Retinitis pigmentosa 45

Definition

Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGB1 gene.

Also known as CNGB1 retinitis pigmentosa, retinitis pigmentosa 45, retinitis pigmentosa caused by mutation in CNGB1, retinitis pigmentosa type 45, RP45 — per MONDO

Also identified as

• DOID 0110402 per MONDO
• OMIM 613767 per MONDO
• UMLS C3151066 per MONDO