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coloboma of optic disc

Disease Summary
Associated Targets (4)
Tbio

4


GARD Rare
Mondo Description Coloboma of optic disc is a rare, genetic, developmental defect of the eye characterized by a unilateral or bilateral, sharply demarcated, bowl-shaped, glistening white excavation on the optic disc (typically decentered inferiorly) which usually manifests with varying degrees of reduced visual acuity. It can occur isolated or may associate other ocular (e.g. retinal detachment, retinoschisis-like separation) or systemic anomalies (e.g. renal).
Mondo Term and Equivalent IDs
MONDO:0020358:  coloboma of optic disc
COHD:437292: 
GARD:0001438: 
Orphanet:98947: