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mevalonic aciduria

Go to external page http://purl.obolibrary.org/obo/DOID_0050452

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. [ http://purl.obolibrary.org/obo/ECO_0007637 url:https://rarediseases.info.nih.gov/diseases/3588/mevalonic-aciduria ]

Synonyms: Mevalonate Kinase Deficiency

This is just here as a test because I lose it

Term information

database cross reference
  • NCI:C84890
  • ORDO:29
  • GARD:3588
  • SNOMEDCT_US_2023_03_01:234538002
  • MIM:610377
  • UMLS_CUI:C1959626
  • ICD10CM:M04.1
  • MESH:D054078
  • UMLS_CUI:C0342731
  • UMLS_CUI:C0398691
  • SNOMEDCT_US_2023_03_01:124327008
Subsets

DO_rare_slim, NCIthesaurus

comment

OMIM mapping confirmed by DO. [SN].

has obo namespace

disease_ontology

id

DOID:0050452