Human Phenotype Ontology

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:
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
..Abnormality of central somatosensory evoked potentials (HP:0100291)

Term ID:

100291

Name:

Abnormality of central somatosensory evoked potentials

Synonym:

Definition:

Comments:

Reference:

HP:0100291

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of peripheral somatosensory evoked potentials (HP:0100290)

Enhancement of the C-reflex (HP:0001340)

Giant somatosensory evoked potentials (HP:0001312)

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:0100291	HP:0100291	Abnormality of central somatosensory evoked potentials	0	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040282 - Frequent	135
HP:0100291	HP:0100291	Abnormality of central somatosensory evoked potentials	0	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis		114
HP:0100291	HP:0100291	Abnormality of central somatosensory evoked potentials	0	TTPA CL E G H	7274	12404	OMIM:277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF		62

Genes (3) :ABCD1 CYP27A1 TTPA

Diseases (3) :ORPHA:139399 OMIM:213700 OMIM:277460

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