WormBase Tree Display for DO_term: DOID:0070253
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| DOID:0070253 | Name | congenital disorder of glycosylation type IIa | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Synonym | Exact | Alkuraya syndrome | |||
| CDG IIa | |||||
| CDG2A | |||||
| CDGIIa | |||||
| CDGS2 | |||||
| carbohydrate-deficient glycoprotein syndrome, type II | |||||
| congenital disorder of glycosylation, type IIa | |||||
| mental retardation, growth retardation, prominent columella, and open mouth | |||||
| Parent | Is_a | DOID:0050571 | |||
| DOID:0050737 | |||||
| DB_info | Database | OMIM | disease | 212066 | |
| Attribute_of | Gene_by_orthology | WBGene00001645 |
