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:
Peripheral neuropathy (HP:0009830)

Parent Node:
Somatic sensory dysfunction (HP:0003474)

..Starting node
..Impaired vibratory sensation (HP:0002495)

Term ID:

2495

Name:

Impaired vibratory sensation

Synonym:

Decreased vibration sense; Decreased vibratory sense; Diminished vibratory sense; Hypopallesthesia; Impaired vibratory sensation; Impaired vibratory sense

Definition:

A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient.

Comments:

Reference:

HP:0002495

Genes and Diseases:

Child Nodes:

........

Impaired vibration sensation in the lower limbs (HP:0002166)

................... HP:0006938 Impaired vibration sensation at ankles

........

Impaired distal vibration sensation (HP:0006886)

................... HP:0006938 Impaired vibration sensation at ankles

........

Abolished vibration sense (HP:0006944)

Sister Nodes:

Abnormality of pain sensation (HP:0010832)

Dissociated sensory loss (HP:0010835)

Distal sensory impairment (HP:0002936)

Impaired proprioception (HP:0010831)

Impaired tactile sensation (HP:0010830)

Impaired temperature sensation (HP:0010829)

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:0002495	HP:0002495	Impaired vibratory sensation	0	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy		135
HP:0002495	HP:0002495	Impaired vibratory sensation	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A		89
HP:0002495	HP:0002495	Impaired vibratory sensation	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B		89
HP:0002495	HP:0002495	Impaired vibratory sensation	0	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant	HP:0040283 - Occasional	89
HP:0002495	HP:0002495	Impaired vibratory sensation	0	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive		89
HP:0002495	HP:0002495	Impaired vibratory sensation	0	AMPD2 CL E G H	271	469	OMIM:615686	Spastic paraplegia 63, autosomal recessive		21
HP:0002495	HP:0002495	Impaired vibratory sensation	0	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia		61
HP:0002495	HP:0002495	Impaired vibratory sensation	0	ARSI CL E G H	340075	32521	ORPHA:401815	Autosomal recessive spastic paraplegia type 66		1
HP:0002495	HP:0002495	Impaired vibratory sensation	0	ATL1 CL E G H	51062	11231	ORPHA:100984	Autosomal dominant spastic paraplegia type 3	HP:0040283 - Occasional	71
HP:0002495	HP:0002495	Impaired vibratory sensation	0	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant		71
HP:0002495	HP:0002495	Impaired vibratory sensation	0	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78		100
HP:0002495	HP:0002495	Impaired vibratory sensation	0	ATP1A1 CL E G H	476	799	OMIM:618036	Charcot-Marie-Tooth disease, axonal, type 2DD		4
HP:0002495	HP:0002495	Impaired vibratory sensation	0	ATP6 CL E G H	4508	7414	ORPHA:320360	MT-ATP6-related mitochondrial spastic paraplegia
HP:0002495	HP:0002495	Impaired vibratory sensation	0	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1		19
HP:0002495	HP:0002495	Impaired vibratory sensation	0	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2	.	11
HP:0002495	HP:0002495	Impaired vibratory sensation	0	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease	.	14
HP:0002495	HP:0002495	Impaired vibratory sensation	0	ATXN8 CL E G H	724066	32925	ORPHA:98760	Spinocerebellar ataxia type 8	HP:0040283 - Occasional	1
HP:0002495	HP:0002495	Impaired vibratory sensation	0	ATXN8OS CL E G H	6315	10561	ORPHA:98760	Spinocerebellar ataxia type 8	HP:0040283 - Occasional	1
HP:0002495	HP:0002495	Impaired vibratory sensation	0	B4GALNT1 CL E G H	2583	4117	ORPHA:101006	Autosomal recessive spastic paraplegia type 26		25
HP:0002495	HP:0002495	Impaired vibratory sensation	0	BEAN1 CL E G H	146227	24160	ORPHA:217012	Spinocerebellar ataxia type 31	HP:0040283 - Occasional	1
HP:0002495	HP:0002495	Impaired vibratory sensation	0	BSCL2 CL E G H	26580	15832	ORPHA:139536	Distal hereditary motor neuropathy type 5	HP:0040282 - Frequent	105
HP:0002495	HP:0002495	Impaired vibratory sensation	0	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17		105
HP:0002495	HP:0002495	Impaired vibratory sensation	0	C19ORF12 CL E G H	83636	25443	ORPHA:320370	Autosomal recessive spastic paraplegia type 43	HP:0040282 - Frequent	114
HP:0002495	HP:0002495	Impaired vibratory sensation	0	CACNA1G CL E G H	8913	1394	OMIM:616795	Spinocerebellar ataxia 42		32
HP:0002495	HP:0002495	Impaired vibratory sensation	0	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42		32
HP:0002495	HP:0002495	Impaired vibratory sensation	0	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF		1
HP:0002495	HP:0002495	Impaired vibratory sensation	0	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset		11
HP:0002495	HP:0002495	Impaired vibratory sensation	0	CHP1 CL E G H	11261	17433	OMIM:618438	Spastic ataxia 9, autosomal recessive
HP:0002495	HP:0002495	Impaired vibratory sensation	0	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73		1
HP:0002495	HP:0002495	Impaired vibratory sensation	0	CPT1C CL E G H	126129	18540	OMIM:616282	Spastic paraplegia 73, autosomal dominant		1
HP:0002495	HP:0002495	Impaired vibratory sensation	0	CYP7B1 CL E G H	9420	2652	ORPHA:100986	Autosomal recessive spastic paraplegia type 5A	HP:0040281 - Very frequent	57
HP:0002495	HP:0002495	Impaired vibratory sensation	0	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive		57
HP:0002495	HP:0002495	Impaired vibratory sensation	0	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome		60
HP:0002495	HP:0002495	Impaired vibratory sensation	0	DCAF8 CL E G H	50717	24891	OMIM:610100	Giant axonal neuropathy, autosomal dominant		2
HP:0002495	HP:0002495	Impaired vibratory sensation	0	DDHD1 CL E G H	80821	19714	ORPHA:101008	Autosomal recessive spastic paraplegia type 28		35
HP:0002495	HP:0002495	Impaired vibratory sensation	0	DHH CL E G H	50846	2865	OMIM:607080	46,XY GONADAL DYSGENESIS, PARTIAL, WITH MINIFASCICULAR NEUROPATHY		21
HP:0002495	HP:0002495	Impaired vibratory sensation	0	DHTKD1 CL E G H	55526	23537	OMIM:615025	Charcot-Marie-Tooth disease, axonal, type 2Q		12
HP:0002495	HP:0002495	Impaired vibratory sensation	0	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		58
HP:0002495	HP:0002495	Impaired vibratory sensation	0	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive	.	12
HP:0002495	HP:0002495	Impaired vibratory sensation	0	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18		18
HP:0002495	HP:0002495	Impaired vibratory sensation	0	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A		7
HP:0002495	HP:0002495	Impaired vibratory sensation	0	FGF14 CL E G H	2259	3671	OMIM:193003	Nystagmus 4, congenital, autosomal dominant		47
HP:0002495	HP:0002495	Impaired vibratory sensation	0	FLRT1 CL E G H	23769	3760	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome
HP:0002495	HP:0002495	Impaired vibratory sensation	0	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa		111
HP:0002495	HP:0002495	Impaired vibratory sensation	0	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome		111
HP:0002495	HP:0002495	Impaired vibratory sensation	0	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome		30
HP:0002495	HP:0002495	Impaired vibratory sensation	0	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1	.	18
HP:0002495	HP:0002495	Impaired vibratory sensation	0	GARS1 CL E G H	2617	4162	ORPHA:139536	Distal hereditary motor neuropathy type 5	HP:0040282 - Frequent
HP:0002495	HP:0002495	Impaired vibratory sensation	0	GBA2 CL E G H	57704	18986	ORPHA:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity		30
HP:0002495	HP:0002495	Impaired vibratory sensation	0	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46		30
HP:0002495	HP:0002495	Impaired vibratory sensation	0	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive		30
HP:0002495	HP:0002495	Impaired vibratory sensation	0	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia		86
HP:0002495	HP:0002495	Impaired vibratory sensation	0	GCH1 CL E G H	2643	4193	OMIM:128230	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia		86
HP:0002495	HP:0002495	Impaired vibratory sensation	0	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness		108
HP:0002495	HP:0002495	Impaired vibratory sensation	0	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A		108
HP:0002495	HP:0002495	Impaired vibratory sensation	0	GDAP1 CL E G H	54332	15968	OMIM:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive		108
HP:0002495	HP:0002495	Impaired vibratory sensation	0	HARS1 CL E G H	3035	4816	ORPHA:488333	Autosomal dominant Charcot-Marie-Tooth disease type 2W
HP:0002495	HP:0002495	Impaired vibratory sensation	0	HAX1 CL E G H	10456	16915	OMIM:610738	NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3		32
HP:0002495	HP:0002495	Impaired vibratory sensation	0	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia		12
HP:0002495	HP:0002495	Impaired vibratory sensation	0	HK1 CL E G H	3098	4922	ORPHA:99953	Charcot-Marie-Tooth disease type 4G	HP:0040281 - Very frequent	11
HP:0002495	HP:0002495	Impaired vibratory sensation	0	HSPD1 CL E G H	3329	5261	ORPHA:100994	Autosomal dominant spastic paraplegia type 13		46
HP:0002495	HP:0002495	Impaired vibratory sensation	0	HSPD1 CL E G H	3329	5261	OMIM:605280	Spastic paraplegia 13, autosomal dominant		46
HP:0002495	HP:0002495	Impaired vibratory sensation	0	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia		1
HP:0002495	HP:0002495	Impaired vibratory sensation	0	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH		257
HP:0002495	HP:0002495	Impaired vibratory sensation	0	KCNC3 CL E G H	3748	6235	OMIM:605259	Spinocerebellar ataxia 13		17
HP:0002495	HP:0002495	Impaired vibratory sensation	0	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13		17
HP:0002495	HP:0002495	Impaired vibratory sensation	0	KCND3 CL E G H	3752	6239	ORPHA:98772	Spinocerebellar ataxia type 19/22		35
HP:0002495	HP:0002495	Impaired vibratory sensation	0	KIF1A CL E G H	547	888	OMIM:614213	Neuropathy, hereditary sensory, type IIC		276
HP:0002495	HP:0002495	Impaired vibratory sensation	0	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10		93
HP:0002495	HP:0002495	Impaired vibratory sensation	0	KIF5A CL E G H	3798	6323	OMIM:604187	Spastic paraplegia 10, autosomal dominant		93
HP:0002495	HP:0002495	Impaired vibratory sensation	0	KLC2 CL E G H	64837	20716	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome		1
HP:0002495	HP:0002495	Impaired vibratory sensation	0	KLHL9 CL E G H	55958	18732	ORPHA:399081	KLHL9-related early-onset distal myopathy		3
HP:0002495	HP:0002495	Impaired vibratory sensation	0	KPNA3 CL E G H	3839	6396	ORPHA:171612	Autosomal dominant spastic paraplegia type 37
HP:0002495	HP:0002495	Impaired vibratory sensation	0	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy		44
HP:0002495	HP:0002495	Impaired vibratory sensation	0	LRSAM1 CL E G H	90678	25135	OMIM:614436	Charcot-Marie-Tooth disease, axonal, type 2P		102
HP:0002495	HP:0002495	Impaired vibratory sensation	0	MAG CL E G H	4099	6783	ORPHA:459056	Autosomal recessive spastic paraplegia type 75	HP:0040281 - Very frequent	4
HP:0002495	HP:0002495	Impaired vibratory sensation	0	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive		4
HP:0002495	HP:0002495	Impaired vibratory sensation	0	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	HP:0040282 - Frequent	203
HP:0002495	HP:0002495	Impaired vibratory sensation	0	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040282 - Frequent	8
HP:0002495	HP:0002495	Impaired vibratory sensation	0	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z		8
HP:0002495	HP:0002495	Impaired vibratory sensation	0	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		134
HP:0002495	HP:0002495	Impaired vibratory sensation	0	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome	HP:0040282 - Frequent	134
HP:0002495	HP:0002495	Impaired vibratory sensation	0	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive
HP:0002495	HP:0002495	Impaired vibratory sensation	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040283 - Occasional	81
HP:0002495	HP:0002495	Impaired vibratory sensation	0	NEFH CL E G H	4744	7737	OMIM:616924	Charcot-Marie-Tooth disease, axonal, type 2CC		24
HP:0002495	HP:0002495	Impaired vibratory sensation	0	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040282 - Frequent	118
HP:0002495	HP:0002495	Impaired vibratory sensation	0	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E		118
HP:0002495	HP:0002495	Impaired vibratory sensation	0	NIPA1 CL E G H	123606	17043	ORPHA:100988	Autosomal dominant spastic paraplegia type 6	HP:0040281 - Very frequent	117
HP:0002495	HP:0002495	Impaired vibratory sensation	0	NIPA1 CL E G H	123606	17043	OMIM:600363	Spastic paraplegia 6, autosomal dominant		117
