Retinitis pigmentosa 46

Definition

Any retinitis pigmentosa in which the cause of the disease is a mutation in the IDH3B gene.

Also known as IDH3B retinitis pigmentosa, retinitis pigmentosa 46, retinitis pigmentosa caused by mutation in IDH3B, retinitis pigmentosa type 46, RP46 — per MONDO

Also identified as

• DOID 0110409 per MONDO
• MESH C567249 per MONDO
• OMIM 612572 per MONDO
• UMLS C2675496 per MONDO