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Details
Link-It Detail - Disease - Deficiencies, N-Acetylglucosamine-6-Sulfatase
Debug Stats
  • ### Total Build Time: 27 ms 4.348 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 388 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 369 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=4 ms Completed: 4 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=9 ms Completed: 9 ms rowSize= 2.256 KB
  • CONCEPT_XREFS gt=9 ms Completed: 9 ms rowSize= 1.179 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Deficiencies, N-Acetylglucosamine-6-Sulfatase C0086650
Definition (1)
A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylglucosamine-6-sulfatase. It is characterized by behavioral changes, sleep disturbances and mental developmental delays.
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanGNS2799glucosamine (N-acetyl)-6-sulfatase
img GENERIF, Score=722, Pubmed Id: 12624138, UMLKSK CUI: C0086650
img GENERIF, Score=923, Pubmed Id: 17998446, UMLKSK CUI: C0086650
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0086650Deficiencies, N-Acetylglucosamine-6-Sulfatase0self