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Metadata
ID DOID:0112144
Name retinitis pigmentosa 87
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.
https://pubmed.ncbi.nlm.nih.gov/27307694/, https://pubmed.ncbi.nlm.nih.gov/30628748/
Xrefs

OMIM:618697

Synonyms

retinitis pigmentosa 87 with choroidal involvement [EXACT]

RP87 [EXACT]

Parent Relationships

is_a retinitis pigmentosa

is_a autosomal dominant disease

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