Human Phenotype Ontology 
Grandparent Node:
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Abnormal muscle physiology (HP:0011804)help
Parent Node:
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Myotonia (HP:0002486)help
..Starting node
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EMG: myotonic runs (HP:0003730)help
Term ID: 3730
Name: EMG: myotonic runs
Synonym: EMG: spontaneous, repetitive electrical activity
Definition: Spontaneous, repetitive electrical activity demonstrated by electromyography (EMG).
Comments:
Reference: HP:0003730
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCold-sensitive myotonia (HP:0012904) help
..expandHandgrip myotonia (HP:0012899) help
..expandMyotonia of the face (HP:0012900) help
..expandMyotonia of the jaw (HP:0012901) help
..expandMyotonia of the lower limb (HP:0012902) help
..expandMyotonia of the upper limb (HP:0012903) help
..expandMyotonia with warm-up phenomenon (HP:0003740) help
..expandParadoxical myotonia (HP:0011809) help
..expandPercussion myotonia (HP:0010548) 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:0003730HP:0003730EMG: myotonic runs0ANO5 CL E G H20385927337ORPHA:206549Anoctamin-5-related limb-girdle muscular dystrophy R12HP:0040282 - Frequent304
HP:0003730HP:0003730EMG: myotonic runs0CLCN1 CL E G H11802019OMIM:160800Myotonia congenita, autosomal dominant.133
HP:0003730HP:0003730EMG: myotonic runs0CLCN1 CL E G H11802019OMIM:255700Myotonia congenita, autosomal recessive.133
HP:0003730HP:0003730EMG: myotonic runs0SGCG CL E G H644510809ORPHA:353Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5HP:0040282 - Frequent83


Genes (3) :ANO5 CLCN1 SGCG

Diseases (4) :ORPHA:206549 OMIM:160800 OMIM:255700 ORPHA:353
 

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