Disease

congenital disorder of glycosylation type IIf

Name: congenital disorder of glycosylation type IIf
Creator: Alliance of Genome Resources
License: CC BY 4.0
Keywords: disease DOID:0070258 congenital disorder of glycosylation type IIf A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35A1 gene on chromosome 6q15. CDG IIf Carbohydrate deficient glycoprotein syndrome type IIf CDG2F CMP-sialic acid transporter deficiency SLC35A1-CDG CDGIIf

Definition

A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35A1 gene on chromosome 6q15.

Synonyms

Carbohydrate deficient glycoprotein syndrome type IIf
CDG IIf

Cross References

GARD:12409
MESH:C567040

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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