Human Phenotype Ontology 
Grandparent Node:
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Abnormality of movement (HP:0100022)help
Parent Node:
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Dystonia (HP:0001332)help
..Starting node
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Torsion dystonia (HP:0001304)help
Term ID: 1304
Name: Torsion dystonia
Synonym: Dystonia musculorum deformans
Definition: Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body.
Comments:
Reference: HP:0001304
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAxial dystonia (HP:0002530) help
..expandFocal dystonia (HP:0004373) help
..expandGeneralized dystonia (HP:0007325) help
..expandLimb dystonia (HP:0002451) help
..expandOculogyric crisis (HP:0010553) help
..expandParoxysmal dystonia (HP:0002268) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001304HP:0001304Torsion dystonia0ADAR CL E G H103225ORPHA:41Dyschromatosis symmetrica hereditariaHP:0040282 - Frequent116
HP:0001304HP:0001304Torsion dystonia0HPCA CL E G H32085144OMIM:224500Dystonia 2, torsion, autosomal recessive.4
HP:0001304HP:0001304Torsion dystonia0HPCA CL E G H32085144ORPHA:99657Primary dystonia, DYT2 typeHP:0040281 - Very frequent4
HP:0001304HP:0001304Torsion dystonia0PRRT2 CL E G H11247630500ORPHA:98811Paroxysmal exertion-induced dyskinesiaHP:0040282 - Frequent94
HP:0001304HP:0001304Torsion dystonia0SLC2A1 CL E G H651311005ORPHA:98811Paroxysmal exertion-induced dyskinesiaHP:0040282 - Frequent255
HP:0001304HP:0001304Torsion dystonia0TAF1 CL E G H687211535OMIM:314250Dystonia 3, torsion, X-linked.21
HP:0001304HP:0001304Torsion dystonia0TAF1 CL E G H687211535ORPHA:53351X-linked dystonia-parkinsonismHP:0040282 - Frequent21
HP:0001304HP:0001304Torsion dystonia0THAP1 CL E G H5514520856OMIM:602629Dystonia 6, torsion.42
HP:0001304HP:0001304Torsion dystonia0TOR1A CL E G H18613098OMIM:128100Dystonia 1, torsion, autosomal dominant.47
HP:0001304HP:0001304Torsion dystonia0TUBB4A CL E G H1038220774OMIM:128101Dystonia 4, torsion, autosomal dominant.66


Genes (8) :ADAR HPCA PRRT2 SLC2A1 TAF1 THAP1 TOR1A TUBB4A

Diseases (9) :ORPHA:41 OMIM:224500 ORPHA:99657 ORPHA:98811 OMIM:314250 ORPHA:53351 OMIM:602629 OMIM:128100 OMIM:128101
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.