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Disease Ontology Browser
mevalonic aciduria (DOID:0050452)
Alliance: disease page
Synonyms: Mevalonate Kinase Deficiency
Alt IDs: OMIM:610377, ICD10CM:M04.1, MESH:D054078, NCI:C84890, ORDO:29, UMLS_CUI:C0342731, UMLS_CUI:C0398691, UMLS_CUI:C1959626
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory