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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 methylcrotonoyl-CoA carboxylase 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:10485305, PMID:11170888, PMID:11181649, PMID:11406611, PMID:14680978, PMID:15359379, PMID:15868465, PMID:16010683, PMID:16835865, 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 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 methylcrotonoyl-CoA carboxylase 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:9544913, PMID:11170888, PMID:11181649, PMID:11406611, PMID:14680978, PMID:15877210, PMID:16010683, PMID:16835865, PMID:17908719, PMID:17968484, PMID:20818363, PMID:20818383, PMID:21071250, PMID:22030835, PMID:22150417, PMID:22264772, PMID:22642865, PMID:25087612, PMID:25356967, PMID:25741868, PMID:26566957, PMID:26764160, PMID:27033733, PMID:27601257, PMID:28018443, PMID:28492532 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 methylcrotonoyl-CoA carboxylase 1 ISO ClinVar Annotator: match by term: 3-MCC Deficiency
ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency
ClinVar PMID:11170888, PMID:14680978, PMID:24033266, PMID:25356967, PMID:25741868, PMID:28492532 NCBI chr 2:122,550,777...122,690,540
Ensembl chr 2:122,550,775...122,690,617
JBrowse link
G Mccc2 methylcrotonoyl-CoA carboxylase 2 ISO ClinVar Annotator: match by term: 3-MCC Deficiency ClinVar 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
CTD Direct Evidence: marker/mechanism
DNA,protein:mutations,decreased expression:exons,liver:multiple
ClinVar
CTD
OMIM
PMID:10369257, PMID:11153906, PMID:11281457, PMID:11343052, PMID:11343053, PMID:11793471, PMID:12424587, PMID:12512993, PMID:14680984, PMID:15050970, PMID:16059747, PMID:16449956, 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:24069319, PMID:24161253, PMID:24586645, PMID:25110155, PMID:25216257, PMID:25365849, PMID:25741868, PMID:26852511, 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
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:9686346, PMID:10896281, PMID:11747432, PMID:11747433, PMID:12384776, PMID:12408190, PMID:15273245, PMID:16435180, PMID:16941645, PMID:17326097, PMID:18616627, 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: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: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: Argininosuccinate lyase deficiency ClinVar 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, PMID:30311386 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:11474210, PMID:12655559, PMID:12955727, PMID:15050969, PMID:15164414, PMID:15617192, PMID:15876373, PMID:16737834, PMID:17310273, PMID:18414213, PMID:18666241, PMID:19167850, PMID:19309799, PMID:19793055, PMID:20578160, PMID:20800523, PMID:20855223, PMID:21120950, PMID:22173106, PMID:22575620, PMID:23649895, PMID:24813853, PMID:25741868, PMID:26059772, PMID:26440671, PMID:26592762, PMID:27150549, PMID:27290639, PMID:28007335, PMID:28444906, PMID:28492532, PMID:28526534, PMID:28658158, PMID:31507628, 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 Ass1 argininosuccinate synthase 1 susceptibility ISO ClinVar Annotator: match by term: Citrullinemia, mild
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11941481, PMID:12815590, PMID:14680976, PMID:18473344, PMID:18925679, PMID:23780642, PMID:25741868, PMID:28111830, PMID:28492532, 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 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:10369257, PMID:11153906, PMID:11281457, PMID:11343052, PMID:11343053, PMID:11793471, PMID:12424587, PMID:12512993, PMID:14680984, PMID:15050970, PMID:16059747, PMID:16449956, 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: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 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:6124451, PMID:7557970, PMID:7977368, PMID:8792870, PMID:9090528, 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:16475226, 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:27629047, PMID:28111830, PMID:28132756, PMID:28302489, PMID:28492532, PMID:29378745, PMID:30285816, PMID:30311386, PMID:30612563 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: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:18666241, PMID:18957279, PMID:19052914, PMID:19562505, PMID:21310339, PMID:21802329, PMID:22959135, PMID:23859858, PMID:24103480, PMID:24482476, PMID:25741868, PMID:26169240, PMID:26310552, PMID:27038030, PMID:27898091, PMID:28089752, PMID:28492532, 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 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:18666241, PMID:18957279, PMID:19052914, PMID:19562505, PMID:21310339, PMID:21802329, PMID:22959135, PMID:23859858, PMID:24103480, PMID:24482476, PMID:25741868, PMID:26169240, PMID:27038030, PMID:27898091, PMID:28089752, PMID:28492532 NCBI chr 1:21,539,765...21,587,675
Ensembl chr 1:21,539,765...21,586,910
JBrowse link
N-Acetyl Glutamate Synthetase 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:10369257, PMID:11153906, PMID:11281457, PMID:11343052, PMID:11343053, PMID:11793471, PMID:12424587, PMID:12512993, PMID:14680984, PMID:15050970, PMID:16059747, PMID:16449956, 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:24069319, PMID:24161253, PMID:24327139, PMID:24586645, PMID:25365849, PMID:25741868, PMID:26852511, 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:46,553,745...46,680,769
NCBI chr  X:46,701,342...46,767,826
JBrowse link
G Cybb cytochrome b-245 beta chain 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:14,578,330...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:11793468, 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 Hypm huntingtin interacting protein M 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:13,989,401...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 LOC691895 similar to ferritin, heavy polypeptide-like 17 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:14,782,958...14,783,792
Ensembl chr  X:14,782,958...14,783,792
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 carbamoyltransferase 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: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:9452049, PMID:9501271, PMID:9609999, PMID:9610619, PMID:10070627, PMID:10405441, 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:16677864, PMID:16786505, PMID:17041896, PMID:17044854, PMID:17334707, PMID:17565723, PMID:17613537, 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:21956151, PMID:22340867, PMID:22382802, PMID:22494545, PMID:22727265, PMID:23209112, PMID:23278509, PMID:23769969, PMID:23821427, PMID:24010702, PMID:24033266, 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:28492532, PMID:28815739, PMID:29282796, PMID:29581464, PMID:30175132, PMID:30285816, PMID:30311386, PMID:31426867, PMID:32410394, 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:11793468, 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:11793468, 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:11793468, 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:11793468, 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: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: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 16108
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        inherited metabolic disorder 2223
          Metabolic Brain Diseases, Inborn 503
            urea cycle disorder 44
              3-Methylcrotonyl-CoA carboxylase deficiency + 2
              Citrulline Transport Defect 0
              N-Acetyl Glutamate Synthetase Deficiency 1
              argininosuccinic aciduria 2
              autosomal recessive osteopetrosis 3 1
              carbamoyl phosphate synthetase I deficiency disease 1
              citrullinemia + 4
              hyperargininemia 3
              ornithine carbamoyltransferase deficiency 30
              ornithine translocase deficiency 2
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        central nervous system disease 9008
          brain disease 8330
            Metabolic Brain Diseases 574
              Metabolic Brain Diseases, Inborn 503
                urea cycle disorder 44
                  3-Methylcrotonyl-CoA carboxylase deficiency + 2
                  Citrulline Transport Defect 0
                  N-Acetyl Glutamate Synthetase Deficiency 1
                  argininosuccinic aciduria 2
                  autosomal recessive osteopetrosis 3 1
                  carbamoyl phosphate synthetase I deficiency disease 1
                  citrullinemia + 4
                  hyperargininemia 3
                  ornithine carbamoyltransferase deficiency 30
                  ornithine translocase deficiency 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.