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Namespace Prefixes

PrefixIRI
n7https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n2http://purl.obolibrary.org/obo/
wdrshttp://www.w3.org/2007/05/powder-s#
rdfshttp://www.w3.org/2000/01/rdf-schema#
obohttp://www.geneontology.org/formats/oboInOwl#
n8http://purl.obolibrary.org/obo/doid#
rdfhttp://www.w3.org/1999/02/22-rdf-syntax-ns#
owlhttp://www.w3.org/2002/07/owl#
xsdhhttp://www.w3.org/2001/XMLSchema#

Statements

Subject Item
n2:DOID_0060455
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_0060441 n2:DOID_0050736 _:vb50938875
rdfs:label
Thiel-Behnke corneal dystrophy
wdrs:describedby
n7:doid.owl
obo:id
DOID:0060455
obo:created_by
elvira
obo:creation_date
2015-10-16T17:57:16Z
obo:hasDbXref
MESH:C535942 OMIM:602082 UMLS_CUI:C1562894 ORDO:98960 SNOMEDCT_US_2021_09_01:417065002
obo:hasExactSynonym
anterior limiting membrane dystrophy type II Waardenburg-Jonker corneal dystrophy TBCD corneal dystrophy honeycomb-shaped corneal dystrophy of Bowman layer type II
obo:hasOBONamespace
disease_ontology
obo:inSubset
n8:DO_rare_slim
n2: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.
Subject Item
_:vb50938875
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000147
wdrs:describedby
n7:doid.owl