Disease: Primary hyperoxaluria type 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268165
Disease: Primary hyperoxaluria type 2
Primary hyperoxaluria type 2 		0.800 Biomarker disease BEFREE Primary hyperoxaluria type II (PH2) is a rare monogenic disorder that is characterized by a lack of the enzyme that catalyzes the reduction of hydroxypyruvate to D-glycerate, the reduction of glyoxylate to glycolate and the oxidation of D-glycerate to hydroxypyruvate. 10484776 1999
CUI: C0268165
Disease: Primary hyperoxaluria type 2
Primary hyperoxaluria type 2 		0.800 GermlineCausalMutation disease ORPHANET
CUI: C0268165
Disease: Primary hyperoxaluria type 2
Primary hyperoxaluria type 2 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0268165
Disease: Primary hyperoxaluria type 2
Primary hyperoxaluria type 2 		0.800 Biomarker disease CTD_human
CUI: C0268165
Disease: Primary hyperoxaluria type 2
Primary hyperoxaluria type 2 		0.800 Biomarker disease GENOMICS_ENGLAND