agammaglobulinemia 7, autosomal recessive
Go to external page http://purl.obolibrary.org/obo/MONDO_0014083
Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the PIK3R1 gene. [ MONDO:patterns/disease_series_by_gene ]
Synonyms: agammaglobulinemia 7, autosomal recessive autosomal agammaglobulinemia caused by mutation in PIK3R1 PIK3R1 autosomal agammaglobulinemia
Term information
- GARD:15918 (MONDO:GARD)
- DOID:0081139 (MONDO:equivalentTo)
- UMLS:C3554689 (MONDO:equivalentTo)
- OMIM:615214 (MONDO:equivalentTo)
- MEDGEN:767603 (MONDO:equivalentTo)
gard_rare, rare, nord_rare, clingen
https://omim.org/entry/615214
http://linkedlifedata.com/resource/umls/id/C3554689
http://purl.obolibrary.org/obo/DOID_0081139
http://identifiers.org/medgen/767603