OBO ID: DOID:0060857
Term Name: septooptic dysplasia Search Ontology:
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)
OTHER septooptic dysplasia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
HESX1 Growth hormone deficiency with pituitary anomalies 182230
Pituitary hormone deficiency, combined, 5 182230
Septooptic dysplasia 182230
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None