Search Ontology:
Human Disease

Bietti crystalline corneoretinal dystrophy

Term ID
DOID:0050664
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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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