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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS


Term:GLUT1 deficiency syndrome
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Accession:EFO:MONDO:0000188 term browser browse the term
Definition:An epileptic encephalopathy resulting from impaired glucose transport into the brain.
Synonyms:exact_synonym: GLUT1DS
 alt_id: MONDO:0000188
 xref: DOID:0070560;   MEDGEN:337833;   MIM:PS606777;   NANDO:1200799;   UMLS:C1847501



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Path 1
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            hereditary neurological disease 0
              GLUT1 deficiency syndrome 0
                childhood onset GLUT1 deficiency syndrome 2 0
                encephalopathy due to GLUT1 deficiency 0
Path 2
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          nervous system disease 0
            central nervous system disease 0
              brain disease 0
                epilepsy 0
                  metabolic epilepsy 0
                    GLUT1 deficiency syndrome 0
                      childhood onset GLUT1 deficiency syndrome 2 0
                      encephalopathy due to GLUT1 deficiency 0
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