This HTML5 document contains 27 embedded RDF statements represented using HTML+Microdata notation.

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Namespace Prefixes

Prefix	IRI
n5	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n2	http://purl.obolibrary.org/obo/
wdrs	http://www.w3.org/2007/05/powder-s#
rdfs	http://www.w3.org/2000/01/rdf-schema#
obo	http://www.geneontology.org/formats/oboInOwl#
n8	http://purl.obolibrary.org/obo/doid#
rdf	http://www.w3.org/1999/02/22-rdf-syntax-ns#
owl	http://www.w3.org/2002/07/owl#
xsdh	http://www.w3.org/2001/XMLSchema#

Statements

Subject Item

n2:DOID_2746

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_2747 _:vb50951133 n2:DOID_0050737

rdfs:label

glycogen storage disease V

rdfs:comment

OMIM mapping confirmed by DO. [SN].

wdrs:describedby

n5:doid.owl

obo:id

DOID:2746

obo:hasDbXref

ICD10CM:E74.04 ORDO:368 MESH:D006012 UMLS_CUI:C0017924 GARD:6528 OMIM:232600 SNOMEDCT_US_2021_09_01:55912009 NCI:C84738

obo:hasExactSynonym

Glycogen storage disease, type V McArdle's disease myophosphorylase deficiency glycogen storage disease type V

obo:hasOBONamespace

disease_ontology

obo:inSubset

n8:NCIthesaurus

n2:IAO_0000115

A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13.

Subject Item

_:vb50951133

rdf:type

owl:Restriction

owl:onProperty

n2:IDO_0000664

owl:someValuesFrom

n2:GENO_0000148

wdrs:describedby

n5:doid.owl