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- B2fae7e70fe016722f7fcda473478fe59 hasDbXref "OMIM:619652" @default.
- B2fae7e70fe016722f7fcda473478fe59 hasDbXref "https://orcid.org/0000-0002-7371-8158" @default.
- B2fae7e70fe016722f7fcda473478fe59 hasDbXref "https://orcid.org/0000-0003-0113-912X" @default.
- B2fae7e70fe016722f7fcda473478fe59 type Axiom @default.
- B2fae7e70fe016722f7fcda473478fe59 annotatedProperty IAO_0000115 @default.
- B2fae7e70fe016722f7fcda473478fe59 annotatedSource MONDO_0030498 @default.
- B2fae7e70fe016722f7fcda473478fe59 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.