Achromatopsia 4

Definition

Any achromatopsia in which the cause of the disease is a mutation in the GNAT2 gene.

Also known as ACHM4, achromatopsia 4, achromatopsia caused by mutation in GNAT2, achromatopsia type 4, GNAT2 achromatopsia — per MONDO

Also identified as

• DOID 0110010 per MONDO
• MESH C564206 per MONDO
• OMIM 613856 per MONDO
• UMLS C1841721 per MONDO