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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease cystic fibrosis
Symptom C0008370|cholestasis
Sentences 3
PubMedID- 26003074 Does the mutation of the serpina1 gene contribute to liver damage and cholestasis in patients with diagnosed cystic fibrosis.
PubMedID- 22798282 cystic fibrosis presenting with neonatal cholestasis simulating biliary atresia in a patient with a novel mutation.
PubMedID- 20369579 The major morphological variants of hepatic lesion, such as giant-cell hepatitis, chronic active hepatitis, congenital cystic fibrosis with extensive intrahepatic cholestasis and a high hepatic inflammatory-necrotic activity have been found to result in the early development of severe hepatic fibrosis and cirrhosis, which is of great prognostic value.

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