PPOX, protoporphyrinogen oxidase, 5498

N. diseases: 53; N. variants: 28
Disease: Hydroxymethylbilane Synthase Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2936779
Disease: Hydroxymethylbilane Synthase Deficiency
Hydroxymethylbilane Synthase Deficiency 		0.010 Biomarker disease BEFREE Thus, in the family presented, porphobilinogen deaminase deficiency is likely to be a phenomenon secondary to the genetic defect of protoporphyrinogen oxidase. 11800145 2002