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DO Term : congenital disorder of glycosylation type IIa [DOID:0070253] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MGAT2 gene on chromosome 14q21.3.

synonyms:
GARD:9828,
CDGIIa,
CDG2A,
mental retardation, growth retardation, prominent columella, and open mouth,
MESH:C535752,
Alkuraya syndrome,
congenital disorder of glycosylation, type IIa,
OMIM:212066,
212066,
CDGS2,
CDG IIa,
UMLS_CUI:C2931008,
ORDO:79329,
SNOMEDCT_US_2023_03_01:724142005,
carbohydrate-deficient glycoprotein syndrome, type II

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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