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:
Abnormal central motor function (HP:0011442)

Parent Node:
Abnormality of extrapyramidal motor function (HP:0002071)

..Starting node
..Progressive extrapyramidal movement disorder (HP:0007153)

Term ID:

7153

Name:

Progressive extrapyramidal movement disorder

Synonym:

Definition:

Comments:

Reference:

HP:0007153

Genes and Diseases:

Child Nodes:

Sister Nodes:

Athetoid cerebral palsy (HP:0011445)

Bradykinesia (HP:0002067)

Exaggerated startle response (HP:0002267)

Extrapyramidal dyskinesia (HP:0007308)

Extrapyramidal muscular rigidity (HP:0007076)

Parkinsonism (HP:0001300)

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:0007153	HP:0007153	Progressive extrapyramidal movement disorder	0	GAMT CL E G H	2593	612736	Deficiency of guanidinoacetate methyltransferase	612736	C0574080	OMIM	1	588	4136	601240
HP:0007153	HP:0007153	Progressive extrapyramidal movement disorder	0	MICU1 CL E G H	10367	401768				ORPHA	1	265	1530	605084
HP:0007153	HP:0007153	Progressive extrapyramidal movement disorder	0	PLA2G6 CL E G H	8398	199351				ORPHA	1	775	9039	603604
HP:0007153	HP:0007153	Progressive extrapyramidal movement disorder	0	RARS CL E G H	5917	438114				ORPHA	1		9870	107820
HP:0007153	HP:0007153	Progressive extrapyramidal movement disorder	0	WDR73 CL E G H	84942	83472				ORPHA	1	220	25928	616144
HP:0007153	HP:0007153	Progressive extrapyramidal movement disorder	0	ZNF592 CL E G H	9640	83472				ORPHA	1	128	28986	613624
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007153	HP:0007153	Progressive extrapyramidal movement disorder	0	ATP13A2 CL E G H	23400	513436				ORPHA	0	974	30213	610513

Genes (7) :ATP13A2 GAMT MICU1 PLA2G6 RARS WDR73 ZNF592

Diseases (6) :513436 612736 401768 199351 438114 83472

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