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Argininemia

^ http://www.orpha.net/ORDO/Orphanet_90


Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment.

Synonyms: Arginase deficiency, Hyperargininemia

Term info

database cross reference
  • MeSH:D020162 (E (exact mapping (the terms and the concepts are equivalent)))
  • ICD-10:E72.2 (Attributed)
  • MedDRA:10062695 (E (exact mapping (the terms and the concepts are equivalent)))
  • ICD-10:E72.2 (NTBT (narrower term maps to a broader term))
  • OMIM:207800 (E (exact mapping (the terms and the concepts are equivalent)))
  • UMLS:C0268548 (E (exact mapping (the terms and the concepts are equivalent)))
hasDbXref

MeSH:D020162, OMIM:207800, UMLS:C0268548, MedDRA:10062695, ICD-10:E72.2

notation

ORPHA:90