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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

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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 PMID:28492532 NCBI chrNW_004624801:11,439,419...11,597,865
Ensembl chrNW_004624801:11,439,243...11,595,488 		JBrowse link
G Tgfbi transforming growth factor beta induced ISO ClinVar Annotator: match by term: Thiel-Behnke corneal dystrophy OMIM
ClinVar		 PMID:9054935 PMID:9780098 PMID:11923233 PMID:21135107 PMID:22355247 More... NCBI chrNW_004624733:11,038,041...11,070,559
Ensembl chrNW_004624733:11,038,043...11,071,175 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14102
    sensory system disease 6215
      eye disease 3170
        corneal disease 211
          corneal dystrophy 49
            epithelial-stromal TGFBI dystrophy 5
              Thiel-Behnke corneal dystrophy 2
Path 2
Term Annotations click to browse term
  disease 14102
    Pathological Conditions, Signs and Symptoms 11028
      Signs and Symptoms 9153
        Neurologic Manifestations 8859
          sensory system disease 6215
            eye disease 3170
              corneal disease 211
                corneal dystrophy 49
                  epithelial-stromal TGFBI dystrophy 5
                    Thiel-Behnke corneal dystrophy 2
paths to the root