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Metadata
ID	DOID:0110404
Name	retinitis pigmentosa 17
Definition	A retinitis pigmentosa characterized by relatively mild disease, with decreased visual acuity, visual field constriction, nyctalopia, and slow progression that has_material_basis_in duplication or triplication in the chromosome 17q22-q23 region that results in disruption of topologically associated domains (TADs) and increased retinal expression of GDPD1. https://pubmed.ncbi.nlm.nih.gov/33022222/
Xrefs	ICD10CM:H35.5 MESH:C563437 MIM:600852
Synonyms	RP17 [EXACT]
Parent Relationships	is_a retinitis pigmentosa is_a autosomal dominant disease