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Details
Link-It Detail - Disease - Pfeiffer Syndrome
Debug Stats
  • ### Total Build Time: 23 ms 6.272 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 332 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 438 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= 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=10 ms Completed: 10 ms rowSize= 4.195 KB
  • CONCEPT_XREFS gt=7 ms Completed: 7 ms rowSize= 1.151 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Pfeiffer Syndrome C0220658
Definition (1)
An autosomal dominant inherited type of acrocephalosyndactyly caused by mutations in the FGFR1 or FGFR2 genes. It is characterized by early closure of the sutures between the skull bones, bulging and wide-set eyes, broad thumbs, big toes, and partial syndactyly in the hands and toes.
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanFGFR22263fibroblast growth factor receptor 2
img GENERIF, Score=1000, Pubmed Id: 16418739, UMLKSK CUI: C0220658
img GENERIF, Score=1000, Pubmed Id: 18049087, UMLKSK CUI: C0220658
img GENERIF, Score=1000, Pubmed Id: 11556600, UMLKSK CUI: C0220658
img GENERIF, Score=1000, Pubmed Id: 18671283, UMLKSK CUI: C0220658
img GAD, Score=1000, Pubmed Id: 9150725, UMLKSK CUI: C0220658
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0220658Pfeiffer Syndrome0self