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An Entity of Type : owl:Axiom, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Axiom
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
Type	http://purl.obolibrary.org/obo/ECO_0007637
annotatedProperty	http://purl.obolibrary.org/obo/IAO_0000115
annotatedSource	mevalonic aciduria
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.
database_cross_reference	url:https://rarediseases.info.nih.gov/diseases/3588/mevalonic-aciduria
is topic of	Human Disease Ontology

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