Term Name: retinitis pigmentosa 17
Synonyms: RP17
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.
Ontology: Human Disease [DOID:0110404]   ( DOID:0110404 )

Relationships
is a type of: autosomal dominant disease retinitis pigmentosa