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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:Corneal Dystrophy, Fuchs Endothelial, 4
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Accession:DOID:9004127 term browser browse the term
Synonyms:exact_synonym: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, LATE-ONSET;   FECD4
 primary_id: MESH:C567677
 alt_id: OMIM:613268



show annotations for term's descendants           Sort by:
Corneal Dystrophy, Fuchs Endothelial, 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a11 solute carrier family 4 member 11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 4
OMIM
CTD
ClinVar
PMID:16767101 PMID:17220209 PMID:17679935 PMID:18024964 PMID:19369245 More... NCBI chr 3:117,900,223...117,912,787
Ensembl chr 3:117,900,223...117,912,674
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21121
    sensory system disease 6932
      eye disease 3466
        corneal disease 233
          corneal dystrophy 52
            corneal endothelial dystrophy 10
              Fuchs' endothelial dystrophy 9
                Corneal Dystrophy, Fuchs Endothelial, 4 1
Path 2
Term Annotations click to browse term
  disease 21121
    Pathological Conditions, Signs and Symptoms 13300
      Signs and Symptoms 10786
        Neurologic Manifestations 10019
          sensory system disease 6932
            eye disease 3466
              Hereditary Eye Diseases 1091
                corneal dystrophy 52
                  corneal endothelial dystrophy 10
                    Fuchs' endothelial dystrophy 9
                      Corneal Dystrophy, Fuchs Endothelial, 4 1
paths to the root