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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001304HP:0001304Torsion dystonia0ADAR CL E G H10341Chromosome 8, monosomy 8p2C2931634ORPHA1654225146920
HP:0001304HP:0001304Torsion dystonia0ADAR CL E G H10341Chromosome 8, monosomy 8p2C2931634ORPHA1471225146920
HP:0001304HP:0001304Torsion dystonia0HPCA CL E G H320899657ORPHA1275144142622
HP:0001304HP:0001304Torsion dystonia0HPCA CL E G H3208224500Dystonia 2, torsion, autosomal recessive224500C1857093OMIM1275144142622
HP:0001304HP:0001304Torsion dystonia0PRRT2 CL E G H11247698811ORPHA165930500614386
HP:0001304HP:0001304Torsion dystonia0PRRT2 CL E G H11247698811ORPHA159730500614386
HP:0001304HP:0001304Torsion dystonia0SLC2A1 CL E G H651398811ORPHA175311005138140
HP:0001304HP:0001304Torsion dystonia0SLC2A1 CL E G H651398811ORPHA167211005138140
HP:0001304HP:0001304Torsion dystonia0TAF1 CL E G H687253351ORPHA132111535313650
HP:0001304HP:0001304Torsion dystonia0TAF1 CL E G H687253351ORPHA130211535313650
HP:0001304HP:0001304Torsion dystonia0TAF1 CL E G H6872314250Dystonia 3, torsion, X-linked314250C1839130OMIM132111535313650
HP:0001304HP:0001304Torsion dystonia0TAF1 CL E G H6872314250Dystonia 3, torsion, X-linked314250C1839130OMIM130211535313650
HP:0001304HP:0001304Torsion dystonia0THAP1 CL E G H55145602629Dystonia 6, torsion602629C1414216OMIM117120856609520
HP:0001304HP:0001304Torsion dystonia0THAP1 CL E G H55145602629Dystonia 6, torsion602629C1414216OMIM116520856609520
HP:0001304HP:0001304Torsion dystonia0TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM11563098605204
HP:0001304HP:0001304Torsion dystonia0TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM11613098605204
HP:0001304HP:0001304Torsion dystonia0TUBB4A CL E G H10382128101Autosomal dominant torsion dystonia 4128101C1851943OMIM118120774602662
HP:0001304HP:0001304Torsion dystonia0TUBB4A CL E G H10382128101Autosomal dominant torsion dystonia 4128101C1851943OMIM116820774602662
 
HPO disease - gene - phenotype less frequent non-typical associations:


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

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

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.