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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
For additional species annotation, visit the Alliance of Genome Resources.


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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)
ClinVar Annotator: match by term: FEVR, X-LINKED
ClinVar Annotator: match by term: Exudative vitreoretinopathy, X-linked
ClinVar
OMIM
PMID:95062 PMID:7558002 PMID:8252044 PMID:8457509 PMID:8535448 PMID:8946107 PMID:9143917 PMID:9382152 PMID:9618247 PMID:17050281 PMID:25741868 PMID:28492532, PMID:8252044 RGD:8694209 NCBI chr  X:6,791,090...6,815,586
Ensembl chr  X:6,791,136...6,815,583
Ensembl chr  X:6,791,136...6,815,583
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    sensory system disease 5248
      eye disease 2673
        Hereditary Eye Diseases 575
          exudative vitreoretinopathy 21
            X-linked exudative vitreoretinopathy 2 1
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      nervous system disease 10977
        sensory system disease 5248
          eye disease 2673
            retinal disease 780
              retinal vascular disease 173
                exudative vitreoretinopathy 21
                  X-linked exudative vitreoretinopathy 2 1
paths to the root