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Prefix	IRI
n6	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n3	http://purl.obolibrary.org/obo/
wdrs	http://www.w3.org/2007/05/powder-s#
rdfs	http://www.w3.org/2000/01/rdf-schema#
obo	http://www.geneontology.org/formats/oboInOwl#
rdf	http://www.w3.org/1999/02/22-rdf-syntax-ns#
owl	http://www.w3.org/2002/07/owl#
xsdh	http://www.w3.org/2001/XMLSchema#

Subject Item: n3:DOID_0080560
rdf:type: owl:Class
rdfs:subClassOf: n3:DOID_0050570 _:vb50941164 _:vb50941165 _:vb50941166 _:vb50941167 _:vb50941160 _:vb50941161 _:vb50941162 _:vb50941163 n3:DOID_0050737 _:vb50941168 _:vb50941169 _:vb50941170
rdfs:label: congenital disorder of glycosylation Ih
wdrs:describedby: n6:doid.owl
obo:id: DOID:0080560
obo:hasDbXref: ORDO:79325 OMIM:608104 GARD:9834
obo:hasExactSynonym: congenital disorder of glycosylation 1h
obo:hasOBONamespace: disease_ontology
n3:IAO_0000115: 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.