Congenital Disorder of Glycosylation, Type Iib (CDG2B)

Congenital Disorder of Glycosylation, Type Iib(来自ICD-11)
别称:
Congenital Disorder of Glycosylation Type Iib
Glucosidase I Deficiency
Cdgiib
Cdg2b
Cdg Iib
Carbohydrate Deficient Glycoprotein Syndrome Type Iib
Glycosylation, Congenital Disorder of, Type Iib
Type Iib Congenital Disorder of Glycosylation
Congenital Disorder of Glycosylation Type 2b
Mogs-Congenital Disorder of Glycosylation
Glucosidase 1 Deficiency
Cdg Syndrome Type Iib
Mogs-Cdg
Cdg-Iib
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Congenital Disorder of Glycosylation, Type Iib, also known as congenital disorder of glycosylation type iib, is related to developmental and epileptic encephalopathy 36 and congenital disorder of glycosylation, type in, and has symptoms including seizures An important gene associated with Congenital Disorder of Glycosylation, Type Iib is MOGS (Mannosyl-Oligosaccharide Glucosidase), and among its related pathways/superpathways are Infectious disease and Metabolism of proteins. Affiliated tissues include liver and testis, and related phenotypes are seizure and abnormal facial shape
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基础信息

遗传方式
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参考文献
MALACARDS
AR
Newborn
<1/1000000
17
67
9

疾病表征

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基因 & 突变

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靶点药物

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疾病模型

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MGI
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