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Namespace Prefixes

PrefixIRI
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owlhttp://www.w3.org/2002/07/owl#
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Statements

Subject Item
_:vb50941171
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wdrs:describedby
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dc:type
n3:ECO_0007645
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n3:IAO_0000115
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n3:DOID_0080560
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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.
obo:hasDbXref
url:https://www.ncbi.nlm.nih.gov/pubmed/28108845