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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 9
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Accession:DOID:0090044 term browser browse the term
Definition:A dystonia that is characterized by paroxysmal choreoathetosis and progressive spastic paraplegia, with episodes often precipitated by alcohol, fatigue, or emotional stress, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 2 member 1 (SLC2A1) gene on chromosome 1p34. (DO)
Synonyms:exact_synonym: CSE CHOREOATHETOSIS, PAROXYSMAL, WITH EPISODIC ATAXIA;   DYT9;   episodic choreoathetosis/spasticity;   kinesigenic choreoathetosis with episodic ataxia and spasticity;   paroxysmal choreoathetosis with episodic ataxia
 primary_id: MESH:C563401
 alt_id: OMIM:601042
 xref: ORDO:53583


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      musculoskeletal system disease 8306
        muscular disease 2148
          Muscle Spasticity 123
            dystonia 9 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        peripheral nervous system disease 4124
          neuropathy 3907
            neuromuscular disease 3059
              muscular disease 2148
                Muscle Spasticity 123
                  dystonia 9 1
paths to the root