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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:urea cycle disorder
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Accession:DOID:9267 term browser browse the term
Definition:An amino acid metabolic disorder that involves a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream. (DO)
Synonyms:exact_synonym: disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia;   disorder of urea cycle metabolism;   inborn urea cycle disorder;   inborn urea cycle disorders;   urea cycle defect;   urea cycle disorders
 primary_id: MESH:D056806
 xref: GARD:7837;   ICD10CM:E72.2;   ICD9CM:270.6;   NCI:C84785


show annotations for term's descendants           Sort by:
3-methylcrotonyl-CoA carboxylase 1 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc5 ATP binding cassette subfamily C member 5 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,473,809...80,567,257
Ensembl chr11:80,473,872...80,567,253 		JBrowse link
G Abcf3 ATP binding cassette subfamily F member 3 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,340,476...80,352,211
Ensembl chr11:80,339,977...80,352,211 		JBrowse link
G Alg3 ALG3, alpha-1,3- mannosyltransferase ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,300,487...80,306,014
Ensembl chr11:80,300,498...80,307,912 		JBrowse link
G Ap2m1 adaptor related protein complex 2 subunit mu 1 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,355,307...80,364,218
Ensembl chr11:80,328,041...80,364,140 		JBrowse link
G B3gnt5 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:81,141,102...81,153,206
Ensembl chr11:81,140,599...81,156,166 		JBrowse link
G Camk2n2 calcium/calmodulin-dependent protein kinase II inhibitor 2 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,289,702...80,290,829 JBrowse link
G Clcn2 chloride voltage-gated channel 2 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,197,741...80,211,657
Ensembl chr11:80,198,153...80,211,657 		JBrowse link
G Dvl3 dishevelled segment polarity protein 3 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,365,446...80,382,641
Ensembl chr11:80,366,117...80,382,462 		JBrowse link
G Ece2 endothelin-converting enzyme 2 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,259,130...80,278,446
Ensembl chr11:80,263,162...80,278,428 		JBrowse link
G Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,394,433...80,404,468
Ensembl chr11:80,394,433...80,404,419 		JBrowse link
G Eif4g1 eukaryotic translation initiation factor 4 gamma 1 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,221,919...80,241,958
Ensembl chr11:80,221,919...80,241,941 		JBrowse link
G Fam131a family with sequence similarity 131, member A ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,211,577...80,221,527
Ensembl chr11:80,211,745...80,221,511 		JBrowse link
G Klhl24 kelch-like family member 24 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,843,621...80,877,649
Ensembl chr11:80,846,755...80,877,636 		JBrowse link
G Klhl6 kelch-like family member 6 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,970,917...81,010,593
Ensembl chr11:80,970,917...81,009,677 		JBrowse link
G Lamp3 lysosomal-associated membrane protein 3 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:81,153,491...81,224,643
Ensembl chr11:81,193,649...81,221,784 		JBrowse link
G Map6d1 MAP6 domain containing 1 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,734,148...80,740,377
Ensembl chr11:80,734,148...80,740,377 		JBrowse link
G Mccc1 methylcrotonyl-CoA carboxylase subunit 1 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 | ClinVar Annotator: match by term: 3-methylcrotonyl-CoA carboxylase 1 deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9187484 PMID:9536098 PMID:10485305 PMID:11170888 PMID:11181649 More... NCBI chr 2:118,799,147...118,851,181
Ensembl chr 2:118,799,150...118,851,222 		JBrowse link
G Mir1224 microRNA 1224 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,306,902...80,306,986
Ensembl chr11:80,306,902...80,306,986 		JBrowse link
G Parl presenilin associated, rhomboid-like ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,594,059...80,620,506
Ensembl chr11:80,593,192...80,620,506 		JBrowse link
G Polr2h RNA polymerase II, I and III subunit H ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,192,017...80,197,468
Ensembl chr11:80,192,032...80,197,515
Ensembl chr10:80,192,032...80,197,515 		JBrowse link
G Psmd2 proteasome 26S subunit ubiquitin receptor, non-ATPase 2 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,248,364...80,258,991
