has material basis in germline mutation in COG7 skin disorder heart disorder congenital disorder of glycosylation type II COG7-congenital disorder of glycosylation https://github.com/monarch-initiative/mondo/issues/9285 COG7-CDG MEDGEN:419311 carbohydrate deficient glycoprotein syndrome type IIe MONDO:0012118 COG7-CDG (CDG-IIe) COG7-congenital disorder of glycosylation COG7-CDG is a congenital disorder of glycosylation characterized by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex. congenital disorder of glycosylation type IIe UMLS:C2931010 congenital disorder of glycosylation, type IIe congenital disorder of glycosylation type 2e CDG2E CDG syndrome type IIe DOID:0070257 CDG IIe GARD:0009842 Orphanet:79333 OMIM:608779 CDG 2E CDG-IIe SCTID:717773005 MESH:C535754 developmental anomaly of metabolic origin defect in conserved oligomeric Golgi complex