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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 25
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Accession:DOID:0090055 term browser browse the term
Definition:A multifocal dystonia that is characterized by cervical, laryngeal and hand-forearm dystonia, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the GNAL gene on chromosome 18p11. (DO)
Synonyms:exact_synonym: DYT25
 primary_id: OMIM:615073
 xref: ORDO:329466


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dystonia 25 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnal G protein subunit alpha L ISO ClinVar Annotator: match by term: Dystonia 25 OMIM
ClinVar		 PMID:23222958 PMID:23449625 PMID:23759320 PMID:24408567 PMID:25741868 More... NCBI chr18:60,622,311...60,762,599
Ensembl chr18:60,622,311...60,762,599 		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
              multifocal dystonia 6
                dystonia 25 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
              Dyskinesias 2197
                dystonia 435
                  multifocal dystonia 6
                    dystonia 25 1
paths to the root