Human Phenotype Ontology 
Grandparent Node:
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Abnormality of movement (HP:0100022)help
Parent Node:
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EMG abnormality (HP:0003457)help
Parent Node:
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Myokymia (HP:0002411)help
..Starting node
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EMG: myokymic discharges (HP:0100288)help
Term ID: 100288
Name: EMG: myokymic discharges
Synonym:
Definition: The presence of spontaneous bursts of rapidly firing potentials that recur at regular intervals of 2-10 per second and are unaffected by voluntary effort. This is an electromyographic (EMG) finding.
Comments:
Reference: HP:0100288
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandEyelid myokymia (HP:0031166) help
..expandFacial myokymia (HP:0000317) 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:0100288HP:0100288EMG: myokymic discharges0HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotoniaHP:0040281 - Very frequent12
HP:0100288HP:0100288EMG: myokymic discharges0TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndromeHP:0040283 - Occasional13


Genes (2) :HINT1 TBCK

Diseases (2) :ORPHA:324442 ORPHA:488632
 

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