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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Torsion dystonia
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Accession:HP:0001304 term browser browse the term
Definition:Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body.
Synonyms:exact_synonym: Dystonia musculorum deformans
 xref: SNOMEDCT_US:22451001;   SNOMEDCT_US:431034009;   UMLS:C0013423


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Torsion dystonia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAR adenosine deaminase RNA specific IAGP HPO ORPHA:41 NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013 		JBrowse link
G HPCA hippocalcin IAGP HPO MIM:224500 ORPHA:99657 NCBI chr 1:32,885,996...32,894,646
Ensembl chr 1:32,885,994...32,898,441 		JBrowse link
G PRRT2 proline rich transmembrane protein 2 IAGP HPO ORPHA:98811 NCBI chr16:29,812,193...29,815,881
Ensembl chr16:29,811,382...29,815,892 		JBrowse link
G SLC2A1 solute carrier family 2 member 1 IAGP HPO ORPHA:98811 NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893 		JBrowse link
G TAF1 TATA-box binding protein associated factor 1 IAGP HPO MIM:314250 ORPHA:53351 NCBI chr  X:71,366,357...71,530,525
Ensembl chr  X:71,366,136...71,532,374 		JBrowse link
G THAP1 THAP domain containing 1 IAGP HPO MIM:602629 NCBI chr 8:42,836,674...42,843,325
Ensembl chr 8:42,836,674...42,843,325 		JBrowse link
G TOR1A torsin family 1 member A IAGP HPO MIM:128100 NCBI chr 9:129,812,942...129,824,136
Ensembl chr 9:129,812,942...129,824,244 		JBrowse link
G TUBB4A tubulin beta 4A class IVa IAGP HPO MIM:128101 NCBI chr19:6,494,319...6,502,848
Ensembl chr19:6,494,319...6,502,848 		JBrowse link
Term paths to the root
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Term Annotations click to browse term
  Human phenotype 73834
    Phenotypic abnormality 73529
      Abnormality of the nervous system 28558
        Abnormal nervous system physiology 26592
          Abnormality of movement 2874
            Dystonia 746
              Torsion dystonia 8
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