Search Ontology:
Human Disease
Thiel-Behnke corneal dystrophy
- Term ID
- DOID:0060455
- Synonyms
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- 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
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- MESH:C535942
- MIM:602082
- ORDO:98960
- SNOMEDCT_US_2023_03_01:417065002
- UMLS_CUI:C1562894
- Ontology
- Human Disease ( DOID:0060455 )
- is a type of
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Genes Involved
Zebrafish Models