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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;   RDO:0015682
 alt_id: OMIM:613268
For additional species annotation, visit the Alliance of Genome Resources.



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 ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 4 OMIM
ClinVar
PMID:16767101 PMID:18024964 PMID:22072594 PMID:25741868 PMID:29327391 NCBI chr 3:117,900,223...117,912,787
Ensembl chr 3:117,900,223...117,912,674
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18246
    sensory system disease 6520
      eye disease 3004
        corneal disease 211
          corneal dystrophy 51
            corneal endothelial dystrophy 10
              Fuchs' endothelial dystrophy 9
                Corneal Dystrophy, Fuchs Endothelial, 4 1
Path 2
Term Annotations click to browse term
  disease 18246
    disease of anatomical entity 17610
      nervous system disease 13264
        sensory system disease 6520
          eye disease 3004
            Hereditary Eye Diseases 783
              corneal dystrophy 51
                corneal endothelial dystrophy 10
                  Fuchs' endothelial dystrophy 9
                    Corneal Dystrophy, Fuchs Endothelial, 4 1
paths to the root