Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


show annotations for term's descendants           Sort by:
 
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 chr10:109,107,326...109,187,458
Ensembl chr10:109,107,389...109,187,115
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 8:53,678,777...53,743,643
Ensembl chr 8:53,678,777...53,743,642
JBrowse link
G Drd3 dopamine receptor D3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10523822 NCBI chr11:61,819,102...61,883,223
Ensembl chr11:61,822,077...61,874,327
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 1:214,278,296...214,282,818
Ensembl chr 1:214,278,296...214,281,483
JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 ISO RGD PMID:22683190 RGD:9693691 NCBI chr 8:63,599,907...63,637,327
Ensembl chr 8:63,600,663...63,639,654
JBrowse link
G Hdc histidine decarboxylase ISO ClinVar Annotator: match by OMIM:137580 OMIM
ClinVar
PMID:20445167 PMID:24411733 NCBI chr 3:119,057,524...119,075,599
Ensembl chr 3:119,057,517...119,075,619
JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISS OMIM:137580 MouseDO NCBI chr 4:44,747,467...44,854,628
Ensembl chr 4:44,774,741...44,852,665
JBrowse link
G Slc6a3 solute carrier family 6 member 3 ISS OMIM:137580 MouseDO NCBI chr 1:32,323,011...32,363,983
Ensembl chr 1:32,321,580...32,363,983
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 PMID:22942103 PMID:23528612 PMID:23835198 PMID:23990902 PMID:27812321 PMID:28492532 NCBI chr15:93,303,382...93,307,420
Ensembl chr15:93,303,382...93,307,420
JBrowse link
G Sox5 SRY-box transcription factor 5 ISO ClinVar Annotator: match by term: Tourette Syndrome ClinVar NCBI chr 4:178,062,267...179,031,991
Ensembl chr 4:178,066,165...178,441,547
JBrowse link
G Tdo2 tryptophan 2,3-dioxygenase ISO RGD PMID:8873217 RGD:1358595 NCBI chr 2:180,897,059...180,914,919
Ensembl chr 2:180,897,011...180,914,940
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      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 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          brain disease 8448
            disease of mental health 6088
              developmental disorder of mental health 3187
                specific developmental disorder 2367
                  tic disorder 11
                    Gilles de la Tourette syndrome 11
                      Chronic Motor Tics 0
                      X-Linked Modifier for Neurofunctional Defects 0
paths to the root