Congenital Disorder Of Glycosylation Type Iil
Disease ID: disease_node_20466
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| Dbxref | GARD:10944, MIM:614576, ORDO:464443 |
|---|---|
| Subclassof | DOID_0050571, DOID_0050737 |
| Data Source | DOID |
| Synonyms | CDG IIl, CDG syndrome type IIL, CDG2L, CDGIIl, COG6-CGD, Congenital disorder of glycosylation type 2l |
| Doid Label | congenital disorder of glycosylation type IIl |
| Doid Description | A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG6 gene on chromosome 13q14.11. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20466 |
| Doid Id | DOID_0070264 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Disorder Of Glycosylation Type Iil |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)