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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-stromal TGFBI dystrophy
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Accession:DOID:0060441 term browser browse the term
Definition:A corneal dystrophy that is characterized by abnormal deposition of proteins in the cornea and is caused by mutations in TGFBI gene of chromosome 5q. (DO)
Synonyms:primary_id: RDO:9004323
For additional species annotation, visit the Alliance of Genome Resources.


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show annotations for term's descendants           Sort by:
 
Finnish type amyloidosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gsn gelsolin ISO OMIM NCBI chrNW_004955419:6,682,202...6,733,361
Ensembl chrNW_004955419:6,682,058...6,733,361
JBrowse link
gelatinous drop-like corneal dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clu clusterin ISO RGD PMID:10502582 RGD:8699502 NCBI chrNW_004955403:50,160,598...50,175,876
Ensembl chrNW_004955403:50,160,598...50,175,876
JBrowse link
G Tacstd2 tumor associated calcium signal transducer 2 ISO OMIM NCBI chrNW_004955464:1,282,989...1,284,785 JBrowse link
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 chrNW_004955408:31,093,450...31,124,715
Ensembl chrNW_004955408:31,093,050...31,125,398
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 OMIM NCBI chrNW_004955408:31,093,450...31,124,715
Ensembl chrNW_004955408:31,093,050...31,125,398
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 OMIM NCBI chrNW_004955408:31,093,450...31,124,715
Ensembl chrNW_004955408:31,093,050...31,125,398
JBrowse link
Lattice Corneal Dystrophy Type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbi transforming growth factor beta induced ISO OMIM NCBI chrNW_004955408:31,093,450...31,124,715
Ensembl chrNW_004955408:31,093,050...31,125,398
JBrowse link
Lattice Corneal Dystrophy, Type IIIA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbi transforming growth factor beta induced ISO OMIM NCBI chrNW_004955408:31,093,450...31,124,715
Ensembl chrNW_004955408:31,093,050...31,125,398
JBrowse link
Reis-Bucklers 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 OMIM NCBI chrNW_004955408:31,093,450...31,124,715
Ensembl chrNW_004955408:31,093,050...31,125,398
JBrowse link
Thiel-Behnke corneal dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbcd tubulin folding cofactor D ISO ClinVar Annotator: match by term: Thiel-Behnke corneal dystrophy ClinVar PMID:25741868 NCBI chrNW_004955506:273,769...434,205
Ensembl chrNW_004955506:273,954...434,973
JBrowse link
G Tgfbi transforming growth factor beta induced ISO OMIM NCBI chrNW_004955408:31,093,450...31,124,715
Ensembl chrNW_004955408:31,093,050...31,125,398
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12763
    sensory system disease 4916
      eye disease 2473
        corneal disease 170
          corneal dystrophy 38
            epithelial-stromal TGFBI dystrophy 5
              Reis-Bucklers corneal dystrophy 1
              Thiel-Behnke corneal dystrophy 2
              granular corneal dystrophy + 1
              lattice corneal dystrophy + 4
Path 2
Term Annotations click to browse term
  disease 12763
    disease of anatomical entity 12447
      nervous system disease 10346
        sensory system disease 4916
          eye disease 2473
            Hereditary Eye Diseases 579
              corneal dystrophy 38
                epithelial-stromal TGFBI dystrophy 5
                  Reis-Bucklers corneal dystrophy 1
                  Thiel-Behnke corneal dystrophy 2
                  granular corneal dystrophy + 1
                  lattice corneal dystrophy + 4
paths to the root