Ensembl chr11:80,248,364...80,259,043 		JBrowse link
G Thpo thrombopoietin ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 Ensembl chr11:80,182,820...80,188,167 JBrowse link
G Vwa5b2 von Willebrand factor A domain containing 5B2 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,306,067...80,323,220
Ensembl chr11:80,306,350...80,323,220 		JBrowse link
G Yeats2 YEATS domain containing 2 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr11:80,743,134...80,829,253
Ensembl chr11:80,743,134...80,829,208 		JBrowse link
3-methylcrotonyl-CoA carboxylase 2 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bdp1 BDP1 general transcription factor IIIB subunit ISO ClinVar Annotator: match by term: 3-methylcrotonyl-CoA carboxylase 2 deficiency ClinVar PMID:28492532 NCBI chr 2:31,378,407...31,470,140
Ensembl chr 2:31,378,924...31,470,119 		JBrowse link
G Mccc2 methylcrotonyl-CoA carboxylase subunit 2 ISO ClinVar Annotator: match by term: 3-methylcrotonyl-CoA carboxylase 2 deficiency | ClinVar Annotator: match by term: Methylcrotonylglycinuria type 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1293382 PMID:7128647 PMID:8598650 PMID:9536098 PMID:9544913 More... NCBI chr 2:31,304,927...31,375,978
Ensembl chr 2:31,304,932...31,375,972 		JBrowse link
3-methylcrotonyl-CoA carboxylase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mccc1 methylcrotonyl-CoA carboxylase subunit 1 ISO ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency ClinVar PMID:9536098 PMID:10485305 PMID:11170888 PMID:11181649 PMID:11406611 More... NCBI chr 2:118,799,147...118,851,181
Ensembl chr 2:118,799,150...118,851,222 		JBrowse link
G Mccc2 methylcrotonyl-CoA carboxylase subunit 2 ISO ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency ClinVar PMID:9536098 PMID:11170888 PMID:11181649 PMID:14680978 PMID:16010683 More... NCBI chr 2:31,304,927...31,375,978
Ensembl chr 2:31,304,932...31,375,972 		JBrowse link
adult-onset type II citrullinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ass1 argininosuccinate synthase 1 ISO ClinVar Annotator: match by term: Citrullinemia, type II, adult-onset ClinVar PMID:25741868 NCBI chr 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903 		JBrowse link
G Slc25a13 solute carrier family 25 member 13 susceptibility ISO DNA:mutations: :multiple
ClinVar Annotator: match by term: Adult-onset citrullinemia type 2 | ClinVar Annotator: match by term: Citrin deficiency | ClinVar Annotator: match by term: Citrullinemia, type II, adult-onset | ClinVar Annotator: match by term: Late-onset citrullinemia
CTD Direct Evidence: marker/mechanism
DNA,protein:mutations,decreased expression:exons,liver:multiple		 ClinVar
CTD
OMIM
RGD		 PMID:855835 PMID:8105687 PMID:9536098 PMID:10369257 PMID:11153906 More... RGD:1599241, RGD:1599242 NCBI chr 4:34,179,224...34,361,912
Ensembl chr 4:34,179,224...34,361,902 		JBrowse link
argininosuccinic aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asl argininosuccinate lyase ISO
ISS		 DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Argininosuccinate lyase deficiency | ClinVar Annotator: match by term: Argininosuccinic Aciduria
OMIM:207900
protein:decreased expression:liver,erythrocyte,fibroblast, amniocyte
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:705937 PMID:1705937 PMID:2263616 PMID:3106853 PMID:9045711 More... RGD:1302509, RGD:13628399 NCBI chr12:26,659,664...26,677,136
Ensembl chr12:26,659,565...26,679,662 		JBrowse link
G Crcp CGRP receptor component ISO ClinVar Annotator: match by term: Argininosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr12:26,623,968...26,659,756
Ensembl chr12:26,623,976...26,768,225 		JBrowse link
G Gusb glucuronidase, beta ISO ClinVar Annotator: match by term: Argininosuccinic Aciduria ClinVar PMID:19224584 PMID:28492532 NCBI chr12:26,701,188...26,714,718
Ensembl chr12:26,697,951...26,726,905 		JBrowse link
G Kctd7 potassium channel tetramerization domain containing 7 ISO ClinVar Annotator: match by term: Argininosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr12:26,520,969...26,532,327
Ensembl chr12:26,523,142...26,532,138 		JBrowse link
G Poc1a POC1 centriolar protein A ISO ClinVar Annotator: match by term: Argininosuccinate lyase deficiency ClinVar PMID:25741868 PMID:28492532 PMID:30569574 PMID:34627339 PMID:35234134 NCBI chr 8:106,922,058...106,991,678
Ensembl chr 8:106,922,978...106,991,089 		JBrowse link
G Rabgef1 RAB guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Argininosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr12:26,459,190...26,503,790
