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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 synthetase 1 ISO RGD PMID:10353334 RGD:1599267 NCBI chr 2:31,360,282...31,410,682
Ensembl chr 2:31,360,219...31,410,684 		JBrowse link
G Cps1 carbamoyl-phosphate synthetase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8486760 PMID:17310273 NCBI chr 1:67,151,294...67,270,426
Ensembl chr 1:67,162,185...67,270,418 		JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9571255 NCBI chr14:34,032,684...34,066,990
Ensembl chr14:34,032,684...34,067,222 		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:15050968 PMID:15714518 More... NCBI chr11:102,036,339...102,040,354
Ensembl chr11:102,036,339...102,040,303 		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:10,118,584...10,187,275
Ensembl chr  X:10,118,544...10,187,263 		JBrowse link
G Pccb propionyl Coenzyme A carboxylase, beta polypeptide ISO ClinVar Annotator: match by term: Hyperammonaemia ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:100,864,085...100,916,993
Ensembl chr 9:100,864,085...100,916,951 		JBrowse link
G Prkcq protein kinase C, theta ISO protein:altered localization:neuron RGD PMID:15606904 RGD:1625610 NCBI chr 2:11,176,922...11,306,033
Ensembl chr 2:11,176,919...11,306,033 		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 chr11:101,997,502...101,998,658
Ensembl chr11:101,997,502...101,998,658 		JBrowse link
G Slc25a15 solute carrier family 25 (mitochondrial carrier ornithine transporter), member 15 ISO RGD PMID:10369256 PMID:10805333 RGD:1599239 RGD:1599240 NCBI chr 8:22,865,566...22,888,637
Ensembl chr 8:22,865,567...22,888,613 		JBrowse link
G Tlr5 toll-like receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30508503 NCBI chr 1:182,782,317...182,804,010
Ensembl chr 1:182,782,353...182,804,010 		JBrowse link
G Tyms thymidylate synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20714149 NCBI chr 5:30,243,544...30,279,261
Ensembl chr 5:30,263,200...30,278,615 		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 8:122,674,711...122,755,999
Ensembl chr 8:122,676,489...122,755,997 		JBrowse link
G Car5a carbonic anhydrase 5a, mitochondrial 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 8:122,642,874...122,671,651
Ensembl chr 8:122,642,865...122,671,643 		JBrowse link
G Cps1 carbamoyl-phosphate synthetase 1 treatment IMP RGD PMID:29801986 RGD:13628400 NCBI chr 1:67,151,294...67,270,426
Ensembl chr 1:67,162,185...67,270,418 		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 8:122,457,298...122,517,822
Ensembl chr 8:122,456,362...122,521,015 		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 8:122,523,047...122,556,322
Ensembl chr 8:122,523,052...122,556,308 		JBrowse link
G Slc7a5 solute carrier family 7 (cationic amino acid transporter, y+ system), member 5 ISO ClinVar Annotator: match by term: Carbonic anhydrase VA deficiency, hyperammonemia due to ClinVar PMID:24530203 PMID:26913920 PMID:28492532 NCBI chr 8:122,607,885...122,634,425
Ensembl chr 8:122,607,889...122,634,433 		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 chr 8:122,770,009...122,999,389
Ensembl chr 8:122,985,359...122,999,389 		JBrowse link
ornithine carbamoyltransferase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 1810030O07Rik RIKEN cDNA 1810030O07 gene ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:12,521,118...12,540,175
Ensembl chr  X:12,521,118...12,539,907 		JBrowse link
G Atp6ap2 ATPase, H+ transporting, lysosomal 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:12,453,998...12,483,290
Ensembl chr  X:12,454,040...12,483,288 		JBrowse link
G Bcor BCL6 interacting 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:11,902,976...12,026,769
Ensembl chr  X:11,902,979...12,026,594 		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:78,310,164...78,560,957
Ensembl chr  X:78,310,165...78,560,891 		JBrowse link
G Cybb cytochrome b-245, beta polypeptide ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:10946359 PMID:11793468 PMID:16055928 PMID:16786505 PMID:16969763 More... NCBI chr  X:9,301,493...9,354,005
Ensembl chr  X:9,301,491...9,354,010 		JBrowse link
G Dmd dystrophin, muscular dystrophy ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:81,858,244...84,248,656
Ensembl chr  X:81,992,476...84,249,747 		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:9,520,509...9,529,222
Ensembl chr  X:9,520,506...9,529,242 		JBrowse link
G Efhc2 EF-hand domain (C-terminal) containing 2 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:16,998,288...17,186,291
Ensembl chr  X:16,998,288...17,185,607 		JBrowse link
G Fam47c family with sequence similarity 47, member C ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:77,781,369...77,783,016
Ensembl chr  X:77,781,369...77,783,007 		JBrowse link
G Fthl17a ferritin, heavy polypeptide-like 17, 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:84,293,283...84,313,897
Ensembl chr  X:84,293,285...84,313,894 		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:84,745,543...84,820,425
Ensembl chr  X:84,745,543...84,820,425 		JBrowse link
G Gm4984 predicted pseudogene 4984 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:12,518,492...12,519,064
Ensembl chr  X:12,518,542...12,518,901 		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:9,713,186...9,713,739
Ensembl chr  X:9,713,167...9,713,747 		JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 treatment ISO RGD PMID:16703326 RGD:12743607 NCBI chr11:7,156,086...7,165,498
Ensembl chr11:7,156,086...7,163,923 		JBrowse link
G Lancl3 LanC lantibiotic synthetase component C-like 3 (bacterial) ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:9,066,212...9,134,324
Ensembl chr  X:9,066,141...9,134,324 		JBrowse link
G Mageb16-ps1 MAGE family member B16, pseudogene 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:143,335,754...143,339,235
