Retinitis pigmentosa 17

Definition

Any retinitis pigmentosa caused by duplication or triplication in the chromosome 17q22-q23 region that results in disruption of topologically associated domains (TADs) and increased retinal expression of GDPD1.

Also known as CA4 retinitis pigmentosa, retinitis pigmentosa 17, retinitis pigmentosa caused by mutation in CA4, retinitis pigmentosa type 17, RP17 — per MONDO

Also identified as

• DOID 0110404 per MONDO
• MESH C563437 per MONDO
• OMIM 600852 per MONDO
• UMLS C1833245 per MONDO