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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_004936487:17,482,307...17,527,407
Ensembl chrNW_004936487:17,486,826...17,527,435 		JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8486760 PMID:17310273 NCBI chrNW_004936586:5,739,038...5,850,317
Ensembl chrNW_004936586:5,739,337...5,850,312 		JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9571255 NCBI chrNW_004936601:5,415,857...5,435,964 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_004936541:501,981...507,994
Ensembl chrNW_004936541:502,034...506,496 		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_004936502:5,234,253...5,291,891
Ensembl chrNW_004936502:5,234,253...5,291,891 		JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO ClinVar Annotator: match by term: Hyperammonaemia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936529:9,106,525...9,166,311
Ensembl chrNW_004936529:9,106,496...9,176,394 		JBrowse link
G Prkcq protein kinase C theta ISO protein:altered localization:neuron RGD PMID:15606904 RGD:1625610 NCBI chrNW_004936484:8,048,239...8,166,058
Ensembl chrNW_004936484:8,048,132...8,167,636 		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_004936541:470,806...471,518
Ensembl chrNW_004936541:470,966...471,518 		JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO RGD PMID:10369256 PMID:10805333 RGD:1599239 RGD:1599240 NCBI chrNW_004936565:5,113,625...5,133,318
Ensembl chrNW_004936565:5,115,600...5,133,345 		JBrowse link
G Tlr5 toll like receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30508503 NCBI chrNW_004936526:383,490...387,007
Ensembl chrNW_004936526:383,418...401,552 		JBrowse link
G Tyms thymidylate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20714149 NCBI chrNW_004936550:33,797...42,233
Ensembl chrNW_004936550:34,048...41,840 		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_004936641:1,386,592...1,472,750
Ensembl chrNW_004936641:1,387,102...1,472,803 		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_004936641:1,478,285...1,495,490
Ensembl chrNW_004936641:1,480,325...1,495,490 		JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 treatment ISO RGD PMID:29801986 RGD:13628400 NCBI chrNW_004936586:5,739,038...5,850,317
Ensembl chrNW_004936586:5,739,337...5,850,312 		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_004936641:1,619,640...1,668,480
Ensembl chrNW_004936641:1,620,652...1,668,486 		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_004936641:1,572,814...1,613,454
Ensembl chrNW_004936641:1,572,785...1,614,534 		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_004936641:1,513,110...1,538,955 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_004936641:1,193,085...1,205,283 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_004936502:7,206,226...7,232,798
Ensembl chrNW_004936502:7,206,172...7,233,912 		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_004936502:6,764,043...6,812,194
Ensembl chrNW_004936502:6,764,907...6,792,916 		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_004936502:3,254,001...3,630,408 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 chrNW_004936502:7,260,094...7,278,416
Ensembl chrNW_004936502:7,259,928...7,278,725 		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_004936553:7,157,526...7,943,703 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_004936502:4,690,810...4,701,615
Ensembl chrNW_004936502:4,690,776...4,701,750 		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_004936502:10,279,094...10,456,994
Ensembl chrNW_004936502:10,278,816...10,457,086 		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_004936553:6,707,148...6,787,245 JBrowse link
G Igfbp3 insulin like growth factor binding protein 3 treatment ISO RGD PMID:16703326 RGD:12743607 NCBI chrNW_004936478:20,511,490...20,518,251
Ensembl chrNW_004936478:20,510,137...20,518,306 		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_004936502:4,419,279...4,522,025
Ensembl chrNW_004936502:4,419,474...4,520,795 		JBrowse link
G LOC101958683 ferritin heavy chain ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chrNW_004936553:7,117,118...7,117,669 JBrowse link
G LOC101966992 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_004936502:4,631,750...4,676,686
Ensembl chrNW_004936502:4,635,149...4,676,904 		JBrowse link
G LOC120885883 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...
