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isolated optic nerve hypoplasia

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Uniprot Description A congenital anomaly in which the optic disk appears abnormally small. It may be an isolated finding or part of a spectrum of anatomic and functional abnormalities that includes partial or complete agenesis of the septum pellucidum, other midline brain defects, cerebral anomalies, pituitary dysfunction, and structural abnormalities of the pituitary.
Mondo Term and Equivalent IDs
MONDO:0008136:  isolated optic nerve hypoplasia
DOID:0111531: 
GARD:0008419: 
Orphanet:137902: 
SCTID:724999003: 
UMLS:C1833797: 
UMLS:C4510723: