Congenital Disorder Of Glycosylation Type Iin
Disease ID: disease_node_20465
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| Dbxref | MIM:616721, ORDO:468699 |
|---|---|
| Subclassof | DOID_0050571, DOID_0050737 |
| Data Source | DOID |
| Synonyms | CDG IIn, CDG syndrome type IIn, CDG2N, CDGIIn, Carbohydrate deficient glycoprotein syndrome type IIn, Congenital disorder of glycosylation type 2n, SLC39A8-CDG |
| Doid Label | congenital disorder of glycosylation type IIn |
| Doid Description | A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC39A8 gene on chromosome 4q24. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20465 |
| Doid Id | DOID_0070266 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Disorder Of Glycosylation Type Iin |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)