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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_0090067
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_0080006 n2:DOID_0050737 _:vb50942197
rdfs:label
Fuhrmann syndrome
wdrs:describedby
n7:doid.owl
obo:id
DOID:0090067
obo:hasDbXref
GARD:2410 MESH:C538189 ORDO:2854 OMIM:228930 ICD10CM:Q74.8
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A bone development disease that is characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the Wnt family member 7A (WNT7A) gene on chromosome 3p25.
Subject Item
_:vb50942197
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000148
wdrs:describedby
n7:doid.owl