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Details
Link-It Detail - Disease - Niemann-Pick Disease, Type C
Debug Stats
  • ### Total Build Time: 138 ms 22.832 KB
  • CONCEPT_NAME gt=12 ms Completed: 12 ms rowSize= 354 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 466 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= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=12 ms Completed: 12 ms rowSize= 557 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=29 ms Completed: 29 ms rowSize= 6.697 KB
  • CONCEPT_RELATIONSHIPS gt=73 ms Completed: 73 ms rowSize= 8.665 KB
  • CONCEPT_GENES gt=8 ms Completed: 8 ms rowSize= 4.744 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.162 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Niemann-Pick Disease, Type C C0220756
Definition (1)
An autosomal recessive inherited lysosomal storage disease caused by mutations in the NPC1 and NPC2 genes. It is characterized by progressive neurologic deterioration manifested with ataxia, dementia, seizures, and dystonia. Other signs and symptoms include hepatosplenomegaly, jaundice, and respiratory failure.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Niemann-Pick Diseases C0028064
Ancestral Roots
RootRoot Plus OneDepthParent
img Hemic and Lymphatic Diseases C0018981img Lymphatic Diseases C00242286img Niemann-Pick Diseases C0028064
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255177img Niemann-Pick Diseases C0028064
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255178img Niemann-Pick Diseases C0028064
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501238img Niemann-Pick Diseases C0028064
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076829img Niemann-Pick Diseases C0028064
Relationships (19)

Relation Types:
diso_​to_​anat : 2
diso_​to_​chem : 9
diso_​to_​diso : 7
diso_​to_​phen : 1


Relationships:
none : 11
associated_​with : 3
entry_​version_​of : 1
isa : 3
mapped_​to : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN68img genetic aspects C0017399
DISO_to_CHEM29img Cholesterol C0008377
DISO_to_CHEM19img Carrier Protein C0007292
DISO_to_CHEM17img Proteins C0033684
DISO_to_CHEM16img Cell Surface Glycoprotein C0025248
DISO_to_DISO16img Complication Aspects C1171258
DISO_to_CHEM14img Enzyme Inhibitors C0014432
DISO_to_CHEM13img 1 Deoxynojirimycin C0089267
DISO_to_ANAT9img Lysosomes C0024369
DISO_to_CHEM9img Glycoproteins C0017968
DISO_to_ANAT8img Brain C0006104
DISO_to_CHEMassociated_withimg SPHINGOMYELINASE C0037903
DISO_to_CHEMassociated_withimg Sphingomyelin Phosphodiesterase C0037903
DISO_to_DISOassociated_withimg 270 CONGENITAL DEFICIENCIES C0333006
DISO_to_DISOmapped_toimg NIEMANN-PICK DISEASE, TYPE C2 C1843366
DISO_to_DISOentry_version_ofimg Niemann-Pick Disease, Type C C0220756
DISO_to_DISOisaimg Niemann-Pick disease, type C, acute form C0268244
DISO_to_DISOisaimg Niemann-Pick disease, type C, chronic form C0268246
DISO_to_DISOisaimg Niemann-Pick disease, type C, subacute form C0268245
Genes (4)

Species:
human : 4
SpeciesGeneGeneIdGene NameEvidence
HumanTLR47099toll-like receptor 4
img GENERIF, Score=780, Pubmed Id: 17314284, UMLKSK CUI: C0220756
HumanNPC14864Niemann-Pick disease, type C1
img GAD, Score=928, Pubmed Id: 11479732, UMLKSK CUI: C0220756
HumanGBA2629glucosidase, beta, acid
img GENERIF, Score=1000, Pubmed Id: 14757764, UMLKSK CUI: C0220756
HumanABCA119ATP-binding cassette, sub-family A (ABC1), member 1
img GENERIF, Score=1000, Pubmed Id: 12813037, UMLKSK CUI: C0220756
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0220756Niemann-Pick Disease, Type C0self