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 extrapyramidal motor function (HP:0002071)

Parent Node:
Dyskinesia (HP:0100660)

..Starting node
..Extrapyramidal dyskinesia (HP:0007308)

Term ID:

7308

Name:

Extrapyramidal dyskinesia

Synonym:

Definition:

Comments:

Reference:

HP:0007308

Genes and Diseases:

Child Nodes:

Sister Nodes:

Orofacial dyskinesia (HP:0002310)

Tardive dyskinesia (HP:0040141)

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:0007308	HP:0007308	Extrapyramidal dyskinesia	0	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency	HP:0040283 - Occasional	91
HP:0007308	HP:0007308	Extrapyramidal dyskinesia	0	C9ORF72 CL E G H	203228	28337	OMIM:105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1	.	56
HP:0007308	HP:0007308	Extrapyramidal dyskinesia	0	DPYS CL E G H	1807	3013	OMIM:222748	Dihydropyrimidinuria	.	44
HP:0007308	HP:0007308	Extrapyramidal dyskinesia	0	SLC2A1 CL E G H	6513	11005	ORPHA:71277	Classic glucose transporter type 1 deficiency syndrome	HP:0040282 - Frequent	255
HP:0007308	HP:0007308	Extrapyramidal dyskinesia	0	TSEN2 CL E G H	80746	28422	OMIM:612389	Pontocerebellar hypoplasia, type 2B	.	84
HP:0007308	HP:0007308	Extrapyramidal dyskinesia	0	TSEN54 CL E G H	283989	27561	OMIM:277470	Pontocerebellar hypoplasia, type 2A	.	102

Genes (6) :ACAT1 C9ORF72 DPYS SLC2A1 TSEN2 TSEN54

Diseases (6) :ORPHA:134 OMIM:105550 OMIM:222748 ORPHA:71277 OMIM:612389 OMIM:277470

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