Agammaglobulinemia 5, autosomal dominant

Definition

Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the LRRC8A gene.

Also known as agammaglobulinemia 5, autosomal dominant, autosomal agammaglobulinemia caused by mutation in LRRC8A, LRRC8A autosomal agammaglobulinemia — per MONDO

Also identified as

• DOID 0080588 per MONDO
• OMIM 613506 per MONDO
• UMLS C3150753 per MONDO