Newfoundland cone-rod dystrophy

Definition

Any cone-rod dystrophy in which the cause of the disease is a mutation in the RLBP1 gene.

Also known as cone-rod dystrophy caused by mutation in RLBP1, NFRCD, RLBP1 cone-rod dystrophy — per MONDO

Also identified as

• DOID 0111015 per MONDO
• MESH C564391 per MONDO
• OMIM 607476 per MONDO
• UMLS C1843815 per MONDO