| Metadata | |
|---|---|
| ID | DOID:0050452 |
| Name | mevalonic aciduria |
| 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 |
| Xrefs |
SNOMEDCT_US_2023_03_01:124327008 SNOMEDCT_US_2023_03_01:234538002 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Mevalonate Kinase Deficiency [EXACT] |
| Parent Relationships |
is_a peroxisomal disease |