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 muscle tone (HP:0003808)

Grandparent Node:
Upper motor neuron dysfunction (HP:0002493)

Parent Node:
Abnormality of the musculature of the limbs (HP:0009127)

Parent Node:
Hypertonia (HP:0001276)

..Starting node
..Limb hypertonia (HP:0002509)

Term ID:

2509

Name:

Limb hypertonia

Synonym:

Increased muscle tone of arm or leg

Definition:

Comments:

Reference:

HP:0002509

Genes and Diseases:

Child Nodes:

........

Lower limb hypertonia (HP:0006895)

........

Upper limb hypertonia (HP:0200049)

Sister Nodes:

Neck hypertonia (HP:0031867)

Spasticity (HP:0001257)

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:0002509	HP:0002509	Limb hypertonia	0	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare
HP:0002509	HP:0002509	Limb hypertonia	0	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	2
HP:0002509	HP:0002509	Limb hypertonia	0	ADCY5 CL E G H	111	236	OMIM:606703	Dyskinesia, familial, with facial myokymia	.	25
HP:0002509	HP:0002509	Limb hypertonia	0	ADCY5 CL E G H	111	236	ORPHA:324588	Familial dyskinesia and facial myokymia	HP:0040282 - Frequent	25
HP:0002509	HP:0002509	Limb hypertonia	0	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	88
HP:0002509	HP:0002509	Limb hypertonia	0	AFG3L2 CL E G H	10939	315	OMIM:610246	Spinocerebellar ataxia 28		86
HP:0002509	HP:0002509	Limb hypertonia	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A		89
HP:0002509	HP:0002509	Limb hypertonia	0	ALG11 CL E G H	440138	32456	ORPHA:280071	ALG11-CDG	HP:0040283 - Occasional	41
HP:0002509	HP:0002509	Limb hypertonia	0	AP3B2 CL E G H	8120	567	OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48		7
HP:0002509	HP:0002509	Limb hypertonia	0	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	7
HP:0002509	HP:0002509	Limb hypertonia	0	ARSI CL E G H	340075	32521	ORPHA:401815	Autosomal recessive spastic paraplegia type 66	HP:0040282 - Frequent	1
HP:0002509	HP:0002509	Limb hypertonia	0	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	3
HP:0002509	HP:0002509	Limb hypertonia	0	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency		17
HP:0002509	HP:0002509	Limb hypertonia	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome		145
HP:0002509	HP:0002509	Limb hypertonia	0	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome		7
HP:0002509	HP:0002509	Limb hypertonia	0	ATL1 CL E G H	51062	11231	ORPHA:100984	Autosomal dominant spastic paraplegia type 3		71
HP:0002509	HP:0002509	Limb hypertonia	0	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	239
HP:0002509	HP:0002509	Limb hypertonia	0	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	150
HP:0002509	HP:0002509	Limb hypertonia	0	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	3
HP:0002509	HP:0002509	Limb hypertonia	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1		169
HP:0002509	HP:0002509	Limb hypertonia	0	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal		20
HP:0002509	HP:0002509	Limb hypertonia	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040283 - Occasional	7
HP:0002509	HP:0002509	Limb hypertonia	0	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	449
HP:0002509	HP:0002509	Limb hypertonia	0	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	5
HP:0002509	HP:0002509	Limb hypertonia	0	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	59
HP:0002509	HP:0002509	Limb hypertonia	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0002509	HP:0002509	Limb hypertonia	0	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare
HP:0002509	HP:0002509	Limb hypertonia	0	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare
HP:0002509	HP:0002509	Limb hypertonia	0	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0002509	HP:0002509	Limb hypertonia	0	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	1
HP:0002509	HP:0002509	Limb hypertonia	0	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	18
HP:0002509	HP:0002509	Limb hypertonia	0	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG	HP:0040282 - Frequent	67
HP:0002509	HP:0002509	Limb hypertonia	0	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	1
HP:0002509	HP:0002509	Limb hypertonia	0	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare
HP:0002509	HP:0002509	Limb hypertonia	0	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency		43
HP:0002509	HP:0002509	Limb hypertonia	0	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	47
HP:0002509	HP:0002509	Limb hypertonia	0	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment	.
HP:0002509	HP:0002509	Limb hypertonia	0	DNAJC12 CL E G H	56521	28908	OMIM:617384	Hyperphenylalaninemia, MILD, non-bh4-deficient		3
HP:0002509	HP:0002509	Limb hypertonia	0	DNAJC6 CL E G H	9829	15469	OMIM:615528	Parkinson disease 19a, juvenile-onset		6
HP:0002509	HP:0002509	Limb hypertonia	0	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	72
HP:0002509	HP:0002509	Limb hypertonia	0	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0002509	HP:0002509	Limb hypertonia	0	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome	HP:0040282 - Frequent	51
HP:0002509	HP:0002509	Limb hypertonia	0	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	60
HP:0002509	HP:0002509	Limb hypertonia	0	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation		5
HP:0002509	HP:0002509	Limb hypertonia	0	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome	HP:0040282 - Frequent	5
HP:0002509	HP:0002509	Limb hypertonia	0	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional	20
HP:0002509	HP:0002509	Limb hypertonia	0	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional	199
HP:0002509	HP:0002509	Limb hypertonia	0	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional	55
HP:0002509	HP:0002509	Limb hypertonia	0	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35		76
