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Namespace Prefixes

PrefixIRI
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n4http://purl.obolibrary.org/obo/
wdrshttp://www.w3.org/2007/05/powder-s#
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
_:vb50951134
rdf:type
owl:Axiom
wdrs:describedby
n6:doid.owl
owl:annotatedProperty
n4:IAO_0000115
owl:annotatedSource
n4:DOID_2746
owl:annotatedTarget
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.
obo:hasDbXref
url:https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-v/