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coloboma of optic nerve

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Uniprot Description An ocular defect that is due to malclosure of the fetal intraocular fissure affecting the optic nerve head. In some affected individuals, it appears as enlargement of the physiologic cup with severely affected eyes showing huge cavities at the site of the disk.
Mondo Term and Equivalent IDs
MONDO:0007354:  coloboma of optic nerve
GARD:0008502: 
ICD9:377.23: 
MESH:C535970: 
SCTID:17541006: