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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;   RBCD;   Reis-Bucklers dystrophy;   anterior limiting membrane dystrophy type I;   corneal dystrophy of Bowman layer, type 1;   corneal dystrophy of Bowman layer, type I;   corneal dystrophy, Reis-Bucklers type;   geographic corneal dystrophy;   granular corneal dystrophy type III
 primary_id: MESH:C535476
 alt_id: OMIM:608470
 xref: ORDO:98961


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: GRANULAR CORNEAL DYSTROPHY, TYPE III | ClinVar Annotator: match by term: Reis Bucklers dystrophy		 OMIM
CTD
ClinVar		 PMID:9780098 PMID:9930165 PMID:10660331 PMID:10798644 PMID:11146721 More... NCBI chr17:7,955,603...7,984,903
Ensembl chr17:7,955,603...7,985,240 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    sensory system disease 6961
      eye disease 3492
        Hereditary Eye Diseases 1101
          corneal dystrophy 52
            Reis-Bucklers corneal dystrophy 1
Path 2
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13345
      Signs and Symptoms 10821
        Neurologic Manifestations 10055
          sensory system disease 6961
            eye disease 3492
              Hereditary Eye Diseases 1101
                corneal dystrophy 52
                  epithelial-stromal TGFBI dystrophy 5
                    Reis-Bucklers corneal dystrophy 1
paths to the root