Retinitis pigmentosa 30

Definition

Any retinitis pigmentosa in which the cause of the disease is a mutation in the FSCN2 gene.

Also known as FSCN2 retinitis pigmentosa, retinitis pigmentosa 30, retinitis pigmentosa caused by mutation in FSCN2, retinitis pigmentosa type 30, RP30 — per MONDO

Also identified as

• DOID 0110406 per MONDO
• OMIM 607921 per MONDO
• UMLS C1842816 per MONDO