| Metadata | |
|---|---|
| ID | DOID:0070258 |
| Name | congenital disorder of glycosylation type IIf |
| Definition | A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35A1 gene on chromosome 6q15. https://www.ncbi.nlm.nih.gov/pubmed/11157507 |
| Xrefs |
SNOMEDCT_US_2023_03_01:723624008 |
| Subsets |
DO_rare_slim |
| Synonyms |
Carbohydrate deficient glycoprotein syndrome type IIf [EXACT] CDG IIf [EXACT] CDG2F [EXACT] CDGIIf [EXACT] CMP-sialic acid transporter deficiency [EXACT] SLC35A1-CDG [EXACT] |
| Parent Relationships |