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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 chrNW_004624754:24,310,344...24,316,482
Ensembl chrNW_004624754:24,310,247...24,317,366 		JBrowse link
G Cfh complement factor H ISO DNA:SNPs, missense mutation:introns, cds:multiple RGD PMID:19001225 RGD:7411728 NCBI chrNW_004624798:3,332,549...3,414,435 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14093
    sensory system disease 6227
      eye disease 3174
        uveal disease 205
          choroid disease 59
            choroiditis 8
              Multifocal Choroiditis 2
Path 2
Term Annotations click to browse term
  disease 14093
    disease of anatomical entity 13772
      nervous system disease 12061
        Neurologic Manifestations 8868
          sensory system disease 6227
            eye disease 3174
              uveal disease 205
                uveitis 115
                  panuveitis 79
                    posterior uveitis 9
                      choroiditis 8
                        Multifocal Choroiditis 2
paths to the root