Human Phenotype Ontology 
Grandparent Node:
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Myotonia (HP:0002486)help
Parent Node:
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Percussion myotonia (HP:0010548)help
..Starting node
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Percussion-induced rapid rolling muscle contractions (HP:0003760)help
Term ID: 3760
Name: Percussion-induced rapid rolling muscle contractions
Synonym:
Definition: Mechanical percussion (i.e., striking a muscle with a reflex hammer) leads to spreading waves of muscle contractions that begin proximally and spread laterally across the muscle.
Comments:
Reference: HP:0003760
Genes and Diseases:
 
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 Sister Nodes: 
..expandMuscle mounding (HP:0003719) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0003760HP:0003760Percussion-induced rapid rolling muscle contractions0CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13541529601253
HP:0003760HP:0003760Percussion-induced rapid rolling muscle contractions0CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13351529601253
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003760HP:0003760Percussion-induced rapid rolling muscle contractions0CAV3 CL E G H859488650ORPHA03541529601253
HP:0003760HP:0003760Percussion-induced rapid rolling muscle contractions0CAV3 CL E G H859488650ORPHA03351529601253
HP:0003760HP:0003760Percussion-induced rapid rolling muscle contractions0HINT1 CL E G H3094324442ORPHA01254912601314
HP:0003760HP:0003760Percussion-induced rapid rolling muscle contractions0HINT1 CL E G H3094324442ORPHA01144912601314


Genes (2) :CAV3 HINT1

Diseases (3) :488650 606072 324442
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.