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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:Gilles de la Tourette syndrome
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Accession:DOID:11119 term browser browse the term
Definition:A neuropsychological disorder related to alterations in DOPAMINE metabolism and neurotransmission involving frontal-subcortical neuronal circuits. Both multiple motor and one or more vocal tics need to be present with TICS occurring many times a day, nearly daily, over a period of more than one year. The onset is before age 18 and the disturbance is not due to direct physiological effects of a substance or a another medical condition. The disturbance causes marked distress or significant impairment in social, occupational, or other important areas of functioning. (From DSM-IV, 1994; Neurol Clin 1997 May;15(2):357-79)
Synonyms:exact_synonym: Combined Multiple Motor and Vocal Tic Disorder;   GTS;   Gilles De La Tourette's Syndrome;   Gilles de la Tourette's Disease;   Guinon's disease;   TS;   Tourette Disease;   Tourette Disorder;   Tourette syndrome;   Tourette's Disease;   Tourette's Disorder;   Tourette's Syndrome;   Tourettes Disease;   Tourettes Disorder;   Tourettes syndrome;   chronic motor and vocal tic disorder;   motor-verbal tic disorder;   psychogenic tics
 narrow_synonym: TOURETTE DISORDER CHRONIC MOTOR TICS
 primary_id: MESH:D005879;   RDO:0005663
 alt_id: OMIM:137580
 xref: GARD:7783;   ICD10CM:F95.2;   ICD9CM:307.23;   NCI:C35078
For additional species annotation, visit the Alliance of Genome Resources.



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Gilles de la Tourette syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Baiap2 BAR/IMD domain containing adaptor protein 2 ISO DNA:snps, haplotype:multiple (human) RGD PMID:15303240 RGD:11576298 NCBI chr10:105,223,065...105,290,130
Ensembl chr10:105,223,090...105,290,134
JBrowse link
G Drd2 dopamine receptor D2 treatment IEP mRNA:increased expression:striatum (rat) RGD PMID:19467315 PMID:22876458 RGD:2311576, RGD:6907444 NCBI chr 8:49,708,903...49,772,888
Ensembl chr 8:49,708,927...49,772,875
JBrowse link
G Drd3 dopamine receptor D3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10523822 NCBI chr11:56,879,689...56,931,901
Ensembl chr11:56,879,689...56,940,596
JBrowse link
G Drd4 dopamine receptor D4 susceptibility
no_association
ISO DNA:duplication:exon:g.2689_2737dup (human) RGD PMID:25258183 PMID:8725747 RGD:13209010, RGD:13210516 NCBI chr 1:196,396,366...196,400,824
Ensembl chr 1:196,396,366...196,399,553
JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 ISO RGD PMID:22683190 RGD:9693691 NCBI chr 8:59,222,206...59,259,626
Ensembl chr 8:59,221,653...59,259,639
JBrowse link
G Hdc histidine decarboxylase ISO ClinVar Annotator: match by term: Tourette syndrome
ClinVar Annotator: match by OMIM:137580
OMIM
ClinVar
PMID:20445167 PMID:24411733 PMID:25741868 NCBI chr 3:113,847,256...113,865,334
Ensembl chr 3:113,847,260...113,865,341
JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISS OMIM:137580 MouseDO NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
JBrowse link
G Slc6a3 solute carrier family 6 member 3 ISS OMIM:137580 MouseDO NCBI chr 1:29,709,443...29,750,413
Ensembl chr 1:29,709,443...29,750,413
JBrowse link
G Slitrk1 SLIT and NTRK-like family, member 1 ISO ClinVar Annotator: match by OMIM:137580
ClinVar Annotator: match by term: Tourette Syndrome
OMIM
ClinVar
PMID:17003809 PMID:17035247 PMID:18413575 PMID:19018236 PMID:20351724 More... NCBI chr15:85,723,252...85,727,290
Ensembl chr15:85,724,475...85,727,509
JBrowse link
G Sox5 SRY-box transcription factor 5 ISO ClinVar Annotator: match by term: Tourette Syndrome ClinVar NCBI chr 4:176,781,375...177,736,833
Ensembl chr 4:176,785,892...177,736,852
JBrowse link
G Tdo2 tryptophan 2,3-dioxygenase ISO RGD PMID:8873217 RGD:1358595 NCBI chr 2:167,269,581...167,287,511
Ensembl chr 2:167,269,579...167,287,511
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      Gilles de la Tourette syndrome 11
        Chronic Motor Tics 0
        X-Linked Modifier for Neurofunctional Defects 0
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            disease of mental health 7070
              developmental disorder of mental health 4405
                specific developmental disorder 3664
                  tic disorder 11
                    Gilles de la Tourette syndrome 11
                      Chronic Motor Tics 0
                      X-Linked Modifier for Neurofunctional Defects 0
paths to the root