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Namespace Prefixes

PrefixIRI
n7https://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#
n5http://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
n3:DOID_11723
rdf:type
owl:Class
rdfs:subClassOf
_:vb50947931 _:vb50947932 _:vb50947933 n3:DOID_0080012 n3:DOID_9884
rdfs:label
Duchenne muscular dystrophy
rdfs:comment
OMIM mapping confirmed by DO. [SN].
wdrs:describedby
n7:doid.owl
obo:id
DOID:11723
obo:hasDbXref
SNOMEDCT_US_2021_09_01:155095006 GARD:6291 MESH:D020388 NCI:C75482 OMIM:310200 UMLS_CUI:C0013264
obo:hasExactSynonym
Muscular dystrophy, Duchenne
obo:hasOBONamespace
disease_ontology
obo:inSubset
n5:DO_FlyBase_slim n5:NCIthesaurus
n3:IAO_0000115
A muscular dystrophy that has_material_basis_in X-linked mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy.
Subject Item
_:vb50947931
rdf:type
owl:Restriction
owl:onProperty
n3:IDO_0000664
owl:someValuesFrom
n3:GENO_0000149
wdrs:describedby
n7:doid.owl
Subject Item
_:vb50947932
rdf:type
owl:Restriction
owl:onProperty
n3:RO_0002452
owl:someValuesFrom
n3:SYMP_0000094
wdrs:describedby
n7:doid.owl
Subject Item
_:vb50947933
rdf:type
owl:Restriction
owl:onProperty
n3:RO_0002452
owl:someValuesFrom
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wdrs:describedby
n7:doid.owl