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Details
Link-It Detail - Disease - Farber Lipogranulomatosis
Debug Stats
  • ### Total Build Time: 66 ms 11.692 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 348 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 387 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=5 ms Completed: 5 ms rowSize= 552 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=34 ms Completed: 34 ms rowSize= 5.396 KB
  • CONCEPT_RELATIONSHIPS gt=17 ms Completed: 17 ms rowSize= 3.617 KB
  • CONCEPT_GENES gt=3 ms Completed: 3 ms rowSize= 45 bytes
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.159 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Farber Lipogranulomatosis C0268255
Definition (1)
A sphingolipidosis subtype that is characterized by the histological appearance of granulomatous deposits in tissues. It results from the accumulation of CERAMIDES in various tissues due to an inherited deficiency of ACID CERAMIDASE.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Sphingolipidoses C0037899
Ancestral Roots
RootRoot Plus OneDepthParent
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255176img Sphingolipidoses C0037899
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501237img Sphingolipidoses C0037899
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255177img Sphingolipidoses C0037899
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076828img Sphingolipidoses C0037899
Relationships (6)

Relation Types:
diso_​to_​chem : 3
diso_​to_​diso : 3


Relationships:
none : 1
associated_​with : 3
mapped_​to : 1
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_CHEM5img Acid Ceramidase C2350443
DISO_to_CHEMassociated_withimg Ceramidase C0109060
DISO_to_CHEMassociated_withimg Ceramidases C0109060
DISO_to_DISOassociated_withimg 270 CONGENITAL DEFICIENCIES C0333006
DISO_to_DISOpermuted_term_ofimg Farber Lipogranulomatosis C0268255
DISO_to_DISOmapped_toimg Farber's disease C2936785
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0268255Farber Lipogranulomatosis0self