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Namespace Prefixes

PrefixIRI
n6https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n3http://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
n3:DOID_0111786
rdf:type
owl:Class
rdfs:subClassOf
n3:DOID_0080012 _:vb50945462 n3:DOID_0111785
rdfs:label
frontometaphyseal dysplasia 1
wdrs:describedby
n6:doid.owl
obo:id
DOID:0111786
obo:hasDbXref
OMIM:305620
obo:hasExactSynonym
FMD1
obo:hasOBONamespace
disease_ontology
n3:IAO_0000115
A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, and urogenital defects that has_material_basis_in homozygous or hemizygous mutation in FLNA on chromosome Xq28.
Subject Item
_:vb50945462
rdf:type
owl:Restriction
owl:onProperty
n3:IDO_0000664
owl:someValuesFrom
n3:GENO_0000149
wdrs:describedby
n6:doid.owl