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Namespace Prefixes

PrefixIRI
n7https://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_0060735
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_0050736 n2:DOID_4644 _:vb50939276
rdfs:label
epidermolysis bullosa simplex Dowling-Meara type
wdrs:describedby
n7:doid.owl
obo:id
DOID:0060735
obo:hasDbXref
ICD10CM:Q81.0 OMIM:131760 ORDO:79396
obo:hasExactSynonym
generalized severe epidermolysis bullosa simplex EBS-gen sev epidermolysis bullosa simplex, herpetiformis EBSDM epidermolysis bullosa herpetiformis Dowling-Meara type
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
An epidermolysis bullosa simplex characterized by generalized non-scarring skin blistering that often occurs in clusters, progressive hyperkeratosis of the palms and soles, clumping of keratin filaments in basal epidermal cells and that has_material_basis_in mutation in either the KRT5 or KRT14 genes. This is the most severe of the epidermolysis bullosa simplex types and may result in neonatal or infant lethality in some cases.
Subject Item
_:vb50939276
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000147
wdrs:describedby
n7:doid.owl