Thiel-Behnke corneal dystrophy
Information
- Disease name
- Thiel-Behnke corneal dystrophy
- Disease ID
- DOID:0060455
- Description
- "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." [url:https\://www.omim.org/entry/602082]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0060441
- Cross Reference ID (Disease Ontology)
- MESH:C535942
- Cross Reference ID (Disease Ontology)
- MIM:602082
- Cross Reference ID (Disease Ontology)
- ORDO:98960
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:417065002
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1562894
- Exact Synonym (Disease Ontology)
- anterior limiting membrane dystrophy type II
- Exact Synonym (Disease Ontology)
- corneal dystrophy honeycomb-shaped
- Exact Synonym (Disease Ontology)
- corneal dystrophy of Bowman layer type II
- Exact Synonym (Disease Ontology)
- TBCD
- Exact Synonym (Disease Ontology)
- Waardenburg-Jonker corneal dystrophy
- OrphaNumber from OrphaNet (Orphanet)
- 98960