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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:Rare congenital metabolism disorders of the urea cycle. The disorders are due to mutations that result in complete (neonatal onset) or partial (childhood or adult onset) inactivity of an enzyme, involved in the urea cycle. Neonatal onset results in clinical features that include irritability, vomiting, lethargy, seizures, NEONATAL HYPOTONIA; RESPIRATORY ALKALOSIS; HYPERAMMONEMIA; coma, and death. Survivors of the neonatal onset and childhood/adult onset disorders share common risks for ENCEPHALOPATHIES, METABOLIC, INBORN; and RESPIRATORY ALKALOSIS due to HYPERAMMONEMIA.
Synonyms:exact_synonym: Inborn Urea Cycle Disorders;   disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia;   disorder of urea cycle metabolism;   inborn urea cycle disorder;   urea cycle defect;   urea cycle disorders
 primary_id: MESH:D056806
 alt_id: RDO:0000777
 xref: GARD:7837;   ICD10CM:E72.2;   ICD9CM:270.6;   NCI:C84785
For additional species annotation, visit the Alliance of Genome Resources.


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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 Mccc1 methylcrotonyl-CoA carboxylase subunit 1 ISO ClinVar Annotator: match by term: 3 Methylcrotonyl-CoA carboxylase 1 deficiency
ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency
ClinVar Annotator: match by term: 3-MCC Deficiency
ClinVar Annotator: match by OMIM:210200
OMIM
ClinVar
PMID:9187484 PMID:9536098 PMID:10485305 PMID:11170888 PMID:11181649 PMID:11406611 PMID:14680978 PMID:15359379 PMID:15868465 PMID:16010683 PMID:16199547 PMID:16835865 PMID:17576681 PMID:17968484 PMID:19339287 PMID:21071250 PMID:22150417 PMID:22264772 PMID:22642865 PMID:24033266 PMID:24078573 PMID:25356967 PMID:25382614 PMID:25741868 PMID:26566957 PMID:27577216 PMID:27601257 PMID:28492532 PMID:30626930 PMID:31901042 NCBI chr 2:122,550,777...122,690,540
Ensembl chr 2:122,550,775...122,690,617
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 Mccc2 methylcrotonyl-CoA carboxylase subunit 2 ISO ClinVar Annotator: match by term: 3-methylcrotonyl CoA carboxylase 2 deficiency
ClinVar Annotator: match by OMIM:210210
OMIM
ClinVar
PMID:1293382 PMID:7128647 PMID:8598650 PMID:9536098 PMID:9544913 PMID:11170888 PMID:11181649 PMID:11406611 PMID:14680978 PMID:15877210 PMID:16010683 PMID:16199547 PMID:16835865 PMID:17576681 PMID:17908719 PMID:17968484 PMID:20818363 PMID:20818383 PMID:21071250 PMID:22030835 PMID:22150417 PMID:22264772 PMID:22642865 PMID:25087612 PMID:25356967 PMID:25382614 PMID:25741868 PMID:26566957 PMID:26764160 PMID:27033733 PMID:27601257 PMID:28018443 PMID:28492532 PMID:30626930 NCBI chr 2:30,175,017...30,246,028
Ensembl chr 2:30,175,018...30,246,010
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: 3-MCC Deficiency
ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency
ClinVar PMID:10485305 PMID:11170888 PMID:11181649 PMID:11406611 PMID:14680978 PMID:15359379 PMID:15868465 PMID:16010683 PMID:16199547 PMID:16835865 PMID:22264772 PMID:22642865 PMID:24033266 PMID:25356967 PMID:25382614 PMID:25741868 PMID:26566957 PMID:27601257 PMID:28492532 NCBI chr 2:122,550,777...122,690,540
Ensembl chr 2:122,550,775...122,690,617
JBrowse link
G Mccc2 methylcrotonyl-CoA carboxylase subunit 2 ISO ClinVar Annotator: match by term: 3-MCC Deficiency
ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency
ClinVar PMID:11181649 PMID:16010683 PMID:16835865 PMID:17908719 PMID:20818363 PMID:20818383 PMID:21071250 PMID:22264772 PMID:22642865 PMID:25087612 PMID:25356967 PMID:25741868 PMID:26764160 PMID:27601257 PMID:28492532 NCBI chr 2:30,175,017...30,246,028
Ensembl chr 2:30,175,018...30,246,010
