Thiel-Behnke corneal dystrophy - Ontology Report

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:	Thiel-Behnke corneal dystrophy	go back to main search page
Accession:	DOID:0060455	browse the term
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. (DO)
Synonyms:	exact_synonym:	CDB2; CDTB; TBCD; Waardenburg-Jonker corneal dystrophy; anterior limiting membrane dystrophy type II; corneal dystrophy honeycomb-shaped; corneal dystrophy of Bowman layer, type II; corneal dystrophy of the Bowman layer, type 2; corneal dystrophy, Thiel-Behnke type
	primary_id:	MESH:C535942
	alt_id:	OMIM:602082
	xref:	ORDO:98960

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Genes (2)

Thiel-Behnke corneal dystrophy

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Tbcd

tubulin folding cofactor D

ISO

ClinVar Annotator: match by term: Thiel-Behnke corneal dystrophy

ClinVar

PMID:25741868 PMID:28492532

NCBI chr10:106,717,340...106,874,126
Ensembl chr10:106,717,367...106,874,122

Tgfbi

transforming growth factor, beta induced

ISO

ClinVar Annotator: match by term: Thiel-Behnke corneal dystrophy
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9054935 PMID:9780098 PMID:11923233 PMID:21135107 PMID:22355247 More...

NCBI chr17:7,955,603...7,984,903
Ensembl chr17:7,955,603...7,985,240

Term paths to the root

Path 1
Term	Annotations
disease	18969
sensory system disease	6962
eye disease	3491
corneal disease	235
corneal dystrophy	52
epithelial-stromal TGFBI dystrophy	5
Thiel-Behnke corneal dystrophy	2
Path 2
Term	Annotations
disease	18969
Pathological Conditions, Signs and Symptoms	13343
Signs and Symptoms	10819
Neurologic Manifestations	10053
sensory system disease	6962
eye disease	3491
corneal disease	235
corneal dystrophy	52
epithelial-stromal TGFBI dystrophy	5
Thiel-Behnke corneal dystrophy	2

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RGD DISEASE ONTOLOGY - ANNOTATIONS