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Prefix	IRI
n4	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n5	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: n5:DOID_0080568
rdf:type: owl:Class
rdfs:subClassOf: _:vb50941204 _:vb50941205 _:vb50941206 _:vb50941200 _:vb50941201 _:vb50941202 _:vb50941203 n5:DOID_0050570 n5:DOID_0050737 _:vb50941196 _:vb50941197 _:vb50941198 _:vb50941199
rdfs:label: congenital disorder of glycosylation Iq
wdrs:describedby: n4:doid.owl
obo:id: DOID:0080568
obo:hasDbXref: ORDO:324737 OMIM:612379 GARD:12397
obo:hasExactSynonym: congenital disorder of glycosylation 1q
obo:hasOBONamespace: disease_ontology
n5:IAO_0000115: A congenital disorder of glycosylation I that is characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions and has_material_basis_in homozygous or compound heterozygous mutation in the SRD5A3 gene on chromosome 4q12.