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Details
Link-It Detail - Disease - Saethre-Chotzen Syndrome
Debug Stats
  • ### Total Build Time: 15 ms 5.448 KB
  • CONCEPT_NAME gt=8 ms Completed: 8 ms rowSize= 346 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 434 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=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=4 ms Completed: 4 ms rowSize= 3.354 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.158 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Saethre-Chotzen Syndrome C0175699
Definition (1)
A rare autosomal dominant syndrome caused by mutations in the TWIST1 gene. It is characterized by premature closure of skull bones resulting in abnormally shaped head, high forehead, hypertelorism, and facial asymmetry. It may be associated with fusion of certain fingers or toes.
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanTWIST17291twist basic helix-loop-helix transcription factor 1
img GENERIF, Score=1000, Pubmed Id: 15735646, UMLKSK CUI: C0175699
img GENERIF, Score=923, Pubmed Id: 12015302, UMLKSK CUI: C0175699
HumanFGFR22263fibroblast growth factor receptor 2
img GENERIF, Score=1000, Pubmed Id: 15829502, UMLKSK CUI: C0175699
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0175699Saethre-Chotzen Syndrome0self