HP:0002495	HP:0002495	Impaired vibratory sensation	0	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia		27
HP:0002495	HP:0002495	Impaired vibratory sensation	0	PDK3 CL E G H	5165	8811	ORPHA:352675	X-linked Charcot-Marie-Tooth disease type 6		4
HP:0002495	HP:0002495	Impaired vibratory sensation	0	PDYN CL E G H	5173	8820	OMIM:610245	Spinocerebellar ataxia 23		52
HP:0002495	HP:0002495	Impaired vibratory sensation	0	PDYN CL E G H	5173	8820	ORPHA:101108	Spinocerebellar ataxia type 23		52
HP:0002495	HP:0002495	Impaired vibratory sensation	0	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B		75
HP:0002495	HP:0002495	Impaired vibratory sensation	0	PEX6 CL E G H	5190	8859	ORPHA:95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome		98
HP:0002495	HP:0002495	Impaired vibratory sensation	0	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84		11
HP:0002495	HP:0002495	Impaired vibratory sensation	0	PLEKHG4 CL E G H	25894	24501	ORPHA:98765	Spinocerebellar ataxia type 4	HP:0040281 - Very frequent	4
HP:0002495	HP:0002495	Impaired vibratory sensation	0	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040283 - Occasional	105
HP:0002495	HP:0002495	Impaired vibratory sensation	0	PMP2 CL E G H	5375	9117	OMIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G		1
HP:0002495	HP:0002495	Impaired vibratory sensation	0	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E		79
HP:0002495	HP:0002495	Impaired vibratory sensation	0	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		79
HP:0002495	HP:0002495	Impaired vibratory sensation	0	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome	HP:0040282 - Frequent	79
HP:0002495	HP:0002495	Impaired vibratory sensation	0	PNPT1 CL E G H	87178	23166	OMIM:608703	Spinocerebellar ataxia 25		60
HP:0002495	HP:0002495	Impaired vibratory sensation	0	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1		464
HP:0002495	HP:0002495	Impaired vibratory sensation	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive		464
HP:0002495	HP:0002495	Impaired vibratory sensation	0	POLG CL E G H	5428	9179	ORPHA:94125	Recessive mitochondrial ataxia syndrome	HP:0040282 - Frequent	464
HP:0002495	HP:0002495	Impaired vibratory sensation	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		464
HP:0002495	HP:0002495	Impaired vibratory sensation	0	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040282 - Frequent	464
HP:0002495	HP:0002495	Impaired vibratory sensation	0	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome		138
HP:0002495	HP:0002495	Impaired vibratory sensation	0	POLR3B CL E G H	55703	30348	OMIM:619742	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I		67
HP:0002495	HP:0002495	Impaired vibratory sensation	0	PRDM12 CL E G H	59335	13997	OMIM:616488	Neuropathy, hereditary sensory and autonomic, type VIII		6
HP:0002495	HP:0002495	Impaired vibratory sensation	0	PRKCG CL E G H	5582	9402	OMIM:605361	Spinocerebellar ataxia 14		83
HP:0002495	HP:0002495	Impaired vibratory sensation	0	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0002495	HP:0002495	Impaired vibratory sensation	0	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		170
HP:0002495	HP:0002495	Impaired vibratory sensation	0	REEP1 CL E G H	65055	25786	ORPHA:139536	Distal hereditary motor neuropathy type 5	HP:0040282 - Frequent	87
HP:0002495	HP:0002495	Impaired vibratory sensation	0	REEP2 CL E G H	51308	17975	ORPHA:401849	Autosomal spastic paraplegia type 72		3
HP:0002495	HP:0002495	Impaired vibratory sensation	0	RNF170 CL E G H	81790	25358	OMIM:619686	SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85		3
HP:0002495	HP:0002495	Impaired vibratory sensation	0	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12		25
HP:0002495	HP:0002495	Impaired vibratory sensation	0	RTN2 CL E G H	6253	10468	OMIM:604805	Spastic paraplegia 12, autosomal dominant		25
HP:0002495	HP:0002495	Impaired vibratory sensation	0	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay	HP:0040283 - Occasional	309
HP:0002495	HP:0002495	Impaired vibratory sensation	0	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type		309
HP:0002495	HP:0002495	Impaired vibratory sensation	0	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome		4
HP:0002495	HP:0002495	Impaired vibratory sensation	0	SAR1B CL E G H	51128	10535	OMIM:246700	Chylomicron retention disease	.	8
HP:0002495	HP:0002495	Impaired vibratory sensation	0	SCO2 CL E G H	9997	10604	ORPHA:521411	Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect		40
HP:0002495	HP:0002495	Impaired vibratory sensation	0	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1		162
HP:0002495	HP:0002495	Impaired vibratory sensation	0	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C		493
HP:0002495	HP:0002495	Impaired vibratory sensation	0	SLC12A6 CL E G H	9990	10914	OMIM:620068			163
HP:0002495	HP:0002495	Impaired vibratory sensation	0	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	HP:0040282 - Frequent	88
HP:0002495	HP:0002495	Impaired vibratory sensation	0	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome	.	88
HP:0002495	HP:0002495	Impaired vibratory sensation	0	SLC33A1 CL E G H	9197	95	ORPHA:171863	Autosomal dominant spastic paraplegia type 42		48
HP:0002495	HP:0002495	Impaired vibratory sensation	0	SORD CL E G H	6652	11184	OMIM:618912	SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD
HP:0002495	HP:0002495	Impaired vibratory sensation	0	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20	HP:0040282 - Frequent	66
HP:0002495	HP:0002495	Impaired vibratory sensation	0	SPAST CL E G H	6683	11233	ORPHA:100985	Autosomal dominant spastic paraplegia type 4		208
HP:0002495	HP:0002495	Impaired vibratory sensation	0	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant		208
HP:0002495	HP:0002495	Impaired vibratory sensation	0	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive		287
HP:0002495	HP:0002495	Impaired vibratory sensation	0	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive		171
HP:0002495	HP:0002495	Impaired vibratory sensation	0	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7		171
HP:0002495	HP:0002495	Impaired vibratory sensation	0	SPTBN2 CL E G H	6712	11276	OMIM:600224	Spinocerebellar ataxia 5	.	126
HP:0002495	HP:0002495	Impaired vibratory sensation	0	SPTLC2 CL E G H	9517	11278	OMIM:613640	Neuropathy, hereditary sensory and autonomic, type IC		149
HP:0002495	HP:0002495	Impaired vibratory sensation	0	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type	HP:0040284 - Very rare	1129
HP:0002495	HP:0002495	Impaired vibratory sensation	0	TDP1 CL E G H	55775	18884	ORPHA:94124	Spinocerebellar ataxia with axonal neuropathy type 1		52
HP:0002495	HP:0002495	Impaired vibratory sensation	0	TPP1 CL E G H	1200	2073	ORPHA:284324	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia	HP:0040282 - Frequent	203
HP:0002495	HP:0002495	Impaired vibratory sensation	0	TPP1 CL E G H	1200	2073	OMIM:609270	Spinocerebellar ataxia, autosomal recessive 7	.	203
HP:0002495	HP:0002495	Impaired vibratory sensation	0	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus	HP:0040284 - Very rare
HP:0002495	HP:0002495	Impaired vibratory sensation	0	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		113
HP:0002495	HP:0002495	Impaired vibratory sensation	0	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040282 - Frequent	113
HP:0002495	HP:0002495	Impaired vibratory sensation	0	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12
HP:0002495	HP:0002495	Impaired vibratory sensation	0	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive		21
HP:0002495	HP:0002495	Impaired vibratory sensation	0	VAMP1 CL E G H	6843	12642	ORPHA:251282	Autosomal dominant spastic ataxia type 1		2
HP:0002495	HP:0002495	Impaired vibratory sensation	0	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y		63
HP:0002495	HP:0002495	Impaired vibratory sensation	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040282 - Frequent	130
HP:0002495	HP:0002495	Impaired vibratory sensation	0	VPS37A CL E G H	137492	24928	ORPHA:319199	Autosomal recessive spastic paraplegia type 53	HP:0040283 - Occasional	7
HP:0002495	HP:0002495	Impaired vibratory sensation	0	VPS37A CL E G H	137492	24928	OMIM:614898	SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53		7
HP:0002495	HP:0002495	Impaired vibratory sensation	0	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8		83
HP:0002495	HP:0002495	Impaired vibratory sensation	0	WASHC5 CL E G H	9897	28984	OMIM:603563	Spastic paraplegia 8, autosomal dominant		83
HP:0002495	HP:0002495	Impaired vibratory sensation	0	WDR48 CL E G H	57599	30914	ORPHA:401800	Autosomal recessive spastic paraplegia type 60		1
HP:0002495	HP:0002495	Impaired vibratory sensation	0	XK CL E G H	7504	12811	OMIM:300842	Mcleod syndrome		8
HP:0002495	HP:0002495	Impaired vibratory sensation	0	XRCC1 CL E G H	7515	12828	OMIM:617633	Spinocerebellar ataxia, autosomal recessive 26		4
HP:0002495	HP:0002495	Impaired vibratory sensation	0	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15	HP:0040283 - Occasional	189
HP:0002495	HP:0006886	Impaired distal vibration sensation	1	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy		135
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy		135
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional	89
HP:0002495	HP:0006886	Impaired distal vibration sensation	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B		89
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B		89
HP:0002495	HP:0006886	Impaired distal vibration sensation	1	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive		89
HP:0002495	HP:0006886	Impaired distal vibration sensation	1	AMPD2 CL E G H	271	469	OMIM:615686	Spastic paraplegia 63, autosomal recessive		21
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	AMPD2 CL E G H	271	469	OMIM:615686	Spastic paraplegia 63, autosomal recessive		21
HP:0002495	HP:0006886	Impaired distal vibration sensation	1	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia		61
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	ARSI CL E G H	340075	32521	ORPHA:401815	Autosomal recessive spastic paraplegia type 66	HP:0040282 - Frequent	1
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant	.	71
HP:0002495	HP:0006886	Impaired distal vibration sensation	1	ATP1A1 CL E G H	476	799	OMIM:618036	Charcot-Marie-Tooth disease, axonal, type 2DD		4
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	ATP6 CL E G H	4508	7414	ORPHA:320360	MT-ATP6-related mitochondrial spastic paraplegia	HP:0040281 - Very frequent
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	B4GALNT1 CL E G H	2583	4117	ORPHA:101006	Autosomal recessive spastic paraplegia type 26		25
HP:0002495	HP:0006886	Impaired distal vibration sensation	1	B4GALNT1 CL E G H	2583	4117	ORPHA:101006	Autosomal recessive spastic paraplegia type 26		25
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17	.	105
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	CACNA1G CL E G H	8913	1394	OMIM:616795	Spinocerebellar ataxia 42		32
HP:0002495	HP:0006886	Impaired distal vibration sensation	1	CACNA1G CL E G H	8913	1394	OMIM:616795	Spinocerebellar ataxia 42		32
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42		32
HP:0002495	HP:0006886	Impaired distal vibration sensation	1	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42		32
HP:0002495	HP:0006886	Impaired distal vibration sensation	1	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF		1
HP:0002495	HP:0006886	Impaired distal vibration sensation	1	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset	HP:0040283 - Occasional	11
HP:0002495	HP:0006886	Impaired distal vibration sensation	1	CHP1 CL E G H	11261	17433	OMIM:618438	Spastic ataxia 9, autosomal recessive
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73	HP:0040282 - Frequent	1
HP:0002495	HP:0006886	Impaired distal vibration sensation	1	CPT1C CL E G H	126129	18540	OMIM:616282	Spastic paraplegia 73, autosomal dominant		1
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive		57
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	HP:0040283 - Occasional	60
HP:0002495	HP:0006886	Impaired distal vibration sensation	1	DCAF8 CL E G H	50717	24891	OMIM:610100	Giant axonal neuropathy, autosomal dominant	.	2
HP:0002495	HP:0006944	Abolished vibration sense	1	DDHD1 CL E G H	80821	19714	ORPHA:101008	Autosomal recessive spastic paraplegia type 28	HP:0040282 - Frequent	35
HP:0002495	HP:0006886	Impaired distal vibration sensation	1	DHH CL E G H	50846	2865	OMIM:607080	46,XY GONADAL DYSGENESIS, PARTIAL, WITH MINIFASCICULAR NEUROPATHY		21
HP:0002495	HP:0006886	Impaired distal vibration sensation	1	DHTKD1 CL E G H	55526	23537	OMIM:615025	Charcot-Marie-Tooth disease, axonal, type 2Q		12
HP:0002495	HP:0006886	Impaired distal vibration sensation	1	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		58
