUDED'. - frontotemporal lobar degeneration with tdp43 inclusions, grn-related + frontotemporal dementia 2 @@ -176426,6 +205006,7 @@ d-lactate dehydrogenase lactate dehydrogenase d LDHD + @@ -176450,6 +205031,7 @@ ofut1 protein o-fucosyltransferase 1 POFUT1 + @@ -176472,6 +205054,7 @@ PACS1 phosphofurin acidic cluster sorting protein 1 PACS1 + @@ -176604,6 +205187,7 @@ ADAMTS15 a disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 15 ADAMTS15 + @@ -176626,6 +205210,7 @@ ADAMTS17 a disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 17 ADAMTS17 + @@ -176648,6 +205233,7 @@ ADAMTS18 a disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 18 ADAMTS18 + @@ -176670,6 +205256,7 @@ ADAMTS19 a disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 19 ADAMTS19 + @@ -176677,6 +205264,12 @@ + + + + + + @@ -176733,6 +205326,7 @@ kiaa1017 ruby-eye 2, mouse, homolog of HPS5 + @@ -176757,6 +205351,7 @@ hps6 gene ruby-eye, mouse, homolog of HPS6 + @@ -176791,6 +205386,7 @@ RPL27 ribosomal protein l27 RPL27 + @@ -176815,6 +205411,7 @@ roundabout guidance receptor 4 roundabout, drosophila, homolog of, 4 ROBO4 + @@ -176840,6 +205437,7 @@ sers seryl-trna synthetase 1 SARS1 + @@ -176863,6 +205461,7 @@ pibf progesterone-induced blocking factor 1 PIBF1 + @@ -177017,6 +205616,7 @@ leucine-rich ppr motif-containing protein leucine-rich protein, 130-kd LRPPRC + @@ -177041,6 +205641,7 @@ methylsterol monooxygenase 1 sterol c4-methyloxidase-like MSMO1 + @@ -177121,6 +205722,7 @@ solute carrier family 17 (vesicular glutamate cotransporter), member 8 vesicular glutamate transporter 3 SLC17A8 + @@ -177145,6 +205747,7 @@ kiaa0651 rho guanine nucleotide exchange factor 2 ARHGEF2 + @@ -177218,6 +205821,7 @@ laforin This term has one or more labels that end with ', INCLUDED'. EPM2A + @@ -177242,6 +205846,7 @@ metabolism of cobalamin associated B mmab gene MMAB + @@ -177274,6 +205879,7 @@ oxodicarboxylate carrier solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21 SLC25A21 + @@ -177314,6 +205920,7 @@ cerebroside 3-sulfatase cerebroside-sulfatase ARSA + @@ -177422,6 +206029,7 @@ bbs7 gene flj10715 BBS7 + @@ -177446,6 +206054,12 @@ + + + + + + @@ -177535,6 +206149,7 @@ tir domain-containing adaptor inducing interferon-beta tir domain-containing adaptor molecule 1 TICAM1 + @@ -177571,6 +206186,7 @@ kv8.2 potassium channel, voltage-gated, subfamily v, member 2 KCNV2 + @@ -177595,6 +206211,7 @@ ka9 keratin 9, type 1 KRT9 + @@ -177617,6 +206234,7 @@ NUP54 nucleoporin, 54-kd NUP54 + @@ -177698,6 +206316,7 @@ nucleoporin, 160-kd nup120 NUP160 + @@ -177771,6 +206390,7 @@ collectin 10 collectin, liver, 1 COLEC10 + @@ -177795,6 +206415,7 @@ pmk pmkase PMVK + @@ -177826,6 +206447,12 @@ + + + + + + @@ -177845,6 +206472,12 @@ + + + + + + @@ -177861,6 +206494,12 @@ + + + + + + @@ -177925,6 +206564,7 @@ presenilin enhancer 2, c. elegans, homolog of presenilin enhancer, gamma-secretase subunit PSENEN + @@ -177949,6 +206589,7 @@ xanthine oxidase xanthine oxidoreductase XDH + @@ -177992,6 +206633,7 @@ ATXN7 ataxin 7 ATXN7 + @@ -178032,6 +206674,7 @@ retinoic acid-induced gene 1 retinoic acid-inducible 1 RAI1 + @@ -178056,6 +206699,7 @@ fascin, retinal fascin, sea urchin, homolog of, 2 FSCN2 + @@ -178098,6 +206742,7 @@ plasmalemma vesicle protein 1 plasmalemma vesicle-associated protein PLVAP + @@ -178121,6 +206766,7 @@ grey-lethal, mouse, homolog of osteopetrosis-associated transmembrane protein 1 OSTM1 + @@ -178145,6 +206791,7 @@ kiaa1278 serine/threonine protein kinase 36 STK36 + @@ -178199,6 +206846,7 @@ cystathionase cystathionine gamma-lyase CTH + @@ -178240,6 +206888,7 @@ glucosamine-6-sulfatase n-acetylglucosamine-6-sulfatase GNS + @@ -178276,6 +206925,7 @@ catenin, alpha-3 vr22 CTNNA3 + @@ -178300,6 +206950,7 @@ arl6ip kiaa0069 ARL6IP1 + @@ -178322,6 +206973,7 @@ STK33 serine/threonine protein kinase 33 STK33 + @@ -178363,6 +207015,7 @@ cardiotrophin-like cytokine factor 1 clc CLCF1 + @@ -178380,6 +207033,12 @@ + + + + + + @@ -178506,6 +207165,12 @@ + + + + + + @@ -178548,6 +207213,7 @@ sar1a, s. cerevisiae, homolog 2 secretion-associated ras-related gtpase 1b SAR1B + @@ -178581,6 +207247,7 @@ secis-binding protein 2 selenocysteine insertion sequence-binding protein 2 SECISBP2 + @@ -178621,6 +207288,7 @@ ush1 protein network component sans ush1g gene USH1G + @@ -178645,6 +207313,7 @@ myotubularin-related 13 set-binding factor 2 SBF2 + @@ -178669,6 +207338,7 @@ kelch-like 41 sarcosin KLHL41 + @@ -178694,6 +207364,7 @@ kidney ankyrin repeat-containing protein kn motif- and ankyrin repeat domain-containing protein 1 KANK1 + @@ -178729,6 +207400,7 @@ CAMK2B calcium/calmodulin-dependent protein kinase ii-beta CAMK2B + @@ -178767,6 +207439,12 @@ + + + + + + @@ -178900,6 +207578,7 @@ taste receptor, type 2, member 38 transforming growth factor beta-stimulated clone 22 TAS2R38 + @@ -178924,6 +207603,7 @@ uracil-dna glycosylase 2 uracil-dna glycosylase, cyclin-like CCNO + @@ -178981,6 +207661,7 @@ HSD3B7 c27-3-beta-hsd HSD3B7 + @@ -178989,6 +207670,12 @@ + + + + + + @@ -179022,6 +207709,7 @@ sin3 transcription regulator family member a sin3, yeast, homolog of, a SIN3A + @@ -179060,6 +207748,7 @@ mesoderm development lrp chaperone This term has one or more labels that end with ', INCLUDED'. MESD + @@ -179067,6 +207756,12 @@ + + + + + + @@ -179124,6 +207819,7 @@ MCFD2 multiple coagulation factor deficiency protein 2 MCFD2 + @@ -179161,6 +207857,7 @@ pre-mrna-processing factor 4 precursor mrna-processing factor 4, s. cerevisiae, homolog of PRPF4 + @@ -179251,6 +207948,7 @@ cyclin m4 kiaa1592 CNNM4 + @@ -179277,6 +207975,7 @@ mitochondrial acetoacetyl-coa thiolase t2 ACAT1 + @@ -179284,6 +207983,12 @@ + + + + + + @@ -179318,6 +208023,7 @@ rgs9 anchor protein rgs9-binding protein RGS9BP + @@ -179343,6 +208049,7 @@ vacuolar protein sorting 13 homolog B vacuolar protein sorting 13, yeast, homolog of, B VPS13B + @@ -179369,6 +208076,7 @@ zinc finger protein 365 This term has one or more labels that end with ', INCLUDED'. ZNF365 + @@ -179442,6 +208150,7 @@ fraser extracellular matrix complex subunit 1 kiaa1500 FRAS1 + @@ -179450,6 +208159,12 @@ + + + + + + @@ -179471,6 +208186,12 @@ + + + + + + @@ -179499,6 +208220,12 @@ + + + + + + @@ -179562,6 +208289,7 @@ gnptag n-acetylglucosamine-1-phosphotransferase, gamma subunit GNPTG + @@ -179648,6 +208376,12 @@ + + + + + + @@ -179681,6 +208415,7 @@ fibrocystin-l pkhd1-like 1 PKHD1L1 + @@ -179740,6 +208475,7 @@ retinal reductase 1 retinol dehydrogenase 11 RDH11 + @@ -179875,6 +208611,7 @@ yy1 associated protein 1 yy1-associated protein YY1AP1 + @@ -179900,6 +208637,7 @@ dapper1 frodo DACT1 + @@ -179933,6 +208671,7 @@ gdp/gtp exchange factor-like protein rcc1 domain- and btb domain-containing protein 1 RCBTB1 + @@ -179958,6 +208697,7 @@ protein arginine methyltransferase 9 vitiligo-associated protein 1 FBXO11 + @@ -179997,6 +208737,7 @@ inositol polyphosphate-5-phosphatase k skeletal muscle- and kidney-enriched inositol phosphatase INPP5K + @@ -180005,6 +208746,12 @@ + + + + + + @@ -180039,6 +208786,7 @@ NNT nicotinamide nucleotide transhydrogenase NNT + @@ -180063,6 +208811,7 @@ kiaa0919 sec15, s. cerevisiae, homolog of, B EXOC6B + @@ -180092,6 +208841,7 @@ riboflavin transporter 3 solute carrier family 52 (riboflavin transporter), member 2 SLC52A2 + @@ -180120,6 +208870,7 @@ riboflavin transporter 1 solute carrier family 52 (riboflavin transporter), member 1 SLC52A1 + @@ -180142,6 +208893,7 @@ DSG4 desmoglein 4 DSG4 + @@ -180184,6 +208936,7 @@ kindlin 1 unc112-related protein 1 FERMT1 + @@ -180210,6 +208963,7 @@ mig2b unc112-related protein 2 FERMT3 + @@ -180233,6 +208987,7 @@ rna, u transporter 1 snurportin 1 SNUPN + @@ -180241,6 +208996,12 @@ + + + + + + @@ -180358,6 +209119,7 @@ lim zinc finger domain-containing protein 2 particularly interesting new cys-his protein 2 LIMS2 + @@ -180382,6 +209144,7 @@ selenoprotein 1 seli SELENOI + @@ -180399,6 +209162,12 @@ + + + + + + @@ -180493,6 +209262,7 @@ mgc4607 osmosensing scaffold for mekk3 CCM2 + @@ -180515,6 +209285,12 @@ + + + + + + @@ -180550,6 +209326,7 @@ fgly-generating enzyme sulfatase-modifying factor 1 SUMF1 + @@ -180569,6 +209346,12 @@ + + + + + + @@ -180634,6 +209417,7 @@ testes-specific protein 57 translokin CEP57 + @@ -180766,6 +209550,7 @@ parathyroid hormone-responsive b1 gene pth-responsive b1 gene parathyroid hormone-responsive b1 gene + @@ -180791,6 +209576,7 @@ cytochrome c oxidase, subunit 4i2 cytochrome c oxidase, subunit iv, isoform 2 COX4I2 + @@ -180815,6 +209601,7 @@ translocase of outer mitochondrial membrane 7 translocase of outer mitochondrial membrane 7, yeast, homolog of TOMM7 + @@ -180839,6 +209626,7 @@ scy1, s. cerevisiae, homolog of, 1 scy1-like 1 SCYL1 + @@ -180863,6 +209651,7 @@ ntkl-binding protein 1 scyl1-binding protein 1 GORAB + @@ -180886,6 +209675,7 @@ sprouty rtk signaling antagonist 4 sprouty, drosophila, homolog of, 4 SPRY4 + @@ -180942,6 +209732,7 @@ kiaa1420 lysine-specific methyltransferase 2h ASH1L + @@ -180966,6 +209757,7 @@ nat1, s. cerevisiae, homolog of nmda receptor-regulated 1 NAA15 + @@ -181032,6 +209824,7 @@ sil1 nucleotide exchange factor sil1, s. cerevisiae, homolog of SIL1 + @@ -181055,6 +209848,7 @@ leiomodin 2 leiomodin, cardiac LMOD2 + @@ -181127,6 +209921,12 @@ + + + + + + @@ -181190,6 +209990,12 @@ + + + + + + @@ -181274,6 +210080,12 @@ + + + + + + @@ -181307,6 +210119,7 @@ aminoacylase 2 aspartoacylase ASPA + @@ -181408,6 +210221,7 @@ anthrax toxin receptor 2 capillary morphogenesis gene 2 ANTXR2 + @@ -181440,6 +210254,7 @@ UBE3B ubiquitin-protein ligase e3b UBE3B + @@ -181490,6 +210305,7 @@ ETFA electron transfer flavoprotein, alpha polypeptide ETFA + @@ -181522,6 +210338,7 @@ hairy/enhancer of split, drosophila, homolog of, 7 hes family bhlh transcription factor 7 HES7 + @@ -181568,6 +210385,7 @@ malin nhl repeat-containing protein 1 NHLRC1 + @@ -181594,6 +210412,7 @@ pdcd6-interacting protein programmed cell death 6-interacting protein PDCD6IP + @@ -181616,6 +210435,7 @@ PLCZ1 phospholipase c, zeta-1 PLCZ1 + @@ -181661,6 +210481,7 @@ APOC2 apolipoprotein c-ii APOC2 + @@ -181686,6 +210507,7 @@ immunity-associated nucleotide 4-like 1 immunity-associated protein 3 GIMAP5 + @@ -181749,6 +210571,7 @@ palladin, cytoskeletal-associated protein palladin, mouse, homolog of PALLD + @@ -181784,6 +210607,7 @@ mgc3180 sodium channel modifier 1 SCNM1 + @@ -181810,6 +210634,12 @@ + + + + + + @@ -181847,6 +210677,12 @@ + + + + + + @@ -181884,6 +210720,7 @@ nfu1 iron-sulfur cluster scaffold nfu1, s. cerevisiae, homolog of NFU1 + @@ -181907,6 +210744,7 @@ cln5 gene cln5 intracellular trafficking protein CLN5 + @@ -181968,6 +210806,12 @@ + + + + + + @@ -182037,6 +210881,7 @@ PUS1 pseudouridine synthase 1 PUS1 + @@ -182061,6 +210906,7 @@ fanconi anemia-associated polypeptide, 43-kd phd finger protein 9 FANCL + @@ -182086,6 +210932,7 @@ ogt-interacting protein, 106-kd trafficking protein, kinesin-binding 1 TRAK1 + @@ -182104,6 +210951,12 @@ + + + + + + @@ -182207,6 +211060,7 @@ nuak family, snf1-like kinase, 2 snf1/ampk-related protein kinase NUAK2 + @@ -182245,6 +211099,12 @@ + + + + + + @@ -182309,6 +211169,7 @@ kiaa0294 rho guanine nucleotide exchange factor 10 ARHGEF10 + @@ -182333,6 +211194,7 @@ nasal embryonic luteinizing hormone-releasing hormone factor nmda receptor synaptonuclear signaling and neuronal migration factor NSMF + @@ -182357,6 +211219,7 @@ hscb mitochondrial iron-sulfur cluster cochaperone jac1, s. cerevisiae, homolog of HSCB + @@ -182380,6 +211243,7 @@ nipa magnesium transporter 1 nonimprinted gene 1n prader-willi syndrome/angelman syndrome chromosome region 1 NIPA1 + @@ -182403,6 +211267,7 @@ kiaa1034 special at-rich sequence-binding protein 2 SATB2 + @@ -182569,6 +211434,7 @@ exocyst complex component 7 kiaa1067 EXOC7 + @@ -182623,6 +211489,7 @@ dead-box helicase 41 dead/h-box 41 DDX41 + @@ -182645,6 +211512,7 @@ CACNA2D4 calcium channel, voltage-dependent, alpha-2/delta subunit 4 CACNA2D4 + @@ -182715,6 +211583,12 @@ + + + + + + @@ -182794,6 +211668,7 @@ caytaxin kiaa1872 ATCAY + @@ -182829,6 +211704,7 @@ maspardin spg21 gene ACP33 + @@ -182854,6 +211730,7 @@ chondroitin synthase 1 kiaa0990 CHSY1 + @@ -182888,6 +211765,7 @@ MCM8 minichromosome maintenance complex component 8 MCM8 + @@ -182912,6 +211790,7 @@ chromosome 20 open reading frame 155 gcd10, s. cerevisiae, homolog of CRLS1 + @@ -182957,6 +211836,7 @@ centrosomal protein, 215-kd kiaa1633 CDK5RAP2 + @@ -182992,6 +211872,7 @@ unc93 homolog b1, tlr signaling regulator unc93, c. elegans, homolog of, b1 UNC93B1 + @@ -183224,6 +212105,7 @@ adenylosuccinase adenylosuccinate lyase ADSL + @@ -183243,6 +212125,12 @@ + + + + + + @@ -183276,6 +212164,7 @@ nanos, drosophila, homolog of, 1 nos1 NANOS1 + @@ -183308,6 +212197,7 @@ calcium channel, voltage-dependent, t type, alpha-1i subunit kiaa1120 CACNA1I + @@ -183330,6 +212220,12 @@ + + + + + + @@ -183346,6 +212242,12 @@ + + + + + + @@ -183379,6 +212281,7 @@ signal peptide peptidase-like 2a spp-like 2a SPPL2A + @@ -183401,6 +212304,7 @@ SNIP1 smad nuclear interacting protein 1 SNIP1 + @@ -183427,6 +212331,7 @@ nse3 nse3 homolog, smc5-smc6 complex component NSMCE3 + @@ -183470,6 +212375,7 @@ keratin 6, inner root sheath, 1 keratin 71, type 2 KRT71 + @@ -183579,6 +212485,7 @@ dipeptidyl peptidase 9 dipeptidyl peptidase iv-related protein 2 DPP9 + @@ -183604,6 +212511,12 @@ + + + + + + @@ -183646,6 +212559,7 @@ ragc ras-related gtp-binding protein c RRAGC + @@ -183669,6 +212583,7 @@ ragd ras-related gtp-binding protein d RRAGD + @@ -183693,6 +212608,7 @@ taspase 1 threonine aspartase 1 TASP1 + @@ -183719,6 +212635,7 @@ microtubule-actin cross-linking factor 1 trabeculin-alpha MACF1 + @@ -183817,6 +212734,7 @@ NADSYN1 nad synthetase 1 NADSYN1 + @@ -183840,6 +212758,7 @@ igf2 mrna-binding protein 2 insulin-like growth factor 2 mrna-binding protein 2 IGF2BP2 + @@ -183872,6 +212791,7 @@ FIBP fibroblast growth factor, acidic, intracellular binding protein FIBP + @@ -183904,6 +212824,7 @@ NAGS n-acetylglutamate synthase NAGS + @@ -183926,6 +212847,7 @@ LGI3 leucine-rich gene, glioma-inactivated, 3 LGI3 + @@ -183948,6 +212870,7 @@ LGI4 leucine-rich gene, glioma-inactivated, 4 LGI4 + @@ -183971,6 +212894,7 @@ sodium-coupled citrate transporter solute carrier family 13 (sodium-dependent citrate transporter), member 5 SLC13A5 + @@ -184022,6 +212946,7 @@ pten-induced kinase 1 pten-induced putative kinase 1 PINK1 + @@ -184045,6 +212970,7 @@ argininosuccinase argininosuccinate lyase ASL + @@ -184068,6 +212994,7 @@ arginase 1 arginase, liver ARG1 + @@ -184111,6 +213038,7 @@ sister of mgr transcription factor cp2-like 4 GRHL3 + @@ -184142,6 +213070,12 @@ + + + + + + @@ -184189,6 +213123,7 @@ kiaa1696 phd finger protein 21a PHF21A + @@ -184331,6 +213266,7 @@ l-xylulose reductase p34h DCXR + @@ -184354,6 +213290,7 @@ bckd, e1-alpha subunit branched-chain keto acid dehydrogenase e1, alpha polypeptide BCKDHA + @@ -184417,6 +213354,7 @@ lrrc8 swell1 LRRC8A + @@ -184467,6 +213405,7 @@ lim domain and actin-binding protein 1 sterol regulatory element-binding protein 3 LIMA1 + @@ -184509,6 +213448,7 @@ fatty acid desaturase 4 stearoyl-coa desaturase 5 SCD5 + @@ -184568,6 +213508,7 @@ hemojuvelin bmp coreceptor hfe2 HJV + @@ -184617,6 +213558,7 @@ ny-co-1 serologically defined colon cancer antigen 1 NEMF + @@ -184625,6 +213567,12 @@ + + + + + + @@ -184656,6 +213604,7 @@ CERKL ceramide kinase-like CERKL + @@ -184681,6 +213630,7 @@ dihydropyrimidinase-like 5 ulip6 DPYSL5 + @@ -184805,6 +213755,7 @@ sodium/hydrogen exchanger 9 solute carrier family 9 (sodium/hydrogen exchanger), member 9 SLC9A9 + @@ -184897,6 +213848,7 @@ phospholipase c, epsilon-1 plce PLCE1 + @@ -184905,6 +213857,12 @@ + + + + + + @@ -184937,6 +213895,7 @@ MMP21 matrix metalloproteinase 21 MMP21 + @@ -184960,6 +213919,7 @@ methylmalonyl-coa epimerase methylmalonyl-coa racemase MCEE + @@ -184983,6 +213943,7 @@ pannexin 1 px1 PANX1 + @@ -184991,6 +213952,12 @@ + + + + + + @@ -185023,6 +213990,7 @@ CYP26C1 cytochrome p450, subfamily xxvic, polypeptide 1 CYP26C1 + @@ -185047,6 +214015,7 @@ dermatan-4-sulfotransferase 1 n-acetylgalactosamine 4-0 sulfotransferase CHST14 + @@ -185081,6 +214050,7 @@ zinc finger protein 238 zinc finger- and btb domain-containing protein 18 ZBTB18 + @@ -185104,6 +214074,7 @@ muscle ras viral oncogene homolog related ras viral oncogene homolog 3 MRAS + @@ -185143,6 +214114,7 @@ protein kinase, ubiquitous-alpha tousled-like kinase 2 TLK2 + @@ -185213,6 +214185,7 @@ spectrin repeat-containing nuclear envelope protein 2 synaptic nuclear envelope protein 2 SYNE2 + @@ -185221,6 +214194,12 @@ + + + + + + @@ -185254,6 +214233,7 @@ lysine-specific methyltransferase 2e myeloid/lymphoid or mixed-lineage leukemia 5 KMT2E + @@ -185277,6 +214257,48 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + @@ -185383,6 +214405,7 @@ ethe1 persulfide dioxygenase hepatoma subtracted clone one ETHE1 + @@ -185415,6 +214438,7 @@ glycogen phosphorylase, muscle myophosphorylase PYGM + @@ -185452,6 +214476,7 @@ neurochondrin norbin NCDN + @@ -185475,6 +214500,7 @@ collagen, type xxvii, alpha-1 kiaa1870 COL27A1 + @@ -185568,6 +214594,7 @@ anaphase-promoting complex, subunit 1 apc1 ANAPC1 + @@ -185608,6 +214635,7 @@ solute carrier family 26 (sulfate transporter), member 8 testis anion transporter 1 SLC26A8 + @@ -185641,6 +214669,7 @@ secreted modular calcium-binding protein 1 sparc-related modular calcium-binding 1 SMOC1 + @@ -185696,6 +214725,7 @@ zona pellucida-binding protein zpbp1 ZPBP + @@ -185722,6 +214752,7 @@ prickle-like 1 rest-interacting 51m domain protein PRICKLE1 + @@ -185797,6 +214828,7 @@ cytochrome b(558), alpha subunit p22-phox CYBA + @@ -185830,6 +214862,7 @@ noxo2 p47-phox NCF1 + @@ -185854,6 +214887,7 @@ noxa2 p67-phox NCF2 + @@ -185861,6 +214895,12 @@ + + + + + + @@ -185976,6 +215016,7 @@ cell division cycle 91, s. cerevisiae, homolog-like 1 phosphatidylinositol glycan anchor biosynthesis class u protein PIGU + @@ -186001,6 +215042,7 @@ more than blood, mouse, homolog of non-smc condensin 2 complex subunit g2 NCAPG2 + @@ -186025,6 +215067,7 @@ fbx38 modulator of klf7 activity, mouse, homolog of FBXO38 + @@ -186048,6 +215091,7 @@ gtp-binding protein 3 mss1, s. cerevisiae, homolog of GTPBP3 + @@ -186111,6 +215155,7 @@ gli-similar protein 2 glis family zinc finger protein 2 GLIS2 + @@ -186119,6 +215164,12 @@ + + + + + + @@ -186211,6 +215262,7 @@ nuclear matrix protein 265 nuk34 EIF4A3 + @@ -186265,6 +215317,7 @@ fibulin 6 hemicentin HMCN1 + @@ -186317,6 +215370,7 @@ vacuolar protein sorting 16, yeast, homolog of vps16 core subunit of corvet and hops complexes VPS16 + @@ -186385,6 +215439,7 @@ MTX2 metaxin 2 MTX2 + @@ -186468,6 +215523,7 @@ ms-1 antigen stabilin 1 STAB1 + @@ -186503,6 +215559,12 @@ + + + + + + @@ -186586,6 +215648,12 @@ + + + + + + @@ -186657,6 +215725,12 @@ + + + + + + @@ -186732,6 +215806,12 @@ + + + + + + @@ -186809,6 +215889,7 @@ complement factor h-related 5 factor h-related gene 5 CFHR5 + @@ -186817,6 +215898,12 @@ + + + + + + @@ -186855,6 +215942,7 @@ pgr14 vasopressin receptor-related receptor 1 NPSR1 + @@ -186890,6 +215978,7 @@ cancer-related gene, liver, 2 gliomedin GLDN + @@ -186915,6 +216004,7 @@ source of immunodominant mhc-associated peptides stt3, s. cerevisiae, homolog of, B STT3B + @@ -186922,6 +216012,12 @@ + + + + + + @@ -186967,6 +216063,7 @@ kruppel-like factor 14 transcription factor sp6 SP6 + @@ -186989,6 +216086,7 @@ CYP4V2 cytochrome p450, family 4, subfamily v, polypeptide 2 CYP4V2 + @@ -187027,6 +216125,7 @@ obscurin This term has one or more labels that end with ', INCLUDED'. OBSCN + @@ -187043,6 +216142,12 @@ + + + + + + @@ -187092,6 +216197,7 @@ bcl2 inhibitor of transcription 1 peptidyl-trna hydrolase 2 PTRH2 + @@ -187116,6 +216222,7 @@ ste20-related adaptor protein ste20-related kinase adaptor alpha STRADA + @@ -187167,6 +216274,12 @@ + + + + + + @@ -187200,6 +216313,7 @@ roundabout guidance receptor 3 roundabout, drosophila, homolog of, 3 ROBO3 + @@ -187312,6 +216426,12 @@ + + + + + + @@ -187332,6 +216452,12 @@ + + + + + + @@ -187385,6 +216511,12 @@ + + + + + + @@ -187418,6 +216550,7 @@ sec63 homolog, protein translocation regulator sec63, s. cerevisiae, homolog of SEC63 + @@ -187425,6 +216558,12 @@ + + + + + + @@ -187460,6 +216599,12 @@ + + + + + + @@ -187479,6 +216624,12 @@ + + + + + + @@ -187582,6 +216733,7 @@ anoctamin 6 transmembrane protein 16f ANO6 + @@ -187616,6 +216768,7 @@ psmc3-interacting protein tbp1-interacting protein PSMC3IP + @@ -187670,6 +216823,7 @@ nipped-b-like sister chromatid cohesion 2, s. cerevisiae, homolog of NIPBL + @@ -187695,6 +216849,7 @@ zinc finger mynd domain-containing protein 11 This term has one or more labels that end with ', INCLUDED'. ZMYND11 + @@ -187717,6 +216872,7 @@ BNC2 basonuclin 2 BNC2 + @@ -187794,6 +216950,7 @@ fucose kinase l-fucose kinase FCSK + @@ -187820,6 +216977,7 @@ mindbomb e3 ubiquitin protein ligase 1 mindbomb, drosophila, homolog of, 1 MIB1 + @@ -187843,6 +217001,7 @@ p53-related protein kinase tp53-regulating kinase TP53RK + @@ -187867,6 +217026,7 @@ prpk-binding protein tp53rk-binding protein TPRKB + @@ -187875,6 +217035,12 @@ + + + + + + @@ -187908,6 +217074,7 @@ kiaa1565 ninein NIN + @@ -187935,6 +217102,12 @@ + + + + + + @@ -188025,6 +217198,7 @@ factor 1n germline alpha, mouse, homolog of folliculogenesis-specific bhlh transcription factor FIGLA + @@ -188049,6 +217223,7 @@ bone morphogenetic protein-binding endothelial regulator protein crossveinless 2, drosophila, homolog of BMPER + @@ -188144,6 +217319,7 @@ cdo cell adhesion molecule-related/downregulated by oncogenes CDON + @@ -188197,6 +217373,7 @@ CYP2R1 cytochrome p450, subfamily iir, polypeptide 1 CYP2R1 + @@ -188205,6 +217382,12 @@ + + + + + + @@ -188246,6 +217429,7 @@ kiaa1733 phosphatase and actin regulator 1 PHACTR1 + @@ -188280,6 +217464,7 @@ SLC39A5 solute carrier family 39 (zinc transporter), member 5 SLC39A5 + @@ -188304,6 +217489,7 @@ solute carrier family 39 (zinc transporter), member 8 zip8 SLC39A8 + @@ -188328,6 +217514,7 @@ solute carrier family 39 (zinc transporter), member 13 zip13 SLC39A13 + @@ -188432,6 +217619,7 @@ short calcium-binding mitochondrial carrier 1 solute carrier family 25 (mitochondrial carrier, phosphate carrier), member 24 SLC25A24 + @@ -188439,6 +217627,12 @@ + + + + + + @@ -188476,6 +217670,7 @@ mitotic chromosome-associated protein This term has one or more labels that end with ', INCLUDED'. BRD4 + @@ -188500,6 +217695,7 @@ alg3 not56-like protein alg3, s. cerevisiae, homolog of ALG3 + @@ -188508,6 +217704,12 @@ + + + + + + @@ -188541,6 +217743,7 @@ c1q- and tumor necrosis factor-related protein 5 ctrp5 C1QTNF5 + @@ -188565,6 +217768,7 @@ trna splicing endonuclease 2, s. cerevisiae, homolog of trna splicing endonuclease, subunit 2 TSEN2 + @@ -188590,6 +217794,7 @@ trna splicing endonuclease 34, s. cerevisiae, homolog of trna splicing endonuclease, subunit 34 TSEN34 + @@ -188651,6 +217856,7 @@ trna splicing endonuclease 15, s. cerevisiae, homolog of trna splicing endonuclease, subunit 15 TSEN15 + @@ -188677,6 +217883,7 @@ clp1, yeast, homolog of This term has one or more labels that end with ', INCLUDED'. CLP1 + @@ -188715,6 +217922,7 @@ autophagy-related 7 gsa7 ATG7 + @@ -188796,6 +218004,12 @@ + + + + + + @@ -188830,6 +218044,7 @@ pyruvate dehydrogenase complex, e3-binding protein subunit pyruvate dehydrogenase complex, lipoyl-containing component 10 PDHX + @@ -188854,6 +218069,7 @@ m2 antigen complex, 70-kd subunit pyruvate dehydrogenase complex, e2 subunit DLAT + @@ -188880,6 +218096,7 @@ thyroid hormone receptor-associated protein 2 trap240-like protein MED13L + @@ -188914,6 +218131,7 @@ KLHL10 kelch-like 10 KLHL10 + @@ -188922,6 +218140,12 @@ + + + + + + @@ -188958,6 +218182,7 @@ tfiih basal transcription factor complex, ttda subunit transcription factor iih, 8-kd subunit GTF2H5 + @@ -188983,6 +218208,12 @@ + + + + + + @@ -189015,6 +218246,7 @@ PC pyruvate carboxylase PC + @@ -189055,6 +218287,7 @@ gaip c-terminus-interacting protein 3 gipc pdz domain-containing family, member 3 GIPC3 + @@ -189096,6 +218329,7 @@ meiotic double-stranded break formation protein 1 spermatogenesis-associated protein 38 MEI1 + @@ -189120,6 +218354,7 @@ gasdermin e inversely correlated with estrogen receptor expression 1 GSDME + @@ -189128,6 +218363,12 @@ + + + + + + @@ -189145,6 +218386,12 @@ + + + + + + @@ -189176,6 +218423,7 @@ GCDH glutaryl-coa dehydrogenase GCDH + @@ -189309,6 +218557,12 @@ + + + + + + @@ -189398,6 +218652,7 @@ SUMO4 small ubiquitin-like modifier 4 SUMO4 + @@ -189421,6 +218676,7 @@ retinol dehydrogenase 12 retinol dehydrogenase, all-trans and 9-cis RDH12 + @@ -189462,6 +218718,7 @@ gremlin 2, dan family bmp antagonist protein related to dan and cerberus GREM2 + @@ -189554,6 +218811,7 @@ complement component 3- and pregnancy zone protein-like alpha-2-macroglobulin domain-containing protein 8 kiaa1283 CPAMD8 + @@ -189614,6 +218872,7 @@ carnitine palmitoyltransferase i, brain carnitine palmitoyltransferase-i related c CPT1C + @@ -189672,6 +218931,7 @@ astacin-like metalloendopeptidase ovastacin ASTL + @@ -189699,6 +218959,7 @@ yjef n-terminal domain-containing protein 1 yjefn domain-containing protein 1 NAXE + @@ -189739,6 +219000,7 @@ fragile site, folic acid-type, rare, fra(10)(q23.3), candidate gene 1 This term has one or more labels that end with ', INCLUDED'. FRA10AC1 + @@ -189763,6 +219025,7 @@ leucine-rich repeats- and immunoglobulin-like domains-containing protein 2 lig2 LRIG2 + @@ -189785,6 +219048,7 @@ SEMA6B semaphorin 6b SEMA6B + @@ -189836,6 +219100,7 @@ vacuolar protein sorting 13 homolog d vacuolar protein sorting 13, yeast, homolog of, d VPS13D + @@ -189876,6 +219141,7 @@ vacuolar protein sorting 13 homolog c vacuolar protein sorting 13, yeast, homolog of, c VPS13C + @@ -189912,6 +219178,7 @@ ral gtpase-activating protein, catalytic subunit alpha-1 tuberin-like protein 1 RALGAPA1 + @@ -189985,6 +219252,7 @@ solute carrier family 6 (neurotransmitter transporter), member 19 system b(0) neutral amino acid transporter 1 SLC6A19 + @@ -190008,6 +219276,7 @@ abelson helper integration site 1 jouberin AHI1 + @@ -190042,6 +219311,7 @@ dystrophin-associated glycoprotein, 35-kd sarcoglycan, gamma SGCG + @@ -190066,6 +219336,7 @@ unc13 homolog d unc13, c. elegans, homolog of, d UNC13D + @@ -190074,6 +219345,12 @@ + + + + + + @@ -190189,6 +219466,12 @@ + + + + + + @@ -190243,6 +219526,7 @@ atp synthase, mitochondrial f1 complex, assembly factor 2 atp12, s. cerevisiae, homolog of ATPAF2 + @@ -190267,6 +219551,7 @@ phosphatidylinositol transfer protein, membrane-associated, 3 pyk2 n-terminal domain-interacting receptor 1 PITPNM3 + @@ -190290,6 +219575,7 @@ adp-ribosylation factor-like gtpase 13b arl2-like protein 1 ARL13B + @@ -190429,6 +219715,12 @@ + + + + + + @@ -190515,6 +219807,7 @@ CABP4 calcium-binding protein 4 CABP4 + @@ -190568,6 +219861,12 @@ + + + + + + @@ -190587,6 +219886,12 @@ + + + + + + @@ -190594,10 +219899,10 @@ IMD104 - immunodeficiency 104 + immunodeficiency 104, severe combined scid, autosomal recessive, t cell-negative, B cell-positive, nk cell-positive severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-positive, nk cell-positive - immunodeficiency 104 + immunodeficiency 104, severe combined @@ -190621,6 +219926,7 @@ dnaj/hsp40 homolog, subfamily c, member 19 translocase of inner mitochondrial membrane 14, yeast, homolog of DNAJC19 + @@ -190704,6 +220010,7 @@ ring1b ring2 RNF2 + @@ -190743,6 +220050,7 @@ ADAMTS10 a disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 10 ADAMTS10 + @@ -190814,6 +220122,7 @@ dardarin leucine-rich repeat kinase 2 LRRK2 + @@ -190847,6 +220156,7 @@ 3-methylcrotonyl-coa carboxylase, biotin-containing subunit MCCC1 MCCC1 + @@ -190871,6 +220181,7 @@ 3-methylcrotonyl-coa carboxylase, non-biotin-containing subunit MCCC2 MCCC2 + @@ -190949,6 +220260,7 @@ hcs holocarboxylase synthetase HLCS + @@ -190971,6 +220283,7 @@ BTD biotinidase BTD + @@ -191006,6 +220319,7 @@ pnkd metallo-beta-lactamase domain-containing protein transactivated by hepatitis c virus