lissencephaly 3 Disease Ontology Browser

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Disease Ontology Browser

lissencephaly 3 (DOID:0112232)
Alliance: disease page
Synonyms: LIS3
Alt IDs: OMIM:611603, MESH:C566908, ORDO:171680
Definition: A lissencephaly characterized by brain malformations, microcephaly, developmental delay and epilepsy that has_material_basis_in heterozygous mutation in the TUBA1A gene on chromosome 12q13.12.

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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