septooptic dysplasia
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. [ http://purl.obolibrary.org/obo/ECO_0007645 ]
Term info
septooptic dysplasia
- De Morsier syndrome
- SOD
- septo-optic dysplasia
NCIthesaurus
disease_ontology
DOID:0060857