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Metadata
ID	DOID:0070560
Name	glucose transporter type 1 deficiency syndrome
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. https://pubmed.ncbi.nlm.nih.gov/31605543/, https://pubmed.ncbi.nlm.nih.gov/36315575/, https://www.ncbi.nlm.nih.gov/books/NBK1430/
Xrefs	MESH:C536830 MIM:PS606777 UMLS_CUI:C1847501
Synonyms	GLUT1DS [EXACT]
Parent Relationships	is_a glucose metabolism disease is_a autosomal genetic disease