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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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;   NCI:C84569
For additional species annotation, visit the Alliance of Genome Resources.


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argininosuccinic aciduria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asl argininosuccinate lyase ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by OMIM:207900
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Argininosuccinate lyase deficiency
protein:decreased expression:liver,erythrocyte,fibroblast, amniocyte
OMIM
ClinVar
CTD
PMID:203629 PMID:705937 PMID:1705937 PMID:2263616 PMID:3106853 PMID:9045711 PMID:9256435 PMID:9536098 PMID:9686346 PMID:10896281 PMID:11747432 PMID:11747433 PMID:12384776 PMID:12408190 PMID:15273245 PMID:16435180 PMID:16941645 PMID:17326097 PMID:17576681 PMID:18616627 PMID:19703900 PMID:20236848 PMID:20298553 PMID:21667091 PMID:21744316 PMID:22081021 PMID:22231378 PMID:22541557 PMID:23430928 PMID:24033266 PMID:24136197 PMID:24166829 PMID:24516753 PMID:25087612 PMID:25433810 PMID:25525159 PMID:25741868 PMID:25778938 PMID:26661037 PMID:26745957 PMID:26843370 PMID:27515243 PMID:28251416 PMID:28492532 PMID:28600779 PMID:29326055 PMID:29773863 PMID:30285816 PMID:31030429 PMID:31156699 PMID:31709144 PMID:31943503, PMID:12408190, PMID:3440446 RGD:1302509, RGD:13628399 NCBI chr12:30,160,922...30,178,348
Ensembl chr12:30,165,694...30,178,341
JBrowse link
G Gusb glucuronidase, beta ISO ClinVar Annotator: match by term: Argininosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr12:30,202,066...30,215,583
Ensembl chr12:30,198,822...30,227,771
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    Nutritional and Metabolic Diseases 5213
      disease of metabolism 5213
        inherited metabolic disorder 2355
          amino acid metabolic disorder 448
            argininosuccinic aciduria 2
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        central nervous system disease 10192
          brain disease 9565
            Metabolic Brain Diseases 586
              Metabolic Brain Diseases, Inborn 516
                urea cycle disorder 47
                  argininosuccinic aciduria 2
paths to the root