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	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0007308	HP:0007308	Extrapyramidal dyskinesia	0	C9orf72 CL E G H	203228	105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1	105550	C1862937	OMIM	1	177	28337	614260
HP:0007308	HP:0007308	Extrapyramidal dyskinesia	0	DPYS CL E G H	1807	222748	Dihydropyrimidinase deficiency	222748	C0342803	OMIM	1	210	3013	613326
HP:0007308	HP:0007308	Extrapyramidal dyskinesia	0	SLC2A1 CL E G H	6513	71277				ORPHA	1	965	11005	138140
HP:0007308	HP:0007308	Extrapyramidal dyskinesia	0	TSEN2 CL E G H	80746	612389	Pontocerebellar hypoplasia type 2B	612389	C2676466	OMIM	1	280	28422	608753
HP:0007308	HP:0007308	Extrapyramidal dyskinesia	0	TSEN54 CL E G H	283989	277470	Pontocerebellar hypoplasia type 2A	277470	C1848526	OMIM	1	414	27561	608755
HPO disease - gene - phenotype less frequent non-typical associations:

Genes (6) :C9ORF72 C9orf72 DPYS SLC2A1 TSEN2 TSEN54

Diseases (5) :105550 222748 71277 612389 277470

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