Carbohydrate deficient glycoprotein syndrome

Disease Term Disease ID Gene Symbol Classification References Source
CARBOHYDRATE DEFICIENT GLYCOPROTEIN SYNDROME TYPE 2 DUE TO DEFICIENCY OF MANNOSIDASE ALPHA CLASS 1B MEMBER 1
C4518783
MAN1B1 Unknown — Disgenet
CARBOHYDRATE DEFICIENT GLYCOPROTEIN SYNDROME TYPE 2K
C3553571
TMEM165 Unknown — Disgenet