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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 27
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Accession:DOID:0090050 term browser browse the term
Definition:A segmental dystonia characterized by autosomal recessive inheritance of segmental isolated dystonia mainly affecting the craniocervical region and upper limbs with onset in the first 2 decades of life that has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the collagen type VI alpha-3 gene on chromosome 2q37. (DO)
Synonyms:exact_synonym: AUTOSOMAL RECESSIVE DISTAL HEREDITARY MOTOR NEUROPATHY;   DYT27
 primary_id: OMIM:616411
 xref: ORDO:464440


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dystonia 27 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Dystonia 27 OMIM
ClinVar		 PMID:15689448 PMID:18378883 PMID:18414213 PMID:20981092 PMID:23572247 More... NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    physical disorder 4965
      congenital muscular dystrophy 177
        Collagen VI-related Myopathy 62
          dystonia 27 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18248
      nervous system disease 14089
        peripheral nervous system disease 4120
          neuropathy 3904
            neuromuscular disease 3059
              muscular disease 2147
                muscle tissue disease 1293
                  atrophic muscular disease 603
                    muscular dystrophy 599
                      congenital muscular dystrophy 177
                        Collagen VI-related Myopathy 62
                          dystonia 27 1
paths to the root