Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.



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 IEP RGD PMID:10353334 RGD:1599267 NCBI chr 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8486760 PMID:17310273 NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9571255 NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957
JBrowse link
G Nags N-acetylglutamate synthase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyperammonemia, type III
CTD
ClinVar
PMID:9877039 PMID:12594532 PMID:12754705 PMID:15714518 PMID:15858972 More... NCBI chr10:87,098,330...87,102,465
Ensembl chr10:87,098,330...87,102,465
JBrowse link
G Otc ornithine transcarbamylase ISO DNA:missense mutations:multiple (human)
ClinVar Annotator: match by term: Hyperammonaemia
ClinVar Annotator: match by term: Hyperammonemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:6825366 PMID:8424807 PMID:8562862 PMID:8581365 PMID:8778603 More... RGD:1600999, RGD:1600998 NCBI chr  X:12,453,834...12,529,954
Ensembl chr  X:12,453,834...12,566,918
JBrowse link
G Prkcq protein kinase C, theta IEP protein:altered localization:neuron RGD PMID:15606904 RGD:1625610 NCBI chr17:67,246,394...67,379,049
Ensembl chr17:67,246,394...67,378,704
JBrowse link
G Pyy peptide YY ISO ClinVar Annotator: match by term: Hyperammonemia, type III ClinVar NCBI chr10:87,061,155...87,062,278
Ensembl chr10:87,061,161...87,061,815
JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO RGD PMID:10805333 PMID:10369256 RGD:1599240, RGD:1599239 NCBI chr16:69,631,581...69,654,869
Ensembl chr16:69,634,414...69,653,010
JBrowse link
G Tlr5 toll-like receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30508503 NCBI chr13:94,634,778...94,658,992
Ensembl chr13:94,634,801...94,657,738
JBrowse link
G Tyms thymidylate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20714149 NCBI chr 9:113,313,454...113,329,551
Ensembl chr 9:113,313,452...113,329,536
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 chr19:50,007,710...50,082,742
Ensembl chr19:50,007,881...50,082,738
JBrowse link
G Ca5a carbonic anhydrase 5A ISO ClinVar Annotator: match by term: Carbonic anhydrase VA deficiency, hyperammonemia due to
ClinVar Annotator: match by term: Carbonic anhydrase va deficiency, hyperammonemia due to
OMIM
ClinVar
PMID:24530203 PMID:25741868 PMID:25834911 PMID:26913920 PMID:28492532 NCBI chr19:49,973,092...50,002,948
Ensembl chr19:49,973,107...50,002,906
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 treatment ISO RGD PMID:29801986 RGD:13628400 NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033
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 chr19:49,793,967...49,855,338
Ensembl chr19:49,793,092...49,855,338
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 chr19:49,860,975...49,894,027 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 chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823
JBrowse link
G Zfp469 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 chr19:50,282,434...50,324,010 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:10,183,983...10,210,948
Ensembl chr  X:10,183,068...10,210,918
JBrowse link
G Bcor BCL6 co-repressor ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:10,609,756...10,729,613
Ensembl chr  X:10,687,732...10,729,613
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:43,264,687...43,616,607
Ensembl chr  X:43,263,490...43,616,852
JBrowse link
G Cybb cytochrome b-245 beta chain ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:10946359 PMID:11793468 PMID:16786505 PMID:18487280 PMID:19138872 More... NCBI chr  X:13,360,583...13,392,517
Ensembl chr  X:13,359,430...13,392,586
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:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207
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:16786505 PMID:18487280 PMID:19138872 More... NCBI chr  X:13,327,933...13,337,139
Ensembl chr  X:13,327,892...13,337,139
JBrowse link
G Fam47a family with sequence similarity 47, member A ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:42,762,231...42,763,887
Ensembl chr  X:42,762,229...42,763,883
JBrowse link
G Fthl17e ferritin, heavy polypeptide-like 17, member E ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:49,595,422...49,596,399
Ensembl chr  X:49,595,718...49,596,266
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:50,162,089...50,238,707
Ensembl chr  X:50,163,123...50,238,631
JBrowse link
G H2ap H2A.P histone ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:10946359 PMID:11793468 PMID:16786505 PMID:18487280 PMID:19138872 More... NCBI chr  X:12,907,962...12,908,516 JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 treatment ISO RGD PMID:16703326 RGD:12743607 NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
JBrowse link
G Lancl3 LanC like 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:13,480,753...13,609,678
Ensembl chr  X:13,480,311...13,609,678
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 chr  X:43,693,205...43,725,664
Ensembl chr  X:43,693,211...43,725,657
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:10,036,749...10,127,910
Ensembl chr  X:10,036,805...10,126,240
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:12,060,993...12,063,318
Ensembl chr  X:12,060,883...12,065,774
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:10,146,274...10,147,145 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:50,756,886...50,761,014
Ensembl chr  X:50,756,886...50,761,011
JBrowse link
G Otc ornithine transcarbamylase IMP
ISO
ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency
ClinVar Annotator: match by term: OTC deficiency
DNA:missense mutations:multiple (human)
DNA:missense mutation:exon:EX4p.R129H (mouse)
CTD Direct Evidence: marker/mechanism|therapeutic
ClinVar Annotator: match by OMIM:311250
ClinVar
CTD
OMIM
RGD
PMID:1353535 PMID:1480464 PMID:1627356 PMID:1671317 PMID:1721894 More... RGD:4144079, RGD:1600999, RGD:1600998, RGD:4144085 NCBI chr  X:12,453,834...12,529,954
Ensembl chr  X:12,453,834...12,566,918
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:42,494,256...42,606,612
Ensembl chr  X:42,494,256...42,606,588
JBrowse link
G RGD1565685 similar to RIKEN cDNA 1810030O07 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:10,128,070...10,150,904
Ensembl chr  X:10,129,657...10,150,900
JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:10946359 PMID:11793468 PMID:16786505 PMID:18487280 PMID:19138872 More... NCBI chr  X:12,566,447...12,628,171
Ensembl chr  X:12,566,645...12,747,882
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:16786505 PMID:18487280 PMID:19138872 More... NCBI chr  X:12,676,984...12,751,296 JBrowse link
G Sytl5 synaptotagmin-like 5 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:10946359 PMID:11793468 PMID:16786505 PMID:18487280 PMID:19138872 More... NCBI chr  X:12,775,529...13,030,134
Ensembl chr  X:12,788,698...13,030,175
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:49,972,414...50,044,658
Ensembl chr  X:49,972,330...50,042,056
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:50,403,962...50,423,141
Ensembl chr  X:50,361,248...50,423,269
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:45,421,405...45,447,900
Ensembl chr  X:45,421,405...45,447,900
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:12,208,783...12,306,160
Ensembl chr  X:12,208,783...12,306,131
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:9,588,825...9,726,993
Ensembl chr  X:9,588,825...9,696,711
JBrowse link
G Xk X-linked Kx blood group ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:10946359 PMID:11793468 PMID:16786505 PMID:18487280 PMID:19138872 More... NCBI chr  X:13,436,412...13,472,830
Ensembl chr  X:13,436,418...13,472,830
JBrowse link
ornithine translocase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrps31 mitochondrial ribosomal protein S31 ISO ClinVar Annotator: match by term: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome ClinVar PMID:10369256 PMID:28492532 NCBI chr16:69,601,349...69,621,609
Ensembl chr16:69,601,349...69,630,654
JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO ClinVar Annotator: match by term: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
ClinVar Annotator: match by OMIM:238970
OMIM
ClinVar
PMID:3407856 PMID:10369256 PMID:10805333 PMID:11355015 PMID:11552031 More... NCBI chr16:69,631,581...69,654,869
Ensembl chr16:69,634,414...69,653,010
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:20574985 PMID:28492532 NCBI chr10:38,439,914...38,501,182
Ensembl chr10:38,440,080...38,498,757
JBrowse link
G Cdc42se2 CDC42 small effector 2 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:20574985 PMID:28492532 NCBI chr10:38,836,549...38,905,056
Ensembl chr10:38,836,555...38,905,059
JBrowse link
G Csf2 colony stimulating factor 2 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:20574985 PMID:28492532 NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
JBrowse link
G Fnip1 folliculin interacting protein 1 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:20574985 PMID:28492532 NCBI chr10:38,567,728...38,650,824 JBrowse link
G Hint1 histidine triad nucleotide binding protein 1 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:20574985 PMID:28492532 NCBI chr10:38,989,516...38,993,259 JBrowse link
G Il3 interleukin 3 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:20574985 PMID:28492532 NCBI chr10:38,405,716...38,408,066
Ensembl chr10:38,405,716...38,408,066
JBrowse link
G Lyrm7 LYR motif containing 7 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:20574985 PMID:28492532 NCBI chr10:38,964,299...38,983,628
Ensembl chr10:38,964,311...38,983,601
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 chr10:38,243,047...38,271,989
Ensembl chr10:38,243,139...38,287,314
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 chr10:38,198,686...38,212,935
Ensembl chr10:38,198,689...38,212,938
JBrowse link
G Rapgef6 Rap guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:20574985 PMID:28492532 NCBI chr10:38,655,854...38,824,227
Ensembl chr10:38,655,867...38,823,211
JBrowse link
G Rnf167 ring finger protein 167 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar NCBI chr10:55,360,603...55,364,927
Ensembl chr10:55,360,543...55,364,927
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 chr10:38,133,333...38,179,932 JBrowse link
G Slc22a5 solute carrier family 22 member 5 ISO DNA:missense mutations:cds:p.S28I, p.Y447C (human)
ClinVar Annotator: match by term: Renal carnitine transport defect
ClinVar Annotator: match by OMIM:212140
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
RGD
PMID:2199596 PMID:2216472 PMID:2235122 PMID:3215194 PMID:3974805 More... RGD:1580611 NCBI chr10:38,008,303...38,035,474
Ensembl chr10:38,008,311...38,035,309
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Pathological Conditions, Signs and Symptoms 10289
      Pathologic Processes 6728
        Hyperammonemia 58
          CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO 7
          ornithine carbamoyltransferase deficiency 29
          ornithine translocase deficiency 2
          systemic primary carnitine deficiency disease 13
paths to the root