Human Phenotype Ontology 
..Starting node
..expandMyoclonic tremor (HP:0033054)help
Term ID: 33054
Name: Myoclonic tremor
Synonym:
Definition: A tremor-like cortical myoclonus. The tremulous movements are in fact small, high-frequency myoclonic jerks, induced by posture or action. They can be mild, but can also be more incapacitating. When present in the lower limbs, these may lead to gait disorders and even drop attacks. These tremor-like movements during action can be mistaken for essential tremor or epileptic seizures.
Comments:
Reference: HP:0033054
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0033054HP:0033054Myoclonic tremor0RAPGEF2 CL E G H969316854OMIM:618075EPILEPSY, FAMILIAL ADULT MYOCLONIC, 7; FAME7
HP:0033054HP:0033054Myoclonic tremor0TNRC6A CL E G H2732711969OMIM:618074EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6; FAME6


Genes (2) :RAPGEF2 TNRC6A

Diseases (2) :OMIM:618075 OMIM:618074
 

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