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loading...| Preferred Name |
septooptic dysplasia |
| Synonyms |
De Morsier syndrome |
| Definitions |
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. |
| ID |
http://purl.obolibrary.org/obo/DOID_0060857 |
| database_cross_reference |
GARD:7627 OMIM:182230 UMLS_CUI:C0338503 MESH:D025962 NCI:C85063 SNOMEDCT_US_2022_09_01:204073006 ORDO:3157 |
| 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. |
| has exact synonym |
De Morsier syndrome septo-optic dysplasia SOD |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0060857 |
| in_subset | |
| label |
septooptic dysplasia |
| notation |
DOID:0060857 |
| prefLabel |
septooptic dysplasia |
| subClassOf |
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