Hereditary spherocytosis type 5

Definition

Any hereditary spherocytosis in which the cause of the disease is a mutation in the EPB42 gene.

Also known as EPB42 hereditary spherocytosis, hereditary spherocytosis caused by mutation in EPB42, hereditary spherocytosis type 5, HS5, SPH5 — per MONDO

Also identified as

• DOID 0110920 per MONDO
• MESH C567202 per MONDO
• OMIM 612690 per MONDO
• UMLS C2675192 per MONDO