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- Babf92a99a485890148a566fcf88d7186 hasDbXref "OMIM:619705" @default.
- Babf92a99a485890148a566fcf88d7186 hasDbXref "https://orcid.org/0000-0002-7371-8158" @default.
- Babf92a99a485890148a566fcf88d7186 hasDbXref "https://orcid.org/0000-0003-0113-912X" @default.
- Babf92a99a485890148a566fcf88d7186 type Axiom @default.
- Babf92a99a485890148a566fcf88d7186 annotatedProperty IAO_0000115 @default.
- Babf92a99a485890148a566fcf88d7186 annotatedSource MONDO_0030528 @default.
- Babf92a99a485890148a566fcf88d7186 annotatedTarget "An autosomal recessive disorder characterized by onset of recurrent viral and bacterial infections, particularly with encapsulated bacteria, and hypertrophic cardiomyopathy in the first months or years of life. Immunologic workup typically shows decreased circulating B cells and hypo- or agammaglobulinemia, sometimes with neutropenia or T-cell lymphocytosis, although laboratory findings may be variable among patients. Ig replacement therapy is beneficial. Cardiac involvement can also include atrial septal defect, valvular insufficiency, and pre-excitation syndrome. Rare myopathic or neurologic involvement has been reported, but these features are not consistently part of the disorder and may be related to other genetic defects." @default.