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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:autosomal dominant vitreoretinochoroidopathy
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Accession:DOID:0111569 term browser browse the term
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 BEST1 on chromosome 11q12.3. (DO)
Synonyms:exact_synonym: ADVIRC;   VRCP;   VRCP autosomal dominant;   Vitreoretinochoroidopathy;   Vitreoretinochoroidopathy dominant;   Vitreoretinochoroidopathy, Autosomal Dominant, With Nanophthalmos;   vitreoretinochoroidopathy with microcornea, glaucoma, and cataract
 narrow_synonym: MRCS2;   microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2
 broad_synonym: MRCS;   microcornea, rod-cone dystrophy, cataract, and posterior staphyloma
 primary_id: MESH:C536352
 alt_id: OMIM:193220
 xref: GARD:5507;   ORDO:3086
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal dominant vitreoretinochoroidopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Best1 bestrophin 1 ISO ClinVar Annotator: match by OMIM:193220
ClinVar Annotator: match by synonym: Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma
ClinVar Annotator: match by term: Vitreoretinochoroidopathy
OMIM
ClinVar
PMID:10453731 PMID:10798642 PMID:10854112 PMID:11585313 PMID:11713080 PMID:12543751 PMID:13534955 PMID:14615048 PMID:15452077 PMID:16754206 PMID:17110374 PMID:17898294 PMID:18179881 PMID:18611979 PMID:21192766 PMID:21273940 PMID:21330666 PMID:21809908 PMID:21825197 PMID:22162627 PMID:22183385 PMID:22422030 PMID:23290749 PMID:24033266 PMID:25741868 PMID:26200502 PMID:26333019 PMID:27519691 PMID:28492532 PMID:28687848 PMID:30718709 PMID:33546218 NCBI chr 1:226,033,146...226,049,893
Ensembl chr 1:226,030,875...226,049,929
JBrowse link
G Fth1 ferritin heavy chain 1 ISO ClinVar Annotator: match by term: Vitreoretinochoroidopathy ClinVar PMID:10453731 PMID:11713080 PMID:14615048 PMID:17898294 PMID:25741868 PMID:28492532 PMID:28687848 NCBI chr 1:226,030,940...226,033,228
Ensembl chr 1:226,030,938...226,033,228
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    sensory system disease 5332
      eye disease 2643
        fundus dystrophy 344
          hereditary retinal dystrophy 4
            autosomal dominant vitreoretinochoroidopathy 2
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        sensory system disease 5332
          eye disease 2643
            retinal disease 805
              retinal degeneration 478
                fundus dystrophy 344
                  hereditary retinal dystrophy 4
                    autosomal dominant vitreoretinochoroidopathy 2
paths to the root