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Details
Link-It Detail - Disease - Carbamoyl-Phosphate Synthase I Deficiency Disease
Debug Stats
  • ### Total Build Time: 30 ms 16.119 KB
  • CONCEPT_NAME gt=5 ms Completed: 5 ms rowSize= 396 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 370 bytes
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  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
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  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.183 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Carbamoyl-Phosphate Synthase I Deficiency Disease C0751753
Definition (1)
genetic aminoacidopathy due to a deficiency of carbamoyl phosphate synthase (ammonia); characteristic symptoms include pronounced hyperammonemia without orotic aciduria, protein intolerance, and neurologic disorders.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Mitochondrial Diseases C0751651
img Urea Cycle Disorders, Inborn C0154246
Ancestral Roots
RootRoot Plus OneDepthParent
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255174img Mitochondrial Diseases C0751651
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501236img Urea Cycle Disorders, Inborn C0154246
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
Relationships (12)

Relation Types:
diso_​to_​chem : 2
diso_​to_​diso : 9
diso_​to_​phen : 1


Relationships:
none : 2
associated_​with : 2
manifestation_​of : 7
used_​for : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN8img genetic aspects C0017399
DISO_to_CHEM6img Carbamoyl-Phosphate Synthase (Ammonia) C0006961
DISO_to_CHEMassociated_withimg Carbamoyl-Phosphate Synthase (Ammonia) C0006961
DISO_to_DISOassociated_withimg 270 CONGENITAL DEFICIENCIES C0333006
DISO_to_DISOused_forimg Carbamoyl-Phosphate Synthase I Deficiency Disease C0751753
DISO_to_DISOmanifestation_ofimg Caused by mutations in the carbamoylphosphate synthetase I gene (CPS1, 608307.0001) C1968715
DISO_to_DISOmanifestation_ofimg HYPERAMMONAEMIA C0220994
DISO_to_DISOmanifestation_ofimg Hepatic carbamoylphosphate synthetase I deficiency C1855984
DISO_to_DISOmanifestation_ofimg Low plasma arginine C1855982
DISO_to_DISOmanifestation_ofimg Low plasma citrulline C1839532
DISO_to_DISOmanifestation_ofimg Low urinary orotic acid C1855983
DISO_to_DISOmanifestation_ofimg Two types - lethal neonatal and less severe, late onset C1839537
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanNAGS162417N-acetylglutamate synthase
img OMIM, Score=938, UMLKSK CUI: C0751753
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0751753Carbamoyl-Phosphate Synthase I Deficiency Disease0self