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Metadata
ID DOID:0070257
Name congenital disorder of glycosylation type IIe
Definition A congenital disorder of glycosylation type II that has_material_basis_in a mutation of COG7 on chromosome 16p12.2.
https://www.ncbi.nlm.nih.gov/pubmed/15107842
Xrefs

GARD:9842

MESH:C535754

OMIM:608779

ORDO:79333

SNOMEDCT_US_2020_09_01:717773005

UMLS_CUI:C2931010

Synonyms

Carbohydrate deficient glycoprotein syndrome type IIe [EXACT]

CDG IIe [EXACT]

CDG syndrome type IIe [EXACT]

CDG2E [EXACT]

CDGIIde [EXACT]

COG7-CDG [EXACT]

Parent Relationships

is_a autosomal recessive disease

is_a congenital disorder of glycosylation type II

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