Agammaglobulinemia 7, autosomal recessive

Definition

Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the PIK3R1 gene.

Also known as agammaglobulinemia 7, autosomal recessive, autosomal agammaglobulinemia caused by mutation in PIK3R1, PIK3R1 autosomal agammaglobulinemia — per MONDO

Also identified as

• DOID 0081139 per MONDO
• OMIM 615214 per MONDO
• UMLS C3554689 per MONDO