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18	HP:0040283 - Occasional	18
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional	7
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	FLRT1 CL E G H	23769	3760	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome	HP:0040282 - Frequent
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa		111
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome	HP:0040281 - Very frequent	111
HP:0002495	HP:0006886	Impaired distal vibration sensation	1	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome		30
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	GBA2 CL E G H	57704	18986	ORPHA:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity	HP:0040283 - Occasional	30
HP:0002495	HP:0006886	Impaired distal vibration sensation	1	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46		30
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46		30
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive	HP:0040283 - Occasional	30
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040283 - Occasional	86
HP:0002495	HP:0006886	Impaired distal vibration sensation	1	GCH1 CL E G H	2643	4193	OMIM:128230	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia		86
HP:0002495	HP:0006886	Impaired distal vibration sensation	1	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A		108
HP:0002495	HP:0006886	Impaired distal vibration sensation	1	GDAP1 CL E G H	54332	15968	OMIM:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive		108
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	HARS1 CL E G H	3035	4816	ORPHA:488333	Autosomal dominant Charcot-Marie-Tooth disease type 2W	HP:0040281 - Very frequent
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040283 - Occasional	12
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	HSPD1 CL E G H	3329	5261	ORPHA:100994	Autosomal dominant spastic paraplegia type 13	HP:0040282 - Frequent	46
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	HSPD1 CL E G H	3329	5261	OMIM:605280	Spastic paraplegia 13, autosomal dominant	.	46
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040283 - Occasional	1
HP:0002495	HP:0006886	Impaired distal vibration sensation	1	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH		257
HP:0002495	HP:0006886	Impaired distal vibration sensation	1	KCNC3 CL E G H	3748	6235	OMIM:605259	Spinocerebellar ataxia 13		17
HP:0002495	HP:0006886	Impaired distal vibration sensation	1	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13	HP:0040282 - Frequent	17
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	KCND3 CL E G H	3752	6239	ORPHA:98772	Spinocerebellar ataxia type 19/22		35
HP:0002495	HP:0006886	Impaired distal vibration sensation	1	KCND3 CL E G H	3752	6239	ORPHA:98772	Spinocerebellar ataxia type 19/22		35
HP:0002495	HP:0006886	Impaired distal vibration sensation	1	KIF1A CL E G H	547	888	OMIM:614213	Neuropathy, hereditary sensory, type IIC		276
HP:0002495	HP:0006886	Impaired distal vibration sensation	1	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10	HP:0040282 - Frequent	93
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	KIF5A CL E G H	3798	6323	OMIM:604187	Spastic paraplegia 10, autosomal dominant	.	93
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	KLC2 CL E G H	64837	20716	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome	HP:0040282 - Frequent	1
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	KLHL9 CL E G H	55958	18732	ORPHA:399081	KLHL9-related early-onset distal myopathy	HP:0040282 - Frequent	3
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	KPNA3 CL E G H	3839	6396	ORPHA:171612	Autosomal dominant spastic paraplegia type 37	HP:0040282 - Frequent
HP:0002495	HP:0006886	Impaired distal vibration sensation	1	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040283 - Occasional	44
HP:0002495	HP:0006886	Impaired distal vibration sensation	1	LRSAM1 CL E G H	90678	25135	OMIM:614436	Charcot-Marie-Tooth disease, axonal, type 2P	.	102
HP:0002495	HP:0006886	Impaired distal vibration sensation	1	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive		4
HP:0002495	HP:0006886	Impaired distal vibration sensation	1	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z		8
HP:0002495	HP:0006886	Impaired distal vibration sensation	1	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		134
HP:0002495	HP:0006886	Impaired distal vibration sensation	1	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive
HP:0002495	HP:0006886	Impaired distal vibration sensation	1	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E		118
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	NIPA1 CL E G H	123606	17043	OMIM:600363	Spastic paraplegia 6, autosomal dominant	.	117
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040283 - Occasional	27
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	PDK3 CL E G H	5165	8811	ORPHA:352675	X-linked Charcot-Marie-Tooth disease type 6	HP:0040282 - Frequent	4
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	PDYN CL E G H	5173	8820	OMIM:610245	Spinocerebellar ataxia 23	.	52
HP:0002495	HP:0006886	Impaired distal vibration sensation	1	PDYN CL E G H	5173	8820	ORPHA:101108	Spinocerebellar ataxia type 23	HP:0040282 - Frequent	52
HP:0002495	HP:0006886	Impaired distal vibration sensation	1	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B		75
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	PEX6 CL E G H	5190	8859	ORPHA:95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome	HP:0040282 - Frequent	98
HP:0002495	HP:0006886	Impaired distal vibration sensation	1	PMP2 CL E G H	5375	9117	OMIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G		1
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E	HP:0040282 - Frequent	79
HP:0002495	HP:0006886	Impaired distal vibration sensation	1	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		79
HP:0002495	HP:0006944	Abolished vibration sense	1	PNPT1 CL E G H	87178	23166	OMIM:608703	Spinocerebellar ataxia 25	.	60
HP:0002495	HP:0006886	Impaired distal vibration sensation	1	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	.	464
HP:0002495	HP:0006886	Impaired distal vibration sensation	1	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	.	464
HP:0002495	HP:0006886	Impaired distal vibration sensation	1	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.	464
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome	HP:0040283 - Occasional	138
HP:0002495	HP:0006886	Impaired distal vibration sensation	1	POLR3B CL E G H	55703	30348	OMIM:619742	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I		67
HP:0002495	HP:0006886	Impaired distal vibration sensation	1	PRKCG CL E G H	5582	9402	OMIM:605361	Spinocerebellar ataxia 14		83
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	PRKCG CL E G H	5582	9402	OMIM:605361	Spinocerebellar ataxia 14		83
HP:0002495	HP:0006886	Impaired distal vibration sensation	1	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		170
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	REEP2 CL E G H	51308	17975	ORPHA:401849	Autosomal spastic paraplegia type 72		3
HP:0002495	HP:0006886	Impaired distal vibration sensation	1	REEP2 CL E G H	51308	17975	ORPHA:401849	Autosomal spastic paraplegia type 72		3
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040282 - Frequent	25
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	RTN2 CL E G H	6253	10468	OMIM:604805	Spastic paraplegia 12, autosomal dominant	.	25
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type		309
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome	.	4
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	SCO2 CL E G H	9997	10604	ORPHA:521411	Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect	HP:0040282 - Frequent	40
HP:0002495	HP:0006886	Impaired distal vibration sensation	1	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1		162
HP:0002495	HP:0006886	Impaired distal vibration sensation	1	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C	HP:0040282 - Frequent	493
HP:0002495	HP:0006944	Abolished vibration sense	1	SLC12A6 CL E G H	9990	10914	OMIM:620068			163
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	SLC33A1 CL E G H	9197	95	ORPHA:171863	Autosomal dominant spastic paraplegia type 42	HP:0040282 - Frequent	48
HP:0002495	HP:0006886	Impaired distal vibration sensation	1	SPAST CL E G H	6683	11233	ORPHA:100985	Autosomal dominant spastic paraplegia type 4		208
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	SPAST CL E G H	6683	11233	ORPHA:100985	Autosomal dominant spastic paraplegia type 4		208
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant	.	208
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.	287
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive		171
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7	HP:0040282 - Frequent	171
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	SPTLC2 CL E G H	9517	11278	OMIM:613640	Neuropathy, hereditary sensory and autonomic, type IC		149
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	TDP1 CL E G H	55775	18884	ORPHA:94124	Spinocerebellar ataxia with axonal neuropathy type 1	HP:0040282 - Frequent	52
HP:0002495	HP:0006886	Impaired distal vibration sensation	1	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.	113
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040282 - Frequent
HP:0002495	HP:0006886	Impaired distal vibration sensation	1	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive		21
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive		21
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	VAMP1 CL E G H	6843	12642	ORPHA:251282	Autosomal dominant spastic ataxia type 1	HP:0040283 - Occasional	2
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y	HP:0040282 - Frequent	63
HP:0002495	HP:0006944	Abolished vibration sense	1	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y	HP:0040283 - Occasional	63
HP:0002495	HP:0006886	Impaired distal vibration sensation	1	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y	HP:0040283 - Occasional	63
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8	HP:0040282 - Frequent	83
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	WASHC5 CL E G H	9897	28984	OMIM:603563	Spastic paraplegia 8, autosomal dominant	.	83
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	WDR48 CL E G H	57599	30914	ORPHA:401800	Autosomal recessive spastic paraplegia type 60	HP:0040282 - Frequent	1
HP:0002495	HP:0006886	Impaired distal vibration sensation	1	XK CL E G H	7504	12811	OMIM:300842	Mcleod syndrome		8
HP:0002495	HP:0002166	Impaired vibration sensation in the lower limbs	1	XK CL E G H	7504	12811	OMIM:300842	Mcleod syndrome		8
HP:0002495	HP:0006886	Impaired distal vibration sensation	1	XRCC1 CL E G H	7515	12828	OMIM:617633	Spinocerebellar ataxia, autosomal recessive 26		4
HP:0002495	HP:0006938	Impaired vibration sensation at ankles	2	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy		135
HP:0002495	HP:0006938	Impaired vibration sensation at ankles	2	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B	HP:0040283 - Occasional	89
HP:0002495	HP:0006938	Impaired vibration sensation at ankles	2	AMPD2 CL E G H	271	469	OMIM:615686	Spastic paraplegia 63, autosomal recessive		21
HP:0002495	HP:0006938	Impaired vibration sensation at ankles	2	B4GALNT1 CL E G H	2583	4117	ORPHA:101006	Autosomal recessive spastic paraplegia type 26	HP:0040283 - Occasional	25
HP:0002495	HP:0006938	Impaired vibration sensation at ankles	2	CACNA1G CL E G H	8913	1394	OMIM:616795	Spinocerebellar ataxia 42		32
HP:0002495	HP:0006938	Impaired vibration sensation at ankles	2	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42	HP:0040282 - Frequent	32
HP:0002495	HP:0006938	Impaired vibration sensation at ankles	2	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46	HP:0040283 - Occasional	30
HP:0002495	HP:0006938	Impaired vibration sensation at ankles	2	KCND3 CL E G H	3752	6239	ORPHA:98772	Spinocerebellar ataxia type 19/22	HP:0040282 - Frequent	35
HP:0002495	HP:0006938	Impaired vibration sensation at ankles	2	PRKCG CL E G H	5582	9402	OMIM:605361	Spinocerebellar ataxia 14	.	83
HP:0002495	HP:0006938	Impaired vibration sensation at ankles	2	REEP2 CL E G H	51308	17975	ORPHA:401849	Autosomal spastic paraplegia type 72	HP:0040283 - Occasional	3
HP:0002495	HP:0006938	Impaired vibration sensation at ankles	2	SPAST CL E G H	6683	11233	ORPHA:100985	Autosomal dominant spastic paraplegia type 4	HP:0040282 - Frequent	208
HP:0002495	HP:0006938	Impaired vibration sensation at ankles	2	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive		21
HP:0002495	HP:0006938	Impaired vibration sensation at ankles	2	XK CL E G H	7504	12811	OMIM:300842	Mcleod syndrome		8

