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
..Enhancement of the C-reflex (HP:0001340)

Term ID:

1340

Name:

Enhancement of the C-reflex

Synonym:

Definition:

Increase in amplitude of a long-loop response upon somatosensory evoked potential testing, representing an electrically evoked myoclonic response.

Comments:

Reference:

HP:0001340

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of central somatosensory evoked potentials (HP:0100291)

Abnormality of peripheral somatosensory evoked potentials (HP:0100290)

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:0001340	HP:0001340	Enhancement of the C-reflex	0	MARCHF6 CL E G H	10299	30550	OMIM:613608	Epilepsy, familial adult myoclonic, 3	.
HP:0001340	HP:0001340	Enhancement of the C-reflex	0	SAMD12 CL E G H	401474	31750	OMIM:601068	Epilepsy, familial adult myoclonic, 1		2
HP:0001340	HP:0001340	Enhancement of the C-reflex	0	STARD7 CL E G H	56910	18063	OMIM:607876	Epilepsy, familial adult myoclonic, 2	.
HP:0001340	HP:0001340	Enhancement of the C-reflex	0	YEATS2 CL E G H	55689	25489	OMIM:615127	Epilepsy, familial adult myoclonic, 4	.	1

Genes (4) :MARCHF6 SAMD12 STARD7 YEATS2

Diseases (4) :OMIM:613608 OMIM:601068 OMIM:607876 OMIM:615127

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