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Metadata
ID DOID:0070263
Name congenital disorder of glycosylation type IIk
Definition A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of TMEM165 on chromosome 4q12.
https://www.ncbi.nlm.nih.gov/pubmed/22683087
Xrefs

GARD:12413

OMIM:614727

ORDO:314667

Synonyms

Carbohydrate deficient glycoprotein syndrome type IIk [EXACT]

CDG IIk [EXACT]

CDG syndrome type IIk [EXACT]

CDG2K [EXACT]

CDGIIdk [EXACT]

Congenital disorder of glycosylation type 2k [EXACT]

TMEM165-CDG [EXACT]

Parent Relationships

is_a autosomal recessive disease

is_a congenital disorder of glycosylation type II

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