About: childhood onset GLUT1 deficiency syndrome 2

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About: childhood onset GLUT1 deficiency syndrome 2 Goto Sponge Distinct Permalink

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

Attributes	Values
type	Class
subClassOf	autosomal dominant disease dystonia nodeID://b50942151 nodeID://b50942152
label	childhood onset GLUT1 deficiency syndrome 2
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0090045
database_cross_reference	ICD10CM:G24.8 OMIM:612126 ORDO:98811
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A dystonia that is characterized by paroxysmal exercise-induced dyskinesia involving transient abnormal involuntary movements in the exercised limbs, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 2 member 1 (SLC2A1) gene on chromosome 1p34.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50942153

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