Hyperphenylalaninemia

Disease Term Disease ID Gene Symbol Classification References Source
BH4-DEFICIENT HYPERPHENYLALANINEMIA A
MONDO:0009863
PTS Unknown
8178819 10220141 9450907
ClinGen GWAS catalog
SPR Unknown
16917893 21431957 22522443 24588500
Disgenet
BH4-RESPONSIVE HYPERPHENYLALANINEMIA/PHENYLKETONURIA
C5679945
PAH Unknown — Disgenet
MILD HYPERPHENYLALANINEMIA
MONDO:0019335
PAH Causal
20301677
Disgenet