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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_0111591
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_0080015 n2:DOID_225 _:vb50945116 n2:DOID_0050737 _:vb50945117
rdfs:label
congenital heart defects, hamartomas of tongue, and polysyndactyly
wdrs:describedby
n7:doid.owl
obo:id
DOID:0111591
obo:hasDbXref
GARD:4166 ORDO:1338 UMLS_CUI:C2931046 OMIM:217085 MESH:C535849 SNOMEDCT_US_2021_09_01:783738002
obo:hasExactSynonym
CHDTHP Ostravik-Lindemann-Solberg syndrome heart defect-tongue hamartoma-polysyndactyly syndrome
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A syndrome characterized by congenital heart defects, hamartomas of tongue, and polysyndactyly that has_material_basis_in homozygous or compound heterozygous mutation in WDPCP on chromosome 2p15.
Subject Item
_:vb50945116
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000148
wdrs:describedby
n7:doid.owl
Subject Item
_:vb50945117
rdf:type
owl:Restriction
owl:onProperty
n2:RO_0004019
owl:someValuesFrom
n2:HP_0001197
wdrs:describedby
n7:doid.owl