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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, SOD, septo-optic dysplasia

Xenbase Genes : hesx1, sox2, sox3, otx2, arnt2, prokr2, fgfr1

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

OMIM:
OMIM:182230 - SEPTOOPTIC DYSPLASIA

Other Model Organisms: AGR, 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)