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- B0235af28e18272f58b831d2c65fdb587 hasDbXref "OMIM:619652" @default.
- B0235af28e18272f58b831d2c65fdb587 hasDbXref "https://orcid.org/0000-0002-7371-8158" @default.
- B0235af28e18272f58b831d2c65fdb587 hasDbXref "https://orcid.org/0000-0003-0113-912X" @default.
- B0235af28e18272f58b831d2c65fdb587 type Axiom @default.
- B0235af28e18272f58b831d2c65fdb587 annotatedProperty IAO_0000115 @default.
- B0235af28e18272f58b831d2c65fdb587 annotatedSource MONDO_0030498 @default.
- B0235af28e18272f58b831d2c65fdb587 annotatedTarget "An autosomal recessive primary immunodeficiency characterized by the onset of recurrent infections in infancy or early childhood. Infectious agents are broad, including bacterial, viral, fungal, and parasitic, including Cryptosporidium and Mycobacteria. Patient lymphocytes show defects in both T- and B-cell proliferation, cytokine secretion, and overall function, and there is also evidence of dysfunction of NK, certain antigen-presenting cells, and myeloid subsets. Hematopoietic stem cell transplantation may be curative." @default.