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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
mevalonic aciduria
Summary
- Synonym
-
- Mevalonate Kinase Deficiency
- 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.
- Super Class
- peroxisomal disease
External Links
- Disease Ontology
- DOID:0050452
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
- WikiPathways (from TogoID)
Related Genes
