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- B2c9884bf45f9d63e600d1637504a4156 hasDbXref "OMIM:619774" @default.
- B2c9884bf45f9d63e600d1637504a4156 hasDbXref "https://orcid.org/0000-0002-7371-8158" @default.
- B2c9884bf45f9d63e600d1637504a4156 hasDbXref "https://orcid.org/0000-0003-0113-912X" @default.
- B2c9884bf45f9d63e600d1637504a4156 type Axiom @default.
- B2c9884bf45f9d63e600d1637504a4156 annotatedProperty IAO_0000115 @default.
- B2c9884bf45f9d63e600d1637504a4156 annotatedSource MONDO_0030693 @default.
- B2c9884bf45f9d63e600d1637504a4156 annotatedTarget "An autosomal recessive disorder characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood. Other infections, including gastrointestinal and urinary tract infections, may also occur. Laboratory studies show hypogammaglobulinemia, lymphopenia with increased gamma/delta T cells, and erythrocyte macrocytosis. The disorder results from defective cellular DNA repair." @default.