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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:bestrophinopathy
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Accession:DOID:0050662 term browser browse the term
Definition:A macular degeneration that is characterized by central vision loss, an absent electrooculogram light rise and a reduced electroretinogram, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the BEST1 gene on chromosome 11q12. (DO)
Synonyms:exact_synonym: ARB;   autosomal recessive bestrophinopathy
 narrow_synonym: Multifocal retinopathy 1;   Multifocal retinopathy 2;   Multifocal retinopathy 3
 xref: GARD:10301;   MESH:C567518;   MIM:611809;   MONDO:0012733;   OMIA:001444;   OMIA:001553;   OMIA:001554;   ORDO:139455


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bestrophinopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Best1 bestrophin 1 ISO
ISS		 OMIM:611809
ClinVar Annotator: match by term: Autosomal recessive bestrophinopathy		 OMIM
MouseDO
ClinVar		 PMID:2133066 PMID:2162627 PMID:9700209 PMID:10788642 PMID:10798642 More... NCBI chr 1:206,629,340...206,646,085
Ensembl chr 1:206,629,500...206,646,063 		JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: Autosomal recessive bestrophinopathy ClinVar PMID:17128490 PMID:17297678 PMID:23379534 PMID:24033266 PMID:25474345 More... NCBI chr13:50,801,484...50,989,261
Ensembl chr13:50,800,959...50,989,261 		JBrowse link
G Fth1 ferritin heavy chain 1 ISO ClinVar Annotator: match by term: Autosomal recessive bestrophinopathy ClinVar PMID:2133066 PMID:10788642 PMID:18985398 PMID:20927214 PMID:21273940 More... NCBI chr 1:206,627,142...206,629,430
Ensembl chr 1:206,627,103...206,725,424 		JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Autosomal recessive bestrophinopathy ClinVar PMID:11139241 PMID:15370544 PMID:16113362 PMID:16799052 PMID:22466463 More... NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    Diseases of the Aged 1475
      macular degeneration 161
        bestrophinopathy 4
Path 2
Term Annotations click to browse term
  disease 19099
    Pathological Conditions, Signs and Symptoms 13604
      Signs and Symptoms 11163
        Neurologic Manifestations 10417
          sensory system disease 7326
            eye disease 3695
              eye degenerative disease 856
                retinal degeneration 854
                  macular degeneration 161
                    bestrophinopathy 4
paths to the root