Term Name: retinitis pigmentosa 87
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 )

Relationships
is a type of: autosomal dominant disease retinitis pigmentosa