| Metadata | |
|---|---|
| ID | DOID:0070259 |
| Name | congenital disorder of glycosylation type IIg |
| Definition | A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG1 gene on chromosome 17q25.1. https://www.ncbi.nlm.nih.gov/pubmed/16537452 |
| Xrefs |
SNOMEDCT_US_2023_03_01:718750004 |
| Subsets |
DO_rare_slim |
| Synonyms |
Carbohydrate deficient glycoprotein syndrome type IIg [EXACT] CDG IIg [EXACT] CDG2G [EXACT] CDGII/COG1 cerebrocostomandibular-like syndrome [EXACT] CDGIIg [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 |