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 visual evoked potentials (HP:0000649)

Parent Node:
Abnormality of pattern visual evoked potentials (HP:0030455)

..Starting node
..Abnormality of pattern onset/offset visual evoked potentials (HP:0030456)

Term ID:

30456

Name:

Abnormality of pattern onset/offset visual evoked potentials

Synonym:

Abnormality of pattern onset/offset VEP

Definition:

Comments:

Reference:

HP:0030456

Genes and Diseases:

Child Nodes:

........

Abnormal amplitude of pattern onset/offset visual evoked potentials (HP:0030457)

........

Abnormal timing of pattern onset/offset visual evoked potentials (HP:0030458)

Sister Nodes:

Abnormality of pattern reversal visual evoked potentials (HP:0100289)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030456	HP:0030456	Abnormality of pattern onset/offset visual evoked potentials	0	CL E G H
HP:0030456	HP:0030458	Abnormal timing of pattern onset/offset visual evoked potentials	1	CL E G H
HP:0030456	HP:0030457	Abnormal amplitude of pattern onset/offset visual evoked potentials	1	CL E G H

Genes (0) :

Diseases (0) :

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