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 light-adapted electroretinogram (HP:0008275)

Parent Node:
Abnormal light-adapted flicker electroretinogram (HP:0030473)

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

Term ID:

30479

Name:

Abnormal amplitude of light-adapted flicker electroretinogram

Synonym:

Definition:

Comments:

Reference:

HP:0030479

Genes and Diseases:

Child Nodes:

Sister Nodes:

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

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:0030479	HP:0030479	Abnormal amplitude of light-adapted flicker electroretinogram	0	CACNA1F CL E G H	778	1393	OMIM:300071	Night blindness, congenital stationary, type 2A	58

Genes (1) :CACNA1F

Diseases (1) :OMIM:300071

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