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urea cycle disorder - Ontology Report - Rat Genome Database

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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

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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 chrNW_004624730:72,529,299...72,621,108
Ensembl chrNW_004624730:72,534,329...72,623,263 		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 chrNW_004624730:72,372,773...72,384,077
Ensembl chrNW_004624730:72,376,045...72,384,077 		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 chrNW_004624730:72,337,262...72,343,458
Ensembl chrNW_004624730:72,337,547...72,343,451 		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 chrNW_004624730:72,386,376...72,395,392 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 chrNW_004624730:73,122,977...73,167,713
Ensembl chrNW_004624730:73,152,728...73,153,867 		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 chrNW_004624730:72,326,901...72,328,073
Ensembl chrNW_004624730:72,326,904...72,328,051 		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 chrNW_004624730:72,228,912...72,242,636
Ensembl chrNW_004624730:72,228,189...72,244,332 		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 chrNW_004624730:72,396,437...72,412,260
Ensembl chrNW_004624730:72,396,343...72,413,175 		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 chrNW_004624730:72,301,693...72,336,937
Ensembl chrNW_004624730:72,301,267...72,336,855 		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 chrNW_004624730:72,417,069...72,428,194
Ensembl chrNW_004624730:72,417,856...72,428,093 		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 chrNW_004624730:72,251,840...72,271,724 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 chrNW_004624730:72,242,567...72,251,342
Ensembl chrNW_004624730:72,242,674...72,249,995 		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 chrNW_004624730:72,803,070...72,843,627
Ensembl chrNW_004624730:72,807,780...72,844,190 		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 chrNW_004624730:72,916,601...72,972,204 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 chrNW_004624730:73,264,110...73,298,951 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 chrNW_004624730:72,683,993...72,692,105
Ensembl chrNW_004624730:72,685,794...72,690,561 		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 OMIM
ClinVar		 PMID:6822454 PMID:9187484 PMID:9536098 PMID:10485305 PMID:11170888 More... NCBI chrNW_004624730:60,749,678...60,803,091
Ensembl chrNW_004624730:60,749,896...60,803,235 		JBrowse link
G Mcf2l2 MCF.2 cell line derived transforming sequence-like 2 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chrNW_004624730:73,002,074...73,247,940
Ensembl chrNW_004624730:73,011,191...73,248,537 		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 chrNW_004624730:72,642,828...72,683,820
Ensembl chrNW_004624730:72,642,925...72,683,820 		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 chrNW_004624730:72,221,964...72,228,133
Ensembl chrNW_004624730:72,221,964...72,228,616 		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 chrNW_004624730:72,286,625...72,297,415
Ensembl chrNW_004624730:72,286,324...72,297,465 		JBrowse link
G Thpo thrombopoietin ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chrNW_004624730:72,210,880...72,218,615
Ensembl chrNW_004624730:72,212,423...72,219,485 		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 chrNW_004624730:72,343,400...72,354,625
Ensembl chrNW_004624730:72,343,660...72,354,098 		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 chrNW_004624730:72,693,216...72,781,611
Ensembl chrNW_004624730:72,693,218...72,781,276 		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 chrNW_004624905:525,302...637,951
Ensembl chrNW_004624905:524,880...638,237 		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 OMIM
ClinVar		 PMID:1293382 PMID:7128647 PMID:7601257 PMID:8598650 PMID:9536098 More... NCBI chrNW_004624905:645,782...709,611
Ensembl chrNW_004624905:645,715...712,364 		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 chrNW_004624730:60,749,678...60,803,091
