Congenital Disorder of Glycosylation, Type Iio (CDG2O)

Alias:

Ccdc115-Cdg

Cdg2o

Congenital Disorder of Glycosylation Type Iio

Cdg Iio

Carbohydrate Deficient Glycoprotein Syndrome Type Iio

Congenital Disorder of Glycosylation Type 2o

Cdg Syndrome Type Iio

Cdg-Iio

Cdgiio

Glycosylation, Congenital Disorder of, Type Iio

Congenital Disorder of Glycosylation 2o

Cdgiido

Favorite

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Congenital Disorder of Glycosylation, Type Iio, also known as ccdc115-cdg, is related to congenital disorder of glycosylation, type iip and cholesterol ester storage disease. An important gene associated with Congenital Disorder of Glycosylation, Type Iio is CCDC115 (Coiled-Coil Domain Containing 115), and among its related pathways/superpathways are Infectious disease and Metabolism of proteins. Affiliated tissues include liver and bone, and related phenotypes are ptosis and abnormal facial shape

Related ID：

MALACARDS：CNG497

OMIM：616828

MESH：D018981