Disease: Hepatosplenomegaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly 		0.010 GeneticVariation phenotype BEFREE Here we present a case of VEO-IBD secondary to a mutation in BIRC4 gene, which encodes X-linked inhibitor of apoptosis protein (XIAP), in a 17-month-old boy with severe failure to thrive, intractable diarrhea, and hepatosplenomegaly. 31232887 2019