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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:exudative vitreoretinopathy 6
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Accession:DOID:0111410 term browser browse the term
Definition:An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the ZNF408 gene on chromosome 11p11.2. (DO)
Synonyms:exact_synonym: EVR6
 primary_id: OMIM:616468


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exudative vitreoretinopathy 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Znf408 zinc finger protein 408 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Exudative vitreoretinopathy 6		 OMIM
CTD
ClinVar		 PMID:6897033 PMID:23716654 PMID:25741868 PMID:25882705 PMID:26167114 More... NCBI chr 3:77,615,595...77,621,325 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6939
      eye disease 3475
        Hereditary Eye Diseases 1095
          exudative vitreoretinopathy 22
            exudative vitreoretinopathy 6 1
Path 2
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13332
      Signs and Symptoms 10808
        Neurologic Manifestations 10040
          sensory system disease 6939
            eye disease 3475
              retinal disease 1215
                retinal vascular disease 212
                  exudative vitreoretinopathy 22
                    exudative vitreoretinopathy 6 1
paths to the root