Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Abnormality of extrapyramidal motor function (HP:0002071)

..Starting node
..Bradykinesia (HP:0002067)

Term ID:

2067

Name:

Bradykinesia

Synonym:

Slow movements; Slowness of movements

Definition:

Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement).

Comments:

Reference:

HP:0002067

Genes and Diseases:

Child Nodes:

Sister Nodes:

Athetoid cerebral palsy (HP:0011445)

Exaggerated startle response (HP:0002267)

Extrapyramidal dyskinesia (HP:0007308)

Extrapyramidal muscular rigidity (HP:0007076)

Parkinsonism (HP:0001300)

Progressive extrapyramidal movement disorder (HP:0007153)

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:0002067	HP:0002067	Bradykinesia	0	ACTA1 CL E G H	58	171439				ORPHA	1	506	129	102610
HP:0002067	HP:0002067	Bradykinesia	0	ATP13A2 CL E G H	23400	314632				ORPHA	1	974	30213	610513
HP:0002067	HP:0002067	Bradykinesia	0	ATP1A3 CL E G H	478	71517				ORPHA	1	993	801	182350
HP:0002067	HP:0002067	Bradykinesia	0	ATP1A3 CL E G H	478	128235	Dystonia 12	128235	C1868681	OMIM	1	993	801	182350
HP:0002067	HP:0002067	Bradykinesia	0	ATP6AP2 CL E G H	10159	363654				ORPHA	1	340	18305	300556
HP:0002067	HP:0002067	Bradykinesia	0	ATP6AP2 CL E G H	10159	300423	Mental retardation, X-linked, syndromic, Hedera type	300423	C1845543	OMIM	1	340	18305	300556
HP:0002067	HP:0002067	Bradykinesia	0	ATP6AP2 CL E G H	10159	300911	Parkinsonism with spasticity, X-linked	300911	C3806722	OMIM	1	340	18305	300556
HP:0002067	HP:0002067	Bradykinesia	0	ATXN1 CL E G H	6310	98755				ORPHA	1	120	10548	601556
HP:0002067	HP:0002067	Bradykinesia	0	ATXN2 CL E G H	6311	183090	Spinocerebellar ataxia 2	183090	C0752121	OMIM	1	115	10555	601517
HP:0002067	HP:0002067	Bradykinesia	0	ATXN3 CL E G H	4287	109150	Azorean disease	109150	C0024408	OMIM	1	65	7106	607047
HP:0002067	HP:0002067	Bradykinesia	0	ATXN8 CL E G H	724066	98760				ORPHA	1	2	32925	613289
HP:0002067	HP:0002067	Bradykinesia	0	ATXN8OS CL E G H	6315	98760				ORPHA	1	87	10561	603680
HP:0002067	HP:0002067	Bradykinesia	0	C19orf12 CL E G H	83636	289560				ORPHA	1	307	25443	614297
HP:0002067	HP:0002067	Bradykinesia	0	CHCHD2 CL E G H	51142	616710	Parkinson disease 22, autosomal dominant	616710	C4225238	OMIM	1	95	21645	616244
HP:0002067	HP:0002067	Bradykinesia	0	COASY CL E G H	80347	615643	Neurodegeneration with brain iron accumulation 6	615643	C3810230	OMIM	1	281	29932	609855
HP:0002067	HP:0002067	Bradykinesia	0	COQ2 CL E G H	27235	98933				ORPHA	1	346	25223	609825
HP:0002067	HP:0002067	Bradykinesia	0	CSF1R CL E G H	1436	221820	Hereditary diffuse leukoencephalopathy with spheroids	221820	C3711381	OMIM	1	696	2433	164770
HP:0002067	HP:0002067	Bradykinesia	0	DCTN1 CL E G H	1639	168605	Perry syndrome	168605	C1868594	OMIM	1	1084	2711	601143
HP:0002067	HP:0002067	Bradykinesia	0	DHDDS CL E G H	79947	617836	DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES	617836	CN769090	OMIM	1	434	20603	608172
HP:0002067	HP:0002067	Bradykinesia	0	DNAJC12 CL E G H	56521	617384	Hyperphenylalaninemia, mild, non-bh4-deficient	617384	C4479270	OMIM	1	115	28908	606060
