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 of the jaw (HP:0012901)help
Term ID: 12901
Name: Myotonia of the jaw
Synonym:
Definition: Slowed relaxation of muscles in the jaw.
Comments:
Reference: HP:0012901
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 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:0012901HP:0012901Myotonia of the jaw0SCN4A 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.