OBO ID: DOID:0050452
Term Name: mevalonic aciduria Search Ontology:
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 )
Relationships
is a type of:
OTHER mevalonic aciduria PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MVK Mevalonic aciduria 610377
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.