HP:0002067	HP:0002067	Bradykinesia	0	DNAJC6 CL E G H	9829	391411				ORPHA	1	310	15469	608375
HP:0002067	HP:0002067	Bradykinesia	0	DNAJC6 CL E G H	9829	615528	Parkinson disease 19a, juvenile-onset	615528	C3809811	OMIM	1	310	15469	608375
HP:0002067	HP:0002067	Bradykinesia	0	EARS2 CL E G H	124454	614924	Combined oxidative phosphorylation deficiency 12	614924	C3554079	OMIM	1	336	29419	612799
HP:0002067	HP:0002067	Bradykinesia	0	FBXO7 CL E G H	25793	171695				ORPHA	1	243	13586	605648
HP:0002067	HP:0002067	Bradykinesia	0	FBXO7 CL E G H	25793	260300	Parkinson disease 15	260300	C1850100	OMIM	1	243	13586	605648
HP:0002067	HP:0002067	Bradykinesia	0	FMR1 CL E G H	2332	300623	Fragile X tremor/ataxia syndrome	300623	C1839780	OMIM	1	371	3775	309550
HP:0002067	HP:0002067	Bradykinesia	0	FTL CL E G H	2512	157846				ORPHA	1	185	3999	134790
HP:0002067	HP:0002067	Bradykinesia	0	FTL CL E G H	2512	606159	Neuroferritinopathy	606159	C1853578	OMIM	1	185	3999	134790
HP:0002067	HP:0002067	Bradykinesia	0	HTT CL E G H	3064	248111				ORPHA	1	760	4851	613004
HP:0002067	HP:0002067	Bradykinesia	0	HTT CL E G H	3064	143100	Huntington's chorea	143100	C0020179	OMIM	1	760	4851	613004
HP:0002067	HP:0002067	Bradykinesia	0	HTT CL E G H	3064	617435	Lopes-Maciel-Rodan syndrome	617435	C4479491	OMIM	1	760	4851	613004
HP:0002067	HP:0002067	Bradykinesia	0	JPH3 CL E G H	57338	606438	Huntington disease-like 2	606438	C1847987	OMIM	1	176	14203	605268
HP:0002067	HP:0002067	Bradykinesia	0	KBTBD13 CL E G H	390594	171439				ORPHA	1	530	37227	613727
HP:0002067	HP:0002067	Bradykinesia	0	KLHL41 CL E G H	10324	171439				ORPHA	1	294	16905	607701
HP:0002067	HP:0002067	Bradykinesia	0	MAPT CL E G H	4137	601104	Progressive supranuclear ophthalmoplegia	601104	C0038868	OMIM	1	581	6893	157140
HP:0002067	HP:0002067	Bradykinesia	0	MYPN CL E G H	84665	171439				ORPHA	1	1485	23246	608517
HP:0002067	HP:0002067	Bradykinesia	0	NEB CL E G H	4703	171439				ORPHA	1	8530	7720	161650
HP:0002067	HP:0002067	Bradykinesia	0	NR4A2 CL E G H	4929	168600	Parkinson disease, late-onset	168600	C3160718	OMIM	1	143	7981	601828
HP:0002067	HP:0002067	Bradykinesia	0	PANK2 CL E G H	80025	234200	Pigmentary pallidal degeneration	234200	C0018523	OMIM	1	499	15894	606157
HP:0002067	HP:0002067	Bradykinesia	0	PARK7 CL E G H	11315	606324	Parkinson disease 7	606324	C1853445	OMIM	1	179	16369	602533
HP:0002067	HP:0002067	Bradykinesia	0	PDE8B CL E G H	8622	228169	Autosomal dominant striatal neurodegeneration		C1836694	ORPHA	1	243	8794	603390
HP:0002067	HP:0002067	Bradykinesia	0	PDE8B CL E G H	8622	609161	Striatal degeneration, autosomal dominant 1	609161	C4310808	OMIM	1	243	8794	603390
HP:0002067	HP:0002067	Bradykinesia	0	PDGFB CL E G H	5155	213600	Idiopathic basal ganglia calcification 1	213600	C0393590	OMIM	1	151	8800	190040
HP:0002067	HP:0002067	Bradykinesia	0	PDGFRB CL E G H	5159	213600	Idiopathic basal ganglia calcification 1	213600	C0393590	OMIM	1	531	8804	173410
HP:0002067	HP:0002067	Bradykinesia	0	PINK1 CL E G H	65018	605909	Parkinson disease 6, autosomal recessive early-onset	605909	C1853833	OMIM	1	384	14581	608309
HP:0002067	HP:0002067	Bradykinesia	0	PLA2G6 CL E G H	8398	199351				ORPHA	1	775	9039	603604
HP:0002067	HP:0002067	Bradykinesia	0	PLA2G6 CL E G H	8398	610217	Neurodegeneration with brain iron accumulation 2b	610217	C1857747	OMIM	1	775	9039	603604
HP:0002067	HP:0002067	Bradykinesia	0	PLA2G6 CL E G H	8398	612953	Parkinson disease 14	612953	C2751842	OMIM	1	775	9039	603604
HP:0002067	HP:0002067	Bradykinesia	0	PODXL CL E G H	5420	391411				ORPHA	1	200	9171	602632
HP:0002067	HP:0002067	Bradykinesia	0	POLG CL E G H	5428	254892				ORPHA	1	2324	9179	174763
HP:0002067	HP:0002067	Bradykinesia	0	POLG CL E G H	5428	157640	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1	157640	C1834846	OMIM	1	2324	9179	174763
HP:0002067	HP:0002067	Bradykinesia	0	POLG CL E G H	5428	258450	Cerebellar ataxia infantile with progressive external ophthalmoplegia	258450	C1850303	OMIM	1	2324	9179	174763
HP:0002067	HP:0002067	Bradykinesia	0	POLG2 CL E G H	11232	254892				ORPHA	1	357	9180	604983
HP:0002067	HP:0002067	Bradykinesia	0	PRKAR1B CL E G H	5575	412066				ORPHA	1	245	9390	176911
HP:0002067	HP:0002067	Bradykinesia	0	PRKN CL E G H	5071	600116	Parkinson disease 2	600116	C1868675	OMIM	1	705	8607	602544
HP:0002067	HP:0002067	Bradykinesia	0	PRKRA CL E G H	8575	210571				ORPHA	1	192	9438	603424
HP:0002067	HP:0002067	Bradykinesia	0	PRKRA CL E G H	8575	612067	Dystonia 16	612067	C2677567	OMIM	1	192	9438	603424
HP:0002067	HP:0002067	Bradykinesia	0	PRNP CL E G H	5621	282166				ORPHA	1	191	9449	176640
HP:0002067	HP:0002067	Bradykinesia	0	PRNP CL E G H	5621	137440	Gerstmann-Straussler-Scheinker syndrome	137440	C0017495	OMIM	1	191	9449	176640
HP:0002067	HP:0002067	Bradykinesia	0	PTS CL E G H	5805	261640	6-pyruvoyl-tetrahydropterin synthase deficiency	261640	C0878676	OMIM	1	263	9689	612719
HP:0002067	HP:0002067	Bradykinesia	0	RAB39B CL E G H	116442	311510	Parkinsonism, early onset with mental retardation	311510	C0796195	OMIM	1	320	16499	300774
HP:0002067	HP:0002067	Bradykinesia	0	RRM2B CL E G H	50484	254892				ORPHA	1	354	17296	604712
HP:0002067	HP:0002067	Bradykinesia	0	SLC20A2 CL E G H	6575	213600	Idiopathic basal ganglia calcification 1	213600	C0393590	OMIM	1	337	10947	158378
HP:0002067	HP:0002067	Bradykinesia	0	SLC25A4 CL E G H	291	254892				ORPHA	1	333	10990	103220
HP:0002067	HP:0002067	Bradykinesia	0	SLC30A10 CL E G H	55532	309854				ORPHA	1	275	25355	611146
HP:0002067	HP:0002067	Bradykinesia	0	SLC30A10 CL E G H	55532	613280	Hypermanganesemia with dystonia 1	613280		OMIM	1	275	25355	611146
HP:0002067	HP:0002067	Bradykinesia	0	SLC39A14 CL E G H	23516	617013	Hypermanganesemia with dystonia 2	617013	C4310765	OMIM	1	270	20858	608736
HP:0002067	HP:0002067	Bradykinesia	0	SLC6A3 CL E G H	6531	238455				ORPHA	1	583	11049	126455
HP:0002067	HP:0002067	Bradykinesia	0	SLC6A3 CL E G H	6531	613135	Infantile Parkinsonism-dystonia	613135	C2751067	OMIM	1	583	11049	126455
HP:0002067	HP:0002067	Bradykinesia	0	SNCA CL E G H	6622	171695				ORPHA	1	193	11138	163890
HP:0002067	HP:0002067	Bradykinesia	0	SNCA CL E G H	6622	168601	Parkinson disease 1	168601	C1868595	OMIM	1	193	11138	163890
HP:0002067	HP:0002067	Bradykinesia	0	SNCAIP CL E G H	9627	168600	Parkinson disease, late-onset	168600	C3160718	OMIM	1	160	11139	603779
