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bn:03651621n
Noun Concept
Categories: Neurological disorders, Cholesterol and steroid metabolism disorders, Autosomal recessive disorders
EN
Mevalonate kinase deficiency  mevalonic aciduria  Complete mevalonate kinase deficiency  Hyper-IgD syndrome  Hyper immunoglobin D syndrome
EN
Mevalonate kinase deficiency is an autosomal recessive metabolic disorder that disrupts the biosynthesis of cholesterol and isoprenoids. Wikipedia
Definitions
Relations
Sources
EN
Mevalonate kinase deficiency is an autosomal recessive metabolic disorder that disrupts the biosynthesis of cholesterol and isoprenoids. Wikipedia
A metabolic disorder Wikipedia Disambiguation
Human disease Wikidata
IS A
rare disease
genetic disease
peroxisomal disorder
GENETIC ASSOCIATION
mevalonate kinase
HEALTH SPECIALTY
neurology
endocrinology
hematology
immunology
medical genetics
MODE OF INHERITANCE
dominance
Wikipedia
EN
Mevalonate kinase deficiency
Wikidata
EN
mevalonic aciduria
Wikipedia Redirections
EN
Hyper-IgD syndrome, Hyper immunoglobin D syndrome, mevalonic aciduria, Mevalonicaciduria
Wikidata Alias
EN
Complete mevalonate kinase deficiency, Hyperimmunoglobulin D with Periodic Fever Syndrome, MEVA, Mevalonate Kinase Deficiency, Mevalonate kinase deficiency, MEVALONIC ACIDURIA, MEVALONIC ACIDURIA; MEVA, Mevalonicaciduria, MKD, MVA

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