Retinitis pigmentosa 49

Definition

Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGA1 gene.

Also known as CNGA1 retinitis pigmentosa, retinitis pigmentosa 49, retinitis pigmentosa caused by mutation in CNGA1, retinitis pigmentosa type 49, RP49 — per MONDO

Also identified as

• DOID 0110377 per MONDO
• OMIM 613756 per MONDO
• UMLS C3151059 per MONDO