| Metadata | |
|---|---|
| ID | DOID:0070262 |
| Name | congenital disorder of glycosylation type IIj |
| Definition | A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG4 gene on chromosome 16q22.1. https://www.ncbi.nlm.nih.gov/pubmed/19494034 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Carbohydrate deficient glycoprotein syndrome type IIj [EXACT] CDG IIj [EXACT] CDG syndrome type IIj [EXACT] CDG2J [EXACT] CDGIIj [EXACT] COG4-CDG [EXACT] Congenital disorder of glycosylation type 2j [EXACT] |
| Parent Relationships |