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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


show annotations for term's descendants           Sort by:
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 chr17:77,170,966...77,371,078
Ensembl chr17:82,971,613...83,158,223 		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 chr 5:131,420,403...131,455,265
Ensembl chr 5:137,559,321...137,596,392 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15697
    sensory system disease 6706
      eye disease 3393
        corneal disease 223
          corneal dystrophy 51
            epithelial-stromal TGFBI dystrophy 5
              Thiel-Behnke corneal dystrophy 2
Path 2
Term Annotations click to browse term
  disease 15697
    Pathological Conditions, Signs and Symptoms 12081
      Signs and Symptoms 10025
        Neurologic Manifestations 9706
          sensory system disease 6706
            eye disease 3393
              corneal disease 223
                corneal dystrophy 51
                  epithelial-stromal TGFBI dystrophy 5
                    Thiel-Behnke corneal dystrophy 2
paths to the root