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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:ornithine carbamoyltransferase deficiency
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Accession:DOID:9271 term browser browse the term
Definition:An inherited urea cycle disorder associated with deficiency of the enzyme ORNITHINE CARBAMOYLTRANSFERASE, transmitted as an X-linked trait and featuring elevations of amino acids and ammonia in the serum. Clinical features, which are more prominent in males, include seizures, behavioral alterations, episodic vomiting, lethargy, and coma. (Menkes, Textbook of Child Neurology, 5th ed, pp49-50)
Synonyms:exact_synonym: ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO;   OTC Deficiencies;   OTC deficiency;   Ornithine Transcarbamylase Deficiencies;   Ornithine Transcarbamylase Deficiency;   Ornithine Transcarbamylase Deficiency Disease;   deficiency disease, ornithine carbamoyltransferase;   deficiency of citrulline phosphorylase
 narrow_synonym: OTC DEFICIENCY VALPROATE SENSITIVITY
 primary_id: MESH:D020163;   OMIM:311250
 alt_id: RDO:0007323;   RDO:0008707
 xref: GARD:8391;   ICD10CM:E72.4;   NCI:C84957
For additional species annotation, visit the Alliance of Genome Resources.

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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 H2ap H2A.P histone 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 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
DNA:missense mutations:multiple (human)
DNA:missense mutation:exon:EX4p.R129H (mouse)
CTD Direct Evidence: marker/mechanism|therapeutic
ClinVar Annotator: match by OMIM:311250		 ClinVar
CTD
OMIM		 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:9452024 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:28324312 PMID:28492532 PMID:28815739 PMID:29282796 PMID:29581464 PMID:30175132 PMID:30285816 PMID:31426867 PMID:32410394, PMID:7827141, PMID:11793468, PMID:8956038, PMID:2471197 RGD:4144079, RGD:1600999, RGD:1600998, RGD:4144085 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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    Pathological Conditions, Signs and Symptoms 8840
      Pathologic Processes 6201
        Hyperammonemia 52
          ornithine carbamoyltransferase deficiency 29
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        central nervous system disease 9096
          brain disease 8405
            Metabolic Brain Diseases 577
              Metabolic Brain Diseases, Inborn 507
                urea cycle disorder 45
                  ornithine carbamoyltransferase deficiency 29
paths to the root