core protein 2 PNKD + @@ -191030,6 +220344,7 @@ erd2.2 kdel endoplasmic reticulum protein retention receptor 2 KDELR2 + @@ -191055,6 +220370,7 @@ keratin 6, hair follicle keratin 75, type 2 KRT75 + @@ -191080,6 +220396,12 @@ + + + + + + @@ -191113,6 +220435,12 @@ + + + + + + @@ -191158,6 +220486,12 @@ + + + + + + @@ -191209,6 +220543,7 @@ g protein-coupled receptor 120 pgr4 FFAR4 + @@ -191226,6 +220561,12 @@ + + + + + + @@ -191272,6 +220613,7 @@ ndpp1 tumor-upregulated card-containing antagonist of casp9 CARD8 + @@ -191291,6 +220633,12 @@ + + + + + + @@ -191329,6 +220677,12 @@ + + + + + + @@ -191379,6 +220733,7 @@ methylmalonyl-coa mutase mut MMUT + @@ -191407,6 +220762,7 @@ transport-secretion protein 2 tts2.2 PNPLA2 + @@ -191415,6 +220771,12 @@ + + + + + + @@ -191448,6 +220810,7 @@ pou domain, class 6, transcription factor 2 retina-derived pou-domain factor 1 POU6F2 + @@ -191472,6 +220835,7 @@ thioredoxin, mitochondrial trx2 TXN2 + @@ -191527,6 +220891,7 @@ fbx28 kiaa0483 FBXO28 + @@ -191551,6 +220916,7 @@ fbx31 fbxo14 FBXO31 + @@ -191607,6 +220973,12 @@ + + + + + + @@ -191657,6 +221029,7 @@ programmed cell death 10 tfar15 PDCD10 + @@ -191698,6 +221071,7 @@ atpase, class ii, type 9a kiaa0611 ATP9A + @@ -191728,6 +221102,12 @@ + + + + + + @@ -191765,6 +221145,7 @@ lysine-specific demethylase 1 lysine-specific demethylase 1a KDM1A + @@ -191878,6 +221259,7 @@ flvcr heme transporter 1 slc49a1 FLVCR1 + @@ -191901,6 +221283,7 @@ kiaa0756 neurofascin NFASC + @@ -191908,6 +221291,12 @@ + + + + + + @@ -192044,6 +221433,7 @@ sgo shugoshin-like 1 SGOL1 + @@ -192072,6 +221462,7 @@ kinetochore scaffold 1 This term has one or more labels that end with ', INCLUDED'. KNL1 + @@ -192097,6 +221488,12 @@ + + + + + + @@ -192130,6 +221527,7 @@ d-2-hydroxyglutarate dehydrogenase d2hgd D2HGDH + @@ -192153,6 +221551,7 @@ chromosome 7 open reading frame 10 succinyl-coa:glutarate-coa transferase SUGCT + @@ -192177,6 +221576,7 @@ m-phase-specific plk1-interacting protein ttdn1 gene MPLKIP + @@ -192200,6 +221600,12 @@ + + + + + + @@ -192233,6 +221639,7 @@ fat tissue-specific low molecular weight protein melanocortin 2 receptor accessory protein MRAP + @@ -192260,6 +221667,12 @@ + + + + + + @@ -192295,6 +221708,7 @@ mitochondrial ribosomal protein s16: mrps16 mitochondrial ribosomal protein s16: mrps16 + @@ -192320,6 +221734,7 @@ ncx downstream gene 1 ns1-binding protein IVNS1ABP + @@ -192365,6 +221780,12 @@ + + + + + + @@ -192384,6 +221805,12 @@ + + + + + + @@ -192435,6 +221862,7 @@ WIPI2 wd40 repeat protein interacting with phosphoinositides 2 WIPI2 + @@ -192459,6 +221887,7 @@ wd repeat-containing protein 45b wd40 repeat protein interacting with phosphoinositides 3 WDR45B + @@ -192467,6 +221896,12 @@ + + + + + + @@ -192501,6 +221936,7 @@ nephrocystin 5 p53- and DNA damage-regulated 1q motif protein IQCB1 + @@ -192579,6 +222015,7 @@ pins, drosophila, homolog of transducin-binding partner, rod-specific GPSM2 + @@ -192601,6 +222038,7 @@ RNF13 ring finger protein 13 RNF13 + @@ -192637,6 +222075,12 @@ + + + + + + @@ -192787,6 +222231,7 @@ CRBN cereblon CRBN + @@ -192810,6 +222255,7 @@ nucleoporin, 37-kd p37 NUP37 + @@ -192868,6 +222314,12 @@ + + + + + + @@ -192933,6 +222385,7 @@ kiaa0056 non-smc condensin 2 complex subunit d3 NCAPD3 + @@ -192986,6 +222439,7 @@ general control nonderepressible 2 kiaa1338 EIF2AK4 + @@ -193075,6 +222529,7 @@ SPRED1 sprouty-related evh1 domain-containing protein 1 SPRED1 + @@ -193097,6 +222552,7 @@ SPRED2 sprouty-related evh1 domain-containing protein 2 SPRED2 + @@ -193104,6 +222560,12 @@ + + + + + + @@ -193213,6 +222675,7 @@ glutamate carrier 1 solute carrier family 25 (mitochondrial carrier, glutamate), member 22 SLC25A22 + @@ -193221,6 +222684,12 @@ + + + + + + @@ -193239,6 +222708,12 @@ + + + + + + @@ -193328,6 +222803,12 @@ + + + + + + @@ -193363,6 +222844,7 @@ dopamine beta-hydroxylase, plasma dopamine beta-monooxygenase DBH + @@ -193370,6 +222852,12 @@ + + + + + + @@ -193409,6 +222897,7 @@ testis-specific protein 2 tsa2 RSPH1 + @@ -193432,6 +222921,7 @@ rbcc728 tripartite motif-containing protein 36 TRIM36 + @@ -193489,6 +222979,7 @@ sas6 centriolar assembly protein sas6, c. elegans, homolog of SASS6 + @@ -193548,6 +223039,7 @@ tetratricopeptide repeat domain-containing protein 7a ttc7 TTC7A + @@ -193591,6 +223083,12 @@ + + + + + + @@ -193624,6 +223122,7 @@ gastric intrinsic factor if CBLIF + @@ -193658,6 +223157,7 @@ receptor expression-enhancing protein 6 tb2-like 1 REEP6 + @@ -193773,6 +223273,7 @@ minichromosome maintenance 10, s. cerevisiae, homolog of minichromosome maintenance complex component 10 MCM10 + @@ -193808,6 +223309,7 @@ pyrin domain- and nacht domain-containing protein 1 pyrin domain-containing apaf1-like protein 2 NLRP2 + @@ -193832,6 +223334,7 @@ kinesin family binding protein kinesin-binding protein KIFBP + @@ -193854,6 +223357,7 @@ ATL3 atlastin gtpase 3 ATL3 + @@ -193881,6 +223385,7 @@ lysine demethylase 3b lysine-specific demethylase 3b KDM3B + @@ -193965,6 +223470,7 @@ IER3IP1 immediate-early response 3-interacting protein 1 IER3IP1 + @@ -193988,6 +223494,7 @@ ichthyin nipa-like domain-containing protein 4 NIPAL4 + @@ -194030,6 +223537,7 @@ smc5-like 1 structural maintenance of chromosomes 5 SMC5 + @@ -194095,6 +223603,7 @@ STOX1 storkhead box 1 STOX1 + @@ -194155,6 +223664,12 @@ + + + + + + @@ -194304,6 +223819,7 @@ phosphatidylinositol 3-phosphate 5-kinase, type 3 phosphoinositide kinase, fyve finger-containing PIKFYVE + @@ -194319,6 +223835,24 @@ + + + + + + + + + + + + + + + + + + @@ -194369,6 +223903,7 @@ ring finger and ccch-type zinc finger domains-containing 1 roquin RC3H1 + @@ -194409,6 +223944,7 @@ lhfpl tetraspan subfamily, member 5 tetraspan membrane protein of hair cell stereocilia LHFPL5 + @@ -194538,6 +224074,7 @@ elastase 2a pancreatic elastase 2a CELA2A + @@ -194641,6 +224178,7 @@ histidase histidine ammonia-lyase HAL + @@ -194665,6 +224203,7 @@ mannosidase, alpha b, lysosomal mannosidase, alpha, class 2b, member 1 MAN2B1 + @@ -194672,6 +224211,12 @@ + + + + + + @@ -194784,6 +224329,7 @@ glucosylceramidase, nonlysosomal kiaa1605 GBA2 + @@ -194848,6 +224394,7 @@ mannase mannosidase, beta a, lysosomal MANBA + @@ -194915,6 +224462,7 @@ cytochrome p450, subfamily xxviib, polypeptide 1 p450c1-alpha CYP27B1 + @@ -194939,6 +224487,7 @@ p53-binding protein 3 topoisomerase i-binding arginine/serine-rich protein TOPORS + @@ -194977,6 +224526,7 @@ gp130-like receptor interleukin 31 receptor a IL31RA + @@ -195002,6 +224552,7 @@ chromatin-modifying protein 2b vacuolar protein sorting 2, yeast, homolog of, B CHMP2B + @@ -195027,6 +224578,7 @@ tbp-associated factor 8 tbp-associated factor, RNA polymerase ii, 43-kd TAF8 + @@ -195058,6 +224610,7 @@ THAP1 thap domain-containing protein 1 THAP1 + @@ -195082,6 +224635,7 @@ aldehyde dehydrogenase, family 3, subfamily a, member 2 fatty aldehyde dehydrogenase ALDH3A2 + @@ -195102,6 +224656,12 @@ + + + + + + @@ -195150,6 +224710,7 @@ rap guanine nucleotide exchange factor 2 ras-associating guanine nucleotide exchange factor RAPGEF2 + @@ -195157,6 +224718,12 @@ + + + + + + @@ -195240,6 +224807,7 @@ brg1-associated factor, 200-kd kiaa1557 ARID2 + @@ -195247,6 +224815,12 @@ + + + + + + @@ -195341,6 +224915,7 @@ kiaa0436 prolyl endopeptidase-like PREPL + @@ -195472,6 +225047,7 @@ hangover, drosophila, homolog of zinc finger protein 699 ZNF699 + @@ -195531,6 +225107,7 @@ acyl-coa dehydrogenase, very long-chain vlcad ACADVL + @@ -195554,6 +225131,7 @@ cullin 7 kiaa0076 CUL7 + @@ -195625,6 +225203,7 @@ duranin l-2-hydroxyglutarate dehydrogenase L2HGDH + @@ -195681,6 +225260,7 @@ ric-like protein without caax motif 1 roc1 RIT1 + @@ -195744,6 +225324,7 @@ poliovirus receptor-like 4 poliovirus receptor-related 4 NECTIN4 + @@ -195776,6 +225357,7 @@ gamma-tubulin complex component 4 tubulin-gamma complex-associated protein 4 TUBGCP4 + @@ -195821,6 +225403,7 @@ solute carrier family 30 (zinc transporter), member 2 zinc transporter 2 SLC30A2 + @@ -195878,6 +225461,12 @@ + + + + + + @@ -195995,6 +225584,12 @@ + + + + + + @@ -196080,6 +225675,12 @@ + + + + + + @@ -196132,6 +225733,7 @@ pyrin domain-containing apaf1-like protein 7 regulated by nitric oxide NLRP12 + @@ -196178,6 +225780,7 @@ myc-induced mitochondrial protein ndufa12-like NDUFAF2 + @@ -196252,6 +225855,7 @@ nacht domain-, leucine-rich repeat-, and pyd-containing protein 5 nlr family, pyrin domain-containing 5 NLRP5 + @@ -196277,6 +225881,7 @@ nod12 pyrin domain-containing apaf1-like protein 3 NLRP7 + @@ -196301,6 +225906,7 @@ utp21, s. cerevisiae, homolog of wd repeat-containing protein 36 WDR36 + @@ -196342,6 +225948,7 @@ steap3 metalloreductase tumor suppressor-activated pathway 6 STEAP3 + @@ -196393,6 +226000,7 @@ SLITRK6 slit- and ntrk-like family, member 6 SLITRK6 + @@ -196417,6 +226025,7 @@ apollo snm1, s. cerevisiae, homolog of, B DCLRE1B + @@ -196441,6 +226050,7 @@ centrosomal protein 2 centrosomal protein, 250-kd CEP250 + @@ -196466,6 +226076,7 @@ phenylalanine-trna synthetase-like, beta subunit phersb FARSB + @@ -196490,6 +226101,7 @@ formin homology-2 domain-containing protein 3 kiaa1695 FHOD3 + @@ -196527,6 +226139,12 @@ + + + + + + @@ -196593,6 +226211,7 @@ proteasome assembly chaperone 2 tnfsf5-induced protein 1 PSMG2 + @@ -196715,6 +226334,7 @@ PKD1L1 polycystin 1-like 1 PKD1L1 + @@ -196800,6 +226420,7 @@ hook related protein 1 kiaa1212 CCDC88A + @@ -196822,6 +226443,7 @@ ILDR1 immunoglobulin-like domain-containing receptor 1 ILDR1 + @@ -196830,6 +226452,12 @@ + + + + + + @@ -196866,6 +226494,7 @@ synaptic cell adhesion molecule 3 tslc1-like gene 1 CADM3 + @@ -197038,6 +226667,7 @@ trio- and filamentous-actin-binding protein trio-associated repeat on actin TRIOBP + @@ -197063,6 +226693,7 @@ hps8 gene reduced pigmentation, mouse, homolog of BLOC1S3 + @@ -197088,6 +226719,7 @@ pi4kii pi4kii-alpha PI4K2A + @@ -197113,6 +226745,7 @@ lysine demethylase 4b lysine-specific demethylase 4b KDM4B + @@ -197136,6 +226769,7 @@ orphan short-chain dehydrogenase/reductase short chain dehydrogenase/reductase family 9c, member 7 SDR9C7 + @@ -197185,6 +226819,7 @@ ubap ubiquitin-associated protein 1 UBAP1 + @@ -197226,6 +226861,7 @@ leucine-rich repeat protein, neuronal, 6a leucine-rich repeat- and ig domain-containing nogo receptor-interacting protein 1 LINGO1 + @@ -197234,6 +226870,12 @@ + + + + + + @@ -197414,6 +227056,7 @@ wd repeat-containing protein 16 wd40 repeat-containing protein upregulated 1n hepatocellular carcinoma CFAP52 + @@ -197469,6 +227112,12 @@ + + + + + + @@ -197488,6 +227137,12 @@ + + + + + + @@ -197554,6 +227209,12 @@ + + + + + + @@ -197588,6 +227249,12 @@ + + + + + + @@ -197650,6 +227317,7 @@ sodium/inorganic phosphate cotransporter, type 2c solute carrier family 34 (sodium/phosphate cotransporter), member 3 SLC34A3 + @@ -197682,6 +227350,7 @@ MMACHC metabolism of cobalamin associated c MMACHC + @@ -197737,6 +227406,7 @@ yjef n-terminal domain-containing protein 2 yjefn domain-containing protein 2 EDC3 + @@ -197759,6 +227429,7 @@ SI sucrase-isomaltase SI + @@ -197781,6 +227452,7 @@ PPCS phosphopantothenoylcysteine synthetase PPCS + @@ -197834,6 +227506,7 @@ nyd-sp12 spermatogenesis-associated protein 16 SPATA16 + @@ -197857,6 +227530,7 @@ matriptase 2 transmembrane protease, serine 6 TMPRSS6 + @@ -197881,6 +227555,7 @@ tectonic 1 tectonic family, member 1 TCTN1 + @@ -197929,6 +227604,7 @@ atonal, drosophila, homolog of, 7 This term has one or more labels that end with ', INCLUDED'. ATOH7 + @@ -198053,6 +227729,12 @@ + + + + + + @@ -198111,6 +227793,7 @@ chromosome 6 open reading frame 59 ripply transcriptional repressor 2 RIPPLY2 + @@ -198160,6 +227843,7 @@ kringle domain-containing transmembrane protein 1 krm1 KREMEN1 + @@ -198208,6 +227892,7 @@ mlc2 myosin light chain 9, regulatory MYL9 + @@ -198244,6 +227929,7 @@ cilia- and flagella-associated protein 91 mycbp-associated testis-expressed protein 1 CFAP91 + @@ -198268,6 +227954,7 @@ lysine acetyltransferase 8 mof, drosophila, homolog of KAT8 + @@ -198276,6 +227963,12 @@ + + + + + + @@ -198359,6 +228052,7 @@ eh domain-binding protein 1 kiaa0903 EHBP1 + @@ -198367,6 +228061,12 @@ + + + + + + @@ -198383,6 +228083,12 @@ + + + + + + @@ -198417,6 +228123,7 @@ vacuolar protein sorting 37, yeast, homolog of, a vps37a subunit of escrit-i VPS37A + @@ -198440,6 +228147,7 @@ cell division cycle-associated protein 7 jpo1 CDCA7 + @@ -198561,6 +228269,7 @@ mitochondrial ribonuclease p protein 3 protein only rnase p catalytic subunit PRORP + @@ -198585,6 +228294,7 @@ triad domain-containing protein 3 zinc finger protein inhibiting nfkb RNF216 + @@ -198694,6 +228404,7 @@ gametogenetin gametogenetin, mouse, homolog of GGN + @@ -198724,6 +228435,12 @@ + + + + + + @@ -198759,6 +228476,7 @@ vacuolar protein sorting 4, yeast, homolog of, a vps4 VPS4A + @@ -198893,6 +228611,7 @@ CEP55 centrosomal protein, 55-kd CEP55 + @@ -198940,6 +228659,7 @@ collagen-like alzheimer amyloid plaque component precursor This term has one or more labels that end with ', INCLUDED'. COL25A1 + @@ -198963,6 +228683,7 @@ kiaa0551 traf2- and nck-interacting kinase TNIK + @@ -198970,6 +228691,12 @@ + + + + + + @@ -199003,6 +228730,7 @@ arylsulfatase g kiaa1001 ARSG + @@ -199025,6 +228753,7 @@ ARSK arylsulfatase k ARSK + @@ -199055,6 +228784,12 @@ + + + + + + @@ -199118,6 +228853,12 @@ + + + + + + @@ -199151,6 +228892,7 @@ transportin 3 transportin-sr TNPO3 + @@ -199174,6 +228916,7 @@ vacuolar protein sorting 33, yeast, homolog of, a vps33a core subunit of corvet and hops complexes VPS33A + @@ -199198,6 +228941,7 @@ vacuolar protein sorting 45, yeast, homolog of vacuolar protein sorting 45, yeast, homolog of, a VPS45 + @@ -199220,6 +228964,7 @@ CLDN19 claudin 19 CLDN19 + @@ -199255,6 +229000,7 @@ potassium channel, subfamily t, member 2 slick KCNT2 + @@ -199278,6 +229024,7 @@ aldehyde dehydrogenase 5 family, member a1 succinic semialdehyde dehydrogenase, nad(+)-dependent ALDH5A1 + @@ -199285,6 +229032,12 @@ + + + + + + @@ -199319,6 +229072,7 @@ kiaa1669 tubulin-gamma complex-associated protein 6 TUBGCP6 + @@ -199341,6 +229095,7 @@ CC2D1A coiled-coil and c2 domains-containing protein 1a CC2D1A + @@ -199366,6 +229121,7 @@ ter trans-2,3-enoyl-coa reductase TECR + @@ -199421,6 +229177,7 @@ dynein, axonemal, heavy chain 7 kiaa0944 DNAH7 + @@ -199444,6 +229201,7 @@ chromosome 14 open reading frame 168 dynein, axonemal, light chain 1 DNAL1 + @@ -199467,6 +229225,7 @@ dnel2 dynein, axonemal, heavy chain 17 DNAH17 + @@ -199568,6 +229327,7 @@ sialic acid acetylesterase This term has one or more labels that end with ', INCLUDED'. SIAE + @@ -199619,6 +229379,7 @@ tenascin m4 teneurin transmembrane protein 4 TENM4 + @@ -199642,6 +229403,7 @@ kiaa1933 protein arginine methyltransferase 7 PRMT7 + @@ -199664,6 +229426,7 @@ RINT1 rad50-interacting protein 1 RINT1 + @@ -199671,6 +229434,12 @@ + + + + + + @@ -199734,6 +229503,7 @@ irf4-binding protein swap70-like adaptor of t cells DEF6 + @@ -199757,6 +229527,7 @@ minichromosome maintenance complex component 9 minichromosome maintenance deficient domain containing 1 MCM9 + @@ -199776,6 +229547,12 @@ + + + + + + @@ -199792,6 +229569,12 @@ + + + + + + @@ -199827,6 +229610,7 @@ o-sialoglycoprotein endopeptidase tsc3 OSGEP + @@ -199880,6 +229664,7 @@ chromosome 11 open reading frame 25 transmembrane protein 16c ANO3 + @@ -199955,6 +229740,12 @@ + + + + + + @@ -199992,6 +229783,7 @@ carbohydrate sulfotransferase 11 chondroitin 4-sulfotransferase 1 CHST11 + @@ -200188,6 +229980,7 @@ chromosome 12 open reading frame 58 flj23560 BBS10 + @@ -200227,6 +230020,7 @@ chaperonin containing tcp1, subunit 5 kiaa0098 CCT5 + @@ -200235,6 +230029,12 @@ + + + + + + @@ -200252,6 +230052,12 @@ + + + + + + @@ -200342,6 +230148,7 @@ coiled-coil domain-containing protein 28b mgc1203 CCDC28B + @@ -200350,6 +230157,12 @@ + + + + + + @@ -200385,6 +230198,7 @@ kiaa0763 loner, drosophila, homolog of IQSEC1 + @@ -200440,6 +230254,7 @@ kpl2 gene sperm flagellar protein 2 SPEF2 + @@ -200477,6 +230292,12 @@ + + + + + + @@ -200556,6 +230377,7 @@ glis family zinc finger protein 3 zinc finger protein 515 GLIS3 + @@ -200593,6 +230415,7 @@ mgc39558 udp-galnac:beta-glcnac-beta-1,3-galactosaminyltransferase, polypeptide 2 B3GALNT2 + @@ -200620,6 +230443,7 @@ p78 prostate tumor overexpressed gene 2 MED25 + @@ -200628,6 +230452,12 @@ + + + + + + @@ -200646,6 +230476,12 @@ + + + + + + @@ -200815,6 +230651,7 @@ chromosome 1 open reading frame 22 endoplasmic reticulum degradation-enhancing alpha-mannosidase-like protein 3 EDEM3 + @@ -200853,6 +230690,7 @@ dfnb59 gene pejvakin PJVK + @@ -200861,6 +230699,12 @@ + + + + + + @@ -200894,6 +230738,7 @@ ras and rab interactor 2 ras inhibitor jc265 RIN2 + @@ -200947,6 +230792,7 @@ flj13841 zinc finger protein 750 ZNF750 + @@ -200954,6 +230800,12 @@ + + + + + + @@ -201015,6 +230867,7 @@ atpase 13a3 atpase family homolog upregulated 1n senescence cells ATP13A3 + @@ -201064,6 +230917,7 @@ lnp1 lunapark LNPK + @@ -201099,6 +230953,12 @@ + + + + + + @@ -201184,6 +231044,12 @@ + + + + + + @@ -201234,6 +231100,7 @@ sec31, yeast, homolog of, a sec31-like 1 SEC31A + @@ -201320,6 +231187,7 @@ dnaj/hsp40 homolog, subfamily b, member 13 testis spermatogenesis apoptosis-related protein 6 DNAJB13 + @@ -201328,6 +231196,12 @@ + + + + + + @@ -201363,6 +231237,7 @@ tao kinase 1 tao1 TAOK1 + @@ -201395,6 +231270,7 @@ PIGS phosphatidylinositol glycan anchor biosynthesis class s protein PIGS + @@ -201447,6 +231323,7 @@ phosphatidylinositol glycan anchor biosynthesis class m protein pigm mannosyltransferase PIGM + @@ -201469,6 +231346,7 @@ PIGV phosphatidylinositol glycan anchor biosynthesis class 5 protein PIGV + @@ -201491,6 +231369,7 @@ PIGW phosphatidylinositol glycan anchor biosynthesis class w protein PIGW + @@ -201574,6 +231453,7 @@ LIPT1 lipoyltransferase 1 LIPT1 + @@ -201626,6 +231506,7 @@ galnac transferase 12 udp-n-acetyl-alpha-d-galactosamine:polypeptide n-acetylgalactosaminyltransferase 12 GALNT12 + @@ -201633,6 +231514,12 @@ + + + + + + @@ -201710,6 +231597,7 @@ ntt4 solute carrier family 6 (neurotransmitter transporter), member 17 SLC6A17 + @@ -201734,6 +231622,7 @@ ripe3b1 v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog a MAFA + @@ -201759,6 +231648,7 @@ beta-3-glycosyltransferase-like udp-gal:beta-glcnac beta-1,3-galactosyltransferase-like B3GLCT + @@ -201767,6 +231657,12 @@ + + + + + + @@ -201879,6 +231775,7 @@ flj11712 ribonuclease h2, subunit B RNASEH2B + @@ -201887,6 +231784,12 @@ + + + + + + @@ -201920,6 +231823,7 @@ flj20974 ribonuclease h2, subunit c RNASEH2C + @@ -201937,6 +231841,12 @@ + + + + + + @@ -201982,6 +231892,7 @@ leucine- and proline-enriched proteoglycan 1 prolyl 3-hydroxylase 1 P3H1 + @@ -202005,6 +231916,7 @@ leprecan-like 1 prolyl 3-hydroxylase 2 P3H2 + @@ -202058,6 +231970,7 @@ family with sequence similarity 178, member a smc5-smc6 complex localization factor 2 SLF2 + @@ -202084,6 +231997,7 @@ lins wins1 LINS1 + @@ -202093,6 +232007,12 @@ + + + + + + @@ -202131,6 +232051,7 @@ ric1 homolog, rab6a gef complex partner 1 ric1, s. cerevisiae, homolog of RIC1 + @@ -202173,6 +232094,12 @@ + + + + + + @@ -202204,6 +232131,12 @@ + + + + + + @@ -202289,6 +232222,7 @@ PADI6 peptidylarginine deiminase, type 6 PADI6 + @@ -202297,6 +232231,12 @@ + + + + + + @@ -202343,6 +232283,7 @@ g protein-coupled receptor 159 rdc1 ACKR3 + @@ -202419,6 +232360,7 @@ mapbp-interacting protein p14 LAMTOR2 + @@ -202443,6 +232385,7 @@ mpg1 perforin 2 MPEG1 + @@ -202467,6 +232410,7 @@ trafficking protein particle complex, subunit 6b trapp complex, subunit 6b TRAPPC6B + @@ -202485,6 +232429,12 @@ + + + + + + @@ -202550,6 +232500,7 @@ kiaa0602 phosphofurin acidic cluster sorting protein 2 PACS2 + @@ -202571,6 +232522,12 @@ + + + + + + @@ -202597,6 +232554,12 @@ + + + + + + @@ -202648,6 +232611,7 @@ ring finger protein 125 t-cell ring protein identified 1n activation screen RNF125 + @@ -202670,6 +232634,7 @@ RTTN rotatin RTTN + @@ -202720,6 +232685,12 @@ + + + + + + @@ -202739,6 +232710,12 @@ + + + + + + @@ -202902,6 +232879,7 @@ sphingomyelin phosphodiesterase 4, neutral membrane sphingomyelinase, neutral, 3 SMPD4 + @@ -202910,6 +232888,12 @@ + + + + + + @@ -202975,6 +232959,7 @@ g protein-coupled receptor 156 gababl GPR156 + @@ -202998,6 +232983,7 @@ HACD1 protein tyrosine phosphatase-like (proline instead of catalytic arginine), member a HACD1 + @@ -203017,6 +233003,12 @@ + + + + + + @@ -203049,6 +233041,12 @@ + + + + + + @@ -203089,6 +233087,12 @@ + + + + + + @@ -203122,6 +233126,7 @@ nogo-interacting mitochondrial protein reticulon 4-interacting protein 1 RTN4IP1 + @@ -203140,6 +233145,12 @@ + + + + + + @@ -203158,6 +233169,12 @@ + + + + + + @@ -203190,6 +233207,7 @@ sec23 homolog a, coat complex 2 component sec23, s. cerevisiae, homolog of, a SEC23A + @@ -203272,6 +233290,7 @@ glyctk1 This term has one or more labels that end with ', INCLUDED'. GLYCTK + @@ -203295,6 +233314,7 @@ centrosomal protein, 41-kd testis-specific protein a14 testis-specific protein 14, formerly CEP41 + @@ -203319,6 +233339,7 @@ chromodomain helicase dna-binding protein 8 kiaa1564 CHD8 + @@ -203387,6 +233408,7 @@ ww and c2 domains-containing protein 1 ww, c2, and coiled-coil domain-containing 1 WWC1 + @@ -203411,6 +233433,7 @@ decapping enzyme, scavenger histidine triad nucleotide-binding protein 5 DCPS + @@ -203434,6 +233457,12 @@ + + + + + + @@ -203469,6 +233498,7 @@ ubiquitin-conjugating enzyme e2 t ubiquitin-conjugating enzyme e2t UBE2T + @@ -203506,6 +233536,7 @@ nesp, antisense sang GNASAS1 + @@ -203515,6 +233546,12 @@ + + + + + + @@ -203588,6 +233625,12 @@ + + + + + + @@ -203649,6 +233692,7 @@ UFM1 ubiquitin-fold modifier 1 UFM1 + @@ -203672,6 +233716,7 @@ ubiquitin-fold modifier-conjugating enzyme 1 ufm1-conjugating enzyme 1 UFC1 + @@ -203697,6 +233742,7 @@ decaprenyl diphosphate synthase, subunit 2 prenyl diphosphate synthase, subunit 2 PDSS2 + @@ -203720,6 +233766,7 @@ dnalc4, mouse, homolog of dynein, axonemal, light chain 4 DNAL4 + @@ -203745,6 +233792,7 @@ zinc finger protein 687 This term has one or more labels that end with ', INCLUDED'. ZNF687 + @@ -203769,6 +233817,7 @@ marvel domain-containing protein 2 tricellulin MARVELD2 + @@ -203793,6 +233842,7 @@ r-spondin 4 r-spondin family, member 4 RSPO4 + @@ -203858,6 +233908,7 @@ folliculin-interacting protein 1 kiaa1961 FNIP1 + @@ -203884,6 +233935,7 @@ flavin adenine dinucleotide synthetase, s. cerevisiae, homolog of fmn adenylyltransferase FLAD1 + @@ -203907,6 +233959,7 @@ photoreceptor disc component prcd, dog, homolog of PRCD + @@ -203915,6 +233968,12 @@ + + + + + + @@ -203965,6 +234024,7 @@ psf1, s. cerevisiae, homolog of This term has one or more labels that end with ', INCLUDED'. GINS1 + @@ -203973,6 +234033,12 @@ + + + + + + @@ -204112,6 +234178,7 @@ fuzzy planar cell polarity protein fuzzy, drosophila, homolog of FUZ + @@ -204150,6 +234217,7 @@ adp-ribosylhydrolase 3 adp-ribosylhydrolase-like 2 ADPRHL2 + @@ -204172,6 +234240,7 @@ A2ML1 alpha-2-macroglobulin-like 1 A2ML1 + @@ -204180,6 +234249,12 @@ + + + + + + @@ -204197,6 +234272,12 @@ + + + + + + @@ -204245,6 +234326,7 @@ CTHRC1 collagen triple-helix repeat-containing protein 1 CTHRC1 + @@ -204281,6 +234363,7 @@ n-acetyltransferase 8-like nat8-like NAT8L + @@ -204307,6 +234390,7 @@ cut-like homeobox 2 kiaa0293 CUX2 + @@ -204435,6 +234519,7 @@ n-glycanase 1 peptide-n-glycanase 1, s. cerevisiae, homolog of NGLY1 + @@ -204457,6 +234542,7 @@ PIGY phosphatidylinositol glycan anchor biosynthesis class y protein PIGY + @@ -204479,6 +234565,7 @@ CYP2U1 cytochrome p450, family 2, subfamily u, polypeptide 1 CYP2U1 + @@ -204503,6 +234590,7 @@ nac1 nucleus accumbens-associated protein 1, ben and btb/poz domains-containing NACC1 + @@ -204528,6 +234616,12 @@ + + + + + + @@ -204570,6 +234664,7 @@ pfk1 phosphofructokinase, muscle type PFKM + @@ -204578,6 +234673,12 @@ + + + + + + @@ -204613,6 +234714,7 @@ c4orf24 flj35630 BBS12 + @@ -204637,6 +234739,12 @@ + + + + + + @@ -204681,6 +234789,7 @@ beta-hydroxyisobutyryl-coenzyme a hydrolase hibyl-coa-h HIBCH + @@ -204705,6 +234814,7 @@ hyls1 centriolar and ciliogenesis-associated protein hyls1 gene HYLS1 + @@ -204723,6 +234833,12 @@ + + + + + + @@ -204780,6 +234896,12 @@ + + + + + + @@ -204806,6 +234928,12 @@ + + + + + + @@ -204839,6 +234967,7 @@ tetratricopeptide repeat domain-containing protein 12 tparm TTC12 + @@ -204858,6 +234987,12 @@ + + + + + + @@ -204893,6 +235028,7 @@ kiaa1460 trinucleotide repeat-containing gene 6a TNRC6A + @@ -204916,6 +235052,7 @@ kiaa1093 trinucleotide repeat-containing gene 6b TNRC6B + @@ -204986,6 +235123,7 @@ sec59, yeast, homolog of transmembrane protein 15, formerly DOLK + @@ -205011,6 +235149,12 @@ + + + + + + @@ -205039,6 +235183,12 @@ + + + + + + @@ -205056,6 +235206,12 @@ + + + + + + @@ -205104,6 +235260,12 @@ + + + + + + @@ -205177,6 +235339,7 @@ flj11222 meiosis-specific nuclear structural protein 1 MNS1 + @@ -205200,6 +235363,7 @@ apg16-like autophagy 16-like 1 ATG16L1 + @@ -205208,6 +235372,12 @@ + + + + + + @@ -205242,6 +235412,7 @@ CHD5 chromodomain helicase dna-binding protein 5 CHD5 + @@ -205249,6 +235420,12 @@ + + + + + + @@ -205286,6 +235463,7 @@ protein associated with toll-like receptor 4, a trinucleotide repeat-containing gene 5 CNPY3 + @@ -205311,6 +235489,7 @@ slalom, drosophila, homolog of solute carrier family 35 (3-prime-phosphoadenosine 5-prime-phosphosulfate transporter), member b2 SLC35B2 + @@ -205327,6 +235506,12 @@ + + + + + + @@ -205366,6 +235551,7 @@ SLC41A1 solute carrier family 41 (magnesium transporter), member 1 SLC41A1 + @@ -205390,6 +235576,7 @@ solute carrier family 35 (udp-glucuronic acid/udp-n-acetylgalactosamine dual transporter), member d1 udp-galactose transporter-related 7 SLC35D1 + @@ -205426,6 +235613,7 @@ hydin1 hydrocephalus-inducing, mouse, homolog of HYDIN + @@ -205466,6 +235654,7 @@ SLC25A38 solute carrier family 25, member 38 SLC25A38 + @@ -205488,6 +235677,7 @@ SLC25A42 solute carrier family 25, member 42 SLC25A42 + @@ -205541,6 +235731,7 @@ zinc finger protein 335 This term has one or more labels that end with ', INCLUDED'. ZNF335 + @@ -205609,6 +235800,7 @@ n-alpha-acetyltransferase 20, natb catalytic subunit nat3, s. cerevisiae, homolog of NAA20 + @@ -205728,6 +235920,12 @@ + + + + + + @@ -205769,6 +235967,7 @@ ankyrin repeat domain-containing protein 26 kiaa1074 ANKRD26 + @@ -205792,6 +235991,7 @@ capping protein regulator and myosin 1 linker 2 rgd-, leucine-rich repeat-, tropomodulin domain-, and proline-rich domain-containing protein CARMIL2 + @@ -205838,6 +236038,7 @@ g protein, beta-4 subunit guanine nucleotide-binding protein, beta-4 GNB4 + @@ -205866,6 +236067,7 @@ mfsd7c slc49a2 FLVCR2 + @@ -205917,6 +236119,7 @@ hect domain- and ankyrin repeat-containing e3 ubiquitin protein ligase 1 kiaa1320 HACE1 + @@ -205925,6 +236128,12 @@ + + + + + + @@ -205960,6 +236169,7 @@ su(var)4-20, drosophila, homolog of, 1 suppressor of variegation 4-20, drosophila, homolog of, 1 KMT5B + @@ -205985,6 +236195,12 @@ + + + + + + @@ -206020,6 +236236,7 @@ snf7, yeast, homolog of, 2 snf7-2 CHMP4B + @@ -206147,6 +236364,7 @@ kiaa1204 rho gtpase-activating protein 31 ARHGAP31 + @@ -206169,6 +236387,7 @@ AMTN amelotin AMTN + @@ -206177,6 +236396,12 @@ + + + + + + @@ -206197,6 +236422,12 @@ + + + + + + @@ -206233,6 +236464,7 @@ substrate of aim1/aurora kinase B trm4, s. cerevisiae, homolog of NSUN2 + @@ -206256,6 +236488,7 @@ rah, mouse, homolog of ras-associated protein 34 RAB34 + @@ -206264,6 +236497,12 @@ + + + + + + @@ -206301,6 +236540,7 @@ ranbp-type and c3hc4-type zinc finger-containing 1 rbcc protein interacting with pkc 1 RBCK1 + @@ -206324,6 +236564,7 @@ interleukin 17 receptor c interleukin 17 receptor-like protein IL17RC + @@ -206376,6 +236617,7 @@ sry-box 17 sry-related hmg-box gene 17 SOX17 + @@ -206399,6 +236641,7 @@ zinc finger gene 1n autoimmune thyroid disease 1 zinc finger protein 406 ZFAT1 + @@ -206423,6 +236666,7 @@ ring zinc finger and leucine-rich repeat-containing protein tsg101-associated ligase LRSAM1 + @@ -206446,6 +236690,7 @@ newborn ovary homeobox, mouse, homolog of nobox oogenesis