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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: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
For additional species annotation, visit the Alliance of Genome Resources.


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Thiel-Behnke corneal dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbcd tubulin folding cofactor D ISO ClinVar Annotator: match by term: Thiel-Behnke corneal dystrophy ClinVar PMID:25741868 NCBI chr10:110,643,693...110,800,493
Ensembl chr10:110,643,759...110,800,493
JBrowse link
G Tgfbi transforming growth factor, beta induced ISO ClinVar Annotator: match by OMIM:602082 OMIM
ClinVar
PMID:9054935, PMID:9780098, PMID:11923233, PMID:22355247 NCBI chr17:8,400,123...8,429,338
Ensembl chr17:8,400,146...8,429,338
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    sensory system disease 5213
      eye disease 2652
        corneal disease 185
          corneal dystrophy 44
            epithelial-stromal TGFBI dystrophy 5
              Thiel-Behnke corneal dystrophy 2
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        sensory system disease 5213
          eye disease 2652
            corneal disease 185
              corneal dystrophy 44
                epithelial-stromal TGFBI dystrophy 5
                  Thiel-Behnke corneal dystrophy 2
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.