Matches in Ubergraph for { <http://purl.obolibrary.org/obo/MONDO_0017897> ?p ?o ?g. }
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- MONDO_0017897 IAO_0000115 "OBSOLETE. Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to a complete deficiency describes a group of genetic variants of MSMD comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency." @default.
- MONDO_0017897 IAO_0000231 OMO_0001000 @default.
- MONDO_0017897 IAO_0000233 "https://github.com/monarch-initiative/mondo/issues/3886" @default.
- MONDO_0017897 normalizedInformationContent "100" @default.
- MONDO_0017897 referenceCount "1" @default.
- MONDO_0017897 consider "MONDO:0020573" @default.
- MONDO_0017897 hasDbXref "GARD:21422" @default.
- MONDO_0017897 hasDbXref "Orphanet:319535" @default.
- MONDO_0017897 hasDbXref "UMLS:CN203953" @default.
- MONDO_0017897 hasExactSynonym "autosomal recessive MSMD due to a complete deficiency" @default.
- MONDO_0017897 hasExactSynonym "mendelian susceptibility to mycobacterial diseases due to a complete deficiency, autosomal recessive" @default.
- MONDO_0017897 id "MONDO:0017897" @default.
- MONDO_0017897 inSubset gard_rare @default.
- MONDO_0017897 inSubset ordo_group_of_disorders @default.
- MONDO_0017897 inSubset rare @default.
- MONDO_0017897 type Class @default.
- MONDO_0017897 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_0017897 isDefinedBy mondo.owl @default.
- MONDO_0017897 label "obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency" @default.
- MONDO_0017897 subClassOf MONDO_0017897 @default.
- MONDO_0017897 subClassOf Thing @default.
- MONDO_0017897 deprecated "true" @default.
- MONDO_0017897 exactMatch CN203953 @default.
- MONDO_0017897 exactMatch Orphanet_319535 @default.