JBrowse link
adult-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 susceptibility ISO DNA:mutations: :multiple
ClinVar Annotator: match by term: Citrin deficiency
ClinVar Annotator: match by term: Late-onset citrullinemia
CTD Direct Evidence: marker/mechanism
DNA,protein:mutations,decreased expression:exons,liver:multiple
ClinVar
CTD
OMIM
PMID:9536098 PMID:10369257 PMID:11153906 PMID:11281457 PMID:11343052 PMID:11343053 PMID:11793471 PMID:12409267 PMID:12424587 PMID:12512993 PMID:14680984 PMID:15050970 PMID:16059747 PMID:16199547 PMID:16311094 PMID:16449956 PMID:17576681 PMID:17880783 PMID:18392553 PMID:18487280 PMID:19036621 PMID:19470249 PMID:20301360 PMID:20376801 PMID:20927635 PMID:21134364 PMID:21424115 PMID:21507300 PMID:22710133 PMID:23022256 PMID:23053473 PMID:23067347 PMID:23430852 PMID:23701493 PMID:24069319 PMID:24161253 PMID:24586645 PMID:25110155 PMID:25216257 PMID:25365849 PMID:25640679 PMID:25741868 PMID:26852511 PMID:26858187 PMID:27347070 PMID:27405544 PMID:27577219 PMID:27578510 PMID:28492532 PMID:29651749 PMID:29659898, PMID:10369257, PMID:11153906 RGD:1599241, RGD:1599242 NCBI chr 4:31,134,165...31,757,006
Ensembl chr 4:31,608,269...31,730,386
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 DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Argininosuccinate lyase deficiency
ClinVar Annotator: match by term: Argininosuccinic Aciduria
protein:decreased expression:liver,erythrocyte,fibroblast, amniocyte
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:207900
ClinVar
CTD
OMIM
PMID:203629 PMID:705937 PMID:1705937 PMID:2263616 PMID:3106853 PMID:9045711 PMID:9256435 PMID:9536098 PMID:9686346 PMID:10896281 PMID:11747432 PMID:11747433 PMID:12384776 PMID:12408190 PMID:15273245 PMID:16199547 PMID:16435180 PMID:16941645 PMID:17326097 PMID:17576681 PMID:18616627 PMID:19224584 PMID:19703900 PMID:20236848 PMID:20298553 PMID:21667091 PMID:21744316 PMID:22081021 PMID:22231378 PMID:22541557 PMID:23430928 PMID:24033266 PMID:24136197 PMID:24166829 PMID:24516753 PMID:25087612 PMID:25433810 PMID:25525159 PMID:25741868 PMID:25778938 PMID:26661037 PMID:26745957 PMID:26843370 PMID:27515243 PMID:28251416 PMID:28492532 PMID:28600779 PMID:29326055 PMID:29773863 PMID:30285816 PMID:31030429 PMID:31156699 PMID:31709144 PMID:31943503, PMID:12408190, PMID:3440446 RGD:1302509, RGD:13628399 NCBI chr12:30,160,922...30,178,348
Ensembl chr12:30,165,694...30,178,341
JBrowse link
G Gusb glucuronidase, beta ISO ClinVar Annotator: match by term: Argininosuccinic Aciduria ClinVar PMID:19224584 PMID:28492532 NCBI chr12:30,202,066...30,215,583
Ensembl chr12:30,198,822...30,227,771
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 ClinVar Annotator: match by term: Osteopetrosis with renal tubular acidosis
ClinVar Annotator: match by OMIM:259730
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:1301935 PMID:1542674 PMID:1928091 PMID:4624444 PMID:5041390 PMID:7627193 PMID:8127074 PMID:8128957 PMID:8834238 PMID:12566520 PMID:18060825 PMID:25741868 PMID:28492532 NCBI chr 2:88,097,740...88,112,868
Ensembl chr 2:88,097,720...88,113,029
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 ISO CPS I deficiency, OMIM:237300, DNA:splice-site mutation
ClinVar Annotator: match by OMIM:237300
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CPS I DEFICIENCY
ClinVar Annotator: match by term: Congenital hyperammonemia, type I
OMIM
ClinVar
CTD
