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
..Dysgyria (HP:0032398)

Term ID:

32398

Name:

Dysgyria

Synonym:

Definition:

An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation.

Comments:

Reference:

HP:0032398

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:0032398	HP:0032398	Dysgyria	0	LAMB1 CL E G H	3912	6486	ORPHA:352682	Cobblestone lissencephaly without muscular or ocular involvement	HP:0040282 - Frequent	71
HP:0032398	HP:0032398	Dysgyria	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation	HP:0040282 - Frequent	231
HP:0032398	HP:0032398	Dysgyria	0	TUBA1A CL E G H	7846	20766	ORPHA:467166	Tubulinopathy-associated dysgyria		106
HP:0032398	HP:0032398	Dysgyria	0	TUBB2B CL E G H	347733	30829	ORPHA:467166	Tubulinopathy-associated dysgyria		39
HP:0032398	HP:0032398	Dysgyria	0	TUBB3 CL E G H	10381	20772	ORPHA:467166	Tubulinopathy-associated dysgyria		64
HP:0032398	HP:0032400	Dysgyria with thickened cortex	1	CL E G H
HP:0032398	HP:0032399	Dysgyria with normal cortical thickness	1	CL E G H

Genes (5) :LAMB1 PAFAH1B1 TUBA1A TUBB2B TUBB3

Diseases (3) :ORPHA:352682 ORPHA:95232 ORPHA:467166

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