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 full-field electroretinogram (HP:0030466)

Parent Node:
Abnormal light-adapted electroretinogram (HP:0008275)

..Starting node
..Abnormal light-adapted flicker electroretinogram (HP:0030473)

Term ID:

30473

Name:

Abnormal light-adapted flicker electroretinogram

Synonym:

Abnormal light adapted flicker electroretinogram; Abnormal light-adapted 30Hz flicker electroretinogram; Abnormal light-adapted 30Hz flicker ERG; Abnormal light-adapted flicker ERG

Definition:

Comments:

Reference:

HP:0030473

Genes and Diseases:

Child Nodes:

........

Abnormal amplitude of light-adapted flicker electroretinogram (HP:0030479)

........

Abnormal timing of light-adapted flicker electroretinogram (HP:0030480)

Sister Nodes:

Abnormal light-adapted single flash electroretinogram (HP:0030472)

Undetectable light-adapted electroretinogram (HP:0030465)

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:0030473	HP:0030473	Abnormal light-adapted flicker electroretinogram	0	CACNA1F CL E G H	778	1393	OMIM:300071	Night blindness, congenital stationary, type 2A	58
HP:0030473	HP:0030473	Abnormal light-adapted flicker electroretinogram	0	KIF3B CL E G H	9371	6320	OMIM:618955	RETINITIS PIGMENTOSA 89; RP89
HP:0030473	HP:0030473	Abnormal light-adapted flicker electroretinogram	0	PDE6H CL E G H	5149	8790	OMIM:610024	Retinal cone dystrophy 3A	14
HP:0030473	HP:0030480	Abnormal timing of light-adapted flicker electroretinogram	1	CL E G H
HP:0030473	HP:0030479	Abnormal amplitude of light-adapted flicker electroretinogram	1	CACNA1F CL E G H	778	1393	OMIM:300071	Night blindness, congenital stationary, type 2A	58

Genes (3) :CACNA1F KIF3B PDE6H

Diseases (3) :OMIM:300071 OMIM:618955 OMIM:610024

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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