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Disease association ontology term - MONDO:0015286 - congenital disorder of glycosylation

Term summary

ID
MONDO:0015286
Name
congenital disorder of glycosylation
Ontology or CV name
Disease association
Definition
Congenital disorder of glycosylation (CDG) is a fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). CDG is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation.

Parents

Annotation

Disease association

MONDO:0015286 - congenital disorder of glycosylation

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MONDO:0012282 - Al-Gazali syndrome

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MONDO:0012052 - ALG1-congenital disorder of glycosylation

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MONDO:0013349 - ALG11-congenital disorder of glycosylation

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MONDO:0011783 - ALG12-congenital disorder of glycosylation

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MONDO:0011933 - ALG2-congenital disorder of glycosylation

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MONDO:0010998 - ALG3-congenital disorder of glycosylation

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MONDO:0011291 - ALG6-congenital disorder of glycosylation 1C

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MONDO:0011969 - ALG8-congenital disorder of glycosylation

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MONDO:0012117 - ALG9-congenital disorder of glycosylation

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MONDO:0014248 - autism spectrum disorder - epilepsy - arthrogryposis syndrome

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MONDO:0012248 - autosomal recessive limb-girdle muscular dystrophy type 2K

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MONDO:0013162 - autosomal recessive limb-girdle muscular dystrophy type 2N

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MONDO:0014142 - autosomal recessive limb-girdle muscular dystrophy type 2T

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MONDO:0010221 - CHIME syndrome

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MONDO:0012637 - COG1-congenital disorder of glycosylation

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MONDO:0013281 - COG4-congenital disorder of glycosylation

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MONDO:0013325 - COG5-congenital disorder of glycosylation

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MONDO:0013810 - COG6-congenital disorder of glycosylation

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MONDO:0012635 - COG8-congenital disorder of glycosylation

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MONDO:0012123 - congenital disorder of glycosylation type 1E

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MONDO:0005500 - congenital disorder of glycosylation type I

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MONDO:0014904 - congenital disorder of glycosylation, type IAA

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MONDO:0026729 - congenital disorder of glycosylation, type ICC

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MONDO:0957540 - congenital disorder of glycosylation, type IIaa

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MONDO:0957820 - congenital disorder of glycosylation, type IIbb

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MONDO:0054559 - congenital disorder of glycosylation, type IIq

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MONDO:0859356 - congenital disorder of glycosylation, type IIy

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MONDO:0859357 - congenital disorder of glycosylation, type IIz

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MONDO:0859223 - congenital disorder of glycosylation, type Iw, autosomal dominant

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MONDO:0009134 - congenital dyserythropoietic anemia type 2

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MONDO:0014023 - congenital muscular dystrophy with intellectual disability and severe epilepsy

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MONDO:0014543 - congenital myasthenic syndrome 14

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MONDO:0014542 - congenital myasthenic syndrome 15

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MONDO:0013789 - DDOST-congenital disorder of glycosylation

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MONDO:0010472 - developmental and epileptic encephalopathy, 36

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MONDO:0014647 - developmental and epileptic encephalopathy, 50

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MONDO:0012556 - DK1-congenital disorder of glycosylation

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MONDO:0011964 - DPAGT1-congenital disorder of glycosylation

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MONDO:0013049 - DPM3-congenital disorder of glycosylation

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MONDO:0014139 - Ehlers-Danlos syndrome, spondylodysplastic type, 2

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MONDO:0009890 - Gillessen-Kaesbach-Nishimura syndrome

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MONDO:0012465 - hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency

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MONDO:0009398 - hyperphosphatasia with intellectual disability syndrome 1

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MONDO:0013882 - hyperphosphatasia with intellectual disability syndrome 2

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MONDO:0014318 - hyperphosphatasia with intellectual disability syndrome 4

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MONDO:0014457 - hyperphosphatasia with intellectual disability syndrome 5

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MONDO:0014780 - hyperphosphatasia with intellectual disability syndrome 6

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MONDO:0014353 - immunodeficiency 23

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MONDO:0033572 - intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies

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MONDO:0014832 - intellectual disability, autosomal recessive 53

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MONDO:0009953 - leukocyte adhesion deficiency type II

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MONDO:0011629 - MOGS-congenital disorder of glycosylation

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MONDO:0011257 - MPI-congenital disorder of glycosylation

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MONDO:0013563 - multiple congenital anomalies-hypotonia-seizures syndrome 1

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MONDO:0010466 - multiple congenital anomalies-hypotonia-seizures syndrome 2

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MONDO:0014165 - multiple congenital anomalies-hypotonia-seizures syndrome 3

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MONDO:0009364 - muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

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MONDO:0014140 - muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14

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MONDO:0013154 - muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2

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MONDO:0033556 - muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15

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MONDO:0013159 - muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1

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MONDO:0014141 - muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14

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MONDO:0013160 - muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2

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MONDO:0033619 - myopathy, epilepsy, and progressive cerebral atrophy

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MONDO:0013968 - PGM1-congenital disorder of glycosylation

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MONDO:0008907 - PMM2-congenital disorder of glycosylation

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MONDO:0012783 - RFT1-congenital disorder of glycosylation

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MONDO:0010478 - SLC35A2-congenital disorder of glycosylation

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MONDO:0010075 - spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures

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MONDO:0012885 - SRD5A3-congenital disorder of glycosylation

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MONDO:0014270 - STT3A-congenital disorder of glycosylation

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MONDO:0014271 - STT3B-congenital disorder of glycosylation

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MONDO:0013870 - TMEM165-congenital disorder of glycosylation

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MONDO:0014790 - TMEM199-CDG

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