OBO ID: DOID:0060455
Term Name: Thiel-Behnke corneal dystrophy Search Ontology:
Synonyms:
  • anterior limiting membrane dystrophy type II
  • corneal dystrophy honeycomb-shaped
  • corneal dystrophy of Bowman layer type II
  • TBCD
  • Waardenburg-Jonker corneal dystrophy
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. https://www.omim.org/entry/602082
References:
Ontology: Human Disease   ( DOID:0060455 )
Relationships
is a type of:
OTHER Thiel-Behnke corneal dystrophy PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TGFBI Corneal dystrophy, Thiel-Behnke type 602082
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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