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Details
Link-It Detail - Disease - Hyperoxaluria, Primary
Debug Stats
  • ### Total Build Time: 85 ms 18.610 KB
  • CONCEPT_NAME gt=10 ms Completed: 10 ms rowSize= 342 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 421 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
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  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=16 ms Completed: 16 ms rowSize= 1,005 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=14 ms Completed: 14 ms rowSize= 5.448 KB
  • CONCEPT_RELATIONSHIPS gt=27 ms Completed: 27 ms rowSize= 5.447 KB
  • CONCEPT_GENES gt=15 ms Completed: 15 ms rowSize= 4.613 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.156 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
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Disease (1)
Hyperoxaluria, Primary C0020501
Definition (1)
either of two genetic disorders characterized by urinary excretion of large amounts of oxalate, with nephrolithiasis, nephrocalcinosis, early onset of renal failure, and often a generalized deposit of calcium oxalate, resulting from a defect in glyoxalate metabolism.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Carbohydrate Metabolism, Inborn Errors C0007001
img Hyperoxaluria C0020500
Ancestral Roots
RootRoot Plus OneDepthParent
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Carbohydrate Metabolism, Inborn Errors C0007001
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Carbohydrate Metabolism, Inborn Errors C0007001
img Female Urogenital Diseases and Pregnancy Complications C1720765img Female Urogenital Diseases C17208876img Hyperoxaluria C0020500
img Male Urogenital Diseases C1720894img Urologic Diseases C00420755img Hyperoxaluria C0020500
Relationships (11)

Relation Types:
diso_​to_​chem : 2
diso_​to_​diso : 7
diso_​to_​phen : 2


Relationships:
none : 7
mapped_​to : 2
permuted_​term_​of : 1
use : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO38img Complication Aspects C1171258
DISO_to_PHEN37img genetic aspects C0017399
DISO_to_PHEN36img genetic aspects C0017399
DISO_to_DISO26img Complication Aspects C1171258
DISO_to_CHEM19img Transaminases C0002594
DISO_to_CHEM16img Transaminases C0002594
DISO_to_DISO16img Kidney Failure, Chronic C0022661
DISO_to_DISOpermuted_term_ofimg Congenital oxaluria C0020501
DISO_to_DISOuseimg Oxalosis C1298681
DISO_to_DISOmapped_toimg Primary hyperoxaluria type 2 C0268165
DISO_to_DISOmapped_toimg Primary hyperoxaluria, type I C0268164
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanGRHPR9380glyoxylate reductase/hydroxypyruvate reductase
img GENERIF, Score=861, Pubmed Id: 17510093, UMLKSK CUI: C0020501
HumanAGXT189alanine-glyoxylate aminotransferase
img GENERIF, Score=1000, Pubmed Id: 17460142, UMLKSK CUI: C0020501
img GENERIF, Score=673, Pubmed Id: 18782763, UMLKSK CUI: C0020501
img GENERIF, Score=861, Pubmed Id: 16912707, UMLKSK CUI: C0020501
img GENERIF, Score=861, Pubmed Id: 15365967, UMLKSK CUI: C0020501
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0020501Hyperoxaluria, Primary0self