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 an autosomal recessive mutation of the MGAT2 gene on chromosome 14q21.3. (DO)
Synonyms:
exact_synonym:
Alkuraya syndrome; CDG IIA; CDG2A; CDGIIA; CDGS2; Carbohydrate-deficient glycoprotein syndrome, type 2; carbohydrate-deficient glycoprotein syndrome, type II; congenital disorder of glycosylation type 2A; mental retardation, growth retardation, prominent columella, and open mouth
ClinVar Annotator: match by term: Alkuraya syndrome | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIa CTD Direct Evidence: marker/mechanism OMIM:212066