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:
Rigidity (HP:0002063)

..Starting node
..Cogwheel rigidity (HP:0002396)

Term ID:

2396

Name:

Cogwheel rigidity

Synonym:

Definition:

A type of rigidity in which a muscle responds with cogwheellike jerks to the use of constant force in bending the limb (i.e., it gives way in little, repeated jerks when the muscle is passively stretched).

Comments:

Reference:

HP:0002396

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decerebrate rigidity (HP:0025013)

Decorticate rigidity (HP:0011444)

Extrapyramidal muscular rigidity (HP:0007076)

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:0002396	HP:0002396	Cogwheel rigidity	0	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040283 - Occasional	116
HP:0002396	HP:0002396	Cogwheel rigidity	0	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040283 - Occasional
HP:0002396	HP:0002396	Cogwheel rigidity	0	ATP6AP2 CL E G H	10159	18305	OMIM:300911	Parkinsonism with spasticity, X-linked	.	36
HP:0002396	HP:0002396	Cogwheel rigidity	0	ATP6AP2 CL E G H	10159	18305	ORPHA:363654	X-linked parkinsonism-spasticity syndrome	HP:0040281 - Very frequent	36
HP:0002396	HP:0002396	Cogwheel rigidity	0	CP CL E G H	1356	2295	OMIM:604290	ACERULOPLASMINEMIA	.	115
HP:0002396	HP:0002396	Cogwheel rigidity	0	DAB1 CL E G H	1600	2661	ORPHA:363710	Spinocerebellar ataxia type 37	HP:0040281 - Very frequent	4
HP:0002396	HP:0002396	Cogwheel rigidity	0	FRRS1L CL E G H	23732	1362	OMIM:616981	Epileptic encephalopathy, early infantile, 37		4
HP:0002396	HP:0002396	Cogwheel rigidity	0	GABRA1 CL E G H	2554	4075	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	134
HP:0002396	HP:0002396	Cogwheel rigidity	0	GABRG2 CL E G H	2566	4087	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	139
HP:0002396	HP:0002396	Cogwheel rigidity	0	GCH1 CL E G H	2643	4193	OMIM:128230	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia		86
HP:0002396	HP:0002396	Cogwheel rigidity	0	KCNA4 CL E G H	3739	6222	OMIM:618284	Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum	.
HP:0002396	HP:0002396	Cogwheel rigidity	0	KCND3 CL E G H	3752	6239	OMIM:607346	Spinocerebellar ataxia 19	HP:0040283 - Occasional	35
HP:0002396	HP:0002396	Cogwheel rigidity	0	KCND3 CL E G H	3752	6239	ORPHA:98772	Spinocerebellar ataxia type 19/22	HP:0040283 - Occasional	35
HP:0002396	HP:0002396	Cogwheel rigidity	0	KCNN2 CL E G H	3781	6291	OMIM:619725	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0002396	HP:0002396	Cogwheel rigidity	0	MME CL E G H	4311	7154	ORPHA:497764	Spinocerebellar ataxia type 43	HP:0040282 - Frequent	18
HP:0002396	HP:0002396	Cogwheel rigidity	0	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040283 - Occasional	7
HP:0002396	HP:0002396	Cogwheel rigidity	0	PCDH19 CL E G H	57526	14270	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	225
HP:0002396	HP:0002396	Cogwheel rigidity	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	464
HP:0002396	HP:0002396	Cogwheel rigidity	0	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040283 - Occasional	464
HP:0002396	HP:0002396	Cogwheel rigidity	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	45
HP:0002396	HP:0002396	Cogwheel rigidity	0	RAB39B CL E G H	116442	16499	ORPHA:2379	Early-onset parkinsonism-intellectual disability syndrome	HP:0040281 - Very frequent	34
HP:0002396	HP:0002396	Cogwheel rigidity	0	RAB39B CL E G H	116442	16499	OMIM:311510	Waisman syndrome	.	34
HP:0002396	HP:0002396	Cogwheel rigidity	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	125
HP:0002396	HP:0002396	Cogwheel rigidity	0	SCN1A CL E G H	6323	10585	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	1053
HP:0002396	HP:0002396	Cogwheel rigidity	0	SCN1B CL E G H	6324	10586	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	126
HP:0002396	HP:0002396	Cogwheel rigidity	0	SCN2A CL E G H	6326	10588	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	427
HP:0002396	HP:0002396	Cogwheel rigidity	0	SCN9A CL E G H	6335	10597	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	318
HP:0002396	HP:0002396	Cogwheel rigidity	0	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)		110
HP:0002396	HP:0002396	Cogwheel rigidity	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	68
HP:0002396	HP:0002396	Cogwheel rigidity	0	SLC6A3 CL E G H	6531	11049	OMIM:613135	Parkinsonism-Dystonia, infantile, 1		13
HP:0002396	HP:0002396	Cogwheel rigidity	0	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040283 - Occasional	103
HP:0002396	HP:0002396	Cogwheel rigidity	0	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21	.	9
HP:0002396	HP:0002396	Cogwheel rigidity	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	113

Genes (29) :ADAR ATP6 ATP6AP2 CP DAB1 FRRS1L GABRA1 GABRG2 GCH1 KCNA4 KCND3 KCNN2 MME NUP62 PCDH19 POLG POLG2 RAB39B RRM2B SCN1A SCN1B SCN2A SCN9A SLC19A3 SLC25A4 SLC6A3 TK2 TMEM240 TWNK

Diseases (20) :ORPHA:225154 OMIM:300911 ORPHA:363654 OMIM:604290 ORPHA:363710 OMIM:616981 ORPHA:33069 OMIM:128230 OMIM:618284 OMIM:607346 ORPHA:98772 OMIM:619725 ORPHA:497764 ORPHA:254892 ORPHA:254886 ORPHA:2379 OMIM:311510 OMIM:607483 OMIM:613135 OMIM:607454

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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