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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease cornelia de lange syndrome
Comorbidity C0003466|imperforate anus
Sentences 2
PubMedID- 21165303 These included a case of cdls with imperforate anus and a case of cdls with entropion, which was reported by a pediatrician and ophthalmologist respectively (6, 7).
PubMedID- 23304577 cornelia de lange syndrome: a newborn with imperforate anus and a nipbl mutation.

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