Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B4a176df98110a23b6378d04dca9dc5f0> ?p ?o ?g. }
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- B4a176df98110a23b6378d04dca9dc5f0 hasDbXref "OMIM:619846" @default.
- B4a176df98110a23b6378d04dca9dc5f0 hasDbXref "PMID:32484799" @default.
- B4a176df98110a23b6378d04dca9dc5f0 hasDbXref "https://orcid.org/0000-0002-7371-8158" @default.
- B4a176df98110a23b6378d04dca9dc5f0 hasDbXref "https://orcid.org/0000-0003-0113-912X" @default.
- B4a176df98110a23b6378d04dca9dc5f0 type Axiom @default.
- B4a176df98110a23b6378d04dca9dc5f0 annotatedProperty IAO_0000115 @default.
- B4a176df98110a23b6378d04dca9dc5f0 annotatedSource MONDO_0030798 @default.
- B4a176df98110a23b6378d04dca9dc5f0 annotatedTarget "An autosomal recessive immunologic disorder characterized by the onset of recurrent sinopulmonary infections in early childhood. Laboratory studies reveal hypogammaglobulinemia with decreased memory B cells that show impaired class-switch recombination (CSR) and decreased somatic hypermutation (SHM). Due to abnormal antibody production and impaired self-tolerance, patients may develop autoimmune cytopenias, such as thrombocytopenia, or autoimmune features, such as vitiligo. There are also defects in the T-cell compartment." @default.