Elliptocytosis 2

Definition

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

Also known as elliptocytosis 2, elliptocytosis type 2, elliptocytosis-2, hereditary elliptocytosis caused by mutation in SPTA1, SPTA1 hereditary elliptocytosis — per MONDO

Also identified as

• MESH C565058 per MONDO
• OMIM 130600 per MONDO
• UMLS C1851741 per MONDO