About: glycogen storage disease IXd

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

Attributes	Values
type	Class
subClassOf	glycogen storage disease IX X-linked recessive disease nodeID://b50944095 nodeID://b50944096
label	glycogen storage disease IXd
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0111040
database_cross_reference	ICD10CM:E74.0 OMIM:300559 ORDO:715
has_exact_synonym	glycogenosis due to muscle phosphorylase kinase deficiency (en) GSD IXd (en) GSD due to muscle phosphorylase kinase deficiency (en) GSD type 9D (en) GSD type 9E (en) GSD type IXd (en) GSD type IXe (en) GSD9D (en) X-linked muscke glycogenosis (en) glycogen storage disease type 9D (en) glycogen storage disease type 9E (en) glycogen storage disease type IXd (en) glycogen storage disease type IXe (en) glycogenosis type 9D (en) glycogenosis type 9E (en) glycogenosis type IXd (en) glycogenosis type IXe (en) muscle phosphorylase kinase deficiency (en) glycogen storage disease due to muscle phosphorylase kinase deficiency (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A glycogen storage disease IX that is characterized by X-linked inheritance of variable exercise-induced muscle weakness or stiffness that has_material_basis_in mutation in the PHKA1 gene on chromosome Xq13.
is first of	nodeID://b50957058
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50944097

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