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Disease Ontology Browser
septooptic dysplasia (DOID:0060857)
Synonyms: De Morsier syndrome; septo-optic dysplasia; SOD
Alt IDs: OMIM:182230, ICD10CM:Q04.8, MESH:D025962, ORDO:3157, UMLS_CUI:C0338503
Definition: An autosomal genetic disease 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.

Disease References using Mouse Models (3)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/18/2017
MGI 6.08
The Jackson Laboratory