Phenylketonuria

Disease Term Disease ID Gene Symbol Classification References Source
CLASSIC PHENYLKETONURIA
MONDO:0019259
PAH Unknown
20301677
GenCC
CLASSICAL PHENYLKETONURIA
C0751434
PAH Unknown — Disgenet
MILD PHENYLKETONURIA
MONDO:0019258
PAH Unknown
20301677
GWAS catalog
VARIANT PKU
C5680203
PAH Unknown — Disgenet