Retinitis pigmentosa 48

Definition

Any retinitis pigmentosa in which the cause of the disease is a mutation in the GUCA1B gene.

Also known as GUCA1B retinitis pigmentosa, retinitis pigmentosa 48, retinitis pigmentosa caused by mutation in GUCA1B, retinitis pigmentosa type 48, RP48 — per MONDO

Also identified as

• DOID 0110382 per MONDO
• OMIM 613827 per MONDO
• UMLS C3151190 per MONDO