About: glycogen storage disease IXb

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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 nodeID://b50944098 nodeID://b50944099 nodeID://b50944100 nodeID://b50944101
label	glycogen storage disease IXb
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0111041
database_cross_reference	ICD10CM:E74.0 OMIM:261750 ORDO:79240
has_exact_synonym	GSD IXb (en) GSD type 9B (en) GSD type IXb (en) GSD9B (en) glycogen storage disease type 9B (en) glycogen storage disease type IXb (en) glycogenosis type 9B (en) glycogenosis type IXb (en) glycogenosis due to liver and muscle phosphorylase kinase deficiency (en) GSD due to liver and muscle phosphorylase kinase deficiency (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, short stature, hypotonia and accumulation of glycogen in both liver and muscle, without clinical symptoms, that has_material_basis_in compound heterozygous mutation in the PHKB gene on chromosome 16q12.
is first of	nodeID://b50957057
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50944102

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