RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
A congenital disorder of glycosylation type II that has_material_basis_in a mutation of COG7 on chromosome 16p12.2. (DO)
Synonyms:
exact_synonym:
CDG IIE; CDG syndrome type IIe; CDG2E; CDGIIE; CDGIIde; COG7 CONGENITAL DISORDER OF GLYCOSYLATION; COG7-CDG; Carbohydrate deficient glycoprotein syndrome type IIe; congenital disorder of glycosylation type 2E
ClinVar Annotator: match by OMIM:608779 ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2E ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation