Ontologiesccoclasses207800   
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ArgininemiaImported
http://identifiers.org/omim/207800

(ARGIN) - A rare autosomal recessive disorder of the urea cycle. Arginine is elevated in the blood and cerebrospinal fluid, and periodic hyperammonemia occurs. Clinical manifestations include developmental delay, seizures, mental retardation, hypotonia, ataxia and progressive spastic quadriplegia.

Also appears ingexoretorexo
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alternative label

ARGIN

preferred label

Argininemia

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