Elliptocytosis 1

Definition

Any hereditary elliptocytosis in which the cause of the disease is a mutation in the EPB41 gene.

Also known as elliptocytosis 1, elliptocytosis type 1, elliptocytosis-1, EPB41 hereditary elliptocytosis, hereditary elliptocytosis caused by mutation in EPB41 — per MONDO

Also identified as

• MESH C567520 per MONDO
• OMIM 611804 per MONDO
• UMLS C2678497 per MONDO