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- B80d698e70a567c7b99778cef3d5d2720 hasDbXref "OMIM:619573" @default.
- B80d698e70a567c7b99778cef3d5d2720 hasDbXref "https://orcid.org/0000-0002-7371-8158" @default.
- B80d698e70a567c7b99778cef3d5d2720 hasDbXref "https://orcid.org/0000-0003-0113-912X" @default.
- B80d698e70a567c7b99778cef3d5d2720 type Axiom @default.
- B80d698e70a567c7b99778cef3d5d2720 annotatedProperty IAO_0000115 @default.
- B80d698e70a567c7b99778cef3d5d2720 annotatedSource MONDO_0030457 @default.
- B80d698e70a567c7b99778cef3d5d2720 annotatedTarget "An autosomal recessive immunologic disorder with wide phenotypic variation and severity. Affected individuals usually present in infancy or early childhood with increased susceptibility to infections, often Epstein-Barr virus (EBV), as well as with lymphadenopathy or autoimmune manifestations, predominantly hemolytic anemia. Laboratory studies may show low or normal lymphocyte numbers, often with skewed T-cell subset ratios. The disorder results primarily from defects in T-cell function, which causes both immunodeficiency and overall immune dysregulation." @default.