Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Summary Literature (0)
DOID:0060857 - septooptic dysplasia

Disease Ontology 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.

Synonyms: De Morsier syndrome, septo-optic dysplasia, SOD

Xenbase Genes : hesx1, sox2, sox3, otx2, arnt2, fgfr1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008428 - septooptic dysplasia

MIM:
MIM:182230 - SEPTOOPTIC DYSPLASIA

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal genetic disease (is_a), syndrome (is_a)