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DOID:0070267 - congenital disorder of glycosylation type IIo
Disease Ontology 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.
Synonyms: CCDC115-CDG, CDG IIo, CDG syndrome type IIo, CDG2O, CDGIIdo, Carbohydrate deficient glycoprotein syndrome type IIo, Congenital disorder of glycosylation type 2o,
Echinobase Genes :
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee