congenital disorder of glycosylation type IIa

Term ID

DOID:0070253

Synonyms

Alkuraya syndrome
carbohydrate-deficient glycoprotein syndrome, type II
CDG IIa
CDG2A
CDGIIa
CDGS2
congenital disorder of glycosylation, type IIa
mental retardation, growth retardation, prominent columella, and open mouth

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

References

GARD:9828
MESH:C535752
MIM:212066
ORDO:79329
SNOMEDCT_US_2023_03_01:724142005
UMLS_CUI:C2931008

Ontology

Human Disease ( DOID:0070253 )

Relationships

is a type of: autosomal recessive disease congenital disorder of glycosylation type II

autosomal recessive disease congenital disorder of glycosylation type II Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models