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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, 8
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Accession:DOID:9007217 term browser browse the term
Synonyms:exact_synonym: FECD8
 primary_id: OMIM:615523



show annotations for term's descendants           Sort by:
Corneal Dystrophy, Fuchs Endothelial, 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agbl1 AGBL carboxypeptidase 1 ISO ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 8
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:24094747 PMID:25741868 NCBI chr 1:130,043,914...130,950,739
Ensembl chr 1:130,043,970...130,951,638
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6939
      eye disease 3475
        corneal disease 233
          corneal dystrophy 52
            corneal endothelial dystrophy 10
              Fuchs' endothelial dystrophy 9
                Corneal Dystrophy, Fuchs Endothelial, 8 1
Path 2
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13332
      Signs and Symptoms 10808
        Neurologic Manifestations 10040
          sensory system disease 6939
            eye disease 3475
              Hereditary Eye Diseases 1095
                corneal dystrophy 52
                  corneal endothelial dystrophy 10
                    Fuchs' endothelial dystrophy 9
                      Corneal Dystrophy, Fuchs Endothelial, 8 1
paths to the root