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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


show annotations for term's descendants           Sort by:
epithelial-stromal TGFBI 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: Epithelial-stromal TGFBI dystrophy ClinVar PMID:9054935 PMID:9463327 PMID:9559741 PMID:10798644 PMID:11923233 More... NCBI chr 2:138,191,793...138,225,373
Ensembl chr 2:138,191,807...138,225,366 		JBrowse link
Finnish type amyloidosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GSN gelsolin ISO ClinVar Annotator: match by term: GSN-related condition | ClinVar Annotator: match by term: Meretoja syndrome OMIM
ClinVar		 PMID:1311149 PMID:1315718 PMID:1322359 PMID:1322360 PMID:1338910 More... NCBI chr 1:261,295,711...261,372,848
Ensembl chr 1:261,307,008...261,372,848 		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 chr14:11,336,585...11,352,569
Ensembl chr14:11,336,595...11,349,764 		JBrowse link
G TACSTD2 tumor associated calcium signal transducer 2 ISO ClinVar Annotator: match by term: Lattice corneal dystrophy Type III OMIM
ClinVar		 PMID:10192395 PMID:12107443 PMID:15652848 PMID:17167402 PMID:25741868 More... NCBI chr 6:153,859,488...153,861,508
Ensembl chr 6:153,859,482...153,861,492 		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 chr 2:138,191,793...138,225,373
Ensembl chr 2:138,191,807...138,225,366 		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 OMIM
ClinVar		 PMID:1264234 PMID:9054935 PMID:9727509 PMID:11923233 PMID:21135107 More... NCBI chr 2:138,191,793...138,225,373
Ensembl chr 2:138,191,807...138,225,366 		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: Avellino corneal dystrophy | ClinVar Annotator: match by term: Granular corneal dystrophy type 2 OMIM
ClinVar		 PMID:9054935 PMID:9780098 PMID:9930165 PMID:10798644 PMID:11923233 More... NCBI chr 2:138,191,793...138,225,373
Ensembl chr 2:138,191,807...138,225,366 		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 ClinVar Annotator: match by term: Lattice corneal dystrophy Type I OMIM
ClinVar		 PMID:1264234 PMID:9054935 PMID:9463327 PMID:9559741 PMID:9727509 More... NCBI chr 2:138,191,793...138,225,373
Ensembl chr 2:138,191,807...138,225,366 		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 ClinVar Annotator: match by term: Corneal dystrophy, lattice type 3A OMIM
ClinVar		 PMID:1264234 PMID:9054935 PMID:9497262 PMID:9727509 PMID:10832717 More... NCBI chr 2:138,191,793...138,225,373
Ensembl chr 2:138,191,807...138,225,366 		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 ClinVar Annotator: match by term: GRANULAR CORNEAL DYSTROPHY, TYPE III | ClinVar Annotator: match by term: Reis Bucklers dystrophy OMIM
ClinVar		 PMID:9780098 PMID:9930165 PMID:10660331 PMID:10798644 PMID:11146721 More... NCBI chr 2:138,191,793...138,225,373
Ensembl chr 2:138,191,807...138,225,366 		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 PMID:28492532 NCBI chr12:327,009...449,375
Ensembl chr12:329,714...449,556 		JBrowse link
G TGFBI transforming growth factor beta induced ISO ClinVar Annotator: match by term: Thiel-Behnke corneal dystrophy OMIM
ClinVar		 PMID:9054935 PMID:9780098 PMID:11923233 PMID:21135107 PMID:22355247 More... NCBI chr 2:138,191,793...138,225,373
Ensembl chr 2:138,191,807...138,225,366 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    sensory system disease 6506
      eye disease 3323
        corneal disease 225
          corneal dystrophy 53
            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 17415
    Pathological Conditions, Signs and Symptoms 11801
      Signs and Symptoms 9739
        Neurologic Manifestations 9419
          sensory system disease 6506
            eye disease 3323
              Hereditary Eye Diseases 1078
                corneal dystrophy 53
                  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