OBO ID: DOID:0050664 |
Term Name: | Bietti crystalline corneoretinal dystrophy | Search Ontology: | |
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Synonyms: |
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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 | ||
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Ontology: | Human Disease ( DOID:0050664 ) |
OTHER Bietti crystalline corneoretinal dystrophy PAGES
ZEBRAFISH MODELS
Fish | Conditions | Citations |
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cyp4v2ahzu15/hzu15; cyp4v2bhzu14/hzu14 | standard conditions | Gao et al., 2022 |
PHENOTYPE
No data available
CITATIONS (1)
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