Metadata | |
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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 |