Congenital Disorder Of Glycosylation Type Iii
Disease ID: disease_node_20469
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| Dbxref | GARD:12348, MIM:613612, ORDO:263487 |
|---|---|
| Subclassof | DOID_0050571, DOID_0050737 |
| Data Source | DOID |
| Synonyms | CDG IIi, CDG syndrome type IIi, CDG2I, CDGIIi, COG5-CDG, Carbohydrate deficient glycoprotein syndrome type IIi, Congenital disorder of glycosylation type 2i |
| Doid Label | congenital disorder of glycosylation type IIi |
| Doid Description | A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG5 gene on chromosome 7q22.3. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20469 |
| Doid Id | DOID_0070261 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Disorder Of Glycosylation Type Iii |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)