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Disease Ontology Browser
congenital disorder of glycosylation type IIa (DOID:0070253)
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Synonyms: Alkuraya syndrome; carbohydrate-deficient glycoprotein syndrome, type II; CDG2A; CDG IIa; CDGIIa; CDGS2; congenital disorder of glycosylation, type IIa; mental retardation, growth retardation, prominent columella, and open mouth
Alt IDs: OMIM:212066, MESH:C535752, ORDO:79329, UMLS_CUI:C2931008
Definition: A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MGAT2 gene on chromosome 14q21.3.

Disease References using Mouse Models (1)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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03/25/2025
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