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Details
Link-It Detail - Disease - Orotic aciduria
Debug Stats
  • ### Total Build Time: 56 ms 7.604 KB
  • CONCEPT_NAME gt=8 ms Completed: 8 ms rowSize= 328 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 453 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= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 7 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=19 ms Completed: 19 ms rowSize= 3.436 KB
  • CONCEPT_GENES gt=13 ms Completed: 13 ms rowSize= 2.187 KB
  • CONCEPT_XREFS gt=14 ms Completed: 14 ms rowSize= 1.149 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Orotic aciduria C0268128
Definition (1)
excess of orotic acid in the urine occurring in several metabolic disorders and also resulting from the administration of some drugs; one disorder is an autosomal recessive defect of pyrimidine metabolism due to deficiency of orate phosphoribosyltransferate or orotidine 5'-phosphatae decarboxylase.
Relationships (5)

Relation Types:
diso_​to_​anat : 1
diso_​to_​chem : 1
diso_​to_​diso : 3


Relationships:
associated_​with : 1
isa : 2
location_​of : 1
use : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANATlocation_ofimg Urine C0042036
DISO_to_CHEMassociated_withimg 4-Pyrimidinecarboxylic acid, 1,2,3,6-tetrahydro-2,6-dioxo- C0029300
DISO_to_DISOisaimg Hereditary Orotic Aciduria C0220987
DISO_to_DISOuseimg Orotic aciduria C0268128
DISO_to_DISOisaimg Secondary orotic aciduria C0268129
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanSLC7A79056solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
img OMIM, Score=1000, UMLKSK CUI: C0268128
HumanARG1383arginase 1
img OMIM, Score=1000, UMLKSK CUI: C0268128
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0268128Orotic aciduria0self