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Argininosuccinic Aciduria

Disease ID: disease_node_12314

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DbxrefGARD:5843, MESH:D056807, MIM:207900, NCI:C84569, SNOMEDCT_US_2023_03_01:41013004, UMLS_CUI:C0268547
SubclassofDOID_9252
Data SourceDOID, MESH
SynonymsArgininosuccinate lyase deficiency, argininosuccinic acidemia, arginosuccinase deficiency, deficiency of argininosuccinate lyase
Mesh IdD056807
Mesh LabelArgininosuccinic Aciduria
Mesh SubclassofD056806
Doid Labelargininosuccinic aciduria
Doid DescriptionAn amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine. OMIM mapping confirmed by DO. [SN].
Disease Node Iddisease_node_12314
Doid IdDOID_14755
LabelArgininosuccinic Aciduria