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 flash visual evoked potentials (HP:0007928)

Parent Node:
Abnormal amplitude of flash visual evoked potentials (HP:0030462)

..Starting node
..Enlarged flash visual evoked potentials (HP:0008045)

Term ID:

8045

Name:

Enlarged flash visual evoked potentials

Synonym:

High flash visual evoked potentials

Definition:

Comments:

Reference:

HP:0008045

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0008045	HP:0008045	Enlarged flash visual evoked potentials	0	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3	.	180

Genes (1) :POMGNT1

Diseases (1) :OMIM:253280

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