septooptic dysplasia (DOID:0060857)
Alliance: disease page
Synonyms: De Morsier syndrome; septo-optic dysplasia; SOD
Alt IDs: OMIM:182230, MESH:D025962, NCI:C85063, ORDO:3157, UMLS_CUI:C0338503
Definition: A syndrome characterized by the classical triad of optic nerve hypoplasia, pituitary gland hypoplasia and midline brain defects that has_material_basis_in mutation in the HESX1 gene on chromosome 3p14.