Matches in Ubergraph for { <http://purl.obolibrary.org/obo/MONDO_0017899> ?p ?o ?g. }
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- MONDO_0017899 IAO_0000115 "OBSOLETE. Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to a partial deficiency describes a group of variants of MSMD due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8)." @default.
- MONDO_0017899 IAO_0000231 OMO_0001000 @default.
- MONDO_0017899 IAO_0000233 "https://github.com/monarch-initiative/mondo/issues/3886" @default.
- MONDO_0017899 normalizedInformationContent "100" @default.
- MONDO_0017899 referenceCount "1" @default.
- MONDO_0017899 consider "MONDO:0020573" @default.
- MONDO_0017899 hasDbXref "GARD:21424" @default.
- MONDO_0017899 hasDbXref "Orphanet:319543" @default.
- MONDO_0017899 hasDbXref "UMLS:CN203955" @default.
- MONDO_0017899 hasExactSynonym "autosomal dominant MSMD due to a partial deficiency" @default.
- MONDO_0017899 hasExactSynonym "mendelian susceptibility to mycobacterial diseases due to a partial deficiency, autosomal dominant" @default.
- MONDO_0017899 id "MONDO:0017899" @default.
- MONDO_0017899 inSubset gard_rare @default.
- MONDO_0017899 inSubset ordo_group_of_disorders @default.
- MONDO_0017899 inSubset rare @default.
- MONDO_0017899 type Class @default.
- MONDO_0017899 comment "Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inherited disease susceptibility'" @default.
- MONDO_0017899 isDefinedBy mondo.owl @default.
- MONDO_0017899 label "obsolete autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency" @default.
- MONDO_0017899 subClassOf MONDO_0017899 @default.
- MONDO_0017899 subClassOf Thing @default.
- MONDO_0017899 deprecated "true" @default.
- MONDO_0017899 exactMatch CN203955 @default.
- MONDO_0017899 exactMatch Orphanet_319543 @default.