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 muscle physiology (HP:0011804)

Parent Node:
EMG abnormality (HP:0003457)

..Starting node
..EMG: slow motor conduction (HP:0100287)

Term ID:

100287

Name:

EMG: slow motor conduction

Synonym:

Definition:

The presence of reduced conduction velocity of motor nerves on electromyography.

Comments:

Reference:

HP:0100287

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: myotonic discharges (HP:0100284)

EMG: neuropathic changes (HP:0003445)

EMG: repetitive nerve stimulation abnormality (HP:0030000)

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:0100287	HP:0100287	EMG: slow motor conduction	0	ATL1 CL E G H	51062	11231	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040283 - Occasional	71
HP:0100287	HP:0100287	EMG: slow motor conduction	0	ATL3 CL E G H	25923	24526	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040283 - Occasional	5
HP:0100287	HP:0100287	EMG: slow motor conduction	0	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome	HP:0040282 - Frequent	3
HP:0100287	HP:0100287	EMG: slow motor conduction	0	SPTLC1 CL E G H	10558	11277	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040283 - Occasional	54
HP:0100287	HP:0100287	EMG: slow motor conduction	0	SPTLC2 CL E G H	9517	11278	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040283 - Occasional	149

Genes (5) :ATL1 ATL3 DMXL2 SPTLC1 SPTLC2

Diseases (2) :ORPHA:36386 ORPHA:453533

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.