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DO Term : Bietti crystalline corneoretinal dystrophy [DOID:0050664] Disease Ontology

Namespace  disease_ontology Obsolete  false
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.
  • synonyms:
  • OMIM:210370,
  • 210370,
  • GARD:10050,
  • Bietti's crystalline dystrophy
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