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Details
Link-It Detail - Disease - Ornithine Carbamoyltransferase Deficiency Disease
Debug Stats
  • ### Total Build Time: 186 ms 28.017 KB
  • CONCEPT_NAME gt=7 ms Completed: 7 ms rowSize= 467 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 430 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=1 ms Completed: 1 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=13 ms Completed: 13 ms rowSize= 1,008 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=63 ms Completed: 63 ms rowSize= 5.476 KB
  • CONCEPT_RELATIONSHIPS gt=86 ms Completed: 86 ms rowSize= 13.378 KB
  • CONCEPT_GENES gt=5 ms Completed: 5 ms rowSize= 5.901 KB
  • CONCEPT_XREFS gt=9 ms Completed: 9 ms rowSize= 1.183 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Ornithine Carbamoyltransferase Deficiency Disease C0268542
Ornithine carbamoyltransferase deficiency
Definition (1)
An X-linked urea cycle metabolic disorder characterized by deficiency of ornithine carbamoyltransferase, resulting in the accumulation of amino acids and ammonia in the serum. Signs and symptoms include seizures, delayed growth, behavioral changes, ataxia, lethargy, and coma.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Genetic Diseases, X-Linked C1138434
img Urea Cycle Disorders, Inborn C0154246
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Genetic Diseases, X-Linked C1138434
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255176img Urea Cycle Disorders, Inborn C0154246
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076827img Urea Cycle Disorders, Inborn C0154246
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501236img Urea Cycle Disorders, Inborn C0154246
Relationships (37)

Relation Types:
diso_​to_​chem : 4
diso_​to_​diso : 31
diso_​to_​phen : 2


Relationships:
none : 8
associated_​with : 2
entry_​version_​of : 1
inheritance_​type_​of : 1
manifestation_​of : 23
related_​to : 1
used_​for : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN39img genetic aspects C0017399
DISO_to_PHEN36img genetic aspects C0017399
DISO_to_DISO28img Complication Aspects C1171258
DISO_to_CHEM25img ORNITHINE CARBAMOYLTRANSFERASE C0029279
DISO_to_CHEM21img ORNITHINE CARBAMOYLTRANSFERASE C0029279
DISO_to_DISO18img HYPERAMMONAEMIA C0220994
DISO_to_DISO17img Complication Aspects C1171258
DISO_to_CHEM15img Urea C0041942
DISO_to_CHEMassociated_withimg ORNITHINE CARBAMOYLTRANSFERASE C0029279
DISO_to_DISOassociated_withimg 270 CONGENITAL DEFICIENCIES C0333006
DISO_to_DISOmanifestation_ofimg ALKALOSIS RESPIRATORY C0002064
DISO_to_DISOmanifestation_ofimg Ataxia, episodic C1720189
DISO_to_DISOmanifestation_ofimg Carrier females may present with postpartum hyperammonemia C1839539
DISO_to_DISOmanifestation_ofimg Caused by mutations in the ornithine transcarbamylase gene (OTC, 311250.0001) C1839536
DISO_to_DISOmanifestation_ofimg Cerebral Edema C0006114
DISO_to_DISOmanifestation_ofimg Clinical spectrum in males ranges from lethal neonatal onset to milder forms with first recognized episode in late childhood or even in adulthood C1839538
DISO_to_DISOmanifestation_ofimg Coma C0009421
DISO_to_DISOmanifestation_ofimg Developmental delay (disorder) C0424605
DISO_to_DISOmanifestation_ofimg Episodic ammonia intoxication C1839541
DISO_to_DISOmanifestation_ofimg Failure to Thrive C0015544
DISO_to_DISOmanifestation_ofimg HYPERAMMONAEMIA C0220994
DISO_to_DISOmanifestation_ofimg Hepatic ornithine transcarbamylase deficiency C1839535
DISO_to_DISOmanifestation_ofimg High plasma glutamine C1839533
DISO_to_DISOmanifestation_ofimg High urinary orotic acid C1839534
DISO_to_DISOmanifestation_ofimg Intellectual Disability C0025362
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanOTC5009ornithine carbamoyltransferase
img GENERIF, Score=1000, Pubmed Id: 15692798, UMLKSK CUI: C0268542
img GENERIF, Score=756, Pubmed Id: 16786505, UMLKSK CUI: C0268542
img GENERIF, Score=884, Pubmed Id: 18030415, UMLKSK CUI: C0268542
img GENERIF, Score=1000, Pubmed Id: 11793483, UMLKSK CUI: C0268542
img GENERIF, Score=1000, Pubmed Id: 17041896, UMLKSK CUI: C0268542
img GENERIF, Score=1000, Pubmed Id: 11793468, UMLKSK CUI: C0268542
img GENERIF, Score=884, Pubmed Id: 17570074, UMLKSK CUI: C0268542
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0268542Ornithine Carbamoyltransferase Deficiency Disease0self