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:
Diminished movement (HP:0002374)

..Starting node
..Hypokinesia (HP:0002375)

Term ID:

2375

Name:

Hypokinesia

Synonym:

Decreased muscle movement; Decreased spontaneous movement; Decreased spontaneous movements

Definition:

Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency.

Comments:

Reference:

HP:0002375

Genes and Diseases:

Child Nodes:

Sister Nodes:

Akinesia (HP:0002304)

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:0002375	HP:0002375	Hypokinesia	0	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent	96
HP:0002375	HP:0002375	Hypokinesia	0	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	96
HP:0002375	HP:0002375	Hypokinesia	0	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	96
HP:0002375	HP:0002375	Hypokinesia	0	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6	.	60
HP:0002375	HP:0002375	Hypokinesia	0	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy	HP:0040282 - Frequent	60
HP:0002375	HP:0002375	Hypokinesia	0	ALG11 CL E G H	440138	32456	ORPHA:280071	ALG11-CDG	HP:0040283 - Occasional	41
HP:0002375	HP:0002375	Hypokinesia	0	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome		100
HP:0002375	HP:0002375	Hypokinesia	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease		315
HP:0002375	HP:0002375	Hypokinesia	0	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	35
HP:0002375	HP:0002375	Hypokinesia	0	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56		1
HP:0002375	HP:0002375	Hypokinesia	0	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	91
HP:0002375	HP:0002375	Hypokinesia	0	DPM2 CL E G H	8818	3006	OMIM:615042	Congenital disorder of glycosylation, type Iu	.	26
HP:0002375	HP:0002375	Hypokinesia	0	FRRS1L CL E G H	23732	1362	OMIM:616981	Epileptic encephalopathy, early infantile, 37		4
HP:0002375	HP:0002375	Hypokinesia	0	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal	.
HP:0002375	HP:0002375	Hypokinesia	0	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1		85
HP:0002375	HP:0002375	Hypokinesia	0	GLRA1 CL E G H	2741	4326	OMIM:149400	Hyperekplexia 1	.	63
HP:0002375	HP:0002375	Hypokinesia	0	GPHN CL E G H	10243	15465	OMIM:149400	Hyperekplexia 1	.	18
HP:0002375	HP:0002375	Hypokinesia	0	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease	HP:0040282 - Frequent	12
HP:0002375	HP:0002375	Hypokinesia	0	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	28
HP:0002375	HP:0002375	Hypokinesia	0	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent	13
HP:0002375	HP:0002375	Hypokinesia	0	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	13
HP:0002375	HP:0002375	Hypokinesia	0	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	13
HP:0002375	HP:0002375	Hypokinesia	0	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040281 - Very frequent	411
HP:0002375	HP:0002375	Hypokinesia	0	LAMP2 CL E G H	3920	6501	OMIM:300257	Danon disease	.	211
HP:0002375	HP:0002375	Hypokinesia	0	LGI3 CL E G H	203190	18711	OMIM:620007
HP:0002375	HP:0002375	Hypokinesia	0	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	11
HP:0002375	HP:0002375	Hypokinesia	0	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	11
HP:0002375	HP:0002375	Hypokinesia	0	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2	.	134
HP:0002375	HP:0002375	Hypokinesia	0	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2	.	60
HP:0002375	HP:0002375	Hypokinesia	0	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked	.	185
HP:0002375	HP:0002375	Hypokinesia	0	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	72
HP:0002375	HP:0002375	Hypokinesia	0	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent
HP:0002375	HP:0002375	Hypokinesia	0	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent	745
HP:0002375	HP:0002375	Hypokinesia	0	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	745
HP:0002375	HP:0002375	Hypokinesia	0	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	745
HP:0002375	HP:0002375	Hypokinesia	0	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent
HP:0002375	HP:0002375	Hypokinesia	0	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type	.	1
HP:0002375	HP:0002375	Hypokinesia	0	PDE8B CL E G H	8622	8794	OMIM:609161	Striatal degeneration, autosomal dominant	.	75
HP:0002375	HP:0002375	Hypokinesia	0	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0002375	HP:0002375	Hypokinesia	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	464
HP:0002375	HP:0002375	Hypokinesia	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	45
HP:0002375	HP:0002375	Hypokinesia	0	PPP2R2B CL E G H	5521	9305	ORPHA:98762	Spinocerebellar ataxia type 12	HP:0040283 - Occasional	5
HP:0002375	HP:0002375	Hypokinesia	0	PRNP CL E G H	5621	9449	ORPHA:157941	Huntington disease-like 1	HP:0040283 - Occasional	69
HP:0002375	HP:0002375	Hypokinesia	0	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	73
HP:0002375	HP:0002375	Hypokinesia	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	125
HP:0002375	HP:0002375	Hypokinesia	0	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	2
HP:0002375	HP:0002375	Hypokinesia	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	68
HP:0002375	HP:0002375	Hypokinesia	0	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease	HP:0040282 - Frequent	1
HP:0002375	HP:0002375	Hypokinesia	0	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2		5
HP:0002375	HP:0002375	Hypokinesia	0	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2	.	47
HP:0002375	HP:0002375	Hypokinesia	0	SLC6A3 CL E G H	6531	11049	ORPHA:238455	Infantile dystonia-parkinsonism	HP:0040282 - Frequent	13
HP:0002375	HP:0002375	Hypokinesia	0	SNCA CL E G H	6622	11138	OMIM:168601	Parkinson disease 1, autosomal dominant	.	65
HP:0002375	HP:0002375	Hypokinesia	0	TH CL E G H	7054	11782	ORPHA:101150	Autosomal recessive dopa-responsive dystonia	HP:0040282 - Frequent	80
HP:0002375	HP:0002375	Hypokinesia	0	TH CL E G H	7054	11782	OMIM:605407	Segawa syndrome, autosomal recessive	.	80
HP:0002375	HP:0002375	Hypokinesia	0	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	54
HP:0002375	HP:0002375	Hypokinesia	0	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent	108
HP:0002375	HP:0002375	Hypokinesia	0	TSPOAP1 CL E G H	9256	16831	ORPHA:101150	Autosomal recessive dopa-responsive dystonia	HP:0040282 - Frequent	2
HP:0002375	HP:0002375	Hypokinesia	0	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	106
HP:0002375	HP:0002375	Hypokinesia	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	113
HP:0002375	HP:0002375	Hypokinesia	0	WWOX CL E G H	51741	12799	OMIM:616211	Epileptic encephalopathy, early infantile, 28	.	149
HP:0002375	HP:0033414	Lower extremity hypokinesia	1	CL E G H
HP:0002375	HP:0033413	Upper extremity hypokinesia	1	CL E G H