PMID:8486760 PMID:9686343 PMID:9711878 PMID:11388595 PMID:11474210 PMID:12655559 PMID:12955727 PMID:15050969 PMID:15164414 PMID:15617192 PMID:15876373 PMID:16199547 PMID:16737834 PMID:17310273 PMID:18414213 PMID:18666241 PMID:19167850 PMID:19309799 PMID:19793055 PMID:20578160 PMID:20800523 PMID:20855223 PMID:21068339 PMID:21120950 PMID:22173106 PMID:22575620 PMID:23649895 PMID:24813853 PMID:25741868 PMID:26059772 PMID:26440671 PMID:26592762 PMID:27150549 PMID:27290639 PMID:27436290 PMID:28007335 PMID:28444906 PMID:28492532 PMID:28526534 PMID:28658158 PMID:29888426 PMID:30285816 PMID:31435610 PMID:31507628 PMID:31749211, PMID:8486760 RGD:1600715 NCBI chr 9:74,113,437...74,236,274
Ensembl chr 9:74,124,016...74,236,274
JBrowse link
citrullinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apob apolipoprotein B ISO ClinVar Annotator: match by term: Citrullinuria ClinVar PMID:11941481 PMID:18325181 PMID:20828696 PMID:21722902 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28895539 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: Citrullinemia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:130,446,644...130,452,632
Ensembl chr 7:130,446,668...130,451,283
JBrowse link
G Ass1 argininosuccinate synthase 1 susceptibility ISO ClinVar Annotator: match by term: Citrullinemia
ClinVar Annotator: match by term: Citrullinemia, mild
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1943692 PMID:2246255 PMID:2358466 PMID:2615645 PMID:6124451 PMID:7557970 PMID:7977368 PMID:8792870 PMID:9090528 PMID:9536098 PMID:10987146 PMID:11211875 PMID:11571557 PMID:11708871 PMID:11941481 PMID:12684898 PMID:12815590 PMID:14680976 PMID:15266621 PMID:15334737 PMID:15863597 PMID:16124451 PMID:16199547 PMID:16475226 PMID:17576681 PMID:18473344 PMID:18666241 PMID:18925679 PMID:19006241 PMID:19358837 PMID:21227727 PMID:21244552 PMID:21483992 PMID:22106832 PMID:22473243 PMID:22494545 PMID:22768672 PMID:23094117 PMID:23099195 PMID:23246278 PMID:23430935 PMID:23611581 PMID:23780642 PMID:24033266 PMID:24508627 PMID:24713661 PMID:24765495 PMID:24889030 PMID:25047749 PMID:25087612 PMID:25179242 PMID:25433810 PMID:25537548 PMID:25741868 PMID:26117549 PMID:26206375 PMID:27287393 PMID:27629047 PMID:28111830 PMID:28132756 PMID:28302489 PMID:28492532 PMID:29378745 PMID:30285816 PMID:31208364, PMID:7557970 RGD:1599301 NCBI chr 3:10,327,411...10,375,847
Ensembl chr 3:10,327,414...10,375,826
JBrowse link
G Slc25a13 solute carrier family 25 member 13 ISO ClinVar Annotator: match by term: Citrullinemia ClinVar PMID:28492532 NCBI chr 4:31,134,165...31,757,006
Ensembl chr 4:31,608,269...31,730,386
JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO RGD PMID:10805333, PMID:10369256 RGD:1599240, RGD:1599239 NCBI chr16:74,505,318...74,554,523
Ensembl chr16:74,531,564...74,554,529
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 1:21,525,421...21,537,872
Ensembl chr 1:21,525,421...21,537,863
JBrowse link
G Slc25a13 solute carrier family 25 member 13 ISO ClinVar Annotator: match by term: Citrullinemia type II ClinVar PMID:9536098 PMID:10369257 PMID:11153906 PMID:11281457 PMID:11343052 PMID:11343053 PMID:11793471 PMID:12424587 PMID:12512993 PMID:14680984 PMID:15050970 PMID:16059747 PMID:16199547 PMID:16449956 PMID:17576681 PMID:17880783 PMID:18367750 PMID:18392553 PMID:19036621 PMID:19470249 PMID:20301360 PMID:21134364 PMID:21424115 PMID:21507300 PMID:22575253 PMID:22710133 PMID:23022256 PMID:23053473 PMID:23067347 PMID:23430852 PMID:24069319 PMID:24161253 PMID:24586645 PMID:25216257 PMID:25365849 PMID:25741868 PMID:26852511 PMID:27347070 PMID:27405544 PMID:27577219 PMID:27578510 PMID:28492532 PMID:29659898 NCBI chr 4:31,134,165...31,757,006
Ensembl chr 4:31,608,269...31,730,386
JBrowse link
classic citrullinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apob apolipoprotein B ISO ClinVar Annotator: match by term: argininosuccinate synthetase deficiency ClinVar PMID:11941481 PMID:18325181 PMID:20828696 PMID:21722902 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28895539 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Ass1 argininosuccinate synthase 1 ISO ClinVar Annotator: match by term: Citrullinemia type I OMIM
