glucose transporter type 1 deficiency syndrome Disease Ontology Browser

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Disease Ontology Browser

glucose transporter type 1 deficiency syndrome (DOID:0070560)
Alliance: disease page
Synonyms: GLUT1DS
Alt IDs: MESH:C536830, OMIM:PS606777, UMLS_CUI:C1847501
Definition: A glucose metabolism disease characterized by deficient glucose transport over the blood-brain barrier and reduced glucose availability in the central nervous system that has_material_basis_in mutation in the SLC2A1 on chromosome 1p34.2.

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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