HP:0002067	HP:0002067	Bradykinesia	0	SPR CL E G H	6697	70594				ORPHA	1	198	11257	182125
HP:0002067	HP:0002067	Bradykinesia	0	SYNJ1 CL E G H	8867	391411				ORPHA	1	1315	11503	604297
HP:0002067	HP:0002067	Bradykinesia	0	SYNJ1 CL E G H	8867	615530	Parkinson disease 20, early-onset	615530	C3809824	OMIM	1	1315	11503	604297
HP:0002067	HP:0002067	Bradykinesia	0	TAF1 CL E G H	6872	53351				ORPHA	1	534	11535	313650
HP:0002067	HP:0002067	Bradykinesia	0	TBP CL E G H	6908	607136	Spinocerebellar ataxia 17	607136	C1846707	OMIM	1	131	11588	600075
HP:0002067	HP:0002067	Bradykinesia	0	TH CL E G H	7054	101150				ORPHA	1	967	11782	191290
HP:0002067	HP:0002067	Bradykinesia	0	TPM2 CL E G H	7169	171439				ORPHA	1	341	12011	190990
HP:0002067	HP:0002067	Bradykinesia	0	TPM3 CL E G H	7170	171439				ORPHA	1	343	12012	191030
HP:0002067	HP:0002067	Bradykinesia	0	TTC19 CL E G H	54902	615157	Mitochondrial complex III deficiency, nuclear type 2	615157	C3554605	OMIM	1	343	26006	613814
HP:0002067	HP:0002067	Bradykinesia	0	TWNK CL E G H	56652	254892				ORPHA	1	450	1160	606075
HP:0002067	HP:0002067	Bradykinesia	0	WDR45 CL E G H	11152	329284				ORPHA	1	587	28912	300526
HP:0002067	HP:0002067	Bradykinesia	0	WDR45 CL E G H	11152	300894	Neurodegeneration with brain iron accumulation 5	300894	C3550973	OMIM	1	587	28912	300526
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002067	HP:0002067	Bradykinesia	0	ATL1 CL E G H	51062	100984				ORPHA	0	517	11231	606439
HP:0002067	HP:0002067	Bradykinesia	0	ATP13A2 CL E G H	23400	306674				ORPHA	0	974	30213	610513
HP:0002067	HP:0002067	Bradykinesia	0	COQ2 CL E G H	27235	227510				ORPHA	0	346	25223	609825
HP:0002067	HP:0002067	Bradykinesia	0	DNAJC13 CL E G H	23317	411602				ORPHA	0	237	30343	614334
HP:0002067	HP:0002067	Bradykinesia	0	EIF4G1 CL E G H	1981	411602				ORPHA	0	147	3296	600495
HP:0002067	HP:0002067	Bradykinesia	0	FMR1 CL E G H	2332	93256				ORPHA	0	371	3775	309550
HP:0002067	HP:0002067	Bradykinesia	0	GBA CL E G H	2629	411602				ORPHA	0		4177	606463
HP:0002067	HP:0002067	Bradykinesia	0	GCH1 CL E G H	2643	98808				ORPHA	0	428	4193	600225
HP:0002067	HP:0002067	Bradykinesia	0	GIGYF2 CL E G H	26058	411602				ORPHA	0	338	11960	612003
HP:0002067	HP:0002067	Bradykinesia	0	KCNC3 CL E G H	3748	98768				ORPHA	0	311	6235	176264
HP:0002067	HP:0002067	Bradykinesia	0	LRRK2 CL E G H	120892	411602				ORPHA	0	2948	18618	609007
HP:0002067	HP:0002067	Bradykinesia	0	LYST CL E G H	1130	167				ORPHA	0	2575	1968	606897
HP:0002067	HP:0002067	Bradykinesia	0	POLG CL E G H	5428	254886				ORPHA	0	2324	9179	174763
HP:0002067	HP:0002067	Bradykinesia	0	PPP2R2B CL E G H	5521	98762				ORPHA	0	71	9305	604325
HP:0002067	HP:0002067	Bradykinesia	0	PRNP CL E G H	5621	157941				ORPHA	0	191	9449	176640
HP:0002067	HP:0002067	Bradykinesia	0	PTS CL E G H	5805	13	Brain malformation		C0266449	ORPHA	0	263	9689	612719
HP:0002067	HP:0002067	Bradykinesia	0	SNCA CL E G H	6622	411602				ORPHA	0	193	11138	163890
HP:0002067	HP:0002067	Bradykinesia	0	TK2 CL E G H	7084	254886				ORPHA	0	442	11831	188250
HP:0002067	HP:0002067	Bradykinesia	0	VPS35 CL E G H	55737	411602				ORPHA	0	228	13487	601501

