_:vb50941170 . _:vb50941170 . _:vb50941160 . _:vb50941166 . "ORDO:79325"^^ . _:vb50941169 . _:vb50941167 . _:vb50941169 . . . _:vb50941168 . _:vb50941168 . _:vb50941163 . _:vb50941168 . "OMIM:608104"^^ . _:vb50941169 . _:vb50941170 . "disease_ontology"^^ . _:vb50941167 . _:vb50941165 . "DOID:0080560"^^ . _:vb50941161 . _:vb50941170 . _:vb50941166 . _:vb50941164 . _:vb50941164 . _:vb50941165 . _:vb50941167 . _:vb50941165 . _:vb50941166 . "congenital disorder of glycosylation Ih"^^ . _:vb50941167 . "A congenital disorder of glycosylation I that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia and has_material_basis_in heterozygous mutation in the gene encoding dolichyl-P-glucose:Glc-1-Man-9-GlcNAc-2-PP-dolichyl-alpha-3-glucosyltransferase on chromosome 11q14."^^ . _:vb50941160 . _:vb50941161 . _:vb50941166 . _:vb50941164 . _:vb50941162 . _:vb50941163 . _:vb50941163 . "congenital disorder of glycosylation 1h"@en . _:vb50941161 . _:vb50941164 . _:vb50941165 . _:vb50941162 . _:vb50941168 . _:vb50941160 . "GARD:9834"^^ . _:vb50941161 . _:vb50941163 . . _:vb50941162 . _:vb50941160 . _:vb50941161 . _:vb50941167 . _:vb50941162 . _:vb50941168 . _:vb50941166 . _:vb50941169 . _:vb50941170 . _:vb50941163 . _:vb50941160 . _:vb50941169 . _:vb50941162 . _:vb50941164 . . _:vb50941165 .