Human Phenotype Ontology 
Grandparent Node:
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Abnormal nervous system physiology (HP:0012638)help
Parent Node:
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Abnormality of movement (HP:0100022)help
..Starting node
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Hyperkinetic movements (HP:0002487)help
Term ID: 2487
Name: Hyperkinetic movements
Synonym: Hyperkinesia; Hyperkinesis; Muscle spasms
Definition: Motor hyperactivity with excessive movement of muscles of the body as a whole.
Comments:
Reference: HP:0002487
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal head movements (HP:0002457) help
..expandAbnormal posturing (HP:0002533) help
..expandAbnormal reflex (HP:0031826) help
..expandAstasia (HP:0020037) help
..expandAsterixis (HP:0012164) help
..expandBimanual synkinesia (HP:0001335) help
..expandCerebral palsy (HP:0100021) help
..expandDiminished movement (HP:0002374) help
..expandDyskinesia (HP:0100660) help
..expandDystonia (HP:0001332) help
..expandFrontal release signs (HP:0000743) help
..expandGait disturbance (HP:0001288) help
..expandHyperactivity (HP:0000752) help
..expandInvoluntary movements (HP:0004305) help
..expandMuscle fibrillation (HP:0010546) help
..expandMyokymia (HP:0002411) help
..expandPostural instability (HP:0002172) help
..expandPrimitive reflex (HP:0002476) help
..expandStooped posture (HP:0025403) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002487HP:0002487Hyperkinetic movements0ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1597408610045
HP:0002487HP:0002487Hyperkinetic movements0GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM13644193600225
HP:0002487HP:0002487Hyperkinetic movements0GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM13584389139311
HP:0002487HP:0002487Hyperkinetic movements0GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA178323657603824
HP:0002487HP:0002487Hyperkinetic movements0PDE10A CL E G H10846616921Dyskinesia, limb and orofacial, infantile-onset616921C4310792OMIM11618772610652
HP:0002487HP:0002487Hyperkinetic movements0PNKD CL E G H2595398810Paroxysmal non-kinesigenic dyskinesiaC1869117ORPHA14269153609023
HP:0002487HP:0002487Hyperkinetic movements0PRRT2 CL E G H11247698810Paroxysmal non-kinesigenic dyskinesiaC1869117ORPHA170230500614386
HP:0002487HP:0002487Hyperkinetic movements0PSAP CL E G H5660611721Combined saposin deficiency611721C2673635OMIM15989498176801
HP:0002487HP:0002487Hyperkinetic movements0SLC9A6 CL E G H10479300243Christianson syndrome300243C2678194OMIM153611079300231
HP:0002487HP:0002487Hyperkinetic movements0TRAPPC11 CL E G H60684369847ORPHA177425751614138
HP:0002487HP:0002487Hyperkinetic movements0YME1L1 CL E G H10730617302Optic atrophy 11617302C4310628OMIM19612843607472
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002487HP:0002487Hyperkinetic movements0NGLY1 CL E G H55768615273Congenital disorder of deglycosylation615273C3808991OMIM055817646610661
HP:0002487HP:0002487Hyperkinetic movements0PTS CL E G H580513Brain malformationC0266449ORPHA02149689612719


Genes (13) :ALDH5A1 GCH1 GNAO1 GNE NGLY1 PDE10A PNKD PRRT2 PSAP PTS SLC9A6 TRAPPC11 YME1L1

Diseases (12) :271980 233910 617493 3166 615273 616921 98810 611721 13 300243 369847 617302
 

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