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:
Abnormal head movements (HP:0002457)

..Starting node
..Jerky head movements (HP:0006961)

Term ID:

6961

Name:

Jerky head movements

Synonym:

Head jerking; Jerking head movements

Definition:

Comments:

Reference:

HP:0006961

Genes and Diseases:

Child Nodes:

Sister Nodes:

Head titubation (HP:0002599)

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:0006961	HP:0006961	Jerky head movements	0	CACNA1H CL E G H	8912	1395	ORPHA:64280	Childhood absence epilepsy	HP:0040284 - Very rare	75
HP:0006961	HP:0006961	Jerky head movements	0	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency	.	82
HP:0006961	HP:0006961	Jerky head movements	0	GABRA1 CL E G H	2554	4075	ORPHA:64280	Childhood absence epilepsy	HP:0040284 - Very rare	134
HP:0006961	HP:0006961	Jerky head movements	0	GABRB3 CL E G H	2562	4083	ORPHA:64280	Childhood absence epilepsy	HP:0040284 - Very rare	57
HP:0006961	HP:0006961	Jerky head movements	0	GABRG2 CL E G H	2566	4087	ORPHA:64280	Childhood absence epilepsy	HP:0040284 - Very rare	139
HP:0006961	HP:0006961	Jerky head movements	0	JRK CL E G H	8629	6199	ORPHA:64280	Childhood absence epilepsy	HP:0040284 - Very rare
HP:0006961	HP:0006961	Jerky head movements	0	MAPT CL E G H	4137	6893	ORPHA:240103	Progressive supranuclear palsy-corticobasal syndrome	HP:0040283 - Occasional	140
HP:0006961	HP:0006961	Jerky head movements	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040283 - Occasional	12
HP:0006961	HP:0006961	Jerky head movements	0	PRNP CL E G H	5621	9449	ORPHA:157941	Huntington disease-like 1	HP:0040283 - Occasional	69
HP:0006961	HP:0006961	Jerky head movements	0	SLC2A1 CL E G H	6513	11005	ORPHA:64280	Childhood absence epilepsy	HP:0040284 - Very rare	255
HP:0006961	HP:0006961	Jerky head movements	0	VAMP1 CL E G H	6843	12642	ORPHA:251282	Autosomal dominant spastic ataxia type 1	HP:0040282 - Frequent	2

Genes (11) :CACNA1H DLAT GABRA1 GABRB3 GABRG2 JRK MAPT PIGT PRNP SLC2A1 VAMP1

Diseases (6) :ORPHA:64280 OMIM:245348 ORPHA:240103 ORPHA:369837 ORPHA:157941 ORPHA:251282

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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