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DO Term : glucose transporter type 1 deficiency syndrome 1 [DOID:0070561] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A glucose transporter type 1 deficiency syndrome characterized by infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, and complex movement disorders.

synonyms:
ORDO:71277,
De Vivo disease,
classic GLUT1-DS,
GARD:9265,
OMIM:606777,
606777,
classic GLUT1 deficiency syndrome,
GLUT1DS1,
GLUT1 deficiency syndrome 1,
UMLS_CUI:C4551966,
encephalopathy due to GLUT1 deficiency,
classic glucose transporter type 1 deficiency syndrome

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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