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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:epithelial recurrent erosion dystrophy
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Accession:DOID:0070337 term browser browse the term
Definition:An epithelial and subepithelial dystrophy that is characterized by frequent painful recurrent corneal erosions, small gray anterior stromal flecks associated with larger focal gray-white disc-shaped, circular, or wreath-like lesions with central clarity. (DO)
Synonyms:exact_synonym: COL17A1;   ERED;   recurring hereditary corneal erosions
 primary_id: MESH:C565155
 alt_id: OMIM:122400
For additional species annotation, visit the Alliance of Genome Resources.



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epithelial recurrent erosion dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col17a1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: Epithelial recurrent erosion dystrophy ClinVar
OMIM
PMID:2663347 PMID:14562173 PMID:19710953 PMID:25676728 PMID:25741868 More... NCBI chr 1:246,530,589...246,577,632
Ensembl chr 1:246,531,367...246,577,632
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    sensory system disease 5658
      eye disease 2766
        corneal disease 202
          corneal dystrophy 45
            epithelial and subepithelial dystrophy 5
              epithelial recurrent erosion dystrophy 1
Path 2
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      nervous system disease 12130
        sensory system disease 5658
          eye disease 2766
            corneal disease 202
              corneal dystrophy 45
                epithelial and subepithelial dystrophy 5
                  epithelial recurrent erosion dystrophy 1
paths to the root