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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, 1
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Accession:DOID:9000137 term browser browse the term
Synonyms:exact_synonym: Corneal Dystrophy, Fuchs Endothelial 1;   Corneal Dystrophy, Fuchs Endothelial, Early-Onset;   Dystrophia epithelialis corneae;   FECD1;   Fuchs' dystrophy
 primary_id: MESH:C535478
 alt_id: OMIM:136800
For additional species annotation, visit the Alliance of Genome Resources.


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Corneal Dystrophy, Fuchs' Endothelial, 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col8a2 collagen type VIII alpha 2 chain ISO ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 1 OMIM
ClinVar		 PMID:399801 PMID:11689488 PMID:15914606 PMID:18024822 PMID:22002996 More... NCBI chr 5:138,586,201...138,613,627
Ensembl chr 5:138,585,999...138,612,850 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20988
    sensory system disease 7132
      eye disease 3308
        corneal disease 213
          corneal dystrophy 51
            corneal endothelial dystrophy 10
              Fuchs' endothelial dystrophy 9
                Corneal Dystrophy, Fuchs' Endothelial, 1 1
Path 2
Term Annotations click to browse term
  disease 20988
    Pathological Conditions, Signs and Symptoms 13308
      Signs and Symptoms 10864
        Neurologic Manifestations 10112
          sensory system disease 7132
            eye disease 3308
              Hereditary Eye Diseases 1076
                corneal dystrophy 51
                  corneal endothelial dystrophy 10
                    Fuchs' endothelial dystrophy 9
                      Corneal Dystrophy, Fuchs' Endothelial, 1 1
paths to the root