| Metadata | |
|---|---|
| ID | DOID:0070267 |
| Name | congenital disorder of glycosylation type IIo |
| Definition | A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the CCDC115 gene on chromosome 2q21.1. https://www.ncbi.nlm.nih.gov/pubmed/26833332 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Carbohydrate deficient glycoprotein syndrome type IIo [EXACT] CCDC115-CDG [EXACT] CDG IIo [EXACT] CDG syndrome type IIo [EXACT] CDG2O [EXACT] CDGIIo [EXACT] Congenital disorder of glycosylation type 2o [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 |