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Details
Link-It Detail - Disease - Fructose Metabolism, Inborn Errors
Debug Stats
  • ### Total Build Time: 25 ms 10.101 KB
  • CONCEPT_NAME gt=6 ms Completed: 6 ms rowSize= 366 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 681 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=0 Completed: 0 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=4 ms Completed: 4 ms rowSize= 574 bytes
  • CONCEPT_CHILDREN gt=4 ms Completed: 4 ms rowSize= 1,013 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.874 KB
  • CONCEPT_RELATIONSHIPS gt=5 ms Completed: 5 ms rowSize= 2.188 KB
  • CONCEPT_GENES gt=4 ms Completed: 4 ms rowSize= 1.087 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.168 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Fructose Metabolism, Inborn Errors C0016752
Definition (1)
Inherited abnormalities of fructose metabolism, which include three known autosomal recessive types: hepatic fructokinase deficiency (essential fructosuria), hereditary fructose intolerance, and hereditary fructose-1,6-diphosphatase deficiency. Essential fructosuria is a benign asymptomatic metabolic disorder caused by deficiency in fructokinase, leading to decreased conversion of fructose to fructose-1-phosphate and alimentary hyperfructosemia, but with no clinical dysfunction; may produce a false-positive diabetes test.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Carbohydrate Metabolism, Inborn Errors C0007001
Children (2)
img Fructose Intolerance C0016751
img Fructose-1,6-Diphosphatase Deficiency C0016756
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Carbohydrate Metabolism, Inborn Errors C0007001
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Carbohydrate Metabolism, Inborn Errors C0007001
Relationships (3)

Relation Types:
diso_​to_​diso : 3


Relationships:
none : 1
entry_​version_​of : 1
mapped_​to : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO2img Galactosemias C0016952
DISO_to_DISOmapped_toimg Deficiency of fructokinase C0268160
DISO_to_DISOentry_version_ofimg FRUCTOSE METAB INBORN ERR C0016752
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanALDOB229aldolase B, fructose-bisphosphate
INFERRED, Score=800, UMLKSK CUI: C0016752
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0016752Fructose Metabolism, Inborn Errors0self