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 extrapyramidal motor function (HP:0002071)

Grandparent Node:
Rigidity (HP:0002063)

Parent Node:
Extrapyramidal muscular rigidity (HP:0007076)

..Starting node
..Progressive extrapyramidal muscular rigidity (HP:0007158)

Term ID:

7158

Name:

Progressive extrapyramidal muscular rigidity

Synonym:

Progressive extrapyramidal rigidity

Definition:

A progressive degree of muscular rigidity (continuous contraction of muscles with constant resistance to passive movement).

Comments:

Reference:

HP:0007158

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0007158	HP:0007158	Progressive extrapyramidal muscular rigidity	0	MAPT CL E G H	4137	6893	ORPHA:240071	Classic progressive supranuclear palsy syndrome	HP:0040282 - Frequent	140
HP:0007158	HP:0007158	Progressive extrapyramidal muscular rigidity	0	MAPT CL E G H	4137	6893	ORPHA:240103	Progressive supranuclear palsy-corticobasal syndrome	HP:0040282 - Frequent	140
HP:0007158	HP:0007158	Progressive extrapyramidal muscular rigidity	0	MAPT CL E G H	4137	6893	ORPHA:240112	Progressive supranuclear palsy-progressive non-fluent aphasia syndrome	HP:0040283 - Occasional	140
HP:0007158	HP:0007158	Progressive extrapyramidal muscular rigidity	0	MICU1 CL E G H	10367	1530	ORPHA:401768	Proximal myopathy with extrapyramidal signs	HP:0040282 - Frequent	14
HP:0007158	HP:0007158	Progressive extrapyramidal muscular rigidity	0	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease	HP:0040282 - Frequent	69
HP:0007158	HP:0007158	Progressive extrapyramidal muscular rigidity	0	TAF1 CL E G H	6872	11535	ORPHA:53351	X-linked dystonia-parkinsonism	HP:0040282 - Frequent	21

Genes (4) :MAPT MICU1 PRNP TAF1

Diseases (6) :ORPHA:240071 ORPHA:240103 ORPHA:240112 ORPHA:401768 ORPHA:282166 ORPHA:53351

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