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Disease association ontology term - MONDO:0005500 - congenital disorder of glycosylation type I

Term summary

ID
MONDO:0005500
Name
congenital disorder of glycosylation type I
Ontology or CV name
Disease association
Definition
A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor.

Parents

Annotation

Disease association

MONDO:0005500 - congenital disorder of glycosylation type I

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Genes:

MONDO:0012052 - ALG1-congenital disorder of glycosylation

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Genes:

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:0012123 - congenital disorder of glycosylation type 1E

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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: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: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:0009890 - Gillessen-Kaesbach-Nishimura syndrome

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MONDO:0011257 - MPI-congenital disorder of glycosylation

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

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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:0012885 - SRD5A3-congenital disorder of glycosylation

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MONDO:0014270 - STT3A-congenital disorder of glycosylation

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Genes:

MONDO:0014271 - STT3B-congenital disorder of glycosylation

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Genes: