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Disease Ontology Browser
glucose transporter type 1 deficiency syndrome 1 (DOID:0070561)
Alliance: disease page
Synonyms: classic glucose transporter type 1 deficiency syndrome; classic GLUT1 deficiency syndrome; classic GLUT1-DS; De Vivo disease; encephalopathy due to GLUT1 deficiency; GLUT1 deficiency syndrome 1; GLUT1DS1
Alt IDs: OMIM:606777, ORDO:71277, UMLS_CUI:C4551966
Definition: A glucose transporter type 1 deficiency syndrome characterized by infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, and complex movement disorders.

Disease References using Mouse Models (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory