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DO Term : autosomal dominant vitreoretinochoroidopathy [DOID:0111569] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • 193220,
  • SNOMEDCT_US_2023_03_01:711162004,
  • vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos,
  • vitreoretinochoroidopathy dominant,
  • MESH:C536352,
  • GARD:5507,
  • UMLS_CUI:C3888099,
  • vitreoretinochoroidopathy with microcornea, glaucoma, and cataract,
  • OMIM:193220,
  • ADVIRC,
  • ORDO:3086,
  • VRCP autosomal dominant
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