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:
Abnormal visual electrophysiology (HP:0030453)

Parent Node:
Abnormality of visual evoked potentials (HP:0000649)

..Starting node
..Abnormality of pattern visual evoked potentials (HP:0030455)

Term ID:

30455

Name:

Abnormality of pattern visual evoked potentials

Synonym:

Definition:

Comments:

Reference:

HP:0030455

Genes and Diseases:

Child Nodes:

........

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

................... HP:0030457 Abnormal amplitude of pattern onset/offset visual evoked potentials
................... HP:0030458 Abnormal timing of pattern onset/offset visual evoked potentials

........

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

................... HP:0000650 Abnormal amplitude of pattern reversal visual evoked potentials
................... HP:0030460 Abnormal timing of pattern reversal visual evoked potentials
................... HP:0030464 Asymmetrical distribution of pattern reversal visual evoked potentials

Sister Nodes:

Abnormal flash visual evoked potentials (HP:0007928)

Undetectable visual evoked potentials (HP:0007965)

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:0030455	HP:0030455	Abnormality of pattern visual evoked potentials	0	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type	HP:0040282 - Frequent	111
HP:0030455	HP:0030455	Abnormality of pattern visual evoked potentials	0	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	HP:0040283 - Occasional	4
HP:0030455	HP:0030455	Abnormality of pattern visual evoked potentials	0	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1		214
HP:0030455	HP:0030455	Abnormality of pattern 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:0030455	HP:0030455	Abnormality of pattern visual evoked potentials	0	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11	HP:0040282 - Frequent	287
HP:0030455	HP:0030456	Abnormality of pattern onset/offset visual evoked potentials	1	CL E G H
HP:0030455	HP:0100289	Abnormality of pattern reversal visual evoked potentials	1	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1		214
HP:0030455	HP:0100289	Abnormality 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
HP:0030455	HP:0030460	Abnormal timing of pattern reversal visual evoked potentials	2	CL E G H
HP:0030455	HP:0030458	Abnormal timing of pattern onset/offset visual evoked potentials	2	CL E G H
HP:0030455	HP:0030457	Abnormal amplitude of pattern onset/offset visual evoked potentials	2	CL E G H
HP:0030455	HP:0030464	Asymmetrical distribution of pattern reversal visual evoked potentials	2	CL E G H
HP:0030455	HP:0000650	Abnormal amplitude of pattern reversal visual evoked potentials	2	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1	.	214
HP:0030455	HP:0000650	Abnormal amplitude of pattern reversal visual evoked potentials	2	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	.	214

Genes (4) :CLN8 CWC27 OPA1 SPG11

Diseases (5) :ORPHA:1947 ORPHA:166035 OMIM:165500 OMIM:125250 ORPHA:2822

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

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