Ensembl chrNW_004624730:60,749,896...60,803,235 		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 chrNW_004624905:645,782...709,611
Ensembl chrNW_004624905:645,715...712,364 		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 chrNW_004624760:5,180,095...5,221,677
Ensembl chrNW_004624760:5,180,095...5,221,732 		JBrowse link
G Slc25a13 solute carrier family 25 member 13 ISO ClinVar Annotator: match by term: Adult-onset citrullinemia type 2 | ClinVar Annotator: match by term: Citrullinemia, type II, adult-onset | ClinVar Annotator: match by term: Late-onset citrullinemia OMIM
ClinVar		 PMID:855835 PMID:8105687 PMID:9536098 PMID:10369257 PMID:11153906 More... NCBI chrNW_004624813:2,851,620...3,019,593
Ensembl chrNW_004624813:2,852,585...2,998,651 		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 ClinVar Annotator: match by term: Argininosuccinate lyase deficiency | ClinVar Annotator: match by term: Argininosuccinic Aciduria OMIM
ClinVar		 PMID:705937 PMID:1705937 PMID:2263616 PMID:9045711 PMID:9256435 More... NCBI chrNW_004624740:8,414,664...8,423,797
Ensembl chrNW_004624740:8,414,733...8,423,777 		JBrowse link
G Crcp CGRP receptor component ISO ClinVar Annotator: match by term: Argininosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004624740:8,431,986...8,470,264
Ensembl chrNW_004624740:8,431,970...8,469,765 		JBrowse link
G Gusb glucuronidase beta ISO ClinVar Annotator: match by term: Argininosuccinic Aciduria ClinVar PMID:19224584 PMID:28492532 NCBI chrNW_004624740:8,390,096...8,401,063
Ensembl chrNW_004624740:8,390,197...8,401,387 		JBrowse link
G Kctd7 potassium channel tetramerization domain containing 7 ISO ClinVar Annotator: match by term: Argininosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004624740:8,588,339...8,609,541
Ensembl chrNW_004624740:8,598,309...8,609,696 		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 chrNW_004624730:5,882,812...5,958,966
Ensembl chrNW_004624730:5,881,637...5,959,126 		JBrowse link
G Rabgef1 RAB guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Argininosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004624740:8,624,231...8,688,747
Ensembl chrNW_004624740:8,624,205...8,690,800 		JBrowse link
G Sbds SBDS ribosome maturation factor ISO ClinVar Annotator: match by term: Argininosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004624740:8,734,547...8,740,634
Ensembl chrNW_004624740:8,734,546...8,740,652 		JBrowse link
G Tmem248 transmembrane protein 248 ISO ClinVar Annotator: match by term: Argininosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004624740:8,696,795...8,725,769
Ensembl chrNW_004624740:8,713,354...8,723,082 		JBrowse link
G Tpst1 tyrosylprotein sulfotransferase 1 ISO ClinVar Annotator: match by term: Argininosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chrNW_004624740:8,479,113...8,587,942
Ensembl chrNW_004624740:8,503,484...8,588,004 		JBrowse link
autosomal recessive osteopetrosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ca2 carbonic anhydrase 2 ISO ClinVar Annotator: match by term: CA2-related condition | ClinVar Annotator: match by term: Osteopetrosis with renal tubular acidosis OMIM
ClinVar		 PMID:1301935 PMID:1542674 PMID:1928091 PMID:4624444 PMID:5041390 More... NCBI chrNW_004624744:6,168,030...6,183,407
Ensembl chrNW_004624744:6,167,606...6,183,538 		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 Abca3 ATP binding cassette subfamily A member 3 ISO ClinVar Annotator: match by term: Congenital hyperammonemia, type I ClinVar PMID:24871971 PMID:25741868 PMID:28492532 PMID:31130284 NCBI chrNW_004624824:85,369...144,053
Ensembl chrNW_004624824:84,430...144,062 		JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO ClinVar Annotator: match by term: Congenital hyperammonemia, type I OMIM
ClinVar		 PMID:8486760 PMID:9536098 PMID:9686343 PMID:9711878 PMID:11388595 More... NCBI chrNW_004624765:5,527,029...5,652,343
Ensembl chrNW_004624765:5,528,112...5,651,415 		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 chrNW_004624760:4,878,811...5,032,719
Ensembl chrNW_004624760:4,878,556...5,031,491 		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 chrNW_004624752:149,248...153,625
Ensembl chrNW_004624752:149,187...153,746 		JBrowse link
G Ass1 argininosuccinate synthase 1 susceptibility ISO 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		 RGD
ClinVar		 PMID:934749 PMID:1943692 PMID:2246255 PMID:2358466 PMID:2615645 More... RGD:1599301 NCBI chrNW_004624760:5,180,095...5,221,677
Ensembl chrNW_004624760:5,180,095...5,221,732 		JBrowse link
G Exosc2 exosome component 2 ISO ClinVar Annotator: match by term: Citrullinemia ClinVar PMID:28492532 NCBI chrNW_004624760:5,036,185...5,044,504
Ensembl chrNW_004624760:5,035,663...5,044,549 		JBrowse link
G Fubp3 far upstream element binding protein 3 ISO ClinVar Annotator: match by term: Citrullinemia ClinVar PMID:28492532 NCBI chrNW_004624760:5,078,698...5,122,905 JBrowse link
G Prdm12 PR/SET domain 12 ISO ClinVar Annotator: match by term: Citrullinemia ClinVar PMID:28492532 NCBI chrNW_004624760:5,048,760...5,063,504
Ensembl chrNW_004624760:5,049,666...5,063,161 		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 chrNW_004624813:2,851,620...3,019,593
Ensembl chrNW_004624813:2,852,585...2,998,651 		JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO RGD PMID:10369256 PMID:10805333 RGD:1599239 RGD:1599240 NCBI chrNW_004624748:1,666,124...1,689,021 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 chrNW_004624753:5,737,720...5,749,313
Ensembl chrNW_004624753:5,737,237...5,752,966 		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 chrNW_004624813:2,851,620...3,019,593
Ensembl chrNW_004624813:2,852,585...2,998,651 		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 chrNW_004624760:5,180,095...5,221,677
Ensembl chrNW_004624760:5,180,095...5,221,732 		JBrowse link
G Pcsk9 proprotein convertase subtilisin/kexin type 9 ISO ClinVar Annotator: match by term: argininosuccinate synthetase deficiency ClinVar PMID:11941481 PMID:15654334 PMID:16424354 PMID:16554528 PMID:16571601 More... NCBI chrNW_004624862:4,873,457...4,895,836
Ensembl chrNW_004624862:4,879,561...4,895,776 		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 chrNW_004624813:2,851,620...3,019,593
Ensembl chrNW_004624813:2,852,585...2,998,651 		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 ClinVar Annotator: match by term: Arginase deficiency OMIM
ClinVar
RGD		 PMID:480013 PMID:624188 PMID:1463019 PMID:1598908 PMID:2365823 More... RGD:1599208 NCBI chrNW_004624753:5,737,720...5,749,313
Ensembl chrNW_004624753:5,737,237...5,752,966 		JBrowse link
G Bmal1 basic helix-loop-helix ARNT like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27056296 NCBI chrNW_004624766:5,295,120...5,391,645
Ensembl chrNW_004624766:5,317,635...5,391,645 		JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Arginase deficiency ClinVar PMID:28492532 NCBI chrNW_004624753:5,918,005...5,983,480
Ensembl chrNW_004624753:5,917,689...5,982,308 		JBrowse link
G Enpp3 ectonucleotide pyrophosphatase/phosphodiesterase 3 ISO ClinVar Annotator: match by term: Arginase deficiency ClinVar PMID:28492532 NCBI chrNW_004624753:5,817,129...5,889,089
Ensembl chrNW_004624753:5,817,235...5,890,469 		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 chrNW_004624753:5,751,782...5,799,305
Ensembl chrNW_004624753:5,751,779...5,799,413 		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 OMIM
ClinVar		 PMID:12594532 PMID:16199547 PMID:23894642 PMID:25741868 PMID:28492532 NCBI chrNW_004624795:875,463...879,283
Ensembl chrNW_004624795:875,750...879,256 		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 OMIM
ClinVar		 PMID:855835 PMID:8105687 PMID:9536098 PMID:10369257 PMID:11153906 More... NCBI chrNW_004624813:2,851,620...3,019,593
Ensembl chrNW_004624813:2,852,585...2,998,651 		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_004624762:14,952,313...14,975,678
Ensembl chrNW_004624762:14,952,002...14,975,900 		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_004624762:15,338,331...15,465,683
Ensembl chrNW_004624762:15,420,596...15,465,873 		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_004624762:19,075,485...19,603,914 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_004624762:14,906,973...14,927,869
Ensembl chrNW_004624762:14,906,980...14,924,250 		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 chrNW_004624762:17,759,625...17,793,434
