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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 characterized by autosomal dominant inheritance of cervical, laryngeal and hand-forearm dystonia that has_material_basis_in heterozygous mutation in the GNAL gene on chromosome 18p11.
Synonyms:exact_synonym: DYT25
 primary_id: OMIM:615073
 alt_id: RDO:9000280
 xref: ORDO:329466
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:615073
ClinVar Annotator: match by term: Dystonia 25
OMIM
ClinVar
PMID:23222958, PMID:23449625, PMID:23759320, PMID:24408567, PMID:26506956, PMID:27123488, PMID:30605297 NCBI chr18:62,805,406...62,946,133
Ensembl chr18:62,805,410...62,944,630
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        Neurologic Manifestations 4189
          Dyskinesias 870
            dystonia 161
              multifocal dystonia 6
                dystonia 25 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            movement disease 1159
              Dyskinesias 870
                dystonia 161
                  multifocal dystonia 6
                    dystonia 25 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.