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ONTOLOGY REPORT - ANNOTATIONS


Term:Reis-Bucklers corneal dystrophy
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Accession:DOID:0060453 term browser browse the term
Definition:An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and irregular geographic opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis in 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: CDB1;   CDRB;   Corneal Dystrophy Of Bowman Layer, Type I;   Corneal Dystrophy of Bowman Layer, Type 1;   Corneal dystrophy, Reis-Bucklers type;   Corneal dystrophy, geographic;   Granular Corneal Dystrophy, Type III;   RBCD;   Reis-Bucklers dystrophy;   anterior limiting membrane dystrophy type I
 primary_id: MESH:C535476;   RDO:0000610
 alt_id: OMIM:608470
 xref: ORDO:98961
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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

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Path 1
Term Annotations click to browse term
  disease 15639
    Developmental Diseases 8774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7556
        genetic disease 7052
          Hereditary Eye Diseases 505
            corneal dystrophy 40
              Reis-Bucklers corneal dystrophy 1
Path 2
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      nervous system disease 10242
        sensory system disease 4697
          eye and adnexa disease 2257
            eye disease 2257
              corneal disease 172
                corneal dystrophy 40
                  epithelial-stromal TGFBI dystrophy 5
                    Reis-Bucklers corneal dystrophy 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.