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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:infantile parkinsonism-dystonia 2
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Accession:DOID:0070490 term browser browse the term
Definition:A movement disease characterized by parkinsonism, dystonia, poor fine motor skills, and autonomic dysfunction including abnormal sweating, cold extremities, and poor sleep that has_material_basis_in homozygous mutation in the SLC18A2 gene on chromosome 10q25.3. (DO)
Synonyms:exact_synonym: PKDYS2;   brain dopamine-serotonin vesicular transport disease;   brain monoamine vesicular transport disease
 related_synonym: ABNORMAL DENSE GRANULES
 primary_id: OMIM:618049
 alt_id: DOID:9009198
 xref: GARD:13594


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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: Parkinsonism-dystonia, infantile, 2 OMIM
ClinVar		 PMID:25741868 PMID:26497564 PMID:26539891 PMID:28492532 PMID:28716265 More... NCBI chr 1:258,413,748...258,449,143
Ensembl chr 1:258,413,959...258,448,325 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        Neurologic Manifestations 10055
          Dyskinesias 2197
            dystonia 435
              dopamine transporter deficiency syndrome 23
                infantile parkinsonism-dystonia 2 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            movement disease 2584
              Parkinsonism 454
                Parkinson's disease 373
                  dopamine transporter deficiency syndrome 23
                    infantile parkinsonism-dystonia 2 1
paths to the root