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:
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	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002067	HP:0002067	Bradykinesia	0	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	96
HP:0002067	HP:0002067	Bradykinesia	0	ADGRV1 CL E G H	84059	17416	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare	530
HP:0002067	HP:0002067	Bradykinesia	0	ADH1C CL E G H	126	251	OMIM:168600	Parkinson disease, late-onset	.	4
HP:0002067	HP:0002067	Bradykinesia	0	ATL1 CL E G H	51062	11231	ORPHA:100984	Autosomal dominant spastic paraplegia type 3	HP:0040284 - Very rare	71
HP:0002067	HP:0002067	Bradykinesia	0	ATP13A2 CL E G H	23400	30213	ORPHA:314632	ATP13A2-related juvenile neuronal ceroid lipofuscinosis	HP:0040282 - Frequent	100
HP:0002067	HP:0002067	Bradykinesia	0	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome		100
HP:0002067	HP:0002067	Bradykinesia	0	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040283 - Occasional	100
HP:0002067	HP:0002067	Bradykinesia	0	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78		100
HP:0002067	HP:0002067	Bradykinesia	0	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss		150
HP:0002067	HP:0002067	Bradykinesia	0	ATP1A3 CL E G H	478	801	OMIM:128235	Dystonia 12	.	150
HP:0002067	HP:0002067	Bradykinesia	0	ATP1A3 CL E G H	478	801	ORPHA:71517	Rapid-onset dystonia-parkinsonism	HP:0040282 - Frequent	150
HP:0002067	HP:0002067	Bradykinesia	0	ATP5MK CL E G H	84833	30889	OMIM:618683	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6; MC5DN6
HP:0002067	HP:0002067	Bradykinesia	0	ATP6AP2 CL E G H	10159	18305	OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH		36
HP:0002067	HP:0002067	Bradykinesia	0	ATP6AP2 CL E G H	10159	18305	OMIM:300911	Parkinsonism with spasticity, X-linked	.	36
HP:0002067	HP:0002067	Bradykinesia	0	ATP6AP2 CL E G H	10159	18305	ORPHA:363654	X-linked parkinsonism-spasticity syndrome	HP:0040282 - Frequent	36
HP:0002067	HP:0002067	Bradykinesia	0	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1	HP:0040282 - Frequent	19
HP:0002067	HP:0002067	Bradykinesia	0	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10		9
HP:0002067	HP:0002067	Bradykinesia	0	ATXN2 CL E G H	6311	10555	OMIM:168600	Parkinson disease, late-onset	.	11
HP:0002067	HP:0002067	Bradykinesia	0	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2	.	11
HP:0002067	HP:0002067	Bradykinesia	0	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease	.	14
HP:0002067	HP:0002067	Bradykinesia	0	ATXN8 CL E G H	724066	32925	ORPHA:98760	Spinocerebellar ataxia type 8	HP:0040282 - Frequent	1
HP:0002067	HP:0002067	Bradykinesia	0	ATXN8OS CL E G H	6315	10561	OMIM:168600	Parkinson disease, late-onset	.	1
HP:0002067	HP:0002067	Bradykinesia	0	ATXN8OS CL E G H	6315	10561	ORPHA:98760	Spinocerebellar ataxia type 8	HP:0040282 - Frequent	1
HP:0002067	HP:0002067	Bradykinesia	0	C19ORF12 CL E G H	83636	25443	ORPHA:289560	Mitochondrial membrane protein-associated neurodegeneration	HP:0040282 - Frequent	114
HP:0002067	HP:0002067	Bradykinesia	0	CHCHD2 CL E G H	51142	21645	OMIM:616710	Parkinson disease 22, autosomal dominant	.	3
HP:0002067	HP:0002067	Bradykinesia	0	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease		216
HP:0002067	HP:0002067	Bradykinesia	0	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56		1
HP:0002067	HP:0002067	Bradykinesia	0	COASY CL E G H	80347	29932	OMIM:615643	Neurodegeneration with brain iron accumulation 6	.	16
HP:0002067	HP:0002067	Bradykinesia	0	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to	.	54
HP:0002067	HP:0002067	Bradykinesia	0	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type	HP:0040283 - Occasional	54
HP:0002067	HP:0002067	Bradykinesia	0	COQ2 CL E G H	27235	25223	ORPHA:98933	Multiple system atrophy, parkinsonian type	HP:0040282 - Frequent	54
HP:0002067	HP:0002067	Bradykinesia	0	CSF1R CL E G H	1436	2433	OMIM:221820	Leukoencephalopathy, diffuse hereditary, with spheroids	.	149
HP:0002067	HP:0002067	Bradykinesia	0	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome	.	86
HP:0002067	HP:0002067	Bradykinesia	0	DHDDS CL E G H	79947	20603	OMIM:617836	Developmental delay and seizures with or without movement abnormalities	.	47
HP:0002067	HP:0002067	Bradykinesia	0	DNAJC12 CL E G H	56521	28908	OMIM:617384	Hyperphenylalaninemia, MILD, non-bh4-deficient	.	3
HP:0002067	HP:0002067	Bradykinesia	0	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	2
HP:0002067	HP:0002067	Bradykinesia	0	DNAJC6 CL E G H	9829	15469	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040281 - Very frequent	6
HP:0002067	HP:0002067	Bradykinesia	0	DNAJC6 CL E G H	9829	15469	OMIM:615528	Parkinson disease 19a, juvenile-onset	.	6
HP:0002067	HP:0002067	Bradykinesia	0	DNAJC6 CL E G H	9829	15469	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	6
HP:0002067	HP:0002067	Bradykinesia	0	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12	.	80
HP:0002067	HP:0002067	Bradykinesia	0	EIF2AK1 CL E G H	27102	24921	OMIM:618878	LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD
HP:0002067	HP:0002067	Bradykinesia	0	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0002067	HP:0002067	Bradykinesia	0	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	2
HP:0002067	HP:0002067	Bradykinesia	0	EIF4G1 CL E G H	1981	3296	OMIM:614251	Parkinson disease 18	.	2
HP:0002067	HP:0002067	Bradykinesia	0	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77	HP:0040283 - Occasional	36
HP:0002067	HP:0002067	Bradykinesia	0	FBXO7 CL E G H	25793	13586	OMIM:260300	Parkinson disease 15, autosomal recessive early-onset	.	36
HP:0002067	HP:0002067	Bradykinesia	0	FBXO7 CL E G H	25793	13586	ORPHA:171695	Parkinsonian-pyramidal syndrome	HP:0040282 - Frequent	36
HP:0002067	HP:0002067	Bradykinesia	0	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome		30
HP:0002067	HP:0002067	Bradykinesia	0	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome	HP:0040283 - Occasional	30
HP:0002067	HP:0002067	Bradykinesia	0	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3		33
HP:0002067	HP:0002067	Bradykinesia	0	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy	HP:0040282 - Frequent	33
HP:0002067	HP:0002067	Bradykinesia	0	GABRA1 CL E G H	2554	4075	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	134
HP:0002067	HP:0002067	Bradykinesia	0	GABRD CL E G H	2563	4084	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare	10
HP:0002067	HP:0002067	Bradykinesia	0	GABRG2 CL E G H	2566	4087	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	139
HP:0002067	HP:0002067	Bradykinesia	0	GABRG2 CL E G H	2566	4087	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare	139
HP:0002067	HP:0002067	Bradykinesia	0	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional
HP:0002067	HP:0002067	Bradykinesia	0	GBA1 CL E G H	2629	4177	OMIM:168600	Parkinson disease, late-onset	.
HP:0002067	HP:0002067	Bradykinesia	0	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040283 - Occasional	86
HP:0002067	HP:0002067	Bradykinesia	0	GCH1 CL E G H	2643	4193	OMIM:128230	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia		86
HP:0002067	HP:0002067	Bradykinesia	0	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	8
HP:0002067	HP:0002067	Bradykinesia	0	GIGYF2 CL E G H	26058	11960	OMIM:607688	PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK11		8
HP:0002067	HP:0002067	Bradykinesia	0	GLUD2 CL E G H	2747	4336	OMIM:168600	Parkinson disease, late-onset	.	1
HP:0002067	HP:0002067	Bradykinesia	0	HCN1 CL E G H	348980	4845	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare	54
HP:0002067	HP:0002067	Bradykinesia	0	HTRA2 CL E G H	27429	14348	OMIM:610297	PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK13		39
HP:0002067	HP:0002067	Bradykinesia	0	HTRA2 CL E G H	27429	14348	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	39
HP:0002067	HP:0002067	Bradykinesia	0	HTT CL E G H	3064	4851	OMIM:143100	Huntington disease	.	12
HP:0002067	HP:0002067	Bradykinesia	0	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease	HP:0040282 - Frequent	12
HP:0002067	HP:0002067	Bradykinesia	0	HTT CL E G H	3064	4851	ORPHA:248111	Juvenile Huntington disease	HP:0040282 - Frequent	12
HP:0002067	HP:0002067	Bradykinesia	0	HTT CL E G H	3064	4851	OMIM:617435	Lopes-Maciel-Rodan syndrome	.	12
HP:0002067	HP:0002067	Bradykinesia	0	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040283 - Occasional	1
HP:0002067	HP:0002067	Bradykinesia	0	JAM2 CL E G H	58494	14686	OMIM:618824	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0002067	HP:0002067	Bradykinesia	0	JPH3 CL E G H	57338	14203	OMIM:606438	Huntington disease-like 2	.	2
HP:0002067	HP:0002067	Bradykinesia	0	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	80
HP:0002067	HP:0002067	Bradykinesia	0	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13	HP:0040284 - Very rare	17
HP:0002067	HP:0002067	Bradykinesia	0	KCNN2 CL E G H	3781	6291	OMIM:619725	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0002067	HP:0002067	Bradykinesia	0	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	13
HP:0002067	HP:0002067	Bradykinesia	0	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	221
HP:0002067	HP:0002067	Bradykinesia	0	LRRK2 CL E G H	120892	18618	OMIM:607060	Parkinson disease 8, autosomal dominant	.	221
HP:0002067	HP:0002067	Bradykinesia	0	LRRK2 CL E G H	120892	18618	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	221
HP:0002067	HP:0002067	Bradykinesia	0	MAPT CL E G H	4137	6893	ORPHA:240071	Classic progressive supranuclear palsy syndrome	HP:0040282 - Frequent	140
HP:0002067	HP:0002067	Bradykinesia	0	MAPT CL E G H	4137	6893	OMIM:168600	Parkinson disease, late-onset	.	140
HP:0002067	HP:0002067	Bradykinesia	0	MAPT CL E G H	4137	6893	ORPHA:240103	Progressive supranuclear palsy-corticobasal syndrome	HP:0040280 - Obligate	140
HP:0002067	HP:0002067	Bradykinesia	0	MAPT CL E G H	4137	6893	ORPHA:240085	Progressive supranuclear palsy-parkinsonism syndrome	HP:0040282 - Frequent	140
HP:0002067	HP:0002067	Bradykinesia	0	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1	.	140
HP:0002067	HP:0002067	Bradykinesia	0	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13		950
HP:0002067	HP:0002067	Bradykinesia	0	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome	HP:0040282 - Frequent	950
HP:0002067	HP:0002067	Bradykinesia	0	MYORG CL E G H	57462	19918	OMIM:618317	Basal ganglia calcification, idiopathic, 7, autosomal recessive	.
HP:0002067	HP:0002067	Bradykinesia	0	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	217
HP:0002067	HP:0002067	Bradykinesia	0	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	745
HP:0002067	HP:0002067	Bradykinesia	0	NR4A2 CL E G H	4929	7981	OMIM:619911			27
HP:0002067	HP:0002067	Bradykinesia	0	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040283 - Occasional	27
HP:0002067	HP:0002067	Bradykinesia	0	NR4A2 CL E G H	4929	7981	OMIM:168600	Parkinson disease, late-onset	.	27
HP:0002067	HP:0002067	Bradykinesia	0	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1	.	55
HP:0002067	HP:0002067	Bradykinesia	0	PARK7 CL E G H	11315	16369	OMIM:606324	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7		23
HP:0002067	HP:0002067	Bradykinesia	0	PARK7 CL E G H	11315	16369	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	23
HP:0002067	HP:0002067	Bradykinesia	0	PCDH19 CL E G H	57526	14270	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	225
HP:0002067	HP:0002067	Bradykinesia	0	PDE8B CL E G H	8622	8794	ORPHA:228169	Autosomal dominant striatal neurodegeneration	HP:0040281 - Very frequent	75
HP:0002067	HP:0002067	Bradykinesia	0	PDE8B CL E G H	8622	8794	OMIM:609161	Striatal degeneration, autosomal dominant	.	75
HP:0002067	HP:0002067	Bradykinesia	0	PDGFB CL E G H	5155	8800	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.	9
HP:0002067	HP:0002067	Bradykinesia	0	PDGFRB CL E G H	5159	8804	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.	28
HP:0002067	HP:0002067	Bradykinesia	0	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0002067	HP:0002067	Bradykinesia	0	PIDD1 CL E G H	55367	16491	OMIM:619827	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
HP:0002067	HP:0002067	Bradykinesia	0	PINK1 CL E G H	65018	14581	OMIM:605909	Parkinson disease 6, autosomal recessive early-onset	.	55
HP:0002067	HP:0002067	Bradykinesia	0	PINK1 CL E G H	65018	14581	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	55
HP:0002067	HP:0002067	Bradykinesia	0	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism	HP:0040282 - Frequent	133
HP:0002067	HP:0002067	Bradykinesia	0	PLA2G6 CL E G H	8398	9039	OMIM:610217	Neurodegeneration with brain iron accumulation 2B	.	133
HP:0002067	HP:0002067	Bradykinesia	0	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive	.	133
HP:0002067	HP:0002067	Bradykinesia	0	PODXL CL E G H	5420	9171	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040281 - Very frequent	6
HP:0002067	HP:0002067	Bradykinesia	0	PODXL CL E G H	5420	9171	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	6
HP:0002067	HP:0002067	Bradykinesia	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	464
HP:0002067	HP:0002067	Bradykinesia	0	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040283 - Occasional	464
HP:0002067	HP:0002067	Bradykinesia	0	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	.	464
HP:0002067	HP:0002067	Bradykinesia	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	.	464
HP:0002067	HP:0002067	Bradykinesia	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	45
HP:0002067	HP:0002067	Bradykinesia	0	PPP2R2B CL E G H	5521	9305	ORPHA:98762	Spinocerebellar ataxia type 12	HP:0040283 - Occasional	5
HP:0002067	HP:0002067	Bradykinesia	0	PRDX3 CL E G H	10935	9354	OMIM:619862
HP:0002067	HP:0002067	Bradykinesia	0	PRKAR1B CL E G H	5575	9390	ORPHA:412066	PRKAR1B-related neurodegenerative dementia with intermediate filaments	HP:0040282 - Frequent	2
HP:0002067	HP:0002067	Bradykinesia	0	PRKN CL E G H	5071	8607	OMIM:600116	Parkinson disease, juvenile, type 2		138
HP:0002067	HP:0002067	Bradykinesia	0	PRKN CL E G H	5071	8607	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	138
HP:0002067	HP:0002067	Bradykinesia	0	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16	.	37
HP:0002067	HP:0002067	Bradykinesia	0	PRKRA CL E G H	8575	9438	ORPHA:210571	Dystonia 16	HP:0040282 - Frequent	37
HP:0002067	HP:0002067	Bradykinesia	0	PRNP CL E G H	5621	9449	OMIM:137440	Gerstmann-Straussler disease	.	69
HP:0002067	HP:0002067	Bradykinesia	0	PRNP CL E G H	5621	9449	ORPHA:157941	Huntington disease-like 1	HP:0040283 - Occasional	69
HP:0002067	HP:0002067	Bradykinesia	0	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease	HP:0040282 - Frequent	69
HP:0002067	HP:0002067	Bradykinesia	0	PTS CL E G H	5805	9689	ORPHA:13	6-pyruvoyl-tetrahydropterin synthase deficiency	HP:0040283 - Occasional	19
HP:0002067	HP:0002067	Bradykinesia	0	PTS CL E G H	5805	9689	OMIM:261640	Hyperphenylalaninemia, BH4-deficient, A	.	19
HP:0002067	HP:0002067	Bradykinesia	0	RAB39B CL E G H	116442	16499	OMIM:311510	Waisman syndrome	.	34
HP:0002067	HP:0002067	Bradykinesia	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	125
HP:0002067	HP:0002067	Bradykinesia	0	SCN1A CL E G H	6323	10585	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	1053
HP:0002067	HP:0002067	Bradykinesia	0	SCN1A CL E G H	6323	10585	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare	1053
HP:0002067	HP:0002067	Bradykinesia	0	SCN1B CL E G H	6324	10586	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	126
HP:0002067	HP:0002067	Bradykinesia	0	SCN1B CL E G H	6324	10586	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare	126
HP:0002067	HP:0002067	Bradykinesia	0	SCN2A CL E G H	6326	10588	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	427
HP:0002067	HP:0002067	Bradykinesia	0	SCN2A CL E G H	6326	10588	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare	427
HP:0002067	HP:0002067	Bradykinesia	0	SCN9A CL E G H	6335	10597	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	318
HP:0002067	HP:0002067	Bradykinesia	0	SCN9A CL E G H	6335	10597	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare	318
HP:0002067	HP:0002067	Bradykinesia	0	SLC20A2 CL E G H	6575	10947	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.	70
HP:0002067	HP:0002067	Bradykinesia	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	68
HP:0002067	HP:0002067	Bradykinesia	0	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease	HP:0040282 - Frequent	1
HP:0002067	HP:0002067	Bradykinesia	0	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome	HP:0040282 - Frequent	42
HP:0002067	HP:0002067	Bradykinesia	0	SLC30A10 CL E G H	55532	25355	OMIM:613280	Hypermanganesemia with dystonia 1		42
HP:0002067	HP:0002067	Bradykinesia	0	SLC39A14 CL E G H	23516	20858	ORPHA:521406	Dystonia-parkinsonism-hypermanganesemia syndrome	HP:0040282 - Frequent	5
HP:0002067	HP:0002067	Bradykinesia	0	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2	.	5
HP:0002067	HP:0002067	Bradykinesia	0	SLC6A3 CL E G H	6531	11049	ORPHA:238455	Infantile dystonia-parkinsonism	HP:0040282 - Frequent	13
HP:0002067	HP:0002067	Bradykinesia	0	SLC6A3 CL E G H	6531	11049	OMIM:613135	Parkinsonism-Dystonia, infantile, 1	.	13
HP:0002067	HP:0002067	Bradykinesia	0	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	65
HP:0002067	HP:0002067	Bradykinesia	0	SNCA CL E G H	6622	11138	OMIM:168601	Parkinson disease 1, autosomal dominant	.	65
HP:0002067	HP:0002067	Bradykinesia	0	SNCA CL E G H	6622	11138	ORPHA:171695	Parkinsonian-pyramidal syndrome	HP:0040282 - Frequent	65
HP:0002067	HP:0002067	Bradykinesia	0	SNCA CL E G H	6622	11138	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	65
HP:0002067	HP:0002067	Bradykinesia	0	SNCAIP CL E G H	9627	11139	OMIM:168600	Parkinson disease, late-onset	.	35
HP:0002067	HP:0002067	Bradykinesia	0	SPR CL E G H	6697	11257	ORPHA:70594	Dopa-responsive dystonia due to sepiapterin reductase deficiency	HP:0040282 - Frequent	28
HP:0002067	HP:0002067	Bradykinesia	0	STX1B CL E G H	112755	18539	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare	9
HP:0002067	HP:0002067	Bradykinesia	0	SYNJ1 CL E G H	8867	11503	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040281 - Very frequent	9
HP:0002067	HP:0002067	Bradykinesia	0	SYNJ1 CL E G H	8867	11503	OMIM:615530	Parkinson disease 20, early-onset	.	9
HP:0002067	HP:0002067	Bradykinesia	0	SYNJ1 CL E G H	8867	11503	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	9
HP:0002067	HP:0002067	Bradykinesia	0	TACO1 CL E G H	51204	24316	OMIM:619052	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8; MC4DN8		23
HP:0002067	HP:0002067	Bradykinesia	0	TAF1 CL E G H	6872	11535	ORPHA:53351	X-linked dystonia-parkinsonism	HP:0040282 - Frequent	21
HP:0002067	HP:0002067	Bradykinesia	0	TBP CL E G H	6908	11588	OMIM:168600	Parkinson disease, late-onset	.	7
HP:0002067	HP:0002067	Bradykinesia	0	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17	.	7
HP:0002067	HP:0002067	Bradykinesia	0	TH CL E G H	7054	11782	ORPHA:101150	Autosomal recessive dopa-responsive dystonia	HP:0040282 - Frequent	80
HP:0002067	HP:0002067	Bradykinesia	0	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040283 - Occasional	103
HP:0002067	HP:0002067	Bradykinesia	0	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	54
HP:0002067	HP:0002067	Bradykinesia	0	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	108
HP:0002067	HP:0002067	Bradykinesia	0	TRNT CL E G H	4576	7499	OMIM:168600	Parkinson disease, late-onset	.
HP:0002067	HP:0002067	Bradykinesia	0	TSPOAP1 CL E G H	9256	16831	ORPHA:101150	Autosomal recessive dopa-responsive dystonia	HP:0040282 - Frequent	2
HP:0002067	HP:0002067	Bradykinesia	0	TTC19 CL E G H	54902	26006	OMIM:615157	Mitochondrial complex III deficiency, nuclear type 2	.	88
HP:0002067	HP:0002067	Bradykinesia	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	113
HP:0002067	HP:0002067	Bradykinesia	0	UCHL1 CL E G H	7345	12513	OMIM:613643	PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK5		21
HP:0002067	HP:0002067	Bradykinesia	0	UCHL1 CL E G H	7345	12513	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	21
HP:0002067	HP:0002067	Bradykinesia	0	UQCRC1 CL E G H	7384	12585	OMIM:619279	PARKINSONISM WITH POLYNEUROPATHY; PKNPY
HP:0002067	HP:0002067	Bradykinesia	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040283 - Occasional	130
HP:0002067	HP:0002067	Bradykinesia	0	VPS13C CL E G H	54832	23594	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	8
HP:0002067	HP:0002067	Bradykinesia	0	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	37
HP:0002067	HP:0002067	Bradykinesia	0	VPS35 CL E G H	55737	13487	OMIM:614203	Parkinson disease 17	.	37
HP:0002067	HP:0002067	Bradykinesia	0	WDR45 CL E G H	11152	28912	ORPHA:329284	Beta-propeller protein-associated neurodegeneration	HP:0040282 - Frequent	51
HP:0002067	HP:0002067	Bradykinesia	0	WDR45 CL E G H	11152	28912	OMIM:300894	Neurodegeneration with brain iron accumulation 5	.	51

Genes (112) :ACTA1 ADGRV1 ADH1C ATL1 ATP13A2 ATP1A3 ATP5MK ATP6AP2 ATXN1 ATXN10 ATXN2 ATXN3 ATXN8 ATXN8OS C19ORF12 CHCHD2 CLN3 CLTC COASY COQ2 CSF1R DCTN1 DHDDS DNAJC12 DNAJC13 DNAJC6 EARS2 EIF2AK1 EIF2AK2 EIF4G1 FARS2 FBXO7 FMR1 FTL GABRA1 GABRD GABRG2 GBA1 GCH1 GIGYF2 GLUD2 HCN1 HTRA2 HTT IMPDH2 JAM2 JPH3 KBTBD13 KCNC3 KCNN2 KLHL41 LRRK2 MAPT MECP2 MYORG MYPN NEB NR4A2 PANK2 PARK7 PCDH19 PDE8B PDGFB PDGFRB PET117 PIDD1 PINK1 PLA2G6 PODXL POLG POLG2 PPP2R2B PRDX3 PRKAR1B PRKN PRKRA PRNP PTS RAB39B RRM2B SCN1A SCN1B SCN2A SCN9A SLC20A2 SLC25A4 SLC2A3 SLC30A10 SLC39A14 SLC6A3 SNCA SNCAIP SPR STX1B SYNJ1 TACO1 TAF1 TBP TH TK2 TPM2 TPM3 TRNT TSPOAP1 TTC19 TWNK UCHL1 UQCRC1 VPS13A VPS13C VPS35 WDR45

Diseases (116) :ORPHA:171439 ORPHA:36387 OMIM:168600 ORPHA:100984 ORPHA:314632 OMIM:606693 ORPHA:306674 OMIM:617225 OMIM:601338 OMIM:128235 ORPHA:71517 OMIM:618683 OMIM:300423 OMIM:300911 ORPHA:363654 ORPHA:98755 OMIM:603516 OMIM:183090 OMIM:109150 ORPHA:98760 ORPHA:289560 OMIM:616710 ORPHA:228346 OMIM:617854 OMIM:615643 OMIM:146500 ORPHA:227510 ORPHA:98933 OMIM:221820 OMIM:168605 OMIM:617836 OMIM:617384 ORPHA:411602 ORPHA:391411 OMIM:615528 ORPHA:2828 OMIM:614924 OMIM:618878 OMIM:618877 OMIM:614251 ORPHA:466722 OMIM:260300 ORPHA:171695 OMIM:300623 ORPHA:93256 OMIM:606159 ORPHA:157846 ORPHA:33069 ORPHA:98808 OMIM:128230 OMIM:607688 OMIM:610297 OMIM:143100 ORPHA:399 ORPHA:248111 OMIM:617435 OMIM:618824 OMIM:606438 ORPHA:98768 OMIM:619725 OMIM:607060 ORPHA:240071 ORPHA:240103 ORPHA:240085 OMIM:601104 OMIM:300055 ORPHA:778 OMIM:618317 OMIM:619911 OMIM:234200 OMIM:606324 ORPHA:228169 OMIM:609161 OMIM:213600 OMIM:619063 OMIM:619827 OMIM:605909 ORPHA:199351 OMIM:610217 OMIM:612953 ORPHA:254892 ORPHA:254886 OMIM:157640 OMIM:258450 ORPHA:98762 OMIM:619862 ORPHA:412066 OMIM:600116 OMIM:612067 ORPHA:210571 OMIM:137440 ORPHA:157941 ORPHA:282166 ORPHA:13 OMIM:261640 OMIM:311510 ORPHA:309854 OMIM:613280 ORPHA:521406 OMIM:617013 ORPHA:238455 OMIM:613135 OMIM:168601 ORPHA:70594 OMIM:615530 OMIM:619052 ORPHA:53351 OMIM:607136 ORPHA:101150 OMIM:615157 OMIM:613643 OMIM:619279 ORPHA:2388 OMIM:614203 ORPHA:329284 OMIM:300894

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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