Human Phenotype Ontology 
Grandparent Node:
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Abnormality of movement (HP:0100022)help
Parent Node:
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Involuntary movements (HP:0004305)help
..Starting node
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Intermittent painful muscle spasms (HP:0011964)help
Term ID: 11964
Name: Intermittent painful muscle spasms
Synonym:
Definition: History of repeated intermittent involuntary muscle contractions that were painful.
Comments:
Reference: HP:0011964
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAthetosis (HP:0002305) help
..expandChorea (HP:0002072) help
..expandClonus (HP:0002169) help
..expandFasciculations (HP:0002380) help
..expandHemiballismus (HP:0100248) help
..expandMyoclonus (HP:0001336) help
..expandParoxysmal dyskinesia (HP:0007166) help
..expandSelf-mutilation of tongue and lips due to involuntary movements (HP:0008767) help
..expandStereotypy (HP:0000733) help
..expandTics (HP:0100033) help
..expandTremor (HP:0001337) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0011964HP:0011964Intermittent painful muscle spasms0CACNA1S CL E G H779423ORPHA113271397114208
HP:0011964HP:0011964Intermittent painful muscle spasms0CACNA1S CL E G H779423ORPHA111541397114208
HP:0011964HP:0011964Intermittent painful muscle spasms0RYR1 CL E G H6261423ORPHA1460410483180901
HP:0011964HP:0011964Intermittent painful muscle spasms0RYR1 CL E G H6261423ORPHA1410110483180901
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (2) :CACNA1S RYR1

Diseases (1) :423
 

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