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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
 primary_id: MESH:D020163;   OMIM:311250
 alt_id: RDO:0007323;   RDO:0008707
 xref: GARD:8391;   ICD10CM:E72.4;   NCI:C84957
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ornithine carbamoyltransferase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp6ap2 ATPase H+ transporting accessory protein 2 JBrowse link X 11,137,889 11,164,854 RGD:8554872
G Bcor BCL6 co-repressor JBrowse link X 11,570,155 11,692,022 RGD:8554872
G Cfap47 cilia and flagella associated protein 47 JBrowse link X
G Cybb cytochrome b-245 beta chain JBrowse link X 14,578,330 14,610,049 RGD:8554872
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:8554872
G Dynlt3 dynein light chain Tctex-type 3 JBrowse link X 14,633,342 14,642,356 RGD:8554872
G Fam47a family with sequence similarity 47, member A JBrowse link X 45,965,258 45,966,930 RGD:8554872
G Fthl17e ferritin, heavy polypeptide-like 17, member E JBrowse link X 53,628,946 53,629,936 RGD:8554872
G Gk glycerol kinase JBrowse link X 54,227,291 54,303,897 RGD:8554872
G Hypm huntingtin interacting protein M JBrowse link X 13,989,401 13,989,955 RGD:8554872
G Igfbp3 insulin-like growth factor binding protein 3 JBrowse link 14 87,457,647 87,465,374 RGD:12743607
G Lancl3 LanC like 3 JBrowse link X 14,358,224 14,490,340 RGD:8554872
G LOC691895 similar to ferritin, heavy polypeptide-like 17 JBrowse link X 14,782,958 14,783,792 RGD:8554872
G Mageb16 MAGE family member B16 JBrowse link X 46,977,655 47,026,377 RGD:8554872
G Med14 mediator complex subunit 14 JBrowse link X 10,964,035 11,082,403 RGD:8554872
G Mid1ip1 MID1 interacting protein 1 JBrowse link X 13,114,557 13,119,274 RGD:8554872
G Mpc1l mitochondrial pyruvate carrier 1-like JBrowse link X 11,098,849 11,105,312 RGD:8554872
G Nr0b1 nuclear receptor subfamily 0, group B, member 1 JBrowse link X 54,734,385 54,738,513 RGD:8554872
G Otc ornithine carbamoyltransferase JBrowse link X 13,524,804 13,601,074 RGD:4144079
G Prrg1 proline rich and Gla domain 1 JBrowse link X 45,698,240 45,806,238 RGD:8554872
G RGD1565685 similar to RIKEN cDNA 1810030O07 JBrowse link X 11,082,668 11,105,588 RGD:8554872
G RGD1565785 similar to chromosome X open reading frame 21 JBrowse link X 54,390,733 54,409,466 RGD:8554872
G Rpgr retinitis pigmentosa GTPase regulator JBrowse link X 14,271,012 14,331,745 RGD:8554872
G Srpx sushi-repeat-containing protein, X-linked JBrowse link X 14,146,618 14,220,756 RGD:8554872
G Sytl5 synaptotagmin-like 5 JBrowse link X 13,857,669 14,109,592 RGD:8554872
G Tab3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 JBrowse link X 54,035,958 54,090,282 RGD:8554872
G Tmem47 transmembrane protein 47 JBrowse link X 48,779,110 48,805,644 RGD:8554872
G Tspan7 tetraspanin 7 JBrowse link X 13,261,551 13,282,886 RGD:8554872
G Usp9x ubiquitin specific peptidase 9, X-linked JBrowse link X 10,510,033 10,660,555 RGD:8554872
G Xk X-linked Kx blood group JBrowse link X 14,497,376 14,534,479 RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 16021
    Pathological Conditions, Signs and Symptoms 8490
      Pathologic Processes 5982
        Hyperammonemia 53
          ornithine carbamoyltransferase deficiency 30
Path 2
Term Annotations click to browse term
  disease 16021
    disease of anatomical entity 15274
      nervous system disease 10770
        central nervous system disease 8860
          brain disease 8147
            Metabolic Brain Diseases 567
              Metabolic Brain Diseases, Inborn 497
                urea cycle disorder 44
                  ornithine carbamoyltransferase deficiency 30
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.