Congenital Disorder Of Glycosylation Type Iik
Disease ID: disease_node_20467
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| Dbxref | GARD:12413, MIM:614727, ORDO:314667 |
|---|---|
| Subclassof | DOID_0050571, DOID_0050737 |
| Data Source | DOID |
| Synonyms | CDG IIk, CDG syndrome type IIk, CDG2K, CDGIIk, Carbohydrate deficient glycoprotein syndrome type IIk, Congenital disorder of glycosylation type 2k, TMEM165-CDG |
| Doid Label | congenital disorder of glycosylation type IIk |
| Doid Description | A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the TMEM165 gene on chromosome 4q12. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20467 |
| Doid Id | DOID_0070263 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Disorder Of Glycosylation Type Iik |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)