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Details
Link-It Detail - Disease - Lipodystrophy, Familial Partial
Debug Stats
  • ### Total Build Time: 64 ms 15.837 KB
  • CONCEPT_NAME gt=10 ms Completed: 10 ms rowSize= 360 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 523 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=2 ms Completed: 2 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=9 ms Completed: 9 ms rowSize= 549 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=8 ms Completed: 8 ms rowSize= 2.787 KB
  • CONCEPT_RELATIONSHIPS gt=19 ms Completed: 19 ms rowSize= 3.575 KB
  • CONCEPT_GENES gt=7 ms Completed: 7 ms rowSize= 6.692 KB
  • CONCEPT_XREFS gt=8 ms Completed: 8 ms rowSize= 1.165 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Lipodystrophy, Familial Partial C0271694
Definition (1)
Inherited conditions characterized by the partial loss of ADIPOSE TISSUE, either confined to the extremities with normal or increased fat deposits on the face, neck and trunk (type 1), or confined to the loss of SUBCUTANEOUS FAT from the limbs and trunk (type 2). Type 3 is associated with mutation in the gene encoding PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR GAMMA.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Lipodystrophy C0023787
Ancestral Roots
RootRoot Plus OneDepthParent
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372745img Lipodystrophy C0023787
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Lipodystrophy C0023787
Relationships (6)

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


Relationships:
none : 5
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN35img genetic aspects C0017399
DISO_to_CHEM17img Lamin Type A C0125258
DISO_to_DISO12img Complication Aspects C1171258
DISO_to_CHEM8img Thiazolidinediones C1257987
DISO_to_PHYS8img Mutation C0026882
DISO_to_DISOpermuted_term_ofimg Familial partial lipodystrophy C0271694
Genes (3)

Species:
human : 3
SpeciesGeneGeneIdGene NameEvidence
HumanRARB5915retinoic acid receptor, beta
img GENERIF, Score=1000, Pubmed Id: 17556535, UMLKSK CUI: C0271694
HumanPPARG5468peroxisome proliferator-activated receptor gamma
img GENERIF, Score=884, Pubmed Id: 17312272, UMLKSK CUI: C0271694
img GENERIF, Score=1000, Pubmed Id: 17766367, UMLKSK CUI: C0271694
HumanLMNA4000lamin A/C
img GENERIF, Score=1000, Pubmed Id: 18041775, UMLKSK CUI: C0271694
img GENERIF, Score=756, Pubmed Id: 14597414, UMLKSK CUI: C0271694
img GENERIF, Score=1000, Pubmed Id: 12015247, UMLKSK CUI: C0271694
img GENERIF, Score=1000, Pubmed Id: 15298354, UMLKSK CUI: C0271694
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0271694Lipodystrophy, Familial Partial0self