homeobox NOBOX + @@ -206546,6 +236791,7 @@ mirn204 mirna204 MIR204 + @@ -206594,6 +236840,7 @@ SYT14 synaptotagmin 14 SYT14 + @@ -206641,6 +236888,7 @@ aspartyl-trna synthetase, mitochondrial mt-asprs DARS2 + @@ -206665,6 +236913,7 @@ tyrosyl-trna synthetase 2 tyrosyl-trna synthetase, mitochondrial YARS2 + @@ -206715,6 +236964,12 @@ + + + + + + @@ -206759,6 +237014,7 @@ TRAPPC2L trafficking protein particle complex 2-like TRAPPC2L + @@ -206782,6 +237038,7 @@ synbindin trafficking protein particle complex, subunit 4 TRAPPC4 + @@ -206858,6 +237115,7 @@ LRRK1 leucine-rich repeat kinase 1 LRRK1 + @@ -206893,6 +237151,7 @@ kiaa0657 obscurin-like 1 OBSL1 + @@ -206911,6 +237170,12 @@ + + + + + + @@ -206977,6 +237242,7 @@ iron-sulfur cluster assembly 1 iron-sulfur cluster assembly 1, s. cerevisiae, homolog of ISCA1 + @@ -207054,6 +237320,12 @@ + + + + + + @@ -207088,6 +237360,7 @@ trna methyltransferase 5 trna methyltransferase 5, s. cerevisiae, homolog of TRMT5 + @@ -207114,6 +237387,7 @@ fatty acid hydroxylase domain-containing protein 1 scs7, s. cerevisiae, homolog of FA2H + @@ -207180,6 +237454,7 @@ s-adenosylmethionine carrier protein solute carrier family 25 (mitochondrial carrier, phosphate carrier), member 26 SLC25A26 + @@ -207188,6 +237463,12 @@ + + + + + + @@ -207275,6 +237556,7 @@ coiled-coil domain-containing protein 50 ymer CCDC50 + @@ -207331,6 +237613,7 @@ kiaa0375 run domain and sh3 domain-containing protein 2 RUSC2 + @@ -207356,6 +237639,7 @@ set domain-containing protein 1b set1b SETD1B + @@ -207419,6 +237703,7 @@ dentin matrix protein 4 family with sequence similarity 20, member c FAM20C + @@ -207441,6 +237726,7 @@ FAM20A family with sequence similarity 20, member a FAM20A + @@ -207448,6 +237734,12 @@ + + + + + + @@ -207483,6 +237775,7 @@ protein phosphatase, magnesium/manganese-dependent, 1k protein phosphatase, pp2c domain-containing, 1k PPM1K + @@ -207537,6 +237830,7 @@ dph5, s. cerevisiae, homolog of hspc143 DPH5 + @@ -207545,6 +237839,12 @@ + + + + + + @@ -207577,6 +237877,7 @@ c22orf35 miat gene MIAT + @@ -207584,6 +237885,12 @@ + + + + + + @@ -207618,6 +237925,7 @@ dynein regulatory complex subunit 2 nyd-sp28 CCDC65 + @@ -207643,6 +237951,7 @@ hjumpy myotubularin-related protein 14 MTMR14 + @@ -207662,6 +237971,12 @@ + + + + + + @@ -207692,6 +238007,12 @@ + + + + + + @@ -207857,6 +238178,7 @@ ACAD9 acyl-coa dehydrogenase family, member 9 ACAD9 + @@ -207880,6 +238202,7 @@ fgd1-related f-actin-binding protein fyve, rhogef, and ph domain-containing protein 4 FGD4 + @@ -207887,6 +238210,12 @@ + + + + + + @@ -207981,6 +238310,7 @@ EPHA10 ephrin receptor epha10 EPHA10 + @@ -208018,6 +238348,12 @@ + + + + + + @@ -208114,6 +238450,7 @@ telomere maintenance 2 telomere maintenance 2, s. cerevisiae, homolog of TELO2 + @@ -208137,6 +238474,7 @@ solute carrier family 30 (zinc transporter), member 8 zinc transporter 8 SLC30A8 + @@ -208160,6 +238498,7 @@ solute carrier family 30 (zinc transporter), member 10 zinc transporter 10 SLC30A10 + @@ -208201,6 +238540,7 @@ solute carrier family 30 (zinc transporter), member 7 zinc transporter 7 SLC30A7 + @@ -208224,6 +238564,7 @@ ataxin 10 e46-like ATXN10 + @@ -208264,6 +238605,7 @@ xpa gene xpa, DNA damage recognition and repair factor XPA + @@ -208296,6 +238638,18 @@ + + + + + + + + + + + + @@ -208357,6 +238711,12 @@ + + + + + + @@ -208392,6 +238752,7 @@ kiaa1374 wd repeat-containing protein 56 IFT80 + @@ -208400,6 +238761,12 @@ + + + + + + @@ -208490,6 +238857,7 @@ nasopharyngeal carcinoma susceptibility protein t13 ANKRD11 + @@ -208515,6 +238883,7 @@ dnaj/hsp40 homolog, subfamily c, member 5 dnaj/hsp40 homolog, subfamily c, member 5, alpha DNAJC5 + @@ -208554,6 +238923,12 @@ + + + + + + @@ -208588,6 +238963,7 @@ receptor expressed 1n lymphoid tissues tumor necrosis factor receptor superfamily, member 19-like RELT + @@ -208613,6 +238989,7 @@ unc45 myosin chaperone a unc45, c. elegans, homolog of, a UNC45A + @@ -208682,6 +239059,7 @@ v-akt murine thymoma viral oncogene homolog 3 This term has one or more labels that end with ', INCLUDED'. AKT3 + @@ -208708,6 +239086,7 @@ succinate-coa ligase, gdp/adp-forming, subunit alpha succinyl-coa synthetase, alpha subunit SUCLG1 + @@ -208756,6 +239135,7 @@ transmembrane protein 38b trimeric intracellular cation channel type B TMEM38B + @@ -208866,6 +239246,7 @@ tudor domain-containing protein 7 tudor repeat associator with pctaire2 TDRD7 + @@ -208891,6 +239272,7 @@ deoxyhypusine monooxygenase heat-like repeat-containing protein 1 DOHH + @@ -208899,6 +239281,12 @@ + + + + + + @@ -208934,6 +239322,7 @@ snap, beta soluble nsf-attachment protein, beta NAPB + @@ -208991,6 +239380,7 @@ KIF12 kinesin family member 12 KIF12 + @@ -209044,6 +239434,7 @@ kiaa1010 tuba DNMBP + @@ -209051,6 +239442,12 @@ + + + + + + @@ -209094,12 +239491,15 @@ + ihh enhancer 8 NHEJ1 cernunnos nej1, s. cerevisiae, homolog of nonhomologous end-joining factor 1 xrcc4-like factor + This term has one or more labels that end with ', INCLUDED'. NHEJ1 + @@ -209109,6 +239509,12 @@ + + + + + + @@ -209116,13 +239522,13 @@ IMD124 - immunodeficiency 124 + immunodeficiency 124, severe combined nhej1 syndrome scid, autosomal recessive, t cell-negative, B cell-negative, nk cell-positive, and sensitivity to ionizing radiation due to nhej1 deficiency scid, autosomal recessive, t cell-negative, B cell-negative, nk cell-positive, with microcephaly, growth retardation, and sensitivity to ionizing radiation severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation severe combined immunodeficiency with sensitivity to ionizing radiation due to nhej1 deficiency - immunodeficiency 124 + immunodeficiency 124, severe combined @@ -209160,6 +239566,12 @@ + + + + + + @@ -209224,6 +239636,7 @@ arms2 gene loc387715 ARMS2 + @@ -209247,6 +239660,7 @@ p101 phosphatidylinositol 3-kinase, regulatory subunit 5 PIK3R5 + @@ -209271,6 +239685,7 @@ mediator complex subunit 12-like no opposite-paired repeat MED12L + @@ -209294,6 +239709,7 @@ dnaj/hsp40 homolog, subfamily b, member 4 human liver dnaj-like DNAJB4 + @@ -209318,6 +239734,7 @@ dnaj/hsp40 homolog, subfamily b, member 6 mrj DNAJB6 + @@ -209343,6 +239760,7 @@ dnaj/hsp40 homolog, subfamily b, member 11 human endoplasmic reticulum-associated dnaj DNAJB11 + @@ -209367,6 +239785,7 @@ integrator complex subunit 1 kiaa1440 INTS1 + @@ -209390,6 +239809,7 @@ int8 integrator complex subunit 8 INTS8 + @@ -209414,6 +239834,7 @@ integrator complex subunit 11 related to cpsf subunits, 68-kd protein INTS11 + @@ -209438,6 +239859,7 @@ family with sequence similarity 46, member a terminal nucleotidyltransferase 5a TENT5A + @@ -209461,6 +239883,7 @@ fanci gene kiaa1794 FANCI + @@ -209469,6 +239892,12 @@ + + + + + + @@ -209503,6 +239932,12 @@ + + + + + + @@ -209570,6 +240005,7 @@ disco-interacting protein 2, drosophila, homolog of, B kiaa1463 DIP2B + @@ -209666,6 +240102,7 @@ adnp1 kiaa0784 ADNP + @@ -209686,6 +240123,12 @@ + + + + + + @@ -209719,6 +240162,7 @@ gas2-related protein growth arrest-specific 2-like 2 GAS2L2 + @@ -209771,6 +240215,7 @@ lebercilin leberilin lca5 LCA5 + @@ -209858,6 +240303,7 @@ p66 polymerase (dna-directed), delta 3, accessory subunit POLD3 + @@ -209911,6 +240357,7 @@ centrosomal protein, 135-kd kiaa0635 CEP135 + @@ -209974,6 +240421,7 @@ stress-inducible protein 2 tetratricopeptide repeat domain-containing protein 21a TTC21A + @@ -209981,6 +240429,12 @@ + + + + + + @@ -210013,6 +240467,7 @@ DOCK8 dedicator of cytokinesis 8 DOCK8 + @@ -210039,6 +240494,7 @@ kiaa0187 ribosome biogenesis protein bms1 BMS1 + @@ -210047,6 +240503,12 @@ + + + + + + @@ -210158,6 +240620,7 @@ SLC10A7 solute carrier family 10 (sodium/bile acid cotransporter family), member 7 SLC10A7 + @@ -210239,6 +240702,7 @@ kiaa1461 methyl-cpg-binding domain protein 5 MBD5 + @@ -210299,6 +240763,7 @@ yip1 domain family, member 5 yip1a YIPF5 + @@ -210351,6 +240816,12 @@ + + + + + + @@ -210400,6 +240871,7 @@ carbonic anhydrase B carbonic anhydrase c, formerly CA2 + @@ -210451,6 +240923,7 @@ cytochrome p450, family 4, subfamily f, polypeptide 22 cytochrome p450, subfamily ivf, polypeptide 22 CYP4F22 + @@ -210473,6 +240946,7 @@ GATA5 gata-binding protein 5 GATA5 + @@ -210493,6 +240967,12 @@ + + + + + + @@ -210524,6 +241004,7 @@ GUSB beta-glucuronidase GUSB + @@ -210547,6 +241028,7 @@ calmodulin-binding transcription activator 1 kiaa0833 CAMTA1 + @@ -210573,6 +241055,7 @@ nutrient deprivation autophagy factor 1 zinc finger protein zcd2 CISD2 + @@ -210595,6 +241078,7 @@ CENPT centromeric protein t CENPT + @@ -210620,6 +241104,7 @@ wnt ligand secretion mediator wntless, drosophila, homolog of WLS + @@ -210646,6 +241131,12 @@ + + + + + + @@ -210678,6 +241169,12 @@ + + + + + + @@ -210712,6 +241209,7 @@ arginyl-trna synthetase, mitochondrial rarsl RARS2 + @@ -210749,6 +241247,7 @@ essential for mitotic growth 1, s. cerevisiae, homolog of nucleolar essential protein 1 EMG1 + @@ -210808,6 +241307,7 @@ nuclear-associated protein This term has one or more labels that end with ', INCLUDED'. CTNNBL1 + @@ -210832,6 +241332,7 @@ genesis, mouse, homolog of hfh2 FOXD3 + @@ -210854,6 +241355,7 @@ ARSB arylsulfatase B ARSB + @@ -210861,6 +241363,12 @@ + + + + + + @@ -210878,6 +241386,12 @@ + + + + + + @@ -210913,6 +241427,12 @@ + + + + + + @@ -210975,6 +241495,7 @@ cd337 antigen natural cytotoxicity triggering receptor 3 NCR3 + @@ -211015,6 +241536,12 @@ + + + + + + @@ -211072,6 +241599,7 @@ sept12 septin 12 SEPTIN12 + @@ -211120,6 +241648,7 @@ fructose-1,6-bisphosphatase, liver fructose-1,6-diphosphatase FBP1 + @@ -211177,6 +241706,7 @@ sms2 sphingomyelin synthase 2 SGMS2 + @@ -211202,6 +241732,7 @@ lysine demethylase 6b lysine-specific demethylase 6b KDM6B + @@ -211307,6 +241838,7 @@ u5 snrnp-specific protein, 15-kd u5-15kd TXNL4A + @@ -211315,6 +241847,12 @@ + + + + + + @@ -211352,6 +241890,12 @@ + + + + + + @@ -211384,6 +241928,7 @@ endoplasmic reticulum lipid raft-associated protein 1 keo4 ERLIN1 + @@ -211438,6 +241983,7 @@ mirn96 mirna96 MIR96 + @@ -211460,6 +242006,7 @@ PGM2L1 phosphoglucomutase 2-like 1 PGM2L1 + @@ -211484,6 +242031,7 @@ s-phase cyclin a-associated protein 1n the endoplasmic reticulum zinc finger protein 291 SCAPER + @@ -211528,6 +242076,7 @@ adaptin ear-binding coat-associated protein 1 necap endocytosis-associated protein 1 NECAP1 + @@ -211587,6 +242136,7 @@ transitional epithelial response protein 1 ubia prenyltransferase domain-containing protein 1 UBIAD1 + @@ -211703,6 +242253,7 @@ arv1 homolog, fatty acid homeostasis modulator arv1, s. cerevisiae, homolog of ARV1 + @@ -211728,6 +242279,7 @@ kiaa0433 vip2 PPIP5K2 + @@ -211766,6 +242318,7 @@ cspp This term has one or more labels that end with ', INCLUDED'. CSPP1 + @@ -211789,6 +242342,7 @@ gpi deacylase post-gpi attachment to proteins 1 PGAP1 + @@ -211812,6 +242366,7 @@ chromosome 20 open reading frame 140 tbc1 domain family, member 20 TBC1D20 + @@ -211851,6 +242406,7 @@ trna methyltransferase 1, s. cerevisiae, homolog of trna(m(2,2)g26)dimethyltransferase TRMT1 + @@ -211875,6 +242431,7 @@ proton-coupled folate transporter solute carrier family 46 (folate transporter), member 1 SLC46A1 + @@ -211899,6 +242456,7 @@ embryonic stem cell-associated transcript 1 khdc3-like protein, subcortical maternal complex member KHDC3L + @@ -211924,6 +242482,7 @@ coxsackievirus- and adenovirus receptor-like membrane protein cxadr-like membrane protein CLMP + @@ -211956,6 +242515,7 @@ TTBK2 tau tubulin kinase 2 TTBK2 + @@ -212075,6 +242635,12 @@ + + + + + + @@ -212120,6 +242686,7 @@ enhanced at puberty 1 interferon regulatory factor 2-binding protein like IRF2BPL + @@ -212151,6 +242718,12 @@ + + + + + + @@ -212186,6 +242759,7 @@ KCTD7 potassium channel tetramerization domain-containing protein 7 KCTD7 + @@ -212195,6 +242769,12 @@ + + + + + + @@ -212227,6 +242807,7 @@ KLC2 kinesin light chain 2 KLC2 + @@ -212385,6 +242966,7 @@ lipase maturation factor 1 transmembrane protein 112 LMF1 + @@ -212393,6 +242975,12 @@ + + + + + + @@ -212428,6 +243016,7 @@ skin aspartic protease tpa-inducible aspartic proteinase ASPRV1 + @@ -212537,6 +243126,7 @@ chromosome 6 open reading frame 66 hormone-regulated proliferation-associated protein, 20-kd NDUFAF4 + @@ -212545,6 +243135,12 @@ + + + + + + @@ -212577,6 +243173,7 @@ glycerol-3-phosphate dehydrogenase 1-like kiaa0089 GPD1L + @@ -212585,6 +243182,12 @@ + + + + + + @@ -212631,6 +243234,7 @@ per1-like domain-containing protein 1 post-gpi attachment to proteins 3 PGAP3 + @@ -212638,6 +243242,12 @@ + + + + + + @@ -212674,6 +243284,7 @@ elongation of very long chain fatty acids-like 5 helo1 ELOVL5 + @@ -212728,6 +243339,7 @@ elongation of very long chain fatty acids-like 1 ssc1, mouse, homolog of ELOVL1 + @@ -212775,6 +243387,12 @@ + + + + + + @@ -212807,6 +243425,7 @@ mitochondrial ribosomal protein l39 mrpl5 MRPL39 + @@ -212829,6 +243448,7 @@ MRPL44 mitochondrial ribosomal protein l44 MRPL44 + @@ -212886,6 +243506,12 @@ + + + + + + @@ -212914,6 +243540,12 @@ + + + + + + @@ -212969,6 +243601,12 @@ + + + + + + @@ -212991,6 +243629,12 @@ + + + + + + @@ -213024,6 +243668,7 @@ shank-associated rh domain interactor shank-interacting protein-like 1 SHARPIN + @@ -213131,6 +243776,7 @@ pleckstrin homology domain- and rhogef domain-containing protein g2 pleckstrin homology domain-containing protein, family g, member 2 PLEKHG2 + @@ -213155,6 +243801,7 @@ mirn140 mirna140 MIR140 + @@ -213163,6 +243810,12 @@ + + + + + + @@ -213214,6 +243867,7 @@ von willebrand factor a domain-containing protein 1 von willebrand factor a domain-related protein VWA1 + @@ -213254,6 +243908,7 @@ rft1 homolog rft1, s. cerevisiae, homolog of RFT1 + @@ -213277,6 +243932,7 @@ monocarboxylate transporter 12 solute carrier family 16 (monocarboxylic acid transporter), member 12 SLC16A12 + @@ -213300,6 +243956,7 @@ iron-sulfur cluster assembly enzyme iron-sulfur cluster scaffold, e. coli, homolog of ISCU + @@ -213374,6 +244031,7 @@ FAM83H family with sequence similarity 83, member h FAM83H + @@ -213381,6 +244039,12 @@ + + + + + + @@ -213465,6 +244129,12 @@ + + + + + + @@ -213496,6 +244166,12 @@ + + + + + + @@ -213625,6 +244301,7 @@ chromosome 3 open reading frame 52 tpa-induced transmembrane protein C3ORF52 + @@ -213709,6 +244386,7 @@ nik- and ikbkb-binding protein trafficking protein particle complex, subunit 9 TRAPPC9 + @@ -213731,6 +244409,7 @@ MRPS2 mitochondrial ribosomal protein s2 MRPS2 + @@ -213753,6 +244432,7 @@ MRPS7 mitochondrial ribosomal protein s7 MRPS7 + @@ -213775,6 +244455,7 @@ MRPS14 mitochondrial ribosomal protein s14 MRPS14 + @@ -213797,6 +244478,7 @@ MRPS23 mitochondrial ribosomal protein s23 MRPS23 + @@ -213819,6 +244501,7 @@ MRPS25 mitochondrial ribosomal protein s25 MRPS25 + @@ -213842,6 +244525,7 @@ mitochondrial ribosomal protein s28 mrps35 MRPS28 + @@ -213865,6 +244549,7 @@ mitochondrial ribosomal protein s34 mrps12 MRPS34 + @@ -213888,6 +244573,7 @@ camp response element-binding protein 3-like 3 crebh CREB3L3 + @@ -213927,6 +244613,7 @@ grb10-interacting gyf protein 2 kiaa0642 GIGYF2 + @@ -213935,6 +244622,12 @@ + + + + + + @@ -214096,6 +244789,7 @@ spg15 gene zinc finger fyve domain-containing protein 26 ZFYVE26 + @@ -214174,6 +244868,12 @@ + + + + + + @@ -214193,6 +244893,12 @@ + + + + + + @@ -214228,6 +244934,12 @@ + + + + + + @@ -214274,6 +244986,7 @@ duba5 otu domain-containing protein 6b OTUD6B + @@ -214299,6 +245012,7 @@ otu domain-containing protein 7a otud7 OTUD7A + @@ -214322,6 +245036,7 @@ iodotyrosine dehalogenase 1 iodotyrosine deiodinase IYD + @@ -214346,6 +245061,7 @@ la ribonucleoprotein domain family, member 7 ptefb interaction protein for 7sk stability LARP7 + @@ -214370,6 +245086,7 @@ fat storage-inducing transmembrane protein 2 fat-inducing transcript 2 FITM2 + @@ -214471,6 +245188,7 @@ prolyl-trna synthetase 2 prolyl-trna synthetase, mitochondrial PARS2 + @@ -214569,6 +245287,7 @@ brain-expressed, associated with nedd4 brain-expressed, associated with nedd4, 1 BEAN1 + @@ -214607,6 +245326,7 @@ zfp36-like 2 zinc finger protein 36-like 2 ZFP36L2 + @@ -214634,6 +245354,7 @@ transmembrane domain recognition complex, 35-kd trc35 GET4 + @@ -214642,6 +245363,12 @@ + + + + + + @@ -214674,6 +245401,12 @@ + + + + + + @@ -214713,6 +245446,7 @@ RBM28 rna-binding motif protein 28 RBM28 + @@ -214773,6 +245507,7 @@ kiaa1858 zinc finger protein 469 ZNF469 + @@ -214780,6 +245515,12 @@ + + + + + + @@ -214813,6 +245554,7 @@ ubiquinol-cytochrome c reductase, complex 3 subunit 7 ubiquinol-cytochrome c reductase, complex 3 subunit vii, 9.5-kd UQCRQ + @@ -214837,6 +245579,7 @@ capicua, drosophila, homolog of kiaa0306 CIC + @@ -214877,6 +245620,7 @@ ost-alpha solute carrier family 51, subunit alpha SLC51A + @@ -214901,6 +245645,7 @@ ost-beta solute carrier family 51, subunit beta SLC51B + @@ -215014,6 +245759,7 @@ KLLN killin KLLN + @@ -215037,6 +245783,7 @@ chromosome 20 open reading frame 59 solute carrier family 17 (vesicular nucleotide transporter), member 9 SLC17A9 + @@ -215060,6 +245807,12 @@ + + + + + + @@ -215126,6 +245879,12 @@ + + + + + + @@ -215159,6 +245918,7 @@ cell death-inducing dffa-like effector c fat-specific protein 27 CIDEC + @@ -215181,6 +245941,7 @@ PNPLA1 patatin-like phospholipase domain-containing protein 1 PNPLA1 + @@ -215206,6 +245967,7 @@ phospholipase a2, calcium-independent, intracellular membrane-associated, gamma pnpla-gamma PNPLA8 + @@ -215256,6 +246018,7 @@ HSD17B13 short-chain dehydrogenase/reductase 9 HSD17B13 + @@ -215264,6 +246027,12 @@ + + + + + + @@ -215309,6 +246078,12 @@ + + + + + + @@ -215374,6 +246149,7 @@ two-pore channel 2 two-pore segment channel 2 TPCN2 + @@ -215382,6 +246158,12 @@ + + + + + + @@ -215433,6 +246215,7 @@ kiaa1915 myb-like, swirm, and mpn domains-containing protein 1 MYSM1 + @@ -215456,6 +246239,7 @@ arylamide acetylase 2 n-acetyltransferase 2 NAT2 + @@ -215515,6 +246299,7 @@ zfp57 zinc finger protein zinc finger protein 57, mouse, homolog of ZFP57 + @@ -215532,6 +246317,12 @@ + + + + + + @@ -215606,6 +246397,7 @@ galactosamine-6-sulfate sulfatase n-acetylgalactosamine-sulfate sulfatase GALNS + @@ -215697,6 +246489,12 @@ + + + + + + @@ -215778,6 +246576,12 @@ + + + + + + @@ -215827,6 +246631,12 @@ + + + + + + @@ -215895,6 +246705,7 @@ g protein-coupled receptor 126 vascular-inducible g protein-coupled receptor ADGRG6 + @@ -215949,6 +246760,7 @@ g protein-coupled receptor 161: gpr161 g protein-coupled receptor 161: gpr161 + @@ -216026,6 +246838,7 @@ microtubule-associated serine/threonine kinase 1 syntrophin-associated serine/threonine kinase MAST1 + @@ -216049,6 +246862,7 @@ kiaa0561 microtubule-associated serine/threonine kinase 3 MAST3 + @@ -216133,6 +246947,12 @@ + + + + + + @@ -216168,6 +246988,7 @@ tubulin tyrosine ligase-like 5 tubulin tyrosine ligase-like family, member 5 TTLL5 + @@ -216252,6 +247073,7 @@ yrdc domain-containing protein yrdc, e. coli, homolog of YRDC + @@ -216275,6 +247097,7 @@ adamts-like protein 2 kiaa0605 ADAMTSL2 + @@ -216328,6 +247151,7 @@ fucosidase, alpha-l, 1 fucosidase, alpha-l, tissue FUCA1 + @@ -216336,6 +247160,12 @@ + + + + + + @@ -216451,6 +247281,12 @@ + + + + + + @@ -216482,6 +247318,12 @@ + + + + + + @@ -216498,6 +247340,12 @@ + + + + + + @@ -216550,6 +247398,7 @@ mc7 tripartite motif-containing protein 44 TRIM44 + @@ -216557,6 +247406,12 @@ + + + + + + @@ -216669,6 +247524,12 @@ + + + + + + @@ -216719,6 +247580,12 @@ + + + + + + @@ -216755,6 +247622,7 @@ keratin 6e keratin 6h KRT6C + @@ -216790,6 +247658,12 @@ + + + + + + @@ -216809,6 +247683,12 @@ + + + + + + @@ -216852,6 +247732,7 @@ fast kinase domains 2 kiaa0971 FASTKD2 + @@ -216875,6 +247756,7 @@ coiled-coil domain-containing protein 34 ny-ren-41 CCDC34 + @@ -216941,6 +247823,12 @@ + + + + + + @@ -217007,6 +247895,7 @@ gamma-glutamyltransferase 1 ggt GGT1 + @@ -217067,6 +247956,12 @@ + + + + + + @@ -217099,6 +247994,7 @@ FOXI3 forkhead box i3 FOXI3 + @@ -217151,6 +248047,12 @@ + + + + + + @@ -217247,6 +248149,7 @@ NDUFAF5 chromosome 20 open reading frame 7 NDUFAF5 + @@ -217381,6 +248284,12 @@ + + + + + + @@ -217430,6 +248339,7 @@ equilibrative nucleoside transporter 3 solute carrier family 29 (nucleoside transporter), member 3: slc29a3 solute carrier family 29 (nucleoside transporter), member 3: slc29a3 + @@ -217457,6 +248367,7 @@ stimulator of interferon response cgamp interactor 1 transmembrane protein 173 STING1 + @@ -217554,6 +248465,7 @@ hspc296 mediator complex subunit 11 MED11 + @@ -217579,6 +248491,7 @@ heme synthetase iron chelatase FECH + @@ -217586,6 +248499,12 @@ + + + + + + @@ -217619,6 +248538,12 @@ + + + + + + @@ -217636,6 +248561,12 @@ + + + + + + @@ -217690,6 +248621,12 @@ + + + + + + @@ -217728,6 +248665,7 @@ ckb ethanolamine kinase, beta CHKB + @@ -217762,6 +248700,7 @@ tle family member 6, subcortical maternal complex member transducin-like enhancer of split 6 TLE6 + @@ -217881,6 +248820,7 @@ leucine-rich transmembrane o-methyltransferase This term has one or more labels that end with ', INCLUDED'. LRTOMT + @@ -217933,6 +248873,7 @@ TMEM70 transmembrane protein 70 TMEM70 + @@ -217968,6 +248909,12 @@ + + + + + + @@ -218003,6 +248950,7 @@ eyes shut, drosophila, homolog of spacemaker EYS + @@ -218039,6 +248987,12 @@ + + + + + + @@ -218086,6 +249040,12 @@ + + + + + + @@ -218112,6 +249072,12 @@ + + + + + + @@ -218176,6 +249142,7 @@ kiaa1267 msl1v1 KANSL1 + @@ -218228,6 +249195,7 @@ apolipoprotein 50 domain-containing 1 vascular early response gene APOLD1 + @@ -218332,6 +249300,7 @@ kiaa0603 tbc1 domain family, member 4 TBC1D4 + @@ -218376,6 +249345,7 @@ beta-alaat 2 beta-alanine pyruvate aminotransferase AGXT2 + @@ -218439,6 +249409,7 @@ ring finger protein 43 rnf124 RNF43 + @@ -218463,6 +249434,7 @@ ring finger protein 31 zinc, in-between-ring finger, and ubiquitin-associated domains RNF31 + @@ -218486,6 +249458,7 @@ adenylosuccinate synthase 1 adenylosuccinate synthase-like 1 ADSS1 + @@ -218509,6 +249482,7 @@ collectin 11 collectin, kidney, 1 COLEC11 + @@ -218532,6 +249506,7 @@ atp-binding cassette, subfamily a, member 5 kiaa1888 ABCA5 + @@ -218587,6 +249562,7 @@ chromosome 2 open reading frame 37 ddb1- and cul4-associated factor 17 DCAF17 + @@ -218611,6 +249587,7 @@ dynein, axonemal, assembly factor 2 kintoun, medaka, homolog of DNAAF2 + @@ -218619,6 +249596,12 @@ + + + + + + @@ -218706,6 +249689,12 @@ + + + + + + @@ -218723,6 +249712,12 @@ + + + + + + @@ -218740,6 +249735,12 @@ + + + + + + @@ -218787,6 +249788,12 @@ + + + + + + @@ -218829,6 +249836,12 @@ + + + + + + @@ -218877,6 +249890,12 @@ + + + + + + @@ -218943,6 +249962,12 @@ + + + + + + @@ -218960,6 +249985,12 @@ + + + + + + @@ -218978,6 +250009,12 @@ + + + + + + @@ -218995,6 +250032,12 @@ + + + + + + @@ -219086,6 +250129,12 @@ + + + + + + @@ -219212,6 +250261,12 @@ + + + + + + @@ -219278,6 +250333,7 @@ sphingolipid transporter 2 spinster, drosophila, homolog of, 2 SPNS2 + @@ -219466,6 +250522,12 @@ + + + + + + @@ -219542,6 +250604,7 @@ lmbr1 domain-containing protein 1: lmbrd1 nes-interacting protein lmbr1 domain-containing protein 1: lmbrd1 + @@ -219622,6 +250685,12 @@ + + + + + + @@ -219667,6 +250736,12 @@ + + + + + + @@ -219722,6 +250797,7 @@ unc80 homolog, nalcn channel complex subunit unc80, c. elegans, homolog of UNC80 + @@ -219763,6 +250839,7 @@ NDUFA11 nadh-ubiquinone oxidoreductase subunit a11 NDUFA11 + @@ -219806,6 +250883,7 @@ ankyrin, erythroid This term has one or more labels that end with ', INCLUDED'. ANK1 + @@ -219880,6 +250958,7 @@ radial spoke head 4, chlamydomonas, homolog of, a radial spoke head component 4a RSPH4A + @@ -219903,6 +250982,7 @@ radial spoke head 9, chlamydomonas, homolog of radial spoke head component 9 RSPH9 + @@ -219911,6 +250991,12 @@ + + + + + + @@ -219929,6 +251015,12 @@ + + + + + + @@ -219994,6 +251086,7 @@ tbc1 domain family, member 7 tbc7 TBC1D7 + @@ -220002,6 +251095,12 @@ + + + + + + @@ -220045,6 +251144,7 @@ regulatory factor x, 6 rfxdc1 RFX6 + @@ -220068,6 +251168,7 @@ regulatory factor x, 7 rfxdc2 RFX7 + @@ -220092,6 +251193,7 @@ wd repeat-containing protein 79 wd repeat-containing protein antisense to tp53 WRAP53 + @@ -220151,6 +251253,12 @@ + + + + + + @@ -220183,6 +251291,7 @@ dihydropteridine reductase quinoid dihydropteridine reductase QDPR + @@ -220206,6 +251315,7 @@ tektin 3 testicular microtubules-related protein TEKT3 + @@ -220228,6 +251338,7 @@ RNF168 ring finger protein 168 RNF168 + @@ -220235,6 +251346,12 @@ + + + + + + @@ -220263,6 +251380,12 @@ + + + + + + @@ -220281,6 +251404,12 @@ + + + + + + @@ -220298,6 +251427,12 @@ + + + + + + @@ -220316,6 +251451,12 @@ + + + + + + @@ -220345,6 +251486,12 @@ + + + + + + @@ -220377,6 +251524,12 @@ + + + + + + @@ -220442,6 +251595,7 @@ PTS ptps PTS + @@ -220467,6 +251621,7 @@ aldolase b, fructose-bisphosphate fructose-1,6-bisphosphate aldolase B ALDOB + @@ -220571,6 +251726,12 @@ + + + + + + @@ -220622,6 +251783,7 @@ sperm acrosome membrane-associated protein 32 sperm acrosome-associated protein 1 SPACA1 + @@ -220661,6 +251823,7 @@ collagen and calcium-binding egf domain-containing protein 1 kiaa1983 CCBE1 + @@ -220683,6 +251846,7 @@ GPIHBP1 glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 GPIHBP1 + @@ -220706,6 +251870,7 @@ cytomegalovirus gh fusion receptor transmembrane anterior posterior transformation 1 TAPT1 + @@ -220783,6 +251948,7 @@ psd pssc PISD + @@ -220805,6 +251971,7 @@ DUOXA2 dual oxidase maturation factor 2 DUOXA2 + @@ -220844,6 +252011,12 @@ + + + + + + @@ -221035,6 +252208,7 @@ phosphatidylserine synthase 1 pss1 PTDSS1 + @@ -221127,6 +252301,7 @@ kiaa1970 mitochondrial glurs EARS2 + @@ -221151,6 +252326,7 @@ cysteinyl-trna synthetase, mitochondrial mitochondrial cysrs CARS2 + @@ -221175,6 +252351,7 @@ isoleucyl-trna synthetase, mitochondrial mitochondrial ilers IARS2 + @@ -221200,6 +252377,7 @@ valyl-trna synthetase 2 valyl-trna synthetase, mitochondrial VARS2 + @@ -221254,6 +252432,7 @@ seryl-trna synthetase 2 seryl-trna synthetase, mitochondrial SARS2 + @@ -221278,6 +252457,7 @@ threonyl-trna synthetase 2 threonyl-trna synthetase, mitochondrial TARS2 + @@ -221313,6 +252493,7 @@ ll5a pleckstrin homology-like domain, family b, member 1 PHLDB1 + @@ -221337,6 +252518,7 @@ phospholipase c like-3 phospholipase c, eta-1 PLCH1 + @@ -221361,6 +252543,7 @@ coenzyme 9 coq9, s. cerevisiae, homolog of COQ9 + @@ -221411,6 +252594,12 @@ + + + + + + @@ -221437,6 +252626,12 @@ + + + + + + @@ -221464,6 +252659,12 @@ + + + + + + @@ -221498,6 +252699,7 @@ SDHAF1 succinate dehydrogenase complex assembly factor 1 SDHAF1 + @@ -221521,6 +252723,7 @@ tubulin, beta, class 2b tubulin, beta-2b TUBB2B + @@ -221705,6 +252908,7 @@ ddb1- and cul4-associated factor 14 pleckstrin homology domain-interacting protein PHIP + @@ -221712,6 +252916,12 @@ + + + + + + @@ -221776,6 +252986,7 @@ kiaa0624 synaptotagmin-like protein lacking c2 domains B EXPH5 + @@ -221850,6 +253061,12 @@ + + + + + + @@ -221947,6 +253164,7 @@ NXN nucleoredoxin NXN + @@ -221995,6 +253213,12 @@ + + + + + + @@ -222027,6 +253251,30 @@ tubulin, beta, class 6 tubulin, beta-1 TUBB1 + + + + + + + + + + + + + + + + + + + + + RAB32 + ras-associated protein rab32 + RAB32 + @@ -222092,6 +253340,7 @@ NADH dehydrogenase 1 alpha subcomplex, assembly factor 3 NDUFAF3 NDUFAF3 + @@ -222182,6 +253431,12 @@ + + + + + + @@ -222200,6 +253455,12 @@ + + + + + + @@ -222297,6 +253558,7 @@ phosphoglycerate mutase 2 phosphoglycerate mutase, muscle PGAM2 + @@ -222305,6 +253567,12 @@ + + + + + + @@ -222325,6 +253593,12 @@ + + + + + + @@ -222353,6 +253627,12 @@ + + + + + + @@ -222440,6 +253720,7 @@ ribonuclease t2 rnase6pl RNASET2 + @@ -222477,6 +253758,12 @@ + + + + + + @@ -222514,6 +253801,12 @@ + + + + + + @@ -222564,6 +253857,12 @@ + + + + + + @@ -222624,6 +253923,7 @@ translational activator of mitochondrially encoded cytochrome c oxidase subunit 1 translational activator of mtco1 TACO1 + @@ -222647,6 +253947,7 @@ epithelial splicing regulatory protein 1 rna-binding motif protein 35a ESRP1 + @@ -222655,6 +253956,12 @@ + + + + + + @@ -222774,6 +254081,12 @@ + + + + + + @@ -222823,6 +254136,7 @@ TMEM126A transmembrane protein 126a TMEM126A + @@ -222831,6 +254145,12 @@ + + + + + + @@ -222894,6 +254214,7 @@ asxl