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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
IAGP		 Multifocal retinopathy 1
Multifocal retinopathy 2
Multifocal retinopathy 3
ClinVar Annotator: match by term: Autosomal recessive bestrophinopathy		 OMIM
OMIA
ClinVar		 PMID:2133066 PMID:2162627 PMID:2855908 PMID:3401268 PMID:9700209 More... NCBI chr18:54,468,844...54,483,565
Ensembl chr18:54,468,844...54,480,311 		JBrowse link
G CRB1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: Autosomal recessive bestrophinopathy ClinVar PMID:15623792 PMID:17128490 PMID:17297678 PMID:22065545 PMID:23379534 More... NCBI chr 7:5,277,394...5,490,542
Ensembl chr 7:5,277,394...5,490,470 		JBrowse link
G FTH1 ferritin heavy chain 1 ISO ClinVar Annotator: match by term: Autosomal recessive bestrophinopathy ClinVar PMID:2133066 PMID:10788642 PMID:10798642 PMID:18985398 PMID:20927214 More... NCBI chr18:54,466,167...54,468,733
Ensembl chr18:54,466,023...54,468,732 		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 chr12:11,299,236...11,316,175
Ensembl chr12:11,299,236...11,316,175 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15753
    Diseases of the Aged 1254
      macular degeneration 154
        bestrophinopathy 4
Path 2
Term Annotations click to browse term
  disease 15753
    Pathological Conditions, Signs and Symptoms 12322
      Signs and Symptoms 10317
        Neurologic Manifestations 9992
          sensory system disease 7034
            eye disease 3622
              eye degenerative disease 910
                retinal degeneration 908
                  macular degeneration 154
                    bestrophinopathy 4
paths to the root