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Bietti crystalline corneoretinal dystrophy
Summary
- Synonym
-
- Bietti's crystalline dystrophy
- 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.
- Super Class
- retinal degeneration
External Links
- Disease Ontology
- DOID:0050664
- Mondo Disease Ontology
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O00767 | Stearoyl-CoA desaturase |