ClinVar
PMID:934749 PMID:1943692 PMID:2246255 PMID:2358466 PMID:2615645 PMID:7557970 PMID:7977368 PMID:8792870 PMID:9090528 PMID:9536098 PMID:10987146 PMID:11211875 PMID:11571557 PMID:11708871 PMID:11738042 PMID:11941481 PMID:12684898 PMID:12815590 PMID:14680976 PMID:15266621 PMID:15334737 PMID:15863597 PMID:16124451 PMID:16199547 PMID:16475226 PMID:17576681 PMID:18473344 PMID:18666241 PMID:18925679 PMID:19006241 PMID:19358837 PMID:20005624 PMID:21227727 PMID:21244552 PMID:21483992 PMID:22106832 PMID:22473243 PMID:22494545 PMID:22768672 PMID:23094117 PMID:23099195 PMID:23246278 PMID:23430935 PMID:23611581 PMID:23780642 PMID:24033266 PMID:24508627 PMID:24713661 PMID:24765495 PMID:24889030 PMID:25047749 PMID:25087612 PMID:25179242 PMID:25433810 PMID:25537548 PMID:25741868 PMID:26117549 PMID:26206375 PMID:27287393 PMID:28111830 PMID:28132756 PMID:28302489 PMID:28492532 PMID:29378745 PMID:30285816 PMID:30612563 PMID:31208364 PMID:32860008 NCBI chr 3:10,327,411...10,375,847
Ensembl chr 3:10,327,414...10,375,826
JBrowse link
G Slc25a13 solute carrier family 25 member 13 ISO ClinVar Annotator: match by term: Citrullinemia type I ClinVar PMID:10369257 PMID:14680984 PMID:16199547 PMID:23022256 PMID:23053473 PMID:23067347 PMID:25216257 PMID:25741868 PMID:27405544 PMID:28492532 NCBI chr 4:31,134,165...31,757,006
Ensembl chr 4:31,608,269...31,730,386
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
ClinVar Annotator: match by OMIM:207800
ClinVar
OMIM
PMID:480013 PMID:624188 PMID:1463019 PMID:1598908 PMID:2365823 PMID:3658675 PMID:7649538 PMID:7981719 PMID:8902193 PMID:10502833 PMID:11883902 PMID:12052859 PMID:15565656 PMID:16199547 PMID:18666241 PMID:18957279 PMID:19052914 PMID:19562505 PMID:19936428 PMID:21310339 PMID:21802329 PMID:22959135 PMID:23859858 PMID:24103480 PMID:24482476 PMID:24814679 PMID:25741868 PMID:26169240 PMID:26310552 PMID:27038030 PMID:27898091 PMID:28089752 PMID:28492532 PMID:29726057 PMID:30285816, PMID:7649538 RGD:1599208 NCBI chr 1:21,525,421...21,537,872
Ensembl chr 1:21,525,421...21,537,863
JBrowse link
G Arntl aryl hydrocarbon receptor nuclear translocator-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:27056296 NCBI chr 1:178,039,002...178,137,469
Ensembl chr 1:178,039,063...178,137,465
JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Arginase deficiency ClinVar PMID:28492532 NCBI chr 1:21,748,201...21,813,205
Ensembl chr 1:21,748,261...21,813,371
JBrowse link
G Enpp3 ectonucleotide pyrophosphatase/phosphodiesterase 3 ISO ClinVar Annotator: match by term: Arginase deficiency ClinVar PMID:28492532 NCBI chr 1:21,613,148...21,684,483
Ensembl chr 1:21,613,148...21,684,480
JBrowse link
G Med23 mediator complex subunit 23 ISO ClinVar Annotator: match by term: Hyperargininemia
ClinVar Annotator: match by term: Arginase deficiency
ClinVar PMID:624188 PMID:1463019 PMID:1598908 PMID:7649538 PMID:7981719 PMID:8902193 PMID:10502833 PMID:11883902 PMID:12052859 PMID:15565656 PMID:16199547 PMID:18666241 PMID:18957279 PMID:19052914 PMID:19562505 PMID:19936428 PMID:21310339 PMID:21802329 PMID:22959135 PMID:23859858 PMID:24103480 PMID:24482476 PMID:24814679 PMID:25741868 PMID:26169240 PMID:27038030 PMID:27898091 PMID:28089752 PMID:28492532 PMID:30285816 NCBI chr 1:21,539,765...21,587,675
Ensembl chr 1:21,539,765...21,586,910
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 CTD Direct Evidence: marker/mechanism OMIM
CTD
PMID:12594532 PMID:12754705 NCBI chr10:90,084,607...90,089,693
Ensembl chr10:90,085,559...90,089,693
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 OMIM:605814
OMIM
ClinVar
