| Metadata | |
|---|---|
| ID | DOID:0070256 |
| Name | congenital disorder of glycosylation type IId |
| Definition | A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the B4GALT1 gene on chromosome 9p21.1. https://www.ncbi.nlm.nih.gov/pubmed/11901181 |
| Xrefs |
SNOMEDCT_US_2023_03_01:725587007 |
| Subsets |
DO_rare_slim |
| Synonyms |
CDG IId [EXACT] CDG2D [EXACT] CDGIId [EXACT] |
| Parent Relationships |