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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:dopamine transporter deficiency syndrome
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Accession:DOID:0070487 term browser browse the term
Definition:A movement disease characterized by parkinsonism-dystonia including tremor, progressive bradykinesia, and dystonic posturing that has_material_basis_in mutation in the SLC6A3 gene on chromosome 5p15.33. (DO)
Synonyms:exact_synonym: DTDS;   PKDYS;   Parkinsonism-Dystonia, Infantile
 primary_id: MESH:C567730
 alt_id: DOID:9005014
 xref: MIM:PS613135;   NCI:C129866

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dopamine transporter deficiency syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahrr aryl-hydrocarbon receptor repressor ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chrNW_004624751:128,596...212,170
Ensembl chrNW_004624751:139,085...209,546 		JBrowse link
G Brd9 bromodomain containing 9 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chrNW_004624751:421,945...439,146
Ensembl chrNW_004624751:421,154...439,544 		JBrowse link
G Cep72 centrosomal protein 72 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chrNW_004624751:332,428...352,664 JBrowse link
G Clptm1l CLPTM1 like ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chrNW_004624751:652,857...669,400
Ensembl chrNW_004624751:652,767...669,587 		JBrowse link
G Exoc3 exocyst complex component 3 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chrNW_004624751:215,762...254,200
Ensembl chrNW_004624751:215,821...255,104 		JBrowse link
G Irx4 iroquois homeobox 4 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chrNW_004624751:913,127...916,583
Ensembl chrNW_004624751:913,691...916,842 		JBrowse link
G Lpcat1 lysophosphatidylcholine acyltransferase 1 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chrNW_004624751:732,364...764,421
Ensembl chrNW_004624751:730,472...764,430 		JBrowse link
G Mrpl36 mitochondrial ribosomal protein L36 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chrNW_004624751:871,163...872,596
Ensembl chrNW_004624751:871,158...872,498 		JBrowse link
G Ndufs6 NADH:ubiquinone oxidoreductase subunit S6 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chrNW_004624751:873,575...880,266
Ensembl chrNW_004624751:873,599...880,266 		JBrowse link
G Nkd2 NKD inhibitor of WNT signaling pathway 2 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chrNW_004624751:495,561...507,756 JBrowse link
G Pdcd6 programmed cell death 6 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chrNW_004624751:99,835...120,963
Ensembl chrNW_004624751:99,860...120,963 		JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chrNW_004624751:54,778...90,457
Ensembl chrNW_004624751:54,779...90,447 		JBrowse link
G Slc12a7 solute carrier family 12 member 7 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chrNW_004624751:508,902...544,319
Ensembl chrNW_004624751:506,040...544,365 		JBrowse link
G Slc6a18 solute carrier family 6 member 18 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chrNW_004624751:608,834...617,995
Ensembl chrNW_004624751:608,766...619,213 		JBrowse link
G Slc6a19 solute carrier family 6 member 19 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chrNW_004624751:591,846...606,362
Ensembl chrNW_004624751:591,754...607,693 		JBrowse link
G Slc6a3 solute carrier family 6 member 3 ISO ClinVar Annotator: match by term: DOPAMINE TRANSPORTER DEFICIENCY SYNDROME | ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:9536098 PMID:10889530 PMID:16103889 PMID:16171832 PMID:16199547 More... NCBI chrNW_004624751:694,165...720,287
Ensembl chrNW_004624751:694,099...719,465 		JBrowse link
G Slc9a3 solute carrier family 9 member A3 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chrNW_004624751:254,373...290,218
Ensembl chrNW_004624751:256,305...291,178 		JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chrNW_004624751:624,569...647,198 JBrowse link
G Tppp tubulin polymerization promoting protein ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chrNW_004624751:355,887...375,564
Ensembl chrNW_004624751:355,890...375,561 		JBrowse link
G Trip13 thyroid hormone receptor interactor 13 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chrNW_004624751:439,195...459,033
Ensembl chrNW_004624751:439,119...459,080 		JBrowse link
classic dopamine transporter deficiency syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc6a3 solute carrier family 6 member 3 ISO ClinVar Annotator: match by term: Classic dopamine transporter deficiency syndrome | ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile, 1 OMIM
ClinVar		 PMID:10889530 PMID:16103889 PMID:16171832 PMID:16199547 PMID:16212992 More... NCBI chrNW_004624751:694,165...720,287
Ensembl chrNW_004624751:694,099...719,465 		JBrowse link
infantile parkinsonism-dystonia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc18a2 solute carrier family 18 member A2 ISO ClinVar Annotator: match by term: Brain dopamine-serotonin vesicular transport disease OMIM
ClinVar		 PMID:25741868 PMID:26497564 PMID:26539891 PMID:28492532 PMID:28716265 More... NCBI chrNW_004624737:29,356,590...29,388,099
Ensembl chrNW_004624737:29,358,696...29,387,808 		JBrowse link
Parkinsonism-Dystonia, Childhood-Onset, 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wars2 tryptophanyl tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Parkinsonism-dystonia 3, childhood-onset ClinVar
OMIM		 PMID:25741868 PMID:28236339 PMID:28492532 PMID:28905505 PMID:29120065 More... NCBI chrNW_004624772:14,652,874...14,735,732
Ensembl chrNW_004624772:14,654,403...14,735,315 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14208
    disease of anatomical entity 13924
      nervous system disease 12255
        neurodegenerative disease 4489
          synucleinopathy 352
            Parkinson's disease 321
              dopamine transporter deficiency syndrome 22
                Parkinsonism-Dystonia, Childhood-Onset, 3 1
                atypical dopamine transporter deficiency syndrome 0
                classic dopamine transporter deficiency syndrome 1
                infantile parkinsonism-dystonia 2 1
Path 2
Term Annotations click to browse term
  disease 14208
    disease of anatomical entity 13924
      nervous system disease 12255
        central nervous system disease 10971
          brain disease 10296
            basal ganglia disease 1061
              Parkinsonism 401
                Parkinson's disease 321
                  dopamine transporter deficiency syndrome 22
                    Parkinsonism-Dystonia, Childhood-Onset, 3 1
                    atypical dopamine transporter deficiency syndrome 0
                    classic dopamine transporter deficiency syndrome 1
                    infantile parkinsonism-dystonia 2 1
paths to the root