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

Grandparent Node:
Abnormality of peripheral nervous system electrophysiology (HP:0030177)

Parent Node:
Abnormality of somatosensory evoked potentials (HP:0007377)

..Starting node
..Giant somatosensory evoked potentials (HP:0001312)

Term ID:

1312

Name:

Giant somatosensory evoked potentials

Synonym:

Giant SEPS

Definition:

An abnormal enlargement (i.e. increase in measured voltage) of somatosensory evoked potentials.

Comments:

Reference:

HP:0001312

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of central somatosensory evoked potentials (HP:0100291)

Abnormality of peripheral somatosensory evoked potentials (HP:0100290)

Enhancement of the C-reflex (HP:0001340)

Prolonged somatosensory evoked potentials (HP:0007104)

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:0001312	HP:0001312	Giant somatosensory evoked potentials	0	EPM2A CL E G H	7957	3413	ORPHA:501	Lafora disease	HP:0040282 - Frequent	83
HP:0001312	HP:0001312	Giant somatosensory evoked potentials	0	MARCHF6 CL E G H	10299	30550	OMIM:613608	Epilepsy, familial adult myoclonic, 3	.
HP:0001312	HP:0001312	Giant somatosensory evoked potentials	0	NHLRC1 CL E G H	378884	21576	ORPHA:501	Lafora disease	HP:0040282 - Frequent	77
HP:0001312	HP:0001312	Giant somatosensory evoked potentials	0	SAMD12 CL E G H	401474	31750	OMIM:601068	Epilepsy, familial adult myoclonic, 1		2
HP:0001312	HP:0001312	Giant somatosensory evoked potentials	0	SEMA6B CL E G H	10501	10739	OMIM:618876	EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0001312	HP:0001312	Giant somatosensory evoked potentials	0	STARD7 CL E G H	56910	18063	OMIM:607876	Epilepsy, familial adult myoclonic, 2	.

Genes (6) :EPM2A MARCHF6 NHLRC1 SAMD12 SEMA6B STARD7

Diseases (5) :ORPHA:501 OMIM:613608 OMIM:601068 OMIM:618876 OMIM:607876

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