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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: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 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 ClinVar NCBI chr17:7,955,603...7,984,903
Ensembl chr17:7,955,603...7,985,240 		JBrowse link
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 term: Groenouw corneal dystrophy type I
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1264234 PMID:9054935 PMID:9727509 PMID:11923233 PMID:21135107 More... NCBI chr17:7,955,603...7,984,903
Ensembl chr17:7,955,603...7,985,240 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Avellino corneal dystrophy | ClinVar Annotator: match by term: Granular corneal dystrophy type 2		 OMIM
CTD
ClinVar		 PMID:9054935 PMID:9780098 PMID:9930165 PMID:10798644 PMID:11923233 More... NCBI chr17:7,955,603...7,984,903
Ensembl chr17:7,955,603...7,985,240 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    sensory system disease 6962
      eye disease 3491
        corneal disease 235
          corneal dystrophy 52
            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 18969
    Pathological Conditions, Signs and Symptoms 13343
      Signs and Symptoms 10819
        Neurologic Manifestations 10053
          sensory system disease 6962
            eye disease 3491
              corneal disease 235
                corneal dystrophy 52
                  epithelial-stromal TGFBI dystrophy 5
                    granular corneal dystrophy 1
                      granular corneal dystrophy 1 1
                      granular corneal dystrophy 2 1
paths to the root