Retinitis pigmentosa 59

Definition

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

Also known as congenital disorder of glycosylation, type 1bb, DHDDS retinitis pigmentosa, retinitis pigmentosa 59, retinitis pigmentosa caused by mutation in DHDDS, retinitis pigmentosa type 59, RP59 — per MONDO

Also identified as

• DOID 0110352 per MONDO
• OMIM 613861 per MONDO
• UMLS C3151227 per MONDO