Hereditary spherocytosis type 4

Definition

Any hereditary spherocytosis in which the cause of the disease is a mutation in the SLC4A1 gene.

Also known as hereditary spherocytosis caused by mutation in SLC4A1, HS4, SLC4A1 hereditary spherocytosis, SPH4 — per MONDO

Also identified as

• DOID 0110919 per MONDO
• MESH C567208 per MONDO
• OMIM 612653 per MONDO
• UMLS C2675212 per MONDO