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Namespace Prefixes

PrefixIRI
n5https://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_2751
rdf:type
owl:Class
rdfs:subClassOf
_:vb50951144 n2:DOID_0080012 n2:DOID_2747
rdfs:label
glycogen storage disease VIII
wdrs:describedby
n5:doid.owl
obo:id
DOID:2751
obo:hasDbXref
UMLS_CUI:C0017927 SNOMEDCT_US_2021_09_01:41527003 MESH:D006015
obo:hasExactSynonym
glycogenosis type VIII Glycogen storage disease type VIII glycogen storage disease type VIII hepatic glycogen phosphorylase kinase deficiency
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A glycogen storage disease that is characterized hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase and results from the lack of expression of phosphorylase-b-kinase activity.
Subject Item
_:vb50951144
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000149
wdrs:describedby
n5:doid.owl