Ensembl chr  X:143,338,207...143,339,333 		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:12,541,607...12,628,813
Ensembl chr  X:12,541,608...12,628,312 		JBrowse link
G Mid1ip1 Mid1 interacting protein 1 (gastrulation specific G12-like (zebrafish)) ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:10,583,604...10,585,941
Ensembl chr  X:10,581,252...10,585,929 		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:85,235,381...85,239,553
Ensembl chr  X:85,235,370...85,239,553 		JBrowse link
G Otc ornithine transcarbamylase ISO
IAGP		 DNA:missense mutations:multiple (human)
ClinVar Annotator: match by term: OTC deficiency | ClinVar Annotator: match by term: OTC-related condition | ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency
DNA:missense mutation:exon:EX4p.R129H (mouse)
CTD Direct Evidence: marker/mechanism|therapeutic
OMIM:311250		 ClinVar
CTD
OMIM
MouseDO
RGD		 PMID:1353535 PMID:1480464 PMID:1627356 PMID:1671317 PMID:1721894 More... RGD:1600999, RGD:4144085, RGD:4144079, RGD:1600998 NCBI chr  X:10,118,584...10,187,275
Ensembl chr  X:10,118,544...10,187,263 		JBrowse link
G Prrg1 proline rich Gla (G-carboxyglutamic acid) 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:77,493,216...77,627,539
Ensembl chr  X:77,493,219...77,627,502 		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:10,024,455...10,083,034
Ensembl chr  X:9,939,860...10,083,159 		JBrowse link
G Srpx sushi-repeat-containing 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:9,904,216...9,983,879
Ensembl chr  X:9,904,216...9,983,948 		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:9,613,851...9,871,268
Ensembl chr  X:9,751,861...9,860,782 		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:84,617,466...84,678,075
Ensembl chr  X:84,617,628...84,678,075 		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:84,820,445...84,935,105
Ensembl chr  X:84,913,960...84,935,105 		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:80,114,250...80,141,481
Ensembl chr  X:80,114,304...80,141,478 		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:10,351,355...10,462,843
Ensembl chr  X:10,351,397...10,462,844 		JBrowse link
G Usp9x ubiquitin specific peptidase 9, X chromosome ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:12,937,221...13,039,567
Ensembl chr  X:12,937,737...13,039,567 		JBrowse link
G Xk X-linked Kx blood group ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:10946359 PMID:11793468 PMID:16055928 PMID:16786505 PMID:16969763 More... NCBI chr  X:9,139,023...9,179,484
Ensembl chr  X:9,138,995...9,179,489 		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 (mitochondrial carrier ornithine transporter), member 15 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | ClinVar Annotator: match by term: Ornithine translocase deficiency		 OMIM
CTD
ClinVar		 PMID:3407856 PMID:9536098 PMID:10369256 PMID:10805333 PMID:11355015 More... NCBI chr 8:22,865,566...22,888,637
Ensembl chr 8:22,865,567...22,888,613 		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 chr11:54,194,580...54,255,582
Ensembl chr11:54,194,624...54,255,582 		JBrowse link
G Cdc42se2 CDC42 small effector 2 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr11:54,608,241...54,678,549
Ensembl chr11:54,608,282...54,678,501 		JBrowse link
G Csf2 colony stimulating factor 2 (granulocyte-macrophage) ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr11:54,138,096...54,140,725
Ensembl chr11:54,138,097...54,140,493 		JBrowse link
G Fnip1 folliculin interacting protein 1 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr11:54,328,071...54,409,067
Ensembl chr11:54,329,025...54,409,061 		JBrowse link
G Hint1 histidine triad nucleotide binding protein 1 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr11:54,757,209...54,761,332
Ensembl chr11:54,757,209...54,761,327 		JBrowse link
G Il3 interleukin 3 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr11:54,155,911...54,158,105
Ensembl chr11:54,156,129...54,158,103 		JBrowse link
G Lyrm7 LYR motif containing 7 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr11:54,717,692...54,751,738
Ensembl chr11:54,717,692...54,751,742 		JBrowse link
G P4ha2 procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha II polypeptide ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:20574985 PMID:28492532 NCBI chr11:53,991,750...54,022,494
Ensembl chr11:53,990,921...54,022,491 		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 chr11:53,945,754...53,959,814
Ensembl chr11:53,945,754...53,959,840 		JBrowse link
G Rapgef6 Rap guanine nucleotide exchange factor (GEF) 6 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr11:54,413,630...54,590,112
Ensembl chr11:54,413,673...54,590,111 		JBrowse link
G Rnf167 ring finger protein 167 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar NCBI chr11:70,538,056...70,542,247
Ensembl chr11:70,538,061...70,542,247 		JBrowse link
G Slc22a4 solute carrier family 22 (organic cation transporter), member 4 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:20574985 PMID:28492532 NCBI chr11:53,873,941...53,920,866
Ensembl chr11:53,873,949...53,918,916 		JBrowse link
G Slc22a5 solute carrier family 22 (organic cation transporter), member 5 ISO
IAGP		 DNA:missense mutations:cds:p.S28I, p.Y447C (human)
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:212140
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:2199596 PMID:2216472 PMID:2235122 PMID:3215194 PMID:3974805 More... RGD:1580611 NCBI chr11:53,755,368...53,782,609
Ensembl chr11:53,755,368...53,782,486 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16223
    Pathological Conditions, Signs and Symptoms 12630
      Pathologic Processes 7994
        Hyperammonemia 59
          CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO 7
          ornithine carbamoyltransferase deficiency 30
          ornithine translocase deficiency 1
          systemic primary carnitine deficiency disease 13
paths to the root