Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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 cortical gyration (HP:0002536)

Parent Node:
Polymicrogyria (HP:0002126)

..Starting node
..Unilateral polymicrogyria (HP:0006927)

Term ID:

6927

Name:

Unilateral polymicrogyria

Synonym:

Definition:

Excessive number of small gyri (convolutions) on the surface of one side of the brain.

Comments:

Reference:

HP:0006927

Genes and Diseases:

Child Nodes:

Sister Nodes:

Frontal polymicrogyria (HP:0006821)

obsolete Frontoparietal polymicrogyria (HP:0007095)

Perisylvian polymicrogyria (HP:0012650)

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:0006927	HP:0006927	Unilateral polymicrogyria	0	TUBB2B CL E G H	347733	30829	OMIM:610031	Cortical dysplasia, complex, with other brain malformations 7	.	39
HP:0006927	HP:0032406	Unilateral perisylvian polymicrogyria	1	CL E G H

Genes (1) :TUBB2B

Diseases (1) :OMIM:610031

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