Genes (51) :ACTA1 AIFM1 ALG11 ATP13A2 ATP7B CFL2 CLTC DOK7 DPM2 FRRS1L GBA1 GFM1 GLRA1 GPHN HTT KLHL40 KLHL41 LAMA2 LAMP2 LGI3 LMOD3 MPZ MRPS16 MTM1 MUSK MYOD1 NEB NUP88 PAM16 PDE8B PET117 POLG POLG2 PPP2R2B PRNP RAPSN RRM2B SLC18A3 SLC25A4 SLC2A3 SLC39A14 SLC52A2 SLC6A3 SNCA TH TPM2 TPM3 TSPOAP1 TUBA1A TWNK WWOX

Diseases (35) :ORPHA:171433 ORPHA:171430 ORPHA:171436 OMIM:300816 ORPHA:238329 ORPHA:280071 OMIM:606693 OMIM:277900 OMIM:617854 ORPHA:994 OMIM:615042 OMIM:616981 OMIM:608013 OMIM:609060 OMIM:149400 ORPHA:399 ORPHA:258 OMIM:300257 OMIM:620007 OMIM:618184 OMIM:610498 OMIM:310400 OMIM:613320 OMIM:609161 OMIM:619063 ORPHA:254892 ORPHA:98762 ORPHA:157941 OMIM:617013 OMIM:614707 ORPHA:238455 OMIM:168601 ORPHA:101150 OMIM:605407 OMIM:616211

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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