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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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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 chrNW_004955513:443,372...485,190
Ensembl chrNW_004955513:445,462...485,190 		JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8486760 PMID:17310273 NCBI chrNW_004955457:4,848,116...4,961,384
Ensembl chrNW_004955457:4,844,152...4,961,246 		JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9571255 NCBI chrNW_004955510:5,987,811...6,021,001 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_004955451:17,182,392...17,186,187
Ensembl chrNW_004955451:17,182,379...17,184,894 		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_004955601:481,524...543,176
Ensembl chrNW_004955601:481,480...543,176 		JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO ClinVar Annotator: match by term: Hyperammonaemia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955501:2,474,330...2,563,107
Ensembl chrNW_004955501:2,474,330...2,563,837 		JBrowse link
G Prkcq protein kinase C theta ISO protein:altered localization:neuron RGD PMID:15606904 RGD:1625610 NCBI chrNW_004955421:23,072,607...23,151,591
Ensembl chrNW_004955421:23,070,955...23,175,699 		JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO RGD PMID:10369256 PMID:10805333 RGD:1599239 RGD:1599240 NCBI chrNW_004955431:5,673,207...5,691,615
Ensembl chrNW_004955431:5,672,701...5,694,197 		JBrowse link
G Tlr5 toll like receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30508503 NCBI chrNW_004955520:1,544,840...1,562,081
Ensembl chrNW_004955520:1,556,523...1,559,093 		JBrowse link
G Tyms thymidylate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20714149 NCBI chrNW_004955402:9,295,862...9,304,952
Ensembl chrNW_004955402:9,296,321...9,306,631 		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_004955541:2,169,303...2,256,779
Ensembl chrNW_004955541:2,169,303...2,256,779 		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_004955541:2,141,450...2,159,955
Ensembl chrNW_004955541:2,139,920...2,160,597 		JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 treatment ISO RGD PMID:29801986 RGD:13628400 NCBI chrNW_004955457:4,848,116...4,961,384
Ensembl chrNW_004955457:4,844,152...4,961,246 		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_004955541:1,969,197...2,020,868
Ensembl chrNW_004955541:1,969,194...2,017,588 		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 chrNW_004955541:2,026,554...2,065,627
Ensembl chrNW_004955541:2,026,771...2,065,462 		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_004955541:2,103,437...2,129,668
Ensembl chrNW_004955541:2,103,384...2,130,310 		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_004955541:2,404,549...2,438,183 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_004955565:2,006,154...2,029,921 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_004955566:1,412,540...1,510,339
Ensembl chrNW_004955566:1,412,540...1,457,329 		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_004955565:1,963,195...1,983,171
Ensembl chrNW_004955565:1,963,196...1,983,171 		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_004955535:1,283,084...3,297,015
Ensembl chrNW_004955535:1,283,523...3,299,542 		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_004955587:828,730...838,614
Ensembl chrNW_004955587:827,278...838,869 		JBrowse link
G Efhc2 EF-hand domain containing 2 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955516:3,867,542...4,036,049
Ensembl chrNW_004955516:3,867,535...4,036,293 		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_004955531:106,761...183,347 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_004955601:38,906...39,259 JBrowse link
G Igfbp3 insulin like growth factor binding protein 3 treatment ISO RGD PMID:16703326 RGD:12743607 NCBI chrNW_004955456:6,795,560...6,802,147
Ensembl chrNW_004955456:6,795,604...6,800,845 		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_004955587:556,105...658,735
Ensembl chrNW_004955587:556,105...658,735 		JBrowse link
G LOC102012042 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_004955587:781,533...818,149
Ensembl chrNW_004955587:781,388...819,912 		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_004955499:8,159,691...8,173,930 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_004955565:1,888,442...1,959,141
Ensembl chrNW_004955565:1,888,443...1,959,141 		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_004955566:287,578...289,803
Ensembl chrNW_004955566:287,578...289,803 		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_004955565:1,981,707...1,986,643 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_004955531:567,491...572,329
Ensembl chrNW_004955531:567,173...572,331 		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_004955601:481,524...543,176
Ensembl chrNW_004955601:481,480...543,176 		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_004955587:289,906...388,534
Ensembl chrNW_004955587:287,845...388,557 		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_004955601:398,772...453,271 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_004955601:286,092...364,235
Ensembl chrNW_004955601:286,069...364,235 		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_004955601:76,647...210,198
Ensembl chrNW_004955601:76,647...210,208 		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_004955535:3,547,556...3,612,705
Ensembl chrNW_004955535:3,585,243...3,612,790 		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_004955531:207,614...293,127
Ensembl chrNW_004955531:267,216...293,127 		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_004955571:1,192,213...1,222,057
Ensembl chrNW_004955571:1,191,700...1,222,309 		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_004955566:75,576...203,512
Ensembl chrNW_004955566:75,576...206,827 		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_004955565:1,479,040...1,602,070
Ensembl chrNW_004955565:1,479,040...1,602,070 		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_004955587:668,871...725,829
Ensembl chrNW_004955587:668,070...728,959 		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_004955431:5,673,207...5,691,615
Ensembl chrNW_004955431:5,672,701...5,694,197 		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_004955408:3,336,214...3,391,117
Ensembl chrNW_004955408:3,333,392...3,392,141 		JBrowse link
G Cdc42se2 CDC42 small effector 2 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chrNW_004955408:2,780,126...2,881,800
Ensembl chrNW_004955408:2,844,135...2,881,800 		JBrowse link
G Csf2 colony stimulating factor 2 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chrNW_004955408:3,452,009...3,454,255
Ensembl chrNW_004955408:3,451,965...3,454,312 		JBrowse link
G Fnip1 folliculin interacting protein 1 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chrNW_004955408:3,117,258...3,238,223
Ensembl chrNW_004955408:3,117,277...3,238,223 		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_004955408:2,673,950...2,678,528
Ensembl chrNW_004955408:2,674,109...2,678,528 		JBrowse link
G Lyrm7 LYR motif containing 7 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chrNW_004955408:2,684,390...2,707,400
Ensembl chrNW_004955408:2,684,060...2,707,400 		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_004955408:3,574,860...3,607,015
Ensembl chrNW_004955408:3,574,860...3,607,015 		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_004955408:3,638,264...3,647,792
Ensembl chrNW_004955408:3,638,264...3,646,600 		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_004955408:2,902,530...3,109,273
Ensembl chrNW_004955408:2,902,530...3,109,273 		JBrowse link
G Rnf167 ring finger protein 167 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar NCBI chrNW_004955467:10,352,650...10,357,214
Ensembl chrNW_004955467:10,353,291...10,357,021 		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_004955408:3,671,772...3,737,946
Ensembl chrNW_004955408:3,671,772...3,737,612 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14316
    Pathological Conditions, Signs and Symptoms 11309
      Pathologic Processes 7123
        Hyperammonemia 53
          CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO 7
          ornithine carbamoyltransferase deficiency 27
          ornithine translocase deficiency 1
          systemic primary carnitine deficiency disease 11
paths to the root