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Metadata
ID DOID:0070253
Name congenital disorder of glycosylation type IIa
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.
https://www.ncbi.nlm.nih.gov/pubmed/8127054
Xrefs

GARD:9828

MESH:C535752

OMIM:212066

ORDO:79329

SNOMEDCT_US_2023_03_01:724142005

UMLS_CUI:C2931008

Subsets

DO_rare_slim

Synonyms

Alkuraya syndrome [EXACT]

carbohydrate-deficient glycoprotein syndrome, type II [EXACT]

CDG IIa [EXACT]

CDG2A [EXACT]

CDGIIa [EXACT]

CDGS2 [EXACT]

congenital disorder of glycosylation, type IIa [EXACT]

mental retardation, growth retardation, prominent columella, and open mouth [EXACT]

Parent Relationships

is_a autosomal recessive disease

is_a congenital disorder of glycosylation type II

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