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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.



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 chr11:74,248,227...74,268,129
Ensembl chr11:74,233,457...74,268,129
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 chr25:29,982,811...29,999,565
Ensembl chr25:29,982,811...29,999,563
JBrowse link
G TACSTD2 tumor associated calcium signal transducer 2 ISO OMIM NCBI chr 5:51,122,469...51,123,753 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 chr11:23,932,038...23,971,983
Ensembl chr11:23,938,453...23,971,607
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 chr11:23,932,038...23,971,983
Ensembl chr11:23,938,453...23,971,607
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 chr11:23,932,038...23,971,983
Ensembl chr11:23,938,453...23,971,607
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 chr11:23,932,038...23,971,983
Ensembl chr11:23,938,453...23,971,607
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 chr11:23,932,038...23,971,983
Ensembl chr11:23,938,453...23,971,607
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 chr11:23,932,038...23,971,983
Ensembl chr11:23,938,453...23,971,607
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
G TGFBI transforming growth factor beta induced ISO OMIM NCBI chr11:23,932,038...23,971,983
Ensembl chr11:23,938,453...23,971,607
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13846
    sensory system disease 5226
      eye disease 2610
        corneal disease 187
          corneal dystrophy 42
            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 13846
    disease of anatomical entity 13505
      nervous system disease 11197
        sensory system disease 5226
          eye disease 2610
            Hereditary Eye Diseases 622
              corneal dystrophy 42
                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