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DOID:0060902 - Norman-Roberts syndrome
Disease Ontology Definition:A lissencephaly that has_material_basis_in homozygous mutation in the gene encoding reelin (RELN) on chromosome 7q22.
Synonyms: lissencephaly 2, lissencephaly syndrome, Norman-Roberts type,
Echinobase Genes :
MIM:257320 - lissencephaly 2; lis2 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
lissencephaly (is_a)