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Summary Literature (0)
DOID:0110404 - retinitis pigmentosa 17

Disease Ontology 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.

Synonyms: RP17

Xenbase Genes : ca4, ca4.2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010945 - retinitis pigmentosa 17

MIM:
MIM:600852 - RETINITIS PIGMENTOSA 17; RP17

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), retinitis pigmentosa (is_a)