Term Name: | congenital disorder of glycosylation type IIo |
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Synonyms: | Carbohydrate deficient glycoprotein syndrome type IIo, CCDC115-CDG, CDG IIo, CDG syndrome type IIo, CDG2O, CDGIIo, Congenital disorder of glycosylation type 2o |
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. |
Ontology: | Human Disease [DOID:0070267] ( DOID:0070267 ) |