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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


show annotations for term's descendants           Sort by:
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 IAGP ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 5:321,714...438,285
Ensembl chr 5:321,714...438,291 		JBrowse link
G BRD9 bromodomain containing 9 IAGP ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 5:863,741...892,801
Ensembl chr 5:850,291...892,801 		JBrowse link
G CEP72 centrosomal protein 72 IAGP ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 5:612,340...676,616
Ensembl chr 5:612,340...667,168 		JBrowse link
G CLPTM1L CLPTM1 like IAGP ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 5:1,317,752...1,345,099
Ensembl chr 5:1,317,752...1,345,099 		JBrowse link
G EXOC3 exocyst complex component 3 IAGP ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 5:443,176...467,290
Ensembl chr 5:443,175...471,937 		JBrowse link
G EXOC3-AS1 EXOC3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 5:441,835...443,160
Ensembl chr 5:441,498...443,160 		JBrowse link
G IRX4 iroquois homeobox 4 IAGP ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 5:1,877,413...1,887,179
Ensembl chr 5:1,877,413...1,887,236 		JBrowse link
G LPCAT1 lysophosphatidylcholine acyltransferase 1 IAGP ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 5:1,461,427...1,523,960
Ensembl chr 5:1,456,480...1,523,962 		JBrowse link
G MRPL36 mitochondrial ribosomal protein L36 IAGP ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 5:1,798,385...1,801,434
Ensembl chr 5:1,798,385...1,801,366 		JBrowse link
G NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 IAGP ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 5:1,801,407...1,816,048
Ensembl chr 5:1,801,407...1,816,048 		JBrowse link
G NKD2 NKD inhibitor of WNT signaling pathway 2 IAGP ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 5:1,008,802...1,038,943
Ensembl chr 5:1,008,802...1,038,943 		JBrowse link
G PDCD6 programmed cell death 6 IAGP ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 5:271,646...314,974
Ensembl chr 5:271,621...314,974 		JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A IAGP ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082 		JBrowse link
G SLC12A7 solute carrier family 12 member 7 IAGP ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 5:1,050,384...1,155,899
Ensembl chr 5:1,050,384...1,112,063 		JBrowse link
G SLC6A18 solute carrier family 6 member 18 IAGP ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 5:1,225,381...1,246,189
Ensembl chr 5:1,225,381...1,246,189 		JBrowse link
G SLC6A19 solute carrier family 6 member 19 IAGP ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 5:1,201,595...1,225,111
Ensembl chr 5:1,201,595...1,225,111 		JBrowse link
G SLC6A3 solute carrier family 6 member 3 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile
ClinVar Annotator: match by term: DOPAMINE TRANSPORTER DEFICIENCY SYNDROME | ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile		 CTD
ClinVar		 PMID:9536098 PMID:10889530 PMID:16103889 PMID:16171832 PMID:16199547 More... NCBI chr 5:1,392,794...1,445,440
Ensembl chr 5:1,392,794...1,445,440 		JBrowse link
G SLC9A3 solute carrier family 9 member A3 IAGP ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 5:470,456...524,449
Ensembl chr 5:470,456...524,449 		JBrowse link
G TERT telomerase reverse transcriptase IAGP ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G TPPP tubulin polymerization promoting protein IAGP ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 5:659,862...700,727
Ensembl chr 5:659,862...693,352 		JBrowse link
G TRIP13 thyroid hormone receptor interactor 13 IAGP ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 5:892,884...919,348
Ensembl chr 5:892,884...919,357 		JBrowse link
G ZDHHC11 zinc finger DHHC-type containing 11 IAGP ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 5:795,605...860,563
Ensembl chr 5:795,605...858,973 		JBrowse link
G ZDHHC11B zinc finger DHHC-type containing 11B IAGP ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 5:710,355...784,729
Ensembl chr 5:710,355...784,729 		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 IAGP ClinVar Annotator: match by term: Classic dopamine transporter deficiency syndrome
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 chr 5:1,392,794...1,445,440
Ensembl chr 5:1,392,794...1,445,440 		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 IAGP ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile, 2 OMIM
ClinVar		 PMID:25741868 PMID:26497564 PMID:26539891 PMID:28492532 PMID:28716265 More... NCBI chr10:117,241,114...117,279,430
Ensembl chr10:117,241,093...117,279,430 		JBrowse link
G SLC18A2-AS1 SLC18A2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile, 2 ClinVar PMID:25741868 NCBI chr10:117,238,765...117,241,997
Ensembl chr10:117,238,762...117,241,998 		JBrowse link
Parkinsonism-Dystonia, Childhood-Onset, 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC129931299 ATAC-STARR-seq lymphoblastoid active region 1590 IAGP ClinVar Annotator: match by term: Parkinsonism-dystonia 3, childhood-onset ClinVar PMID:25741868 PMID:28236339 PMID:28492532 PMID:29120065 PMID:30831263 More... NCBI chr 1:119,140,425...119,140,734 JBrowse link
G WARS2 tryptophanyl tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: Parkinsonism-dystonia 3, childhood-onset OMIM
ClinVar		 PMID:25741868 PMID:28236339 PMID:28492532 PMID:28905505 PMID:29120065 More... NCBI chr 1:119,031,216...119,140,672
Ensembl chr 1:119,031,216...119,140,654 		JBrowse link
G WARS2-AS1 WARS2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Parkinsonism-dystonia 3, childhood-onset ClinVar PMID:25741868 PMID:28236339 PMID:28492532 PMID:29120065 PMID:30831263 More... NCBI chr 1:119,140,396...119,275,973
Ensembl chr 1:119,140,391...119,275,973 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35758
    disease of anatomical entity 32522
      nervous system disease 26418
        neurodegenerative disease 6603
          synucleinopathy 456
            Parkinson's disease 416
              dopamine transporter deficiency syndrome 28
                Parkinsonism-Dystonia, Childhood-Onset, 3 3
                atypical dopamine transporter deficiency syndrome 0
                classic dopamine transporter deficiency syndrome 1
                infantile parkinsonism-dystonia 2 2
Path 2
Term Annotations click to browse term
  disease 35758
    disease of anatomical entity 32522
      nervous system disease 26418
        central nervous system disease 23628
          brain disease 22067
            basal ganglia disease 1247
              Parkinsonism 501
                Parkinson's disease 416
                  dopamine transporter deficiency syndrome 28
                    Parkinsonism-Dystonia, Childhood-Onset, 3 3
                    atypical dopamine transporter deficiency syndrome 0
                    classic dopamine transporter deficiency syndrome 1
                    infantile parkinsonism-dystonia 2 2
paths to the root