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Namespace Prefixes

PrefixIRI
n6https://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#
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_0060642
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_4959 n2:DOID_0050737 _:vb50939146
rdfs:label
recessive dystrophic epidermolysis bullosa
wdrs:describedby
n6:doid.owl
obo:id
DOID:0060642
obo:hasDbXref
ORDO:79408 OMIM:226600 ICD10CM:Q81.2
obo:hasExactSynonym
autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type autosomal recessive dystrophic epidermolysis bullosa generalisata gravis RDEB, Hallopeau-Siemens type
obo:hasNarrowSynonym
severe generalized RDEB severe generalized recessive dystrophic epidermolysis bullosa
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
An epidermolysis bullosa dystrophica characterized by recurrent blistering at the level of the sublamina densa beneath the cutaneous basement membrane; it has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding type VII collagen (COL7A1) on chromosome 3p21.
Subject Item
_:vb50939146
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000148
wdrs:describedby
n6:doid.owl