| 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 |
SNOMEDCT_US_2023_03_01:724142005 |
| 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 | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance disease has basis in some Abnormality of prenatal development or birth |