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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:granular corneal dystrophy
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Accession:DOID:12318 term browser browse the term
Definition:An epithelial-stromal TGFBI dystrophy that is characterized by progressive accumulation of deposits within the layers of the cornea. (DO)
Synonyms:primary_id: RDO:9004325
 xref: ICD10CM:H18.53;   ICD9CM:371.53;   NCI:C34651
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
granular corneal dystrophy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbi transforming growth factor, beta induced ISO ClinVar Annotator: match by OMIM:121900 OMIM
ClinVar
PMID:9054935 PMID:9727509 PMID:11923233 NCBI chr17:8,400,123...8,429,338
Ensembl chr17:8,400,146...8,429,338
JBrowse link
granular corneal dystrophy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbi transforming growth factor, beta induced ISO ClinVar Annotator: match by term: GRANULAR CORNEAL DYSTROPHY, TYPE II
ClinVar Annotator: match by OMIM:607541
OMIM
ClinVar
PMID:9054935 PMID:9780098 PMID:9930165 PMID:15059726 PMID:16606891 NCBI chr17:8,400,123...8,429,338
Ensembl chr17:8,400,146...8,429,338
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    sensory system disease 5584
      eye disease 2725
        corneal disease 202
          corneal dystrophy 45
            epithelial-stromal TGFBI dystrophy 5
              granular corneal dystrophy 1
                granular corneal dystrophy 1 1
                granular corneal dystrophy 2 1
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      nervous system disease 12074
        sensory system disease 5584
          eye disease 2725
            corneal disease 202
              corneal dystrophy 45
                epithelial-stromal TGFBI dystrophy 5
                  granular corneal dystrophy 1
                    granular corneal dystrophy 1 1
                    granular corneal dystrophy 2 1
paths to the root