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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_3209

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_2730

rdfs:label

junctional epidermolysis bullosa

rdfs:comment

Xref MGI.

wdrs:describedby

n7:doid.owl

obo:id

DOID:3209

obo:hasDbXref

SNOMEDCT_US_2021_09_01:76905008 GARD:2152 NCI:C90598 UMLS_CUI:C0079301 MESH:D016109

obo:hasExactSynonym

congenital junctional epidermolysis bullosa

obo:hasOBONamespace

disease_ontology

obo:inSubset

n8:NCIthesaurus

n2:IAO_0000115

An epidermolysis bullosa that is characterized by recurrent blistering located in the lamina lucida of the basement membrane secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in genes related to laminin 332, which strengthens the skin.