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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_0050559
rdf:type
owl:Class
rdfs:subClassOf
_:vb50937116 _:vb50937114 _:vb50937115 n3:DOID_0111229
rdfs:label
Fukuyama congenital muscular dystrophy
rdfs:comment
OMIM mapping confirmed by DO. [SN].
wdrs:describedby
n6:doid.owl
obo:id
DOID:0050559
obo:hasDbXref
ORDO:272 GARD:6475 OMIM:253800
obo:hasOBONamespace
disease_ontology
n3:IAO_0000115
A congenital muscular dystrophy-dystroglycanopathy type A that is characterized by muscle weakness, failure to thrive, severe intellectual and developmental disability, impaired vision and cardiac abnormalities and has_material_basis_in mutation in the FKTN gene that produces the fukutin protein.
Subject Item
_:vb50937114
rdf:type
owl:Restriction
owl:onProperty
n3:IDO_0000664
owl:someValuesFrom
n3:GENO_0000148
wdrs:describedby
n6:doid.owl
Subject Item
_:vb50937115
rdf:type
owl:Restriction
owl:onProperty
n3:RO_0002452
owl:someValuesFrom
n3:SYMP_0000094
wdrs:describedby
n6:doid.owl
Subject Item
_:vb50937116
rdf:type
owl:Restriction
owl:onProperty
n3:RO_0004019
owl:someValuesFrom
n3:HP_0001197
wdrs:describedby
n6:doid.owl