ONTOLOGY REPORT - ANNOTATIONS


Term:GLUT1 Deficiency Syndrome
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Accession:DOID:9007802 term browser browse the term
Synonyms:exact_synonym: De Vivo disease;   Encephalopathy Due To Glut1 Deficiency;   GLUT-1 deficiency syndrome;   GLUT1 DEFICIENCY SYNDROME 1;   GLUT1DS;   GLUT1DS1;   Glucose Transporter Protein Syndrome;   Glucose Transporter Type 1 Deficiency Syndrome;   Glucose transport defect, blood-brain barrier;   Glucose transporter type1 (GLUT-1) deficiency
 narrow_synonym: GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIER GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE;   Glut1 deficiency syndrome 1, autosomal recessive
 primary_id: MESH:C536830;   RDO:0002527
 alt_id: OMIM:606777
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GLUT1 Deficiency Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc2a1 solute carrier family 2 member 1 JBrowse link 5 138,154,677 138,182,897 RGD:1624245
RGD:7240710
RGD:8554872
RGD:11554173
RGD:12879464
RGD:12879473
RGD:12879476

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    syndrome 4218
      GLUT1 Deficiency Syndrome 1
Path 2
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  disease 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        genetic disease 5920
          inherited metabolic disorder 1808
            carbohydrate metabolic disorder 302
              GLUT1 Deficiency Syndrome 1
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