congenital disorder of glycosylation type IIo

Term ID

DOID:0070267

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. https://www.ncbi.nlm.nih.gov/pubmed/26833332

References

• MIM:616828
• ORDO:468684

Ontology

Human Disease   ( DOID:0070267 )