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Details
Link-It Detail - Disease - Hyperbilirubinemia, Hereditary
Debug Stats
  • ### Total Build Time: 106 ms 17.492 KB
  • CONCEPT_NAME gt=12 ms Completed: 12 ms rowSize= 358 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 371 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=14 ms Completed: 14 ms rowSize= 561 bytes
  • CONCEPT_CHILDREN gt=10 ms Completed: 10 ms rowSize= 1.407 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.849 KB
  • CONCEPT_RELATIONSHIPS gt=50 ms Completed: 50 ms rowSize= 4.820 KB
  • CONCEPT_GENES gt=16 ms Completed: 16 ms rowSize= 5.781 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.164 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Hyperbilirubinemia, Hereditary C0020435
Definition (1)
Inborn errors of bilirubin metabolism resulting in excessive amounts of bilirubin in the circulating blood, either because of increased bilirubin production or because of delayed clearance of bilirubin from the blood.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Metabolism, Inborn Errors C0025521
Children (3)
img Crigler-Najjar Syndrome C0010324
img Gilbert Disease C0017551
img Jaundice, Chronic Idiopathic C0022350
Ancestral Roots
RootRoot Plus OneDepthParent
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255174img Metabolism, Inborn Errors C0025521
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Metabolism, Inborn Errors C0025521
Relationships (9)

Relation Types:
diso_​to_​chem : 2
diso_​to_​diso : 5
diso_​to_​phen : 2


Relationships:
none : 3
may_​diagnose : 1
permuted_​term_​of : 1
use : 4
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN11img genetic aspects C0017399
DISO_to_CHEM4img Glucuronosyltransferase C0041560
DISO_to_PHEN4img genetic aspects C0017399
DISO_to_CHEMmay_diagnoseimg ICOTEST BILIRUBIN TAB (NOT FOR ORAL USE) C0977719
DISO_to_DISOuseimg Congenital hyperbilirubinaemia NOS C0238077
DISO_to_DISOuseimg Crigler-Najjar Syndrome C0010324
DISO_to_DISOuseimg Gilbert Disease C0017551
DISO_to_DISOpermuted_term_ofimg Hereditary Hyperbilirubinemia C0020435
DISO_to_DISOuseimg Jaundice, Chronic Idiopathic C0022350
Genes (6)

Species:
human : 6
SpeciesGeneGeneIdGene NameEvidence
HumanUGT1A154658UDP glucuronosyltransferase 1 family, polypeptide A1
img GENERIF, Score=1000, Pubmed Id: 18558634, UMLKSK CUI: C0020435
HumanUGT1A654578UDP glucuronosyltransferase 1 family, polypeptide A6
INFERRED, Score=800, UMLKSK CUI: C0020435
HumanUGT1A754577UDP glucuronosyltransferase 1 family, polypeptide A7
INFERRED, Score=800, UMLKSK CUI: C0020435
HumanSLCO1B110599solute carrier organic anion transporter family, member 1B1
img GENERIF, Score=1000, Pubmed Id: 18558634, UMLKSK CUI: C0020435
HumanG6PD2539glucose-6-phosphate dehydrogenase
img GENERIF, Score=1000, Pubmed Id: 18558634, UMLKSK CUI: C0020435
HumanABCC21244ATP-binding cassette, sub-family C (CFTR/MRP), member 2
INFERRED, Score=800, UMLKSK CUI: C0020435
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0020435Hyperbilirubinemia, Hereditary0self