Metadata | |
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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 |