Disease

congenital disorder of glycosylation type IIp

Name: congenital disorder of glycosylation type IIp
Creator: Alliance of Genome Resources
License: CC BY 4.0
Keywords: disease DOID:0070268 congenital disorder of glycosylation type IIp A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the TMEM199 gene on chromosome 17q11.2. CDGIIp CDG syndrome type IIp Carbohydrate deficient glycoprotein syndrome type IIp CDG IIp TMEM199-CDG Congenital disorder of glycosylation type 2p CDG2P

Definition

A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the TMEM199 gene on chromosome 17q11.2.

Synonyms

Carbohydrate deficient glycoprotein syndrome type IIp
CDG IIp

Cross References

MIM:616829
ORDO:466703

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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