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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 chr12:7,643,484...7,701,334 JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8486760 PMID:17310273 NCBI chr10:96,267,890...96,392,393
Ensembl chr10:96,267,889...96,392,206 		JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9571255 NCBI chr 9:44,653,044...44,690,142
Ensembl chr 9:44,653,289...44,688,954 		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 chr16:62,390,001...62,395,162
Ensembl chr16:62,390,468...62,394,453 		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:35,494,334...35,570,923
Ensembl chr  X:35,494,287...35,570,845 		JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO ClinVar Annotator: match by term: Hyperammonaemia ClinVar PMID:25741868 PMID:28492532 NCBI chr15:54,110,014...54,198,405
Ensembl chr15:54,108,389...54,198,329 		JBrowse link
G PRKCQ protein kinase C theta ISO protein:altered localization:neuron RGD PMID:15606904 RGD:1625610 NCBI chr 9:6,532,438...6,675,708
Ensembl chr 9:6,532,319...6,621,487 		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 chr16:62,405,505...62,441,054
Ensembl chr16:62,439,813...62,441,031 		JBrowse link
G SLC25A15 solute carrier family 25 member 15 ISO RGD PMID:10369256 PMID:10805333 RGD:1599239 RGD:1599240 NCBI chr 3:19,140,103...19,161,281
Ensembl chr 3:19,140,668...19,160,773 		JBrowse link
G TLR5 toll like receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30508503 NCBI chr25:6,418,895...6,440,433
Ensembl chr25:6,437,638...6,440,211 		JBrowse link
G TYMS thymidylate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20714149 NCBI chr18:60,030,640...60,043,297
Ensembl chr18:60,030,658...60,041,856 		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 5:73,341,241...73,466,636
Ensembl chr 5:73,341,729...73,466,949 		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 5:73,284,536...73,333,629 JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 treatment ISO RGD PMID:29801986 RGD:13628400 NCBI chr10:96,267,890...96,392,393
Ensembl chr10:96,267,889...96,392,206 		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 5:72,972,373...73,095,710
Ensembl chr 5:72,972,361...73,094,231 		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 5:73,104,421...73,160,058
Ensembl chr 5:73,104,980...73,160,041 		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 5:73,229,953...73,269,801
Ensembl chr 5:73,229,951...73,269,754 		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 5:73,762,456...73,820,262 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:37,742,550...37,769,022
Ensembl chr  X:37,742,545...37,769,062 		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:37,191,242...37,319,966
Ensembl chr  X:37,192,874...37,319,782 		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:34,482,869...34,908,680 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 chr  X:37,788,826...37,809,922
Ensembl chr  X:37,788,702...37,809,007 		JBrowse link
G CYBB 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...
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:29,543,003...32,218,011 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...
G EFHC2 EF-hand domain containing 2 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:41,315,664...41,513,778
Ensembl chr  X:41,317,034...41,513,669 		JBrowse link
G FTHL17 ferritin heavy chain like 17 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:29,502,329...29,503,211
Ensembl chr  X:29,502,489...29,503,040 		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:29,043,390...29,119,516
Ensembl chr  X:29,043,571...29,118,646 		JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 treatment ISO RGD PMID:16703326 RGD:12743607 NCBI chr21:12,905,309...12,914,199
Ensembl chr21:12,905,280...12,914,205 		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...
G LOC103231784 protein FAM47B ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:33,493,273...33,495,745
Ensembl chr  X:33,493,480...33,495,594 		JBrowse link
G LOC103247462 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 LOC103247710 protein FAM47B ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 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 chr  X:37,810,996...37,898,114
Ensembl chr  X:37,810,710...37,897,929 		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:35,943,161...35,947,173
Ensembl chr  X:35,945,581...35,946,132 		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:37,784,116...37,786,156 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:28,707,698...28,713,158
Ensembl chr  X:28,707,699...28,712,708 		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:35,494,334...35,570,923
Ensembl chr  X:35,494,287...35,570,845 		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...
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 9:30,008,681...30,033,475 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...
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...
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:29,256,176...29,318,129
Ensembl chr  X:29,256,104...29,288,960 		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:28,953,805...28,973,055
Ensembl chr  X:28,954,266...28,955,171 		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:33,172,996...33,203,711
Ensembl chr  X:33,172,990...33,203,678 		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:35,711,603...35,829,385
Ensembl chr  X:35,711,601...35,829,681 		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:38,255,414...38,402,855
Ensembl chr  X:38,256,008...38,403,323
Ensembl chr  Y:38,256,008...38,403,323 		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...
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 chr 3:19,140,103...19,161,281
Ensembl chr 3:19,140,668...19,160,773 		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 chr23:34,787,097...34,846,387
Ensembl chr23:34,787,432...34,829,042 		JBrowse link
G CDC42SE2 CDC42 small effector 2 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr23:34,123,376...34,238,241
Ensembl chr23:34,123,409...34,238,280 		JBrowse link
G CSF2 colony stimulating factor 2 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr23:34,906,987...34,911,252
Ensembl chr23:34,908,911...34,911,140 		JBrowse link
G FNIP1 folliculin interacting protein 1 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr23:34,443,171...34,637,797
Ensembl chr23:34,480,901...34,637,662 		JBrowse link
G HINT1 histidine triad nucleotide binding protein 1 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr23:34,019,009...34,025,006
Ensembl chr23:34,014,501...34,025,323 		JBrowse link
G IL3 interleukin 3 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr23:34,894,630...34,899,105 JBrowse link
G LYRM7 LYR motif containing 7 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr23:34,030,526...34,060,030
Ensembl chr23:34,031,308...34,058,783 		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 chr23:35,022,675...35,058,128
Ensembl chr23:35,020,535...35,058,009 		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 chr23:35,087,966...35,102,703
Ensembl chr23:35,088,001...35,105,018 		JBrowse link
G RAPGEF6 Rap guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr23:34,266,842...34,474,439
Ensembl chr23:34,266,368...34,474,432 		JBrowse link
G RNF167 ring finger protein 167 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar NCBI chr16:4,421,744...4,426,433
Ensembl chr16:4,421,744...4,428,576 		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 chr23:35,123,442...35,173,254
Ensembl chr23:35,124,433...35,173,264 		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 chr23:35,197,909...35,224,466
Ensembl chr23:35,197,985...35,223,137 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15388
    Pathological Conditions, Signs and Symptoms 12046
      Pathologic Processes 7556
        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