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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, 6
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Accession:DOID:9002352 term browser browse the term
Synonyms:exact_synonym: FECD6;   corneal dystrophy, Fuchs endothelial, late-onset
 primary_id: MESH:C567675
 alt_id: MIM:613270
 xref: MONDO:0013206


show annotations for term's descendants           Sort by:
Corneal Dystrophy, Fuchs Endothelial, 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zeb1 zinc finger E-box binding homeobox 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 6		 OMIM
CTD
ClinVar		 PMID:20036349 PMID:23599324 PMID:24082139 PMID:25190660 PMID:25741868 More... NCBI chr17:51,948,948...52,116,018
Ensembl chr17:51,948,948...52,115,214 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19065
    sensory system disease 7235
      eye disease 3725
        corneal disease 236
          corneal dystrophy 52
            corneal endothelial dystrophy 10
              Fuchs' endothelial dystrophy 9
                Corneal Dystrophy, Fuchs Endothelial, 6 1
Path 2
Term Annotations click to browse term
  disease 19065
    Pathological Conditions, Signs and Symptoms 13511
      Signs and Symptoms 11070
        Neurologic Manifestations 10322
          sensory system disease 7235
            eye disease 3725
              Hereditary Eye Diseases 1117
                corneal dystrophy 52
                  corneal endothelial dystrophy 10
                    Fuchs' endothelial dystrophy 9
                      Corneal Dystrophy, Fuchs Endothelial, 6 1
paths to the root