Congenital Disorder Of Glycosylation Type Iip
Disease ID: disease_node_20463
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| Dbxref | MIM:616829, ORDO:466703 |
|---|---|
| Subclassof | DOID_0050571, DOID_0050737 |
| Data Source | DOID |
| Synonyms | CDG IIp, CDG syndrome type IIp, CDG2P, CDGIIp, Carbohydrate deficient glycoprotein syndrome type IIp, Congenital disorder of glycosylation type 2p, TMEM199-CDG |
| Doid Label | congenital disorder of glycosylation type IIp |
| Doid Description | A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the TMEM199 gene on chromosome 17q11.2. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20463 |
| Doid Id | DOID_0070268 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Disorder Of Glycosylation Type Iip |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)