Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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


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 chr 1:270,531,434...270,586,364
Ensembl chr 1:270,531,589...270,586,364 		JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8486760 PMID:17310273 NCBI chr15:113,210,038...113,339,086
Ensembl chr15:113,150,157...113,339,078 		JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9571255 NCBI chr14:87,968,850...88,005,375
Ensembl chr14:87,968,850...88,005,520 		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 chr12:19,170,398...19,173,968
Ensembl chr12:19,169,961...19,174,747 		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:34,322,398...34,391,711
Ensembl chr  X:34,322,298...34,391,821 		JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO ClinVar Annotator: match by term: Hyperammonaemia ClinVar PMID:25741868 PMID:28492532 NCBI chr13:77,217,481...77,314,779
Ensembl chr13:77,217,428...77,316,568 		JBrowse link
G PRKCQ protein kinase C theta ISO protein:altered localization:neuron RGD PMID:15606904 RGD:1625610 NCBI chr10:64,442,588...64,596,528
Ensembl chr10:64,458,180...64,600,339 		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 chr12:19,190,703...19,208,373 JBrowse link
G SLC25A15 solute carrier family 25 member 15 ISO RGD PMID:10369256 PMID:10805333 RGD:1599239 RGD:1599240 NCBI chr11:15,494,176...15,551,172
Ensembl chr11:15,494,385...15,559,312 		JBrowse link
G TLR5 toll like receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30508503 NCBI chr10:19,387,666...19,410,024
Ensembl chr10:19,387,666...19,410,024 		JBrowse link
G TYMS thymidylate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20714149 NCBI chr 6:105,642,730...105,660,279
Ensembl chr 6:105,642,381...105,660,578 		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 6:1,421,460...1,495,484
Ensembl chr 6:1,421,462...1,495,486 		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 6:1,495,615...1,539,390
Ensembl chr 6:1,506,042...1,538,777 		JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 treatment ISO RGD PMID:29801986 RGD:13628400 NCBI chr15:113,210,038...113,339,086
Ensembl chr15:113,150,157...113,339,078 		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 6:1,677,132...1,767,010 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 6:1,627,054...1,672,328
Ensembl chr 6:1,617,653...1,677,127 		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 6:1,545,940...1,574,298
Ensembl chr 6:1,545,944...1,574,285 		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 6:1,161,514...1,208,406
Ensembl chr 6:1,162,822...1,174,257 		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:36,271,154...36,300,240
Ensembl chr  X:36,271,223...36,300,240 		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:35,768,013...35,891,013
Ensembl chr  X:35,768,017...35,814,833 		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:31,879,143...32,331,543 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 chr  X:36,330,684...36,351,903
Ensembl chr  X:36,328,653...36,351,826 		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:27,028,223...29,650,728
Ensembl chr  X:27,028,231...28,383,840 		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:33,711,993...33,724,596
Ensembl chr  X:33,711,492...33,724,683 		JBrowse link
G EFHC2 EF-hand domain containing 2 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:39,407,390...39,597,537
Ensembl chr  X:39,403,692...39,597,512 		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:26,955,098...26,956,111
Ensembl chr  X:26,955,098...26,955,649 		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:26,470,422...26,558,892 JBrowse link
G GP91-PHOX NADPH oxidase heavy chain subunit ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:10946359 PMID:11793468 PMID:16055928 PMID:16786505 PMID:16969763 More... NCBI chr  X:33,654,656...33,678,346
Ensembl chr  X:33,643,648...33,680,580 		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:33,889,233...33,890,290 JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 treatment ISO RGD PMID:16703326 RGD:12743607 NCBI chr18:50,002,921...50,009,425
Ensembl chr18:50,003,022...50,010,690 		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 chr  X:33,426,731...33,543,506
Ensembl chr  X:33,427,444...33,541,304 		JBrowse link
G LOC100522411 melanoma-associated antigen B16-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:31,592,308...31,597,919 JBrowse link
G LOC100624836 protein FAM47E-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:33,004,811...33,006,091 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:36,354,057...36,424,837
Ensembl chr  X:36,354,061...36,424,715 		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:34,763,360...34,766,160
Ensembl chr  X:34,763,355...34,766,076 		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:36,325,447...36,331,779
Ensembl chr  X:36,325,996...36,326,472 		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:26,117,874...26,122,951
Ensembl chr  X:26,117,874...26,122,951 		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:34,322,398...34,391,711
Ensembl chr  X:34,322,298...34,391,821 		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:33,064,499...33,232,556
Ensembl chr  X:33,091,149...33,232,556 		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:34,238,961...34,522,814
Ensembl chr  X:34,228,124...34,296,589 		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 chr  X:34,075,577...34,198,462
Ensembl chr  X:34,075,579...34,198,467 		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:33,798,296...34,066,127
Ensembl chr  X:33,798,291...34,036,242 		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:26,632,547...26,729,039
Ensembl chr  X:26,632,551...26,729,051 		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:26,363,808...26,384,933
Ensembl chr  X:26,365,027...26,384,760 		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:30,584,044...30,615,233
Ensembl chr  X:30,584,046...30,615,232 		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:34,522,899...34,660,216
Ensembl chr  X:34,522,933...34,660,212 		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:36,736,049...36,888,702
Ensembl chr  X:36,760,865...36,885,250 		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 chr  X:33,544,287...33,602,576
Ensembl chr  X:33,544,731...33,602,574 		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 chr11:15,494,176...15,551,172
Ensembl chr11:15,494,385...15,559,312 		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 chr 2:134,210,915...134,278,860
Ensembl chr 2:134,210,917...134,278,820 		JBrowse link
G CDC42SE2 CDC42 small effector 2 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr 2:133,564,015...133,683,881
Ensembl chr 2:133,638,588...133,683,880 		JBrowse link
G CSF2 colony stimulating factor 2 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr 2:134,354,724...134,357,155
Ensembl chr 2:134,354,724...134,357,155 		JBrowse link
G FNIP1 folliculin interacting protein 1 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr 2:133,958,112...134,093,408
Ensembl chr 2:133,957,553...134,093,413 		JBrowse link
G HINT1 histidine triad nucleotide binding protein 1 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr 2:133,469,765...133,475,813
Ensembl chr 2:133,467,151...133,475,454 		JBrowse link
G LYRM7 LYR motif containing 7 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr 2:133,480,083...133,683,881
Ensembl chr 2:133,480,080...133,514,659 		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 chr 2:134,502,210...134,595,444
Ensembl chr 2:134,502,212...134,595,430 		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 chr 2:134,555,367...134,570,356
Ensembl chr 2:134,555,666...134,570,348 		JBrowse link
G RAPGEF6 Rap guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr 2:133,708,265...133,951,433
Ensembl chr 2:133,708,266...133,951,433 		JBrowse link
G RNF167 ring finger protein 167 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar NCBI chr12:51,966,028...51,970,811
Ensembl chr12:51,966,032...51,970,898 		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 chr 2:134,594,843...134,641,403
Ensembl chr 2:134,595,584...134,639,777 		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 chr 2:134,660,741...134,847,575
Ensembl chr 2:134,660,808...134,686,219 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15390
    Pathological Conditions, Signs and Symptoms 12066
      Pathologic Processes 7606
        Hyperammonemia 58
          CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO 7
          ornithine carbamoyltransferase deficiency 30
          ornithine translocase deficiency 1
          systemic primary carnitine deficiency disease 12
paths to the root