| Yes |
| obsolete 17-hydroxysteroid dehydrogenase deficiency |
| MONDO:0000004 | DOID:10493, EFO:0009491, ICD9:255.4, ICD9:255.41, MEDGEN:589758, MESH:D000309, NCIT:C26691, SCTID:386584007, UMLS:C0405580, icd11.foundation:733056203 | An endocrine or hormonal disorder that occurs when the adrenal cortex does not produce enough of the hormone cortisol and in some cases, the hormone aldosterone. It may be due to a disorder of the adr... | http://id.who.int/icd/entity/733056203, http://identifiers.org/medgen/589758, http://identifiers.org/mesh/D000309, http://identifiers.org/snomedct/386584007, http://linkedlifedata.com/resource/umls/id/C0405580, http://purl.obolibrary.org/obo/DOID_10493, http://purl.obolibrary.org/obo/NCIT_C26691, http://www.ebi.ac.uk/efo/EFO_0009491 | No | adrenocortical insufficiency | MONDO:0002816 |
| MONDO:0000005 | OMIMPS:203655 | https://omim.org/phenotypicSeries/PS203655 | No | alopecia, isolated | MONDO:0004907, MONDO:0100118 |
| MONDO:0000006 | Yes | obsolete alopecia-mental retardation syndrome |
| MONDO:0000007 | OMIM 209950 lists 300636 and 300645 as other types of this disease. | Yes | obsolete atypical Mycobacteriosis, familial |
| MONDO:0000008 | Yes | obsolete bare lymphocyte syndrome |
| MONDO:0000009 | DOID:2218, MEDGEN:610, OMIMPS:231200, UMLS:C0005818 | http://identifiers.org/medgen/610, http://linkedlifedata.com/resource/umls/id/C0005818, http://purl.obolibrary.org/obo/DOID_2218, https://omim.org/phenotypicSeries/PS231200 | No | inherited bleeding disorder, platelet-type | MONDO:0002243, MONDO:0002245, MONDO:0003847 |
| MONDO:0000010 | Yes | obsolete cerebrooculofacioskeletal syndrome |
| MONDO:0000011 | Yes | obsolete chondrodysplasia |
| MONDO:0000012 | Yes | obsolete choreoathetosis |
| MONDO:0000013 | Yes | obsolete choroidal dystrophy |
| MONDO:0000014 | Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: - | No | colorblindness, partial | MONDO:0001703 |
| MONDO:0000015 | GARD:9526, ICD9:279.8, MEDGEN:226929, PMID:22773339, SCTID:363009005, UMLS:C1285186, https://orcid.org/0000-0001-5208-3432 | A genetic deficiency of any early component of the classical pathway (C1q, C1r/s, C2, C4, and C3) that is associated with autoimmune diseases due to the failure of clearance of immune complexes (IC) a... | http://identifiers.org/medgen/226929, http://identifiers.org/snomedct/363009005, http://linkedlifedata.com/resource/umls/id/C1285186 | No | classic complement early component deficiency | MONDO:0003832 |
| MONDO:0000016 | Yes | obsolete coronary heart disease |
| MONDO:0000017 | Yes | obsolete deafness, autosomal recessive |
| MONDO:0000018 | Yes | obsolete myotonic dystrophy |
| MONDO:0000019 | Yes | obsolete ectodermal dysplasia |
| MONDO:0000020 | Yes | obsolete elliptocytosis |
| MONDO:0000021 | Yes | obsolete short-rib thoracic dysplasia |
| MONDO:0000022 | See genetic heterogeneity of OMIM 600631. | MEDGEN:124355, MESH:D053206, NCIT:C118172, UMLS:C0270327, icd11.foundation:1048673005 | Urination during sleep. | http://id.who.int/icd/entity/1048673005, http://identifiers.org/medgen/124355, http://identifiers.org/mesh/D053206, http://linkedlifedata.com/resource/umls/id/C0270327, http://purl.obolibrary.org/obo/NCIT_C118172 | No | nocturnal enuresis | MONDO:0024290 |
| MONDO:0000023 | OMIM series 615438. Plus one non-syndrome. OMIM series covers only syndromes but I left off "syndrome" from the series name (smb). | DOID:0080716, GARD:17820, MEDGEN:1813021, OMIMPS:615438, Orphanet:464724, UMLS:C5681094 | http://identifiers.org/medgen/1813021, http://linkedlifedata.com/resource/umls/id/C5681094, http://purl.obolibrary.org/obo/DOID_0080716, http://www.orpha.net/ORDO/Orphanet_464724, https://omim.org/phenotypicSeries/PS615438 | No | infantile liver failure | MONDO:0003847, MONDO:0100192 |
| MONDO:0000024 | Yes | obsolete exostoses, multiple |
| MONDO:0000025 | Yes | obsolete familial cold autoinflammatory syndrome |
Mondo ID | Alternative IDs | Close Match URIs | Comments | Cross-Reference IDs | Definition | Exact Match URIs | Is Obsolete | Label | Parent IDs | See Also | Subsets | Synonyms | URI |
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