Septo-Optic Dysplasia
Disease ID: disease_node_10954
Connections displayed (default: 10).
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| Dbxref | GARD:7627, MESH:D025962, MIM:182230, NCI:C85063, ORDO:3157, SNOMEDCT_US_2023_03_01:204073006, UMLS_CUI:C0338503 |
|---|---|
| Subclassof | DOID_225, DOID_0050739 |
| Data Source | DOID, MESH |
| Synonyms | De Morsier syndrome, SOD, septo-optic dysplasia |
| Mesh Id | D025962 |
| Mesh Label | Septo-Optic Dysplasia |
| Mesh Subclassof | D000080344, D061085, D000093922 |
| Doid Label | septooptic dysplasia |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000934 |
| Disease Node Id | disease_node_10954 |
| Doid Id | DOID_0060857 |
| Label | Septo-Optic Dysplasia |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Genetic Disease(ID:disease_node_15586) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)