About: glycogen storage disease IXa

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Class
subClassOf	glycogen storage disease IX X-linked recessive disease nodeID://b50944103 nodeID://b50944104 nodeID://b50944105
label	glycogen storage disease IXa
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0111042
database_cross_reference	ICD10CM:E74.0 OMIM:306000
has_exact_synonym	GSD type 9A (en) GSD type IXa (en) GSD9A (en) glycogen storage disease type 9A (en) glycogen storage disease type IXa (en) glycogenosis type 9A (en) glycogenosis type IXa (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A glycogen storage disease IX characterized by hepatomegaly, growth retardation, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis, but symptoms gradually disappear with age, that has_material_basis_in X-linked inheritance of mutation in the PHKA2 gene on chromosome Xp22.
is first of	nodeID://b50957056
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50944106

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