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Details
Link-It Detail - Disease - Cholesterol Ester Storage Disease
Debug Stats
  • ### Total Build Time: 91 ms 17.250 KB
  • CONCEPT_NAME gt=5 ms Completed: 5 ms rowSize= 364 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 389 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=10 ms Completed: 10 ms rowSize= 989 bytes
  • CONCEPT_CHILDREN gt=8 ms Completed: 8 ms rowSize= 552 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=40 ms Completed: 40 ms rowSize= 6.710 KB
  • CONCEPT_RELATIONSHIPS gt=17 ms Completed: 17 ms rowSize= 4.320 KB
  • CONCEPT_GENES gt=6 ms Completed: 6 ms rowSize= 2.602 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.167 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Cholesterol Ester Storage Disease C0008384
Definition (1)
An autosomal recessive disorder caused by mutations in the gene for acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Lipidoses C0023794
img Lysosomal Storage Diseases C0085078
Children (1)
img Wolman Disease C0043208
Ancestral Roots
RootRoot Plus OneDepthParent
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Lipidoses C0023794
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501236img Lipidoses C0023794
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255176img Lipidoses C0023794
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Lysosomal Storage Diseases C0085078
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Lysosomal Storage Diseases C0085078
Relationships (7)

Relation Types:
diso_​to_​chem : 2
diso_​to_​diso : 2
diso_​to_​gene : 2
diso_​to_​phen : 1


Relationships:
none : 3
associated_​with : 1
entry_​version_​of : 1
related_​to : 2
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN7img genetic aspects C0017399
DISO_to_CHEM4img Sterol Esterase C0008385
DISO_to_DISO4img Complication Aspects C1171258
DISO_to_CHEMassociated_withimg Cholesterol Esters C0008387
DISO_to_DISOentry_version_ofimg Cholesterol Ester Storage Disease C0008384
DISO_to_GENErelated_toimg LIPA, 1-BP INS, 634T C3150745
DISO_to_GENErelated_toimg LIPA, LEU179PRO C3150742
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanLIPA3988lipase A, lysosomal acid, cholesterol esterase
img GAD, Score=1000, Pubmed Id: 7773732, UMLKSK CUI: C0008384
img GAD, Score=1000, Pubmed Id: 9365051, UMLKSK CUI: C0008384
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0008384Cholesterol Ester Storage Disease0self