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Namespace Prefixes

PrefixIRI
n6https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n3http://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#
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
n3:DOID_0060737
rdf:type
owl:Class
rdfs:subClassOf
_:vb50939280 n3:DOID_0050737 n3:DOID_3209
rdfs:label
junctional epidermolysis bullosa Herlitz type
wdrs:describedby
n6:doid.owl
obo:id
DOID:0060737
obo:hasDbXref
ORDO:79404 OMIM:226700 ICD10CM:Q81.1
obo:hasExactSynonym
junctional epidermolysis bullosa, Herlitz-Pearson type Herlitz-Pearson-type epidermolysis bullosa Herlitz type epidermolysis bullosa junctionalis epidermolysis bullosa letalis JEB-H junctional epidermolysis bullosa generalisata gravis JEB-Herlitz type
obo:hasOBONamespace
disease_ontology
n3:IAO_0000115
A junctional epidermolysis bullosa characterized by autosomal recessive inheritance of severe blisters and extensive erosions, localized to the skin and mucous membranes, resulting in a failure to thrive and that has_material_basis_in mutations in any 1 of the 3 genes encoding the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The Herlitz type is more severe than the related non-Herlitz type of junctional epidermolysis bullosa.
Subject Item
_:vb50939280
rdf:type
owl:Restriction
owl:onProperty
n3:IDO_0000664
owl:someValuesFrom
n3:GENO_0000148
wdrs:describedby
n6:doid.owl