Disease

congenital disorder of glycosylation type IIo

Name: congenital disorder of glycosylation type IIo
Creator: Alliance of Genome Resources
License: CC BY 4.0
Keywords: disease DOID:0070267 congenital disorder of glycosylation type IIo A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the CCDC115 gene on chromosome 2q21.1. Carbohydrate deficient glycoprotein syndrome type IIo CDGIIo CDG2O CDG syndrome type IIo CCDC115-CDG CDG IIo Congenital disorder of glycosylation type 2o

Definition

A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the CCDC115 gene on chromosome 2q21.1.

Synonyms

Carbohydrate deficient glycoprotein syndrome type IIo
CCDC115-CDG

Cross References

MIM:616828
ORDO:468684

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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