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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 37, early-onset with striatal lesions
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Accession:DOID:0060956 term browser browse the term
Definition:A dystonia characterized by the onset of progressive dystonia, dysphagia, and choreoathetosis in the first months or years of life that has_material_basis_in homozygous or compound heterozygous mutations in the NUP54 gene on chromosome 4q21. (DO)
Synonyms:exact_synonym: DYT37
 primary_id: MIM:620427
 alt_id: DOID:9004848


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dystonia 37, early-onset with striatal lesions term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup54 nucleoporin 54 ISO ClinVar Annotator: match by term: Dystonia 37, early-onset, with striatal lesions OMIM
ClinVar		 PMID:25741868 PMID:36333996 NCBI chr14:15,617,630...15,636,029
Ensembl chr14:15,617,679...15,636,028 		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 37, early-onset with striatal lesions 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 37, early-onset with striatal lesions 1
paths to the root