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Details
Link-It Detail - Disease - Wolman Disease
Debug Stats
  • ### Total Build Time: 26 ms 16.912 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 326 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 344 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= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=3 ms Completed: 3 ms rowSize= 1,012 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=2 ms Completed: 2 ms rowSize= 6.821 KB
  • CONCEPT_RELATIONSHIPS gt=12 ms Completed: 12 ms rowSize= 5.381 KB
  • CONCEPT_GENES gt=3 ms Completed: 3 ms rowSize= 1.700 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.148 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Wolman Disease C0043208
Definition (1)
severe infantile form of inherited lysosomal lipid storage disease due to deficiency of acid lipase; results in accumulation of neutral lipids, particularly cholesterol esters, within cells.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Cholesterol Ester Storage Disease C0008384
img Infant, Newborn, Diseases C0021290
Ancestral Roots
RootRoot Plus OneDepthParent
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255176img Cholesterol Ester Storage Disease C0008384
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501237img Cholesterol Ester Storage Disease C0008384
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255177img Cholesterol Ester Storage Disease C0008384
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501236img Cholesterol Ester Storage Disease C0008384
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Infant, Newborn, Diseases C00212903img Infant, Newborn, Diseases C0021290
Relationships (9)

Relation Types:
diso_​to_​chem : 3
diso_​to_​diso : 4
diso_​to_​gene : 1
diso_​to_​phen : 1


Relationships:
none : 2
associated_​with : 3
isa : 1
mapped_​to : 1
permuted_​term_​of : 1
related_​to : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN6img genetic aspects C0017399
DISO_to_CHEM5img Sterol Esterase C0008385
DISO_to_CHEMassociated_withimg Lipase C0023764
DISO_to_CHEMassociated_withimg Sterol Esterase C0008385
DISO_to_DISOassociated_withimg 270 CONGENITAL DEFICIENCIES C0333006
DISO_to_DISOmapped_toimg Acid cholesteryl ester hydrolase deficiency, type 2 C2936797
DISO_to_DISOisaimg Cholesterol Ester Storage Disease C0008384
DISO_to_DISOpermuted_term_ofimg Wolman Disease C0043208
DISO_to_GENErelated_toimg LIPA gene C1416865
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanLIPA3988lipase A, lysosomal acid, cholesterol esterase
img GAD, Score=1000, Pubmed Id: 7773732, UMLKSK CUI: C0043208
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0043208Wolman Disease0self