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

..Starting node
..Bilateral perisylvian polymicrogyria (HP:0032407)

Term ID:

32407

Name:

Bilateral perisylvian polymicrogyria

Synonym:

Definition:

A type of perisylvian polymicrogyria that affects both sides of the brain.

Comments:

Reference:

HP:0032407

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:0032407	HP:0032407	Bilateral perisylvian polymicrogyria	0	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040281 - Very frequent	88
HP:0032407	HP:0032407	Bilateral perisylvian polymicrogyria	0	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040281 - Very frequent	11
HP:0032407	HP:0032407	Bilateral perisylvian polymicrogyria	0	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040281 - Very frequent	50
HP:0032407	HP:0032407	Bilateral perisylvian polymicrogyria	0	SRPX2 CL E G H	27286	30668	OMIM:300643	Rolandic epilepsy, mental retardation, and speech dyspraxia		50

Genes (3) :ADGRG1 PI4KA SRPX2

Diseases (2) :ORPHA:98889 OMIM:300643

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