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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: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

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Hyperammonemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ass1 argininosuccinate synthase 1 ISO RGD PMID:10353334 RGD:1599267 NCBI chrNW_004624760:5,180,095...5,221,677
Ensembl chrNW_004624760:5,180,095...5,221,732 		JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8486760 PMID:17310273 NCBI chrNW_004624765:5,527,029...5,652,343
Ensembl chrNW_004624765:5,528,112...5,651,415 		JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9571255 NCBI chrNW_004624841:133,267...171,324 JBrowse link
G Nags N-acetylglutamate synthase ISO ClinVar Annotator: match by term: Hyperammonemia, type III ClinVar PMID:9877039 PMID:12594532 PMID:12754705 PMID:15050968 PMID:15714518 More... NCBI chrNW_004624795:875,463...879,283
Ensembl chrNW_004624795:875,750...879,256 		JBrowse link
G Otc ornithine transcarbamylase ISO ClinVar Annotator: match by term: Hyperammonaemia | ClinVar Annotator: match by term: Hyperammonemia ClinVar PMID:8807340 PMID:17613537 PMID:18204299 PMID:18440262 PMID:25637381 More... NCBI chrNW_004624762:17,038,223...17,104,853
Ensembl chrNW_004624762:17,038,223...17,104,965 		JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO ClinVar Annotator: match by term: Hyperammonaemia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624730:12,662,419...12,811,112
Ensembl chrNW_004624730:12,661,777...12,810,991 		JBrowse link
G Prkcq protein kinase C theta ISO protein:altered localization:neuron RGD PMID:15606904 RGD:1625610 NCBI chrNW_004624775:1,419,596...1,543,805
Ensembl chrNW_004624775:1,419,509...1,502,064 		JBrowse link
G Pyy peptide YY ISO ClinVar Annotator: match by term: Hyperammonemia, type III ClinVar PMID:28492532 PMID:30337552 PMID:33309754 PMID:34510628 NCBI chrNW_004624795:887,963...903,315
Ensembl chrNW_004624795:902,260...903,409 		JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO RGD PMID:10369256 PMID:10805333 RGD:1599239 RGD:1599240 NCBI chrNW_004624748:1,666,124...1,689,021 JBrowse link
G Tlr5 toll like receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30508503 NCBI chrNW_004624835:5,495,723...5,503,462
Ensembl chrNW_004624835:5,500,461...5,503,034 		JBrowse link
G Tyms thymidylate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20714149 NCBI chrNW_004624770:11,138,673...11,149,600
Ensembl chrNW_004624770:11,138,652...11,149,600 		JBrowse link
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Banp BTG3 associated nuclear protein ISO ClinVar Annotator: match by term: Carbonic anhydrase VA deficiency, hyperammonemia due to ClinVar PMID:24530203 PMID:26913920 PMID:28492532 NCBI chrNW_004624746:1,205,212...1,287,108
Ensembl chrNW_004624746:1,203,275...1,286,241 		JBrowse link
G Ca5a carbonic anhydrase 5A ISO ClinVar Annotator: match by term: Carbonic anhydrase VA deficiency, hyperammonemia due to OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24530203 PMID:25640679 PMID:25741868 More... NCBI chrNW_004624746:1,293,619...1,323,067
Ensembl chrNW_004624746:1,293,875...1,315,890 		JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 treatment ISO RGD PMID:29801986 RGD:13628400 NCBI chrNW_004624765:5,527,029...5,652,343
Ensembl chrNW_004624765:5,528,112...5,651,415 		JBrowse link
G Jph3 junctophilin 3 ISO ClinVar Annotator: match by term: Carbonic anhydrase VA deficiency, hyperammonemia due to ClinVar PMID:24530203 PMID:26913920 PMID:28492532 NCBI chrNW_004624746:3,193,695...3,243,916
Ensembl chrNW_004624746:3,193,687...3,242,444 		JBrowse link
G Slc7a5 solute carrier family 7 member 5 ISO ClinVar Annotator: match by term: Carbonic anhydrase VA deficiency, hyperammonemia due to ClinVar PMID:24530203 PMID:26913920 PMID:28492532 NCBI chrNW_004624746:1,325,368...1,349,616 JBrowse link
G Znf469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Carbonic anhydrase VA deficiency, hyperammonemia due to ClinVar PMID:24530203 PMID:26913920 PMID:28492532 NCBI chrNW_004624746:1,043,117...1,074,776 JBrowse link
ornithine carbamoyltransferase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6ap2 ATPase H+ transporting accessory protein 2 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chrNW_004624762:14,952,313...14,975,678
Ensembl chrNW_004624762:14,952,002...14,975,900 		JBrowse link
G Bcor BCL6 corepressor ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chrNW_004624762:15,338,331...15,465,683
Ensembl chrNW_004624762:15,420,596...15,465,873 		JBrowse link