transcriptional regulator 2 kiaa1685 ASXL2 + @@ -222916,6 +254237,7 @@ RAB28 ras-associated protein 28 RAB28 + @@ -222924,6 +254246,12 @@ + + + + + + @@ -222954,6 +254282,12 @@ + + + + + + @@ -223127,6 +254461,7 @@ o-phosphoserine trna-selenocysteine trna synthase soluble liver antigen SEPSECS + @@ -223135,6 +254470,12 @@ + + + + + + @@ -223167,6 +254508,7 @@ urocanase urocanase domain-containing protein 1 UROC1 + @@ -223186,6 +254528,12 @@ + + + + + + @@ -223266,6 +254614,7 @@ tat, soluble tyrosine aminotransferase TAT + @@ -223290,6 +254639,7 @@ succinate dehydrogenase 5 succinate dehydrogenase complex assembly factor 2 SDHAF2 + @@ -223335,6 +254685,7 @@ e1k oxoglutarate dehydrogenase OGDH + @@ -223391,6 +254742,12 @@ + + + + + + @@ -223465,6 +254822,12 @@ + + + + + + @@ -223534,6 +254897,7 @@ mitochondrial processing peptidase-alpha peptidase, mitochondrial processing, alpha PMPCA + @@ -223570,6 +254934,12 @@ + + + + + + @@ -223603,6 +254973,7 @@ coiled-coil domain-containing protein 26 retinoic acid modulator CCDC26 + @@ -223656,6 +255027,12 @@ + + + + + + @@ -223747,6 +255124,18 @@ + + + + + + + + + + + + @@ -223793,6 +255182,12 @@ + + + + + + @@ -223846,6 +255241,7 @@ LOXHD1 lipoxygenase homology domain-containing 1 LOXHD1 + @@ -223853,6 +255249,12 @@ + + + + + + @@ -223870,6 +255272,12 @@ + + + + + + @@ -223886,6 +255294,12 @@ + + + + + + @@ -223903,6 +255317,12 @@ + + + + + + @@ -223933,6 +255353,12 @@ + + + + + + @@ -223953,6 +255379,12 @@ + + + + + + @@ -223970,6 +255402,12 @@ + + + + + + @@ -224006,6 +255444,7 @@ kiaa1106 myelin transcription factor 1-like MYT1L + @@ -224040,6 +255479,12 @@ + + + + + + @@ -224084,6 +255529,12 @@ + + + + + + @@ -224101,6 +255552,12 @@ + + + + + + @@ -224139,6 +255596,12 @@ + + + + + + @@ -224169,6 +255632,12 @@ + + + + + + @@ -224232,6 +255701,12 @@ + + + + + + @@ -224249,6 +255724,12 @@ + + + + + + @@ -224265,6 +255746,12 @@ + + + + + + @@ -224347,6 +255834,7 @@ GM2A gm2 activator GM2A + @@ -224374,6 +255862,7 @@ cathepsin a protective protein/cathepsin a CTSA + @@ -224382,6 +255871,12 @@ + + + + + + @@ -224462,6 +255957,7 @@ jk1 reticulophagy regulator 1 RETREG1 + @@ -224470,6 +255966,12 @@ + + + + + + @@ -224487,6 +255989,12 @@ + + + + + + @@ -224506,6 +256014,12 @@ + + + + + + @@ -224524,6 +256038,12 @@ + + + + + + @@ -224632,6 +256152,7 @@ stn1, cst complex subunit stn1, s. pombe, homolog of STN1 + @@ -224656,6 +256177,7 @@ chromosome 17 open reading frame 68 conserved telomere maintenance component 1 CTC1 + @@ -224692,6 +256214,7 @@ new est tetraspan 2 tetraspanin 12 TSPAN12 + @@ -224746,6 +256269,7 @@ mirna184 This term has one or more labels that end with ', INCLUDED'. MIR184 + @@ -224754,6 +256278,12 @@ + + + + + + @@ -224886,6 +256416,12 @@ + + + + + + @@ -224937,6 +256473,12 @@ + + + + + + @@ -224954,6 +256496,12 @@ + + + + + + @@ -224970,6 +256518,12 @@ + + + + + + @@ -225049,6 +256603,7 @@ alpha-2-plasmin inhibitor serpin peptidase inhibitor, clade f, member 2 SERPINF2 + @@ -225071,6 +256626,7 @@ KLHDC8B kelch domain-containing protein 8b KLHDC8B + @@ -225093,6 +256649,7 @@ RBM20 rna-binding motif protein 20 RBM20 + @@ -225101,6 +256658,12 @@ + + + + + + @@ -225148,6 +256711,7 @@ chromosome 17 open reading frame 71 smg8 nonsense-mediated mrna decay factor SMG8 + @@ -225185,6 +256749,12 @@ + + + + + + @@ -225203,6 +256773,12 @@ + + + + + + @@ -225244,6 +256820,7 @@ bola family member 3 bola, e. coli, homolog of, 3 BOLA3 + @@ -225268,6 +256845,7 @@ leucine-rich repeat-containing protein 50 oda7, chlamydomonas, homolog of DNAAF1 + @@ -225276,6 +256854,12 @@ + + + + + + @@ -225294,6 +256878,12 @@ + + + + + + @@ -225325,6 +256915,12 @@ + + + + + + @@ -225342,6 +256938,12 @@ + + + + + + @@ -225415,6 +257017,7 @@ xpc gene xpcc gene XPC + @@ -225423,6 +257026,12 @@ + + + + + + @@ -225478,6 +257087,7 @@ WDR72 wd repeat-containing protein 72 WDR72 + @@ -225501,6 +257111,12 @@ + + + + + + @@ -225549,6 +257165,7 @@ cytochrome b5, type a (microsomal) microsomal cytochrome b5 CYB5A + @@ -225614,6 +257231,12 @@ + + + + + + @@ -225649,6 +257272,7 @@ aspartylglucosaminidase glycosylasparaginase AGA + @@ -225683,6 +257307,7 @@ peptidase d prolidase PEPD + @@ -225706,6 +257331,7 @@ kiaa1236 kinesin family member 26a KIF26A + @@ -225729,6 +257355,12 @@ + + + + + + @@ -225760,6 +257392,7 @@ kir2.6 potassium channel, inwardly rectifying, subfamily j, member 18 KCNJ18 + @@ -225797,6 +257430,12 @@ + + + + + + @@ -225862,6 +257501,7 @@ perilipin 4 s3-12 PLIN4 + @@ -225940,6 +257580,7 @@ crep protein phosphatase 1, regulatory subunit 15b PPP1R15B + @@ -226063,6 +257704,7 @@ mcs molybdenum cofactor sulfurase MOCOS + @@ -226087,6 +257729,7 @@ u6 small nuclear RNA biogenesis phosphodiesterase 1 u6 snrna biogenesis phosphodiesterase 1 USB1 + @@ -226142,6 +257785,7 @@ slx4 structure-specific endonuclease subunit slx4, s. cerevisiae, homolog of SLX4 + @@ -226165,6 +257809,7 @@ suppressor of tau 2, c. elegans, homolog of zinc finger ccch domain-containing protein 14: zc3h14 zinc finger ccch domain-containing protein 14: zc3h14 + @@ -226173,6 +257818,12 @@ + + + + + + @@ -226223,6 +257874,7 @@ GRXCR1 glutaredoxin, cysteine-rich, 1 GRXCR1 + @@ -226248,6 +257900,12 @@ + + + + + + @@ -226303,6 +257961,7 @@ ATXN8 ataxin 8 ATXN8 + @@ -226326,6 +257985,12 @@ + + + + + + @@ -226360,6 +258025,7 @@ sh3 and px domains-containing protein 2b tyrosine kinase substrate with 4 sh3 domains SH3PXD2B + @@ -226384,6 +258050,7 @@ uba2, s. cerevisiae, homolog of ubiquitin-like modifier-activating enzyme 2 UBA2 + @@ -226410,6 +258077,7 @@ membrane-associated ring-ch finger protein 6 teb4 MARCHF6 + @@ -226434,6 +258102,7 @@ forebrain embryonic zinc finger zinc finger protein 312b FEZF1 + @@ -226458,6 +258127,7 @@ alkb homolog 8, trna methyltransferase alkb, e. coli, homolog of, 8 ALKBH8 + @@ -226466,6 +258136,12 @@ + + + + + + @@ -226483,6 +258159,12 @@ + + + + + + @@ -226500,6 +258182,12 @@ + + + + + + @@ -226517,6 +258205,12 @@ + + + + + + @@ -226550,6 +258244,7 @@ isd11, s. cerevisiae, homolog of lyr motif-containing protein 4 LYRM4 + @@ -226569,6 +258264,12 @@ + + + + + + @@ -226616,6 +258317,12 @@ + + + + + + @@ -226660,6 +258367,7 @@ DPYS dihydropyrimidinase DPYS + @@ -226668,6 +258376,12 @@ + + + + + + @@ -226686,6 +258400,12 @@ + + + + + + @@ -226713,6 +258433,12 @@ + + + + + + @@ -226814,6 +258540,7 @@ kiaa1549 gene This term has one or more labels that end with ', INCLUDED'. KIAA1549 + @@ -226868,6 +258595,7 @@ ornithine delta-aminotransferase ornithine keto acid aminotransferase OAT + @@ -226922,6 +258650,7 @@ arginine/serine-rich coiled-coil protein 1 sr-related protein, 53-kd RSRC1 + @@ -226956,6 +258685,7 @@ chromosome 9 open reading frame 75 taperin TPRN + @@ -226994,6 +258724,7 @@ damage-regulated autophagy modulator 2 transmembrane protein 77 DRAM2 + @@ -227016,6 +258747,7 @@ WDR34 wd repeat-containing protein 34 WDR34 + @@ -227083,6 +258815,7 @@ kiaa1197 yeats domain-containing protein 2 YEATS2 + @@ -227090,6 +258823,12 @@ + + + + + + @@ -227107,6 +258846,12 @@ + + + + + + @@ -227149,6 +258894,12 @@ + + + + + + @@ -227165,6 +258916,12 @@ + + + + + + @@ -227279,6 +259036,12 @@ + + + + + + @@ -227310,6 +259073,7 @@ AVIL advillin AVIL + @@ -227317,6 +259081,12 @@ + + + + + + @@ -227366,6 +259136,7 @@ vps33b-interacting protein, apical-basolateral polarity regulator vps33b-interacting protein, apical-basolateral polarity regulator, spe39 homolog VIPAS39 + @@ -227401,6 +259172,7 @@ TMEM127 transmembrane protein 127 TMEM127 + @@ -227409,6 +259181,12 @@ + + + + + + @@ -227442,6 +259220,7 @@ mirn2861 mirna 2861 MIR2861 + @@ -227449,6 +259228,12 @@ + + + + + + @@ -227501,6 +259286,7 @@ fatty acid metabolism-immunity nexus protein laccase (multicopper reductase) domain-containing protein 1 LACC1 + @@ -227509,6 +259295,12 @@ + + + + + + @@ -227527,6 +259319,12 @@ + + + + + + @@ -227574,6 +259372,7 @@ TMEM106B transmembrane protein 106b TMEM106B + @@ -227581,6 +259380,12 @@ + + + + + + @@ -227615,6 +259420,7 @@ KCTD1 potassium channel tetramerization domain-containing protein 1 KCTD1 + @@ -227652,6 +259458,7 @@ chromosome 2 open reading frame 71 photoreceptor cilium actin regulator PCARE + @@ -227675,6 +259482,12 @@ + + + + + + @@ -227705,6 +259518,12 @@ + + + + + + @@ -227736,6 +259555,7 @@ FCHO1 fch domain only protein 1 FCHO1 + @@ -227776,6 +259596,7 @@ transcobalamin 2 vitamin b12-binding protein 2 TCN2 + @@ -227864,6 +259685,12 @@ + + + + + + @@ -227880,6 +259707,12 @@ + + + + + + @@ -227914,6 +259747,7 @@ tango transport and golgi organization gene 1 MIA3 + @@ -227922,6 +259756,12 @@ + + + + + + @@ -228020,6 +259860,12 @@ + + + + + + @@ -228096,6 +259942,7 @@ heparanase 2 hpa2 HPSE2 + @@ -228103,6 +259950,12 @@ + + + + + + @@ -228167,6 +260020,7 @@ coiled-coil domain-containing protein 62: ccdc62 estrogen receptor-associated protein, 75-kd coiled-coil domain-containing protein 62: ccdc62 + @@ -228193,6 +260047,7 @@ spen family transcriptional repressor spen, drosophila, homolog of SPEN + @@ -228249,6 +260104,12 @@ + + + + + + @@ -228267,6 +260128,12 @@ + + + + + + @@ -228285,6 +260152,12 @@ + + + + + + @@ -228303,6 +260176,12 @@ + + + + + + @@ -228368,6 +260247,12 @@ + + + + + + @@ -228386,6 +260271,12 @@ + + + + + + @@ -228404,6 +260295,12 @@ + + + + + + @@ -228422,6 +260319,12 @@ + + + + + + @@ -228497,6 +260400,7 @@ run domain- and cysteine-rich domain-containing beclin-1-interacting protein rundataxin RUBCN + @@ -228505,6 +260409,12 @@ + + + + + + @@ -228595,6 +260505,7 @@ blue cone pigment opsin 1, short-wave-sensitive OPN1SW + @@ -228730,6 +260641,7 @@ kiaa1018 myotubularin-related protein 15 FAN1 + @@ -228900,6 +260812,12 @@ + + + + + + @@ -228932,6 +260850,7 @@ aminopeptidase p3 x-prolyl aminopeptidase 3 XPNPEP3 + @@ -228972,6 +260891,7 @@ tet methylcytosine dioxygenase 3 tet oncogene family, member 3 TET3 + @@ -229018,6 +260938,12 @@ + + + + + + @@ -229084,6 +261010,12 @@ + + + + + + @@ -229225,6 +261157,12 @@ + + + + + + @@ -229257,6 +261195,7 @@ chromosome 19 open reading frame 14 wd repeat-containing protein 62 WDR62 + @@ -229279,6 +261218,7 @@ TMEM147 transmembrane protein 147 TMEM147 + @@ -229297,6 +261237,12 @@ + + + + + + @@ -229328,6 +261274,7 @@ FAM161A family with sequence similarity 161, member a FAM161A + @@ -229351,6 +261298,7 @@ HOGA1 dihydrodipicolinate synthase-like, mitochondrial HOGA1 + @@ -229373,6 +261321,7 @@ ZNF513 zinc finger protein 513 ZNF513 + @@ -229395,6 +261344,7 @@ ABHD12 abhydrolase domain-containing protein 12, lysophospholipase ABHD12 + @@ -229501,6 +261451,7 @@ bbsome-interacting protein 1 noncoding RNA 81, formerly BBIP1 + @@ -229526,6 +261477,12 @@ + + + + + + @@ -229560,6 +261517,7 @@ hlah homeostatic iron regulator HFE + @@ -229578,6 +261536,12 @@ + + + + + + @@ -229595,6 +261559,12 @@ + + + + + + @@ -229624,6 +261594,12 @@ + + + + + + @@ -229641,6 +261617,12 @@ + + + + + + @@ -229689,6 +261671,7 @@ scavenger receptor expressed by endothelial cells 2 srec 2 SCARF2 + @@ -229712,6 +261695,7 @@ iron-sulfur protein required for NADH dehydrogenase nucleotide-binding protein-like protein NUBPL + @@ -229734,6 +261718,7 @@ FOXRED1 fad-dependent oxidoreductase domain-containing protein 1 FOXRED1 + @@ -229750,6 +261735,12 @@ + + + + + + @@ -229861,6 +261852,7 @@ eukaryotic translation initiation factor 2-alpha kinase 1 heme-regulated inhibitor EIF2AK1 + @@ -229920,6 +261912,12 @@ + + + + + + @@ -229973,6 +261971,12 @@ + + + + + + @@ -229990,6 +261994,12 @@ + + + + + + @@ -230007,6 +262017,12 @@ + + + + + + @@ -230041,6 +262057,7 @@ kiaa0415 spg48 gene AP5Z1 + @@ -230065,6 +262082,7 @@ twik-related individual k+ channel twik-related spinal cord k+ channel KCNK18 + @@ -230073,6 +262091,12 @@ + + + + + + @@ -230090,6 +262114,12 @@ + + + + + + @@ -230107,6 +262137,12 @@ + + + + + + @@ -230127,6 +262163,12 @@ + + + + + + @@ -230160,6 +262202,12 @@ + + + + + + @@ -230281,6 +262329,7 @@ asparagine-linked glycosylation 11, s. cerevisiae, homolog of kiaa0266 ALG11 + @@ -230305,6 +262354,7 @@ sine oculis-binding protein homolog sine oculis-binding protein, drosophila, homolog of SOBP + @@ -230312,6 +262362,12 @@ + + + + + + @@ -230345,6 +262401,7 @@ poly(a) polymerase, mitochondrial poly(a) polymerase-associated domain-containing protein 1 MTPAP + @@ -230352,12 +262409,19 @@ + + + + + + + IDDLA intellectual developmental disorder with language impairment and with or without autistic features mental retardation with language impairment and with or without autistic features intellectual developmental disorder with language impairment and with or without autistic features @@ -230368,6 +262432,12 @@ + + + + + + @@ -230386,6 +262456,12 @@ + + + + + + @@ -230415,6 +262491,12 @@ + + + + + + @@ -230495,6 +262577,12 @@ + + + + + + @@ -230557,6 +262645,12 @@ + + + + + + @@ -230574,6 +262668,12 @@ + + + + + + @@ -230689,6 +262789,7 @@ carnitine-acylcarnitine translocase solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 SLC25A20 + @@ -230746,6 +262847,12 @@ + + + + + + @@ -230817,6 +262924,12 @@ + + + + + + @@ -230861,6 +262974,7 @@ polymerase i, rna, subunit d rpac2 POLR1D + @@ -230869,6 +262983,12 @@ + + + + + + @@ -230886,6 +263006,12 @@ + + + + + + @@ -230917,6 +263043,7 @@ MSRB3 methionine sulfoxide reductase b3 MSRB3 + @@ -230949,6 +263076,12 @@ + + + + + + @@ -230978,6 +263111,12 @@ + + + + + + @@ -231011,6 +263150,7 @@ anoctamin 10 transmembrane protein 16k ANO10 + @@ -231033,6 +263173,7 @@ KBTBD13 kelch repeat- and btb/poz domain-containing protein 13 KBTBD13 + @@ -231041,6 +263182,12 @@ + + + + + + @@ -231073,6 +263220,12 @@ + + + + + + @@ -231150,6 +263303,7 @@ coiled-coil domain-containing protein 115 coiled-coil protein 1 CCDC115 + @@ -231157,6 +263311,12 @@ + + + + + + @@ -231176,6 +263336,12 @@ + + + + + + @@ -231228,6 +263394,7 @@ glycogen phosphorylase, liver lgp PYGL + @@ -231252,6 +263419,7 @@ glucose-6-phosphatase, catalytic glucose-6-phosphatase, catalytic, 1 G6PC + @@ -231259,6 +263427,12 @@ + + + + + + @@ -231301,6 +263475,12 @@ + + + + + + @@ -231317,6 +263497,12 @@ + + + + + + @@ -231333,6 +263519,12 @@ + + + + + + @@ -231372,6 +263564,12 @@ + + + + + + @@ -231402,6 +263600,12 @@ + + + + + + @@ -231445,6 +263649,12 @@ + + + + + + @@ -231480,6 +263690,7 @@ ring finger protein 213 This term has one or more labels that end with ', INCLUDED'. RNF213 + @@ -231488,6 +263699,12 @@ + + + + + + @@ -231519,6 +263736,7 @@ CAMSAP1 calmodulin-regulated spectrin-associated protein 1 CAMSAP1 + @@ -231542,6 +263760,12 @@ + + + + + + @@ -231619,6 +263843,7 @@ complement component 1, r subcomponent complement component c1r C1R + @@ -231626,6 +263851,12 @@ + + + + + + @@ -231646,6 +263877,12 @@ + + + + + + @@ -231666,6 +263903,12 @@ + + + + + + @@ -231721,6 +263964,12 @@ + + + + + + @@ -231768,6 +264017,7 @@ CCDC39 coiled-coil domain-containing protein 39 CCDC39 + @@ -231791,6 +264041,7 @@ coiled-coil domain-containing protein 40 kiaa1640 CCDC40 + @@ -231799,6 +264050,12 @@ + + + + + + @@ -231827,6 +264084,12 @@ + + + + + + @@ -231844,6 +264107,12 @@ + + + + + + @@ -231861,6 +264130,12 @@ + + + + + + @@ -231894,6 +264169,12 @@ + + + + + + @@ -231912,6 +264193,12 @@ + + + + + + @@ -231941,6 +264228,12 @@ + + + + + + @@ -231958,6 +264251,12 @@ + + + + + + @@ -232001,6 +264300,7 @@ TTC19 tetratricopeptide repeat domain-containing protein 19 TTC19 + @@ -232053,6 +264353,7 @@ UBR7 ubiquitin protein ligase e3 component n-recognin 7 UBR7 + @@ -232145,6 +264446,12 @@ + + + + + + @@ -232191,6 +264498,12 @@ + + + + + + @@ -232268,6 +264581,12 @@ + + + + + + @@ -232284,6 +264603,12 @@ + + + + + + @@ -232316,6 +264641,7 @@ gdnf-inducible zinc finger protein 1 zinc finger protein 336 GZF1 + @@ -232355,6 +264681,7 @@ ubiquinol-cytochrome c reductase hinge protein This term has one or more labels that end with ', INCLUDED'. UQCRH + @@ -232362,6 +264689,12 @@ + + + + + + @@ -232451,6 +264784,12 @@ + + + + + + @@ -232478,6 +264817,12 @@ + + + + + + @@ -232524,6 +264869,12 @@ + + + + + + @@ -232572,6 +264923,7 @@ PRSS56 protease, serine, 56 PRSS56 + @@ -232580,6 +264932,12 @@ + + + + + + @@ -232612,6 +264970,12 @@ + + + + + + @@ -232651,6 +265015,12 @@ + + + + + + @@ -232686,6 +265056,7 @@ phospholipase a and acyltransferase 3 phospholipase a2, group 16 PLAAT3 + @@ -232711,6 +265082,7 @@ ut11 utb, mouse, homolog of SLC14A1 + @@ -232755,6 +265127,7 @@ fumarylacetoacetase fumarylacetoacetate hydrolase FAH + @@ -232777,6 +265150,7 @@ F10 coagulation factor 10 F10 + @@ -232827,6 +265201,12 @@ + + + + + + @@ -232928,6 +265308,7 @@ kell blood group glycoprotein kell blood group metalloendopeptidase KEL + @@ -232973,6 +265354,12 @@ + + + + + + @@ -233007,6 +265394,7 @@ 3-beta-hydroxysteroid dehydrogenase/delta-isomerase, type 2 HSD3B2 HSD3B2 + @@ -233031,6 +265419,7 @@ orotidylic decarboxylase uridine monophosphate synthetase UMPS + @@ -233053,6 +265442,7 @@ DPY19L2 dpy19-like 2 DPY19L2 + @@ -233078,6 +265468,7 @@ BPGM bisphosphoglycerate mutase BPGM + @@ -233100,6 +265491,7 @@ FANCF fancf gene FANCF + @@ -233124,6 +265516,7 @@ hl hmg-coa lyase HMGCL + @@ -233147,6 +265540,7 @@ fac fancc gene FANCC + @@ -233171,6 +265565,7 @@ transglutaminase 6 transglutaminase y TGM6 + @@ -233179,6 +265574,12 @@ + + + + + + @@ -233212,6 +265613,12 @@ + + + + + + @@ -233255,6 +265662,7 @@ zinc finger- and btb domain-containing protein 42: zbtb42 znf925 zinc finger- and btb domain-containing protein 42: zbtb42 + @@ -233290,6 +265698,7 @@ cytochrome c oxidase assembly factor 5 pet191, s. cerevisiae, homolog of COA5 + @@ -233313,6 +265722,7 @@ lipase family, member n lipase-like abhydrolase domain-containing protein 4 LIPN + @@ -233403,6 +265813,7 @@ TOE1 target of egr1 TOE1 + @@ -233426,6 +265837,7 @@ cardiac troponin i-interacting kinase tnni3-interacting kinase TNNI3K + @@ -233433,6 +265845,12 @@ + + + + + + @@ -233513,6 +265931,7 @@ sun domain-containing protein 5 testis- and spermatogenesis-related gene 4 SUN5 + @@ -233521,6 +265940,12 @@ + + + + + + @@ -233580,6 +266005,12 @@ + + + + + + @@ -233597,6 +266028,12 @@ + + + + + + @@ -233628,6 +266065,12 @@ + + + + + + @@ -233645,6 +266088,12 @@ + + + + + + @@ -233674,6 +266123,12 @@ + + + + + + @@ -233711,6 +266166,12 @@ + + + + + + @@ -233794,6 +266255,7 @@ FANCE fance gene FANCE + @@ -233845,6 +266307,7 @@ snrnp102 tom PRPF6 + @@ -233876,6 +266339,12 @@ + + + + + + @@ -233893,6 +266362,12 @@ + + + + + + @@ -233924,6 +266399,7 @@ FANCD2 fancd2 gene FANCD2 + @@ -233958,6 +266434,12 @@ + + + + + + @@ -233975,6 +266457,12 @@ + + + + + + @@ -234040,6 +266528,12 @@ + + + + + + @@ -234058,6 +266552,12 @@ + + + + + + @@ -234093,6 +266593,7 @@ lithium-inhibited phosphomonoesterase myoinositol monophosphatase a3 IMPAD1 + @@ -234119,6 +266620,7 @@ diacylglycerol lipase, alpha kiaa0659 DAGLA + @@ -234127,6 +266629,12 @@ + + + + + + @@ -234167,6 +266675,12 @@ + + + + + + @@ -234185,6 +266699,12 @@ + + + + + + @@ -234212,6 +266732,12 @@ + + + + + + @@ -234228,6 +266754,12 @@ + + + + + + @@ -234254,6 +266786,12 @@ + + + + + + @@ -234291,6 +266829,12 @@ + + + + + + @@ -234441,6 +266985,12 @@ + + + + + + @@ -234460,6 +267010,12 @@ + + + + + + @@ -234504,6 +267060,7 @@ fructokinase, hepatic ketohexokinase KHK + @@ -234529,6 +267086,7 @@ mrck-beta myotonic dystrophy kinase-related cdc42-binding kinase, beta CDC42BPB + @@ -234536,6 +267094,12 @@ + + + + + + @@ -234572,6 +267136,7 @@ zinc finger protein 450 zinc finger- and btb domain-containing protein 24 ZBTB24 + @@ -234592,6 +267157,12 @@ + + + + + + @@ -234610,6 +267181,12 @@ + + + + + + @@ -234664,6 +267241,12 @@ + + + + + + @@ -234714,6 +267297,7 @@ myocardium-enriched zo1-associated protein This term has one or more labels that end with ', INCLUDED'. MYZAP + @@ -234722,6 +267306,12 @@ + + + + + + @@ -234739,6 +267329,12 @@ + + + + + + @@ -234756,6 +267352,12 @@ + + + + + + @@ -234773,6 +267375,12 @@ + + + + + + @@ -234790,6 +267398,12 @@ + + + + + + @@ -234807,6 +267421,12 @@ + + + + + + @@ -234823,6 +267443,12 @@ + + + + + + @@ -234839,6 +267465,12 @@ + + + + + + @@ -234855,6 +267487,12 @@ + + + + + + @@ -234886,6 +267524,12 @@ + + + + + + @@ -234903,6 +267547,12 @@ + + + + + + @@ -234936,6 +267586,7 @@ wee1, s. pombe, homolog of, 2 wee1b WEE2 + @@ -234960,6 +267611,7 @@ multiciliate differentiation and DNA synthesis-associated cell cycle protein multicilin MCIDAS + @@ -234994,6 +267646,7 @@ intracellular adhesion molecule 4 lw gene ICAM4 + @@ -235054,6 +267707,7 @@ rab-interacting lysosomal protein-like 1 rilp-like protein 1 RILPL1 + @@ -235090,6 +267744,12 @@ + + + + + + @@ -235107,6 +267767,12 @@ + + + + + + @@ -235153,6 +267819,12 @@ + + + + + + @@ -235180,6 +267852,12 @@ + + + + + + @@ -235197,6 +267875,12 @@ + + + + + + @@ -235231,6 +267915,7 @@ chromosome 6 open reading frame 142 muscular lmna-interacting protein MLIP + @@ -235254,6 +267939,7 @@ importin alpha-8 karyopherin alpha-7 KPNA7 + @@ -235262,6 +267948,12 @@ + + + + + + @@ -235297,6 +267989,12 @@ + + + + + + @@ -235313,6 +268011,12 @@ + + + + + + @@ -235353,6 +268057,12 @@ + + + + + + @@ -235384,6 +268094,7 @@ TMCO1 transmembrane and coiled-coil domains protein 1 TMCO1 + @@ -235391,6 +268102,12 @@ + + + + + + @@ -235408,6 +268125,12 @@ + + + + + + @@ -235426,6 +268149,12 @@ + + + + + + @@ -235490,6 +268219,7 @@ chromosome 4 open reading frame 41 trafficking protein particle complex, subunit 11 TRAPPC11 + @@ -235513,6 +268243,7 @@ tetratricopeptide repeat domain-containing protein 15 trafficking protein particle complex, subunit 12 TRAPPC12 + @@ -235567,6 +268298,7 @@ kiaa0517 tripartite motif-containing protein 2 TRIM2 + @@ -235618,6 +268350,7 @@ CCDC8 coiled-coil domain-containing protein 8 CCDC8 + @@ -235663,6 +268396,7 @@ sgk493 vertebrate lonesome kinase PKDCC + @@ -235685,6 +268419,7 @@ RFWD3 ring finger and wd repeat domains-containing protein 3 RFWD3 + @@ -235693,6 +268428,12 @@ + + + + + + @@ -235710,6 +268451,12 @@ + + + + + + @@ -235742,6 +268489,7 @@ nop56 ribonuclear protein nop56, s. cerevisiae, homolog of NOP56 + @@ -235749,6 +268497,12 @@ + + + + + + @@ -235808,6 +268562,7 @@ ZNF644 zinc finger protein 644 ZNF644 + @@ -235815,6 +268570,12 @@ + + + + + + @@ -235847,6 +268608,7 @@ pfm2 pr domain-containing protein 5 PRDM5 + @@ -235868,6 +268630,12 @@ + + + + + + @@ -235924,6 +268692,12 @@ + + + + + + @@ -235957,6 +268731,7 @@ pepck1 phosphoenolpyruvate carboxykinase 1, soluble PCK1 + @@ -235980,6 +268755,7 @@ kiaa0540 neurobeachin-like 2 NBEAL2 + @@ -235989,6 +268765,12 @@ + + + + + + @@ -236006,6 +268788,12 @@ + + + + + + @@ -236039,6 +268827,12 @@ + + + + + + @@ -236081,6 +268875,12 @@ + + + + + + @@ -236113,6 +268913,7 @@ dis3 mitotic control, s. cerevisiae, homolog-like 2 dis3-like 3-prime-5-prime exoribonuclease 2 DIS3L2 + @@ -236158,6 +268959,12 @@ + + + + + + @@ -236257,6 +269064,7 @@ dedicator of cytokinesis 6 kiaa1395 DOCK6 + @@ -236275,6 +269083,12 @@ + + + + + + @@ -236336,6 +269150,12 @@ + + + + + + @@ -236355,6 +269175,12 @@ + + + + + + @@ -236374,6 +269200,12 @@ + + + + + + @@ -236391,6 +269223,12 @@ + + + + + + @@ -236413,6 +269251,12 @@ + + + + + + @@ -236431,6 +269275,12 @@ + + + + + + @@ -236575,6 +269425,7 @@ asc1 complex subunit, 200-kd subunit p200 ASCC3 + @@ -236612,6 +269463,12 @@ + + + + + + @@ -236663,6 +269520,12 @@ + + + + + + @@ -236697,6 +269560,12 @@ + + + + + + @@ -236726,6 +269595,12 @@ + + + + + + @@ -236772,6 +269647,12 @@ + + + + + + @@ -236804,6 +269685,12 @@ + + + + + + @@ -236839,6 +269726,7 @@ hsd11, kidney and placental type hsd11, type 2 HSD11B2 + @@ -236878,6 +269766,7 @@ PDZD8 pdz domain-containing protein 8 PDZD8 + @@ -236936,6 +269825,7 @@ 5-oxoprolinase (atp-hydrolyzing) OPLAH OPLAH + @@ -236964,6 +269854,7 @@ ACSF3 acyl-coa synthetase family, member 3 ACSF3 + @@ -236987,6 +269878,7 @@ n-alpha-acetyltransferase 60, natf catalytic subunit nat15 NAA60 + @@ -236995,6 +269887,12 @@ + + + + + + @@ -237014,6 +269912,12 @@ + + + + + + @@ -237031,6 +269935,12 @@ + + + + + + @@ -237097,6 +270007,12 @@ + + + + + + @@ -237115,6 +270031,12 @@ + + + + + + @@ -237161,6 +270083,30 @@ + + + + + + + + + + + + + + + + CFAP57 + cilia- and flagella-associated protein 57 + wd repeat-containing protein 65 + CFAP57 + + + + + @@ -237179,6 +270125,7 @@ C9ORF72 chromosome 9 open reading frame 72 C9ORF72 + @@ -237186,6 +270133,12 @@ + + + + + + @@ -237212,6 +270165,12 @@ + + + + + + @@ -237228,6 +270187,18 @@ + + + + + + + + + + + + @@ -237268,6 +270239,7 @@ cilia- and flagella-associated protein 65 coiled-coil domain-containing protein 108 CFAP65 + @@ -237275,6 +270247,12 @@ + + + + + + @@ -237292,6 +270270,18 @@ + + + + + + + + + + + + @@ -237348,6 +270338,7 @@ endothelial cell adhesion molecule endothelial cell-selective adhesion molecule ESAM + @@ -237371,6 +270362,7 @@ glucocorticoid-induced transcript 1 thymocyte/spermatocyte selection 1 GLCCI1 + @@ -237389,6 +270381,12 @@ + + + + + + @@ -237424,6 +270422,12 @@ + + + + + + @@ -237440,6 +270444,12 @@ + + + + + + @@ -237457,6 +270467,12 @@ + + + + + + @@ -237506,6 +270522,7 @@ bicc bicc family rna-binding protein 1 BICC1 + @@ -237565,6 +270582,12 @@ + + + + + + @@ -237581,6 +270604,12 @@ + + + + + + @@ -237608,6 +270637,12 @@ + + + + + + @@ -237674,6 +270709,7 @@ ZMYND15 zinc finger mynd-containing protein 15 ZMYND15 + @@ -237778,6 +270814,12 @@ + + + + + + @@ -237832,7 +270874,12 @@ - + + + + + + @@ -237936,6 +270983,7 @@ presequence translocase-associated motor 16 presequence translocase-associated motor 16, s. cerevisiae, homolog of PAM16 + @@ -237955,6 +271003,12 @@ + + + + + + @@ -237988,6 +271042,12 @@ + + + + + + @@ -238159,6 +271219,7 @@ nic96, s. cerevisiae, homolog of nucleoporin, 93-kd NUP93 + @@ -238183,6 +271244,7 @@ kiaa0225 nucleoporin, 205-kd NUP205 + @@ -238231,6 +271293,12 @@ + + + + + + @@ -238265,6 +271333,12 @@ + + + + + + @@ -238358,6 +271432,12 @@ + + + + + + @@ -238482,6 +271562,7 @@ kiaa1951 zinc finger protein 526 ZNF526 + @@ -238528,6 +271609,12 @@ + + + + + + @@ -238571,6 +271658,7 @@ MFSD2A major facilitator superfamily domain-containing protein 2a MFSD2A + @@ -238590,6 +271678,12 @@ + + + + + + @@ -238617,6 +271711,12 @@ + + + + + + @@ -238650,6 +271750,7 @@ rhomboid 5 homolog 2 rhomboid 5, drosophila, homolog of, 2 RHBDF2 + @@ -238678,6 +271779,12 @@ + + + + + + @@ -238694,6 +271801,12 @@ + + + + + + @@ -238741,6 +271854,12 @@ + + + + + + @@ -238780,6 +271899,12 @@ + + + + + + @@ -238796,6 +271921,12 @@ + + + + + + @@ -238855,6 +271986,7 @@ als2 chromosome region gene 4 transmembrane protein 237 TMEM237 + @@ -238863,6 +271995,12 @@ + + + + + + @@ -238895,6 +272033,7 @@ kiaa0406 telo2-interacting protein 1 TTI1 + @@ -238918,6 +272057,7 @@ chromosome 8 open reading frame 41 telo2-interacting protein 2 TTI2 + @@ -238942,6 +272082,7 @@ teashirt zinc finger homeobox 1 tsh1 TSHZ1 + @@ -239027,6 +272168,12 @@ + + + + + + @@ -239046,6 +272193,12 @@ + + + + + + @@ -239090,6 +272243,12 @@ + + + + + + @@ -239122,6 +272281,7 @@ atpase family, aaa domain-containing, member 1 thorase ATAD1 + @@ -239147,6 +272307,7 @@ kiaa10 ubiquitin protein ligase e3c UBE3C + @@ -239190,6 +272351,12 @@ + + + + + + @@ -239229,6 +272396,7 @@ TMEM138 transmembrane protein 138 TMEM138 + @@ -239253,6 +272421,7 @@ m19 ubiquinol-cytochrome c reductase complex assembly factor 2 UQCC2 + @@ -239261,6 +272430,12 @@ + + + + + + @@ -239279,6 +272454,12 @@ + + + + + + @@ -239299,6 +272480,12 @@ + + + + + + @@ -239315,6 +272502,12 @@ + + + + + + @@ -239413,6 +272606,7 @@ adamts-like protein 6 thrombospondin type-1 domain-containing protein 4 THSD4 + @@ -239466,6 +272660,7 @@ cox14, s. cerevisiae, homolog of cytochrome c oxidase assembly factor cox14 COX14 + @@ -239490,6 +272685,7 @@ mitochondrial malonyltransferase mt, mitochondrial MCAT + @@ -239497,6 +272693,12 @@ + + + + + + @@ -239583,6 +272785,12 @@ + + + + + + @@ -239610,6 +272818,12 @@ + + + + + + @@ -239646,6 +272860,12 @@ + + + + + + @@ -239696,6 +272916,12 @@ + + + + + + @@ -239728,6 +272954,12 @@ + + + + + + @@ -239771,6 +273003,7 @@ FKBP14 fk506-binding protein 14 FKBP14 + @@ -239809,6 +273042,12 @@ + + + + + + @@ -239853,6 +273092,7 @@ imfa domain-containing protein myod family inhibitor domain-containing protein MDFIC + @@ -239877,6 +273117,7 @@ lap1b torsin 1a-interacting protein 1 TOR1AIP1 + @@ -239912,6 +273153,7 @@ gpr158-like gpr158l1 GPR179 + @@ -239935,6 +273177,7 @@ gata zinc finger domain-containing protein 1 ocular development-associated gene GATAD1 + @@ -240032,6 +273275,7 @@ nadh-ubiquinone oxidoreductase 1 alpha subcomplex 12 nadh-ubiquinone oxidoreductase subunit a12 NDUFA12 + @@ -240085,6 +273329,7 @@ chromosome 10 open reading frame 11 leucine-rich melanocyte differentiation-associated protein LRMDA + @@ -240136,6 +273381,7 @@ er membrane protein complex, subunit 10 This term has one or more labels that end with ', INCLUDED'. EMC10 + @@ -240173,6 +273419,7 @@ eld/osa1 kiaa1235 ARID1B + @@ -240181,6 +273428,12 @@ + + + + + + @@ -240220,6 +273473,12 @@ + + + + + + @@ -240272,6 +273531,12 @@ + + + + + + @@ -240306,6 +273571,7 @@ dynein, axonemal, assembly factor 3 pf22, chlamydomonas, homolog of DNAAF3 + @@ -240331,6 +273597,7 @@ diaphanous-related formin 3 drf3 DIAPH3 + @@ -240394,6 +273661,7 @@ rogdi atypical leucine zipper rogdi, drosophila, homolog of ROGDI + @@ -240401,6 +273669,12 @@ + + + + + + @@ -240430,6 +273704,12 @@ + + + + + + @@ -240473,6 +273753,7 @@ proline hydroxylase 4 prolyl 4-hydroxylase, transmembrane P4HTM + @@ -240497,6 +273778,7 @@ ferredoxin 1-like protein ferredoxin 2 FDX2 + @@ -240663,6 +273945,7 @@ kiaa1705 phosphatidic acid-preferring phospholipase a1 DDHD1 + @@ -240686,6 +273969,7 @@ focadhesin kiaa1797 FOCAD + @@ -240695,6 +273979,12 @@ + + + + + + @@ -240772,6 +274062,12 @@ + + + + + + @@ -240833,6 +274129,12 @@ + + + + + + @@ -240850,6 +274152,12 @@ + + + + + + @@ -241020,6 +274328,7 @@ kiaa1530 uv-stimulated scaffold protein a UVSSA + @@ -241042,6 +274351,7 @@ MYO1H myosin 1h MYO1H + @@ -241050,6 +274360,12 @@ + + + + + + @@ -241144,6 +274460,7 @@ coenzyme q6, monooxygenase coq6, s. cerevisiae, homolog of COQ6 + @@ -241180,6 +274497,12 @@ + + + + + + @@ -241197,6 +274520,12 @@ + + + + + + @@ -241214,6 +274543,12 @@ + + + + + + @@ -241243,6 +274578,12 @@ + + + + + + @@ -241294,6 +274635,7 @@ pat1a protein associated with topoisomerase ii, s. cerevisiae, homolog of, 2 PATL2 + @@ -241302,6 +274644,12 @@ + + + + + + @@ -241343,6 +274691,7 @@ chromosome 16 open reading frame 25 coiled-coil domain-containing protein 78 CCDC78 + @@ -241366,6 +274715,7 @@ mitochondrial translation optimization 1, s. cerevisiae, homolog of mitochondrial trna translation optimization 1 MTO1 + @@ -241429,6 +274779,12 @@ + + + + + + @@ -241446,6 +274802,12 @@ + + + + + + @@ -241462,6 +274824,12 @@ + + + + + + @@ -241478,6 +274846,12 @@ + + + + + + @@ -241528,6 +274902,7 @@ pr46b, chlamydomonas, homolog of schmalhans, zebrafish, homolog of CCDC103 + @@ -241536,6 +274911,12 @@ + + + + + + @@ -241553,6 +274934,12 @@ + + + + + + @@ -241570,6 +274957,12 @@ + + + + + + @@ -241601,6 +274994,7 @@ PHYKPL alanine-glyoxylate aminotransferase 2-like 2 PHYKPL + @@ -241702,6 +275096,7 @@ cytochrome c oxidase assembly factor cox20 family with sequence similarity 36, member a COX20 + @@ -241721,6 +275116,12 @@ + + + + + + @@ -241749,6 +275150,12 @@ + + + + + + @@ -241778,6 +275185,12 @@ + + + + + + @@ -241810,6 +275223,7 @@ SCUBE3 signal peptide-, cub domain-, and egf-like domains-containing protein 3 SCUBE3 + @@ -241818,6 +275232,12 @@ + + + + + + @@ -241851,6 +275271,7 @@ kinetochore-localized astrin/spag5-binding protein small kinetochore-associated protein KNSTRN + @@ -241874,6 +275295,7 @@ cyclin-dependent kinase 19 kiaa1028 CDK19 + @@ -241881,6 +275303,12 @@ + + + + + + @@ -241916,6 +275344,7 @@ CEP63 centrosomal protein, 63-kd CEP63 + @@ -241938,6 +275367,7 @@ SERAC1 serine active site-containing protein 1 SERAC1 + @@ -241961,6 +275391,7 @@ ft27 transmembrane protein 165 TMEM165 + @@ -241969,6 +275400,12 @@ + + + + + + @@ -241987,6 +275424,12 @@ + + + + + + @@ -242018,6 +275461,7 @@ PIGO phosphatidylinositol glycan anchor biosynthesis class o protein PIGO + @@ -242047,6 +275491,12 @@ + + + + + + @@ -242080,6 +275530,7 @@ mitochondrial pyruvate carrier 1 pyruvate carrier, mitochondrial, 1 MPC1 + @@ -242088,6 +275539,12 @@ + + + + + + @@ -242116,6 +275573,12 @@ + + + + + + @@ -242155,6 +275618,12 @@ + + + + + + @@ -242216,6 +275685,12 @@ + + + + + + @@ -242234,6 +275709,12 @@ + + + + + + @@ -242301,6 +275782,12 @@ + + + + + + @@ -242335,6 +275822,7 @@ fragilis 4, mouse, homolog of interferon-induced transmembrane protein 5 IFITM5 + @@ -242358,6 +275846,7 @@ cilia- and flagella-associated protein 53 coiled-coil domain-containing protein 11 CFAP53 + @@ -242382,6 +275871,7 @@ pet100 cytochrome c oxidase chaperone pet100, s. cerevisiae, homolog of PET100 + @@ -242405,6 +275895,7 @@ pet117 cytochrome c oxidase chaperone pet117, s. cerevisiae, homolog of PET117 + @@ -242428,6 +275919,7 @@ chromosome 1 open reading frame 31 cytochrome c oxidase assembly factor 6 COA6 + @@ -242452,6 +275944,7 @@ cytochrome c oxidase assembly factor 3 mitochondrial translation regulation assembly intermediate of cytochrome c oxidase 12 COA3 + @@ -242476,6 +275969,7 @@ salt-inducible kinase 3 sik family kinase 3 SIK3 + @@ -242484,6 +275978,12 @@ + + + + + + @@ -242515,6 +276015,7 @@ SNX10 sorting nexin 10 SNX10 + @@ -242551,6 +276052,7 @@ poc1 centriolar protein, chlamydomonas, homolog of, a proteome of centriole 1a POC1A + @@ -242576,6 +276078,7 @@ poc1 centriolar protein, chlamydomonas, homolog of, B proteome of the centriole 1b POC1B + @@ -242599,6 +276102,7 @@ chromosome 2 open reading frame 33 mitochondrial fission factor MFF + @@ -242622,6 +276126,7 @@ kiaa0461 pogo transposable element-derived protein with znf domain POGZ + @@ -242646,6 +276151,7 @@ egf domain-specific o-linked n-acetylglucosamine transferase eogt1 EOGT + @@ -242665,6 +276171,12 @@ + + + + + + @@ -242682,6 +276194,12 @@ + + + + + + @@ -242698,6 +276216,12 @@ + + + + + + @@ -242726,6 +276250,12 @@ + + + + + + @@ -242744,6 +276274,12 @@ + + + + + + @@ -242772,6 +276308,12 @@ + + + + + + @@ -242789,6 +276331,12 @@ + + + + + + @@ -242828,6 +276376,12 @@ + + + + + + @@ -242873,6 +276427,7 @@ REPS1 ralbp1-associated eps domain-containing protein 1 REPS1 + @@ -242944,6 +276499,7 @@ chromosome 4 open reading frame 26 odontogenesis-associated phosphoprotein ODAPH + @@ -242975,6 +276531,12 @@ + + + + + + @@ -242991,6 +276553,12 @@ + + + + + + @@ -243054,6 +276622,12 @@ + + + + + + @@ -243071,6 +276645,12 @@ + + + + + + @@ -243088,6 +276668,12 @@ + + + + + + @@ -243105,6 +276691,12 @@ + + + + + + @@ -243124,6 +276716,12 @@ + + + + + + @@ -243155,6 +276753,12 @@ + + + + + + @@ -243214,6 +276818,7 @@ centrosomal protein, 164-kd kiaa1052 CEP164 + @@ -243222,6 +276827,12 @@ + + + + + + @@ -243240,6 +276851,12 @@ + + + + + + @@ -243258,6 +276875,12 @@ + + + + + + @@ -243286,6 +276909,12 @@ + + + + + + @@ -243304,6 +276933,12 @@ + + + + + + @@ -243428,6 +277063,7 @@ dynein axonemal assembly factor 5 heat repeat-containing protein 2 DNAAF5 + @@ -243469,6 +277105,12 @@ + + + + + + @@ -243564,6 +277206,12 @@ + + + + + + @@ -243653,6 +277301,12 @@ + + + + + + @@ -243670,6 +277324,12 @@ + + + + + + @@ -243746,6 +277406,7 @@ von willebrand factor a domain-containing protein 3b vwa domain-containing protein 3b VWA3B + @@ -243765,6 +277426,12 @@ + + + + + + @@ -243794,6 +277461,12 @@ + + + + + + @@ -243835,6 +277508,7 @@ alpha- and gamma-adaptin-binding protein p34 AAGAB + @@ -243843,6 +277517,12 @@ + + + + + + @@ -243862,6 +277542,12 @@ + + + + + + @@ -243880,6 +277566,12 @@ + + + + + + @@ -243955,6 +277647,12 @@ + + + + + + @@ -243972,6 +277670,12 @@ + + + + + + @@ -243989,6 +277693,12 @@ + + + + + + @@ -244006,6 +277716,12 @@ + + + + + + @@ -244039,6 +277755,7 @@ bckdh kinase branched-chain alpha-keto acid dehydrogenase kinase BCKDK + @@ -244062,6 +277779,7 @@ chromosome 11 open reading frame 73 heat shock protein nuclear import factor hikeshi HIKESHI + @@ -244107,6 +277825,7 @@ required for meiotic nuclear division 1 homolog required for meiotic nuclear division 1, s. cerevisiae, homolog of RMND1 + @@ -244129,6 +277848,7 @@ PTCD3 pentatricopeptide repeat domain-containing protein 3 PTCD3 + @@ -244137,6 +277857,12 @@ + + + + + + @@ -244155,6 +277881,12 @@ + + + + + + @@ -244177,6 +277909,12 @@ + + + + + + @@ -244194,6 +277932,12 @@ + + + + + + @@ -244212,6 +277956,12 @@ + + + + + + @@ -244245,6 +277995,7 @@ chromosome 12 open reading frame 64 otogelin-like protein OTOGL + @@ -244253,6 +278004,12 @@ + + + + + + @@ -244330,6 +278087,7 @@ leucine-rich repeat-containing protein 6 leucine-rich testis protein LRRC6 + @@ -244338,6 +278096,12 @@ + + + + + + @@ -244377,6 +278141,12 @@ + + + + + + @@ -244411,6 +278181,12 @@ + + + + + + @@ -244454,6 +278230,12 @@ + + + + + + @@ -244471,6 +278253,12 @@ + + + + + + @@ -244527,6 +278315,7 @@ tam41 mitochondrial translocator assembly and maintenance homolog translocator assembly and maintenance, mitochondrial, s. cerevisiae, homolog of TAMM41 + @@ -244579,6 +278368,7 @@ symportin synchronized import protein 1 HEATR3 + @@ -244618,6 +278408,7 @@ SLFN14 schlafen family, member 14 SLFN14 + @@ -244638,6 +278429,12 @@ + + + + + + @@ -244654,6 +278451,12 @@ + + + + + + @@ -244671,6 +278474,12 @@ + + + + + + @@ -244689,6 +278498,12 @@ + + + + + + @@ -244739,6 +278554,12 @@ + + + + + + @@ -244756,6 +278577,12 @@ + + + + + + @@ -244772,6 +278599,12 @@ + + + + + + @@ -244789,6 +278622,12 @@ + + + + + + @@ -244880,6 +278719,7 @@ eps8-like protein 2 eps8-related protein 2 EPS8L2 + @@ -244903,6 +278743,7 @@ eps8-like protein 3 eps8-related protein 3 EPS8L3 + @@ -244946,6 +278787,7 @@ p66-beta p68 GATAD2B + @@ -244969,6 +278811,7 @@ kiaa0329 tectonin beta-propeller repeat-containing protein 2 TECPR2 + @@ -244992,6 +278835,7 @@ ddhd domain-containing protein 2 kiaa0725 DDHD2 + @@ -245015,6 +278859,7 @@ figler4 leucine-rich repeat, immunoglobulin-like, and transmembrane domains-containing protein 3 LRIT3 + @@ -245073,6 +278918,12 @@ + + + + + + @@ -245101,6 +278952,12 @@ + + + + + + @@ -245132,6 +278989,7 @@ OR2J3 olfactory receptor, family 2, subfamily j, member 3 OR2J3 + @@ -245181,6 +279039,12 @@ + + + + + + @@ -245198,6 +279062,12 @@ + + + + + + @@ -245227,6 +279097,12 @@ + + + + + + @@ -245245,6 +279121,12 @@ + + + + + + @@ -245262,6 +279144,12 @@ + + + + + + @@ -245279,6 +279167,12 @@ + + + + + + @@ -245297,6 +279191,12 @@ + + + + + + @@ -245315,6 +279215,12 @@ + + + + + + @@ -245332,6 +279238,12 @@ + + + + + + @@ -245375,6 +279287,7 @@ coiled-coil domain-containing protein 114: ccdc114 outer dynein arm docking complex subunit 1 ODAD1 + @@ -245383,6 +279296,12 @@ + + + + + + @@ -245400,6 +279319,12 @@ + + + + + + @@ -245418,6 +279343,12 @@ + + + + + + @@ -245462,6 +279393,7 @@ kiaa1636 tetratricopeptide repeat-, ankyrin repeat-, and coiled-coil-containing protein 2 TANC2 + @@ -245495,6 +279427,7 @@ kiaa1844 ww domain-containing adaptor with coiled-coil region WAC + @@ -245517,6 +279450,7 @@ ASB10 ankyrin repeat- and socs box-containing protein 10 ASB10 + @@ -245534,6 +279468,12 @@ + + + + + + @@ -245551,6 +279491,12 @@ + + + + + + @@ -245568,6 +279514,12 @@ + + + + + + @@ -245585,6 +279537,12 @@ + + + + + + @@ -245603,6 +279561,12 @@ + + + + + + @@ -245638,6 +279602,7 @@ heew1 kiaa1632 EPG5 + @@ -245645,6 +279610,12 @@ + + + + + + @@ -245673,6 +279644,12 @@ + + + + + + @@ -245690,6 +279667,12 @@ + + + + + + @@ -245734,6 +279717,7 @@ chromosome 20 open reading frame 72 mitochondrial genome maintenance exonuclease 1 MGME1 + @@ -245759,6 +279743,12 @@ + + + + + + @@ -245775,6 +279765,12 @@ + + + + + + @@ -245802,6 +279798,12 @@ + + + + + + @@ -245819,6 +279821,12 @@ + + + + + + @@ -245845,6 +279853,12 @@ + + + + + + @@ -245862,6 +279876,12 @@ + + + + + + @@ -245879,6 +279899,12 @@ + + + + + + @@ -245911,6 +279937,7 @@ tubulin, beta, class 2a tubulin, beta-2a TUBB2A + @@ -245943,6 +279970,7 @@ tubulin, beta, class 5 tubulin, beta-6 TUBB6 + @@ -245960,6 +279988,12 @@ + + + + + + @@ -245999,6 +280033,12 @@ + + + + + + @@ -246016,6 +280056,12 @@ + + + + + + @@ -246049,6 +280095,7 @@ asxl transcriptional regulator 3 kiaa1713 ASXL3 + @@ -246066,6 +280113,12 @@ + + + + + + @@ -246084,6 +280137,12 @@ + + + + + + @@ -246113,6 +280172,12 @@ + + + + + + @@ -246131,6 +280196,12 @@ + + + + + + @@ -246160,6 +280231,12 @@ + + + + + + @@ -246202,6 +280279,7 @@ c10 chromosome 12 open reading frame 57 C12ORF57 + @@ -246243,6 +280321,12 @@ + + + + + + @@ -246273,6 +280357,12 @@ + + + + + + @@ -246290,6 +280380,12 @@ + + + + + + @@ -246307,6 +280403,12 @@ + + + + + + @@ -246324,6 +280426,12 @@ + + + + + + @@ -246411,6 +280519,7 @@ family with sequence similarity 57, member B tlc domain-containing protein 3b TLCD3B + @@ -246419,6 +280528,12 @@ + + + + + + @@ -246436,6 +280551,12 @@ + + + + + + @@ -246475,6 +280596,12 @@ + + + + + + @@ -246508,6 +280635,7 @@ fgf receptor-activating protein 1 post-gpi attachment to proteins 2 PGAP2 + @@ -246516,6 +280644,12 @@ + + + + + + @@ -246546,6 +280680,12 @@ + + + + + + @@ -246579,6 +280719,12 @@ + + + + + + @@ -246613,6 +280759,12 @@ + + + + + + @@ -246646,6 +280798,7 @@ diabetes-associated protein 1n insulin-sensitive tissues upregulated during skeletal muscle growth 5, mouse, homolog of ATP5MD + @@ -246667,6 +280820,12 @@ + + + + + + @@ -246712,6 +280871,7 @@ potassium channel, subfamily u, member 1 slowpoke, drosophila, homolog of, 3 KCNU1 + @@ -246719,6 +280879,12 @@ + + + + + + @@ -246736,6 +280902,12 @@ + + + + + + @@ -246777,6 +280949,12 @@ + + + + + + @@ -246794,6 +280972,12 @@ + + + + + + @@ -246822,6 +281006,12 @@ + + + + + + @@ -246862,6 +281052,12 @@ + + + + + + @@ -246879,6 +281075,12 @@ + + + + + + @@ -246896,6 +281098,12 @@ + + + + + + @@ -246921,6 +281129,12 @@ + + + + + + @@ -246938,6 +281152,12 @@ + + + + + + @@ -246970,6 +281190,7 @@ SMIM1 small integral membrane protein 1 SMIM1 + @@ -246978,6 +281199,12 @@ + + + + + + @@ -247068,6 +281295,7 @@ chromosome 17 open reading frame 95 methyltransferase-like 23 METTL23 + @@ -247075,6 +281303,12 @@ + + + + + + @@ -247094,6 +281328,12 @@ + + + + + + @@ -247111,6 +281351,12 @@ + + + + + + @@ -247128,6 +281374,12 @@ + + + + + + @@ -247147,6 +281399,12 @@ + + + + + + @@ -247164,6 +281422,12 @@ + + + + + + @@ -247181,6 +281445,12 @@ + + + + + + @@ -247209,6 +281479,12 @@ + + + + + + @@ -247228,6 +281504,12 @@ + + + + + + @@ -247260,6 +281542,7 @@ ceramide synthase 3 lag1, s. cerevisiae, homolog of, 3 CERS3 + @@ -247268,6 +281551,12 @@ + + + + + + @@ -247307,6 +281596,12 @@ + + + + + + @@ -247323,6 +281618,12 @@ + + + + + + @@ -247341,6 +281642,12 @@ + + + + + + @@ -247374,6 +281681,7 @@ exocyst complex, 84-kd subunit sec84, s. cerevisiae, homolog of EXOC8 + @@ -247382,6 +281690,12 @@ + + + + + + @@ -247399,6 +281713,12 @@ + + + + + + @@ -247416,6 +281736,12 @@ + + + + + + @@ -247434,6 +281760,12 @@ + + + + + + @@ -247583,6 +281915,12 @@ + + + + + + @@ -247637,6 +281975,7 @@ adenosine deaminase, trna-specific, 3 tad3, s. cerevisiae, homolog of ADAT3 + @@ -247729,6 +282068,7 @@ iron-sulfur cluster assembly 2 iron-sulfur cluster assembly 2, s. cerevisiae, homolog of ISCA2 + @@ -247788,6 +282128,7 @@ leucine-rich repeat-containing protein 33 negative regulator of reactive oxygen species NRROS + @@ -247805,6 +282146,12 @@ + + + + + + @@ -247848,6 +282195,7 @@ sec5 sec5-like 1 EXOC2 + @@ -247882,6 +282230,7 @@ interferon regulatory factor 2-binding protein 2 irf2-binding protein 2 IRF2BP2 + @@ -247917,6 +282266,7 @@ kelch-like 40: klhl40 sarcosynapsin kelch-like 40: klhl40 + @@ -247925,6 +282275,12 @@ + + + + + + @@ -247953,6 +282309,12 @@ + + + + + + @@ -247985,6 +282347,7 @@ myomaker transmembrane protein 8c MYMK + @@ -247993,6 +282356,12 @@ + + + + + + @@ -248010,6 +282379,12 @@ + + + + + + @@ -248093,6 +282468,7 @@ ligand-dependent nuclear receptor-interacting factor 1 receptor-interacting factor 1 LRIF1 + @@ -248101,6 +282477,12 @@ + + + + + + @@ -248118,6 +282500,12 @@ + + + + + + @@ -248150,6 +282538,7 @@ AK9 adenylate kinase 9 AK9 + @@ -248180,6 +282569,12 @@ + + + + + + @@ -248229,6 +282624,7 @@ AK7 adenylate kinase 7 AK7 + @@ -248249,6 +282645,12 @@ + + + + + + @@ -248283,6 +282685,7 @@ pkdr1 samcystin ANKS6 + @@ -248315,6 +282718,12 @@ + + + + + + @@ -248355,6 +282764,12 @@ + + + + + + @@ -248382,6 +282797,12 @@ + + + + + + @@ -248414,6 +282835,7 @@ kiaa0146 scaffolding protein involved 1n DNA repair SPIDR + @@ -248434,6 +282856,12 @@ + + + + + + @@ -248470,6 +282898,12 @@ + + + + + + @@ -248536,6 +282970,12 @@ + + + + + + @@ -248555,6 +282995,12 @@ + + + + + + @@ -248598,6 +283044,7 @@ functional spliceosome-associated protein, 35-kd tho complex, subunit 6 THOC6 + @@ -248621,6 +283068,7 @@ transmembrane 4 l6 family, member 20 transmembrane 4 superfamily, member 20 TM4SF20 + @@ -248645,6 +283093,7 @@ arl2-binding protein binder of arl2 ARL2BP + @@ -248668,6 +283117,7 @@ armadillo repeat-containing protein 4 outer dynein arm docking complex subunit 2 ODAD2 + @@ -248692,6 +283142,7 @@ mc2r accessory protein 2 melanocortin 2 receptor accessory protein 2 MRAP2 + @@ -248700,6 +283151,12 @@ + + + + + + @@ -248717,6 +283174,12 @@ + + + + + + @@ -248734,6 +283197,12 @@ + + + + + + @@ -248751,6 +283220,12 @@ + + + + + + @@ -248832,6 +283307,12 @@ + + + + + + @@ -248863,6 +283344,7 @@ CCDC111 coiled-coil domain-containing 111 CCDC111 + @@ -248900,6 +283382,7 @@ trna methyltransferase 10, s. cerevisiae, homolog of, c trna methyltransferase 10c, mitochondrial rnase p subunit TRMT10C + @@ -248982,6 +283465,12 @@ + + + + + + @@ -248999,6 +283488,12 @@ + + + + + + @@ -249031,6 +283526,12 @@ + + + + + + @@ -249048,6 +283549,12 @@ + + + + + + @@ -249065,6 +283572,12 @@ + + + + + + @@ -249104,6 +283617,12 @@ + + + + + + @@ -249123,6 +283642,12 @@ + + + + + + @@ -249141,6 +283666,12 @@ + + + + + + @@ -249159,6 +283690,12 @@ + + + + + + @@ -249175,6 +283712,12 @@ + + + + + + @@ -249192,6 +283735,12 @@ + + + + + + @@ -249223,6 +283772,7 @@ WDR60 wd repeat-containing protein 60 WDR60 + @@ -249247,6 +283797,7 @@ seizure threshold 2, mouse, homolog of szt2 subunit of kicstor complex SZT2 + @@ -249270,6 +283821,7 @@ dead-box helicase 59 dead-box polypeptide 59 DDX59 + @@ -249289,6 +283841,12 @@ + + + + + + @@ -249306,6 +283864,12 @@ + + + + + + @@ -249352,6 +283916,12 @@ + + + + + + @@ -249370,6 +283940,12 @@ + + + + + + @@ -249410,6 +283986,12 @@ + + + + + + @@ -249452,6 +284034,12 @@ + + + + + + @@ -249483,6 +284071,12 @@ + + + + + + @@ -249516,6 +284110,7 @@ chromosome 21 open reading frame 59 cilia- and flagella-associated protein 298 CFAP298 + @@ -249540,6 +284135,7 @@ gdp-mannose pyrophosphorylase, alpha subunit gmpp-alpha GMPPA + @@ -249563,6 +284159,7 @@ atp/gtp-binding protein-like 1 cytosolic carboxypeptidase 4 AGBL1 + @@ -249587,6 +284184,7 @@ mitochondrial elongation factor 1 smcr7-like protein MIEF1 + @@ -249611,6 +284209,7 @@ mitochondrial elongation factor 2 smith-magenis syndrome chromosome region, candidate gene 7 MIEF2 + @@ -249619,6 +284218,12 @@ + + + + + + @@ -249637,6 +284242,12 @@ + + + + + + @@ -249655,6 +284266,12 @@ + + + + + + @@ -249673,6 +284290,12 @@ + + + + + + @@ -249691,6 +284314,12 @@ + + + + + + @@ -249709,6 +284338,12 @@ + + + + + + @@ -249727,6 +284362,12 @@ + + + + + + @@ -249755,6 +284396,12 @@ + + + + + + @@ -249772,6 +284419,12 @@ + + + + + + @@ -249791,6 +284444,12 @@ + + + + + + @@ -249821,6 +284480,12 @@ + + + + + + @@ -249888,6 +284553,7 @@ STAC3 sh3 and cysteine-rich domains 3 STAC3 + @@ -249907,6 +284573,12 @@ + + + + + + @@ -249924,6 +284596,12 @@ + + + + + + @@ -250005,6 +284683,7 @@ chromosome 6 open reading frame 70 endoplasmic reticulum membrane-associated RNA degradation protein ERMARD + @@ -250027,6 +284706,7 @@ TMEM126B transmembrane protein 126b TMEM126B + @@ -250051,6 +284731,7 @@ timm domain containing-protein 1 translocase of inner mitochondrial membrane domain-containing protein 1 TIMMDC1 + @@ -250076,6 +284757,7 @@ nuclear envelope spectrin repeat protein 4 spectrin repeat-containing nuclear envelope protein 4 SYNE4 + @@ -250119,6 +284801,12 @@ + + + + + + @@ -250136,6 +284824,12 @@ + + + + + + @@ -250153,6 +284847,12 @@ + + + + + + @@ -250181,6 +284881,12 @@ + + + + + + @@ -250197,6 +284903,12 @@ + + + + + + @@ -250224,6 +284936,12 @@ + + + + + + @@ -250271,6 +284989,7 @@ ARMC5 armadillo repeat-containing protein 5 ARMC5 + @@ -250279,6 +284998,12 @@ + + + + + + @@ -250296,6 +285021,12 @@ + + + + + + @@ -250323,6 +285054,12 @@ + + + + + + @@ -250386,6 +285123,12 @@ + + + + + + @@ -250404,6 +285147,12 @@ + + + + + + @@ -250446,6 +285195,7 @@ SFXN4 sideroflexin 4 SFXN4 + @@ -250454,6 +285204,12 @@ + + + + + + @@ -250486,6 +285242,7 @@ aarf domain-containing kinase 4 coenzyme q8b COQ8B + @@ -250494,6 +285251,12 @@ + + + + + + @@ -250510,6 +285273,12 @@ + + + + + + @@ -250528,6 +285297,12 @@ + + + + + + @@ -250549,6 +285324,12 @@ + + + + + + @@ -250568,6 +285349,12 @@ + + + + + + @@ -250596,6 +285383,12 @@ + + + + + + @@ -250628,6 +285421,7 @@ FAM111B family with sequence similarity 111, member B FAM111B + @@ -250650,6 +285444,7 @@ SLC38A8 solute carrier family 38 (amino acid transporter), member 8 SLC38A8 + @@ -250673,6 +285468,7 @@ centrosomal protein, 19-kd chromosome 3 open reading frame 34 CEP19 + @@ -250696,6 +285492,7 @@ kiaa1069 nucleoporin, 188-kd NUP188 + @@ -250754,6 +285551,12 @@ + + + + + + @@ -250772,6 +285575,12 @@ + + + + + + @@ -250800,6 +285609,12 @@ + + + + + + @@ -250817,6 +285632,12 @@ + + + + + + @@ -250834,6 +285655,12 @@ + + + + + + @@ -250852,6 +285679,12 @@ + + + + + + @@ -250879,6 +285712,12 @@ + + + + + + @@ -250896,6 +285735,12 @@ + + + + + + @@ -250930,6 +285775,7 @@ caseinolytic mitochondrial matrix peptidase chaperone subunit clpx, e. coli, homolog of CLPX + @@ -250971,6 +285817,12 @@ + + + + + + @@ -250990,6 +285842,12 @@ + + + + + + @@ -250998,10 +285856,10 @@ IMD19 cd3-delta deficiency - immunodeficiency 19 + immunodeficiency 19, severe combined scid, t cell-negative, B cell-positive, nk cell-positive severe combined immunodeficiency, t cell-negative, B cell-positive, nk cell-positive - immunodeficiency 19 + immunodeficiency 19, severe combined @@ -251067,6 +285925,7 @@ actin-associated protein 2e4 kaptin KPTN + @@ -251092,6 +285951,7 @@ respiratory chain assembly protein 1 sel1 repeat-containing protein 1 COA7 + @@ -251126,6 +285986,7 @@ cdan1-interacting nuclease 1 chromosome 15 open reading frame 41 CDIN1 + @@ -251134,6 +285995,12 @@ + + + + + + @@ -251162,6 +286029,12 @@ + + + + + + @@ -251180,6 +286053,12 @@ + + + + + + @@ -251198,6 +286077,12 @@ + + + + + + @@ -251215,6 +286100,12 @@ + + + + + + @@ -251232,6 +286123,12 @@ + + + + + + @@ -251266,6 +286163,7 @@ kiaa0159 non-smc condensin 1 complex subunit d2 NCAPD2 + @@ -251355,6 +286253,12 @@ + + + + + + @@ -251372,6 +286276,12 @@ + + + + + + @@ -251407,6 +286317,7 @@ rad26-like This term has one or more labels that end with ', INCLUDED'. ERCC6L2 + @@ -251441,6 +286352,12 @@ + + + + + + @@ -251475,6 +286392,12 @@ + + + + + + @@ -251492,6 +286415,12 @@ + + + + + + @@ -251526,6 +286455,7 @@ hfm1, atp-dependent DNA helicase, s. cerevisiae, homolog of mer3, s. cerevisiae, homolog of HFM1 + @@ -251534,6 +286464,12 @@ + + + + + + @@ -251617,6 +286553,7 @@ huk4 phospholipase d family, member 3 PLD3 + @@ -251624,6 +286561,12 @@ + + + + + + @@ -251640,6 +286583,12 @@ + + + + + + @@ -251658,6 +286607,12 @@ + + + + + + @@ -251687,6 +286642,12 @@ + + + + + + @@ -251713,6 +286674,12 @@ + + + + + + @@ -251772,6 +286739,12 @@ + + + + + + @@ -251789,6 +286762,12 @@ + + + + + + @@ -251823,6 +286802,7 @@ kiaa1613 solute carrier family 7, member 14 SLC7A14 + @@ -251831,6 +286811,12 @@ + + + + + + @@ -251847,6 +286833,12 @@ + + + + + + @@ -251875,6 +286867,12 @@ + + + + + + @@ -251892,6 +286890,12 @@ + + + + + + @@ -251909,6 +286913,12 @@ + + + + + + @@ -251926,6 +286936,12 @@ + + + + + + @@ -251958,6 +286974,7 @@ dedicator of cytokinesis 7 kiaa1771 DOCK7 + @@ -251966,6 +286983,12 @@ + + + + + + @@ -251982,6 +287005,12 @@ + + + + + + @@ -252015,6 +287044,7 @@ vacuolar protein sorting 51, s. cerevisiae, homolog of vps51 subunit of garp complex VPS51 + @@ -252038,6 +287068,7 @@ kiaa1757 set domain-containing protein 5 SETD5 + @@ -252087,6 +287118,7 @@ wash complex, subunit 4 wash complex, subunit 7 WASHC4 + @@ -252104,6 +287136,12 @@ + + + + + + @@ -252120,6 +287158,12 @@ + + + + + + @@ -252173,6 +287217,7 @@ kizuna kizuna centrosomal protein KIZ + @@ -252181,6 +287226,12 @@ + + + + + + @@ -252226,6 +287277,12 @@ + + + + + + @@ -252243,6 +287300,12 @@ + + + + + + @@ -252275,6 +287338,7 @@ GRXCR2 glutaredoxin, cysteine-rich, 2 GRXCR2 + @@ -252283,6 +287347,12 @@ + + + + + + @@ -252300,6 +287370,12 @@ + + + + + + @@ -252329,6 +287405,12 @@ + + + + + + @@ -252357,6 +287439,12 @@ + + + + + + @@ -252398,6 +287486,12 @@ + + + + + + @@ -252430,6 +287524,7 @@ adaptor protein complex 1, sigma-1c subunit adaptor-related protein complex 1, sigma-3 subunit AP1S3 + @@ -252438,6 +287533,12 @@ + + + + + + @@ -252470,6 +287571,7 @@ chromosome 5 open reading frame 33 nad kinase 2, mitochondrial NADK2 + @@ -252478,6 +287580,12 @@ + + + + + + @@ -252510,6 +287618,7 @@ AHDC1 at-hook dna-binding motif-containing protein 1 AHDC1 + @@ -252535,6 +287644,7 @@ nudix hydrolase 15 nudix motif 15 NUDT15 + @@ -252557,6 +287667,7 @@ FSIP2 fibrous sheath-interacting protein 2 FSIP2 + @@ -252579,6 +287690,7 @@ CLDN9 claudin 9 CLDN9 + @@ -252594,6 +287706,12 @@ + + + + + + @@ -252613,6 +287731,12 @@ + + + + + + @@ -252652,6 +287776,12 @@ + + + + + + @@ -252670,6 +287800,12 @@ + + + + + + @@ -252689,6 +287825,12 @@ + + + + + + @@ -252722,6 +287864,7 @@ ddb1- and cul4-associated factor 8 wd repeat-containing protein 42a DCAF8 + @@ -252740,6 +287883,12 @@ + + + + + + @@ -252769,6 +287918,12 @@ + + + + + + @@ -252823,6 +287978,7 @@ lyr motif-containing protein 7 mzm1-like LYRM7 + @@ -252831,6 +287987,12 @@ + + + + + + @@ -252849,6 +288011,12 @@ + + + + + + @@ -252876,6 +288044,12 @@ + + + + + + @@ -252893,6 +288067,12 @@ + + + + + + @@ -252910,6 +288090,12 @@ + + + + + + @@ -252927,6 +288113,12 @@ + + + + + + @@ -252961,6 +288153,7 @@ fatty acid desaturase 7 membrane lipid desaturase DEGS1 + @@ -252985,6 +288178,7 @@ dihydroxyacetone kinase 2, s. cerevisiae, homolog of triokinase and fmn cyclase TKFC + @@ -253020,6 +288214,7 @@ coiled-coil domain-containing protein 41 renal carcinoma antigen ny-ren-58 CEP83 + @@ -253069,6 +288264,7 @@ vacuolar protein sorting 53, s. cerevisiae, homolog of vps53 subunit of garp complex VPS53 + @@ -253077,6 +288273,12 @@ + + + + + + @@ -253094,6 +288296,12 @@ + + + + + + @@ -253112,6 +288320,12 @@ + + + + + + @@ -253129,6 +288343,12 @@ + + + + + + @@ -253146,6 +288366,12 @@ + + + + + + @@ -253163,6 +288389,12 @@ + + + + + + @@ -253180,6 +288412,12 @@ + + + + + + @@ -253216,6 +288454,7 @@ intraflagellar transport 27, chlamydomonas, homolog of rab-like protein 4 IFT27 + @@ -253236,6 +288475,12 @@ + + + + + + @@ -253253,6 +288498,12 @@ + + + + + + @@ -253288,6 +288539,7 @@ radial spoke protein 3 radial spokehead-like 2 RSPH3 + @@ -253296,6 +288548,12 @@ + + + + + + @@ -253335,6 +288593,12 @@ + + + + + + @@ -253363,6 +288627,12 @@ + + + + + + @@ -253391,6 +288661,12 @@ + + + + + + @@ -253449,6 +288725,7 @@ ZNF407 zinc finger protein 407 ZNF407 + @@ -253457,6 +288734,12 @@ + + + + + + @@ -253475,6 +288758,12 @@ + + + + + + @@ -253493,6 +288782,12 @@ + + + + + + @@ -253525,6 +288820,7 @@ aatp/gtp-binding protein-like 5 cytosolic carboxypeptidase 5 AGBL5 + @@ -253596,6 +288892,12 @@ + + + + + + @@ -253614,6 +288916,12 @@ + + + + + + @@ -253632,6 +288940,12 @@ + + + + + + @@ -253665,6 +288979,7 @@ carbohydrate kinase domain-containing protein nad(p)hx dehydratase NAXD + @@ -253696,6 +289011,12 @@ + + + + + + @@ -253713,6 +289034,12 @@ + + + + + + @@ -253730,6 +289057,12 @@ + + + + + + @@ -253747,6 +289080,12 @@ + + + + + + @@ -253783,6 +289122,12 @@ + + + + + + @@ -253799,6 +289144,12 @@ + + + + + + @@ -253832,6 +289183,7 @@ ankyrin repeat domain-containing protein 17 gtar ANKRD17 + @@ -253839,6 +289191,12 @@ + + + + + + @@ -253869,6 +289227,12 @@ + + + + + + @@ -253886,6 +289250,12 @@ + + + + + + @@ -253903,6 +289273,12 @@ + + + + + + @@ -253935,6 +289311,7 @@ C2CD3 c2 calcium-dependent domain-containing protein 3 C2CD3 + @@ -253943,6 +289320,12 @@ + + + + + + @@ -253960,6 +289343,12 @@ + + + + + + @@ -253976,6 +289365,12 @@ + + + + + + @@ -253992,6 +289387,12 @@ + + + + + + @@ -254023,6 +289424,7 @@ TMEM98 transmembrane protein 98 TMEM98 + @@ -254052,6 +289454,7 @@ speg complex locus This term has one or more labels that end with ', INCLUDED'. SPEG + @@ -254099,6 +289502,12 @@ + + + + + + @@ -254114,6 +289523,12 @@ + + + + + + @@ -254147,6 +289562,7 @@ coiled-coil domain-containing protein 151 outer dynein arm docking complex subunit 3 ODAD3 + @@ -254155,6 +289571,12 @@ + + + + + + @@ -254172,6 +289594,12 @@ + + + + + + @@ -254188,6 +289616,12 @@ + + + + + + @@ -254204,6 +289638,12 @@ + + + + + + @@ -254220,6 +289660,12 @@ + + + + + + @@ -254253,6 +289699,12 @@ + + + + + + @@ -254300,6 +289752,12 @@ + + + + + + @@ -254318,6 +289776,12 @@ + + + + + + @@ -254335,6 +289799,12 @@ + + + + + + @@ -254365,6 +289835,12 @@ + + + + + + @@ -254382,6 +289858,12 @@ + + + + + + @@ -254411,6 +289893,12 @@ + + + + + + @@ -254428,6 +289916,12 @@ + + + + + + @@ -254445,6 +289939,12 @@ + + + + + + @@ -254473,6 +289973,12 @@ + + + + + + @@ -254490,6 +289996,12 @@ + + + + + + @@ -254518,6 +290030,12 @@ + + + + + + @@ -254579,6 +290097,12 @@ + + + + + + @@ -254596,6 +290120,12 @@ + + + + + + @@ -254613,6 +290143,12 @@ + + + + + + @@ -254654,6 +290190,12 @@ + + + + + + @@ -254698,6 +290240,7 @@ apoptogenic protein apoptogenic protein 1, mitochondrial APOPT1 + @@ -254738,6 +290281,12 @@ + + + + + + @@ -254770,6 +290319,7 @@ jagunal homolog 1 jagunal, drosophila, homolog of, 1 JAGN1 + @@ -254794,6 +290344,7 @@ trna methyltransferase 10, s. cerevisiae, homolog of, a trna methyltransferase 10a TRMT10A + @@ -254812,6 +290363,12 @@ + + + + + + @@ -254846,6 +290403,7 @@ sr-related c-terminal domain-associated factor 4 sr-related ctd-associated factor 4 SCAF4 + @@ -254854,6 +290412,12 @@ + + + + + + @@ -254898,6 +290462,7 @@ ANLN actin-binding protein anillin ANLN + @@ -254927,6 +290492,12 @@ + + + + + + @@ -254944,6 +290515,12 @@ + + + + + + @@ -254962,6 +290539,12 @@ + + + + + + @@ -254979,6 +290562,12 @@ + + + + + + @@ -254996,6 +290585,12 @@ + + + + + + @@ -255025,6 +290620,12 @@ + + + + + + @@ -255053,6 +290654,12 @@ + + + + + + @@ -255102,6 +290709,12 @@ + + + + + + @@ -255159,6 +290772,7 @@ elongator acetyltransferase complex, subunit 2 stat-interacting protein 1 ELP2 + @@ -255184,6 +290798,12 @@ + + + + + + @@ -255202,6 +290822,12 @@ + + + + + + @@ -255218,6 +290844,12 @@ + + + + + + @@ -255252,6 +290884,7 @@ kiaa0692 lem domain-containing protein 4 ANKLE2 + @@ -255260,6 +290893,12 @@ + + + + + + @@ -255288,10 +290927,10 @@ - - NISBD2 - inflammatory skin and bowel disease, neonatal, 2 - inflammatory skin and bowel disease, neonatal, 2 + NNCIS + inflammatory skin and bowel disease, neonatal, 2, formerly + neonatal nephrocutaneous inflammatory syndrome + neonatal nephrocutaneous inflammatory syndrome @@ -255322,6 +290961,12 @@ + + + + + + @@ -255339,6 +290984,12 @@ + + + + + + @@ -255379,6 +291030,12 @@ + + + + + + @@ -255425,6 +291082,7 @@ sprt-like domain at n terminus sprt-like n-terminal domain protein SPRTN + @@ -255432,6 +291090,12 @@ + + + + + + @@ -255460,6 +291124,12 @@ + + + + + + @@ -255514,6 +291184,7 @@ chromosome 11 open reading frame 83 ubiquinol-cytochrome c reductase complex assembly factor 3 UQCC3 + @@ -255570,6 +291241,7 @@ chromosome 1 open reading frame 70 transmembrane protein 240 TMEM240 + @@ -255592,6 +291264,7 @@ SNX14 sorting nexin 14 SNX14 + @@ -255600,6 +291273,12 @@ + + + + + + @@ -255645,6 +291324,12 @@ + + + + + + @@ -255690,6 +291375,12 @@ + + + + + + @@ -255721,6 +291412,7 @@ LMOD3 leiomodin 3 LMOD3 + @@ -255750,6 +291442,12 @@ + + + + + + @@ -255767,6 +291465,12 @@ + + + + + + @@ -255810,6 +291514,7 @@ cwf19-like cell cycle control factor 1 cwf19-like protein 1 CWF19L1 + @@ -255829,6 +291534,12 @@ + + + + + + @@ -255848,6 +291559,12 @@ + + + + + + @@ -255879,6 +291596,7 @@ RNF220 ring finger protein 220 RNF220 + @@ -255910,6 +291628,12 @@ + + + + + + @@ -255942,6 +291666,7 @@ hspc264 wd repeat-containing protein 73 WDR73 + @@ -255949,6 +291674,12 @@ + + + + + + @@ -255987,6 +291718,7 @@ short-chain dehydrogenase/reductase family 2e, member 1 tdp-glucose 4,6-dehydratase TGDS + @@ -256010,6 +291742,7 @@ pyrimidine nucleotide carrier 2 solute carrier family 25 (mitochondrial carrier, pyrimidine nucleotide transporter), member 36 SLC25A36 + @@ -256062,6 +291795,12 @@ + + + + + + @@ -256080,6 +291819,12 @@ + + + + + + @@ -256097,6 +291842,12 @@ + + + + + + @@ -256125,6 +291876,12 @@ + + + + + + @@ -256142,6 +291899,12 @@ + + + + + + @@ -256176,6 +291939,7 @@ nuclear speckle splicing regulatory protein 1 nuclear speckle-related protein, 70-kd NSRP1 + @@ -256199,6 +291963,7 @@ cytoskeleton-associated protein 2-like radial fiber and mitotic spindle protein CKAP2L + @@ -256207,6 +291972,12 @@ + + + + + + @@ -256241,6 +292012,7 @@ ddrgk domain-containing protein 1 ufm1-binding protein containing a pci domain 1 DDRGK1 + @@ -256263,6 +292035,7 @@ TMEM132E transmembrane protein 132e TMEM132E + @@ -256316,6 +292089,12 @@ + + + + + + @@ -256368,6 +292147,12 @@ + + + + + + @@ -256384,6 +292169,12 @@ + + + + + + @@ -256400,6 +292191,12 @@ + + + + + + @@ -256417,6 +292214,12 @@ + + + + + + @@ -256435,6 +292238,12 @@ + + + + + + @@ -256462,6 +292271,12 @@ + + + + + + @@ -256478,6 +292293,12 @@ + + + + + + @@ -256494,6 +292315,12 @@ + + + + + + @@ -256512,6 +292339,12 @@ + + + + + + @@ -256529,6 +292362,12 @@ + + + + + + @@ -256568,6 +292407,12 @@ + + + + + + @@ -256602,6 +292447,7 @@ zinc finger protein 292 zn16 ZNF292 + @@ -256634,6 +292480,7 @@ camp response element-binding protein 3-like 1 old astrocyte specifically induced substance CREB3L1 + @@ -256666,6 +292513,12 @@ + + + + + + @@ -256695,6 +292548,12 @@ + + + + + + @@ -256728,6 +292587,12 @@ + + + + + + @@ -256771,6 +292636,12 @@ + + + + + + @@ -256791,6 +292662,12 @@ + + + + + + @@ -256807,6 +292684,12 @@ + + + + + + @@ -256858,6 +292741,7 @@ CHCHD2 coiled-coil-helix-coiled-coil-helix domain-containing protein 2 CHCHD2 + @@ -256877,6 +292761,12 @@ + + + + + + @@ -256894,6 +292784,12 @@ + + + + + + @@ -256926,6 +292822,7 @@ genetic-screened homeobox 2 gs homeobox 2 GSX2 + @@ -256990,6 +292887,12 @@ + + + + + + @@ -257023,6 +292926,7 @@ kiaa1897 pseudouridylate synthase 7, putative PUS7 + @@ -257031,6 +292935,12 @@ + + + + + + @@ -257085,6 +292995,12 @@ + + + + + + @@ -257104,6 +293020,12 @@ + + + + + + @@ -257121,6 +293043,12 @@ + + + + + + @@ -257162,6 +293090,12 @@ + + + + + + @@ -257179,6 +293113,12 @@ + + + + + + @@ -257219,6 +293159,12 @@ + + + + + + @@ -257237,6 +293183,12 @@ + + + + + + @@ -257268,6 +293220,7 @@ PUS3 pseudouridylate synthase 3 PUS3 + @@ -257292,6 +293245,7 @@ filaggrin family member 2 ifapsoriasin FLG2 + @@ -257311,6 +293265,12 @@ + + + + + + @@ -257339,6 +293299,12 @@ + + + + + + @@ -257357,6 +293323,12 @@ + + + + + + @@ -257373,6 +293345,12 @@ + + + + + + @@ -257406,6 +293384,12 @@ + + + + + + @@ -257460,6 +293444,7 @@ ferm domain-containing protein 4a kiaa1294 FRMD4A + @@ -257493,6 +293478,7 @@ FRMD5 ferm domain-containing protein 5 FRMD5 + @@ -257651,6 +293637,7 @@ kiaa1802 zinc finger protein 828 CHAMP1 + @@ -257670,6 +293657,12 @@ + + + + + + @@ -257688,6 +293681,12 @@ + + + + + + @@ -257705,6 +293704,12 @@ + + + + + + @@ -257734,6 +293739,12 @@ + + + + + + @@ -257751,6 +293762,12 @@ + + + + + + @@ -257769,6 +293786,12 @@ + + + + + + @@ -257786,6 +293809,12 @@ + + + + + + @@ -257816,6 +293845,12 @@ + + + + + + @@ -257848,6 +293883,7 @@ ACBD6 acyl-coa-binding domain-containing protein 6 ACBD6 + @@ -257867,6 +293903,12 @@ + + + + + + @@ -257884,6 +293926,12 @@ + + + + + + @@ -257903,6 +293951,12 @@ + + + + + + @@ -257935,6 +293989,7 @@ coenzyme q5, methyltransferase coq5, s. cerevisiae, homolog of COQ5 + @@ -257960,6 +294015,12 @@ + + + + + + @@ -257979,6 +294040,12 @@ + + + + + + @@ -258014,6 +294081,7 @@ scy1, s. cerevisiae, homolog of, 2 scy1-like protein 2 SCYL2 + @@ -258022,6 +294090,12 @@ + + + + + + @@ -258049,6 +294123,12 @@ + + + + + + @@ -258076,6 +294156,12 @@ + + + + + + @@ -258129,6 +294215,7 @@ ZCCHC8 zinc finger cchc domain-containing protein 8 ZCCHC8 + @@ -258151,6 +294238,7 @@ KCTD17 potassium channel tetramerization domain-containing protein 17 KCTD17 + @@ -258217,6 +294305,12 @@ + + + + + + @@ -258235,6 +294329,12 @@ + + + + + + @@ -258273,6 +294373,12 @@ + + + + + + @@ -258333,6 +294439,7 @@ PYCR2 pyrroline-5-carboxylate reductase 2 PYCR2 + @@ -258363,6 +294470,12 @@ + + + + + + @@ -258391,6 +294504,12 @@ + + + + + + @@ -258407,6 +294526,12 @@ + + + + + + @@ -258424,6 +294549,12 @@ + + + + + + @@ -258459,6 +294590,7 @@ latrophilin 1 lectomedin 2 ADGRL1 + @@ -258480,6 +294612,12 @@ + + + + + + @@ -258496,6 +294634,12 @@ + + + + + + @@ -258528,6 +294672,7 @@ chromosome 17 open reading frame 42 transcription elongation factor, mitochondrial TEFM + @@ -258554,6 +294699,7 @@ kiaa0890 retina corepressor DHX30 + @@ -258618,6 +294764,7 @@ rho guanine nucleotide exchange factor 18 rho-specific guanine nucleotide exchange factor, 114-kd ARHGEF18 + @@ -258626,6 +294773,12 @@ + + + + + + @@ -258643,6 +294796,12 @@ + + + + + + @@ -258742,6 +294901,7 @@ ovo-like 2 zinc finger protein 339 OVOL2 + @@ -258750,6 +294910,12 @@ + + + + + + @@ -258766,6 +294932,12 @@ + + + + + + @@ -258843,6 +295015,12 @@ + + + + + + @@ -258877,6 +295055,7 @@ positive regulatory domain zinc finger protein 12 pr domain-containing protein 12 PRDM12 + @@ -258884,6 +295063,12 @@ + + + + + + @@ -258901,6 +295086,12 @@ + + + + + + @@ -258919,6 +295110,12 @@ + + + + + + @@ -258963,6 +295160,7 @@ syndetin vps50, earp/garpii complex subunit VPS50 + @@ -259034,6 +295232,7 @@ nice4 ubiquitin-associated protein 2-like UBAP2L + @@ -259042,6 +295241,12 @@ + + + + + + @@ -259060,6 +295265,12 @@ + + + + + + @@ -259100,6 +295311,12 @@ + + + + + + @@ -259131,6 +295348,12 @@ + + + + + + @@ -259149,6 +295372,12 @@ + + + + + + @@ -259203,6 +295432,12 @@ + + + + + + @@ -259221,6 +295456,12 @@ + + + + + + @@ -259239,6 +295480,12 @@ + + + + + + @@ -259257,6 +295504,12 @@ + + + + + + @@ -259303,6 +295556,7 @@ neuron-derived neurotrophic factor nord, drosophila, homolog of NDNF + @@ -259311,6 +295565,12 @@ + + + + + + @@ -259345,6 +295605,12 @@ + + + + + + @@ -259361,6 +295627,7 @@ glucosamine-6-phosphate n-acetyltransferase 1 glucosamine-phosphate n-acetyltransferase 1 GNPNAT1 + @@ -259368,6 +295635,12 @@ + + + + + + @@ -259406,6 +295679,12 @@ + + + + + + @@ -259423,6 +295702,12 @@ + + + + + + @@ -259456,6 +295741,12 @@ + + + + + + @@ -259508,6 +295799,12 @@ + + + + + + @@ -259536,6 +295833,12 @@ + + + + + + @@ -259575,6 +295878,12 @@ + + + + + + @@ -259620,6 +295929,7 @@ pf6, chlamydomonas, homolog of sperm-associated antigen 17 SPAG17 + @@ -259628,6 +295938,12 @@ + + + + + + @@ -259667,6 +295983,12 @@ + + + + + + @@ -259704,6 +296026,12 @@ + + + + + + @@ -259738,6 +296066,12 @@ + + + + + + @@ -259756,6 +296090,12 @@ + + + + + + @@ -259802,6 +296142,7 @@ kiaa1972 ring finger- and spry domain-containing protein 1 RSPRY1 + @@ -259821,6 +296162,12 @@ + + + + + + @@ -259916,6 +296263,7 @@ CSGALNACT1 chondroitin sulfate n-acetylgalactosaminyltransferase 1 CSGALNACT1 + @@ -259951,6 +296299,7 @@ acyl-coa-binding domain-containing protein 5 kiaa1996 ACBD5 + @@ -259959,6 +296308,12 @@ + + + + + + @@ -259989,6 +296344,12 @@ + + + + + + @@ -260006,6 +296367,12 @@ + + + + + + @@ -260048,6 +296415,7 @@ kiaa1205 proline-rich protein 12 PRR12 + @@ -260094,6 +296462,7 @@ PRDM8 pr domain-containing protein 8 PRDM8 + @@ -260102,6 +296471,12 @@ + + + + + + @@ -260150,6 +296525,7 @@ keratin 25, inner root sheath, 1 keratin 25, type 1 KRT25 + @@ -260213,6 +296589,7 @@ katanin-interacting protein kiaa0556 KATNIP + @@ -260276,6 +296653,7 @@ spal3 spar3 SIPA1L3 + @@ -260283,6 +296661,12 @@ + + + + + + @@ -260318,6 +296702,7 @@ mitochondrial contact site and cristae organizing system, 13-kd subunit qil1 MICOS13 + @@ -260373,6 +296758,7 @@ tan1, yeast, homolog of thump domain-containing protein 1 THUMPD1 + @@ -260396,6 +296782,7 @@ small nucleolar rna, c/d box, 118 snorna, u8 SNORD118 + @@ -260428,6 +296815,12 @@ + + + + + + @@ -260445,6 +296838,12 @@ + + + + + + @@ -260462,6 +296861,12 @@ + + + + + + @@ -260549,6 +296954,12 @@ + + + + + + @@ -260622,6 +297033,12 @@ + + + + + + @@ -260638,6 +297055,12 @@ + + + + + + @@ -260658,6 +297081,12 @@ + + + + + + @@ -260690,6 +297119,7 @@ gestational trophoblastic tumor protein 1 start domain-containing protein 7 STARD7 + @@ -260712,6 +297142,7 @@ TMX2 thioredoxin-related transmembrane protein 2 TMX2 + @@ -260731,6 +297162,12 @@ + + + + + + @@ -260750,6 +297187,12 @@ + + + + + + @@ -260767,6 +297210,12 @@ + + + + + + @@ -260784,6 +297233,12 @@ + + + + + + @@ -260801,6 +297256,12 @@ + + + + + + @@ -260830,6 +297291,12 @@ + + + + + + @@ -260847,6 +297314,12 @@ + + + + + + @@ -260875,6 +297348,12 @@ + + + + + + @@ -260904,6 +297383,12 @@ + + + + + + @@ -260935,6 +297420,7 @@ coiled-coil domain-containing protein 174: ccdc174 hematopoietic stem/progenitor cell-expressed gene 212 coiled-coil domain-containing protein 174: ccdc174 + @@ -260943,6 +297429,12 @@ + + + + + + @@ -260959,6 +297451,12 @@ + + + + + + @@ -260977,6 +297475,12 @@ + + + + + + @@ -261006,6 +297510,12 @@ + + + + + + @@ -261052,6 +297562,12 @@ + + + + + + @@ -261070,6 +297586,12 @@ + + + + + + @@ -261086,6 +297608,12 @@ + + + + + + @@ -261105,6 +297633,12 @@ + + + + + + @@ -261137,6 +297671,7 @@ chromosome 1 open reading frame 172 keratinocyte differentiation factor 1 KDF1 + @@ -261144,6 +297679,12 @@ + + + + + + @@ -261161,6 +297702,12 @@ + + + + + + @@ -261193,6 +297740,7 @@ tubulin, beta, class 8 tubulin, beta-8 TUBB8 + @@ -261201,6 +297749,12 @@ + + + + + + @@ -261229,6 +297783,12 @@ + + + + + + @@ -261258,6 +297818,12 @@ + + + + + + @@ -261290,6 +297856,7 @@ jnk-binding protein 1 mitogen-activated protein kinase-binding protein 1 MAPKBP1 + @@ -261298,6 +297865,12 @@ + + + + + + @@ -261314,6 +297887,12 @@ + + + + + + @@ -261349,6 +297928,12 @@ + + + + + + @@ -261393,6 +297978,7 @@ sycp2-like synaptonemal complex protein 2-like SYCP2L + @@ -261401,6 +297987,12 @@ + + + + + + @@ -261417,6 +298009,12 @@ + + + + + + @@ -261445,6 +298043,12 @@ + + + + + + @@ -261464,6 +298068,12 @@ + + + + + + @@ -261481,6 +298091,12 @@ + + + + + + @@ -261500,6 +298116,12 @@ + + + + + + @@ -261536,6 +298158,7 @@ vma12, s. cerevisiae, homolog of vph2, s. cerevisiae, homolog of TMEM199 + @@ -261543,6 +298166,12 @@ + + + + + + @@ -261560,6 +298189,12 @@ + + + + + + @@ -261577,6 +298212,12 @@ + + + + + + @@ -261593,6 +298234,12 @@ + + + + + + @@ -261640,6 +298287,12 @@ + + + + + + @@ -261658,6 +298311,12 @@ + + + + + + @@ -261676,6 +298335,12 @@ + + + + + + @@ -261710,6 +298375,7 @@ transport and golgi organization 2 homolog transport and golgi organization 2, drosophila, homolog of TANGO2 + @@ -261728,6 +298394,12 @@ + + + + + + @@ -261744,6 +298416,12 @@ + + + + + + @@ -261762,6 +298440,12 @@ + + + + + + @@ -261778,6 +298462,12 @@ + + + + + + @@ -261795,6 +298485,12 @@ + + + + + + @@ -261869,6 +298565,7 @@ er membrane protein complex, subunit 1 kiaa0090 EMC1 + @@ -261887,6 +298584,12 @@ + + + + + + @@ -261956,6 +298659,12 @@ + + + + + + @@ -261999,6 +298708,12 @@ + + + + + + @@ -262016,6 +298731,12 @@ + + + + + + @@ -262033,6 +298754,12 @@ + + + + + + @@ -262049,6 +298776,12 @@ + + + + + + @@ -262065,6 +298798,12 @@ + + + + + + @@ -262082,6 +298821,12 @@ + + + + + + @@ -262099,6 +298844,12 @@ + + + + + + @@ -262138,6 +298889,12 @@ + + + + + + @@ -262155,6 +298912,12 @@ + + + + + + @@ -262172,6 +298935,12 @@ + + + + + + @@ -262206,6 +298975,12 @@ + + + + + + @@ -262252,6 +299027,7 @@ TBCK tbc1 domain-containing kinase TBCK + @@ -262260,6 +299036,12 @@ + + + + + + @@ -262277,6 +299059,12 @@ + + + + + + @@ -262317,6 +299105,12 @@ + + + + + + @@ -262335,6 +299129,12 @@ + + + + + + @@ -262352,6 +299152,12 @@ + + + + + + @@ -262369,6 +299175,12 @@ + + + + + + @@ -262386,6 +299198,12 @@ + + + + + + @@ -262535,6 +299353,12 @@ + + + + + + @@ -262565,6 +299389,12 @@ + + + + + + @@ -262616,6 +299446,12 @@ + + + + + + @@ -262633,6 +299469,12 @@ + + + + + + @@ -262678,6 +299520,7 @@ metastasis suppressor 1-like protein mtss i-bar domain-containing protein 2 MTSS2 + @@ -262685,6 +299528,12 @@ + + + + + + @@ -262741,6 +299590,12 @@ + + + + + + @@ -262758,6 +299613,12 @@ + + + + + + @@ -262786,6 +299647,12 @@ + + + + + + @@ -262802,6 +299669,12 @@ + + + + + + @@ -262819,6 +299692,12 @@ + + + + + + @@ -262836,6 +299715,12 @@ + + + + + + @@ -262869,6 +299754,7 @@ pr domain-containing protein 1n smooth muscle pr domain-containing protein 6 PRDM6 + @@ -262877,6 +299763,12 @@ + + + + + + @@ -262894,6 +299786,12 @@ + + + + + + @@ -262922,6 +299820,12 @@ + + + + + + @@ -262938,6 +299842,12 @@ + + + + + + @@ -263001,6 +299911,12 @@ + + + + + + @@ -263041,6 +299957,12 @@ + + + + + + @@ -263079,6 +300001,12 @@ + + + + + + @@ -263109,6 +300037,12 @@ + + + + + + @@ -263127,6 +300061,12 @@ + + + + + + @@ -263171,6 +300111,7 @@ alkaline phytoceramidase phytoceramidase, alkaline ACER3 + @@ -263179,6 +300120,12 @@ + + + + + + @@ -263206,6 +300153,12 @@ + + + + + + @@ -263268,6 +300221,7 @@ dnaj homology subfamily a, member 5 dnaj/hsp40 homolog, subfamily c, member 21 DNAJC21 + @@ -263276,6 +300230,12 @@ + + + + + + @@ -263293,6 +300253,12 @@ + + + + + + @@ -263309,6 +300275,12 @@ + + + + + + @@ -263327,6 +300299,12 @@ + + + + + + @@ -263355,6 +300333,12 @@ + + + + + + @@ -263414,6 +300398,7 @@ ncs2, s. cerevisiae, homolog of upf0432 CTU2 + @@ -263433,6 +300418,12 @@ + + + + + + @@ -263450,6 +300441,12 @@ + + + + + + @@ -263484,6 +300481,7 @@ guf1 gtpase, s. cerevisiae, homolog of guf1 homolog, gtpase GUF1 + @@ -263492,6 +300490,12 @@ + + + + + + @@ -263555,6 +300559,12 @@ + + + + + + @@ -263583,6 +300593,12 @@ + + + + + + @@ -263639,6 +300655,7 @@ dynein, cytoplasmic 2, light intermediate chain 1 light intermediate chain 3 DYNC2LI1 + @@ -263647,6 +300664,12 @@ + + + + + + @@ -263675,6 +300698,12 @@ + + + + + + @@ -263707,6 +300736,7 @@ chromosome 3 open reading frame 17 nucleolus and neural progenitor protein NEPRO + @@ -263715,6 +300745,12 @@ + + + + + + @@ -263732,6 +300768,12 @@ + + + + + + @@ -263750,6 +300792,12 @@ + + + + + + @@ -263767,6 +300815,12 @@ + + + + + + @@ -263799,6 +300853,7 @@ intraflagellar transport 52 intraflagellar transport 52, chlamydomonas, homolog of IFT52 + @@ -263822,6 +300877,7 @@ outer dynein arm docking complex subunit 4 tetratricopeptide repeat domain-containing protein 25 ODAD4 + @@ -263852,6 +300908,12 @@ + + + + + + @@ -263870,6 +300932,12 @@ + + + + + + @@ -263901,6 +300969,7 @@ ZNF668 zinc finger protein 668 ZNF668 + @@ -263909,6 +300978,12 @@ + + + + + + @@ -263938,6 +301013,12 @@ + + + + + + @@ -263954,6 +301035,12 @@ + + + + + + @@ -263985,6 +301072,7 @@ CEP78 centrosomal protein, 78-kd CEP78 + @@ -263993,6 +301081,12 @@ + + + + + + @@ -264059,6 +301153,12 @@ + + + + + + @@ -264076,6 +301176,12 @@ + + + + + + @@ -264093,6 +301199,12 @@ + + + + + + @@ -264110,6 +301222,12 @@ + + + + + + @@ -264172,6 +301290,12 @@ + + + + + + @@ -264189,6 +301313,12 @@ + + + + + + @@ -264234,6 +301364,7 @@ chromosome 15 open reading frame 43 telomere repeat-binding bouquet formation protein 2 TERB2 + @@ -264275,6 +301406,12 @@ + + + + + + @@ -264294,6 +301431,12 @@ + + + + + + @@ -264311,6 +301454,12 @@ + + + + + + @@ -264359,6 +301508,12 @@ + + + + + + @@ -264377,6 +301532,12 @@ + + + + + + @@ -264400,6 +301561,12 @@ + + + + + + @@ -264427,6 +301594,12 @@ + + + + + + @@ -264445,6 +301618,12 @@ + + + + + + @@ -264462,6 +301641,12 @@ + + + + + + @@ -264480,6 +301665,12 @@ + + + + + + @@ -264498,6 +301689,12 @@ + + + + + + @@ -264545,6 +301742,7 @@ ny-co-10 serologically defined colon cancer antigen 10: sdccag10 CWC27 + @@ -264585,6 +301783,12 @@ + + + + + + @@ -264644,6 +301848,12 @@ + + + + + + @@ -264662,6 +301872,12 @@ + + + + + + @@ -264680,6 +301896,12 @@ + + + + + + @@ -264696,6 +301918,12 @@ + + + + + + @@ -264712,6 +301940,12 @@ + + + + + + @@ -264729,6 +301963,12 @@ + + + + + + @@ -264761,6 +302001,7 @@ nol1/nop2/sun domain family, member 6 nop2/sun RNA methyltransferase family, member 6 NSUN6 + @@ -264769,6 +302010,12 @@ + + + + + + @@ -264786,6 +302033,12 @@ + + + + + + @@ -264830,6 +302083,7 @@ glutamyl-trna amidotransferase, subunit a glutamyl-trna-gln amidotransferase, subunit a, mitochondrial QRSL1 + @@ -264853,6 +302107,7 @@ glutamyl-trna amidotransferase, subunit c glutamyl-trna-gln amidotransferase, subunit c, mitochondrial GATC + @@ -264860,6 +302115,12 @@ + + + + + + @@ -264877,6 +302138,12 @@ + + + + + + @@ -264895,6 +302162,12 @@ + + + + + + @@ -264927,6 +302200,7 @@ smile transmembrane and tetratricopeptide repeat domains-containing protein 3 TMTC3 + @@ -264965,6 +302239,7 @@ pndr domain-containing protein 1 pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1 PYROXD1 + @@ -264987,6 +302262,7 @@ HKDC1 hexokinase domain-containing protein 1 HKDC1 + @@ -265026,6 +302302,12 @@ + + + + + + @@ -265055,6 +302337,12 @@ + + + + + + @@ -265083,6 +302371,12 @@ + + + + + + @@ -265103,10 +302397,10 @@ IMD49 - immunodeficiency 49 + immunodeficiency 49, severe combined scid, t cell-negative, B cell-positive, nk cell-positive, with intellectual disability, spasticity, and craniofacial abnormalities severe combined immunodeficiency, t cell-negative, B cell-positive, nk cell-positive, with intellectual disability, spasticity, and craniofacial abnormalities - immunodeficiency 49 + immunodeficiency 49, severe combined @@ -265115,6 +302409,12 @@ + + + + + + @@ -265132,6 +302432,12 @@ + + + + + + @@ -265148,6 +302454,12 @@ + + + + + + @@ -265183,6 +302495,7 @@ ter-like protein trans-2,3-enoyl-coa reductase-like protein TECRL + @@ -265191,6 +302504,12 @@ + + + + + + @@ -265235,6 +302554,7 @@ kiaa1301 nedd4-like e3 ubiquitin-protein ligase 2 HECW2 + @@ -265261,6 +302581,7 @@ nse2 (mms21) homolog, smc5-smc6 complex sumo ligase smc5/smc6 complex sumo ligase nsmce2 NSMCE2 + @@ -265290,6 +302611,12 @@ + + + + + + @@ -265306,6 +302633,12 @@ + + + + + + @@ -265323,6 +302656,12 @@ + + + + + + @@ -265340,6 +302679,12 @@ + + + + + + @@ -265357,6 +302702,12 @@ + + + + + + @@ -265373,6 +302724,12 @@ + + + + + + @@ -265404,6 +302761,7 @@ KIAA0825 kiaa0825 gene KIAA0825 + @@ -265411,6 +302769,12 @@ + + + + + + @@ -265428,6 +302792,12 @@ + + + + + + @@ -265446,6 +302816,12 @@ + + + + + + @@ -265489,6 +302865,7 @@ fam92a1 family with sequence similarity 92, member a CIBAR1 + @@ -265497,6 +302874,12 @@ + + + + + + @@ -265514,6 +302897,12 @@ + + + + + + @@ -265548,6 +302937,7 @@ dynein heavy chain domain 1 flj00251 DNHD1 + @@ -265572,6 +302962,7 @@ kiaa1091 rab6-interacting protein 1 DENND5A + @@ -265580,6 +302971,12 @@ + + + + + + @@ -265597,6 +302994,12 @@ + + + + + + @@ -265639,6 +303042,12 @@ + + + + + + @@ -265680,6 +303089,12 @@ + + + + + + @@ -265709,6 +303124,12 @@ + + + + + + @@ -265725,6 +303146,12 @@ + + + + + + @@ -265741,6 +303168,12 @@ + + + + + + @@ -265758,6 +303191,12 @@ + + + + + + @@ -265814,6 +303253,12 @@ + + + + + + @@ -265842,6 +303287,12 @@ + + + + + + @@ -265859,6 +303310,12 @@ + + + + + + @@ -265886,6 +303343,12 @@ + + + + + + @@ -265903,6 +303366,12 @@ + + + + + + @@ -265935,6 +303404,7 @@ coiled-coil domain-containing protein 79 telomere repeat-binding bouquet formation protein 1 TERB1 + @@ -265942,6 +303412,12 @@ + + + + + + @@ -265971,6 +303447,12 @@ + + + + + + @@ -265988,6 +303470,12 @@ + + + + + + @@ -266006,6 +303494,12 @@ + + + + + + @@ -266038,6 +303532,7 @@ chromosome 2 open reading frame 79 peptidyl-trna hydrolase domain-containing 1 PTRHD1 + @@ -266143,6 +303638,7 @@ dynein, light chain, tctex-type, 2b tctex1 domain-containing protein 2 DYNLT2B + @@ -266150,6 +303646,12 @@ + + + + + + @@ -266197,6 +303699,12 @@ + + + + + + @@ -266240,6 +303748,7 @@ kiaa1803 zinc finger protein 462 ZNF462 + @@ -266266,6 +303775,7 @@ myosin light chain, phosphorylatable, fast skeletal muscle myosin regulatory light chain 2, skeletal muscle isoform MYL11 + @@ -266284,6 +303794,12 @@ + + + + + + @@ -266326,6 +303842,7 @@ QRICH1 glutamine-rich protein 1 QRICH1 + @@ -266356,6 +303873,12 @@ + + + + + + @@ -266374,6 +303897,12 @@ + + + + + + @@ -266390,6 +303919,12 @@ + + + + + + @@ -266417,6 +303952,12 @@ + + + + + + @@ -266435,6 +303976,12 @@ + + + + + + @@ -266452,6 +303999,12 @@ + + + + + + @@ -266469,6 +304022,12 @@ + + + + + + @@ -266496,6 +304055,12 @@ + + + + + + @@ -266513,6 +304078,12 @@ + + + + + + @@ -266541,6 +304112,12 @@ + + + + + + @@ -266558,6 +304135,12 @@ + + + + + + @@ -266574,6 +304157,12 @@ + + + + + + @@ -266608,6 +304197,7 @@ prune exopolyphosphatase 1 prune, drosophila, homolog of PRUNE1 + @@ -266631,6 +304221,7 @@ RPL3L ribosomal protein l3-like RPL3L + @@ -266655,6 +304246,7 @@ glucose-induced degradation-deficient protein 7, s. cerevisiae, homolog of wd repeat-containing protein 26 WDR26 + @@ -266662,6 +304254,12 @@ + + + + + + @@ -266694,6 +304292,7 @@ kiaa1350 ubiquitin-specific peptidase 53 USP53 + @@ -266702,6 +304301,12 @@ + + + + + + @@ -266720,6 +304325,12 @@ + + + + + + @@ -266763,6 +304374,7 @@ gon7 subunit of keops complex gon7, s. cerevisiae, homolog of GON7 + @@ -266783,6 +304395,12 @@ + + + + + + @@ -266811,6 +304429,12 @@ + + + + + + @@ -266845,6 +304469,7 @@ ubiquitin-specific protease 31, formerly ubiquitin-specific protease 48 USP48 + @@ -266868,6 +304493,7 @@ chromosome 14 open reading frame 101 transmembrane protein 260 TMEM260 + @@ -266886,6 +304512,12 @@ + + + + + + @@ -266943,6 +304575,7 @@ dna-directed RNA polymerase iii, subunit f polymerase iii, rna, subunit f POLR3F + @@ -266968,6 +304601,7 @@ polymerase iii, rna, subunit g-like rpc32-beta POLR3GL + @@ -266987,6 +304621,12 @@ + + + + + + @@ -267004,6 +304644,12 @@ + + + + + + @@ -267022,6 +304668,12 @@ + + + + + + @@ -267038,6 +304690,12 @@ + + + + + + @@ -267065,6 +304723,12 @@ + + + + + + @@ -267098,6 +304762,7 @@ blue cheese, drosophila, homolog of wd repeat- and fyve domain-containing protein 3 WDFY3 + @@ -267121,6 +304786,7 @@ nol1/nop2/sun domain family, member 3 nop2/sun RNA methyltransferase family, member 3 NSUN3 + @@ -267140,6 +304806,12 @@ + + + + + + @@ -267156,6 +304828,12 @@ + + + + + + @@ -267189,6 +304867,7 @@ kiaa0564 von willebrand factor a domain-containing protein 8 VWA8 + @@ -267212,6 +304891,7 @@ kiaa1290 oxoglutarate dehydrogenase-like protein OGDHL + @@ -267220,6 +304900,12 @@ + + + + + + @@ -267236,6 +304922,12 @@ + + + + + + @@ -267252,6 +304944,12 @@ + + + + + + @@ -267270,6 +304968,12 @@ + + + + + + @@ -267286,6 +304990,12 @@ + + + + + + @@ -267303,6 +305013,12 @@ + + + + + + @@ -267331,6 +305047,12 @@ + + + + + + @@ -267347,6 +305069,12 @@ + + + + + + @@ -267380,6 +305108,7 @@ glycosyltransferase 25 family, member 1 hydroxylysine galactosyltransferase 1 COLGALT1 + @@ -267387,6 +305116,12 @@ + + + + + + @@ -267403,6 +305138,12 @@ + + + + + + @@ -267437,6 +305178,7 @@ fam42a ribosome assembly 1 homolog EFL1 + @@ -267460,6 +305202,7 @@ chloride channel clic-like 1 mid1-related chloride channel 1 CLCC1 + @@ -267500,6 +305243,12 @@ + + + + + + @@ -267562,6 +305311,7 @@ cilia- and flagella-associated protein 44 wd repeat-containing protein 52 CFAP44 + @@ -267570,6 +305320,12 @@ + + + + + + @@ -267586,6 +305342,12 @@ + + + + + + @@ -267630,6 +305392,12 @@ + + + + + + @@ -267647,6 +305415,12 @@ + + + + + + @@ -267681,6 +305455,7 @@ kinesin-like protein 2 ny-br-62 KIF15 + @@ -267705,6 +305480,7 @@ daz-interacting zinc finger protein 2 dzip1-like DZIP1L + @@ -267713,6 +305489,12 @@ + + + + + + @@ -267741,6 +305523,12 @@ + + + + + + @@ -267758,6 +305546,12 @@ + + + + + + @@ -267817,6 +305611,7 @@ clostridium perfringens enterotoxin receptor-like 3 oligodendrocyte-specific protein-like CLDN10 + @@ -267825,6 +305620,12 @@ + + + + + + @@ -267842,6 +305643,12 @@ + + + + + + @@ -267859,6 +305666,12 @@ + + + + + + @@ -267889,6 +305702,12 @@ + + + + + + @@ -267905,6 +305724,12 @@ + + + + + + @@ -267921,6 +305746,12 @@ + + + + + + @@ -267952,6 +305783,12 @@ + + + + + + @@ -267971,6 +305808,12 @@ + + + + + + @@ -267989,6 +305832,12 @@ + + + + + + @@ -268038,6 +305887,12 @@ + + + + + + @@ -268055,6 +305910,12 @@ + + + + + + @@ -268089,6 +305950,7 @@ muscle alpha kinase myocyte induction/differentiation originator ALPK3 + @@ -268097,6 +305959,12 @@ + + + + + + @@ -268114,6 +305982,12 @@ + + + + + + @@ -268146,6 +306020,7 @@ armadillo repeat-containing protein 9 kiaa1868 ARMC9 + @@ -268154,6 +306029,12 @@ + + + + + + @@ -268170,6 +306051,12 @@ + + + + + + @@ -268205,6 +306092,7 @@ kiaa0423 tog array regulator of axonemal microtubules 1 TOGARAM1 + @@ -268229,6 +306117,7 @@ misato mitochondrial distribution and morphology regulator 1 misato, drosophila, homolog of MSTO1 + @@ -268237,6 +306126,12 @@ + + + + + + @@ -268266,6 +306161,12 @@ + + + + + + @@ -268299,6 +306200,7 @@ iq domain-containing protein e kiaa1023 IQCE + @@ -268307,6 +306209,12 @@ + + + + + + @@ -268324,6 +306232,12 @@ + + + + + + @@ -268342,6 +306256,12 @@ + + + + + + @@ -268371,6 +306291,12 @@ + + + + + + @@ -268387,6 +306313,12 @@ + + + + + + @@ -268404,6 +306336,12 @@ + + + + + + @@ -268431,6 +306369,12 @@ + + + + + + @@ -268448,6 +306392,12 @@ + + + + + + @@ -268481,6 +306431,7 @@ sulfide dehydrogenase-like sulfide:quinone oxidoreductase SQOR + @@ -268503,6 +306454,7 @@ LIPT2 lipoyl(octanoyl) transferase 2 LIPT2 + @@ -268511,6 +306463,12 @@ + + + + + + @@ -268542,6 +306500,12 @@ + + + + + + @@ -268570,6 +306534,12 @@ + + + + + + @@ -268587,6 +306557,12 @@ + + + + + + @@ -268616,6 +306592,12 @@ + + + + + + @@ -268632,6 +306614,12 @@ + + + + + + @@ -268649,6 +306637,12 @@ + + + + + + @@ -268693,6 +306687,12 @@ + + + + + + @@ -268710,6 +306710,12 @@ + + + + + + @@ -268726,6 +306732,12 @@ + + + + + + @@ -268743,6 +306755,12 @@ + + + + + + @@ -268759,6 +306777,12 @@ + + + + + + @@ -268802,6 +306826,7 @@ TBC1D23 tbc1 domain family, member 23 TBC1D23 + @@ -268831,6 +306856,12 @@ + + + + + + @@ -268849,6 +306880,12 @@ + + + + + + @@ -268866,6 +306903,12 @@ + + + + + + @@ -268894,6 +306937,12 @@ + + + + + + @@ -268910,6 +306959,12 @@ + + + + + + @@ -268949,6 +307004,12 @@ + + + + + + @@ -268967,6 +307028,12 @@ + + + + + + @@ -268996,6 +307063,12 @@ + + + + + + @@ -269053,6 +307126,7 @@ centrosomal protein, 295-kd kiaa1731 CEP295 + @@ -269061,6 +307135,12 @@ + + + + + + @@ -269078,6 +307158,12 @@ + + + + + + @@ -269095,6 +307181,12 @@ + + + + + + @@ -269111,6 +307203,12 @@ + + + + + + @@ -269128,6 +307226,12 @@ + + + + + + @@ -269145,6 +307249,12 @@ + + + + + + @@ -269184,6 +307294,12 @@ + + + + + + @@ -269201,6 +307317,12 @@ + + + + + + @@ -269273,6 +307395,12 @@ + + + + + + @@ -269289,6 +307417,12 @@ + + + + + + @@ -269306,6 +307440,12 @@ + + + + + + @@ -269323,6 +307463,12 @@ + + + + + + @@ -269340,6 +307486,12 @@ + + + + + + @@ -269357,6 +307509,12 @@ + + + + + + @@ -269374,6 +307532,12 @@ + + + + + + @@ -269392,6 +307556,12 @@ + + + + + + @@ -269421,6 +307591,12 @@ + + + + + + @@ -269456,6 +307632,7 @@ chromosome 5 open reading fame 14 thioredoxin domain-containing protein 15 TXNDC15 + @@ -269528,6 +307705,12 @@ + + + + + + @@ -269545,6 +307728,12 @@ + + + + + + @@ -269563,6 +307752,12 @@ + + + + + + @@ -269581,6 +307776,12 @@ + + + + + + @@ -269611,6 +307812,12 @@ + + + + + + @@ -269639,6 +307846,12 @@ + + + + + + @@ -269655,6 +307868,12 @@ + + + + + + @@ -269682,6 +307901,12 @@ + + + + + + @@ -269700,6 +307925,12 @@ + + + + + + @@ -269727,6 +307958,12 @@ + + + + + + @@ -269745,6 +307982,12 @@ + + + + + + @@ -269781,6 +308024,7 @@ spc97, s. pombe, homolog of tubulin-gamma complex-associated protein 2 TUBGCP2 + @@ -269844,6 +308088,7 @@ chromosome 21 open reading frame 107 wd repeat-containing protein 9 BRWD1 + @@ -269852,6 +308097,12 @@ + + + + + + @@ -269869,6 +308120,12 @@ + + + + + + @@ -269905,6 +308162,7 @@ zinc finger homeobox 5 zinc finger protein 409 ZFHX2 + @@ -269913,6 +308171,12 @@ + + + + + + @@ -269991,6 +308255,7 @@ isopentenyltransferase trna isopentenyltransferase 1 TRIT1 + @@ -270014,6 +308279,7 @@ coiled-coil domain-containing protein 23 small vasohibin-binding protein SVBP + @@ -270022,6 +308288,12 @@ + + + + + + @@ -270039,6 +308311,12 @@ + + + + + + @@ -270067,6 +308345,12 @@ + + + + + + @@ -270120,6 +308404,7 @@ naf1, s. cerevisiae, homolog of nuclear assembly factor 1 ribonucleoprotein NAF1 + @@ -270139,6 +308424,12 @@ + + + + + + @@ -270156,6 +308447,12 @@ + + + + + + @@ -270211,6 +308508,7 @@ rnu7 u7.1 RNU7-1 + @@ -270245,6 +308543,7 @@ h2-alpha tubulin, alpha-3d TUBA3D + @@ -270252,6 +308551,12 @@ + + + + + + @@ -270290,6 +308595,12 @@ + + + + + + @@ -270319,6 +308630,12 @@ + + + + + + @@ -270347,6 +308664,12 @@ + + + + + + @@ -270423,6 +308746,7 @@ LSM11 lsm11, u7 small nuclear rna-associated protein LSM11 + @@ -270440,6 +308764,12 @@ + + + + + + @@ -270456,6 +308786,12 @@ + + + + + + @@ -270483,6 +308819,12 @@ + + + + + + @@ -270500,6 +308842,12 @@ + + + + + + @@ -270517,6 +308865,12 @@ + + + + + + @@ -270534,6 +308888,12 @@ + + + + + + @@ -270658,6 +309018,12 @@ + + + + + + @@ -270677,6 +309043,12 @@ + + + + + + @@ -270694,6 +309066,12 @@ + + + + + + @@ -270739,6 +309117,12 @@ + + + + + + @@ -270797,6 +309181,12 @@ + + + + + + @@ -270830,6 +309220,7 @@ endoplasmic reticulum-golgi intermediate compartment protein, 32-kd kiaa1181 ERGIC1 + @@ -270865,6 +309256,7 @@ chromosome 7 open reading frame 63 cilia- and flagella-associated protein 69 CFAP69 + @@ -270873,6 +309265,12 @@ + + + + + + @@ -270890,6 +309288,12 @@ + + + + + + @@ -270907,6 +309311,12 @@ + + + + + + @@ -270934,6 +309344,12 @@ + + + + + + @@ -270974,6 +309390,12 @@ + + + + + + @@ -270991,6 +309413,12 @@ + + + + + + @@ -271008,6 +309436,12 @@ + + + + + + @@ -271042,6 +309476,7 @@ spindle e, drosophila, homolog of tudor domain-containing protein 9 TDRD9 + @@ -271050,6 +309485,12 @@ + + + + + + @@ -271067,6 +309508,12 @@ + + + + + + @@ -271107,6 +309554,12 @@ + + + + + + @@ -271152,6 +309605,12 @@ + + + + + + @@ -271169,6 +309628,12 @@ + + + + + + @@ -271212,6 +309677,12 @@ + + + + + + @@ -271229,6 +309700,12 @@ + + + + + + @@ -271246,6 +309723,12 @@ + + + + + + @@ -271263,6 +309746,12 @@ + + + + + + @@ -271298,6 +309787,7 @@ methyltransferase 13, eef1a lysine and n-terminal methyltransferase methyltransferase-like 13 METTL13 + @@ -271305,6 +309795,12 @@ + + + + + + @@ -271313,6 +309809,7 @@ JABELS jaberi-elahi syndrome + neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 2 jaberi-elahi syndrome @@ -271321,6 +309818,12 @@ + + + + + + @@ -271358,6 +309861,12 @@ + + + + + + @@ -271374,6 +309883,12 @@ + + + + + + @@ -271391,6 +309906,12 @@ + + + + + + @@ -271409,6 +309930,12 @@ + + + + + + @@ -271437,6 +309964,12 @@ + + + + + + @@ -271455,6 +309988,12 @@ + + + + + + @@ -271473,6 +310012,12 @@ + + + + + + @@ -271499,6 +310044,12 @@ + + + + + + @@ -271517,6 +310068,12 @@ + + + + + + @@ -271534,6 +310091,12 @@ + + + + + + @@ -271551,6 +310114,12 @@ + + + + + + @@ -271579,6 +310148,12 @@ + + + + + + @@ -271596,6 +310171,12 @@ + + + + + + @@ -271613,6 +310194,12 @@ + + + + + + @@ -271647,6 +310234,7 @@ u11/u12 small nuclear ribonucleoprotein, 65-kd protein u11/u12 snrnp, 65-kd protein RNPC3 + @@ -271654,6 +310242,12 @@ + + + + + + @@ -271752,6 +310346,12 @@ + + + + + + @@ -271809,6 +310409,7 @@ shortage 1n chiasmata 1, arabidopsis, homolog of zip2, s. cerevisiae, homolog of SHOC1 + @@ -271817,6 +310418,12 @@ + + + + + + @@ -271846,6 +310453,12 @@ + + + + + + @@ -271865,6 +310478,12 @@ + + + + + + @@ -271898,6 +310517,7 @@ chromosome 1 open reading frame 106 innate immunity activator INAVA + @@ -271906,6 +310526,12 @@ + + + + + + @@ -271932,6 +310558,12 @@ + + + + + + @@ -271966,6 +310598,7 @@ chromosome 11 open reading frame 70 cilia- and flagella-associated protein 300 CFAP300 + @@ -271973,6 +310606,12 @@ + + + + + + @@ -271990,6 +310629,12 @@ + + + + + + @@ -272007,6 +310652,12 @@ + + + + + + @@ -272040,6 +310691,7 @@ cox16, s. cerevisiae, homolog of cytochrome c oxidase assembly factor 16 COX16 + @@ -272048,6 +310700,12 @@ + + + + + + @@ -272065,6 +310723,12 @@ + + + + + + @@ -272098,6 +310762,7 @@ sam domain-containing protein 12 sterile alpha motif domain-containing protein 12 SAMD12 + @@ -272106,6 +310771,12 @@ + + + + + + @@ -272125,6 +310796,12 @@ + + + + + + @@ -272143,6 +310820,12 @@ + + + + + + @@ -272160,6 +310843,12 @@ + + + + + + @@ -272187,6 +310876,12 @@ + + + + + + @@ -272220,6 +310915,7 @@ splicing factor that interacts with pqbp1 and pp1 ww-binding protein 11 WBP11 + @@ -272228,6 +310924,12 @@ + + + + + + @@ -272261,6 +310963,7 @@ polyamine-modulated factor 1-binding protein 1 sperm tail-associated protein PMFBP1 + @@ -272289,6 +310992,12 @@ + + + + + + @@ -272305,6 +311014,12 @@ + + + + + + @@ -272321,6 +311036,12 @@ + + + + + + @@ -272338,6 +311059,12 @@ + + + + + + @@ -272433,6 +311160,12 @@ + + + + + + @@ -272451,6 +311184,12 @@ + + + + + + @@ -272491,6 +311230,12 @@ + + + + + + @@ -272509,6 +311254,12 @@ + + + + + + @@ -272526,6 +311277,12 @@ + + + + + + @@ -272576,6 +311333,12 @@ + + + + + + @@ -272604,6 +311367,12 @@ + + + + + + @@ -272632,6 +311401,12 @@ + + + + + + @@ -272703,6 +311478,7 @@ GDAP2 ganglioside-induced differentiation-associated protein 2 GDAP2 + @@ -272723,6 +311499,12 @@ + + + + + + @@ -272765,6 +311547,12 @@ + + + + + + @@ -272782,6 +311570,12 @@ + + + + + + @@ -272799,6 +311593,12 @@ + + + + + + @@ -272816,6 +311616,12 @@ + + + + + + @@ -272834,6 +311640,12 @@ + + + + + + @@ -272851,6 +311663,12 @@ + + + + + + @@ -272883,6 +311701,7 @@ cilia- and flagella-associated protein 251 wd repeat-containing protein 66 CFAP251 + @@ -272890,6 +311709,12 @@ + + + + + + @@ -272908,6 +311733,12 @@ + + + + + + @@ -272951,6 +311782,12 @@ + + + + + + @@ -272968,6 +311805,12 @@ + + + + + + @@ -272985,6 +311828,12 @@ + + + + + + @@ -273001,6 +311850,12 @@ + + + + + + @@ -273017,6 +311872,12 @@ + + + + + + @@ -273035,6 +311896,12 @@ + + + + + + @@ -273053,6 +311920,12 @@ + + + + + + @@ -273086,6 +311959,7 @@ klraq motif-containing protein 1 protein phosphatase 1, regulatory subunit 21 PPP1R21 + @@ -273094,6 +311968,12 @@ + + + + + + @@ -273122,6 +312002,12 @@ + + + + + + @@ -273155,6 +312041,7 @@ kiaa0195 transmembrane protein 94 TMEM94 + @@ -273162,6 +312049,12 @@ + + + + + + @@ -273189,6 +312082,12 @@ + + + + + + @@ -273206,6 +312105,12 @@ + + + + + + @@ -273222,6 +312127,12 @@ + + + + + + @@ -273250,6 +312161,12 @@ + + + + + + @@ -273277,6 +312194,12 @@ + + + + + + @@ -273305,6 +312228,12 @@ + + + + + + @@ -273322,6 +312251,12 @@ + + + + + + @@ -273366,6 +312301,7 @@ ckii-alpha-i1, drosophila, homolog of zinc finger- and btb domain-containing protein 11 ZBTB11 + @@ -273374,6 +312310,12 @@ + + + + + + @@ -273391,6 +312333,12 @@ + + + + + + @@ -273419,6 +312367,12 @@ + + + + + + @@ -273447,6 +312401,12 @@ + + + + + + @@ -273464,6 +312424,12 @@ + + + + + + @@ -273481,6 +312447,12 @@ + + + + + + @@ -273498,6 +312470,12 @@ + + + + + + @@ -273514,6 +312492,12 @@ + + + + + + @@ -273553,6 +312537,12 @@ + + + + + + @@ -273570,6 +312560,12 @@ + + + + + + @@ -273603,6 +312599,7 @@ dnaj/hsp40 homolog, subfamily c, member 30 williams-beuren syndrome chromosome region 18 DNAJC30 + @@ -273625,6 +312622,7 @@ TMTC4 transmembrane and tetratricopeptide repeat domains-containing protein 4 TMTC4 + @@ -273643,6 +312641,12 @@ + + + + + + @@ -273677,6 +312681,7 @@ pitrilysin metallopeptidase 1 presequence protease PITRM1 + @@ -273694,6 +312699,12 @@ + + + + + + @@ -273712,6 +312723,12 @@ + + + + + + @@ -273729,6 +312746,12 @@ + + + + + + @@ -273764,6 +312787,12 @@ + + + + + + @@ -273780,6 +312809,12 @@ + + + + + + @@ -273797,6 +312832,12 @@ + + + + + + @@ -273814,6 +312855,12 @@ + + + + + + @@ -273831,6 +312878,12 @@ + + + + + + @@ -273862,6 +312915,7 @@ LRRC56 leucine-rich repeat-containing protein 56 LRRC56 + @@ -273881,6 +312935,12 @@ + + + + + + @@ -273898,6 +312958,12 @@ + + + + + + @@ -273915,6 +312981,12 @@ + + + + + + @@ -273932,6 +313004,12 @@ + + + + + + @@ -273949,6 +313027,12 @@ + + + + + + @@ -273966,6 +313050,12 @@ + + + + + + @@ -273983,6 +313073,12 @@ + + + + + + @@ -274000,6 +313096,12 @@ + + + + + + @@ -274017,6 +313119,12 @@ + + + + + + @@ -274034,6 +313142,12 @@ + + + + + + @@ -274062,6 +313176,12 @@ + + + + + + @@ -274079,6 +313199,12 @@ + + + + + + @@ -274096,6 +313222,12 @@ + + + + + + @@ -274113,6 +313245,12 @@ + + + + + + @@ -274130,6 +313268,12 @@ + + + + + + @@ -274147,6 +313291,12 @@ + + + + + + @@ -274164,6 +313314,12 @@ + + + + + + @@ -274181,6 +313337,12 @@ + + + + + + @@ -274220,6 +313382,12 @@ + + + + + + @@ -274237,6 +313405,12 @@ + + + + + + @@ -274254,6 +313428,12 @@ + + + + + + @@ -274271,6 +313451,12 @@ + + + + + + @@ -274288,6 +313474,12 @@ + + + + + + @@ -274322,6 +313514,7 @@ myogenesis-regulating glycosidase nuclear envelope transmembrane protein 37 MYORG + @@ -274339,6 +313532,12 @@ + + + + + + @@ -274371,6 +313570,7 @@ calumin coiled-coil domain-containing protein 47 CCDC47 + @@ -274379,6 +313579,12 @@ + + + + + + @@ -274397,6 +313603,12 @@ + + + + + + @@ -274435,6 +313647,12 @@ + + + + + + @@ -274451,6 +313669,12 @@ + + + + + + @@ -274482,6 +313706,7 @@ ZNF341 zinc finger protein 341 ZNF341 + @@ -274490,6 +313715,12 @@ + + + + + + @@ -274517,6 +313748,12 @@ + + + + + + @@ -274544,6 +313781,12 @@ + + + + + + @@ -274575,6 +313818,7 @@ NHLRC2 nhl repeat-containing protein 2 NHLRC2 + @@ -274582,6 +313826,12 @@ + + + + + + @@ -274599,6 +313849,12 @@ + + + + + + @@ -274626,6 +313882,12 @@ + + + + + + @@ -274643,6 +313905,12 @@ + + + + + + @@ -274659,6 +313927,12 @@ + + + + + + @@ -274676,6 +313950,12 @@ + + + + + + @@ -274693,6 +313973,12 @@ + + + + + + @@ -274711,6 +313997,12 @@ + + + + + + @@ -274739,6 +314031,12 @@ + + + + + + @@ -274756,6 +314054,12 @@ + + + + + + @@ -274774,6 +314078,12 @@ + + + + + + @@ -274823,6 +314133,12 @@ + + + + + + @@ -274841,6 +314157,12 @@ + + + + + + @@ -274873,6 +314195,7 @@ QRICH2 glutamine-rich protein 2 QRICH2 + @@ -274881,6 +314204,12 @@ + + + + + + @@ -274898,6 +314227,12 @@ + + + + + + @@ -274915,6 +314250,12 @@ + + + + + + @@ -274932,6 +314273,12 @@ + + + + + + @@ -274949,6 +314296,12 @@ + + + + + + @@ -274991,6 +314344,7 @@ RPL35 ribosomal protein l35 RPL35 + @@ -274998,6 +314352,12 @@ + + + + + + @@ -275015,6 +314375,12 @@ + + + + + + @@ -275048,6 +314414,7 @@ pr domain-containing protein 10 tristanin PRDM10 + @@ -275056,6 +314423,12 @@ + + + + + + @@ -275084,6 +314457,12 @@ + + + + + + @@ -275101,6 +314480,12 @@ + + + + + + @@ -275131,6 +314516,12 @@ + + + + + + @@ -275147,6 +314538,12 @@ + + + + + + @@ -275163,6 +314560,12 @@ + + + + + + @@ -275218,6 +314621,7 @@ cytochrome b(-254) chaperone 1 essential for reactive oxygen species CYBC1 + @@ -275247,6 +314651,12 @@ + + + + + + @@ -275263,6 +314673,12 @@ + + + + + + @@ -275290,6 +314706,12 @@ + + + + + + @@ -275365,6 +314787,7 @@ chromosome 7 open reading frame 43 microtubule-associated protein 11 MAP11 + @@ -275373,6 +314796,12 @@ + + + + + + @@ -275400,6 +314829,12 @@ + + + + + + @@ -275418,6 +314853,12 @@ + + + + + + @@ -275435,6 +314876,12 @@ + + + + + + @@ -275452,6 +314899,12 @@ + + + + + + @@ -275469,6 +314922,12 @@ + + + + + + @@ -275486,6 +314945,12 @@ + + + + + + @@ -275504,6 +314969,12 @@ + + + + + + @@ -275520,6 +314991,12 @@ + + + + + + @@ -275563,6 +315040,7 @@ zinc finger protein 206 zinc finger- and scan domain-containing protein 10 ZSCAN10 + @@ -275570,6 +315048,12 @@ + + + + + + @@ -275587,6 +315071,12 @@ + + + + + + @@ -275603,6 +315093,12 @@ + + + + + + @@ -275620,6 +315116,12 @@ + + + + + + @@ -275649,6 +315151,12 @@ + + + + + + @@ -275684,6 +315192,12 @@ + + + + + + @@ -275701,6 +315215,12 @@ + + + + + + @@ -275718,6 +315238,12 @@ + + + + + + @@ -275735,16 +315261,23 @@ + + + + + + - MRT69 + NEDMCB intellectual developmental disorder, autosomal recessive 69 mental retardation, autosomal recessive 69 - intellectual developmental disorder, autosomal recessive 69 + neurodevelopmental disorder with progressive movement abnormalities, cognitive decline, and brain abnormalities + neurodevelopmental disorder with progressive movement abnormalities, cognitive decline, and brain abnormalities @@ -275752,6 +315285,12 @@ + + + + + + @@ -275784,6 +315323,7 @@ cyclase-associated actin cytoskeleton regulatory protein 2 cyclase-associated protein 2 CAP2 + @@ -275792,6 +315332,12 @@ + + + + + + @@ -275810,6 +315356,12 @@ + + + + + + @@ -275848,6 +315400,12 @@ + + + + + + @@ -275866,6 +315424,12 @@ + + + + + + @@ -275883,6 +315447,12 @@ + + + + + + @@ -275901,6 +315471,12 @@ + + + + + + @@ -275930,6 +315506,12 @@ + + + + + + @@ -275946,6 +315528,12 @@ + + + + + + @@ -275975,6 +315563,12 @@ + + + + + + @@ -275993,6 +315587,12 @@ + + + + + + @@ -276062,6 +315662,7 @@ family with sequence similarity 149, member b1 kiaa0974 FAM149B1 + @@ -276070,6 +315671,12 @@ + + + + + + @@ -276088,6 +315695,12 @@ + + + + + + @@ -276104,6 +315717,12 @@ + + + + + + @@ -276120,6 +315739,12 @@ + + + + + + @@ -276175,6 +315800,7 @@ rec114 meiotic recombination protein rec114, s. cerevisiae, homolog of REC114 + @@ -276183,6 +315809,12 @@ + + + + + + @@ -276214,6 +315846,7 @@ ARMC2 armadillo repeat-containing protein 2 ARMC2 + @@ -276221,6 +315854,12 @@ + + + + + + @@ -276259,6 +315898,12 @@ + + + + + + @@ -276275,6 +315920,12 @@ + + + + + + @@ -276292,6 +315943,12 @@ + + + + + + @@ -276326,6 +315983,12 @@ + + + + + + @@ -276354,6 +316017,12 @@ + + + + + + @@ -276382,6 +316051,12 @@ + + + + + + @@ -276400,6 +316075,12 @@ + + + + + + @@ -276431,6 +316112,7 @@ USP45 ubiquitin-specific protease 45 USP45 + @@ -276438,6 +316120,12 @@ + + + + + + @@ -276455,6 +316143,12 @@ + + + + + + @@ -276483,6 +316177,12 @@ + + + + + + @@ -276499,6 +316199,12 @@ + + + + + + @@ -276515,6 +316221,12 @@ + + + + + + @@ -276557,6 +316269,7 @@ hephaestin-like protein 1 zyklopen HEPHL1 + @@ -276565,6 +316278,12 @@ + + + + + + @@ -276582,6 +316301,12 @@ + + + + + + @@ -276599,6 +316324,12 @@ + + + + + + @@ -276616,6 +316347,12 @@ + + + + + + @@ -276632,6 +316369,12 @@ + + + + + + @@ -276666,6 +316409,7 @@ chromosome 17 open reading frame 89 nadh-ubiquinone oxidoreductase complex assembly factor 8 NDUFAF8 + @@ -276697,6 +316441,12 @@ + + + + + + @@ -276750,6 +316500,12 @@ + + + + + + @@ -276777,6 +316533,12 @@ + + + + + + @@ -276793,6 +316555,12 @@ + + + + + + @@ -276809,6 +316577,12 @@ + + + + + + @@ -276826,6 +316600,12 @@ + + + + + + @@ -276866,6 +316646,12 @@ + + + + + + @@ -276882,6 +316668,12 @@ + + + + + + @@ -276909,6 +316701,12 @@ + + + + + + @@ -276929,6 +316727,12 @@ + + + + + + @@ -276947,6 +316751,12 @@ + + + + + + @@ -276964,6 +316774,12 @@ + + + + + + @@ -276981,6 +316797,12 @@ + + + + + + @@ -277008,6 +316830,12 @@ + + + + + + @@ -277025,6 +316853,12 @@ + + + + + + @@ -277042,6 +316876,12 @@ + + + + + + @@ -277060,6 +316900,12 @@ + + + + + + @@ -277077,6 +316923,12 @@ + + + + + + @@ -277095,6 +316947,12 @@ + + + + + + @@ -277112,6 +316970,12 @@ + + + + + + @@ -277129,6 +316993,12 @@ + + + + + + @@ -277171,6 +317041,12 @@ + + + + + + @@ -277206,6 +317082,12 @@ + + + + + + @@ -277245,6 +317127,12 @@ + + + + + + @@ -277262,6 +317150,12 @@ + + + + + + @@ -277304,6 +317198,7 @@ rab, member of ras oncogene family-like 3 rab-like 3 RABL3 + @@ -277312,6 +317207,12 @@ + + + + + + @@ -277340,6 +317241,12 @@ + + + + + + @@ -277359,6 +317266,12 @@ + + + + + + @@ -277376,6 +317289,12 @@ + + + + + + @@ -277417,6 +317336,12 @@ + + + + + + @@ -277446,6 +317371,12 @@ + + + + + + @@ -277462,6 +317393,12 @@ + + + + + + @@ -277494,6 +317431,7 @@ lin41, c. elegans, homolog of tripartite motif-containing protein 71 TRIM71 + @@ -277501,6 +317439,12 @@ + + + + + + @@ -277517,6 +317461,12 @@ + + + + + + @@ -277534,6 +317484,12 @@ + + + + + + @@ -277551,6 +317507,12 @@ + + + + + + @@ -277580,6 +317542,12 @@ + + + + + + @@ -277613,6 +317581,7 @@ WDR37 wd repeat-containing protein 37 WDR37 + @@ -277621,6 +317590,12 @@ + + + + + + @@ -277638,6 +317613,12 @@ + + + + + + @@ -277667,6 +317648,12 @@ + + + + + + @@ -277705,6 +317692,12 @@ + + + + + + @@ -277721,6 +317714,12 @@ + + + + + + @@ -277738,6 +317737,12 @@ + + + + + + @@ -277754,6 +317759,12 @@ + + + + + + @@ -277789,6 +317800,7 @@ homologous recombination factor with ob-fold mcm8-9-interacting protein HROB + @@ -277796,6 +317808,12 @@ + + + + + + @@ -277813,6 +317831,12 @@ + + + + + + @@ -277829,6 +317853,12 @@ + + + + + + @@ -277845,6 +317875,12 @@ + + + + + + @@ -277862,6 +317898,12 @@ + + + + + + @@ -277878,6 +317920,12 @@ + + + + + + @@ -277906,6 +317954,12 @@ + + + + + + @@ -277940,6 +317994,7 @@ methyltransferase 5, n6-adenosine methyltransferase-like 5 METTL5 + @@ -277957,6 +318012,12 @@ + + + + + + @@ -277974,6 +318035,12 @@ + + + + + + @@ -278005,6 +318072,7 @@ NUTM2BAS1 nutm2b antisense RNA 1 NUTM2BAS1 + @@ -278013,6 +318081,12 @@ + + + + + + @@ -278030,6 +318104,12 @@ + + + + + + @@ -278047,6 +318127,12 @@ + + + + + + @@ -278064,6 +318150,12 @@ + + + + + + @@ -278082,6 +318174,12 @@ + + + + + + @@ -278098,6 +318196,12 @@ + + + + + + @@ -278115,6 +318219,12 @@ + + + + + + @@ -278131,6 +318241,12 @@ + + + + + + @@ -278188,6 +318304,7 @@ proline- and glutamate-rich protein with coiled-coil domain 1 This term has one or more labels that end with ', INCLUDED'. PERCC1 + @@ -278196,6 +318313,12 @@ + + + + + + @@ -278212,6 +318335,12 @@ + + + + + + @@ -278228,6 +318357,12 @@ + + + + + + @@ -278260,6 +318395,7 @@ tetratricopeptide repeat-containing protein 18 tpr repeat protein 18 CFAP70 + @@ -278268,6 +318404,12 @@ + + + + + + @@ -278298,6 +318440,12 @@ + + + + + + @@ -278315,6 +318463,12 @@ + + + + + + @@ -278333,6 +318487,12 @@ + + + + + + @@ -278350,6 +318510,12 @@ + + + + + + @@ -278368,6 +318534,12 @@ + + + + + + @@ -278384,6 +318556,12 @@ + + + + + + @@ -278401,6 +318579,12 @@ + + + + + + @@ -278428,6 +318612,12 @@ + + + + + + @@ -278455,6 +318645,12 @@ + + + + + + @@ -278487,6 +318683,7 @@ kiaa0792 transmembrane protein 63a TMEM63A + @@ -278494,6 +318691,12 @@ + + + + + + @@ -278511,6 +318714,12 @@ + + + + + + @@ -278542,6 +318751,7 @@ NTNG2 netrin g2 NTNG2 + @@ -278550,6 +318760,12 @@ + + + + + + @@ -278579,6 +318795,12 @@ + + + + + + @@ -278596,6 +318818,12 @@ + + + + + + @@ -278612,6 +318840,12 @@ + + + + + + @@ -278629,6 +318863,12 @@ + + + + + + @@ -278645,6 +318885,12 @@ + + + + + + @@ -278661,6 +318907,12 @@ + + + + + + @@ -278678,6 +318930,12 @@ + + + + + + @@ -278698,6 +318956,12 @@ + + + + + + @@ -278725,6 +318989,12 @@ + + + + + + @@ -278757,6 +319027,7 @@ never 1n mitosis a-related kinase 10 nima-related kinase 10 NEK10 + @@ -278764,6 +319035,12 @@ + + + + + + @@ -278780,6 +319057,12 @@ + + + + + + @@ -278806,6 +319089,12 @@ + + + + + + @@ -278833,6 +319122,12 @@ + + + + + + @@ -278849,6 +319144,12 @@ + + + + + + @@ -278892,6 +319193,7 @@ nyd-sp14 tetratricopeptide repeat domain-containing protein 29 TTC29 + @@ -278910,6 +319212,12 @@ + + + + + + @@ -278927,6 +319235,12 @@ + + + + + + @@ -278944,6 +319258,12 @@ + + + + + + @@ -278963,6 +319283,12 @@ + + + + + + @@ -278979,6 +319305,12 @@ + + + + + + @@ -278996,6 +319328,12 @@ + + + + + + @@ -279013,6 +319351,12 @@ + + + + + + @@ -279031,6 +319375,12 @@ + + + + + + @@ -279047,6 +319397,12 @@ + + + + + + @@ -279065,6 +319421,12 @@ + + + + + + @@ -279082,6 +319444,12 @@ + + + + + + @@ -279101,6 +319469,12 @@ + + + + + + @@ -279118,6 +319492,12 @@ + + + + + + @@ -279135,6 +319515,12 @@ + + + + + + @@ -279152,6 +319538,12 @@ + + + + + + @@ -279181,6 +319573,12 @@ + + + + + + @@ -279198,6 +319596,12 @@ + + + + + + @@ -279226,6 +319630,12 @@ + + + + + + @@ -279253,6 +319663,12 @@ + + + + + + @@ -279284,6 +319700,12 @@ + + + + + + @@ -279301,6 +319723,12 @@ + + + + + + @@ -279332,6 +319760,7 @@ CCDC134 coiled-coil domain-containing protein 134 CCDC134 + @@ -279340,6 +319769,12 @@ + + + + + + @@ -279359,6 +319794,12 @@ + + + + + + @@ -279376,6 +319817,12 @@ + + + + + + @@ -279392,6 +319839,12 @@ + + + + + + @@ -279408,6 +319861,12 @@ + + + + + + @@ -279425,6 +319884,12 @@ + + + + + + @@ -279442,6 +319907,12 @@ + + + + + + @@ -279477,6 +319948,7 @@ trna-his guanylyltransferase 1, s. cerevisiae, homolog of trna-histidine guanylyltransferase 1-like protein THG1L + @@ -279494,6 +319966,12 @@ + + + + + + @@ -279510,6 +319988,12 @@ + + + + + + @@ -279549,6 +320033,12 @@ + + + + + + @@ -279579,6 +320069,12 @@ + + + + + + @@ -279610,6 +320106,12 @@ + + + + + + @@ -279626,6 +320128,12 @@ + + + + + + @@ -279667,6 +320175,12 @@ + + + + + + @@ -279707,6 +320221,12 @@ + + + + + + @@ -279746,6 +320266,12 @@ + + + + + + @@ -279774,6 +320300,12 @@ + + + + + + @@ -279791,6 +320323,12 @@ + + + + + + @@ -279808,6 +320346,12 @@ + + + + + + @@ -279837,6 +320381,12 @@ + + + + + + @@ -279854,6 +320404,12 @@ + + + + + + @@ -279871,6 +320427,12 @@ + + + + + + @@ -279889,6 +320451,12 @@ + + + + + + @@ -279906,6 +320474,12 @@ + + + + + + @@ -279923,6 +320497,12 @@ + + + + + + @@ -279939,6 +320519,12 @@ + + + + + + @@ -279957,6 +320543,12 @@ + + + + + + @@ -279986,6 +320578,12 @@ + + + + + + @@ -280003,6 +320601,12 @@ + + + + + + @@ -280056,6 +320660,12 @@ + + + + + + @@ -280072,6 +320682,12 @@ + + + + + + @@ -280088,6 +320704,12 @@ + + + + + + @@ -280121,6 +320743,7 @@ cep85-like protein chromosome 6 open reading frame 204 CEP85L + @@ -280139,6 +320762,12 @@ + + + + + + @@ -280155,6 +320784,12 @@ + + + + + + @@ -280171,6 +320806,12 @@ + + + + + + @@ -280188,6 +320829,12 @@ + + + + + + @@ -280220,6 +320867,12 @@ + + + + + + @@ -280237,6 +320890,12 @@ + + + + + + @@ -280264,6 +320923,12 @@ + + + + + + @@ -280281,6 +320946,12 @@ + + + + + + @@ -280309,6 +320980,12 @@ + + + + + + @@ -280327,6 +321004,12 @@ + + + + + + @@ -280366,6 +321049,12 @@ + + + + + + @@ -280394,6 +321083,12 @@ + + + + + + @@ -280411,6 +321106,12 @@ + + + + + + @@ -280427,6 +321128,12 @@ + + + + + + @@ -280478,6 +321185,7 @@ DALRD3 dalr anticodon-binding domain-containing protein 3 DALRD3 + @@ -280503,6 +321211,12 @@ + + + + + + @@ -280531,6 +321245,12 @@ + + + + + + @@ -280548,6 +321268,12 @@ + + + + + + @@ -280566,6 +321292,12 @@ + + + + + + @@ -280597,6 +321329,12 @@ + + + + + + @@ -280614,6 +321352,12 @@ + + + + + + @@ -280631,6 +321375,12 @@ + + + + + + @@ -280648,6 +321398,12 @@ + + + + + + @@ -280687,6 +321443,12 @@ + + + + + + @@ -280739,6 +321501,7 @@ ZNFX1 zinc finger nfx1-type domain-containing protein 1 ZNFX1 + @@ -280747,6 +321510,12 @@ + + + + + + @@ -280765,6 +321534,12 @@ + + + + + + @@ -280782,6 +321557,12 @@ + + + + + + @@ -280814,6 +321595,7 @@ chromosome 15 open reading frame 57 coiled-coil domain-containing protein 32 CCDC32 + @@ -280845,6 +321627,12 @@ + + + + + + @@ -280861,6 +321649,12 @@ + + + + + + @@ -280878,6 +321672,12 @@ + + + + + + @@ -280895,6 +321695,12 @@ + + + + + + @@ -280922,6 +321728,12 @@ + + + + + + @@ -280939,6 +321751,12 @@ + + + + + + @@ -280956,6 +321774,12 @@ + + + + + + @@ -280983,6 +321807,12 @@ + + + + + + @@ -281013,6 +321843,12 @@ + + + + + + @@ -281029,6 +321865,12 @@ + + + + + + @@ -281045,6 +321887,12 @@ + + + + + + @@ -281063,6 +321911,12 @@ + + + + + + @@ -281091,6 +321945,12 @@ + + + + + + @@ -281108,6 +321968,12 @@ + + + + + + @@ -281153,6 +322019,7 @@ synaptic vesicle membrane protein, 31-kd transmembrane protein 163 TMEM163 + @@ -281193,6 +322060,7 @@ coiled-coil domain-containing protein 46 macoco CEP112 + @@ -281218,6 +322086,7 @@ vps35 endosomal protein-sorting factor-like vps35-like protein VPS35L + @@ -281226,6 +322095,12 @@ + + + + + + @@ -281242,6 +322117,12 @@ + + + + + + @@ -281309,6 +322190,7 @@ CLRN2 clarin 2 CLRN2 + @@ -281357,6 +322239,12 @@ + + + + + + @@ -281374,6 +322262,12 @@ + + + + + + @@ -281391,6 +322285,12 @@ + + + + + + @@ -281408,6 +322308,12 @@ + + + + + + @@ -281446,6 +322352,12 @@ + + + + + + @@ -281463,6 +322375,12 @@ + + + + + + @@ -281493,6 +322411,12 @@ + + + + + + @@ -281510,6 +322434,12 @@ + + + + + + @@ -281541,6 +322471,7 @@ TTC5 tetratricopeptide repeat domain-containing protein 5 TTC5 + @@ -281561,6 +322492,12 @@ + + + + + + @@ -281578,6 +322515,12 @@ + + + + + + @@ -281617,6 +322560,12 @@ + + + + + + @@ -281633,6 +322582,12 @@ + + + + + + @@ -281680,6 +322635,12 @@ + + + + + + @@ -281718,6 +322679,12 @@ + + + + + + @@ -281735,6 +322702,12 @@ + + + + + + @@ -281752,6 +322725,12 @@ + + + + + + @@ -281769,6 +322748,12 @@ + + + + + + @@ -281786,6 +322771,12 @@ + + + + + + @@ -281803,6 +322794,12 @@ + + + + + + @@ -281820,6 +322817,12 @@ + + + + + + @@ -281837,6 +322840,12 @@ + + + + + + @@ -281864,6 +322873,12 @@ + + + + + + @@ -281881,6 +322896,12 @@ + + + + + + @@ -281898,6 +322919,12 @@ + + + + + + @@ -281915,6 +322942,12 @@ + + + + + + @@ -281932,6 +322965,12 @@ + + + + + + @@ -281949,6 +322988,12 @@ + + + + + + @@ -281966,6 +323011,12 @@ + + + + + + @@ -281983,6 +323034,12 @@ + + + + + + @@ -282000,6 +323057,12 @@ + + + + + + @@ -282017,6 +323080,12 @@ + + + + + + @@ -282033,6 +323102,12 @@ + + + + + + @@ -282049,6 +323124,12 @@ + + + + + + @@ -282065,6 +323146,12 @@ + + + + + + @@ -282081,6 +323168,12 @@ + + + + + + @@ -282098,6 +323191,12 @@ + + + + + + @@ -282115,6 +323214,12 @@ + + + + + + @@ -282152,6 +323257,12 @@ + + + + + + @@ -282179,6 +323290,12 @@ + + + + + + @@ -282196,6 +323313,12 @@ + + + + + + @@ -282243,6 +323366,12 @@ + + + + + + @@ -282260,6 +323389,12 @@ + + + + + + @@ -282277,6 +323412,12 @@ + + + + + + @@ -282333,6 +323474,7 @@ meiosis 1-associated protein spermatogenesis-associated protein 37 M1AP + @@ -282340,6 +323482,12 @@ + + + + + + @@ -282378,6 +323526,12 @@ + + + + + + @@ -282395,6 +323549,12 @@ + + + + + + @@ -282427,6 +323587,7 @@ yip1-interacting factor homolog b, membrane-trafficking protein yip1-interacting factor, s. cerevisiae, homolog of, B YIF1B + @@ -282435,6 +323596,12 @@ + + + + + + @@ -282510,6 +323677,12 @@ + + + + + + @@ -282526,6 +323699,12 @@ + + + + + + @@ -282542,6 +323721,12 @@ + + + + + + @@ -282559,6 +323744,12 @@ + + + + + + @@ -282575,6 +323766,12 @@ + + + + + + @@ -282602,6 +323799,12 @@ + + + + + + @@ -282633,6 +323836,7 @@ CFAP58 cilia- and flagella-associated protein 58 CFAP58 + @@ -282641,6 +323845,12 @@ + + + + + + @@ -282659,6 +323869,12 @@ + + + + + + @@ -282699,6 +323915,12 @@ + + + + + + @@ -282717,6 +323939,12 @@ + + + + + + @@ -282745,6 +323973,12 @@ + + + + + + @@ -282762,6 +323996,12 @@ + + + + + + @@ -282825,6 +324065,12 @@ + + + + + + @@ -282841,6 +324087,12 @@ + + + + + + @@ -282858,6 +324110,12 @@ + + + + + + @@ -282892,6 +324150,7 @@ kiaa1055 tbc1 domain family, member 2b TBC1D2B + @@ -282900,6 +324159,12 @@ + + + + + + @@ -282916,6 +324181,12 @@ + + + + + + @@ -282944,6 +324215,12 @@ + + + + + + @@ -282961,6 +324238,12 @@ + + + + + + @@ -282978,6 +324261,12 @@ + + + + + + @@ -283006,6 +324295,12 @@ + + + + + + @@ -283023,6 +324318,12 @@ + + + + + + @@ -283039,6 +324340,12 @@ + + + + + + @@ -283056,6 +324363,12 @@ + + + + + + @@ -283084,6 +324397,12 @@ + + + + + + @@ -283102,6 +324421,12 @@ + + + + + + @@ -283165,6 +324490,12 @@ + + + + + + @@ -283182,6 +324513,12 @@ + + + + + + @@ -283199,6 +324536,12 @@ + + + + + + @@ -283216,6 +324559,12 @@ + + + + + + @@ -283233,6 +324582,12 @@ + + + + + + @@ -283250,6 +324605,12 @@ + + + + + + @@ -283284,6 +324645,7 @@ probable RNA polymerase 2 nuclear localization protein slc7a6os solute carrier family 7, member 6 opposite strand SLC7A6OS + @@ -283291,6 +324653,12 @@ + + + + + + @@ -283330,6 +324698,12 @@ + + + + + + @@ -283407,6 +324781,7 @@ HS3ST6 heparan sulfate-glucosamine 3-sulfotransferase 6 HS3ST6 + @@ -283414,6 +324789,12 @@ + + + + + + @@ -283431,6 +324812,12 @@ + + + + + + @@ -283466,6 +324853,12 @@ + + + + + + @@ -283498,6 +324891,7 @@ C2ORF69 chromosome 2 open reading frame 69 C2ORF69 + @@ -283506,6 +324900,12 @@ + + + + + + @@ -283523,6 +324923,12 @@ + + + + + + @@ -283540,6 +324946,12 @@ + + + + + + @@ -283567,6 +324979,12 @@ + + + + + + @@ -283583,6 +325001,12 @@ + + + + + + @@ -283621,6 +325045,12 @@ + + + + + + @@ -283637,6 +325067,12 @@ + + + + + + @@ -283675,6 +325111,12 @@ + + + + + + @@ -283691,6 +325133,12 @@ + + + + + + @@ -283708,6 +325156,12 @@ + + + + + + @@ -283749,6 +325203,7 @@ ACTL9 actin-like 9 ACTL9 + @@ -283756,6 +325211,12 @@ + + + + + + @@ -283774,6 +325235,12 @@ + + + + + + @@ -283807,6 +325274,7 @@ hr upstream open reading frame u2hr HRURF + @@ -283815,6 +325283,12 @@ + + + + + + @@ -283853,6 +325327,12 @@ + + + + + + @@ -283869,6 +325349,12 @@ + + + + + + @@ -283898,6 +325384,12 @@ + + + + + + @@ -283916,6 +325408,12 @@ + + + + + + @@ -283945,6 +325443,12 @@ + + + + + + @@ -283961,6 +325465,12 @@ + + + + + + @@ -283990,6 +325500,12 @@ + + + + + + @@ -284006,6 +325522,12 @@ + + + + + + @@ -284048,6 +325570,7 @@ TMEM218 transmembrane protein 218 TMEM218 + @@ -284055,6 +325578,12 @@ + + + + + + @@ -284071,6 +325600,12 @@ + + + + + + @@ -284089,6 +325624,12 @@ + + + + + + @@ -284115,6 +325656,12 @@ + + + + + + @@ -284134,6 +325681,12 @@ + + + + + + @@ -284151,6 +325704,12 @@ + + + + + + @@ -284179,6 +325738,12 @@ + + + + + + @@ -284195,6 +325760,12 @@ + + + + + + @@ -284212,6 +325783,12 @@ + + + + + + @@ -284228,6 +325805,12 @@ + + + + + + @@ -284244,6 +325827,12 @@ + + + + + + @@ -284261,6 +325850,12 @@ + + + + + + @@ -284278,6 +325873,12 @@ + + + + + + @@ -284305,6 +325906,12 @@ + + + + + + @@ -284322,6 +325929,12 @@ + + + + + + @@ -284339,6 +325952,12 @@ + + + + + + @@ -284356,6 +325975,12 @@ + + + + + + @@ -284382,6 +326007,12 @@ + + + + + + @@ -284398,6 +326029,12 @@ + + + + + + @@ -284415,6 +326052,12 @@ + + + + + + @@ -284431,6 +326074,12 @@ + + + + + + @@ -284450,6 +326099,12 @@ + + + + + + @@ -284501,6 +326156,12 @@ + + + + + + @@ -284550,6 +326211,12 @@ + + + + + + @@ -284618,6 +326285,12 @@ + + + + + + @@ -284634,6 +326307,12 @@ + + + + + + @@ -284651,6 +326330,12 @@ + + + + + + @@ -284667,6 +326352,12 @@ + + + + + + @@ -284697,6 +326388,12 @@ + + + + + + @@ -284714,6 +326411,12 @@ + + + + + + @@ -284742,6 +326445,12 @@ + + + + + + @@ -284759,6 +326468,12 @@ + + + + + + @@ -284776,6 +326491,12 @@ + + + + + + @@ -284793,6 +326514,12 @@ + + + + + + @@ -284810,6 +326537,12 @@ + + + + + + @@ -284826,6 +326559,12 @@ + + + + + + @@ -284843,6 +326582,12 @@ + + + + + + @@ -284859,6 +326604,12 @@ + + + + + + @@ -284875,6 +326626,12 @@ + + + + + + @@ -284891,6 +326648,12 @@ + + + + + + @@ -284923,6 +326686,7 @@ SNORA31 small nucleolar rna, h/aca box, 31 SNORA31 + @@ -284931,6 +326695,12 @@ + + + + + + @@ -284948,6 +326718,12 @@ + + + + + + @@ -284965,6 +326741,12 @@ + + + + + + @@ -284983,6 +326765,12 @@ + + + + + + @@ -285001,6 +326789,12 @@ + + + + + + @@ -285018,6 +326812,12 @@ + + + + + + @@ -285050,6 +326850,7 @@ chromosome 2 open reading frame 62 ciliogenesis-associated ttc17-interacting protein CATIP + @@ -285058,6 +326859,12 @@ + + + + + + @@ -285077,6 +326884,12 @@ + + + + + + @@ -285095,6 +326908,12 @@ + + + + + + @@ -285123,6 +326942,12 @@ + + + + + + @@ -285140,6 +326965,12 @@ + + + + + + @@ -285157,6 +326988,12 @@ + + + + + + @@ -285173,6 +327010,12 @@ + + + + + + @@ -285190,6 +327033,12 @@ + + + + + + @@ -285230,6 +327079,12 @@ + + + + + + @@ -285247,6 +327102,12 @@ + + + + + + @@ -285293,6 +327154,12 @@ + + + + + + @@ -285310,6 +327177,12 @@ + + + + + + @@ -285338,6 +327211,12 @@ + + + + + + @@ -285355,6 +327234,12 @@ + + + + + + @@ -285372,6 +327257,12 @@ + + + + + + @@ -285389,6 +327280,12 @@ + + + + + + @@ -285453,6 +327350,7 @@ RRP7A ribosomal rna-processing protein 7 homolog a RRP7A + @@ -285461,6 +327359,12 @@ + + + + + + @@ -285478,6 +327382,12 @@ + + + + + + @@ -285495,6 +327405,12 @@ + + + + + + @@ -285511,6 +327427,12 @@ + + + + + + @@ -285551,6 +327473,12 @@ + + + + + + @@ -285589,6 +327517,12 @@ + + + + + + @@ -285616,6 +327550,12 @@ + + + + + + @@ -285648,6 +327588,7 @@ chromosome 1 open reading frame 160 transmembrane protein 222 TMEM222 + @@ -285655,6 +327596,12 @@ + + + + + + @@ -285682,6 +327629,12 @@ + + + + + + @@ -285710,6 +327663,12 @@ + + + + + + @@ -285738,6 +327697,12 @@ + + + + + + @@ -285776,6 +327741,12 @@ + + + + + + @@ -285792,6 +327763,12 @@ + + + + + + @@ -285809,6 +327786,12 @@ + + + + + + @@ -285826,6 +327809,12 @@ + + + + + + @@ -285843,6 +327832,12 @@ + + + + + + @@ -285876,6 +327871,7 @@ pregnancy-associated plasma protein a2 pregnancy-associated plasma protein e PAPPA2 + @@ -285884,6 +327880,12 @@ + + + + + + @@ -285901,6 +327903,12 @@ + + + + + + @@ -285917,6 +327925,12 @@ + + + + + + @@ -285934,6 +327948,12 @@ + + + + + + @@ -285965,6 +327985,7 @@ LMBRD2 lmbr1 domain-containing protein 2 LMBRD2 + @@ -285995,6 +328016,12 @@ + + + + + + @@ -286042,6 +328069,12 @@ + + + + + + @@ -286059,6 +328092,12 @@ + + + + + + @@ -286086,6 +328125,12 @@ + + + + + + @@ -286112,6 +328157,12 @@ + + + + + + @@ -286129,6 +328180,12 @@ + + + + + + @@ -286157,6 +328214,12 @@ + + + + + + @@ -286174,6 +328237,12 @@ + + + + + + @@ -286213,6 +328282,12 @@ + + + + + + @@ -286246,6 +328321,7 @@ poly(a)-specific ribonuclease-like domain-containing protein 1 trimmer PNLDC1 + @@ -286254,6 +328330,12 @@ + + + + + + @@ -286299,6 +328381,12 @@ + + + + + + @@ -286326,6 +328414,12 @@ + + + + + + @@ -286370,6 +328464,12 @@ + + + + + + @@ -286416,6 +328516,12 @@ + + + + + + @@ -286432,6 +328538,12 @@ + + + + + + @@ -286450,6 +328562,12 @@ + + + + + + @@ -286467,6 +328585,12 @@ + + + + + + @@ -286500,6 +328624,7 @@ ef-hand calcium-binding domain-containing protein 1 outer dynein arm docking complex subunit 5 CLXN + @@ -286508,6 +328633,12 @@ + + + + + + @@ -286526,6 +328657,12 @@ + + + + + + @@ -286543,6 +328680,12 @@ + + + + + + @@ -286571,6 +328714,12 @@ + + + + + + @@ -286587,6 +328736,12 @@ + + + + + + @@ -286678,6 +328833,12 @@ + + + + + + @@ -286754,6 +328915,7 @@ aminopeptidase o chromosome 9 opening reading frame 3 AOPEP + @@ -286772,6 +328934,12 @@ + + + + + + @@ -286811,6 +328979,12 @@ + + + + + + @@ -286828,6 +329002,12 @@ + + + + + + @@ -286845,6 +329025,12 @@ + + + + + + @@ -286862,6 +329048,12 @@ + + + + + + @@ -286890,6 +329082,12 @@ + + + + + + @@ -286951,6 +329149,12 @@ + + + + + + @@ -286986,6 +329190,7 @@ zinc finger fyve domain-containing protein 19 This term has one or more labels that end with ', INCLUDED'. ZFYVE19 + @@ -287026,6 +329231,12 @@ + + + + + + @@ -287042,6 +329253,12 @@ + + + + + + @@ -287060,6 +329277,12 @@ + + + + + + @@ -287078,6 +329301,12 @@ + + + + + + @@ -287095,6 +329324,12 @@ + + + + + + @@ -287112,6 +329347,12 @@ + + + + + + @@ -287139,6 +329380,12 @@ + + + + + + @@ -287183,6 +329430,12 @@ + + + + + + @@ -287199,6 +329452,12 @@ + + + + + + @@ -287230,6 +329489,7 @@ RPL10L ribosomal protein l10-like RPL10L + @@ -287259,6 +329519,12 @@ + + + + + + @@ -287288,6 +329554,12 @@ + + + + + + @@ -287305,6 +329577,12 @@ + + + + + + @@ -287343,6 +329621,12 @@ + + + + + + @@ -287359,6 +329643,12 @@ + + + + + + @@ -287375,6 +329665,12 @@ + + + + + + @@ -287414,6 +329710,12 @@ + + + + + + @@ -287431,6 +329733,12 @@ + + + + + + @@ -287447,6 +329755,12 @@ + + + + + + @@ -287486,6 +329800,12 @@ + + + + + + @@ -287503,6 +329823,12 @@ + + + + + + @@ -287519,6 +329845,12 @@ + + + + + + @@ -287559,6 +329891,12 @@ + + + + + + @@ -287577,6 +329915,12 @@ + + + + + + @@ -287593,6 +329937,12 @@ + + + + + + @@ -287609,6 +329959,12 @@ + + + + + + @@ -287641,6 +329997,7 @@ ciliated left-right organizer metallopeptidase leishmanolysin-like peptidase 2 CIROP + @@ -287649,6 +330006,12 @@ + + + + + + @@ -287666,6 +330029,12 @@ + + + + + + @@ -287696,6 +330065,12 @@ + + + + + + @@ -287723,6 +330098,12 @@ + + + + + + @@ -287761,6 +330142,12 @@ + + + + + + @@ -287778,6 +330165,12 @@ + + + + + + @@ -287810,6 +330203,7 @@ nuclear envelope transmembrane protein 4 transmembrane protein 53 TMEM53 + @@ -287838,6 +330232,12 @@ + + + + + + @@ -287866,6 +330266,12 @@ + + + + + + @@ -287894,6 +330300,12 @@ + + + + + + @@ -287934,6 +330346,12 @@ + + + + + + @@ -287951,6 +330369,12 @@ + + + + + + @@ -287968,6 +330392,12 @@ + + + + + + @@ -288019,6 +330449,12 @@ + + + + + + @@ -288036,6 +330472,12 @@ + + + + + + @@ -288053,6 +330495,12 @@ + + + + + + @@ -288104,6 +330552,12 @@ + + + + + + @@ -288120,6 +330574,12 @@ + + + + + + @@ -288148,6 +330608,12 @@ + + + + + + @@ -288165,6 +330631,12 @@ + + + + + + @@ -288198,6 +330670,7 @@ c2 calcium-dependent domain-containing protein 6 catsper-tau C2CD6 + @@ -288206,6 +330679,12 @@ + + + + + + @@ -288223,6 +330702,12 @@ + + + + + + @@ -288248,6 +330733,12 @@ + + + + + + @@ -288331,6 +330822,12 @@ + + + + + + @@ -288349,6 +330846,12 @@ + + + + + + @@ -288378,6 +330881,12 @@ + + + + + + @@ -288394,6 +330903,12 @@ + + + + + + @@ -288411,6 +330926,12 @@ + + + + + + @@ -288428,6 +330949,12 @@ + + + + + + @@ -288445,6 +330972,12 @@ + + + + + + @@ -288473,6 +331006,12 @@ + + + + + + @@ -288569,6 +331108,12 @@ + + + + + + @@ -288597,6 +331142,12 @@ + + + + + + @@ -288614,6 +331165,12 @@ + + + + + + @@ -288631,6 +331188,12 @@ + + + + + + @@ -288648,6 +331211,12 @@ + + + + + + @@ -288680,6 +331249,7 @@ coiled-coil domain-containing protein 146 kiaa1505 CCDC146 + @@ -288708,6 +331278,12 @@ + + + + + + @@ -288757,6 +331333,12 @@ + + + + + + @@ -288773,6 +331355,12 @@ + + + + + + @@ -288789,6 +331377,12 @@ + + + + + + @@ -288817,6 +331411,12 @@ + + + + + + @@ -288833,6 +331433,12 @@ + + + + + + @@ -288850,6 +331456,12 @@ + + + + + + @@ -288877,6 +331489,12 @@ + + + + + + @@ -288894,6 +331512,12 @@ + + + + + + @@ -288910,6 +331534,12 @@ + + + + + + @@ -288926,6 +331556,12 @@ + + + + + + @@ -288953,6 +331589,12 @@ + + + + + + @@ -288991,6 +331633,12 @@ + + + + + + @@ -289018,6 +331666,12 @@ + + + + + + @@ -289041,6 +331695,12 @@ + + + + + + @@ -289068,6 +331728,12 @@ + + + + + + @@ -289084,6 +331750,12 @@ + + + + + + @@ -289101,6 +331773,12 @@ + + + + + + @@ -289118,6 +331796,12 @@ + + + + + + @@ -289134,6 +331818,12 @@ + + + + + + @@ -289151,6 +331841,12 @@ + + + + + + @@ -289178,6 +331874,12 @@ + + + + + + @@ -289195,6 +331897,12 @@ + + + + + + @@ -289212,6 +331920,12 @@ + + + + + + @@ -289228,6 +331942,12 @@ + + + + + + @@ -289254,6 +331974,12 @@ + + + + + + @@ -289282,6 +332008,12 @@ + + + + + + @@ -289299,6 +332031,12 @@ + + + + + + @@ -289332,6 +332070,7 @@ myomerger myomixer MYMX + @@ -289340,6 +332079,12 @@ + + + + + + @@ -289379,6 +332124,12 @@ + + + + + + @@ -289386,10 +332137,10 @@ IMD105 - immunodeficiency 105 + immunodeficiency 105, severe combined scid, autosomal recessive, t cell-negative, B cell-positive, nk cell-positive severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-positive, nk cell-positive - immunodeficiency 105 + immunodeficiency 105, severe combined @@ -289434,6 +332185,12 @@ + + + + + + @@ -289474,6 +332231,12 @@ + + + + + + @@ -289502,6 +332265,12 @@ + + + + + + @@ -289519,6 +332288,12 @@ + + + + + + @@ -289536,6 +332311,12 @@ + + + + + + @@ -289567,6 +332348,7 @@ TMEM63C transmembrane protein 63c TMEM63C + @@ -289574,6 +332356,12 @@ + + + + + + @@ -289600,6 +332388,12 @@ + + + + + + @@ -289633,6 +332427,7 @@ chromosome 20 open reading frame 24 rab5-interacting factor RAB5IF + @@ -289640,6 +332435,12 @@ + + + + + + @@ -289657,6 +332458,12 @@ + + + + + + @@ -289674,6 +332481,12 @@ + + + + + + @@ -289712,6 +332525,12 @@ + + + + + + @@ -289740,6 +332559,12 @@ + + + + + + @@ -289771,6 +332596,7 @@ C18ORF32 chromosome 18 open reading frame 32 C18ORF32 + @@ -289796,6 +332622,12 @@ + + + + + + @@ -289813,6 +332645,12 @@ + + + + + + @@ -289829,6 +332667,12 @@ + + + + + + @@ -289868,6 +332712,12 @@ + + + + + + @@ -289884,6 +332734,12 @@ + + + + + + @@ -289911,6 +332767,12 @@ + + + + + + @@ -289927,6 +332789,12 @@ + + + + + + @@ -289943,6 +332811,12 @@ + + + + + + @@ -289994,6 +332868,12 @@ + + + + + + @@ -290011,6 +332891,12 @@ + + + + + + @@ -290029,6 +332915,12 @@ + + + + + + @@ -290056,6 +332948,12 @@ + + + + + + @@ -290083,6 +332981,12 @@ + + + + + + @@ -290099,6 +333003,12 @@ + + + + + + @@ -290116,6 +333026,12 @@ + + + + + + @@ -290132,6 +333048,12 @@ + + + + + + @@ -290170,6 +333092,12 @@ + + + + + + @@ -290187,6 +333115,12 @@ + + + + + + @@ -290203,6 +333137,12 @@ + + + + + + @@ -290220,6 +333160,12 @@ + + + + + + @@ -290236,6 +333182,12 @@ + + + + + + @@ -290263,6 +333215,12 @@ + + + + + + @@ -290291,6 +333249,12 @@ + + + + + + @@ -290326,6 +333290,12 @@ + + + + + + @@ -290343,6 +333313,12 @@ + + + + + + @@ -290359,6 +333335,12 @@ + + + + + + @@ -290376,6 +333358,12 @@ + + + + + + @@ -290404,6 +333392,12 @@ + + + + + + @@ -290420,6 +333414,12 @@ + + + + + + @@ -290438,6 +333438,12 @@ + + + + + + @@ -290454,6 +333460,12 @@ + + + + + + @@ -290486,6 +333498,7 @@ ltv1 ribosome biogenesis factor ltv1, s. cerevisiae, homolog of LTV1 + @@ -290493,6 +333506,12 @@ + + + + + + @@ -290533,6 +333552,12 @@ + + + + + + @@ -290550,6 +333575,12 @@ + + + + + + @@ -290566,6 +333597,12 @@ + + + + + + @@ -290582,6 +333619,12 @@ + + + + + + @@ -290598,6 +333641,12 @@ + + + + + + @@ -290614,6 +333663,12 @@ + + + + + + @@ -290630,6 +333685,12 @@ + + + + + + @@ -290646,6 +333707,12 @@ + + + + + + @@ -290675,6 +333742,12 @@ + + + + + + @@ -290692,6 +333765,12 @@ + + + + + + @@ -290710,6 +333789,12 @@ + + + + + + @@ -290727,6 +333812,12 @@ + + + + + + @@ -290760,6 +333851,7 @@ TMEM151A transmembrane protein 151a TMEM151A + @@ -290779,6 +333871,12 @@ + + + + + + @@ -290795,6 +333893,12 @@ + + + + + + @@ -290812,6 +333916,12 @@ + + + + + + @@ -290828,6 +333938,12 @@ + + + + + + @@ -290844,6 +333960,12 @@ + + + + + + @@ -290883,6 +334005,12 @@ + + + + + + @@ -290900,6 +334028,12 @@ + + + + + + @@ -290917,6 +334051,12 @@ + + + + + + @@ -290933,6 +334073,12 @@ + + + + + + @@ -290950,6 +334096,12 @@ + + + + + + @@ -290966,6 +334118,12 @@ + + + + + + @@ -290998,6 +334156,7 @@ centrosomal at-ac splicing factor coiled-coil domain-containing protein 84 CENATAC + @@ -291006,6 +334165,12 @@ + + + + + + @@ -291034,6 +334199,12 @@ + + + + + + @@ -291078,6 +334249,12 @@ + + + + + + @@ -291095,6 +334272,12 @@ + + + + + + @@ -291112,6 +334295,12 @@ + + + + + + @@ -291140,6 +334329,12 @@ + + + + + + @@ -291168,6 +334363,12 @@ + + + + + + @@ -291199,6 +334400,7 @@ IQCN iq motif-containing protein n IQCN + @@ -291207,6 +334409,12 @@ + + + + + + @@ -291235,6 +334443,12 @@ + + + + + + @@ -291252,6 +334466,12 @@ + + + + + + @@ -291291,6 +334511,12 @@ + + + + + + @@ -291320,6 +334546,12 @@ + + + + + + @@ -291340,6 +334572,12 @@ + + + + + + @@ -291385,6 +334623,7 @@ cilia- and flagella-associated protein 74 kiaa1751 CFAP74 + @@ -291403,6 +334642,12 @@ + + + + + + @@ -291443,6 +334688,12 @@ + + + + + + @@ -291482,6 +334733,12 @@ + + + + + + @@ -291499,6 +334756,12 @@ + + + + + + @@ -291516,6 +334779,12 @@ + + + + + + @@ -291532,6 +334801,12 @@ + + + + + + @@ -291549,6 +334824,12 @@ + + + + + + @@ -291567,6 +334848,12 @@ + + + + + + @@ -291585,6 +334872,12 @@ + + + + + + @@ -291669,6 +334962,7 @@ hect domain e3 ubiquitin protein ligase 4 hect domain-containing e3 ubiquitin protein ligase 4 HECTD4 + @@ -291676,6 +334970,12 @@ + + + + + + @@ -291693,6 +334993,12 @@ + + + + + + @@ -291725,6 +335031,7 @@ kiaa1024-like membrane integral notch2-associated receptor 2 MINAR2 + @@ -291765,6 +335072,12 @@ + + + + + + @@ -291792,6 +335105,12 @@ + + + + + + @@ -291808,6 +335127,12 @@ + + + + + + @@ -291825,6 +335150,12 @@ + + + + + + @@ -291841,6 +335172,12 @@ + + + + + + @@ -291880,6 +335217,12 @@ + + + + + + @@ -291896,6 +335239,12 @@ + + + + + + @@ -291913,6 +335262,12 @@ + + + + + + @@ -291929,6 +335284,12 @@ + + + + + + @@ -291946,6 +335307,12 @@ + + + + + + @@ -291976,6 +335343,12 @@ + + + + + + @@ -292008,6 +335381,12 @@ + + + + + + @@ -292036,6 +335415,12 @@ + + + + + + @@ -292075,6 +335460,12 @@ + + + + + + @@ -292092,6 +335483,12 @@ + + + + + + @@ -292109,6 +335506,12 @@ + + + + + + @@ -292126,6 +335529,12 @@ + + + + + + @@ -292144,6 +335553,12 @@ + + + + + + @@ -292188,6 +335603,7 @@ oda16, chlamydomonas, homolog of wd repeat-containing protein 69 DAW1 + @@ -292196,6 +335612,12 @@ + + + + + + @@ -292213,6 +335635,12 @@ + + + + + + @@ -292230,6 +335658,12 @@ + + + + + + @@ -292247,6 +335681,12 @@ + + + + + + @@ -292264,6 +335704,12 @@ + + + + + + @@ -292291,6 +335737,12 @@ + + + + + + @@ -292308,6 +335760,12 @@ + + + + + + @@ -292324,6 +335782,12 @@ + + + + + + @@ -292340,6 +335804,12 @@ + + + + + + @@ -292357,6 +335827,12 @@ + + + + + + @@ -292396,6 +335872,12 @@ + + + + + + @@ -292413,6 +335895,12 @@ + + + + + + @@ -292441,6 +335929,12 @@ + + + + + + @@ -292458,6 +335952,12 @@ + + + + + + @@ -292475,6 +335975,12 @@ + + + + + + @@ -292492,6 +335998,12 @@ + + + + + + @@ -292510,6 +336022,12 @@ + + + + + + @@ -292537,6 +336055,12 @@ + + + + + + @@ -292565,6 +336089,12 @@ + + + + + + @@ -292582,6 +336112,12 @@ + + + + + + @@ -292610,6 +336146,12 @@ + + + + + + @@ -292626,6 +336168,12 @@ + + + + + + @@ -292643,6 +336191,12 @@ + + + + + + @@ -292660,6 +336214,12 @@ + + + + + + @@ -292678,6 +336238,12 @@ + + + + + + @@ -292695,6 +336261,12 @@ + + + + + + @@ -292735,6 +336307,12 @@ + + + + + + @@ -292775,6 +336353,12 @@ + + + + + + @@ -292792,6 +336376,12 @@ + + + + + + @@ -292809,6 +336399,12 @@ + + + + + + @@ -292826,6 +336422,12 @@ + + + + + + @@ -292854,6 +336456,12 @@ + + + + + + @@ -292881,6 +336489,12 @@ + + + + + + @@ -292898,6 +336512,12 @@ + + + + + + @@ -292948,6 +336568,12 @@ + + + + + + @@ -292964,6 +336590,12 @@ + + + + + + @@ -292991,6 +336623,12 @@ + + + + + + @@ -293019,6 +336657,12 @@ + + + + + + @@ -293051,6 +336695,7 @@ ARMC12 armadillo repeat-containing protein 12 ARMC12 + @@ -293076,6 +336721,12 @@ + + + + + + @@ -293107,6 +336758,7 @@ CFAP61 cilia- and flagella-associated protein 61 CFAP61 + @@ -293115,6 +336767,12 @@ + + + + + + @@ -293164,6 +336822,12 @@ + + + + + + @@ -293181,6 +336845,12 @@ + + + + + + @@ -293221,6 +336891,12 @@ + + + + + + @@ -293262,6 +336938,12 @@ + + + + + + @@ -293300,6 +336982,12 @@ + + + + + + @@ -293317,6 +337005,12 @@ + + + + + + @@ -293345,6 +337039,12 @@ + + + + + + @@ -293361,6 +337061,12 @@ + + + + + + @@ -293378,6 +337084,12 @@ + + + + + + @@ -293396,6 +337108,12 @@ + + + + + + @@ -293413,6 +337131,12 @@ + + + + + + @@ -293452,6 +337176,12 @@ + + + + + + @@ -293468,6 +337198,12 @@ + + + + + + @@ -293485,6 +337221,12 @@ + + + + + + @@ -293502,6 +337244,12 @@ + + + + + + @@ -293519,6 +337267,12 @@ + + + + + + @@ -293536,6 +337290,12 @@ + + + + + + @@ -293555,6 +337315,12 @@ + + + + + + @@ -293594,6 +337360,12 @@ + + + + + + @@ -293611,6 +337383,12 @@ + + + + + + @@ -293639,6 +337417,12 @@ + + + + + + @@ -293667,6 +337451,12 @@ + + + + + + @@ -293695,6 +337485,12 @@ + + + + + + @@ -293713,6 +337509,12 @@ + + + + + + @@ -293730,6 +337532,12 @@ + + + + + + @@ -293746,6 +337554,12 @@ + + + + + + @@ -293820,6 +337634,12 @@ + + + + + + @@ -293860,6 +337680,12 @@ + + + + + + @@ -293876,6 +337702,12 @@ + + + + + + @@ -293893,6 +337725,12 @@ + + + + + + @@ -293924,6 +337762,7 @@ SAMD7 sterile alpha motif domain-containing protein 7 SAMD7 + @@ -293931,6 +337770,12 @@ + + + + + + @@ -293948,6 +337793,12 @@ + + + + + + @@ -293965,6 +337816,12 @@ + + + + + + @@ -293982,6 +337839,12 @@ + + + + + + @@ -293999,6 +337862,12 @@ + + + + + + @@ -294026,6 +337895,12 @@ + + + + + + @@ -294053,6 +337928,12 @@ + + + + + + @@ -294080,6 +337961,12 @@ + + + + + + @@ -294097,6 +337984,12 @@ + + + + + + @@ -294113,6 +338006,12 @@ + + + + + + @@ -294141,6 +338040,12 @@ + + + + + + @@ -294158,6 +338063,12 @@ + + + + + + @@ -294174,6 +338085,12 @@ + + + + + + @@ -294201,6 +338118,12 @@ + + + + + + @@ -294217,6 +338140,7 @@ + SPG91 spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia @@ -294251,6 +338175,12 @@ + + + + + + @@ -294268,6 +338198,12 @@ + + + + + + @@ -294308,6 +338244,12 @@ + + + + + + @@ -294325,6 +338267,12 @@ + + + + + + @@ -294352,6 +338300,12 @@ + + + + + + @@ -294369,6 +338323,12 @@ + + + + + + @@ -294397,6 +338357,12 @@ + + + + + + @@ -294415,6 +338381,12 @@ + + + + + + @@ -294432,6 +338404,12 @@ + + + + + + @@ -294449,6 +338427,12 @@ + + + + + + @@ -294466,6 +338450,12 @@ + + + + + + @@ -294515,6 +338505,12 @@ + + + + + + @@ -294532,6 +338528,12 @@ + + + + + + @@ -294560,6 +338562,12 @@ + + + + + + @@ -294577,6 +338585,12 @@ + + + + + + @@ -294604,6 +338618,12 @@ + + + + + + @@ -294620,6 +338640,12 @@ + + + + + + @@ -294637,6 +338663,12 @@ + + + + + + @@ -294654,6 +338686,12 @@ + + + + + + @@ -294671,6 +338709,12 @@ + + + + + + @@ -294687,6 +338731,12 @@ + + + + + + @@ -294704,6 +338754,12 @@ + + + + + + @@ -294721,6 +338777,12 @@ + + + + + + @@ -294737,6 +338799,12 @@ + + + + + + @@ -294769,6 +338837,12 @@ + + + + + + @@ -294884,6 +338958,12 @@ + + + + + + @@ -294913,6 +338993,12 @@ + + + + + + @@ -294931,6 +339017,12 @@ + + + + + + @@ -294970,6 +339062,12 @@ + + + + + + @@ -294997,6 +339095,12 @@ + + + + + + @@ -295014,6 +339118,12 @@ + + + + + + @@ -295031,6 +339141,12 @@ + + + + + + @@ -295047,6 +339163,12 @@ + + + + + + @@ -295074,6 +339196,12 @@ + + + + + + @@ -295116,6 +339244,7 @@ LRRC23 leucine-rich repeat-containing protein 23 LRRC23 + @@ -295144,6 +339273,12 @@ + + + + + + @@ -295160,6 +339295,12 @@ + + + + + + @@ -295177,6 +339318,12 @@ + + + + + + @@ -295261,6 +339408,12 @@ + + + + + + @@ -295277,6 +339430,12 @@ + + + + + + @@ -295294,6 +339453,12 @@ + + + + + + @@ -295310,6 +339475,12 @@ + + + + + + @@ -295368,6 +339539,12 @@ + + + + + + @@ -295385,6 +339562,12 @@ + + + + + + @@ -295401,6 +339584,12 @@ + + + + + + @@ -295417,6 +339606,12 @@ + + + + + + @@ -295466,6 +339661,12 @@ + + + + + + @@ -295494,6 +339695,12 @@ + + + + + + @@ -295521,6 +339728,12 @@ + + + + + + @@ -295548,6 +339761,12 @@ + + + + + + @@ -295577,6 +339796,12 @@ + + + + + + @@ -295594,6 +339819,12 @@ + + + + + + @@ -295652,6 +339883,12 @@ + + + + + + @@ -295668,6 +339905,12 @@ + + + + + + @@ -295684,6 +339927,12 @@ + + + + + + @@ -295700,6 +339949,12 @@ + + + + + + @@ -295728,6 +339983,12 @@ + + + + + + @@ -295745,6 +340006,12 @@ + + + + + + @@ -295761,6 +340028,12 @@ + + + + + + @@ -295781,28 +340054,18 @@ - + - PRAAS6 - proteasome-associated autoinflammatory syndrome 6 - proteasome-associated autoinflammatory syndrome 6 - - - - - - - - + - GK5 - glycerol kinase 5 - GK5 + PRAAS6 + proteasome-associated autoinflammatory syndrome 6 + proteasome-associated autoinflammatory syndrome 6 @@ -295833,6 +340096,12 @@ + + + + + + @@ -295850,6 +340119,12 @@ + + + + + + @@ -295867,6 +340142,12 @@ + + + + + + @@ -295897,6 +340178,12 @@ + + + + + + @@ -295937,6 +340224,12 @@ + + + + + + @@ -295969,6 +340262,7 @@ RNU4-2 rna, u4 small nuclear 2 RNU4-2 + @@ -295977,6 +340271,12 @@ + + + + + + @@ -295993,6 +340293,12 @@ + + + + + + @@ -296021,6 +340327,12 @@ + + + + + + @@ -296038,6 +340350,12 @@ + + + + + + @@ -296055,6 +340373,12 @@ + + + + + + @@ -296072,6 +340396,12 @@ + + + + + + @@ -296089,6 +340419,12 @@ + + + + + + @@ -296105,15 +340441,22 @@ + + + + + + - NEDHAFA + RENU neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language - neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language + renu syndrome + renu syndrome @@ -296121,6 +340464,12 @@ + + + + + + @@ -296161,6 +340510,12 @@ + + + + + + @@ -296174,10 +340529,41 @@ + + + + + + + + + + + + + + + + FICD + fic domain-containing protein adenylyltransferase + filamentation-induced by camp domain-containing protein + huntingtin yeast-interacting protein e + FICD + + + + + + + + + + + @@ -296212,9 +340598,37 @@ + + + + + + + + + + + + + + + + NEDFET1 + neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1 + neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1 + + + + + + + + + + @@ -296231,6 +340645,12 @@ + + + + + + @@ -296269,6 +340689,19 @@ + + + + + + + + + + + + + IMD123 immunodeficiency 123 with hpv-related verrucosis immunodeficiency 123 with hpv-related verrucosis @@ -296300,6 +340733,12 @@ + + + + + + @@ -296313,6 +340752,98 @@ + + + + + + + + + + + + + + + + + SPG92 + spastic paraplegia 92, autosomal recessive + spastic paraplegia 92, autosomal recessive + + + + + + + + + + + + + + + + + + + + + SPGF95 + spermatogenic failure 95 + spermatogenic failure 95 + + + + + + + + + + + + + + + + + + + + + PARK26 + parkinson disease 26, autosomal dominant, susceptibility to + parkinson disease 26, autosomal dominant, susceptibility to + + + + + + + + + + + + + + + + + + + + + IMD125 + immunodeficiency 125 + immunodeficiency 125 + + + + @@ -301233,15 +345764,6 @@ - - - - Neonatal inflammatory skin and bowel disease - Neonatal inflammatory skin and bowel disease - - - - @@ -307881,6 +352403,32 @@ + + + + + + + + + + + + + + + + + + + + + + + + + +