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 nervous system electrophysiology (HP:0001311)

Parent Node:
Abnormality of central nervous system electrophysiology (HP:0030178)

..Starting node
..Abnormal motor evoked potentials (HP:0012896)

Term ID:

12896

Name:

Abnormal motor evoked potentials

Synonym:

Definition:

An anomaly identified by motor evoked potentials (MEPs). MEPs are measured following single-pulse or repetitive transcranial magnetic stimulation and can be used for the assessment of the excitability of the motor cortex and the integrity of conduction along the central and peripheral motor pathways.

Comments:

Reference:

HP:0012896

Genes and Diseases:

Child Nodes:

........

Abnormal upper-limb motor evoked potentials (HP:0012897)

........

Abnormal lower-limb motor evoked potentials (HP:0012898)

Sister Nodes:

Abnormal auditory evoked potentials (HP:0006958)

Abnormality of somatosensory evoked potentials (HP:0007377)

EEG abnormality (HP:0002353)

Jerk-locked premyoclonus spikes (HP:0001351)

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:0012896	HP:0012896	Abnormal motor evoked potentials	0	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73		1
HP:0012896	HP:0012896	Abnormal motor evoked potentials	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040282 - Frequent	114
HP:0012896	HP:0012896	Abnormal motor evoked potentials	0	GJC2 CL E G H	57165	17494	ORPHA:320401	Autosomal recessive spastic paraplegia type 44	HP:0040281 - Very frequent	37
HP:0012896	HP:0012896	Abnormal motor evoked potentials	0	NEFL CL E G H	4747	7739	ORPHA:99939	Autosomal dominant Charcot-Marie-Tooth disease type 2E	HP:0040282 - Frequent	118
HP:0012896	HP:0012896	Abnormal motor evoked potentials	0	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay	HP:0040282 - Frequent	309
HP:0012896	HP:0012896	Abnormal motor evoked potentials	0	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040282 - Frequent	14
HP:0012896	HP:0012897	Abnormal upper-limb motor evoked potentials	1	CL E G H
HP:0012896	HP:0012898	Abnormal lower-limb motor evoked potentials	1	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73	HP:0040282 - Frequent	1

Genes (6) :CPT1C CYP27A1 GJC2 NEFL SACS STUB1

Diseases (6) :ORPHA:444099 ORPHA:909 ORPHA:320401 ORPHA:99939 ORPHA:98 ORPHA:412057

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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