FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term autosomal dominant vitreoretinochoroidopathy ID (Ontology) DOID:0111569 (Human Disease)
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.
Also Known As "ADVIRC" ; "vitreoretinochoroidopathy dominant" ; "vitreoretinochoroidopathy with microcornea, glaucoma, and cataract" (for all, see Synonyms field below)
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 Genes
 autosomal dominant vitreoretinochoroidopathy       4
 for disease ribbon | autosomal dominant vitreoretinochoroidopathy       4
 model of | autosomal dominant vitreoretinochoroidopathy       4
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease____
fundus dystrophy                  |
 |__hereditary retinal dystrophy__|
                                  autosomal dominant vitreoretinochoroidopathy  4 rec.
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Is a autosomal dominant disease
hereditary retinal dystrophy
Part of
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Synonyms
  • "ADVIRC" EXACT OMO:0003012
    "vitreoretinochoroidopathy dominant" EXACT
    "vitreoretinochoroidopathy with microcornea, glaucoma, and cataract" EXACT
    "vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos" EXACT
    "VRCP autosomal dominant" EXACT
Secondary IDs
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GARD:5507
MESH:C536352
MIM:193220
ORDO:3086
SNOMEDCT_US_2023_03_01:711162004
UMLS_CUI:C3888099