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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:GLUT1 Deficiency Syndrome
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Accession:DOID:9007802 term browser browse the term
Definition:The disorder, which results from a defect in the GLUT1 glucose transporter causing decreased glucose concentration in the central nervous system, is part of a wide spectrum of neurologic phenotype variability, including cognitive impairment and movement problems.
Synonyms:exact_synonym: De Vivo disease;   Encephalopathy Due To Glut1 Deficiency;   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;   PROGRESSIVE EXTRAPYRAMIDAL MOVEMENT DISORDER
 related_synonym: GLUT1 deficiency syndrome 1, autosomal recessive
 primary_id: MESH:C536830
 alt_id: OMIM:606777
 xref: NCI:C168599;   ORDO:71277
For additional species annotation, visit the Alliance of Genome Resources.

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GLUT1 Deficiency Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc2a1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Glucose transporter type 1 deficiency syndrome
ClinVar Annotator: match by term: Glut1 deficiency syndrome 1, autosomal recessive
CTD Direct Evidence: marker/mechanism
DNA:mutations:exon, intron:multiple
DNA:deletions: :multiple
ClinVar Annotator: match by term: GLUT1 deficiency syndrome 1, autosomal recessive		 OMIM
ClinVar
CTD		 PMID:8808284 PMID:9335548 PMID:9462754 PMID:10980529 PMID:11076005 PMID:11102982 PMID:11136715 PMID:11389907 PMID:11477212 PMID:11603379 PMID:12325075 PMID:15622525 PMID:16217704 PMID:16949238 PMID:17052934 PMID:17489814 PMID:17718830 PMID:18403583 PMID:18414213 PMID:18451999 PMID:18606970 PMID:19630075 PMID:19798636 PMID:19996082 PMID:20129935 PMID:20221955 PMID:20301603 PMID:20417043 PMID:20574033 PMID:20687207 PMID:21069159 PMID:21135204 PMID:21546317 PMID:21555602 PMID:21832227 PMID:21865127 PMID:22282645 PMID:22704013 PMID:22976442 PMID:23106342 PMID:23280796 PMID:23340081 PMID:23448551 PMID:24080273 PMID:24215330 PMID:24847886 PMID:25022942 PMID:25099510 PMID:25167861 PMID:25326635 PMID:25381171 PMID:25487684 PMID:25564316 PMID:25741868 PMID:25914049 PMID:25982116 PMID:26193382 PMID:26216499 PMID:26267703 PMID:26467025 PMID:26537434 PMID:26598494 PMID:26615598 PMID:26982753 PMID:27351150 PMID:28018440 PMID:28116237 PMID:28492532 PMID:28554332 PMID:28717674 PMID:28961260 PMID:30588498, PMID:9462754, PMID:22011817, PMID:20382060, PMID:22683290 RGD:1624245, RGD:12879464, RGD:12879473, RGD:12879476 NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      GLUT1 Deficiency Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          inherited metabolic disorder 2235
            carbohydrate metabolic disorder 399
              GLUT1 Deficiency Syndrome 1
paths to the root