Metadata | |
---|---|
ID | DOID:0070257 |
Name | congenital disorder of glycosylation type IIe |
Definition | A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG7 gene on chromosome 16p12.2. https://www.ncbi.nlm.nih.gov/pubmed/15107842 |
Xrefs |
SNOMEDCT_US_2023_03_01:717773005 |
Subsets |
DO_rare_slim |
Synonyms |
Carbohydrate deficient glycoprotein syndrome type IIe [EXACT] CDG IIe [EXACT] CDG syndrome type IIe [EXACT] CDG2E [EXACT] CDGIIe [EXACT] COG7-CDG [EXACT] |
Parent Relationships |