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| Term | Thiel-Behnke corneal dystrophy | ID (Ontology) | DOID:0060455 (Human Disease) |
| 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. | ||
| Also Known As | "anterior limiting membrane dystrophy type II" ; "corneal dystrophy honeycomb-shaped" ; "corneal dystrophy of Bowman layer type II" (for all, see Synonyms field below) | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal dominant disease__________ corneal dystrophy | |__epithelial-stromal TGFBI dystrophy__| Thiel-Behnke corneal dystrophy 3 rec. |
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autosomal dominant disease epithelial-stromal TGFBI dystrophy |
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External Crossreferences & Linkouts
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MESH:C535942 MIM:602082 ORDO:98960 SNOMEDCT_US_2023_03_01:417065002 UMLS_CUI:C1562894 |
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