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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: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;   RBCD;   Reis-Bucklers dystrophy;   anterior limiting membrane dystrophy type I;   geographic corneal dystrophy;   granular corneal dystrophy type III
 primary_id: MESH:C535476
 alt_id: OMIM:608470
 xref: ORDO:98961
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:608470 OMIM
ClinVar
PMID:9780098, PMID:9930165, PMID:10660331, PMID:11146721, PMID:15885785, PMID:16606891 NCBI chr17:8,400,123...8,429,338
Ensembl chr17:8,400,146...8,429,338
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    sensory system disease 5231
      eye disease 2664
        Hereditary Eye Diseases 580
          corneal dystrophy 44
            Reis-Bucklers corneal dystrophy 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        sensory system disease 5231
          eye disease 2664
            Hereditary Eye Diseases 580
              corneal dystrophy 44
                epithelial-stromal TGFBI dystrophy 5
                  Reis-Bucklers corneal dystrophy 1
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.