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
..4-layered lissencephaly (HP:0006818)

Term ID:

6818

Name:

4-layered lissencephaly

Synonym:

Classic lissencephaly; Four-layered lissencephaly; Lissencephaly, type I; Type 1 lissencephaly; Type I lissencephaly

Definition:

A form of lissencephaly in which the cortex is thickened and has four more or less disorganized layers rather than six normal layers resulting from incomplete neuronal migration during brain development. At neuropathological examination, a 4-layered cortex consists of an upper molecular layer, a second thin cellular layer containing pyramidal neurons usually observed in layer V, a third pale poorly cellular layer and a fourth thick deep layer made up of neurons which had failed to migrate. Radiologocally would manifest as agyria or pachygyria with cortical thickness greater than 10 mm.

Comments:

Reference:

HP:0006818

Genes and Diseases:

Child Nodes:

Sister Nodes:

Agyria (HP:0031882)

Focal lissencephaly (HP:0007187)

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:0006818	HP:0006818	4-layered lissencephaly	0	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040281 - Very frequent	10
HP:0006818	HP:0006818	4-layered lissencephaly	0	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040281 - Very frequent	96
HP:0006818	HP:0006818	4-layered lissencephaly	0	RELN CL E G H	5649	9957	OMIM:257320	Lissencephaly 2		334
HP:0006818	HP:0006818	4-layered lissencephaly	0	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040281 - Very frequent	334

Genes (3) :KATNB1 NDE1 RELN

Diseases (2) :ORPHA:89844 OMIM:257320

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

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