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 cortical gyration (HP:0002536)

Parent Node:
Lissencephaly (HP:0001339)

..Starting node
..Focal lissencephaly (HP:0007187)

Term ID:

7187

Name:

Focal lissencephaly

Synonym:

Definition:

A congenital absence of the convolutions of the cerebral cortex and a poorly formed sylvian fissure that affects a particular part of the cortex.

Comments:

Reference:

HP:0007187

Genes and Diseases:

Child Nodes:

Sister Nodes:

4-layered lissencephaly (HP:0006818)

Agyria (HP:0031882)

Microlissencephaly (HP:0045028)

Pachygyria (HP:0001302)

Type II lissencephaly (HP:0007260)

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:0007187	HP:0007187	Focal lissencephaly	0	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type	.	3

Genes (1) :GPX4

Diseases (1) :OMIM:250220

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