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Metadata
ID DOID:0070267
Name congenital disorder of glycosylation type IIo
Definition A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the CCDC115 gene on chromosome 2q21.1.
https://www.ncbi.nlm.nih.gov/pubmed/26833332
Xrefs

MIM:616828

ORDO:468684

Subsets

DO_rare_slim

Synonyms

Carbohydrate deficient glycoprotein syndrome type IIo [EXACT]

CCDC115-CDG [EXACT]

CDG IIo [EXACT]

CDG syndrome type IIo [EXACT]

CDG2O [EXACT]

CDGIIo [EXACT]

Congenital disorder of glycosylation type 2o [EXACT]

Parent Relationships

is_a autosomal recessive disease

is_a congenital disorder of glycosylation type II

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