ZFIN Human Disease: congenital disorder of glycosylation type IIa

OBO ID: DOID:0070253

Term Name:	congenital disorder of glycosylation type IIa		Search Ontology:
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 OMIM: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 congenital disorder of glycosylation type IIa PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
MGAT2	mgat2	Congenital disorder of glycosylation, type IIa	212066

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None