Hereditary spherocytosis type 2

Definition

Any hereditary spherocytosis in which the cause of the disease is a mutation in the SPTB gene.

Also known as hereditary spherocytosis caused by mutation in SPTB, hereditary spherocytosis type 2, HS2, SPH2, spherocytosis, type 2, SPTB hereditary spherocytosis — per MONDO

Also identified as

• DOID 0110917 per MONDO
• OMIM 616649 per MONDO
• UMLS C2674219 per MONDO