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Details
Link-It Detail - Disease - Niemann-Pick Disease, Type C
Debug Stats
  • ### Total Build Time: 163 ms 22.993 KB
  • CONCEPT_NAME gt=8 ms Completed: 8 ms rowSize= 354 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 629 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=17 ms Completed: 17 ms rowSize= 557 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=66 ms Completed: 66 ms rowSize= 6.697 KB
  • CONCEPT_RELATIONSHIPS gt=41 ms Completed: 41 ms rowSize= 8.665 KB
  • CONCEPT_GENES gt=14 ms Completed: 14 ms rowSize= 4.746 KB
  • CONCEPT_XREFS gt=15 ms Completed: 15 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 lipid storage disorder that is characterized by accumulation of CHOLESTEROL and SPHINGOMYELINS in cells of the VISCERA and the CENTRAL NERVOUS SYSTEM. Type C (or C1) and type D are allelic disorders caused by mutation of gene (NPC1) encoding a protein that mediate intracellular cholesterol transport from lysosomes. Clinical signs include hepatosplenomegaly and chronic neurological symptoms. Type D is a variant in people with a Nova Scotia ancestry.
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 Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501238img Niemann-Pick Diseases C0028064
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255178img Niemann-Pick Diseases C0028064
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255177img 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