Carbohydrate-deficient glycoprotein syndrome

Carbohydrate-deficient glycoprotein syndrome (disorder)

active

Code	`238049009`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20020131

Synonyms

CDG - Carbohydrate-deficient glycoprotein syndrome
Carbohydrate deficiency glycoprotein syndrome
Carbohydrate deficient glycoprotein syndrome
Congenital disorder of glycosylation

Parents (1)

238045003Disorder of glycoprotein metabolism disorder

Children (14)

277893002Carbohydrate-deficient glycoprotein syndrome type I disorder
277894008Carbohydrate-deficient glycoprotein syndrome type II disorder
277895009Carbohydrate-deficient glycoprotein syndrome type III disorder
1172627007Early-onset epilepsy, intellectual disability, brain anomalies syndrome disorder
770755007Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome disorder
61367005Jarcho-Levin syndrome disorder
1234819007Limb girdle muscular dystrophy due to POMK deficiency disorder
785303004Multiple congenital anomalies, hypotonia, seizures syndrome disorder
773643006Multiple congenital anomalies, hypotonia, seizures syndrome type 2 disorder
1187623009PGM3-related congenital disorder of glycosylation disorder
1172703004POGLUT1-related limb girdle muscular dystrophy R21 disorder
723624008SLC35A1 congenital disorder of glycosylation disorder
1187250005Seizures, scoliosis, macrocephaly syndrome disorder
773418007XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation disorder