ONTOLOGY REPORT - ANNOTATIONS


Term:Hyperammonemia
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Accession:DOID:9008972 term browser browse the term
Definition:Elevated level of AMMONIA in the blood. It is a sign of defective CATABOLISM of AMINO ACIDS or ammonia to UREA.
Synonyms:narrow_synonym: HYPERAMMONEMIA, TYPE III
 related_synonym: HYPERAMMONAEMIA
 primary_id: MESH:D022124;   RDO:0000602
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Hyperammonemia 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:1599267
G Cps1 carbamoyl-phosphate synthase 1 JBrowse link 9 74,113,437 74,236,274 RGD:11554173
G Glud1 glutamate dehydrogenase 1 JBrowse link 16 10,661,486 10,695,557 RGD:11554173
G Nags N-acetylglutamate synthase JBrowse link 10 90,084,607 90,089,693 RGD:11554173
RGD:8554872
G Otc ornithine carbamoyltransferase JBrowse link X 13,524,804 13,601,074 RGD:1600999
RGD:8554872
RGD:11554173
RGD:1600998
G Prkcq protein kinase C, theta JBrowse link 17 70,971,915 71,105,286 RGD:1625610
G Slc25a15 solute carrier family 25 member 15 JBrowse link 16 74,505,318 74,554,523 RGD:1599240
RGD:1599239
G Tlr5 toll-like receptor 5 JBrowse link 13 101,364,784 101,385,764 RGD:11554173
G Tyms thymidylate synthetase JBrowse link 9 121,918,875 121,931,564 RGD:11554173
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ca5a carbonic anhydrase 5A JBrowse link 19 54,731,829 54,761,697 RGD:7240710
RGD:8554872
G Cps1 carbamoyl-phosphate synthase 1 JBrowse link 9 74,113,437 74,236,274 RGD:13628400
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:1600999
RGD:1600998
RGD:4144085
RGD:8554872
RGD:11554173
RGD:7240710
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
systemic primary carnitine deficiency disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnf167 ring finger protein 167 JBrowse link 10 57,268,331 57,272,667 RGD:8554872
G Slc22a5 solute carrier family 22 member 5 JBrowse link 10 39,201,101 39,228,090 RGD:1580611
RGD:8554872
RGD:11554173
RGD:7240710

Term paths to the root
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Term Annotations click to browse term
  disease 14919
    Pathological Conditions, Signs and Symptoms 7740
      Pathologic Processes 4923
        Hyperammonemia 14
          CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO 2
          ornithine carbamoyltransferase deficiency 2
          ornithine translocase deficiency 2
          systemic primary carnitine deficiency disease 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.