FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term retinitis pigmentosa 87 ID (Ontology) DOID:0112144 (Human Disease)
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.
Also Known As "retinitis pigmentosa 87 with choroidal involvement" ; "RP87"
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 Genes
 retinitis pigmentosa 87       1
 for disease ribbon | retinitis pigmentosa 87       1
 model of | retinitis pigmentosa 87       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
retinal degeneration            |
 |__retinitis pigmentosa________|
                                retinitis pigmentosa 87  1 rec.
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Is a autosomal dominant disease
retinitis pigmentosa
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Synonyms
  • "retinitis pigmentosa 87 with choroidal involvement" EXACT
    "RP87" EXACT OMO:0003012
Secondary IDs
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MIM:618697