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 visual evoked potentials (HP:0000649)

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

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

Term ID:

100289

Name:

Abnormality of pattern reversal visual evoked potentials

Synonym:

Abnormality of pattern reversal VEP

Definition:

Comments:

Reference:

HP:0100289

Genes and Diseases:

Child Nodes:

........

Abnormal amplitude of pattern reversal visual evoked potentials (HP:0000650)

........

Abnormal timing of pattern reversal visual evoked potentials (HP:0030460)

........

Asymmetrical distribution of pattern reversal visual evoked potentials (HP:0030464)

Sister Nodes:

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

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:0100289	HP:0100289	Abnormality of pattern reversal visual evoked potentials	0	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1		214
HP:0100289	HP:0100289	Abnormality of pattern reversal visual evoked potentials	0	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy		214
HP:0100289	HP:0030464	Asymmetrical distribution of pattern reversal visual evoked potentials	1	CL E G H
HP:0100289	HP:0030460	Abnormal timing of pattern reversal visual evoked potentials	1	CL E G H
HP:0100289	HP:0000650	Abnormal amplitude of pattern reversal visual evoked potentials	1	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1	.	214
HP:0100289	HP:0000650	Abnormal amplitude of pattern reversal visual evoked potentials	1	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	.	214

Genes (1) :OPA1

Diseases (2) :OMIM:165500 OMIM:125250

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