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Namespace Prefixes

Prefix	IRI
n7	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n2	http://purl.obolibrary.org/obo/
wdrs	http://www.w3.org/2007/05/powder-s#
rdfs	http://www.w3.org/2000/01/rdf-schema#
obo	http://www.geneontology.org/formats/oboInOwl#
n8	http://purl.obolibrary.org/obo/doid#
rdf	http://www.w3.org/1999/02/22-rdf-syntax-ns#
owl	http://www.w3.org/2002/07/owl#
xsdh	http://www.w3.org/2001/XMLSchema#

Statements

Subject Item

n2:DOID_4959

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_2730

rdfs:label

epidermolysis bullosa dystrophica

wdrs:describedby

n7:doid.owl

obo:id

DOID:4959

obo:hasDbXref

UMLS_CUI:C0079294 ICD10CM:Q81.2 GARD:2150 SNOMEDCT_US_2021_09_01:254185007 NCI:C84691 MESH:D016108

obo:hasExactSynonym

Dystrophic epidermolysis bullosa

obo:hasOBONamespace

disease_ontology

obo:inSubset

n8:NCIthesaurus

n2:IAO_0000115

An epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, especially in the hands, feet, knees, and elbows, and has_material_basis_in mutation in COL7A1 gene, which encodes a protein that assists assembly of type VII collagen.