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Details
Link-It Detail - Disease - Antley Bixler Syndrome Like Phenotype With Disordered Steroidogenesis
Debug Stats
  • ### Total Build Time: 20 ms 7.591 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 436 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 379 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=2 ms Completed: 2 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=8 ms Completed: 8 ms rowSize= 5.419 KB
  • CONCEPT_XREFS gt=4 ms Completed: 4 ms rowSize= 1.202 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Antley Bixler Syndrome Like Phenotype With Disordered Steroidogenesis C1860042
Definition (1)
Autosomally recessive Antley-Bixler Syndrome with ambiguous genitalia and disturbed steroidogenesis, and associated with mutations in the POR gene, encoding P450 (cytochrome) oxidoreductase (NADPH-FERRIHEMOPROTEIN REDUCTASE).
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanPOR5447P450 (cytochrome) oxidoreductase
img OMIM, Score=1000, UMLKSK CUI: C1860042
img GENERIF, Score=1000, Pubmed Id: 18559916, UMLKSK CUI: C1860042
img GENERIF, Score=1000, Pubmed Id: 16467261, UMLKSK CUI: C1860042
img GENERIF, Score=1000, Pubmed Id: 18259105, UMLKSK CUI: C1860042
img OMIM, Score=716, UMLKSK CUI: C1860042
img GENERIF, Score=1000, Pubmed Id: 18630181, UMLKSK CUI: C1860042
img GENERIF, Score=1000, Pubmed Id: 15666840, UMLKSK CUI: C1860042
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1860042Antley Bixler Syndrome Like Phenotype With Disordered Steroidogenesis0self