| Metadata | |
|---|---|
| ID | DOID:0070269 |
| Name | congenital disorder of glycosylation type IIq |
| Definition | A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG2 gene on chromosome 1q42.2. https://www.ncbi.nlm.nih.gov/pubmed/24784932 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
CDG IIq [EXACT] CDG2Q [EXACT] CDGIIq [EXACT] COG2-CDG [EXACT] COG2-related congenital disorder of glycosylation [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 |