|  Help  |  About  |  Contact Us

DO Term : lissencephaly 1 [DOID:0112237] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A lissencephaly characterized by an abnormally thick cortex, reduced or abnormal lamination, and diffuse neuronal heterotopia that has_material_basis_in mutation heterozygous in the PAFAH1B1 gene on chromosome 17p13.3.
  • synonyms:
  • OMIM:607432,
  • 607432,
  • PAFAH1B1-related lissencephaly,
  • LIS1,
  • ORDO:95232
Quick Links:
 
Quick Links:
 

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents