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Human Disease

autosomal dominant vitreoretinochoroidopathy

Term ID
DOID:0111569
Synonyms
  • ADVIRC
  • vitreoretinochoroidopathy dominant
  • vitreoretinochoroidopathy with microcornea, glaucoma, and cataract
  • vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos
  • VRCP autosomal dominant
Definition
A hereditary retinal dystrophy characterized by abnormal chorioretinal hypopigmentation and hyperpigmentation typically lying between the vortex veins and the ora serrata for 360 degrees and other ocular developmental anomalies that has_material_basis_in heterozygous mutation in the BEST1 gene on chromosome 11q12.3. (2)
References
Ontology
Human Disease   ( DOID:0111569 )
Relationships
is a type of
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Genes Involved
Zebrafish Models