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:
Abnormal visual electrophysiology (HP:0030453)

Parent Node:
Abnormal electroretinogram (HP:0000512)

..Starting node
..Abnormal multifocal electroretinogram (HP:0030468)

Term ID:

30468

Name:

Abnormal multifocal electroretinogram

Synonym:

Definition:

Comments:

Reference:

HP:0030468

Genes and Diseases:

Child Nodes:

........

Abnormal central response of multifocal electroretinogram (HP:0030488)

........

Abnormal paracentral response of multifocal electroretinogram (HP:0030489)

Sister Nodes:

Abnormal full-field electroretinogram (HP:0030466)

Abnormal pattern electroretinogram (HP:0030467)

Undetectable electroretinogram (HP:0000550)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030468	HP:0030468	Abnormal multifocal electroretinogram	0	RP1L1 CL E G H	94137	15946	OMIM:613587	OCCULT MACULAR DYSTROPHY; OCMD	284
HP:0030468	HP:0030489	Abnormal paracentral response of multifocal electroretinogram	1	CL E G H
HP:0030468	HP:0030488	Abnormal central response of multifocal electroretinogram	1	CL E G H

Genes (1) :RP1L1

Diseases (1) :OMIM:613587

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