C126871Level 8
Congenital Disorder of Glycosylation Type Ie
**Semantic type:** Disease or Syndrome
**Definition:** A congenital disorder of glycosylation sub-type caused by mutation(s) in the DPM1 gene, encoding dolichol-phosphate mannosyltransferase subunit 1.
**Synonyms:** - CDGIe
GET
/api/v1/systems/nci_thesaurus/nodes/C126871Hierarchy Explorer
Loading...
Cross-system equivalences0
No cross-system equivalences mapped for this node.