| Metadata | |
|---|---|
| ID | DOID:0050664 |
| Name | Bietti crystalline corneoretinal 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. https://rarediseases.info.nih.gov/diseases/10050/bietti-crystalline-corneoretinal-dystrophy |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Bietti's crystalline dystrophy [EXACT] |
| Parent Relationships |
is_a retinal degeneration |