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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:X-linked exudative vitreoretinopathy 2
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Accession:DOID:0111413 term browser browse the term
Definition:An exudative vitreoretinopathy that has_material_basis_in mutation in NDP on chromosome Xp11.3. (DO)
Synonyms:exact_synonym: EVR2;   EVRX;   FEVR, X-Linked;   FEVRX;   X-linked exudative vitreoretinopathy;   familial exudative vitreoretinopathy, 2;   familial exudative vitreoretinopathy, X-linked recessive
 primary_id: MESH:C564428
 alt_id: OMIM:305390


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X-linked exudative vitreoretinopathy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndp norrin cystine knot growth factor NDP ISO DNA:missense mutation: :p.L124F (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Exudative vitreoretinopathy 2, X-linked | ClinVar Annotator: match by term: Exudative vitreoretinopathy, X-linked		 OMIM
CTD
ClinVar
RGD		 PMID:95062 PMID:1307245 PMID:7558002 PMID:7795608 PMID:8252044 More... RGD:8694209 NCBI chr  X:5,796,487...5,820,934
Ensembl chr  X:5,796,487...5,820,934 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6940
      eye disease 3477
        Hereditary Eye Diseases 1097
          exudative vitreoretinopathy 22
            X-linked exudative vitreoretinopathy 2 1
Path 2
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13331
      Signs and Symptoms 10807
        Neurologic Manifestations 10039
          sensory system disease 6940
            eye disease 3477
              retinal disease 1215
                retinal vascular disease 212
                  exudative vitreoretinopathy 22
                    X-linked exudative vitreoretinopathy 2 1
paths to the root