G Cfap47 cilia and flagella associated protein 47 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chrNW_004624762:19,075,485...19,603,914 JBrowse link
G CUNHXorf38 chromosome unknown CXorf38 homolog ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chrNW_004624762:14,906,973...14,927,869
Ensembl chrNW_004624762:14,906,980...14,924,250 		JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chrNW_004624762:22,306,962...24,846,427
Ensembl chrNW_004624762:22,746,729...24,847,938 		JBrowse link
G Dynlt3 dynein light chain Tctex-type 3 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:10946359 PMID:11793468 PMID:16055928 PMID:16786505 PMID:16969763 More... NCBI chrNW_004624762:17,734,738...17,747,418
Ensembl chrNW_004624762:17,734,769...17,747,527 		JBrowse link
G Gk glycerol kinase ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chrNW_004624762:25,268,398...25,357,165
Ensembl chrNW_004624762:25,270,270...25,357,167 		JBrowse link
G Hypm huntingtin interacting protein M ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:10946359 PMID:11793468 PMID:16055928 PMID:16786505 PMID:16969763 More... NCBI chrNW_004624762:17,577,088...17,577,662 JBrowse link
G Igfbp3 insulin like growth factor binding protein 3 treatment ISO RGD PMID:16703326 RGD:12743607 NCBI chrNW_004624740:6,878,818...6,886,512
Ensembl chrNW_004624740:6,877,348...6,886,512 		JBrowse link
G Lancl3 LanC like family member 3 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chrNW_004624762:17,916,148...18,033,799
Ensembl chrNW_004624762:17,925,158...18,033,734 		JBrowse link
G LOC101709509 cytochrome b-245 heavy chain ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:10946359 PMID:11793468 PMID:16055928 PMID:16786505 PMID:16969763 More... NCBI chrNW_004624762:17,759,625...17,793,434
Ensembl chrNW_004624762:17,757,404...17,793,467 		JBrowse link
G Mageb16 MAGE family member B16 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chrNW_004624762:19,674,668...19,720,676 JBrowse link
G Med14 mediator complex subunit 14 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chrNW_004624762:14,832,485...14,903,119
Ensembl chrNW_004624762:14,832,816...14,904,882 		JBrowse link
G Mid1ip1 MID1 interacting protein 1 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chrNW_004624762:16,678,350...16,680,691
Ensembl chrNW_004624762:16,678,273...16,680,729 		JBrowse link
G Mpc1l mitochondrial pyruvate carrier 1 like ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chrNW_004624762:14,929,555...14,930,237
Ensembl chrNW_004624762:14,929,697...14,930,107 		JBrowse link
G Nr0b1 nuclear receptor subfamily 0 group B member 1 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chrNW_004624762:25,759,976...25,769,543
Ensembl chrNW_004624762:25,764,452...25,769,487 		JBrowse link
G Otc ornithine transcarbamylase ISO ClinVar Annotator: match by term: OTC deficiency | ClinVar Annotator: match by term: OTC-related condition | ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency OMIM
ClinVar		 PMID:1353535 PMID:1480464 PMID:1627356 PMID:1671317 PMID:1721894 More... NCBI chrNW_004624762:17,038,223...17,104,853
Ensembl chrNW_004624762:17,038,223...17,104,965 		JBrowse link
G Prrg1 proline rich and Gla domain 1 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chrNW_004624762:18,273,401...18,379,796
Ensembl chrNW_004624762:18,273,434...18,378,802 		JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:10946359 PMID:11793468 PMID:16055928 PMID:16786505 PMID:16969763 More... NCBI chrNW_004624762:17,135,870...17,199,693 JBrowse link
G Srpx sushi repeat containing protein X-linked ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:10946359 PMID:11793468 PMID:16055928 PMID:16786505 PMID:16969763 More... NCBI chrNW_004624762:17,240,899...17,347,430
Ensembl chrNW_004624762:17,240,816...17,347,523 		JBrowse link
G Sytl5 synaptotagmin like 5 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:10946359 PMID:11793468 PMID:16055928 PMID:16786505 PMID:16969763 More... NCBI chrNW_004624762:17,401,304...17,659,757
Ensembl chrNW_004624762:17,400,875...17,547,947 		JBrowse link
G Tab3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chrNW_004624762:25,107,234...25,177,268 JBrowse link
G Tasl TLR adaptor interacting with endolysosomal SLC15A4 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chrNW_004624762:25,427,519...25,448,180
Ensembl chrNW_004624762:25,430,926...25,448,114 		JBrowse link
G Tmem47 transmembrane protein 47 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chrNW_004624762:21,100,254...21,129,793
Ensembl chrNW_004624762:21,100,133...21,129,895 		JBrowse link
G Tspan7 tetraspanin 7 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chrNW_004624762:16,767,493...16,911,713
