Disease: Bifunctional peroxisomal enzyme deficiency ×
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0342870
Disease: Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases Pathologic Function 2 47 0.900 None 1.000 34 47 1989 2017