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Human Disease

septooptic dysplasia

Term ID
DOID:0060857
Synonyms
  • De Morsier syndrome
  • septo-optic dysplasia
  • SOD
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. (2)
References
Ontology
Human Disease   ( DOID:0060857 )
Relationships
is a type of
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Genes Involved
Zebrafish Models
Citations