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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Generalized dystonia (HP:0007325)help
Term ID: 7325
Name: Generalized dystonia
Synonym: Generalised dystonia
Definition: A type of dystonia that affects all or most of the body.
Comments:
Reference: HP:0007325
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAxial dystonia (HP:0002530) help
..expandFocal dystonia (HP:0004373) help
..expandLimb dystonia (HP:0002451) help
..expandOculogyric crisis (HP:0010553) help
..expandParoxysmal dystonia (HP:0002268) help
..expandTorsion dystonia (HP:0001304) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0007325HP:0007325Generalized dystonia0ACTB CL E G H6079107ORPHA1322132102630
HP:0007325HP:0007325Generalized dystonia0ACTB CL E G H6079107ORPHA1349132102630
HP:0007325HP:0007325Generalized dystonia0ACTB CL E G H60607371Juvenile-onset dystonia607371C1846331OMIM1349132102630
HP:0007325HP:0007325Generalized dystonia0ACTB CL E G H60607371Juvenile-onset dystonia607371C1846331OMIM1322132102630
HP:0007325HP:0007325Generalized dystonia0FA2H CL E G H79152171629ORPHA127521197611026
HP:0007325HP:0007325Generalized dystonia0FA2H CL E G H79152171629ORPHA124121197611026
HP:0007325HP:0007325Generalized dystonia0PANK2 CL E G H80025216866ORPHA133115894606157
HP:0007325HP:0007325Generalized dystonia0PANK2 CL E G H80025216866ORPHA126315894606157
HP:0007325HP:0007325Generalized dystonia0SUOX CL E G H6821272300Sulfite oxidase deficiency272300C0268624OMIM115711460606887
HP:0007325HP:0007325Generalized dystonia0SUOX CL E G H6821272300Sulfite oxidase deficiency272300C0268624OMIM123811460606887
HP:0007325HP:0007325Generalized dystonia0THAP1 CL E G H5514598806ORPHA116520856609520
HP:0007325HP:0007325Generalized dystonia0THAP1 CL E G H5514598806ORPHA117120856609520
HP:0007325HP:0007325Generalized dystonia0TUBB4A CL E G H1038298805ORPHA118120774602662
HP:0007325HP:0007325Generalized dystonia0TUBB4A CL E G H1038298805ORPHA116820774602662
HP:0007325HP:0007325Generalized dystonia0TUBB4A CL E G H10382128101Autosomal dominant torsion dystonia 4128101C1851943OMIM118120774602662
HP:0007325HP:0007325Generalized dystonia0TUBB4A CL E G H10382128101Autosomal dominant torsion dystonia 4128101C1851943OMIM116820774602662
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007325HP:0007325Generalized dystonia0GCH1 CL E G H264398808ORPHA03154193600225
HP:0007325HP:0007325Generalized dystonia0GCH1 CL E G H264398808ORPHA02574193600225
HP:0007325HP:0007325Generalized dystonia0HPCA CL E G H320899657ORPHA0275144142622
HP:0007325HP:0007325Generalized dystonia0TH CL E G H7054101150ORPHA065511782191290
HP:0007325HP:0007325Generalized dystonia0TH CL E G H7054101150ORPHA055011782191290


Genes (9) :ACTB FA2H GCH1 HPCA PANK2 SUOX TH THAP1 TUBB4A

Diseases (11) :79107 607371 171629 98808 99657 216866 272300 101150 98806 98805 128101
 

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