Disease: Bifunctional peroxisomal enzyme deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342870
Disease: Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency 		0.300 GermlineCausalMutation phenotype ORPHANET Amino acid and nucleotide sequences of human peroxisomal enoyl-CoA hydratase: 3-hydroxyacyl-CoA dehydrogenase cDNA. 9501266 1998