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Namespace Prefixes

PrefixIRI
n6https://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_0110931
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_0050737 _:vb50943936 _:vb50943937 n2:DOID_3191
rdfs:label
nemaline myopathy 10
wdrs:describedby
n6:doid.owl
obo:id
DOID:0110931
obo:hasDbXref
OMIM:616165
obo:hasExactSynonym
NEM10
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A nemaline myopathy characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the LMOD3 gene on chromosome 3p14.
Subject Item
_:vb50943936
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000148
wdrs:describedby
n6:doid.owl
Subject Item
_:vb50943937
rdf:type
owl:Restriction
owl:onProperty
n2:RO_0002452
owl:someValuesFrom
n2:SYMP_0000094
wdrs:describedby
n6:doid.owl