mevalonic aciduria

Term ID

DOID:0050452

Synonyms

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

References

• GARD:3588
• ICD10CM:M04.1
• MESH:D054078
• NCI:C84890
• OMIM:610377
• ORDO:29
• SNOMEDCT_US_2023_03_01:124327008
• SNOMEDCT_US_2023_03_01:234538002
• UMLS_CUI:C0342731
• UMLS_CUI:C0398691
• UMLS_CUI:C1959626

Ontology

Human Disease   ( DOID:0050452 )