OBO ID: DOID:0050664
Term Name: Bietti crystalline corneoretinal dystrophy Search Ontology:
Synonyms:
  • 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. https://rarediseases.info.nih.gov/diseases/10050/bietti-crystalline-corneoretinal-dystrophy
References:
Ontology: Human Disease   (DOID:0050664)
OTHER Bietti crystalline corneoretinal dystrophy PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CYP4V2 Bietti crystalline corneoretinal dystrophy 210370
PHENOTYPE No data available

CITATIONS (1)