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- Be0a3f94a1ebca91bac33d5abebd58222 hasDbXref "Orphanet:319543" @default.
- Be0a3f94a1ebca91bac33d5abebd58222 type Axiom @default.
- Be0a3f94a1ebca91bac33d5abebd58222 annotatedProperty IAO_0000115 @default.
- Be0a3f94a1ebca91bac33d5abebd58222 annotatedSource MONDO_0017899 @default.
- Be0a3f94a1ebca91bac33d5abebd58222 annotatedTarget "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.