Ensembl chrNW_004624762:16,768,758...16,911,804 		JBrowse link
G Usp9x ubiquitin specific peptidase 9 X-linked ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chrNW_004624762:14,403,361...14,527,854
Ensembl chrNW_004624762:14,405,560...14,527,639 		JBrowse link
G Xk X-linked Kx blood group antigen, Kell and VPS13A binding protein ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:10946359 PMID:11793468 PMID:16055928 PMID:16786505 PMID:16969763 More... NCBI chrNW_004624762:17,856,746...17,915,975
Ensembl chrNW_004624762:17,856,731...17,914,938 		JBrowse link
ornithine translocase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a15 solute carrier family 25 member 15 ISO ClinVar Annotator: match by term: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | ClinVar Annotator: match by term: Ornithine translocase deficiency OMIM
ClinVar		 PMID:3407856 PMID:9536098 PMID:10369256 PMID:10805333 PMID:11355015 More... NCBI chrNW_004624748:1,666,124...1,689,021 JBrowse link
systemic primary carnitine deficiency disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acsl6 acyl-CoA synthetase long chain family member 6 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chrNW_004624733:40,105,795...40,157,108
Ensembl chrNW_004624733:40,105,806...40,160,221 		JBrowse link
G Cdc42se2 CDC42 small effector 2 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chrNW_004624733:40,633,503...40,670,970
Ensembl chrNW_004624733:40,632,781...40,670,843 		JBrowse link
G Csf2 colony stimulating factor 2 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chrNW_004624733:40,039,127...40,041,294
Ensembl chrNW_004624733:40,039,414...40,041,294 		JBrowse link
G Fnip1 folliculin interacting protein 1 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chrNW_004624733:40,263,760...40,396,183
Ensembl chrNW_004624733:40,263,898...40,393,690 		JBrowse link
G Hint1 histidine triad nucleotide binding protein 1 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chrNW_004624733:40,896,566...40,902,835
Ensembl chrNW_004624733:40,896,588...40,902,828 		JBrowse link
G Lyrm7 LYR motif containing 7 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chrNW_004624733:40,711,143...40,939,867
Ensembl chrNW_004624733:40,868,569...40,890,107 		JBrowse link
G P4ha2 prolyl 4-hydroxylase subunit alpha 2 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:20574985 PMID:28492532 NCBI chrNW_004624733:39,871,156...39,902,266
Ensembl chrNW_004624733:39,871,180...39,903,377 		JBrowse link
G Pdlim4 PDZ and LIM domain 4 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:20574985 PMID:28492532 NCBI chrNW_004624733:39,826,435...39,840,280
Ensembl chrNW_004624733:39,825,025...39,840,361 		JBrowse link
G Rapgef6 Rap guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chrNW_004624733:40,403,340...40,609,104
Ensembl chrNW_004624733:40,402,318...40,609,234 		JBrowse link
G Rnf167 ring finger protein 167 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar NCBI chrNW_004624786:8,797,907...8,802,623
Ensembl chrNW_004624786:8,798,696...8,802,427 		JBrowse link
G Slc22a4 solute carrier family 22 member 4 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:20574985 PMID:28492532 NCBI chrNW_004624733:39,740,026...39,809,265
Ensembl chrNW_004624733:39,698,456...39,808,718 		JBrowse link
G Slc22a5 solute carrier family 22 member 5 ISO ClinVar Annotator: match by term: Carnitine Deficiency, Systemic | ClinVar Annotator: match by term: Carnitine transporter deficiency | ClinVar Annotator: match by term: Renal carnitine transport defect | ClinVar Annotator: match by term: Systemic primary carnitine deficiency disease
ClinVar Annotator: match by term: CARNITINE TRANSPORTER, PLASMA-MEMBRANE, DEFICIENCY OF | ClinVar Annotator: match by term: Carnitine Deficiency, Systemic | ClinVar Annotator: match by term: Carnitine transporter deficiency | ClinVar Annotator: match by term: Renal carnitine transport defect | ClinVar Annotator: match by term: Systemic primary carnitine deficiency disease		 OMIM
ClinVar		 PMID:2199596 PMID:2216472 PMID:2235122 PMID:3215194 PMID:3974805 More... NCBI chrNW_004624733:39,690,958...39,727,503
Ensembl chrNW_004624733:39,698,456...39,808,718 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14208
    Pathological Conditions, Signs and Symptoms 11236
      Pathologic Processes 7054
        Hyperammonemia 54
          CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO 6
          ornithine carbamoyltransferase deficiency 27
          ornithine translocase deficiency 1
          systemic primary carnitine deficiency disease 12
paths to the root