Search Ontology:
Human Disease
septooptic dysplasia
- Term ID
- DOID:0060857
- Synonyms
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- 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
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- GARD:7627
- MESH:D025962
- MIM:182230
- NCI:C85063
- ORDO:3157
- SNOMEDCT_US_2023_03_01:204073006
- UMLS_CUI:C0338503
- Ontology
- Human Disease ( DOID:0060857 )
- is a type of
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Genes Involved
Zebrafish Models