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Namespace Prefixes

PrefixIRI
n4https://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#
n8http://purl.obolibrary.org/obo/doid#
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_3389
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_1091 n2:DOID_2121 _:vb50951882 _:vb50951883 n2:DOID_0050737
rdfs:label
Papillon-Lefevre disease
rdfs:comment
OMIM mapping confirmed by DO. [SN].
wdrs:describedby
n4:doid.owl
obo:id
DOID:3389
obo:hasDbXref
NCI:C84992 ORDO:678 UMLS_CUI:C0030360 OMIM:245000 SNOMEDCT_US_2021_09_01:40158001 GARD:3100 MESH:D010214
obo:hasExactSynonym
Papillon-Lefvre syndrome Papillon Lefevre syndrome
obo:hasOBONamespace
disease_ontology
obo:inSubset
n8:NCIthesaurus
n2:IAO_0000115
An ectodermal dysplasia that is characterized by palmoplantar keratoderma associated with early-onset periodontitis and has_material_basis_in homozygous or compound heterozygous mutation in the cathepsin C gene on chromosome 11q14.
Subject Item
_:vb50951882
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000148
wdrs:describedby
n4:doid.owl
Subject Item
_:vb50951883
rdf:type
owl:Restriction
owl:onProperty
n2:RO_0004026
owl:someValuesFrom
n2:UBERON_0001091
wdrs:describedby
n4:doid.owl