Ensembl chrNW_004624762:17,757,404...17,793,467 		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_004624762:22,306,962...24,846,427
Ensembl chrNW_004624762:22,746,729...24,847,938 		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_004624762:17,734,738...17,747,418
Ensembl chrNW_004624762:17,734,769...17,747,527 		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_004624762:25,268,398...25,357,165
Ensembl chrNW_004624762:25,270,270...25,357,167 		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_004624762:17,577,088...17,577,662 JBrowse link
G Igfbp3 insulin like growth factor binding protein 3 treatment ISO RGD PMID:16703326 RGD:12743607 NCBI chrNW_004624740:6,878,818...6,886,512
Ensembl chrNW_004624740:6,877,348...6,886,512 		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_004624762:17,916,148...18,033,799
Ensembl chrNW_004624762:17,925,158...18,033,734 		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_004624762:19,674,668...19,720,676 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_004624762:14,832,485...14,903,119
Ensembl chrNW_004624762:14,832,816...14,904,882 		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_004624762:16,678,350...16,680,691
Ensembl chrNW_004624762:16,678,273...16,680,729 		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_004624762:14,929,555...14,930,237
Ensembl chrNW_004624762:14,929,697...14,930,107 		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_004624762:25,759,976...25,769,543
Ensembl chrNW_004624762:25,764,452...25,769,487 		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_004624762:17,038,223...17,104,853
Ensembl chrNW_004624762:17,038,223...17,104,965 		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_004624762:18,273,401...18,379,796
Ensembl chrNW_004624762:18,273,434...18,378,802 		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_004624762:17,135,870...17,199,693 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_004624762:17,240,899...17,347,430
Ensembl chrNW_004624762:17,240,816...17,347,523 		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_004624762:17,401,304...17,659,757
Ensembl chrNW_004624762:17,400,875...17,547,947 		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_004624762:25,107,234...25,177,268 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_004624762:25,427,519...25,448,180
Ensembl chrNW_004624762:25,430,926...25,448,114 		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_004624762:21,100,254...21,129,793
Ensembl chrNW_004624762:21,100,133...21,129,895 		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_004624762:16,767,493...16,911,713
Ensembl chrNW_004624762:16,768,758...16,911,804 		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_004624762:14,403,361...14,527,854
Ensembl chrNW_004624762:14,405,560...14,527,639 		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_004624762:17,856,746...17,915,975
Ensembl chrNW_004624762:17,856,731...17,914,938 		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_004624748:1,666,124...1,689,021 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14231
    Nutritional and Metabolic Diseases 6956
      disease of metabolism 6956
        inherited metabolic disorder 5505
          Metabolic Brain Diseases, Inborn 1267
            urea cycle disorder 80
              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 2
              citrullinemia + 10
              hyperargininemia 5
              ornithine carbamoyltransferase deficiency 27
              ornithine translocase deficiency 1
Path 2
Term Annotations click to browse term
  disease 14231
    disease of anatomical entity 13933
      nervous system disease 12273
        central nervous system disease 10999
          brain disease 10313
            Metabolic Brain Diseases 1386
              Metabolic Brain Diseases, Inborn 1267
                urea cycle disorder 80
                  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 2
                  citrullinemia + 10
                  hyperargininemia 5
                  ornithine carbamoyltransferase deficiency 27
                  ornithine translocase deficiency 1
paths to the root