Genes (121) :ABCD1 ALDH18A1 AMPD2 APTX ARSI ATL1 ATP13A2 ATP1A1 ATP6 ATXN1 ATXN2 ATXN3 ATXN8 ATXN8OS B4GALNT1 BEAN1 BSCL2 C19ORF12 CACNA1G CADM3 CHCHD10 CHP1 CPT1C CYP7B1 DARS2 DCAF8 DDHD1 DHH DHTKD1 EGR2 ERBB3 ERLIN2 FAR1 FGF14 FLRT1 FLVCR1 FMR1 FXN GARS1 GBA2 GCH1 GDAP1 HARS1 HAX1 HINT1 HK1 HSPD1 IMPDH2 JAG1 KCNC3 KCND3 KIF1A KIF5A KLC2 KLHL9 KPNA3 LMNB1 LRSAM1 MAG MFN2 MORC2 MPZ MTRFR MTTP NEFH NEFL NIPA1 NR4A2 PDK3 PDYN PEX10 PEX6 PI4KA PLEKHG4 PLOD1 PMP2 PMP22 PNPT1 POLG POLR3A POLR3B PRDM12 PRKCG PRORP PRX REEP1 REEP2 RNF170 RTN2 SACS SAMD9L SAR1B SCO2 SETX SH3TC2 SLC12A6 SLC25A15 SLC33A1 SORD SPART SPAST SPG11 SPG7 SPTBN2 SPTLC2 SYNE1 TDP1 TPP1 TRNE TWNK UBAP1 UCHL1 VAMP1 VCP VPS13A VPS37A WASHC5 WDR48 XK XRCC1 ZFYVE26