HP:0002509	HP:0002509	Limb hypertonia	0	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A		7
HP:0002509	HP:0002509	Limb hypertonia	0	FGF12 CL E G H	2257	3668	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	3
HP:0002509	HP:0002509	Limb hypertonia	0	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90		1
HP:0002509	HP:0002509	Limb hypertonia	0	FGF13 CL E G H	2258	3670	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	1
HP:0002509	HP:0002509	Limb hypertonia	0	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome	HP:0040282 - Frequent	1
HP:0002509	HP:0002509	Limb hypertonia	0	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare
HP:0002509	HP:0002509	Limb hypertonia	0	GABBR2 CL E G H	9568	4507	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	5
HP:0002509	HP:0002509	Limb hypertonia	0	GABRA2 CL E G H	2555	4076	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	4
HP:0002509	HP:0002509	Limb hypertonia	0	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare
HP:0002509	HP:0002509	Limb hypertonia	0	GABRB2 CL E G H	2561	4082	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	44
HP:0002509	HP:0002509	Limb hypertonia	0	GABRG2 CL E G H	2566	4087	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	139
HP:0002509	HP:0002509	Limb hypertonia	0	GCH1 CL E G H	2643	4193	OMIM:233910	Hyperphenylalaninemia, BH4-deficient, B	.	86
HP:0002509	HP:0002509	Limb hypertonia	0	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040283 - Occasional	43
HP:0002509	HP:0002509	Limb hypertonia	0	GNB1 CL E G H	2782	4396	ORPHA:488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0002509	HP:0002509	Limb hypertonia	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42	.	12
HP:0002509	HP:0002509	Limb hypertonia	0	GPHN CL E G H	10243	15465	OMIM:615501	Molybdenum cofactor deficiency, complementation group C		18
HP:0002509	HP:0002509	Limb hypertonia	0	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS		32
HP:0002509	HP:0002509	Limb hypertonia	0	GRIN2D CL E G H	2906	4588	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	2
HP:0002509	HP:0002509	Limb hypertonia	0	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA		5
HP:0002509	HP:0002509	Limb hypertonia	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0002509	HP:0002509	Limb hypertonia	0	HCN1 CL E G H	348980	4845	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	54
HP:0002509	HP:0002509	Limb hypertonia	0	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA		11
HP:0002509	HP:0002509	Limb hypertonia	0	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7		28
HP:0002509	HP:0002509	Limb hypertonia	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0002509	HP:0002509	Limb hypertonia	0	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly		10
HP:0002509	HP:0002509	Limb hypertonia	0	KCNA2 CL E G H	3737	6220	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	13
HP:0002509	HP:0002509	Limb hypertonia	0	KCNB1 CL E G H	3745	6231	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	65
HP:0002509	HP:0002509	Limb hypertonia	0	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features		3
HP:0002509	HP:0002509	Limb hypertonia	0	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome		3
HP:0002509	HP:0002509	Limb hypertonia	0	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0002509	HP:0002509	Limb hypertonia	0	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO		4
HP:0002509	HP:0002509	Limb hypertonia	0	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0002509	HP:0002509	Limb hypertonia	0	MINPP1 CL E G H	9562	7102	OMIM:619527	PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16		3
HP:0002509	HP:0002509	Limb hypertonia	0	MTPAP CL E G H	55149	25532	ORPHA:254343	Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome		19
HP:0002509	HP:0002509	Limb hypertonia	0	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE		88
HP:0002509	HP:0002509	Limb hypertonia	0	NCAPD3 CL E G H	23310	28952	OMIM:617984	Microcephaly 22, primary, autosomal recessive	.	1
HP:0002509	HP:0002509	Limb hypertonia	0	NDUFA9 CL E G H	4704	7693	OMIM:618247	Mitochondrial complex I deficiency, nuclear type 26	.	27
HP:0002509	HP:0002509	Limb hypertonia	0	NDUFC2 CL E G H	4718	7706	OMIM:619170	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0002509	HP:0002509	Limb hypertonia	0	NECAP1 CL E G H	25977	24539	OMIM:615833	Epileptic encephalopathy, early infantile, 21		1
HP:0002509	HP:0002509	Limb hypertonia	0	NECAP1 CL E G H	25977	24539	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	1
HP:0002509	HP:0002509	Limb hypertonia	0	NTRK2 CL E G H	4915	8032	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	8
HP:0002509	HP:0002509	Limb hypertonia	0	NUS1 CL E G H	116150	21042	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	1
HP:0002509	HP:0002509	Limb hypertonia	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5		73
HP:0002509	HP:0002509	Limb hypertonia	0	PARS2 CL E G H	25973	30563	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	14
HP:0002509	HP:0002509	Limb hypertonia	0	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia	.	96
HP:0002509	HP:0002509	Limb hypertonia	0	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia	.	92
HP:0002509	HP:0002509	Limb hypertonia	0	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	11
HP:0002509	HP:0002509	Limb hypertonia	0	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH		46
HP:0002509	HP:0002509	Limb hypertonia	0	PIGP CL E G H	51227	3046	OMIM:617599	Epileptic encephalopathy, early infantile, 55	.	2
HP:0002509	HP:0002509	Limb hypertonia	0	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder	HP:0040282 - Frequent	3
HP:0002509	HP:0002509	Limb hypertonia	0	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13		60
