Human Phenotype Ontology 
Grandparent Node:
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Chorea (HP:0002072)help
Parent Node:
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Choreoathetosis (HP:0001266)help
..Starting node
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Paroxysmal choreoathetosis (HP:0007098)help
Term ID: 7098
Name: Paroxysmal choreoathetosis
Synonym: Choreoathetosis, episodic; Choreoathetosis, intermittent
Definition: Episodes of choreoathetosis that can occur following triggers such as quick voluntary movements.
Comments:
Reference: HP:0007098
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandProgressive choreoathetosis (HP:0007326) 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:0007098HP:0007098Paroxysmal choreoathetosis0PNKD CL E G H259539153OMIM:118800Paroxysmal nonkinesigenic dyskinesia 1.66
HP:0007098HP:0007098Paroxysmal choreoathetosis0PRRT2 CL E G H11247630500OMIM:602066Convulsions, familial infantile, with paroxysmal choreoathetosis.94
HP:0007098HP:0007098Paroxysmal choreoathetosis0PRRT2 CL E G H11247630500OMIM:128200Episodic kinesigenic dyskinesia 1.94


Genes (2) :PNKD PRRT2

Diseases (3) :OMIM:118800 OMIM:602066 OMIM:128200
 

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