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 peripheral myelination (HP:0003130)

Parent Node:
Decreased number of peripheral myelinated nerve fibers (HP:0003380)

..Starting node
..Decreased number of large peripheral myelinated nerve fibers (HP:0003387)

Term ID:

3387

Name:

Decreased number of large peripheral myelinated nerve fibers

Synonym:

Decreased number of large peripheral myelinated nerve fibres; Depletion of large myelinated fibers; Depletion of large myelinated fibres; Loss of large myelinated fibers; Loss of large myelinated fibres; Loss of larger myelinated nerve fibers; Loss of larger myelinated nerve fibres

Definition:

A reduced number of large myelinated nerve fibers.

Comments:

Reference:

HP:0003387

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased number of small peripheral myelinated nerve fibers (HP:0007249)

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:0003387	HP:0003387	Decreased number of large peripheral myelinated nerve fibers	0	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	.	61
HP:0003387	HP:0003387	Decreased number of large peripheral myelinated nerve fibers	0	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III	.	133
HP:0003387	HP:0003387	Decreased number of large peripheral myelinated nerve fibers	0	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A		108
HP:0003387	HP:0003387	Decreased number of large peripheral myelinated nerve fibers	0	GDAP1 CL E G H	54332	15968	OMIM:608340	Charcot-Marie-Tooth disease, recessive intermediate A	.	108
HP:0003387	HP:0003387	Decreased number of large peripheral myelinated nerve fibers	0	HK1 CL E G H	3098	4922	OMIM:605285	Neuropathy, hereditary motor and sensory, Russe type	.	11
HP:0003387	HP:0003387	Decreased number of large peripheral myelinated nerve fibers	0	HSPB8 CL E G H	26353	30171	OMIM:608673	Charcot-Marie-Tooth disease, axonal, type 2L	.	38
HP:0003387	HP:0003387	Decreased number of large peripheral myelinated nerve fibers	0	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent	1
HP:0003387	HP:0003387	Decreased number of large peripheral myelinated nerve fibers	0	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1		645
HP:0003387	HP:0003387	Decreased number of large peripheral myelinated nerve fibers	0	MME CL E G H	4311	7154	ORPHA:497764	Spinocerebellar ataxia type 43	HP:0040282 - Frequent	18
HP:0003387	HP:0003387	Decreased number of large peripheral myelinated nerve fibers	0	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040282 - Frequent	118
HP:0003387	HP:0003387	Decreased number of large peripheral myelinated nerve fibers	0	PLEKHG5 CL E G H	57449	29105	OMIM:615376	Charcot-Marie-Tooth disease, recessive intermediate C	.	186
HP:0003387	HP:0003387	Decreased number of large peripheral myelinated nerve fibers	0	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25	HP:0040282 - Frequent	60
HP:0003387	HP:0003387	Decreased number of large peripheral myelinated nerve fibers	0	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent	464
HP:0003387	HP:0003387	Decreased number of large peripheral myelinated nerve fibers	0	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F	.	170
HP:0003387	HP:0003387	Decreased number of large peripheral myelinated nerve fibers	0	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent	125
HP:0003387	HP:0003387	Decreased number of large peripheral myelinated nerve fibers	0	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type		309
HP:0003387	HP:0003387	Decreased number of large peripheral myelinated nerve fibers	0	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C	.	493
HP:0003387	HP:0003387	Decreased number of large peripheral myelinated nerve fibers	0	SPTLC1 CL E G H	10558	11277	OMIM:162400	Neuropathy, hereditary sensory and autonomic, type IA	.	54
HP:0003387	HP:0003387	Decreased number of large peripheral myelinated nerve fibers	0	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent	138

Genes (18) :APTX ELP1 GDAP1 HK1 HSPB8 LIG3 LMNA MME NEFL PLEKHG5 PNPT1 POLG PRX RRM2B SACS SH3TC2 SPTLC1 TYMP

Diseases (16) :OMIM:208920 OMIM:223900 ORPHA:99948 OMIM:608340 OMIM:605285 OMIM:608673 ORPHA:298 ORPHA:98856 ORPHA:497764 ORPHA:101085 OMIM:615376 ORPHA:101111 OMIM:614895 OMIM:270550 OMIM:601596 OMIM:162400

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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