Cone-rod dystrophy 5

Definition

Any cone-rod dystrophy in which the cause of the disease is a mutation in the PITPNM3 gene.

Also known as cone-rod dystrophy 5, cone-rod dystrophy caused by mutation in PITPNM3, cone-rod dystrophy type 5, CORD5, PITPNM3 cone-rod dystrophy — per MONDO

Also identified as

• DOID 0111010 per MONDO
• MESH C563415 per MONDO
• OMIM 600977 per MONDO
• UMLS C1832976 per MONDO