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Namespace Prefixes

Prefix	IRI
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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#
n7	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_4644

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_2730

rdfs:label

epidermolysis bullosa simplex

wdrs:describedby

n6:doid.owl

obo:id

DOID:4644

obo:hasDbXref

SNOMEDCT_US_2021_09_01:205585003 MESH:D016110 NCI:C84692 OMIM:615425 ORDO:304 OMIM:601001 GARD:10752 ICD10CM:Q81.0 UMLS_CUI:C0079298

obo:hasExactSynonym

Epidermolysis bullosa simplex

obo:hasOBONamespace

disease_ontology

obo:inSubset

n7:NCIthesaurus

n2:IAO_0000115

An epidermolysis bullosa that is characterized by recurrent blistering at the level of the epidermis secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in the KRT5, KRT14, or PLEC genes, which encode keratin and plectin proteins that provide resilience in skin.