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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:Parkinsonism-Dystonia, Infantile
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Accession:DOID:9005014 term browser browse the term
Synonyms:exact_synonym: DOPAMINE TRANSPORTER DEFICIENCY SYNDROME;   DTDS;   PKDYS
 primary_id: MESH:C567730
 alt_id: RDO:0012024
 xref: OMIM:PS613135
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Parkinsonism-Dystonia, Infantile term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc6a3 solute carrier family 6 member 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Infantile dystonia-parkinsonism
CTD
ClinVar
PMID:10889530, PMID:16103889, PMID:16171832, PMID:16212992, PMID:18614672, PMID:19590515, PMID:20427663, PMID:22495311, PMID:23979605, PMID:25313507, PMID:25331903, PMID:25741436, PMID:25741868, PMID:26931468, PMID:27555326, PMID:28263315, PMID:28492532, PMID:29559554 NCBI chr 1:32,323,011...32,363,983
Ensembl chr 1:32,321,580...32,363,983
JBrowse link
Parkinsonism-Dystonia, Infantile, 1 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: Parkinsonism-dystonia, infantile, 1 OMIM
ClinVar
PMID:19478460, PMID:21112253, PMID:22279524, PMID:22495311, PMID:23979605, PMID:25741436, PMID:25741868, PMID:28492532, PMID:29559554 NCBI chr 1:32,323,011...32,363,983
Ensembl chr 1:32,321,580...32,363,983
JBrowse link
Parkinsonism-Dystonia, Infantile, 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: PARKINSONISM-DYSTONIA, INFANTILE, 2
ClinVar Annotator: match by term: Brain dopamine-serotonin vesicular transport disease
ClinVar Annotator: match by term: Abnormal dense granules
ClinVar
OMIM
PMID:23363473, PMID:32581362 NCBI chr 1:280,397,831...280,457,968
Ensembl chr 1:280,423,079...280,457,148
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        central nervous system disease 9005
          movement disease 1156
            dystonia 161
              Parkinsonism-Dystonia, Infantile 2
                Parkinsonism-Dystonia, Infantile, 1 1
                Parkinsonism-Dystonia, Infantile, 2 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        central nervous system disease 9005
          brain disease 8328
            movement disease 1156
              Dyskinesias 867
                dystonia 161
                  Parkinsonism-Dystonia, Infantile 2
                    Parkinsonism-Dystonia, Infantile, 1 1
                    Parkinsonism-Dystonia, Infantile, 2 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.