Term Name: | retinitis pigmentosa 17 |
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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 ) |