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colobomatous optic disc-macular atrophy-chorioretinopathy syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description An ocular disorder characterized by optic nerve dysplasia, optic disk anomalies, chorioretinal dystrophy and macular atrophy. Some patients have microphthalmia.
Mondo Term and Equivalent IDs
MONDO:0008927:  colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
DOID:0080635: 
MESH:C565876: 
UMLS:CN237578: