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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


show annotations for term's descendants           Sort by:
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 chr 9:53,425,228...53,478,007
Ensembl chr 9:53,425,448...53,477,904 		JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8486760 PMID:17310273 NCBI chr37:18,308,164...18,428,487
Ensembl chr37:18,143,986...18,427,697 		JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9571255 NCBI chr 4:34,629,046...34,662,711 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 chr 9:19,344,073...19,349,395
Ensembl chr 9:19,344,902...19,349,207 		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 chr  X:33,130,921...33,200,441
Ensembl chr  X:33,131,040...33,199,595 		JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO ClinVar Annotator: match by term: Hyperammonaemia ClinVar PMID:25741868 PMID:28492532 NCBI chr23:32,689,732...32,782,204
Ensembl chr23:32,687,839...32,836,366 		JBrowse link
G PRKCQ protein kinase C theta ISO protein:altered localization:neuron RGD PMID:15606904 RGD:1625610 NCBI chr 2:29,319,123...29,505,338
Ensembl chr 2:29,318,870...29,505,337 		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 chr 9:19,370,520...19,386,609 JBrowse link
G SLC25A15 solute carrier family 25 member 15 ISO RGD PMID:10369256 PMID:10805333 RGD:1599239 RGD:1599240 NCBI chr25:470,647...494,800
Ensembl chr25:471,777...493,054 		JBrowse link
G TLR5 toll like receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30508503 NCBI chr38:23,700,323...23,705,628
Ensembl chr38:23,702,033...23,705,314 		JBrowse link
G TYMS thymidylate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20714149 NCBI chr 7:67,487,927...67,497,747
Ensembl chr 7:67,487,927...67,497,747 		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 chr 5:65,151,863...65,256,782
Ensembl chr 5:65,152,247...65,256,667 		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 chr 5:65,269,855...65,297,593
Ensembl chr 5:65,269,635...65,296,777 		JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 treatment ISO RGD PMID:29801986 RGD:13628400 NCBI chr37:18,308,164...18,428,487
Ensembl chr37:18,143,986...18,427,697 		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 chr 5:65,445,329...65,530,288
Ensembl chr 5:65,451,050...65,530,294 		JBrowse link
G KLHDC4 kelch domain containing 4 ISO ClinVar Annotator: match by term: Carbonic anhydrase VA deficiency, hyperammonemia due to ClinVar PMID:24530203 PMID:26913920 PMID:28492532 NCBI chr 5:65,387,373...65,442,333
Ensembl chr 5:65,387,374...65,441,645 		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 chr 5:65,313,105...65,343,858
Ensembl chr 5:65,313,105...65,343,858 		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 chr 5:64,887,534...64,903,553 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 chr  X:35,050,588...35,073,633
Ensembl chr  X:35,050,606...35,073,067 		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 chr  X:34,621,314...34,735,502
Ensembl chr  X:34,621,886...34,645,766 		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 chr  X:30,880,335...31,390,675 JBrowse link
G CXHXorf38 chromosome X CXorf38 homolog ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:35,101,755...35,121,453
Ensembl chr  X:35,106,819...35,121,385 		JBrowse link
G CYBB cytochrome b-245 beta chain ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:10946359 PMID:11793468 PMID:16055928 PMID:16786505 PMID:16969763 More... NCBI chr  X:32,533,365...32,568,149
Ensembl chr  X:32,533,320...32,568,217 		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 chr  X:26,290,903...28,444,635
Ensembl chr  X:26,290,910...28,333,576 		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 chr  X:32,603,881...32,611,213
Ensembl chr  X:32,603,945...32,611,542 		JBrowse link
G EFHC2 EF-hand domain containing 2 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:38,133,964...38,297,285
Ensembl chr  X:38,134,891...38,329,080 		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 chr  X:25,748,060...25,834,462 JBrowse link
G H2AP H2A.P histone ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:10946359 PMID:11793468 PMID:16055928 PMID:16786505 PMID:16969763 More... NCBI chr  X:32,744,935...32,745,485 JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 treatment ISO RGD PMID:16703326 RGD:12743607 NCBI chr16:1,021,855...1,027,604
Ensembl chr16:1,021,972...1,026,392 		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 chr  X:32,349,007...32,452,130
Ensembl chr  X:32,349,269...32,443,254 		JBrowse link
G LOC100856762 melanoma-associated antigen B16-like ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:30,061,692...30,064,909 JBrowse link
G LOC491820 family with sequence similarity 47, member E pseudogene ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:31,903,084...31,904,488 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 chr  X:35,125,270...35,191,260
Ensembl chr  X:35,125,774...35,191,122 		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 chr  X:33,548,210...33,550,550
Ensembl chr  X:33,549,021...33,549,572 		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 chr  X:35,096,805...35,098,017 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 chr  X:25,396,527...25,401,587
Ensembl chr  X:25,396,527...25,401,715 		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 chr  X:33,130,921...33,200,441
Ensembl chr  X:33,131,040...33,199,595 		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 chr  X:31,856,586...32,141,855
Ensembl chr  X:31,870,092...32,138,147 		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 chr  X:33,056,371...33,105,036
Ensembl chr  X:32,745,020...33,330,841 		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 chr  X:32,905,380...33,017,642
Ensembl chr  X:32,745,020...33,330,841 		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 chr  X:32,652,389...32,886,793
Ensembl chr  X:32,651,968...32,879,525 		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 chr  X:25,950,071...26,039,180
Ensembl chr  X:25,954,145...26,008,169 		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 chr  X:25,664,361...25,679,044 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 chr  X:29,675,386...29,705,941
Ensembl chr  X:29,675,387...29,705,941 		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 chr  X:33,336,821...33,465,097
Ensembl chr  X:33,336,846...33,464,163 		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 chr  X:35,522,873...35,676,086 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 chr  X:32,453,404...32,498,145
Ensembl chr  X:32,453,570...32,495,110 		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 chr25:470,647...494,800
Ensembl chr25:471,777...493,054 		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 chr11:20,226,877...20,284,919
Ensembl chr11:20,227,268...20,285,631 		JBrowse link
G CDC42SE2 CDC42 small effector 2 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr11:19,641,815...19,757,867
Ensembl chr11:19,641,901...19,756,814 		JBrowse link
G CSF2 colony stimulating factor 2 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr11:20,342,880...20,346,959
Ensembl chr11:20,344,648...20,346,959 		JBrowse link
G FNIP1 folliculin interacting protein 1 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr11:19,979,294...20,134,341
Ensembl chr11:19,979,163...20,134,229 		JBrowse link
G HINT1 histidine triad nucleotide binding protein 1 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr11:19,551,057...19,555,390 JBrowse link
G IL3 interleukin 3 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr11:20,330,480...20,332,668
Ensembl chr11:20,330,480...20,332,668 		JBrowse link
G LYRM7 LYR motif containing 7 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr11:19,560,143...19,585,350
Ensembl chr11:19,560,250...19,584,881 		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 chr11:20,514,982...20,548,261
Ensembl chr11:20,514,978...20,549,541 		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 chr11:20,570,839...20,587,185
Ensembl chr11:20,570,833...20,585,594 		JBrowse link
G RAPGEF6 Rap guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr11:19,775,874...19,973,784 JBrowse link
G RNF167 ring finger protein 167 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar NCBI chr 5:31,673,540...31,676,705
Ensembl chr 5:31,674,284...31,676,441 		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 chr11:20,599,281...20,643,893 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 chr11:20,659,023...20,686,359
Ensembl chr11:20,598,888...20,683,087 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15721
    Pathological Conditions, Signs and Symptoms 12300
      Pathologic Processes 7749
        Hyperammonemia 58
          CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO 7
          ornithine carbamoyltransferase deficiency 29
          ornithine translocase deficiency 1
          systemic primary carnitine deficiency disease 13
paths to the root