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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:9686346, PMID:10896281, PMID:11747432, PMID:11747433, PMID:12384776, PMID:12408190, PMID:15273245, PMID:16435180, PMID:16941645, PMID:17326097, 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: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 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        inherited metabolic disorder 2237
          amino acid metabolic disorder 433
            argininosuccinic aciduria 2
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            Metabolic Brain Diseases 576
              Metabolic Brain Diseases, Inborn 505
                urea cycle disorder 45
                  argininosuccinic aciduria 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.