Diseases (145) :OMIM:300100 ORPHA:447753 ORPHA:447760 OMIM:601162 OMIM:616586 OMIM:615686 OMIM:208920 ORPHA:401815 ORPHA:100984 OMIM:182600 OMIM:617225 OMIM:618036 ORPHA:320360 OMIM:164400 OMIM:183090 OMIM:109150 ORPHA:98760 ORPHA:101006 ORPHA:217012 ORPHA:139536 OMIM:270685 ORPHA:320370 OMIM:616795 ORPHA:458803 OMIM:619519 ORPHA:276435 OMIM:618438 ORPHA:444099 OMIM:616282 ORPHA:100986 OMIM:270800 ORPHA:137898 OMIM:610100 ORPHA:101008 OMIM:607080 OMIM:615025 OMIM:145900 OMIM:243180 ORPHA:209951 OMIM:193003 ORPHA:320406 OMIM:609033 ORPHA:88628 OMIM:300623 OMIM:229300 ORPHA:352641 ORPHA:320391 OMIM:614409 ORPHA:98808 OMIM:128230 ORPHA:101097 ORPHA:99948 OMIM:607706 ORPHA:488333 OMIM:610738 ORPHA:324442 ORPHA:99953 ORPHA:100994 OMIM:605280 OMIM:619574 OMIM:605259 ORPHA:98768 ORPHA:98772 OMIM:614213 ORPHA:100991 OMIM:604187 ORPHA:399081 ORPHA:171612 ORPHA:99027 OMIM:614436 ORPHA:459056 OMIM:616680 ORPHA:99947 ORPHA:466768 OMIM:616688 ORPHA:3115 OMIM:615035 ORPHA:14 OMIM:616924 ORPHA:101085 OMIM:607684 ORPHA:100988 OMIM:600363 ORPHA:352675 OMIM:610245 ORPHA:101108 OMIM:614871 ORPHA:95433 OMIM:619621 ORPHA:98765 ORPHA:1900 OMIM:618279 ORPHA:90658 OMIM:608703 OMIM:157640 OMIM:258450 ORPHA:94125 OMIM:607459 ORPHA:70595 ORPHA:447896 OMIM:619742 OMIM:616488 OMIM:605361 OMIM:619737 ORPHA:401849 OMIM:619686 ORPHA:100993 OMIM:604805 ORPHA:98 OMIM:270550 OMIM:159550 OMIM:246700 ORPHA:521411 OMIM:606002 ORPHA:99949 OMIM:620068 ORPHA:415 OMIM:238970 ORPHA:171863 OMIM:618912 ORPHA:101000 ORPHA:100985 OMIM:182601 OMIM:604360 OMIM:607259 ORPHA:99013 OMIM:600224 OMIM:613640 ORPHA:88644 ORPHA:94124 ORPHA:284324 OMIM:609270 ORPHA:2596 OMIM:615491 ORPHA:251282 ORPHA:435387 ORPHA:2388 ORPHA:319199 OMIM:614898 ORPHA:100989 OMIM:603563 ORPHA:401800 OMIM:300842 OMIM:617633 ORPHA:100996

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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