Search Ontology:
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 heterozygous, homozygous, or compound heterozygous mutation in the homeobox gene HESX1 on chromosome 3p14. (2)
References
(all 7)
Ontology
Human Disease   ( DOID:0060857 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.