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DO Term : glucose transporter type 1 deficiency syndrome [DOID:0070560] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • UMLS_CUI:C1847501,
  • MESH:C536830,
  • GLUT1DS,
  • OMIM:PS606777,
  • PS606777
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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