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 nerve conduction velocity (HP:0040129)

Parent Node:
Abnormal sensory nerve conduction velocity (HP:0040132)

Parent Node:
Decreased nerve conduction velocity (HP:0000762)

..Starting node
..Decreased sensory nerve conduction velocity (HP:0003448)

Term ID:

3448

Name:

Decreased sensory nerve conduction velocity

Synonym:

Decreased sensory NCV; Decreased sensory nerve conduction velocities

Definition:

Reduced speed of conduction of the action potential along a sensory nerve.

Comments:

Reference:

HP:0003448

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased motor nerve conduction velocity (HP:0003431)

Motor conduction block (HP:0012078)

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:0003448	HP:0003448	Decreased sensory nerve conduction velocity	0	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1		19
HP:0003448	HP:0003448	Decreased sensory nerve conduction velocity	0	DNAJC3 CL E G H	5611	9439	OMIM:616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus		3
HP:0003448	HP:0003448	Decreased sensory nerve conduction velocity	0	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		58
HP:0003448	HP:0003448	Decreased sensory nerve conduction velocity	0	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa		111
HP:0003448	HP:0003448	Decreased sensory nerve conduction velocity	0	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1		18
HP:0003448	HP:0003448	Decreased sensory nerve conduction velocity	0	GDAP1 CL E G H	54332	15968	OMIM:214400	Charcot-Marie-Tooth disease, type 4A		108
HP:0003448	HP:0003448	Decreased sensory nerve conduction velocity	0	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0003448	HP:0003448	Decreased sensory nerve conduction velocity	0	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	276
HP:0003448	HP:0003448	Decreased sensory nerve conduction velocity	0	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent	1
HP:0003448	HP:0003448	Decreased sensory nerve conduction velocity	0	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A		203
HP:0003448	HP:0003448	Decreased sensory nerve conduction velocity	0	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		134
HP:0003448	HP:0003448	Decreased sensory nerve conduction velocity	0	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55	HP:0040282 - Frequent
HP:0003448	HP:0003448	Decreased sensory nerve conduction velocity	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0003448	HP:0003448	Decreased sensory nerve conduction velocity	0	NOTCH2NLC CL E G H	100996717	53924	OMIM:603472	NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0003448	HP:0003448	Decreased sensory nerve conduction velocity	0	PMP22 CL E G H	5376	9118	ORPHA:101081	Charcot-Marie-Tooth disease type 1A	HP:0040282 - Frequent	79
HP:0003448	HP:0003448	Decreased sensory nerve conduction velocity	0	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		79
HP:0003448	HP:0003448	Decreased sensory nerve conduction velocity	0	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent	464
HP:0003448	HP:0003448	Decreased sensory nerve conduction velocity	0	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		170
HP:0003448	HP:0003448	Decreased sensory nerve conduction velocity	0	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease	HP:0040283 - Occasional	6
HP:0003448	HP:0003448	Decreased sensory nerve conduction velocity	0	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	54
HP:0003448	HP:0003448	Decreased sensory nerve conduction velocity	0	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent	125
HP:0003448	HP:0003448	Decreased sensory nerve conduction velocity	0	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type		309
HP:0003448	HP:0003448	Decreased sensory nerve conduction velocity	0	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	318
HP:0003448	HP:0003448	Decreased sensory nerve conduction velocity	0	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy	.	163
HP:0003448	HP:0003448	Decreased sensory nerve conduction velocity	0	SPTLC1 CL E G H	10558	11277	OMIM:162400	Neuropathy, hereditary sensory and autonomic, type IA	.	54
HP:0003448	HP:0003448	Decreased sensory nerve conduction velocity	0	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent	138
HP:0003448	HP:0003448	Decreased sensory nerve conduction velocity	0	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	199
HP:0003448	HP:0003448	Decreased sensory nerve conduction velocity	0	YARS1 CL E G H	8565	12840	OMIM:608323	Charcot-Marie-Tooth disease, dominant intermediate C

Genes (27) :ATXN1 DNAJC3 EGR2 FLVCR1 FXN GDAP1 HPDL KIF1A LIG3 MFN2 MPZ MTRFR NGLY1 NOTCH2NLC PMP22 POLG PRX PTRH2 RETREG1 RRM2B SACS SCN9A SLC12A6 SPTLC1 TYMP WNK1 YARS1

Diseases (19) :OMIM:164400 OMIM:616192 OMIM:145900 OMIM:609033 OMIM:229300 OMIM:214400 OMIM:619026 OMIM:201300 ORPHA:298 OMIM:609260 ORPHA:320375 OMIM:615273 OMIM:603472 ORPHA:101081 ORPHA:456312 OMIM:270550 OMIM:218000 OMIM:162400 OMIM:608323

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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