Disease: Hypocholesterolemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia 		0.130 GeneticVariation disease BEFREE Anderson disease (ANDD) or chylomicron retention disease (CMRD) is a rare, hereditary lipid malabsorption syndrome associated with mutations in the SAR1B gene that is characterized by failure to thrive and hypocholesterolemia. 25559265 2015
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia 		0.130 GeneticVariation disease BEFREE Anderson disease is a rare inherited lipid malabsorption syndrome associated with hypocholesterolemia and linked to SAR1B mutations. 22441101 2012
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia 		0.130 GeneticVariation disease BEFREE Anderson disease (and/or chylomicron retention disease-CMRD) is a rare, autosomic recessive disorder characterized by chronic diarrhea, failure to thrive, and hypocholesterolemia in childhood. 17945526 2008
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia 		0.130 Biomarker disease HPO