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	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0002304	HP:0002304	Akinesia	0	ATP13A2 CL E G H	23400	606693	Parkinson disease 9	606693	C1847640	OMIM	1	738	30213	610513
HP:0002304	HP:0002304	Akinesia	0	CHRNA1 CL E G H	1134	253290	Lethal multiple pterygium syndrome	253290	C1854678	OMIM	1	398	1955	100690
HP:0002304	HP:0002304	Akinesia	0	CHRND CL E G H	1144	253290	Lethal multiple pterygium syndrome	253290	C1854678	OMIM	1	408	1965	100720
HP:0002304	HP:0002304	Akinesia	0	CHRNG CL E G H	1146	253290	Lethal multiple pterygium syndrome	253290	C1854678	OMIM	1	220	1967	100730
HP:0002304	HP:0002304	Akinesia	0	CNTN1 CL E G H	1272	612540	Myopathy, congenital, compton-north	612540	C2675527	OMIM	1	476	2171	600016
HP:0002304	HP:0002304	Akinesia	0	DNAJC13 CL E G H	23317	411602				ORPHA	1	165	30343	614334
HP:0002304	HP:0002304	Akinesia	0	DNAJC6 CL E G H	9829	391411				ORPHA	1	235	15469	608375
HP:0002304	HP:0002304	Akinesia	0	DOK7 CL E G H	285489	994				ORPHA	1	840	26594	610285
HP:0002304	HP:0002304	Akinesia	0	EIF4G1 CL E G H	1981	411602				ORPHA	1	94	3296	600495
HP:0002304	HP:0002304	Akinesia	0	ERBB3 CL E G H	2065	607598	Lethal congenital contracture syndrome 2	607598	C1843478	OMIM	1	97	3431	190151
HP:0002304	HP:0002304	Akinesia	0	FLVCR2 CL E G H	55640	225790	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	225790	C1856972	OMIM	1	141	20105	610865
HP:0002304	HP:0002304	Akinesia	0	GBA CL E G H	2629	411602				ORPHA	1		4177	606463
HP:0002304	HP:0002304	Akinesia	0	GBA CL E G H	2629	608013	Gaucher disease, perinatal lethal	608013	C1842704	OMIM	1		4177	606463
HP:0002304	HP:0002304	Akinesia	0	GIGYF2 CL E G H	26058	411602				ORPHA	1	255	11960	612003
HP:0002304	HP:0002304	Akinesia	0	LRRK2 CL E G H	120892	411602				ORPHA	1	2226	18618	609007
HP:0002304	HP:0002304	Akinesia	0	MAPT CL E G H	4137	601104	Progressive supranuclear ophthalmoplegia	601104	C0038868	OMIM	1	514	6893	157140
HP:0002304	HP:0002304	Akinesia	0	MUSK CL E G H	4593	994				ORPHA	1	496	7525	601296
HP:0002304	HP:0002304	Akinesia	0	MYOD1 CL E G H	4654	994				ORPHA	1	35	7611	159970
HP:0002304	HP:0002304	Akinesia	0	PANK2 CL E G H	80025	234200	Pigmentary pallidal degeneration	234200	C0018523	OMIM	1	371	15894	606157
HP:0002304	HP:0002304	Akinesia	0	PODXL CL E G H	5420	391411				ORPHA	1	134	9171	602632
HP:0002304	HP:0002304	Akinesia	0	RAPSN CL E G H	5913	994				ORPHA	1	433	9863	601592
HP:0002304	HP:0002304	Akinesia	0	SNCA CL E G H	6622	411602				ORPHA	1	177	11138	163890
HP:0002304	HP:0002304	Akinesia	0	SYNJ1 CL E G H	8867	391411				ORPHA	1	1046	11503	604297
HP:0002304	HP:0002304	Akinesia	0	TMEM240 CL E G H	339453	98773				ORPHA	1	192	25186	616101
HP:0002304	HP:0002304	Akinesia	0	TMEM240 CL E G H	339453	607454	Spinocerebellar ataxia 21	607454	C1843891	OMIM	1	192	25186	616101
HP:0002304	HP:0002304	Akinesia	0	VPS13C CL E G H	54832	616840	Parkinson disease 23, autosomal recessive early-onset	616840	C4225186	OMIM	1	521	23594	608879
HP:0002304	HP:0002304	Akinesia	0	VPS35 CL E G H	55737	411602				ORPHA	1	184	13487	601501
HP:0002304	HP:0033412	Upper extremity akinesia	1	ATP13A2 CL E G H	23400	606693	Parkinson disease 9	606693	C1847640	OMIM	1	738	30213	610513
HP:0002304	HP:0033411	Lower extremity akinesia	1	ATP13A2 CL E G H	23400	606693	Parkinson disease 9	606693	C1847640	OMIM	1	738	30213	610513
HP:0002304	HP:0033412	Upper extremity akinesia	1	CHRNA1 CL E G H	1134	253290	Lethal multiple pterygium syndrome	253290	C1854678	OMIM	1	398	1955	100690
HP:0002304	HP:0033411	Lower extremity akinesia	1	CHRNA1 CL E G H	1134	253290	Lethal multiple pterygium syndrome	253290	C1854678	OMIM	1	398	1955	100690
HP:0002304	HP:0033412	Upper extremity akinesia	1	CHRND CL E G H	1144	253290	Lethal multiple pterygium syndrome	253290	C1854678	OMIM	1	408	1965	100720
HP:0002304	HP:0033411	Lower extremity akinesia	1	CHRND CL E G H	1144	253290	Lethal multiple pterygium syndrome	253290	C1854678	OMIM	1	408	1965	100720
HP:0002304	HP:0033411	Lower extremity akinesia	1	CHRNG CL E G H	1146	253290	Lethal multiple pterygium syndrome	253290	C1854678	OMIM	1	220	1967	100730
HP:0002304	HP:0033412	Upper extremity akinesia	1	CHRNG CL E G H	1146	253290	Lethal multiple pterygium syndrome	253290	C1854678	OMIM	1	220	1967	100730
HP:0002304	HP:0033412	Upper extremity akinesia	1	CNTN1 CL E G H	1272	612540	Myopathy, congenital, compton-north	612540	C2675527	OMIM	1	476	2171	600016
HP:0002304	HP:0033411	Lower extremity akinesia	1	CNTN1 CL E G H	1272	612540	Myopathy, congenital, compton-north	612540	C2675527	OMIM	1	476	2171	600016
HP:0002304	HP:0033412	Upper extremity akinesia	1	DNAJC13 CL E G H	23317	411602				ORPHA	1	165	30343	614334
HP:0002304	HP:0033411	Lower extremity akinesia	1	DNAJC13 CL E G H	23317	411602				ORPHA	1	165	30343	614334
HP:0002304	HP:0033412	Upper extremity akinesia	1	DNAJC6 CL E G H	9829	391411				ORPHA	1	235	15469	608375
HP:0002304	HP:0033411	Lower extremity akinesia	1	DNAJC6 CL E G H	9829	391411				ORPHA	1	235	15469	608375
HP:0002304	HP:0033411	Lower extremity akinesia	1	DOK7 CL E G H	285489	994				ORPHA	1	840	26594	610285
HP:0002304	HP:0033412	Upper extremity akinesia	1	DOK7 CL E G H	285489	994				ORPHA	1	840	26594	610285
HP:0002304	HP:0033412	Upper extremity akinesia	1	EIF4G1 CL E G H	1981	411602				ORPHA	1	94	3296	600495
HP:0002304	HP:0033411	Lower extremity akinesia	1	EIF4G1 CL E G H	1981	411602				ORPHA	1	94	3296	600495
HP:0002304	HP:0033411	Lower extremity akinesia	1	ERBB3 CL E G H	2065	607598	Lethal congenital contracture syndrome 2	607598	C1843478	OMIM	1	97	3431	190151
HP:0002304	HP:0033412	Upper extremity akinesia	1	ERBB3 CL E G H	2065	607598	Lethal congenital contracture syndrome 2	607598	C1843478	OMIM	1	97	3431	190151
HP:0002304	HP:0033411	Lower extremity akinesia	1	FLVCR2 CL E G H	55640	225790	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	225790	C1856972	OMIM	1	141	20105	610865
HP:0002304	HP:0033412	Upper extremity akinesia	1	FLVCR2 CL E G H	55640	225790	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	225790	C1856972	OMIM	1	141	20105	610865
HP:0002304	HP:0033412	Upper extremity akinesia	1	GBA CL E G H	2629	411602				ORPHA	1		4177	606463
HP:0002304	HP:0033411	Lower extremity akinesia	1	GBA CL E G H	2629	411602				ORPHA	1		4177	606463
HP:0002304	HP:0033412	Upper extremity akinesia	1	GBA CL E G H	2629	608013	Gaucher disease, perinatal lethal	608013	C1842704	OMIM	1		4177	606463
HP:0002304	HP:0033411	Lower extremity akinesia	1	GBA CL E G H	2629	608013	Gaucher disease, perinatal lethal	608013	C1842704	OMIM	1		4177	606463
HP:0002304	HP:0033411	Lower extremity akinesia	1	GIGYF2 CL E G H	26058	411602				ORPHA	1	255	11960	612003
HP:0002304	HP:0033412	Upper extremity akinesia	1	GIGYF2 CL E G H	26058	411602				ORPHA	1	255	11960	612003
HP:0002304	HP:0033412	Upper extremity akinesia	1	LRRK2 CL E G H	120892	411602				ORPHA	1	2226	18618	609007
HP:0002304	HP:0033411	Lower extremity akinesia	1	LRRK2 CL E G H	120892	411602				ORPHA	1	2226	18618	609007
HP:0002304	HP:0033412	Upper extremity akinesia	1	MAPT CL E G H	4137	601104	Progressive supranuclear ophthalmoplegia	601104	C0038868	OMIM	1	514	6893	157140
HP:0002304	HP:0033411	Lower extremity akinesia	1	MAPT CL E G H	4137	601104	Progressive supranuclear ophthalmoplegia	601104	C0038868	OMIM	1	514	6893	157140
HP:0002304	HP:0033412	Upper extremity akinesia	1	MUSK CL E G H	4593	994				ORPHA	1	496	7525	601296
HP:0002304	HP:0033411	Lower extremity akinesia	1	MUSK CL E G H	4593	994				ORPHA	1	496	7525	601296
HP:0002304	HP:0033412	Upper extremity akinesia	1	MYOD1 CL E G H	4654	994				ORPHA	1	35	7611	159970
HP:0002304	HP:0033411	Lower extremity akinesia	1	MYOD1 CL E G H	4654	994				ORPHA	1	35	7611	159970
HP:0002304	HP:0033412	Upper extremity akinesia	1	PANK2 CL E G H	80025	234200	Pigmentary pallidal degeneration	234200	C0018523	OMIM	1	371	15894	606157
HP:0002304	HP:0033411	Lower extremity akinesia	1	PANK2 CL E G H	80025	234200	Pigmentary pallidal degeneration	234200	C0018523	OMIM	1	371	15894	606157
HP:0002304	HP:0033412	Upper extremity akinesia	1	PODXL CL E G H	5420	391411				ORPHA	1	134	9171	602632
HP:0002304	HP:0033411	Lower extremity akinesia	1	PODXL CL E G H	5420	391411				ORPHA	1	134	9171	602632
HP:0002304	HP:0033412	Upper extremity akinesia	1	RAPSN CL E G H	5913	994				ORPHA	1	433	9863	601592
HP:0002304	HP:0033411	Lower extremity akinesia	1	RAPSN CL E G H	5913	994				ORPHA	1	433	9863	601592
HP:0002304	HP:0033412	Upper extremity akinesia	1	SNCA CL E G H	6622	411602				ORPHA	1	177	11138	163890
HP:0002304	HP:0033411	Lower extremity akinesia	1	SNCA CL E G H	6622	411602				ORPHA	1	177	11138	163890
HP:0002304	HP:0033411	Lower extremity akinesia	1	SYNJ1 CL E G H	8867	391411				ORPHA	1	1046	11503	604297
HP:0002304	HP:0033412	Upper extremity akinesia	1	SYNJ1 CL E G H	8867	391411				ORPHA	1	1046	11503	604297
HP:0002304	HP:0033412	Upper extremity akinesia	1	TMEM240 CL E G H	339453	98773				ORPHA	1	192	25186	616101
HP:0002304	HP:0033411	Lower extremity akinesia	1	TMEM240 CL E G H	339453	98773				ORPHA	1	192	25186	616101
HP:0002304	HP:0033412	Upper extremity akinesia	1	TMEM240 CL E G H	339453	607454	Spinocerebellar ataxia 21	607454	C1843891	OMIM	1	192	25186	616101
HP:0002304	HP:0033411	Lower extremity akinesia	1	TMEM240 CL E G H	339453	607454	Spinocerebellar ataxia 21	607454	C1843891	OMIM	1	192	25186	616101
HP:0002304	HP:0033412	Upper extremity akinesia	1	VPS13C CL E G H	54832	616840	Parkinson disease 23, autosomal recessive early-onset	616840	C4225186	OMIM	1	521	23594	608879
HP:0002304	HP:0033411	Lower extremity akinesia	1	VPS13C CL E G H	54832	616840	Parkinson disease 23, autosomal recessive early-onset	616840	C4225186	OMIM	1	521	23594	608879
HP:0002304	HP:0033412	Upper extremity akinesia	1	VPS35 CL E G H	55737	411602				ORPHA	1	184	13487	601501
HP:0002304	HP:0033411	Lower extremity akinesia	1	VPS35 CL E G H	55737	411602				ORPHA	1	184	13487	601501
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002304	HP:0002304	Akinesia	0	FGF14 CL E G H	2259	98764				ORPHA	0	208	3671	601515
HP:0002304	HP:0033411	Lower extremity akinesia	1	FGF14 CL E G H	2259	98764				ORPHA	0	208	3671	601515
HP:0002304	HP:0033412	Upper extremity akinesia	1	FGF14 CL E G H	2259	98764				ORPHA	0	208	3671	601515

Genes (26) :ATP13A2 CHRNA1 CHRND CHRNG CNTN1 DNAJC13 DNAJC6 DOK7 EIF4G1 ERBB3 FGF14 FLVCR2 GBA GIGYF2 LRRK2 MAPT MUSK MYOD1 PANK2 PODXL RAPSN SNCA SYNJ1 TMEM240 VPS13C VPS35

Diseases (15) :606693 253290 612540 411602 391411 994 607598 98764 225790 608013 601104 234200 98773 607454 616840

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.

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