About: Mevalonate Kinase Deficiency     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz:8890 associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • Mevalonate Kinase Deficiency
rdfs:subClassOf
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Mevalonate Kinase Deficiency
UMLS_CUI
  • C0342731
FULL_SYN
  • Mevalonate Kinase DeficiencyPTNCI
DEFINITION
  • A very rare autosomal recessive disorder of cholesterol biosynthesis. It is caused by a deficiency of the enzyme mevalonate kinase, resulting in the accumulation of mevalonic acid in the urine. Signs and symptoms include psychomotor retardation, ataxia, recurrent fevers, skin rash, hepatosplenomegaly, and lymphadenopathy.NCI
code
  • C84890
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