| Metadata | |
|---|---|
| ID | DOID:0070266 |
| Name | congenital disorder of glycosylation type IIn |
| Definition | A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC39A8 gene on chromosome 4q24. https://www.ncbi.nlm.nih.gov/pubmed/26637978 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Carbohydrate deficient glycoprotein syndrome type IIn [EXACT] CDG IIn [EXACT] CDG syndrome type IIn [EXACT] CDG2N [EXACT] CDGIIn [EXACT] Congenital disorder of glycosylation type 2n [EXACT] SLC39A8-CDG [EXACT] |
| Parent Relationships |