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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:early-onset dystonia and/or spastic paraplegia
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Accession:DOID:0070445 term browser browse the term
Definition:A dystonia characterized by variable onset of dystonia, spasticity, or both that has_material_basis_in heterozygous mutation in the ATP5MC3 gene on chromosome 2q31.1. (DO)
Synonyms:exact_synonym: ATP5G3-ASSOCIATED DISORDER;   DYTSPG
 primary_id: MIM:619681
 alt_id: DOID:9000491


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early-onset dystonia and/or spastic paraplegia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp5mc3 ATP synthase membrane subunit c locus 3 ISO ClinVar Annotator: match by term: Dystonia, early-onset, and/or spastic paraplegia OMIM
ClinVar		 PMID:19006192 PMID:34636445 PMID:34954817 NCBI chr 3:58,810,535...58,813,185
Ensembl chr 3:58,810,535...58,814,279 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    Pathological Conditions, Signs and Symptoms 13626
      Signs and Symptoms 11214
        Neurologic Manifestations 10449
          Dyskinesias 2234
            dystonia 506
              early-onset dystonia and/or spastic paraplegia 1
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      nervous system disease 14357
        central nervous system disease 12630
          brain disease 11847
            movement disease 2633
              Dyskinesias 2234
                dystonia 506
                  early-onset dystonia and/or spastic paraplegia 1
paths to the root