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Summary Literature (0)
DOID:0050664 - Bietti crystalline corneoretinal dystrophy

Disease Ontology 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.

Synonyms: Bietti's crystalline dystrophy, Bietti's crystalline dystrophy

Xenbase Genes : cyp4v2.2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008865 - Bietti crystalline corneoretinal dystrophy

MIM:
MIM:210370 - BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY; BCD

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): retinal degeneration (is_a)