Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022353
Disease: Neonatal Jaundice
Neonatal Jaundice
0.010 Biomarker phenotype BEFREE Niemann-Pick type C1 disease (NPC1) is an autosomal recessive lysosomal storage disorder characterized by neonatal jaundice, hepatosplenomegaly, and progressive neurodegeneration. 19744920 2010