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

AttributesValues
rdf:type
rdfs:label
  • Argininemia
rdfs:subClassOf
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Argininemia
UMLS_CUI
  • C0268548
FULL_SYN
  • ArgininemiaPTNCI
  • HyperargininemiaSYNCI
DEFINITION
  • A rare autosomal recessive metabolic disorder characterized by a deficiency of the enzyme arginase resulting in accumulation of arginine and urea in the blood and cerebrospinal fluid. Signs and symptoms include developmental delays, spasticity, ataxia, seizures and mental retardation.NCI
code
  • C84568
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