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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Paroxysmal dystonia (HP:0002268)help
Term ID: 2268
Name: Paroxysmal dystonia
Synonym: Episodic dystonia
Definition: A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes.
Comments:
Reference: HP:0002268
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
..expandTorsion dystonia (HP:0001304) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002268HP:0002268Paroxysmal dystonia0DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM11992896608770
HP:0002268HP:0002268Paroxysmal dystonia0DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM11682896608770
HP:0002268HP:0002268Paroxysmal dystonia0PNKD CL E G H25953118800Paroxysmal nonkinesigenic dyskinesia 1118800OMIM13819153609023
HP:0002268HP:0002268Paroxysmal dystonia0PNKD CL E G H25953118800Paroxysmal nonkinesigenic dyskinesia 1118800OMIM13339153609023
HP:0002268HP:0002268Paroxysmal dystonia0PRRT2 CL E G H112476128200Dystonia 10128200C1868682OMIM165930500614386
HP:0002268HP:0002268Paroxysmal dystonia0PRRT2 CL E G H112476128200Dystonia 10128200C1868682OMIM159730500614386
HP:0002268HP:0002268Paroxysmal dystonia0PRRT2 CL E G H112476602066Infantile convulsions and paroxysmal choreoathetosis, familial602066C1865926OMIM165930500614386
HP:0002268HP:0002268Paroxysmal dystonia0PRRT2 CL E G H112476602066Infantile convulsions and paroxysmal choreoathetosis, familial602066C1865926OMIM159730500614386
HP:0002268HP:0002268Paroxysmal dystonia0SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM175311005138140
HP:0002268HP:0002268Paroxysmal dystonia0SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM167211005138140
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (4) :DLAT PNKD PRRT2 SLC2A1

Diseases (5) :245348 118800 128200 602066 606777
 

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