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

..Starting node
..Type 1 schizencephaly (HP:0025702)

Term ID:

25702

Name:

Type 1 schizencephaly

Synonym:

Trans-mantle schizencephaly

Definition:

A type of Schizencephaly in which there is a trans-mantle column of abnormal grey matter but no evidence of a CSF-containing cleft on MR imaging.

Comments:

Reference:

HP:0025702

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0025702	HP:0025702	Type 1 schizencephaly	0	CL E G H

Genes (0) :

Diseases (0) :

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