retinitis pigmentosa 17 Disease Ontology Browser

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Disease Ontology Browser

retinitis pigmentosa 17 (DOID:0110404)
Alliance: disease page
Synonyms: RP17
Alt IDs: OMIM:600852, ICD10CM:H35.5, MESH:C563437
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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