Bietti Crystalline Corneoretinal Dystrophy
Disease ID: disease_node_16579
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| Dbxref | GARD:10050, MIM:210370 |
|---|---|
| Subclassof | DOID_8466 |
| Data Source | DOID |
| Synonyms | Bietti's crystalline dystrophy |
| Doid Label | Bietti crystalline corneoretinal dystrophy |
| Doid Description | 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. OMIM mapping confirmed by DO. [SN]. |
| Disease Node Id | disease_node_16579 |
| Doid Id | DOID_0050664 |
| Label | Bietti Crystalline Corneoretinal Dystrophy |
- Outgoing r'ship
SUBCLASS_OFto/from Retinal Degeneration(ID:disease_node_6602) (Disease)