Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Abnormal basal ganglia morphology (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)

Motor stereotypy (HP:0000733)

Myoclonus (HP:0001336)

Paroxysmal dyskinesia (HP:0007166)

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

Tics (HP:0100033)

Tremor (HP:0001337)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100248	HP:0100248	Hemiballismus	0	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0100248	HP:0100248	Hemiballismus	0	MRM2 CL E G H	29960	16352	OMIM:618567	MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0100248	HP:0100248	Hemiballismus	0	PDE10A CL E G H	10846	8772	OMIM:616921	Dyskinesia, limb and orofacial, infantile-onset	.	5
HP:0100248	HP:0100248	Hemiballismus	0	PDE10A CL E G H	10846	8772	ORPHA:494526	Infantile-onset generalized dyskinesia with orofacial involvement	HP:0040283 - Occasional	5
HP:0100248	HP:0100248	Hemiballismus	0	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	HP:0040283 - Occasional	1

Genes (4) :EIF2AK2 MRM2 PDE10A SYT1

Diseases (5) :OMIM:618877 OMIM:618567 OMIM:616921 ORPHA:494526 ORPHA:522077

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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