|OBO ID: DOID:0050664|
|Term Name:||Bietti crystalline corneoretinal dystrophy||Search Ontology:|
|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. https://rarediseases.info.nih.gov/diseases/10050/bietti-crystalline-corneoretinal-dystrophy|
|Ontology:||Human Disease (DOID:0050664)|
|is a type of:||
OTHER Bietti crystalline corneoretinal dystrophy PAGES
PHENOTYPE No data available
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