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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease congenital glaucoma
Comorbidity C0456909|blindness
Sentences 2
PubMedID- 25329831 Mutations in cyp1b1 are also associated with childhood blindness due to primary congenital glaucoma (pcg).
PubMedID- 23827343 As this syndrome includes cardiac malformations and can lead to blindness due to congenital glaucoma, oral and maxillofacial surgeons should be aware of the somatic anomalies potentially associated with radiculomegaly.

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