HP:0002509	HP:0002509	Limb hypertonia	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent	138
HP:0002509	HP:0002509	Limb hypertonia	0	PPP3CA CL E G H	5530	9314	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	2
HP:0002509	HP:0002509	Limb hypertonia	0	PRDM13 CL E G H	59336	13998	OMIM:619909			2
HP:0002509	HP:0002509	Limb hypertonia	0	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	HP:0040282 - Frequent	49
HP:0002509	HP:0002509	Limb hypertonia	0	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040283 - Occasional	11
HP:0002509	HP:0002509	Limb hypertonia	0	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy
HP:0002509	HP:0002509	Limb hypertonia	0	RHOBTB2 CL E G H	23221	18756	OMIM:618004	Epileptic encephalopathy, early infantile, 64	.	1
HP:0002509	HP:0002509	Limb hypertonia	0	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0002509	HP:0002509	Limb hypertonia	0	SCN3A CL E G H	6328	10590	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	70
HP:0002509	HP:0002509	Limb hypertonia	0	SCN8A CL E G H	6334	10596	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	357
HP:0002509	HP:0002509	Limb hypertonia	0	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		304
HP:0002509	HP:0002509	Limb hypertonia	0	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		16
HP:0002509	HP:0002509	Limb hypertonia	0	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		237
HP:0002509	HP:0002509	Limb hypertonia	0	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		129
HP:0002509	HP:0002509	Limb hypertonia	0	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2		66
HP:0002509	HP:0002509	Limb hypertonia	0	SLC13A5 CL E G H	284111	23089	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	73
HP:0002509	HP:0002509	Limb hypertonia	0	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040283 - Occasional	57
HP:0002509	HP:0002509	Limb hypertonia	0	SLC1A2 CL E G H	6506	10940	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	3
HP:0002509	HP:0002509	Limb hypertonia	0	SLC25A19 CL E G H	60386	14409	ORPHA:99742	Amish lethal microcephaly	HP:0040282 - Frequent	36
HP:0002509	HP:0002509	Limb hypertonia	0	SLC25A19 CL E G H	60386	14409	OMIM:607196	Microcephaly, Amish type	.	36
HP:0002509	HP:0002509	Limb hypertonia	0	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome	.	1
HP:0002509	HP:0002509	Limb hypertonia	0	SLC33A1 CL E G H	9197	95	ORPHA:171863	Autosomal dominant spastic paraplegia type 42		48
HP:0002509	HP:0002509	Limb hypertonia	0	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II		71
HP:0002509	HP:0002509	Limb hypertonia	0	SLC38A3 CL E G H	10991	18044	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare
HP:0002509	HP:0002509	Limb hypertonia	0	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2		5
HP:0002509	HP:0002509	Limb hypertonia	0	SLC6A3 CL E G H	6531	11049	ORPHA:238455	Infantile dystonia-parkinsonism	HP:0040282 - Frequent	13
HP:0002509	HP:0002509	Limb hypertonia	0	SMG9 CL E G H	56006	25763	OMIM:619995			2
HP:0002509	HP:0002509	Limb hypertonia	0	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0002509	HP:0002509	Limb hypertonia	0	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	HP:0040283 - Occasional	19
HP:0002509	HP:0002509	Limb hypertonia	0	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive		171
HP:0002509	HP:0002509	Limb hypertonia	0	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7		171
HP:0002509	HP:0002509	Limb hypertonia	0	SPR CL E G H	6697	11257	ORPHA:70594	Dopa-responsive dystonia due to sepiapterin reductase deficiency	HP:0040282 - Frequent	28
HP:0002509	HP:0002509	Limb hypertonia	0	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	50
HP:0002509	HP:0002509	Limb hypertonia	0	SYNGAP1 CL E G H	8831	11497	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	108
HP:0002509	HP:0002509	Limb hypertonia	0	SYNJ1 CL E G H	8867	11503	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	9
HP:0002509	HP:0002509	Limb hypertonia	0	SZT2 CL E G H	23334	29040	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	123
HP:0002509	HP:0002509	Limb hypertonia	0	TARS2 CL E G H	80222	30740	OMIM:615918	Combined oxidative phosphorylation deficiency 21	.	28
HP:0002509	HP:0002509	Limb hypertonia	0	TRAK1 CL E G H	22906	29947	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare
HP:0002509	HP:0002509	Limb hypertonia	0	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2		3
HP:0002509	HP:0002509	Limb hypertonia	0	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2		84
HP:0002509	HP:0002509	Limb hypertonia	0	TSEN2 CL E G H	80746	28422	OMIM:612389	Pontocerebellar hypoplasia, type 2B	.	84
HP:0002509	HP:0002509	Limb hypertonia	0	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2		57
HP:0002509	HP:0002509	Limb hypertonia	0	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2		102
HP:0002509	HP:0002509	Limb hypertonia	0	UBA5 CL E G H	79876	23230	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	13
HP:0002509	HP:0002509	Limb hypertonia	0	UBTF CL E G H	7343	12511	ORPHA:500180	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder	HP:0040283 - Occasional	1
HP:0002509	HP:0002509	Limb hypertonia	0	UFSP2 CL E G H	55325	25640	OMIM:620028			2
HP:0002509	HP:0002509	Limb hypertonia	0	USP8 CL E G H	9101	12631	ORPHA:401795	Autosomal recessive spastic paraplegia type 59	HP:0040282 - Frequent	7
HP:0002509	HP:0002509	Limb hypertonia	0	VPS37A CL E G H	137492	24928	ORPHA:319199	Autosomal recessive spastic paraplegia type 53		7
HP:0002509	HP:0002509	Limb hypertonia	0	VPS37A CL E G H	137492	24928	OMIM:614898	SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53		7
HP:0002509	HP:0002509	Limb hypertonia	0	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures	.	2
HP:0002509	HP:0002509	Limb hypertonia	0	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect	HP:0040282 - Frequent	2
HP:0002509	HP:0002509	Limb hypertonia	0	WDR48 CL E G H	57599	30914	ORPHA:401800	Autosomal recessive spastic paraplegia type 60	HP:0040282 - Frequent	1
HP:0002509	HP:0002509	Limb hypertonia	0	WWOX CL E G H	51741	12799	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	149
HP:0002509	HP:0002509	Limb hypertonia	0	YWHAG CL E G H	7532	12852	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare
HP:0002509	HP:0006895	Lower limb hypertonia	1	AFG3L2 CL E G H	10939	315	OMIM:610246	Spinocerebellar ataxia 28		86
HP:0002509	HP:0006895	Lower limb hypertonia	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040282 - Frequent	89
HP:0002509	HP:0006895	Lower limb hypertonia	1	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040282 - Frequent	145
HP:0002509	HP:0006895	Lower limb hypertonia	1	ATL1 CL E G H	51062	11231	ORPHA:100984	Autosomal dominant spastic paraplegia type 3	HP:0040284 - Very rare	71
HP:0002509	HP:0006895	Lower limb hypertonia	1	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.	169
HP:0002509	HP:0006895	Lower limb hypertonia	1	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0002509	HP:0200049	Upper limb hypertonia	1	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0002509	HP:0006895	Lower limb hypertonia	1	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35	HP:0040282 - Frequent	76
HP:0002509	HP:0006895	Lower limb hypertonia	1	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040282 - Frequent	7
HP:0002509	HP:0006895	Lower limb hypertonia	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0002509	HP:0006895	Lower limb hypertonia	1	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features		3
HP:0002509	HP:0006895	Lower limb hypertonia	1	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0002509	HP:0006895	Lower limb hypertonia	1	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type	.	81
HP:0002509	HP:0006895	Lower limb hypertonia	1	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO		4
HP:0002509	HP:0006895	Lower limb hypertonia	1	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0002509	HP:0200049	Upper limb hypertonia	1	MTPAP CL E G H	55149	25532	ORPHA:254343	Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome	HP:0040282 - Frequent	19
HP:0002509	HP:0006895	Lower limb hypertonia	1	MTPAP CL E G H	55149	25532	ORPHA:254343	Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome	HP:0040282 - Frequent	19
HP:0002509	HP:0006895	Lower limb hypertonia	1	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE	HP:0040283 - Occasional	88
HP:0002509	HP:0006895	Lower limb hypertonia	1	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH		46
HP:0002509	HP:0006895	Lower limb hypertonia	1	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13	HP:0040283 - Occasional	60
HP:0002509	HP:0006895	Lower limb hypertonia	1	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy	HP:0040282 - Frequent
HP:0002509	HP:0006895	Lower limb hypertonia	1	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0002509	HP:0006895	Lower limb hypertonia	1	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional	304
HP:0002509	HP:0006895	Lower limb hypertonia	1	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional	16
HP:0002509	HP:0006895	Lower limb hypertonia	1	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional	237
HP:0002509	HP:0006895	Lower limb hypertonia	1	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional	129
HP:0002509	HP:0006895	Lower limb hypertonia	1	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	66
HP:0002509	HP:0200049	Upper limb hypertonia	1	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	66
HP:0002509	HP:0006895	Lower limb hypertonia	1	SLC33A1 CL E G H	9197	95	ORPHA:171863	Autosomal dominant spastic paraplegia type 42	HP:0040281 - Very frequent	48
HP:0002509	HP:0006895	Lower limb hypertonia	1	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040283 - Occasional	71
HP:0002509	HP:0006895	Lower limb hypertonia	1	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2		5
HP:0002509	HP:0006895	Lower limb hypertonia	1	SMG9 CL E G H	56006	25763	OMIM:619995			2
HP:0002509	HP:0200049	Upper limb hypertonia	1	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive		171
HP:0002509	HP:0006895	Lower limb hypertonia	1	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive		171
HP:0002509	HP:0006895	Lower limb hypertonia	1	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7	HP:0040282 - Frequent	171
HP:0002509	HP:0006895	Lower limb hypertonia	1	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	3
HP:0002509	HP:0200049	Upper limb hypertonia	1	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	3
HP:0002509	HP:0200049	Upper limb hypertonia	1	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	84
HP:0002509	HP:0006895	Lower limb hypertonia	1	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	84
HP:0002509	HP:0006895	Lower limb hypertonia	1	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	57
HP:0002509	HP:0200049	Upper limb hypertonia	1	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	57
HP:0002509	HP:0200049	Upper limb hypertonia	1	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	102
HP:0002509	HP:0006895	Lower limb hypertonia	1	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	102
HP:0002509	HP:0200049	Upper limb hypertonia	1	VPS37A CL E G H	137492	24928	ORPHA:319199	Autosomal recessive spastic paraplegia type 53	HP:0040282 - Frequent	7
HP:0002509	HP:0200049	Upper limb hypertonia	1	VPS37A CL E G H	137492	24928	OMIM:614898	SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53		7
HP:0002509	HP:0006895	Lower limb hypertonia	1	VPS37A CL E G H	137492	24928	OMIM:614898	SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53		7

Genes (141) :AARS1 ACTL6B ADCY5 ADGRG1 AFG3L2 ALDH18A1 ALG11 AP3B2 ARSI ARV1 ASNS ASXL1 ASXL2 ATL1 ATP1A2 ATP1A3 ATP6V1A ATRX BRAT1 BRF1 CACNA1A CACNA1B CACNA2D1 CDC42BPB CDK19 CELF2 CLDN11 CLTC CNKSR2 COG4 CYFIP2 DALRD3 DDC DHDDS DHPS DNAJC12 DNAJC6 DNM1 DPH5 EBP EEF1A2 EMC1 ERCC1 ERCC6 ERCC8 FA2H FAR1 FGF12 FGF13 FRMD4A FZR1 GABBR2 GABRA2 GABRA5 GABRB2 GABRG2 GCH1 GFM2 GNB1 GPHN GRIK2 GRIN2D GRM7 H4C5 HCN1 HK1 IFIH1 KAT6A KATNB1 KCNA2 KCNB1 KDM1A KDM5C KIDINS220 LBR MINPP1 MTPAP MTRR NCAPD3 NDUFA9 NDUFC2 NECAP1 NTRK2 NUS1 OSTM1 PARS2 PCCA PCCB PI4KA PIGA PIGP PLAA PNPT1 POLR3A PPP3CA PRDM13 PRPS1 PYCR2 RARS1 RHOBTB2 RNU7-1 SCN3A SCN8A SDHA SDHAF1 SDHB SDHD SEPSECS SLC13A5 SLC16A2 SLC1A2 SLC25A19 SLC30A9 SLC33A1 SLC35C1 SLC38A3 SLC39A14 SLC6A3 SMG9 SPATA5 SPG7 SPR SRPX2 SYNGAP1 SYNJ1 SZT2 TARS2 TRAK1 TSEN15 TSEN2 TSEN34 TSEN54 UBA5 UBTF UFSP2 USP8 VPS37A WARS2 WDR48 WWOX YWHAG

