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Details
Link-It Detail - Jax Mouse Phenotype - sphingomyelinosis
Debug Stats
  • ### Total Build Time: 30 ms 8.451 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 362 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 312 bytes
  • CONCEPT_SYNONYM gt=0 Completed: 0 ms rowSize= 174 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=5 ms Completed: 5 ms rowSize= 1.040 KB
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=19 ms Completed: 19 ms rowSize= 2.933 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=3 ms Completed: 3 ms rowSize= 2.343 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.155 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
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Jax Mouse Phenotype (1)
sphingomyelinosis MP:0009589
Definition (1)
the abnormal accumulation of sphingomyelin in the plasma membrane of cells of the nervous tissue, liver and spleen, usually due to sphingomyelinase deficiency
Synonyms (1)
"sphingolipidosis" EXACT
Parents (2)
img abnormal sphingomyelin level MP:0009823
img abnormal plasma membrane sphingolipid content MP:0009587
Ancestral Roots
RootRoot Plus OneDepthParent
img mammalian phenotype MP:0000001img homeostasis/metabolism phenotype MP:00053768img abnormal sphingomyelin level MP:0009823
img mammalian phenotype MP:0000001img cellular phenotype MP:00053846img abnormal plasma membrane sphingolipid content MP:0009587
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanNPC14864Niemann-Pick disease, type C1
img Jax MP, Pubmed Id: 6315811, MOUSE PHENOTYPE ID: MGI:1097712
img Jax MP, Pubmed Id: 22048958, MOUSE PHENOTYPE ID: MGI:1097712
XRefs (1)

XRef Types:
mp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
MPimg MP:0009589sphingomyelinosis0self