| 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 | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance disease has basis in some Abnormality of prenatal development or birth |