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:
EMG abnormality (HP:0003457)

Parent Node:
EMG: axonal abnormality (HP:0003482)

..Starting node
..EMG: positive sharp waves (HP:0030007)

Term ID:

30007

Name:

EMG: positive sharp waves

Synonym:

Definition:

These are spontaneous firing action potentials stimulated by needle movement of an injured muscle fiber. There is propagation to, but not past, the needle tip. This inhibits the display of the negative deflection of the waveform.

Comments:

Reference:

HP:0030007

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0030007	HP:0030007	EMG: positive sharp waves	0	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0030007	HP:0030007	EMG: positive sharp waves	0	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant		167
HP:0030007	HP:0030007	EMG: positive sharp waves	0	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy	HP:0040282 - Frequent	173
HP:0030007	HP:0030007	EMG: positive sharp waves	0	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant		7
HP:0030007	HP:0030007	EMG: positive sharp waves	0	NR4A2 CL E G H	4929	7981	OMIM:619911			27
HP:0030007	HP:0030007	EMG: positive sharp waves	0	OPTN CL E G H	10133	17142	OMIM:613435	Amyotrophic lateral sclerosis 12		62
HP:0030007	HP:0030007	EMG: positive sharp waves	0	SETX CL E G H	23064	445	OMIM:602433	Amyotrophic lateral sclerosis 4, juvenile		162
HP:0030007	HP:0030007	EMG: positive sharp waves	0	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5	HP:0040282 - Frequent	83
HP:0030007	HP:0030007	EMG: positive sharp waves	0	TFG CL E G H	10342	11758	ORPHA:90117	Hereditary motor and sensory neuropathy, Okinawa type	HP:0040282 - Frequent	18

Genes (9) :ANXA11 DNM2 GNE MTMR14 NR4A2 OPTN SETX SGCG TFG

Diseases (8) :OMIM:619733 OMIM:160150 ORPHA:602 OMIM:619911 OMIM:613435 OMIM:602433 ORPHA:353 ORPHA:90117

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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