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 physiology (HP:0011804)

Parent Node:
EMG abnormality (HP:0003457)

..Starting node
..EMG: myotonic discharges (HP:0100284)

Term ID:

100284

Name:

EMG: myotonic discharges

Synonym:

Definition:

High frequency discharges in electromyography (EMG) that vary in amplitude and frequency, waxing and waning continuously with firing frequencies ranging from 150/second down to 20/second and producing a sound that has been referred to as a dive bomber sound.

Comments:

Reference:

HP:0100284

Genes and Diseases:

Child Nodes:

Sister Nodes:

EMG: axonal abnormality (HP:0003482)

EMG: continuous motor unit activity at rest (HP:0100283)

EMG: impaired neuromuscular transmission (HP:0100285)

EMG: myokymic discharges (HP:0100288)

EMG: myopathic abnormalities (HP:0003458)

EMG: neuropathic changes (HP:0003445)

EMG: repetitive nerve stimulation abnormality (HP:0030000)

EMG: slow motor conduction (HP:0100287)

Single fiber EMG abnormality (HP:0030006)

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:0100284	HP:0100284	EMG: myotonic discharges	0	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant		167
HP:0100284	HP:0100284	EMG: myotonic discharges	0	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy	HP:0040282 - Frequent	173
HP:0100284	HP:0100284	EMG: myotonic discharges	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1		345
HP:0100284	HP:0100284	EMG: myotonic discharges	0	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0100284	HP:0100284	EMG: myotonic discharges	0	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant		7
HP:0100284	HP:0100284	EMG: myotonic discharges	0	SCN4A CL E G H	6329	10591	ORPHA:99734	Myotonia fluctuans	HP:0040281 - Very frequent	263
HP:0100284	HP:0100284	EMG: myotonic discharges	0	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5	HP:0040282 - Frequent	83

Genes (7) :DNM2 GNE HSPG2 LRP12 MTMR14 SCN4A SGCG

Diseases (6) :OMIM:160150 ORPHA:602 OMIM:255800 OMIM:164310 ORPHA:99734 ORPHA:353

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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