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	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007153	HP:0007153	Progressive extrapyramidal movement disorder	0	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78	HP:0040284 - Very rare	100
HP:0007153	HP:0007153	Progressive extrapyramidal movement disorder	0	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7	HP:0040282 - Frequent	38
HP:0007153	HP:0007153	Progressive extrapyramidal movement disorder	0	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration	HP:0040282 - Frequent	76
HP:0007153	HP:0007153	Progressive extrapyramidal movement disorder	0	GAMT CL E G H	2593	4136	OMIM:612736	Cerebral creatine deficiency syndrome 2	.	91
HP:0007153	HP:0007153	Progressive extrapyramidal movement disorder	0	GAMT CL E G H	2593	4136	ORPHA:382	Guanidinoacetate methyltransferase deficiency	HP:0040282 - Frequent	91
HP:0007153	HP:0007153	Progressive extrapyramidal movement disorder	0	MICU1 CL E G H	10367	1530	ORPHA:401768	Proximal myopathy with extrapyramidal signs	HP:0040282 - Frequent	14
HP:0007153	HP:0007153	Progressive extrapyramidal movement disorder	0	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism	HP:0040282 - Frequent	133
HP:0007153	HP:0007153	Progressive extrapyramidal movement disorder	0	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy	HP:0040282 - Frequent
HP:0007153	HP:0007153	Progressive extrapyramidal movement disorder	0	WDR73 CL E G H	84942	25928	ORPHA:83472	CAMOS syndrome	HP:0040281 - Very frequent	14
HP:0007153	HP:0007153	Progressive extrapyramidal movement disorder	0	ZNF592 CL E G H	9640	28986	ORPHA:83472	CAMOS syndrome	HP:0040281 - Very frequent	4

Genes (9) :ATP13A2 CLPB FA2H GAMT MICU1 PLA2G6 RARS1 WDR73 ZNF592

Diseases (9) :ORPHA:513436 ORPHA:445038 ORPHA:329308 OMIM:612736 ORPHA:382 ORPHA:401768 ORPHA:199351 ORPHA:438114 ORPHA:83472

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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