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Prefix	IRI
n7	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n2	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: n2:DOID_0080570
rdf:type: owl:Class
rdfs:subClassOf: n2:DOID_0050570 n2:DOID_0050737 _:vb50941212 _:vb50941213 _:vb50941214
rdfs:label: congenital disorder of glycosylation It
wdrs:describedby: n7:doid.owl
obo:id: DOID:0080570
obo:hasDbXref: ORDO:319646 OMIM:614921
obo:hasExactSynonym: congenital disorder of glycosylation 1t
obo:hasOBONamespace: disease_ontology
n2:IAO_0000115: A congenital disorder of glycosylation I that is characterized by a wide range of clinical manifestations, most commonly presenting with bifid uvula with or without cleft palate at birth, associated with growth delay, hepatopathy with elevated aminotransferase serum levels, myopathy (including exercise-related fatigue, exercise intolerance, muscle weakness), intermittent hypoglycemia, and dilated cardiomyopathy and/or cardiac arrest, due to decreased phosphoglucomutase 1 enzyme activity and has_material_basis_in homozygous or compound heterozygous mutation in the PGM1 gene on chromosome 1p31.