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Summary Literature (0)
DOID:0050452 - mevalonic aciduria

Disease Ontology Definition: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.

Synonyms: Mevalonate Kinase Deficiency

Xenbase Genes : mvk

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0012481 - cloacal epithelium

MIM:
MIM:610377 - MEVALONIC ACIDURIA; MEVA

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): genetic disease (is_a), peroxisomal disease (is_a)