FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term argininosuccinic aciduria ID (Ontology) DOID:14755 (Human Disease)
Definition An amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine.
Also Known As "Argininosuccinate lyase deficiency" ; "argininosuccinic acidemia" ; "arginosuccinase deficiency" (for all, see Synonyms field below)
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       1
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 Alleles Genes
 argininosuccinic aciduria       1      1
 for disease ribbon | argininosuccinic aciduria       --       1
 model of | argininosuccinic aciduria       1      1
Spanning Tree (Parents/Children)
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  inherited metabolic disorder
   |__amino acid metabolic disorder
       |__argininosuccinic aciduria  2 rec.
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Is a amino acid metabolic disorder
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Synonyms
  • "Argininosuccinate lyase deficiency" EXACT
    "argininosuccinic acidemia" EXACT
    "arginosuccinase deficiency" EXACT
    "deficiency of argininosuccinate lyase" EXACT
Secondary IDs
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GARD:5843
MESH:D056807
MIM:207900
NCI:C84569
SNOMEDCT_US_2023_03_01:41013004
UMLS_CUI:C0268547