| Metadata | |
|---|---|
| ID | DOID:0060857 |
| Name | septooptic dysplasia |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/8696006, https://www.ncbi.nlm.nih.gov/pubmed/9620767 |
| Xrefs |
SNOMEDCT_US_2023_03_01:204073006 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
De Morsier syndrome [EXACT] septo-optic dysplasia [EXACT] SOD [EXACT] |
| Parent Relationships |
is_a syndrome |