Human Phenotype Ontology 
Grandparent Node:
expandAbnormal muscle physiology (HP:0011804)help
Parent Node:
expandMyotonia (HP:0002486)help
..Starting node
..expandCold-sensitive myotonia (HP:0012904)help
Term ID: 12904
Name: Cold-sensitive myotonia
Synonym:
Definition: An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation that is induced by exposure to cold.
Comments:
Reference: HP:0012904
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..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
..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:0012904HP:0012904Cold-sensitive myotonia0SCN4A CL E G H632910591ORPHA:684Paramyotonia congenita of Von EulenburgHP:0040282 - Frequent263


Genes (1) :SCN4A

Diseases (1) :ORPHA:684
 

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