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Metadata
ID DOID:0070269
Name congenital disorder of glycosylation type IIq
Definition A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of COG2 on chromosome 1q42.2.
https://www.ncbi.nlm.nih.gov/pubmed/24784932
Xrefs

OMIM:617395

ORDO:435934

Synonyms

CDG IIq [EXACT]

CDG2Q [EXACT]

CDGIIdq [EXACT]

COG2-CDG [EXACT]

COG2-related congenital disorder of glycosylation [EXACT]

Parent Relationships

is_a congenital disorder of glycosylation type II

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