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Metadata
ID DOID:14755
Name argininosuccinic aciduria
Definition An amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine.
http://en.wikipedia.org/wiki/Argininosuccinic_aciduria
Xrefs

GARD:5843

MESH:D056807

MIM:207900

NCI:C84569

SNOMEDCT_US_2023_03_01:41013004

UMLS_CUI:C0268547

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

Argininosuccinate lyase deficiency [EXACT]

argininosuccinic acidemia [EXACT]

arginosuccinase deficiency [EXACT]

deficiency of argininosuccinate lyase [EXACT]

Parent Relationships

is_a amino acid metabolic disorder

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