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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:0008428 - septooptic dysplasia |
| 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)