| Metadata | |
|---|---|
| ID | DOID:0070261 |
| Name | congenital disorder of glycosylation type IIi |
| Definition | A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG5 gene on chromosome 7q22.3. https://www.ncbi.nlm.nih.gov/pubmed/19690088 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Carbohydrate deficient glycoprotein syndrome type IIi [EXACT] CDG IIi [EXACT] CDG syndrome type IIi [EXACT] CDG2I [EXACT] CDGIIi [EXACT] COG5-CDG [EXACT] Congenital disorder of glycosylation type 2i [EXACT] |
| Parent Relationships |