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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;   TBCD;   Waardenburg-Jonker corneal dystrophy;   anterior limiting membrane dystrophy type II;   corneal dystrophy honeycomb-shaped;   corneal dystrophy of Bowman layer, type II;   corneal dystrophy of the Bowman layer, type 2;   corneal dystrophy, Thiel-Behnke type
 primary_id: MESH:C535942
 alt_id: OMIM:602082
 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 chr10:106,717,340...106,874,126
Ensembl chr10:106,717,367...106,874,122
JBrowse link
G Tgfbi transforming growth factor, beta induced ISO ClinVar Annotator: match by term: Thiel-Behnke corneal dystrophy
ClinVar Annotator: match by OMIM:602082
OMIM
ClinVar
PMID:9054935 PMID:9780098 PMID:11923233 PMID:22355247 PMID:25741868 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 17207
    sensory system disease 5611
      eye disease 2732
        corneal disease 201
          corneal dystrophy 45
            epithelial-stromal TGFBI dystrophy 5
              Thiel-Behnke corneal dystrophy 2
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      nervous system disease 12101
        sensory system disease 5611
          eye disease 2732
            corneal disease 201
              corneal dystrophy 45
                epithelial-stromal TGFBI dystrophy 5
                  Thiel-Behnke corneal dystrophy 2
paths to the root