Bietti crystalline corneoretinal dystrophy
Information
- Disease name
- Bietti crystalline corneoretinal dystrophy
- Disease ID
- DOID:0050664
- 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." [url:https\://rarediseases.info.nih.gov/diseases/10050/bietti-crystalline-corneoretinal-dystrophy]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:8466
- Cross Reference ID (Disease Ontology)
- GARD:10050
- Cross Reference ID (Disease Ontology)
- MIM:210370
- Exact Synonym (Disease Ontology)
- Bietti's crystalline dystrophy