Genes (77) :ACTA1 ATL1 ATP13A2 ATP1A3 ATP6AP2 ATXN1 ATXN2 ATXN3 ATXN8 ATXN8OS C19ORF12 C19orf12 CHCHD2 COASY COQ2 CSF1R DCTN1 DHDDS DNAJC12 DNAJC13 DNAJC6 EARS2 EIF4G1 FBXO7 FMR1 FTL GBA GCH1 GIGYF2 HTT JPH3 KBTBD13 KCNC3 KLHL41 LRRK2 LYST MAPT MYPN NEB NR4A2 PANK2 PARK7 PDE8B PDGFB PDGFRB PINK1 PLA2G6 PODXL POLG POLG2 PPP2R2B PRKAR1B PRKN PRKRA PRNP PTS RAB39B RRM2B SLC20A2 SLC25A4 SLC30A10 SLC39A14 SLC6A3 SNCA SNCAIP SPR SYNJ1 TAF1 TBP TH TK2 TPM2 TPM3 TTC19 TWNK VPS35 WDR45

Diseases (79) :171439 100984 314632 306674 71517 128235 363654 300423 300911 98755 183090 109150 98760 289560 616710 615643 98933 227510 221820 168605 617836 617384 411602 391411 615528 614924 171695 260300 93256 300623 157846 606159 98808 248111 143100 617435 606438 98768 167 601104 168600 234200 606324 228169 609161 213600 605909 199351 610217 612953 254892 254886 157640 258450 98762 412066 600116 210571 612067 282166 157941 137440 261640 13 311510 309854 613280 617013 238455 613135 168601 70594 615530 53351 607136 101150 615157 329284 300894

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

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