Congenital Disorder Of Glycosylation Type Iio
Disease ID: disease_node_20464
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:616828, ORDO:468684 |
|---|---|
| Subclassof | DOID_0050571, DOID_0050737 |
| Data Source | DOID |
| Synonyms | CCDC115-CDG, CDG IIo, CDG syndrome type IIo, CDG2O, CDGIIo, Carbohydrate deficient glycoprotein syndrome type IIo, Congenital disorder of glycosylation type 2o |
| Doid Label | congenital disorder of glycosylation type IIo |
| Doid Description | A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the CCDC115 gene on chromosome 2q21.1. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20464 |
| Doid Id | DOID_0070267 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Disorder Of Glycosylation Type Iio |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)