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Details
Link-It Detail - Disease - Citrullinemia
Debug Stats
  • ### Total Build Time: 42 ms 24.626 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 324 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 380 bytes
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  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
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  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
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  • CONCEPT_RELATIONSHIPS gt=27 ms Completed: 27 ms rowSize= 13.119 KB
  • CONCEPT_GENES gt=4 ms Completed: 4 ms rowSize= 4.752 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.147 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Citrullinemia C0175683
Definition (1)
A rare autosomal recessive inherited disorder caused by mutations in the ASS1 and SLC25A13 genes. It is characterized by a defective urea cycle, resulting in the accumulation of ammonia and other toxic substances in the blood.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Urea Cycle Disorders, Inborn C0154246
Ancestral Roots
RootRoot Plus OneDepthParent
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 (44)

Relation Types:
diso_​to_​anat : 1
diso_​to_​chem : 5
diso_​to_​diso : 36
diso_​to_​phen : 2


Relationships:
none : 9
associated_​with : 2
expanded_​form_​of : 1
isa : 3
manifestation_​of : 26
mapped_​to : 3
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN30img genetic aspects C0017399
DISO_to_PHEN25img genetic aspects C0017399
DISO_to_DISO18img Complication Aspects C1171258
DISO_to_DISO15img Complication Aspects C1171258
DISO_to_ANAT10img In Blood C0005768
DISO_to_CHEM9img ARGININOSUCCINATE SYNTHASE C0003776
DISO_to_CHEM9img Calcium-Binding Proteins C0006732
DISO_to_CHEM9img Membrane Transport Proteins C0596902
DISO_to_CHEM9img Mitochondrial Protein C0949610
DISO_to_CHEMassociated_withimg ARGININOSUCCINATE SYNTHASE C0003776
DISO_to_DISOassociated_withimg 270 CONGENITAL DEFICIENCIES C0333006
DISO_to_DISOmanifestation_ofimg ALKALOSIS RESPIRATORY C0002064
DISO_to_DISOmapped_toimg Adult-onset citrullinemia type 2 C1863844
DISO_to_DISOmanifestation_ofimg Ataxia C0004134
DISO_to_DISOmapped_toimg CITRULLINEMIA, TYPE II, NEONATAL-ONSET C1853942
DISO_to_DISOmapped_toimg CTNL1 C2931851
DISO_to_DISOmanifestation_ofimg Caused by mutation in the argininosuccinate synthetase gene (ASS, 603470.0001) C1859087
DISO_to_DISOmanifestation_ofimg Cerebral Edema C0006114
DISO_to_DISOmanifestation_ofimg Cirrhosis (in late-onset cases) C2749715
DISO_to_DISOisaimg Citrullinaemia, late-onset type C0268546
DISO_to_DISOisaimg Citrullinaemia, neonatal type C0268544
DISO_to_DISOisaimg Citrullinaemia, subacute type C0268545
DISO_to_DISOexpanded_form_ofimg Citrullinemia C0175683
DISO_to_DISOmanifestation_ofimg Coma C0009421
DISO_to_DISOmanifestation_ofimg Developmental delay (disorder) C0424605
Genes (3)

Species:
human : 3
SpeciesGeneGeneIdGene NameEvidence
HumanSLC25A1310165solute carrier family 25 (aspartate/glutamate carrier), member 13
img GAD, Score=1000, Pubmed Id: 11153906, UMLKSK CUI: C0175683
img OMIM, Score=1000, UMLKSK CUI: C0175683
HumanAASS10157aminoadipate-semialdehyde synthase
img OMIM, Score=1000, UMLKSK CUI: C0175683
HumanASS1445argininosuccinate synthase 1
img GENERIF, Score=694, Pubmed Id: 12815590, UMLKSK CUI: C0175683
img GENERIF, Score=861, Pubmed Id: 11941481, UMLKSK CUI: C0175683
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0175683Citrullinemia0self