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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:torsion dystonia 2
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Accession:DOID:0090038 term browser browse the term
Definition:A dystonia that initially involves the distal limbs and later involves the neck, orofacial, and craniocervical regions, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hippocalcin (HPCA) gene on chromosome 1p35. (DO)
Synonyms:exact_synonym: DYT2;   Dystonia Musculorum Deformans 2;   Dystonia Musculorum Deformans Type 2;   torsion dystonia 2, autosomal recessive;   torsion dystonia 2, autosomal recessive type
 primary_id: MESH:C538006
 alt_id: OMIM:224500;   RDO:0003935
 xref: NCI:C123415;   ORDO:99657
For additional species annotation, visit the Alliance of Genome Resources.



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torsion dystonia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HPCA hippocalcin ISO OMIM NCBI chr 2:68,464,631...68,473,661
Ensembl chr 2:68,465,280...68,473,310
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13845
    Developmental Disease 10396
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8950
        genetic disease 8496
          Nervous System Heredodegenerative Disorders 2089
            Dystonia Musculorum Deformans 4
              torsion dystonia 2 1
Path 2
Term Annotations click to browse term
  disease 13845
    disease of anatomical entity 13504
      nervous system disease 11195
        central nervous system disease 9794
          brain disease 9203
            movement disease 1315
              Dyskinesias 1009
                dystonia 181
                  generalized dystonia 5
                    Dystonia Musculorum Deformans 4
                      torsion dystonia 2 1
paths to the root