Human Phenotype Ontology 
Grandparent Node:
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Abnormality of movement (HP:0100022)help
Parent Node:
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Involuntary movements (HP:0004305)help
..Starting node
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Paroxysmal dyskinesia (HP:0007166)help
Term ID: 7166
Name: Paroxysmal dyskinesia
Synonym: Involuntary dystonic or choreiform movements
Definition: Episodic bouts of involuntary movements with dystonic, choreic, ballistic movements, or a combination thereof. There is no loss of consciousness during the attacks.
Comments:
Reference: HP:0007166
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAthetosis (HP:0002305) help
..expandChorea (HP:0002072) help
..expandClonus (HP:0002169) help
..expandFasciculations (HP:0002380) help
..expandHemiballismus (HP:0100248) help
..expandIntermittent painful muscle spasms (HP:0011964) help
..expandMyoclonus (HP:0001336) help
..expandSelf-mutilation of tongue and lips due to involuntary movements (HP:0008767) help
..expandStereotypy (HP:0000733) help
..expandTics (HP:0100033) help
..expandTremor (HP:0001337) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0007166HP:0007166Paroxysmal dyskinesia0KCNMA1 CL E G H377879137ORPHA17206284600150
HP:0007166HP:0007166Paroxysmal dyskinesia0KCNMA1 CL E G H377879137ORPHA16326284600150
HP:0007166HP:0007166Paroxysmal dyskinesia0KCNMA1 CL E G H3778609446Generalized epilepsy and paroxysmal dyskinesia609446C1836173OMIM17206284600150
HP:0007166HP:0007166Paroxysmal dyskinesia0KCNMA1 CL E G H3778609446Generalized epilepsy and paroxysmal dyskinesia609446C1836173OMIM16326284600150
HP:0007166HP:0007166Paroxysmal dyskinesia0PNKD CL E G H2595398810Paroxysmal non-kinesigenic dyskinesiaC1869117ORPHA13339153609023
HP:0007166HP:0007166Paroxysmal dyskinesia0PNKD CL E G H2595398810Paroxysmal non-kinesigenic dyskinesiaC1869117ORPHA13819153609023
HP:0007166HP:0007166Paroxysmal dyskinesia0PRRT2 CL E G H11247631709ORPHA159730500614386
HP:0007166HP:0007166Paroxysmal dyskinesia0PRRT2 CL E G H11247698811ORPHA159730500614386
HP:0007166HP:0007166Paroxysmal dyskinesia0PRRT2 CL E G H11247631709ORPHA165930500614386
HP:0007166HP:0007166Paroxysmal dyskinesia0PRRT2 CL E G H11247698811ORPHA165930500614386
HP:0007166HP:0007166Paroxysmal dyskinesia0PRRT2 CL E G H11247698810Paroxysmal non-kinesigenic dyskinesiaC1869117ORPHA165930500614386
HP:0007166HP:0007166Paroxysmal dyskinesia0PRRT2 CL E G H11247698810Paroxysmal non-kinesigenic dyskinesiaC1869117ORPHA159730500614386
HP:0007166HP:0007166Paroxysmal dyskinesia0SCN8A CL E G H633431709ORPHA1128510596600702
HP:0007166HP:0007166Paroxysmal dyskinesia0SCN8A CL E G H633431709ORPHA1111910596600702
HP:0007166HP:0007166Paroxysmal dyskinesia0SLC2A1 CL E G H651353583ORPHA167211005138140
HP:0007166HP:0007166Paroxysmal dyskinesia0SLC2A1 CL E G H651398811ORPHA175311005138140
HP:0007166HP:0007166Paroxysmal dyskinesia0SLC2A1 CL E G H651398811ORPHA167211005138140
HP:0007166HP:0007166Paroxysmal dyskinesia0SLC2A1 CL E G H651353583ORPHA175311005138140
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (5) :KCNMA1 PNKD PRRT2 SCN8A SLC2A1

Diseases (6) :79137 609446 98810 98811 31709 53583
 

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