FNS-Harmony

Last uploaded: November 2, 2023
Preferred Name

lissencephaly 1
Synonyms
Definitions

A lissencephaly characterized by an abnormally thick cortex, reduced or abnormal lamination, and diffuse neuronal heterotopia that has_material_basis_in mutation heterozygous in PAFAH1B1 on chromosome 17p13.3.

ID

http://purl.obolibrary.org/obo/DOID_0112237

definition

A lissencephaly characterized by an abnormally thick cortex, reduced or abnormal lamination, and diffuse neuronal heterotopia that has_material_basis_in mutation heterozygous in PAFAH1B1 on chromosome 17p13.3.

imported from

http://purl.obolibrary.org/obo/doid.owl

label

lissencephaly 1

prefixIRI

DOID:0112237

prefLabel

lissencephaly 1

subClassOf

http://purl.obolibrary.org/obo/DOID_0050453

http://purl.obolibrary.org/obo/DOID_0050736

Delete Subject Author Type Created
No notes to display