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Details
Link-It Detail - Disease - MPS III A
Debug Stats
  • ### Total Build Time: 7 ms 5.079 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 316 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 373 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=2 ms Completed: 2 ms rowSize= 3.089 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.144 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
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Disease (1)
MPS III A C0086647
Definition (1)
A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme heparan sulfate sulfatase. It is characterized by behavioral changes, sleep disturbances, mental developmental delays and seizures.
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanSGSH6448N-sulfoglucosamine sulfohydrolase
img OMIM, Score=1000, UMLKSK CUI: C0086647
img GENERIF, Score=1000, Pubmed Id: 11668611, UMLKSK CUI: C0086647
HumanNAGLU4669N-acetylglucosaminidase, alpha
img GENERIF, Score=1000, Pubmed Id: 11668611, UMLKSK CUI: C0086647
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0086647MPS III A0self