Human Phenotype Ontology 
Grandparent Node:
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Abnormality of movement (HP:0100022)help
Parent Node:
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Abnormality of the basal ganglia (HP:0002134)help
Parent Node:
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Involuntary movements (HP:0004305)help
..Starting node
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Hemiballismus (HP:0100248)help
Term ID: 100248
Name: Hemiballismus
Synonym: Ballismus
Definition: Hemiballismus is a rare movement disorder that is caused primarily by damage to various areas in the basal ganglia. Hemiballismus is usually characterized by involuntary flinging motions of the extremities. The movements are often violent and have wide amplitudes of motion. They are continuous and random and can involve proximal and/or distal muscles on one side of the body, while some cases even include the facial muscles. The more a patient is active, the more the movements increase. With relaxation comes a decrease in movements.
Comments:
Reference: HP:0100248
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAthetosis (HP:0002305) help
..expandChorea (HP:0002072) help
..expandClonus (HP:0002169) help
..expandFasciculations (HP:0002380) help
..expandIntermittent painful muscle spasms (HP:0011964) 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:0100248HP:0100248Hemiballismus0PDE10A CL E G H10846616921Dyskinesia, limb and orofacial, infantile-onset616921C4310792OMIM11138772610652
HP:0100248HP:0100248Hemiballismus0PDE10A CL E G H10846616921Dyskinesia, limb and orofacial, infantile-onset616921C4310792OMIM1898772610652
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100248HP:0100248Hemiballismus0PDE10A CL E G H10846494526ORPHA0898772610652
HP:0100248HP:0100248Hemiballismus0PDE10A CL E G H10846494526ORPHA01138772610652


Genes (1) :PDE10A

Diseases (2) :494526 616921
 

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