Hereditary spherocytosis type 3

Definition

Any hereditary spherocytosis in which the cause of the disease is a mutation in the SPTA1 gene.

Also known as hereditary spherocytosis caused by mutation in SPTA1, HS3, SPH3, SPTA1 hereditary spherocytosis — per MONDO

Also identified as

• DOID 0110918 per MONDO
• MESH C567489 per MONDO
• OMIM 270970 per MONDO
• UMLS C2678338 per MONDO