| Metadata | |
|---|---|
| ID | DOID:0070254 |
| Name | congenital disorder of glycosylation type IIb |
| Definition | A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MOGS gene on chromosome 2p13.1. https://www.ncbi.nlm.nih.gov/pubmed/10788335 |
| Xrefs |
SNOMEDCT_US_2023_03_01:725028009 |
| Subsets |
DO_rare_slim |
| Synonyms |
CDG IIb [EXACT] CDG2B [EXACT] CDGIIb [EXACT] glucosidase I deficiency [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 |