About: Thiel-Behnke corneal dystrophy

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About: Thiel-Behnke corneal dystrophy Goto Sponge NotDistinct Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Class
subClassOf	autosomal dominant disease epithelial-stromal TGFBI dystrophy nodeID://b50938875
label	Thiel-Behnke corneal dystrophy
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0060455
created_by	elvira
creation_date	2015-10-16T17:57:16Z
database_cross_reference	MESH:C535942 OMIM:602082 ORDO:98960 SNOMEDCT_US_2021_09_01:417065002 UMLS_CUI:C1562894
has_exact_synonym	TBCD (en) Waardenburg-Jonker corneal dystrophy (en) anterior limiting membrane dystrophy type II (en) corneal dystrophy honeycomb-shaped (en) corneal dystrophy of Bowman layer type II (en)
has_obo_namespace	disease_ontology
in_subset	DO_rare_slim
http://purl.obolib...g/obo/IAO_0000115	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.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50938876

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