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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:dystonia 35, childhood-onset
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Accession:DOID:0060955 term browser browse the term
Definition:A dystonia characterized by the onset of a dystonic movement disorder in the first year of life that has_material_basis_in compound heterozygous mutation in the SHQ1 gene on chromosome 3p13. (DO)
Synonyms:exact_synonym: DYT35
 primary_id: MIM:619921
 alt_id: DOID:9007245


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dystonia 35, childhood-onset term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Shq1 SHQ1, H/ACA ribonucleoprotein assembly factor ISO ClinVar Annotator: match by term: Dystonia 35, childhood-onset OMIM
ClinVar		 PMID:25553844 PMID:25741868 PMID:34542157 PMID:36416405 NCBI chr 4:133,213,357...133,305,586
Ensembl chr 4:133,213,361...133,305,586 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      nervous system disease 14355
        Neurologic Manifestations 10445
          Dyskinesias 2234
            dystonia 506
              dystonia 35, childhood-onset 1
Path 2
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      nervous system disease 14355
        central nervous system disease 12628
          brain disease 11845
            movement disease 2633
              Dyskinesias 2234
                dystonia 506
                  dystonia 35, childhood-onset 1
paths to the root