About: Isovaleric Acidemia     Goto   Sponge   Distinct   Permalink

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

AttributesValues
rdf:type
rdfs:label
  • Isovaleric Acidemia
rdfs:subClassOf
Has_NICHD_Parent
Concept_In_Subset
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Isovaleric Acidemia
UMLS_CUI
  • C0268575
Contributing_Source
  • NICHD
FULL_SYN
  • Isovaleric AcidemiaPTNCI
  • Isovaleryl-CoA Dehydrogenase DeficiencyPTNICHD
DEFINITION
  • A rare autosomal recessive inherited disorder caused by mutations in the IVD gene. It is characterized by abnormalities in the metabolism of leucine. Signs and symptoms vary from very mild to life threatening and include vomiting, seizures, lethargy, and coma.NCI
code
  • C98964
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