Human Phenotype Ontology 
Grandparent Node:
expandInvoluntary movements (HP:0004305)help
Parent Node:
expandMyoclonus (HP:0001336)help
..Starting node
..expandSpinal myoclonus (HP:0010531)help
Term ID: 10531
Name: Spinal myoclonus
Synonym:
Definition: Spinal myoclonus is generally due to a tumor, infection, injury, or degenerative process of the spinal cord, and is characterized by involuntary rhythmic muscle contractions, usually at a rate of more than one per second. Myoclonus occurs synchronously in several muscles and can be increased in severity and frequency by fatigue or stress, but is usually unaffected by sensory stimuli. Spinal myoclonus ceases during sleep or anesthesia.
Comments:
Reference: HP:0010531
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandChin myoclonus (HP:0012462) help
..expandCortical myoclonus (HP:0040148) help
..expandErratic myoclonus (HP:0025357) help
..expandEyelid myoclonus (HP:0025097) help
..expandLimb myoclonus (HP:0045084) help
..expandMorning myoclonic jerks (HP:0007000) help
..expandMyoclonic spasms (HP:0003739) help
..expandPalatal myoclonus (HP:0010530) help
..expandSleep myoclonus (HP:0012323) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0010531HP:0010531Spinal myoclonus0DRD2 CL E G H181336899ORPHA11293023126450
HP:0010531HP:0010531Spinal myoclonus0KCTD17 CL E G H7973436899ORPHA114425705616386
HP:0010531HP:0010531Spinal myoclonus0SGCE CL E G H891036899ORPHA156810808604149
HP:0010531HP:0010531Spinal myoclonus0TOR1A CL E G H186136899ORPHA12203098605204
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (4) :DRD2 KCTD17 SGCE TOR1A

Diseases (1) :36899
 

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