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Metadata
ID DOID:0070261
Name congenital disorder of glycosylation type IIi
Definition A congenital disorder of glycosylation type II that has_material_basis_in a mutation of COG5 on chromosome 7q22.3.
https://www.ncbi.nlm.nih.gov/pubmed/19690088
Xrefs

GARD:12348

OMIM:613612

ORDO:263487

Synonyms

Carbohydrate deficient glycoprotein syndrome type IIi [EXACT]

CDG IIi [EXACT]

CDG syndrome type IIi [EXACT]

CDG2I [EXACT]

CDGIIdi [EXACT]

COG5-CDG [EXACT]

Congenital disorder of glycosylation type 2i [EXACT]

Parent Relationships

is_a congenital disorder of glycosylation type II

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