Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B76c5befb72d66cc3180423d48b51256a> ?p ?o ?g. }
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- B76c5befb72d66cc3180423d48b51256a hasDbXref "OMIM:619774" @default.
- B76c5befb72d66cc3180423d48b51256a hasDbXref "https://orcid.org/0000-0002-7371-8158" @default.
- B76c5befb72d66cc3180423d48b51256a hasDbXref "https://orcid.org/0000-0003-0113-912X" @default.
- B76c5befb72d66cc3180423d48b51256a type Axiom @default.
- B76c5befb72d66cc3180423d48b51256a annotatedProperty IAO_0000115 @default.
- B76c5befb72d66cc3180423d48b51256a annotatedSource MONDO_0030693 @default.
- B76c5befb72d66cc3180423d48b51256a 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.