SPARQL | HTML Microdata document
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Namespace Prefixes
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#
Statements
Subject Item n2:DOID_0111749
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_0111143
rdfs:label
mitochondrial complex V (ATP synthase) deficiency nuclear type 6
wdrs:describedby
n7:doid.owl
obo:id
DOID:0111749
obo:hasDbXref
OMIM:618683
obo:hasExactSynonym
MC5DN6
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A mitochondrial complex V (ATP synthase) deficiency characterized by episodic regression of gross motor skills beginning in early childhood that has_material_basis_in homozygous or compound heterozygous mutation in ATP5MD on chromosome 10q24.33.