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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 tic disorder that is characterized by multiple physical (motor) tics and at least one vocal (phonic) tic present for more than a year. (DO)
Synonyms:exact_synonym: 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;   combined multiple motor and vocal tic disorder;   motor-verbal tic disorder;   psychogenic tics
 narrow_synonym: TOURETTE DISORDER CHRONIC MOTOR TICS
 primary_id: MESH:D005879
 alt_id: OMIM:137580
 xref: EFO:0004895;   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 Celsr3 cadherin, EGF LAG seven-pass G-type receptor 3 ISO ClinVar Annotator: match by term: Tourette syndrome ClinVar PMID:25590979 PMID:25741868 PMID:30257206 NCBI chr 8:109,530,597...109,558,360
Ensembl chr 8:109,530,641...109,558,354 		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 8:49,708,927...49,772,876
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 susceptibility ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:137580
ClinVar Annotator: match by term: Tourette syndrome		 OMIM
CTD
MouseDO
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
ISS		 ClinVar Annotator: match by term: Tourette syndrome
CTD Direct Evidence: marker/mechanism
OMIM:137580		 OMIM
ClinVar
CTD
MouseDO		 PMID:17003809 PMID:17035247 PMID:18413575 PMID:19018236 PMID:20301778 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 18969
    syndrome 10886
      Gilles de la Tourette syndrome 12
        Chronic Motor Tics 0
        X-Linked Modifier for Neurofunctional Defects 0
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18248
      nervous system disease 14089
        central nervous system disease 12429
          brain disease 11667
            disease of mental health 8318
              developmental disorder of mental health 5554
                specific developmental disorder 4518
                  tic disorder 13
                    Gilles de la Tourette syndrome 12
                      Chronic Motor Tics 0
                      X-Linked Modifier for Neurofunctional Defects 0
paths to the root