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Namespace Prefixes

Prefix	IRI
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n3	http://purl.obolibrary.org/obo/
wdrs	http://www.w3.org/2007/05/powder-s#
dc	http://purl.org/dc/elements/1.1/
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

_:vb50936856

rdf:type

owl:Axiom

wdrs:describedby

n5:doid.owl

dc:type

n3:ECO_0007637

owl:annotatedProperty

n3:IAO_0000115

owl:annotatedSource

n3:DOID_0050452

owl:annotatedTarget

A peroxisomal disease that is characterized by cortical atrophy, microcephaly, dysmorphic facies, muscular hypotonia and intellectual disability and has_material_basis_in mutation in the MVK gene that results in deficiency of mevalonate kinase and impaired cholesterol. biosynthesis.

obo:hasDbXref

url:https://rarediseases.info.nih.gov/diseases/3588/mevalonic-aciduria