Ensembl chr12:26,460,175...26,503,744 		JBrowse link
G Sbds Sbds, ribosome maturation factor ISO ClinVar Annotator: match by term: Argininosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr12:26,420,410...26,429,650
Ensembl chr12:26,420,414...26,429,649 		JBrowse link
G Tmem248 transmembrane protein 248 ISO ClinVar Annotator: match by term: Argininosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr12:26,430,775...26,457,105
Ensembl chr12:26,432,953...26,457,105 		JBrowse link
G Tpst1 tyrosylprotein sulfotransferase 1 ISO ClinVar Annotator: match by term: Argininosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr12:26,544,536...26,605,706
Ensembl chr12:26,544,536...26,605,704 		JBrowse link
autosomal recessive osteopetrosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Car2 carbonic anhydrase 2 ISO
ISS		 ClinVar Annotator: match by term: Osteopetrosis with renal tubular acidosis
OMIM:259730
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:1301935 PMID:1542674 PMID:1928091 PMID:4624444 PMID:5041390 More... NCBI chr 2:86,741,625...86,756,766
Ensembl chr 2:86,741,626...86,756,818 		JBrowse link
carbamoyl phosphate synthetase I deficiency disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cps1 carbamoyl-phosphate synthase 1 susceptibility ISO
ISS		 CPS I deficiency, OMIM:237300, DNA:splice-site mutation
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital hyperammonemia, type I		 CTD
MouseDO
ClinVar
OMIM
RGD		 PMID:8486760 PMID:9536098 PMID:9686343 PMID:9711878 PMID:11388595 More... RGD:1600715 NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033 		JBrowse link
citrullinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Citrullinemia ClinVar PMID:28492532 NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065 		JBrowse link
G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: Citrullinemia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:28670130 PMID:37480112 NCBI chr 7:120,542,788...120,547,577
Ensembl chr 7:120,543,362...120,548,783 		JBrowse link
G Ass1 argininosuccinate synthase 1 susceptibility ISO
ISS		 ClinVar Annotator: match by term: Citrullinemia | ClinVar Annotator: match by term: Citrullinemia, mild
ClinVar Annotator: match by term: Citrullinemia | ClinVar Annotator: match by term: Citrullinemia, mild | ClinVar Annotator: match by term: Citrullinuria
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
RGD		 PMID:934749 PMID:1943692 PMID:2246255 PMID:2358466 PMID:2615645 More... RGD:1599301 NCBI chr 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903 		JBrowse link
G Exosc2 exosome component 2 ISO ClinVar Annotator: match by term: Citrullinemia ClinVar PMID:28492532 NCBI chr 3:14,962,930...14,973,645
Ensembl chr 3:14,962,917...14,973,575 		JBrowse link
G Fubp3 far upstream element binding protein 3 ISO ClinVar Annotator: match by term: Citrullinemia ClinVar PMID:28492532 NCBI chr 3:14,855,527...14,904,540
Ensembl chr 3:14,855,557...14,904,540 		JBrowse link
G Prdm12 PR/SET domain 12 ISO ClinVar Annotator: match by term: Citrullinemia ClinVar PMID:28492532 NCBI chr 3:14,928,651...14,943,341
Ensembl chr 3:14,928,628...14,943,331 		JBrowse link
G Slc25a13 solute carrier family 25 member 13 ISO ClinVar Annotator: match by term: Citrullinemia ClinVar PMID:855835 PMID:9536098 PMID:10369257 PMID:11153906 PMID:11343052 More... NCBI chr 4:34,179,224...34,361,912
Ensembl chr 4:34,179,224...34,361,902 		JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO RGD PMID:10805333 PMID:10369256 RGD:1599240, RGD:1599239 NCBI chr16:69,631,581...69,654,869
Ensembl chr16:69,634,414...69,653,010 		JBrowse link
Citrullinemia Type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arg1 arginase 1 ISO protein:altered expression:liver RGD PMID:3369364 RGD:13628398 NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422 		JBrowse link
G Slc25a13 solute carrier family 25 member 13 ISO ClinVar Annotator: match by term: Citrullinemia type 2 | ClinVar Annotator: match by term: Citrullinemia type II ClinVar PMID:855835 PMID:8105687 PMID:9536098 PMID:10369257 PMID:11153906 More... NCBI chr 4:34,179,224...34,361,912
Ensembl chr 4:34,179,224...34,361,902 		JBrowse link
classic citrullinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ass1 argininosuccinate synthase 1 ISO ClinVar Annotator: match by term: Citrullinemia 1 | ClinVar Annotator: match by term: Citrullinemia type I OMIM
ClinVar		 PMID:934749 PMID:1943692 PMID:2246255 PMID:2358466 PMID:2615645 More... NCBI chr 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903 		JBrowse link
