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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:Multifocal Choroiditis
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Accession:DOID:9007189 term browser browse the term
Definition:A multifocal uveitis syndrome involving the RETINAL PIGMENT EPITHELIUM and capillary layer of the CHOROID. It is characterized by chronic UVEITIS and multiple CHOROID lesions referred to as white dots, blurry vision, floaters, sensitivity to light, blind spots, and eye discomfort. (MESH)
Synonyms:primary_id: MESH:D000080364


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Multifocal Choroiditis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfb complement factor B no_association ISO DNA:missense mutations:cds:p.L9H, p.R32Q (rs4151667, rs641153) (human) RGD PMID:19001225 RGD:7411728 NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505 		JBrowse link
G Cfh complement factor H ISO DNA:SNPs, missense mutation:introns, cds:multiple RGD PMID:19001225 RGD:7411728 NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    sensory system disease 7376
      eye disease 3723
        uveal disease 247
          choroid disease 63
            choroiditis 8
              Multifocal Choroiditis 2
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      nervous system disease 14357
        Neurologic Manifestations 10449
          sensory system disease 7376
            eye disease 3723
              uveal disease 247
                uveitis 149
                  panuveitis 89
                    posterior uveitis 11
                      choroiditis 8
                        Multifocal Choroiditis 2
paths to the root