Terminology Service for NFDI4Health

septooptic dysplasia

Go to external page http://purl.obolibrary.org/obo/DOID_0060857


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. [ http://purl.obolibrary.org/obo/ECO_0007645 ]

Term info

Label

septooptic dysplasia

Synonyms
  • De Morsier syndrome
  • SOD
  • septo-optic dysplasia
database cross reference
Subsets

NCIthesaurus

has obo namespace

disease_ontology

id

DOID:0060857