G Pcsk9 proprotein convertase subtilisin/kexin type 9 ISO ClinVar Annotator: match by term: argininosuccinate synthetase deficiency ClinVar PMID:11941481 PMID:19191301 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 5:121,211,278...121,233,688
Ensembl chr 5:121,211,278...121,233,688 		JBrowse link
G Slc25a13 solute carrier family 25 member 13 ISO ClinVar Annotator: match by term: Citrullinemia 1 | ClinVar Annotator: match by term: Citrullinemia type I ClinVar PMID:10369257 PMID:14680984 PMID:16199547 PMID:23022256 PMID:23053473 More... NCBI chr 4:34,179,224...34,361,912
Ensembl chr 4:34,179,224...34,361,902 		JBrowse link
hyperargininemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arg1 arginase 1 susceptibility ISO
ISS		 ClinVar Annotator: match by term: Arginase deficiency
OMIM:207800
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:480013 PMID:624188 PMID:1463019 PMID:1598908 PMID:2365823 More... RGD:1599208 NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422 		JBrowse link
G Bmal1 basic helix-loop-helix ARNT like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27056296 NCBI chr 1:167,331,756...167,430,235
Ensembl chr 1:167,331,633...167,430,231 		JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Arginase deficiency ClinVar PMID:28492532 NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715 		JBrowse link
G Enpp3 ectonucleotide pyrophosphatase/phosphodiesterase 3 ISO ClinVar Annotator: match by term: Arginase deficiency ClinVar PMID:28492532 NCBI chr 1:20,563,700...20,635,044
Ensembl chr 1:20,563,697...20,635,041 		JBrowse link
G Med23 mediator complex subunit 23 ISO ClinVar Annotator: match by term: Arginase deficiency ClinVar PMID:624188 PMID:1463019 PMID:1598908 PMID:2365823 PMID:7649538 More... NCBI chr 1:20,490,315...20,558,461
Ensembl chr 1:20,490,315...20,537,463 		JBrowse link
N-acetylglutamate synthase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nags N-acetylglutamate synthase ISO ClinVar Annotator: match by term: Hyperammonemia due to N-acetylglutamate synthase deficiency | ClinVar Annotator: match by term: NAG synthetase deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:12594532 PMID:12754705 PMID:16199547 PMID:23894642 PMID:25741868 More... NCBI chr10:87,098,330...87,102,465
Ensembl chr10:87,098,330...87,102,465 		JBrowse link
neonatal-onset type II citrullinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a13 solute carrier family 25 member 13 ISO ClinVar Annotator: match by term: Neonatal intrahepatic cholestasis caused by citrin deficiency | ClinVar Annotator: match by term: Neonatal-onset citrullinemia type 2 | ClinVar Annotator: match by term: Neonatal-onset citrullinemia type II | ClinVar Annotator: match by term: SLC25A13-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:855835 PMID:8105687 PMID:9536098 PMID:10369257 PMID:11153906 More... NCBI chr 4:34,179,224...34,361,912
Ensembl chr 4:34,179,224...34,361,902 		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:10,183,983...10,210,948
Ensembl chr  X:10,183,068...10,210,918 		JBrowse link
G Bcor BCL6 co-repressor ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:10,609,756...10,729,613
Ensembl chr  X:10,687,732...10,729,613 		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:43,264,687...43,616,607
Ensembl chr  X:43,263,490...43,616,852 		JBrowse link
G Cxhxorf38 similar to human chromosome X open reading frame 38 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:10,128,070...10,150,904
Ensembl chr  X:10,129,657...10,150,900 		JBrowse link
G Cybb cytochrome b-245 beta chain ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:10946359 PMID:11793468 PMID:16055928 PMID:16786505 PMID:16969763 More... NCBI chr  X:13,358,101...13,392,570
Ensembl chr  X:13,359,430...13,392,586 		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:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207 		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:13,327,933...13,337,139
Ensembl chr  X:13,327,892...13,337,139 		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:5,360,499...5,564,004
Ensembl chr  X:5,360,617...5,560,970 		JBrowse link
G Fam47a family with sequence similarity 47, 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:42,762,231...42,763,887
Ensembl chr  X:42,762,229...42,763,883 		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:49,595,422...49,596,399
Ensembl chr  X:49,595,718...49,596,266 		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:50,162,089...50,238,707
