Congenital hyperammonemia

Disease Term Disease ID Gene Symbol Classification References Source
CONGENITAL HEART DISEASE
C0152021MONDO:0005453
CRELD1 Unknown
12632326 15857420 18076106 21080147 21413875 22740159 24697899 24927998 25328912 28798025 29054759 33773999 34328347 36011280
ClinGen ClinVar Disgenet
CONGENITAL HEMIHYPERTROPHY
C0332890
KIF1B Unknown — Disgenet