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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#
n7http://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
n2:DOID_2754
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_2747
rdfs:label
glycogen storage disease VI
rdfs:comment
Xref MGI.
wdrs:describedby
n6:doid.owl
obo:id
DOID:2754
obo:hasDbXref
MESH:D006013 OMIM:232700 SNOMEDCT_US_2021_09_01:29291001 ORDO:369 NCI:C126875 ICD10CM:E74.09 UMLS_CUI:C0017925
obo:hasExactSynonym
glycogen storage disease type VI Hers' disease hepatic glycogen phosphorylase deficiency hepatophosphorylase deficiency glycogenosis
obo:hasOBONamespace
disease_ontology
obo:inSubset
n7:DO_rare_slim n7:NCIthesaurus
n2:IAO_0000115
A glycogen storage disease characterized by enlargement of the liver, moderately low blood sugar, elevated levels of acetone and other ketone bodies in the blood and moderate growth retardation.