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Namespace Prefixes

PrefixIRI
n7https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n4http://purl.obolibrary.org/obo/
wdrshttp://www.w3.org/2007/05/powder-s#
dchttp://purl.org/dc/elements/1.1/
obohttp://www.geneontology.org/formats/oboInOwl#
rdfhttp://www.w3.org/1999/02/22-rdf-syntax-ns#
owlhttp://www.w3.org/2002/07/owl#
xsdhhttp://www.w3.org/2001/XMLSchema#

Statements

Subject Item
_:vb50939413
rdf:type
owl:Axiom
wdrs:describedby
n7:doid.owl
dc:type
n4:ECO_0007645
owl:annotatedProperty
n4:IAO_0000115
owl:annotatedSource
n4:DOID_0060796
owl:annotatedTarget
A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of severely delayed or even lack of psychomotor development that becomes apparent in the first months of life, acquired microcephaly and delayed myelination that has_material_basis_in homozygous mutation in the VPS11 gene on chromosome 11q23.
obo:hasDbXref
url:https://www.ncbi.nlm.nih.gov/pubmed/26307567 url:https://www.ncbi.nlm.nih.gov/pubmed/27120463