Disease

congenital disorder of glycosylation type IIi

Name: congenital disorder of glycosylation type IIi
Creator: Alliance of Genome Resources
License: CC BY 4.0
Keywords: disease DOID:0070261 congenital disorder of glycosylation type IIi A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG5 gene on chromosome 7q22.3. Congenital disorder of glycosylation type 2i CDG2I CDG IIi CDG syndrome type IIi CDGIIi COG5-CDG Carbohydrate deficient glycoprotein syndrome type IIi

Definition

A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG5 gene on chromosome 7q22.3.

Synonyms

Carbohydrate deficient glycoprotein syndrome type IIi
CDG IIi

Cross References

GARD:12348
MIM:613612

Parent Terms

autosomal recessive disease
congenital disorder of glycosylation type II

Child Terms

None

Sources of Associations

RGD
MGI
ZFIN
FB
WB
SGD

Associated Genes

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Associated Alleles

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Associated Models

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