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ONTOLOGY REPORT - ANNOTATIONS


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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Finnish type amyloidosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gsn gelsolin JBrowse link 3 14,456,106 14,508,922 RGD:7240710
RGD:8554872
gelatinous drop-like corneal dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clu clusterin JBrowse link 15 42,626,612 42,665,858 RGD:8699502
G Tacstd2 tumor-associated calcium signal transducer 2 JBrowse link 4 98,341,187 98,342,887 RGD:7240710
RGD:8554872
granular corneal dystrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tgfbi transforming growth factor, beta induced JBrowse link 17 8,400,123 8,429,338 RGD:7240710
RGD:8554872
granular corneal dystrophy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tgfbi transforming growth factor, beta induced JBrowse link 17 8,400,123 8,429,338 RGD:7240710
RGD:8554872
lattice corneal dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tgfbi transforming growth factor, beta induced JBrowse link 17 8,400,123 8,429,338 RGD:13592920
Lattice Corneal Dystrophy Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tgfbi transforming growth factor, beta induced JBrowse link 17 8,400,123 8,429,338 RGD:7240710
RGD:8554872
Lattice Corneal Dystrophy, Type IIIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tgfbi transforming growth factor, beta induced JBrowse link 17 8,400,123 8,429,338 RGD:7240710
RGD:8554872
Reis-Bucklers corneal dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tgfbi transforming growth factor, beta induced JBrowse link 17 8,400,123 8,429,338 RGD:7240710
RGD:8554872
Thiel-Behnke corneal dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbcd tubulin folding cofactor D JBrowse link 10 110,643,693 110,800,493 RGD:8554872
G Tgfbi transforming growth factor, beta induced JBrowse link 17 8,400,123 8,429,338 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15625
    sensory system disease 4684
      eye and adnexa disease 2252
        eye disease 2252
          corneal disease 172
            corneal dystrophy 40
              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 15625
    disease of anatomical entity 14954
      nervous system disease 10224
        sensory system disease 4684
          eye and adnexa disease 2252
            eye disease 2252
              Hereditary Eye Diseases 504
                corneal dystrophy 40
                  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

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.