Diseases (94) :ORPHA:442835 OMIM:606703 ORPHA:324588 ORPHA:98889 OMIM:610246 ORPHA:447753 ORPHA:280071 OMIM:617276 ORPHA:401815 OMIM:615574 ORPHA:97297 OMIM:617190 ORPHA:100984 OMIM:309580 OMIM:614498 ORPHA:444072 OMIM:619841 OMIM:619328 ORPHA:263501 OMIM:608643 OMIM:618480 OMIM:617384 OMIM:615528 OMIM:620070 ORPHA:401973 OMIM:616875 ORPHA:480898 ORPHA:90322 ORPHA:171629 OMIM:301058 ORPHA:466688 OMIM:233910 ORPHA:565624 ORPHA:488613 OMIM:616973 OMIM:615501 OMIM:619580 OMIM:618922 OMIM:619950 OMIM:618547 OMIM:615846 OMIM:616268 OMIM:616212 OMIM:616728 ORPHA:477993 OMIM:300534 OMIM:617296 OMIM:169400 OMIM:619527 ORPHA:254343 ORPHA:2169 OMIM:617984 OMIM:618247 OMIM:619170 OMIM:615833 OMIM:259720 OMIM:606054 OMIM:301072 OMIM:617599 ORPHA:521426 ORPHA:319514 ORPHA:3455 OMIM:619909 ORPHA:423479 ORPHA:481152 ORPHA:438114 OMIM:618004 OMIM:619487 ORPHA:3208 ORPHA:2524 ORPHA:59 ORPHA:99742 OMIM:607196 OMIM:617595 ORPHA:171863 ORPHA:99843 OMIM:617013 ORPHA:238455 OMIM:619995 OMIM:616920 ORPHA:457351 OMIM:607259 ORPHA:99013 ORPHA:70594 OMIM:615918 OMIM:612389 ORPHA:500180 OMIM:620028 ORPHA:401795 ORPHA:319199 OMIM:614898 OMIM:617710 ORPHA:572798 ORPHA:401800

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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