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ONTOLOGY REPORT - ANNOTATIONS


Term:Thiel-Behnke corneal dystrophy
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Accession:DOID:0060455 term browser browse the term
Definition:An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and honeycomb-shaped opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea. (DO)
Synonyms:exact_synonym: CDB2;   CDTB;   Corneal Dystrophy Of Bowman Layer, Type II;   TBCD;   Waardenburg-Jonker corneal dystrophy;   anterior limiting membrane dystrophy type II;   corneal dystrophy honeycomb-shaped;   corneal dystrophy of the Bowman layer, type 2;   corneal dystrophy, Thiel-Behnke type
 primary_id: MESH:C535942
 alt_id: OMIM:602082;   RDO:0001317
 xref: ORDO:98960
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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

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Path 1
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  disease 15620
    Developmental Diseases 8739
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7521
        genetic disease 7009
          monogenic disease 4562
            autosomal genetic disease 3515
              autosomal dominant disease 2079
                Thiel-Behnke corneal dystrophy 2
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        sensory system disease 4681
          eye and adnexa disease 2253
            eye disease 2253
              corneal disease 172
                corneal dystrophy 40
                  epithelial-stromal TGFBI dystrophy 5
                    Thiel-Behnke corneal dystrophy 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.