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Disease Ontology Browser
lissencephaly 1 (DOID:0112237)
Alliance: disease page
Synonyms: LIS1; PAFAH1B1-related lissencephaly
Alt IDs: OMIM:607432, ORDO:95232
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 the PAFAH1B1 gene on chromosome 17p13.3.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory