Term Name: | retinitis pigmentosa 87 |
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Synonyms: | retinitis pigmentosa 87 with choroidal involvement, RP87 |
Definition: | A retinitis pigmentosa characterized by slowly progressive visual disturbance and extensive choroid/retinal atrophy that has_material_basis_in heterozygous mutation in the RPE65 gene on chromosome 1p31.3. |
Ontology: | Human Disease [DOID:0112144] ( DOID:0112144 ) |