Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Ba0f3394b8faf7b82f75e5efedf06ff5d> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- Ba0f3394b8faf7b82f75e5efedf06ff5d hasDbXref "Orphanet:572" @default.
- Ba0f3394b8faf7b82f75e5efedf06ff5d type Axiom @default.
- Ba0f3394b8faf7b82f75e5efedf06ff5d annotatedProperty IAO_0000115 @default.
- Ba0f3394b8faf7b82f75e5efedf06ff5d annotatedSource MONDO_0008855 @default.
- Ba0f3394b8faf7b82f75e5efedf06ff5d annotatedTarget "Immunodeficiency by defective expression of HLA class 2 is a rare primary genetic immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class 2 expression resulting in severe defect in both cellular and humoral immune response to antigens. The disorder presents clinically as marked susceptibility to infections, severe malabsorption and failure to thrive and is often fatal in early childhood." @default.