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_004936502:7,280,606...7,350,750
Ensembl chrNW_004936502:7,280,534...7,350,435 		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_004936502:5,634,319...5,638,869
Ensembl chrNW_004936502:5,636,564...5,638,869 		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_004936502:7,256,149...7,256,553
Ensembl chrNW_004936502:7,256,149...7,256,553 		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_004936553:6,436,371...6,440,141
Ensembl chrNW_004936553:6,436,371...6,440,141 		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_004936502:5,234,253...5,291,891
Ensembl chrNW_004936502:5,234,253...5,291,891 		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_004936502:4,189,283...4,288,089
Ensembl chrNW_004936502:4,189,254...4,291,140 		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_004936502:5,163,164...5,212,940 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_004936502:5,010,692...5,107,221
Ensembl chrNW_004936502:5,010,682...5,107,254 		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_004936502:4,873,750...4,987,742
Ensembl chrNW_004936502:4,750,233...4,987,887 		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_004936553:6,860,435...6,917,796
Ensembl chrNW_004936553:6,860,261...6,885,475 		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_004936553:6,628,131...6,629,027
Ensembl chrNW_004936553:6,628,131...6,629,027 		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_004936502:1,990,524...2,018,707
Ensembl chrNW_004936502:1,993,749...2,018,204 		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_004936502:5,416,454...5,538,870
Ensembl chrNW_004936502:5,416,454...5,538,905 		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_004936502:7,649,808...7,732,731
Ensembl chrNW_004936502:7,649,842...7,735,382 		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_004936502:4,532,100...4,584,931
Ensembl chrNW_004936502:4,532,100...4,587,439 		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_004936565:5,113,625...5,133,318
Ensembl chrNW_004936565:5,115,600...5,133,345 		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_004936647:3,153,586...3,208,935
Ensembl chrNW_004936647:3,153,485...3,213,582 		JBrowse link
G Cdc42se2 CDC42 small effector 2 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chrNW_004936647:3,669,141...3,734,515
Ensembl chrNW_004936647:3,669,209...3,734,491 		JBrowse link
G Csf2 colony stimulating factor 2 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chrNW_004936647:3,081,896...3,083,864
Ensembl chrNW_004936647:3,081,896...3,083,864 		JBrowse link
G Fnip1 folliculin interacting protein 1 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chrNW_004936647:3,329,097...3,428,170
Ensembl chrNW_004936647:3,329,103...3,428,242 		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_004936647:3,843,544...3,849,428 JBrowse link
G Il3 interleukin 3 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chrNW_004936647:3,102,922...3,104,758 JBrowse link
G LOC101975630 solute carrier family 22 member 4 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:20574985 PMID:28492532 NCBI chrNW_004936647:2,825,814...2,874,786
Ensembl chrNW_004936647:2,825,814...2,874,774 		JBrowse link
G Lyrm7 LYR motif containing 7 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chrNW_004936647:3,812,284...3,837,754
Ensembl chrNW_004936647:3,812,284...3,837,732 		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_004936647:2,930,748...2,963,168
Ensembl chrNW_004936647:2,930,494...2,964,550 		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_004936647:2,891,025...2,905,197
Ensembl chrNW_004936647:2,890,510...2,905,203 		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_004936647:3,434,409...3,647,116
Ensembl chrNW_004936647:3,434,577...3,647,456 		JBrowse link
G Rnf167 ring finger protein 167 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar NCBI chrNW_004936677:2,766,724...2,771,111
Ensembl chrNW_004936677:2,766,907...2,770,225 		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_004936647:2,774,063...2,798,585
Ensembl chrNW_004936647:2,773,768...2,798,511 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14615
    Pathological Conditions, Signs and Symptoms 11544
      Pathologic Processes 7249
        Hyperammonemia 57
          CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO 7
          ornithine carbamoyltransferase deficiency 28
          ornithine translocase deficiency 1
          systemic primary carnitine deficiency disease 13
paths to the root