Congenital Disorder Of Glycosylation Type Iij
Disease ID: disease_node_20468
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| Dbxref | GARD:12412, MIM:613489, ORDO:263501 |
|---|---|
| Subclassof | DOID_0050571, DOID_0050737 |
| Data Source | DOID |
| Synonyms | CDG IIj, CDG syndrome type IIj, CDG2J, CDGIIj, COG4-CDG, Carbohydrate deficient glycoprotein syndrome type IIj, Congenital disorder of glycosylation type 2j |
| Doid Label | congenital disorder of glycosylation type IIj |
| Doid Description | A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG4 gene on chromosome 16q22.1. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20468 |
| Doid Id | DOID_0070262 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Disorder Of Glycosylation Type Iij |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)