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Collaborative Research
Diseases
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Metabolic disease
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Inborn errors of metabolism
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Congenital disorder of glycosylation
Disorder of multiple glycosylation
rare
Identifiers
MONDO:0017749
Orphanet:309526
Part of
Congenital disorder of glycosylation
Subtypes
All diseases
Rare only
Disease
ID
Subtypes
Genes
Defect in conserved oligomeric Golgi complex
MONDO:0017750
7
DPM3-congenital disorder of glycosylation
MONDO:0013049
1
DPM3
B4GALT1-congenital disorder of glycosylation
MONDO:0011772
B4GALT1
CCDC115-CDG
MONDO:0014789
VMA22
DK1-congenital disorder of glycosylation
MONDO:0012556
DOLK
GNE myopathy
MONDO:0011603
MPDU1-congenital disorder of glycosylation
MONDO:0012211
MPDU1
Reunion island Larsen syndrome
MONDO:0017413
SLC35A1-congenital disorder of glycosylation
MONDO:0011342
SLC35A1
SLC35A2-congenital disorder of glycosylation
MONDO:0010478
SLC35A2
SRD5A3-congenital disorder of glycosylation
MONDO:0012885
SRD5A3
TMEM199-CDG
MONDO:0014790
VMA12
Congenital disorder of glycosylation type 1E
MONDO:0012123
DPM1
Congenital dyserythropoietic anemia type 2
MONDO:0009134
SEC23B
Congenital muscular dystrophy with intellectual disability and severe epilepsy
MONDO:0014023
DPM2
Defect in V-ATPase
MONDO:0017752
Developmental and epileptic encephalopathy, 50
MONDO:0014647
CAD
Immunodeficiency 23
MONDO:0014353
PGM3
Leukocyte adhesion deficiency type II
MONDO:0009953
SLC35C1
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