Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of movement (HP:0100022)

Parent Node:
Abnormality of the basal ganglia (HP:0002134)

Parent Node:
Involuntary movements (HP:0004305)

..Starting node
..Hemiballismus (HP:0100248)

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:

Athetosis (HP:0002305)

Chorea (HP:0002072)

Clonus (HP:0002169)

Fasciculations (HP:0002380)

Intermittent painful muscle spasms (HP:0011964)

Myoclonus (HP:0001336)

Paroxysmal dyskinesia (HP:0007166)

Self-mutilation of tongue and lips due to involuntary movements (HP:0008767)

Stereotypy (HP:0000733)

Tics (HP:0100033)

Tremor (HP:0001337)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0100248	HP:0100248	Hemiballismus	0	PDE10A CL E G H	10846	616921	Dyskinesia, limb and orofacial, infantile-onset	616921	C4310792	OMIM	1	222	8772	610652
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100248	HP:0100248	Hemiballismus	0	PDE10A CL E G H	10846	494526				ORPHA	0	222	8772	610652

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.

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