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Metadata
DOID DOID:0060857
Name septooptic dysplasia
Definition An autosomal genetic disease 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

GARD:7627

MESH:D025962

NCI:C85063

OMIM:182230

ORDO:3157

SNOMEDCT_US_2018_03_01:7611002

UMLS_CUI:C0338503

Subsets

NCIthesaurus

Synonyms

De Morsier syndrome [EXACT]

septo-optic dysplasia [EXACT]

SOD [EXACT]

Relationships

is_a autosomal genetic disease

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