Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B9567e20cf851f12c72a8e229aa14973d> ?p ?o ?g. }
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- B9567e20cf851f12c72a8e229aa14973d hasDbXref "Orphanet:34592" @default.
- B9567e20cf851f12c72a8e229aa14973d type Axiom @default.
- B9567e20cf851f12c72a8e229aa14973d annotatedProperty IAO_0000115 @default.
- B9567e20cf851f12c72a8e229aa14973d annotatedSource MONDO_0011476 @default.
- B9567e20cf851f12c72a8e229aa14973d annotatedTarget "Immunodeficiency by defective expression of HLA class 1 is a very rare, primary, genetic, immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class I expression resulting in a non-specific clinical picture of impaired immune response and susceptibility to infections." @default.