FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Bietti crystalline corneoretinal dystrophy ID (Ontology) DOID:0050664 (Human Disease)
Definition A retinal degeneration that is characterized by crystals in the cornea, shiny deposits on the retina and progressive atrophy of the retina, choriocapillaris and choroid, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CYP4V2 gene on chromosome 4q35.
Also Known As "Bietti's crystalline dystrophy"
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 Genes
 Bietti crystalline corneoretinal dystrophy      27
 for disease ribbon | Bietti crystalline corneoretinal dystrophy      27
 model of | Bietti crystalline corneoretinal dystrophy      27
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retinal disease___________
eye degenerative disease__|
                          retinal degeneration
                           |__Bietti crystalline corneoretinal dystrophy  27 rec.
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Synonyms
  • "Bietti's crystalline dystrophy" EXACT
Secondary IDs
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GARD:10050
MIM:210370