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
..Akinesia (HP:0002304)

Term ID:

2304

Name:

Akinesia

Synonym:

Definition:

Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily.

Comments:

Reference:

HP:0002304

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypokinesia (HP:0002375)

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:0002304	HP:0002304	Akinesia	0	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome	.	100
HP:0002304	HP:0002304	Akinesia	0	CHRNA1 CL E G H	1134	1955	OMIM:253290	Multiple pterygium syndrome, Lethal type	.	74
HP:0002304	HP:0002304	Akinesia	0	CHRND CL E G H	1144	1965	OMIM:253290	Multiple pterygium syndrome, Lethal type	.	88
HP:0002304	HP:0002304	Akinesia	0	CHRNG CL E G H	1146	1967	OMIM:253290	Multiple pterygium syndrome, Lethal type	.	68
HP:0002304	HP:0002304	Akinesia	0	CNTN1 CL E G H	1272	2171	OMIM:612540	Myopathy, congenital, compton-north	.	40
HP:0002304	HP:0002304	Akinesia	0	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia	HP:0040283 - Occasional	115
HP:0002304	HP:0002304	Akinesia	0	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome		86
HP:0002304	HP:0002304	Akinesia	0	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040282 - Frequent	2
HP:0002304	HP:0002304	Akinesia	0	DNAJC6 CL E G H	9829	15469	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040282 - Frequent	6
HP:0002304	HP:0002304	Akinesia	0	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	91
HP:0002304	HP:0002304	Akinesia	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040284 - Very rare	38
HP:0002304	HP:0002304	Akinesia	0	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040282 - Frequent	2
HP:0002304	HP:0002304	Akinesia	0	ERBB3 CL E G H	2065	3431	OMIM:607598	Lethal congenital contracture syndrome 2	.	12
HP:0002304	HP:0002304	Akinesia	0	FGF14 CL E G H	2259	3671	ORPHA:98764	Spinocerebellar ataxia type 27	HP:0040284 - Very rare	47
HP:0002304	HP:0002304	Akinesia	0	FLVCR2 CL E G H	55640	20105	OMIM:225790	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	.	47
HP:0002304	HP:0002304	Akinesia	0	FXR1 CL E G H	8087	4023	OMIM:618822	MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0002304	HP:0002304	Akinesia	0	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal	.
HP:0002304	HP:0002304	Akinesia	0	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040282 - Frequent
HP:0002304	HP:0002304	Akinesia	0	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040282 - Frequent	8
HP:0002304	HP:0002304	Akinesia	0	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0002304	HP:0002304	Akinesia	0	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040282 - Frequent	221
HP:0002304	HP:0002304	Akinesia	0	MAPT CL E G H	4137	6893	ORPHA:240071	Classic progressive supranuclear palsy syndrome	HP:0040283 - Occasional	140
HP:0002304	HP:0002304	Akinesia	0	MAPT CL E G H	4137	6893	ORPHA:240094	Progressive supranuclear palsy-pure akinesia with gait freezing syndrome	HP:0040280 - Obligate	140
HP:0002304	HP:0002304	Akinesia	0	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1	.	140
HP:0002304	HP:0002304	Akinesia	0	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	72
HP:0002304	HP:0002304	Akinesia	0	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent
HP:0002304	HP:0002304	Akinesia	0	NEB CL E G H	4703	7720	OMIM:619334	ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6		745
HP:0002304	HP:0002304	Akinesia	0	NR4A2 CL E G H	4929	7981	OMIM:619911			27
HP:0002304	HP:0002304	Akinesia	0	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent
HP:0002304	HP:0002304	Akinesia	0	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1	.	55
HP:0002304	HP:0002304	Akinesia	0	PODXL CL E G H	5420	9171	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040282 - Frequent	6
HP:0002304	HP:0002304	Akinesia	0	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	73
HP:0002304	HP:0002304	Akinesia	0	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	2
HP:0002304	HP:0002304	Akinesia	0	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040282 - Frequent	65
HP:0002304	HP:0002304	Akinesia	0	SYNJ1 CL E G H	8867	11503	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040282 - Frequent	9
HP:0002304	HP:0002304	Akinesia	0	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21	.	9
HP:0002304	HP:0002304	Akinesia	0	TMEM240 CL E G H	339453	25186	ORPHA:98773	Spinocerebellar ataxia type 21	HP:0040282 - Frequent	9
HP:0002304	HP:0002304	Akinesia	0	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5		47
HP:0002304	HP:0002304	Akinesia	0	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	106
HP:0002304	HP:0002304	Akinesia	0	VPS13C CL E G H	54832	23594	OMIM:616840	Parkinson disease 23, autosomal recessive early-onset	.	8
HP:0002304	HP:0002304	Akinesia	0	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040282 - Frequent	37
HP:0002304	HP:0002304	Akinesia	0	VPS35 CL E G H	55737	13487	OMIM:614203	Parkinson disease 17	.	37
HP:0002304	HP:0033412	Upper extremity akinesia	1	CL E G H
HP:0002304	HP:0033411	Lower extremity akinesia	1	CL E G H

Genes (37) :ATP13A2 CHRNA1 CHRND CHRNG CNTN1 CP DCTN1 DNAJC13 DNAJC6 DOK7 DPAGT1 EIF4G1 ERBB3 FGF14 FLVCR2 FXR1 GBA1 GIGYF2 KARS1 LRRK2 MAPT MUSK MYOD1 NEB NR4A2 NUP88 PANK2 PODXL RAPSN SLC18A3 SNCA SYNJ1 TMEM240 TOR1A TUBA1A VPS13C VPS35

Diseases (26) :OMIM:606693 OMIM:253290 OMIM:612540 ORPHA:48818 OMIM:168605 ORPHA:411602 ORPHA:391411 ORPHA:994 ORPHA:86309 OMIM:607598 ORPHA:98764 OMIM:225790 OMIM:618822 OMIM:608013 OMIM:619147 ORPHA:240071 ORPHA:240094 OMIM:601104 OMIM:619334 OMIM:619911 OMIM:234200 OMIM:607454 ORPHA:98773 OMIM:618947 OMIM:616840 OMIM:614203

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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