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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease omphalocele
Comorbidity C0152096|trisomy 18
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PubMedID- 26138114 Typical aa profiles for trisomy 18 (23% of omphalocele cases) and beckwith-wiedemann syndrome (15%) validated registry aa descriptors, chromosome disorders surprisingly accounting for 24% of known conditions with gastroschisis followed by expected amniotic band (adam) complex (23%) and amyoplasia/arthrogryposis (16%).

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