ONTOLOGY REPORT - ANNOTATIONS


Term:argininosuccinic aciduria
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Accession:DOID:14755 term browser browse the term
Definition:Rare autosomal recessive disorder of the urea cycle which leads to the accumulation of argininosuccinic acid in body fluids and severe HYPERAMMONEMIA. Clinical features of the neonatal onset of the disorder include poor feeding, vomiting, lethargy, seizures, tachypnea, coma, and death. Later onset results in milder set of clinical features including vomiting, failure to thrive, irritability, behavioral problems, or psychomotor retardation. Mutations in the ARGININOSUCCINATE LYASE gene cause the disorder.
Synonyms:exact_synonym: ASA Deficiencies;   ASA Deficiency;   ASL Deficiencies;   ASL Deficiency;   Arginino Succinase Deficiencies;   Arginino Succinase Deficiency;   Argininosuccinase Deficiency;   Argininosuccinate Acidemia;   Argininosuccinate Acidemias;   Argininosuccinate Lyase Deficiencies;   Argininosuccinate Lyase Deficiency;   Argininosuccinic Acid Lyase Deficiency;   Argininosuccinic Acidemia;   Argininosuccinic Acidurias;   Argininosuccinicaciduria;   Argininosuccinicacidurias;   Argininosuccinyl-Coa Lyase Deficiency;   Arginosuccinase Deficiency;   Asauria;   Inborn Error of Urea Synthesis, Arginino Succinic Type;   Urea Cycle Disorder, Arginino Succinase Type;   deficiency of argininosuccinate lyase
 primary_id: MESH:D056807;   RDO:0007759
 alt_id: OMIM:207900
 xref: GARD:5843
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argininosuccinic aciduria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Asl argininosuccinate lyase JBrowse link 12 30,160,922 30,178,348 RGD:1302509
RGD:7240710
RGD:8554872
RGD:11554173
RGD:13628399

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  disease 14823
    Nutritional and Metabolic Diseases 4250
      disease of metabolism 4250
        inherited metabolic disorder 1808
          amino acid metabolic disorder 337
            argininosuccinic aciduria 1
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        central nervous system disease 6908
          brain disease 6412
            Metabolic Brain Diseases 441
              Metabolic Brain Diseases, Inborn 385
                urea cycle disorder 17
                  argininosuccinic aciduria 1
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