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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease imperforate anus
Comorbidity C0014850|esophageal atresia
Sentences 4
PubMedID- 23014387 Anopthalmia/microphthlamia-esophageal atresia association with additional features imperforate anus, choanal atresia, cyanotic heart disease.
PubMedID- 24210691 Vacterl (vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, cardiac defects, renal and limb anomalies) association: disease spectrum in 25 patients ascertained for their upper limb involvement.
PubMedID- 23807150 Systemic evaluation revealed multiple congenital anomalies: benign external hydrocephalus, esophageal atresia with imperforate anus, atrial septal defect (asd), ventricular septal defect, patent ductus arteriosis (pda), and right mild hydronephrosis.
PubMedID- 22324023 Extra-cardiac anomalies were left lung hypoplasia in 1 patient, esophageal atresia with anal atresia in 1 patient, anal atresia in 1 patient, hypospadia with hirschsprung's disease in 1 patient, and catch22 syndrome in 2 patients.

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