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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, 3
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Accession:DOID:9008049 term browser browse the term
Synonyms:exact_synonym: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, LATE-ONSET;   FCD2 LOCUS;   FECD3
 primary_id: MESH:C567678;   RDO:0015683
 alt_id: OMIM:613267
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
Corneal Dystrophy, Fuchs Endothelial, 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tcf4 transcription factor 4 ISO ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 3 OMIM
ClinVar
PMID:18414213 PMID:18728071 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr18:62,941,739...63,288,126
Ensembl chr18:62,943,782...63,284,425
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    sensory system disease 6575
      eye disease 2996
        corneal disease 211
          corneal dystrophy 51
            corneal endothelial dystrophy 10
              Fuchs' endothelial dystrophy 9
                Corneal Dystrophy, Fuchs Endothelial, 3 1
Path 2
Term Annotations click to browse term
  disease 18256
    Pathological Conditions, Signs and Symptoms 12646
      Signs and Symptoms 10117
        Neurologic Manifestations 9338
          sensory system disease 6575
            eye disease 2996
              Hereditary Eye Diseases 783
                corneal dystrophy 51
                  corneal endothelial dystrophy 10
                    Fuchs' endothelial dystrophy 9
                      Corneal Dystrophy, Fuchs Endothelial, 3 1
paths to the root