PMID:9536098 PMID:10369257 PMID:11153906 PMID:11281457 PMID:11343052 PMID:11343053 PMID:11793471 PMID:12424587 PMID:12512993 PMID:14680984 PMID:15050970 PMID:16059747 PMID:16199547 PMID:16449956 PMID:17576681 PMID:17880783 PMID:18392553 PMID:19036621 PMID:19470249 PMID:20301360 PMID:20927635 PMID:21134364 PMID:21424115 PMID:21507300 PMID:22710133 PMID:23022256 PMID:23053473 PMID:23067347 PMID:23430852 PMID:23701493 PMID:24069319 PMID:24161253 PMID:24327139 PMID:24586645 PMID:25365849 PMID:25741868 PMID:26852511 PMID:26858187 PMID:27347070 PMID:27405544 PMID:27577219 PMID:27578510 PMID:28492532 PMID:29651749 PMID:29659898 NCBI chr 4:31,134,165...31,757,006
Ensembl chr 4:31,608,269...31,730,386
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 PMID:22382802 PMID:22494545 PMID:28492532 NCBI chr  X:11,137,889...11,164,854
Ensembl chr  X:11,136,939...11,164,915
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 PMID:22382802 PMID:22494545 PMID:28492532 NCBI chr  X:11,570,155...11,692,022
Ensembl chr  X:11,648,989...11,691,099
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 PMID:22382802 PMID:22494545 PMID:28492532 NCBI chr  X:46,791,976...46,903,351 JBrowse link
G Cybb cytochrome b-245 beta chain ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:10946359 PMID:11793468 PMID:16786505 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 PMID:22382802 PMID:22494545 PMID:28492532 NCBI chr  X:14,578,330...14,610,049
Ensembl chr  X:14,578,264...14,612,547
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 PMID:22382802 PMID:22494545 PMID:28492532 NCBI chr  X:51,149,358...53,519,271
Ensembl chr  X:51,286,737...53,519,259
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:16786505 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 PMID:22382802 PMID:22494545 PMID:28492532 NCBI chr  X:14,633,342...14,642,356
Ensembl chr  X:14,633,342...14,642,424
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 PMID:22382802 PMID:22494545 PMID:28492532 NCBI chr  X:45,965,258...45,966,930
Ensembl chr  X:45,965,301...45,966,934
JBrowse link
G Fthl17e ferritin, heavy polypeptide-like 17, member E ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 PMID:22382802 PMID:22494545 PMID:28492532 NCBI chr  X:53,628,946...53,629,936
Ensembl chr  X:53,629,255...53,629,803
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 PMID:22382802 PMID:22494545 PMID:28492532 NCBI chr  X:54,227,291...54,303,897
Ensembl chr  X:54,227,397...54,303,864
JBrowse link
G H2ap H2A.P histone ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:10946359 PMID:11793468 PMID:16786505 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 PMID:22382802 PMID:22494545 PMID:28492532 NCBI chr  X:13,989,401...13,989,955
Ensembl chr  X:13,989,401...13,989,955
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 treatment ISO RGD PMID:16703326 RGD:12743607 NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
JBrowse link
G Lancl3 LanC like 3 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 PMID:22382802 PMID:22494545 PMID:28492532 NCBI chr  X:14,358,224...14,490,340
Ensembl chr  X:14,358,224...14,490,340
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 PMID:22382802 PMID:22494545 PMID:28492532 NCBI chr  X:46,977,655...47,026,377
Ensembl chr  X:46,977,655...47,078,128
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 PMID:22382802 PMID:22494545 PMID:28492532 NCBI chr  X:10,964,035...11,082,403
Ensembl chr  X:10,963,809...11,082,565
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 PMID:22382802 PMID:22494545 PMID:28492532 NCBI chr  X:13,114,557...13,119,274
Ensembl chr  X:13,114,569...13,116,743
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 PMID:22382802 PMID:22494545 PMID:28492532 NCBI chr  X:11,098,849...11,105,312 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 PMID:22382802 PMID:22494545 PMID:28492532 NCBI chr  X:54,734,385...54,738,513
Ensembl chr  X:54,734,385...54,738,513
JBrowse link
G Otc ornithine transcarbamylase IMP
ISO
ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency
ClinVar Annotator: match by term: OTC deficiency
ClinVar Annotator: match by OMIM:311250
CTD Direct Evidence: marker/mechanism|therapeutic
DNA:missense mutation:exon:EX4p.R129H (mouse)
DNA:missense mutations:multiple (human)
ClinVar
OMIM
CTD
PMID:1353535 PMID:1480464 PMID:1627356 PMID:1671317 PMID:1721894 PMID:1757964 PMID:2035531 PMID:2037279 PMID:2208768 PMID:2246687 PMID:2347583 PMID:2474822 PMID:2556444 PMID:2741942 PMID:2836378 PMID:2843770 PMID:3170748 PMID:7474892 PMID:7474905 PMID:7627182 PMID:7860064 PMID:7860066 PMID:7951259 PMID:8081398 PMID:8260194 PMID:8364586 PMID:8365726 PMID:8530002 PMID:8566955 PMID:8778603 PMID:8786061 PMID:8807340 PMID:8829665 PMID:8830175 PMID:8857803 PMID:8863155 PMID:8956038 PMID:8985493 PMID:9007316 PMID:9028466 PMID:9048915 PMID:9056557 PMID:9143919 PMID:9175746 PMID:9266388 PMID:9286441 PMID:9427144 PMID:9452024 PMID:9452049 PMID:9501271 PMID:9536098 PMID:9609999 PMID:9610619 PMID:9686344 PMID:9852088 PMID:10070627 PMID:10405441 PMID:10502831 PMID:10799432 PMID:10946359 PMID:11102556 PMID:11117428 PMID:11260212 PMID:11388595 PMID:11768581 PMID:11793468 PMID:11793483 PMID:12083811 PMID:12402347 PMID:12536032 PMID:14976564 PMID:15060014 PMID:15174800 PMID:16199547 PMID:16677864 PMID:16786505 PMID:17041896 PMID:17044854 PMID:17334707 PMID:17565723 PMID:17576681 PMID:17613537 PMID:17922216 PMID:18204299 PMID:18440262 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19669271 PMID:19783189 PMID:19893582 PMID:20406775 PMID:20458665 PMID:20817516 PMID:21070677 PMID:21488237 PMID:21956151 PMID:22340867 PMID:22382802 PMID:22494545 PMID:22727265 PMID:23209112 PMID:23278509 PMID:23551631 PMID:23769969 PMID:23821427 PMID:24010702 PMID:24033266 PMID:24449986 PMID:25011434 PMID:25026867 PMID:25433810 PMID:25637381 PMID:25741868 PMID:25741869 PMID:25853564 PMID:25949836 PMID:25994866 PMID:26059767 PMID:26574542 PMID:26753873 PMID:26819360 PMID:27070778 PMID:28266016 PMID:28324312 PMID:28492532 PMID:28815739 PMID:29282796 PMID:29581464 PMID:30175132 PMID:30285816 PMID:31426867 PMID:32410394 PMID:32934962, PMID:7827141, PMID:2471197, PMID:8956038, PMID:11793468 RGD:4144079, RGD:4144085, RGD:1600998, RGD:1600999 NCBI chr  X:13,524,804...13,601,074
Ensembl chr  X:13,524,607...13,601,069
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 PMID:22382802 PMID:22494545 PMID:28492532 NCBI chr  X:45,698,240...45,806,238
Ensembl chr  X:45,698,237...45,806,198
JBrowse link
G RGD1565685 similar to RIKEN cDNA 1810030O07 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 PMID:22382802 PMID:22494545 PMID:28492532 NCBI chr  X:11,082,668...11,105,588
Ensembl chr  X:11,084,317...11,105,588
JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:10946359 PMID:11793468 PMID:16786505 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 PMID:22382802 PMID:22494545 PMID:28492532 NCBI chr  X:14,271,012...14,331,745
Ensembl chr  X:14,271,017...14,331,486
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:16786505 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 PMID:22382802 PMID:22494545 PMID:28492532 NCBI chr  X:14,146,618...14,220,756
Ensembl chr  X:14,150,038...14,220,662
JBrowse link
G Sytl5 synaptotagmin-like 5 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:10946359 PMID:11793468 PMID:16786505 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 PMID:22382802 PMID:22494545 PMID:28492532 NCBI chr  X:13,857,669...14,109,592
Ensembl chr  X:14,019,961...14,109,568
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 PMID:22382802 PMID:22494545 PMID:28492532 NCBI chr  X:54,035,958...54,090,282
Ensembl chr  X:54,062,935...54,086,339
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 PMID:22382802 PMID:22494545 PMID:28492532 NCBI chr  X:54,390,733...54,409,466
Ensembl chr  X:54,390,733...54,409,466
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 PMID:22382802 PMID:22494545 PMID:28492532 NCBI chr  X:48,779,110...48,805,644
Ensembl chr  X:48,779,110...48,805,644
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 PMID:22382802 PMID:22494545 PMID:28492532 NCBI chr  X:13,261,551...13,282,886
Ensembl chr  X:13,261,558...13,279,099
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 PMID:22382802 PMID:22494545 PMID:28492532 NCBI chr  X:10,510,033...10,660,555
Ensembl chr  X:10,510,033...10,630,297
JBrowse link
G Xk X-linked Kx blood group ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:10946359 PMID:11793468 PMID:16786505 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 PMID:22382802 PMID:22494545 PMID:28492532 NCBI chr  X:14,497,376...14,534,479
Ensembl chr  X:14,498,119...14,534,473
JBrowse link
ornithine translocase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrps31 mitochondrial ribosomal protein S31 ISO ClinVar Annotator: match by term: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome ClinVar PMID:10369256 PMID:28492532 NCBI chr16:74,467,874...74,504,834
Ensembl chr16:74,467,851...74,496,731
JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO ClinVar Annotator: match by term: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
ClinVar Annotator: match by OMIM:238970
OMIM
ClinVar
PMID:3407856 PMID:10369256 PMID:10805333 PMID:11355015 PMID:11552031 PMID:12807890 PMID:16199547 PMID:16376511 PMID:16601889 PMID:16940241 PMID:17825324 PMID:18666241 PMID:19242930 PMID:22649802 PMID:23430880 PMID:24473688 PMID:25741868 PMID:25818551 PMID:25874378 PMID:26589310 PMID:28492532 PMID:29554876 PMID:30187369 PMID:30243302 PMID:32214227 NCBI chr16:74,505,318...74,554,523
Ensembl chr16:74,531,564...74,554,529
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    Nutritional and Metabolic Diseases 5514
      disease of metabolism 5514
        inherited metabolic disorder 2607
          Metabolic Brain Diseases, Inborn 538
            urea cycle disorder 47
              3-Methylcrotonyl-CoA carboxylase deficiency + 2
              Citrulline Transport Defect 0
              N-acetylglutamate synthase deficiency 1
              argininosuccinic aciduria 2
              autosomal recessive osteopetrosis 3 1
              carbamoyl phosphate synthetase I deficiency disease 1
              citrullinemia + 6
              hyperargininemia 5
              ornithine carbamoyltransferase deficiency 29
              ornithine translocase deficiency 2
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      nervous system disease 12074
        central nervous system disease 10353
          brain disease 9712
            Metabolic Brain Diseases 608
              Metabolic Brain Diseases, Inborn 538
                urea cycle disorder 47
                  3-Methylcrotonyl-CoA carboxylase deficiency + 2
                  Citrulline Transport Defect 0
                  N-acetylglutamate synthase deficiency 1
                  argininosuccinic aciduria 2
                  autosomal recessive osteopetrosis 3 1
                  carbamoyl phosphate synthetase I deficiency disease 1
                  citrullinemia + 6
                  hyperargininemia 5
                  ornithine carbamoyltransferase deficiency 29
                  ornithine translocase deficiency 2
paths to the root