Ensembl chr  X:50,163,123...50,238,631 		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:12,907,962...12,908,516 JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 treatment ISO RGD PMID:16703326 RGD:12743607 NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083 		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:13,478,499...13,609,934
Ensembl chr  X:13,480,311...13,609,678 		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 chr  X:43,693,205...43,725,664
Ensembl chr  X:43,693,211...43,725,657 		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:10,036,749...10,127,910
Ensembl chr  X:10,036,805...10,126,240 		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:12,060,993...12,063,318
Ensembl chr  X:12,060,883...12,065,774 		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:10,146,274...10,147,145
Ensembl chr  X:10,146,293...10,147,145 		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:50,756,886...50,761,014
Ensembl chr  X:50,756,886...50,761,011 		JBrowse link
G Otc ornithine transcarbamylase IMP
ISO
ISS		 ClinVar Annotator: match by term: OTC deficiency | ClinVar Annotator: match by term: OTC-related condition | ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency
OMIM:311250
CTD Direct Evidence: marker/mechanism|therapeutic
DNA:missense mutation:exon:EX4p.R129H (mouse)
DNA:missense mutations:multiple (human)		 ClinVar
MouseDO
OMIM
CTD
RGD		 PMID:1353535 PMID:1480464 PMID:1627356 PMID:1671317 PMID:1721894 More... RGD:4144079, RGD:4144085, RGD:1600998, RGD:1600999 NCBI chr  X:12,453,834...12,529,954
Ensembl chr  X:12,453,834...12,566,918 		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:42,494,256...42,606,612
Ensembl chr  X:42,494,256...42,606,588 		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:12,566,447...12,628,171
Ensembl chr  X:12,566,645...12,747,882 		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:12,676,984...12,751,296
Ensembl chr  X:12,566,645...12,747,882 		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:12,775,529...13,030,134
Ensembl chr  X:12,788,698...13,030,175 		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:49,972,414...50,044,658
Ensembl chr  X:49,972,330...50,042,056 		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:50,403,962...50,423,141
Ensembl chr  X:50,361,248...50,423,269 		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:45,421,405...45,447,900
Ensembl chr  X:45,421,405...45,447,900 		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:12,208,783...12,306,092
Ensembl chr  X:12,208,783...12,306,131 		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:9,588,825...9,726,993
Ensembl chr  X:9,588,825...9,696,711 		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:13,436,412...13,472,830
Ensembl chr  X:13,436,418...13,472,830 		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 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 chr16:69,631,581...69,654,869
Ensembl chr16:69,634,414...69,653,010 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    Nutritional and Metabolic Diseases 8520
      disease of metabolism 8520
        inherited metabolic disorder 6605
          Metabolic Brain Diseases, Inborn 1380
            urea cycle disorder 82
              3-methylcrotonyl-CoA carboxylase deficiency + 26
              Citrulline Transport Defect 0
              N-acetylglutamate synthase deficiency 1
              argininosuccinic aciduria 9
              autosomal recessive osteopetrosis 3 1
              carbamoyl phosphate synthetase I deficiency disease 1
              citrullinemia + 10
              hyperargininemia 5
              ornithine carbamoyltransferase deficiency 30
              ornithine translocase deficiency 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14334
        central nervous system disease 12604
          brain disease 11833
            Metabolic Brain Diseases 1512
              Metabolic Brain Diseases, Inborn 1380
                urea cycle disorder 82
                  3-methylcrotonyl-CoA carboxylase deficiency + 26
                  Citrulline Transport Defect 0
                  N-acetylglutamate synthase deficiency 1
                  argininosuccinic aciduria 9
                  autosomal recessive osteopetrosis 3 1
                  carbamoyl phosphate synthetase I deficiency disease 1
                  citrullinemia + 10
                  hyperargininemia 5
                  ornithine carbamoyltransferase deficiency 30
                  ornithine translocase deficiency 1
paths to the root