ONTOLOGY REPORT - ANNOTATIONS


Term:urea cycle disorder
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Accession:DOID:9267 term browser browse the term
Definition:Rare congenital metabolism disorders of the urea cycle. The disorders are due to mutations that result in complete (neonatal onset) or partial (childhood or adult onset) inactivity of an enzyme, involved in the urea cycle. Neonatal onset results in clinical features that include irritability, vomiting, lethargy, seizures, NEONATAL HYPOTONIA; RESPIRATORY ALKALOSIS; HYPERAMMONEMIA; coma, and death. Survivors of the neonatal onset and childhood/adult onset disorders share common risks for ENCEPHALOPATHIES, METABOLIC, INBORN; and RESPIRATORY ALKALOSIS due to HYPERAMMONEMIA.
Synonyms:exact_synonym: Inborn Urea Cycle Disorders;   disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia;   disorder of urea cycle metabolism;   inborn urea cycle disorder;   urea cycle defect;   urea cycle disorders
 primary_id: MESH:D056806
 alt_id: RDO:0000777
 xref: GARD:7837
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3-Methylcrotonyl CoA Carboxylase 1 Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mccc1 methylcrotonoyl-CoA carboxylase 1 JBrowse link 2 122,550,777 122,690,540 RGD:7240710
RGD:8554872
G Mccc2 methylcrotonoyl-CoA carboxylase 2 JBrowse link 2 30,175,017 30,246,028 RGD:8554872
3-Methylcrotonyl CoA Carboxylase 2 Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mccc2 methylcrotonoyl-CoA carboxylase 2 JBrowse link 2 30,175,017 30,246,028 RGD:7240710
RGD:8554872
3-Methylcrotonyl-CoA carboxylase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mccc1 methylcrotonoyl-CoA carboxylase 1 JBrowse link 2 122,550,777 122,690,540 RGD:13592920
G Mccc2 methylcrotonoyl-CoA carboxylase 2 JBrowse link 2 30,175,017 30,246,028 RGD:13592920
Adult-Onset Citrullinemia Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc25a13 solute carrier family 25 member 13 JBrowse link 4 31,134,165 31,757,006 RGD:1599241
RGD:8554872
RGD:11554173
RGD:7240710
RGD:1599242
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:8554872
RGD:13628399
RGD:11554173
RGD:7240710
autosomal recessive osteopetrosis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Car2 carbonic anhydrase 2 JBrowse link 2 88,097,740 88,112,868 RGD:7240710
RGD:8554872
carbamoyl phosphate synthetase I deficiency disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cps1 carbamoyl-phosphate synthase 1 JBrowse link 9 74,113,437 74,236,274 RGD:1600715
RGD:7240710
RGD:8554872
RGD:11554173
citrullinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ass1 argininosuccinate synthase 1 JBrowse link 3 10,327,411 10,375,847 RGD:1599301
RGD:8554872
RGD:7240710
G Loxhd1 lipoxygenase homology domains 1 JBrowse link 18 73,645,365 73,812,271 RGD:8554872
G Pcsk9 proprotein convertase subtilisin/kexin type 9 JBrowse link 5 126,031,368 126,053,726 RGD:8554872
G Slc25a13 solute carrier family 25 member 13 JBrowse link 4 31,134,165 31,757,006 RGD:8554872
RGD:13592920
G Slc25a15 solute carrier family 25 member 15 JBrowse link 16 74,505,318 74,554,523 RGD:1599240
RGD:1599239
CITRULLINEMIA TYPE 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arg1 arginase 1 JBrowse link 1 21,525,421 21,537,872 RGD:13628398
G Slc25a13 solute carrier family 25 member 13 JBrowse link 4 31,134,165 31,757,006 RGD:8554872
hyperargininemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arg1 arginase 1 JBrowse link 1 21,525,421 21,537,872 RGD:1599208
RGD:8554872
RGD:7240710
G Arntl aryl hydrocarbon receptor nuclear translocator-like JBrowse link 1 178,039,002 178,137,469 RGD:11554173
G Med23 mediator complex subunit 23 JBrowse link 1 21,539,765 21,587,675 RGD:8554872
N-Acetyl Glutamate Synthetase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nags N-acetylglutamate synthase JBrowse link 10 90,084,607 90,089,693 RGD:7240710
RGD:11554173
Neonatal-Onset Citrullinemia Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc25a13 solute carrier family 25 member 13 JBrowse link 4 31,134,165 31,757,006 RGD:7240710
RGD:8554872
ornithine carbamoyltransferase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Igfbp3 insulin-like growth factor binding protein 3 JBrowse link 14 87,457,647 87,465,374 RGD:12743607
G Otc ornithine carbamoyltransferase JBrowse link X 13,524,804 13,601,074 RGD:4144079
RGD:8554872
RGD:7240710
RGD:11554173
RGD:4144085
RGD:1600998
RGD:1600999
ornithine translocase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mrps31 mitochondrial ribosomal protein S31 JBrowse link 16 74,467,874 74,504,834 RGD:8554872
G Slc25a15 solute carrier family 25 member 15 JBrowse link 16 74,505,318 74,554,523 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    Nutritional and Metabolic Diseases 4249
      disease of metabolism 4249
        inherited metabolic disorder 1808
          Metabolic Brain Diseases, Inborn 385
            urea cycle disorder 17
              3-Methylcrotonyl-CoA carboxylase deficiency + 2
              CITRULLINEMIA TYPE 2 + 2
              Citrulline Transport Defect 0
              N-Acetyl Glutamate Synthetase Deficiency 1
              argininosuccinic aciduria 1
              autosomal recessive osteopetrosis 3 1
              carbamoyl phosphate synthetase I deficiency disease 1
              citrullinemia 5
              hyperargininemia 3
              ornithine carbamoyltransferase deficiency 2
              ornithine translocase deficiency 2
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            Metabolic Brain Diseases 441
              Metabolic Brain Diseases, Inborn 385
                urea cycle disorder 17
                  3-Methylcrotonyl-CoA carboxylase deficiency + 2
                  CITRULLINEMIA TYPE 2 + 2
                  Citrulline Transport Defect 0
                  N-Acetyl Glutamate Synthetase Deficiency 1
                  argininosuccinic aciduria 1
                  autosomal recessive osteopetrosis 3 1
                  carbamoyl phosphate synthetase I deficiency disease 1
                  citrullinemia 5
                  hyperargininemia 3
                  ornithine carbamoyltransferase deficiency 2
                  ornithine translocase deficiency 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.