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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Myotonia with warm-up phenomenon (HP:0003740)help
Term ID: 3740
Name: Myotonia with warm-up phenomenon
Synonym:
Definition: Myotonia that occurs after a period of rest and decreases with continuing exercise.
Comments:
Reference: HP:0003740
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCold-sensitive myotonia (HP:0012904) help
..expandEMG: myotonic runs (HP:0003730) 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
..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:0003740HP:0003740Myotonia with warm-up phenomenon0CLCN1 CL E G H11802019OMIM:160800Myotonia congenita, autosomal dominant133
HP:0003740HP:0003740Myotonia with warm-up phenomenon0CLCN1 CL E G H11802019OMIM:255700Myotonia congenita, autosomal recessive133
HP:0003740HP:0003740Myotonia with warm-up phenomenon0SCN4A CL E G H632910591ORPHA:99734Myotonia fluctuansHP:0040284 - Very rare263


Genes (2) :CLCN1 SCN4A

Diseases (3) :OMIM:160800 OMIM:255700 ORPHA:99734
 

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