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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 16909
    sensory system disease 5238
      eye disease 2637
        Hereditary Eye Diseases 600
          corneal dystrophy 45
            Reis-Bucklers corneal dystrophy 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        sensory system disease 5238
          eye disease 2637
            Hereditary Eye Diseases 600
              corneal dystrophy 45
                epithelial-stromal TGFBI dystrophy 5
                  Reis-Bucklers corneal dystrophy 1
paths to the root