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Details
Link-It Detail - Disease - Acquired partial lipodystrophy
Debug Stats
  • ### Total Build Time: 107 ms 15.504 KB
  • CONCEPT_NAME gt=5 ms Completed: 5 ms rowSize= 358 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_DEFINITION gt=NONE 0 Completed: 0 ms rowSize= 0 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= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 7 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=82 ms Completed: 82 ms rowSize= 7.839 KB
  • CONCEPT_GENES gt=12 ms Completed: 12 ms rowSize= 6.081 KB
  • CONCEPT_XREFS gt=6 ms Completed: 6 ms rowSize= 1.164 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Acquired partial lipodystrophy C0220989
Relationships (18)

Relation Types:
diso_​to_​diso : 18


Relationships:
expanded_​form_​of : 1
isa : 1
manifestation_​of : 16
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOmanifestation_ofimg 'Progeroid' expression C1837509
DISO_to_DISOexpanded_form_ofimg Acquired partial lipodystrophy C0220989
DISO_to_DISOmanifestation_ofimg Association with autoimmune disease C3151350
DISO_to_DISOmanifestation_ofimg Diabetes Mellitus C0011849
DISO_to_DISOmanifestation_ofimg Dyslipidaemia C0242339
DISO_to_DISOmanifestation_ofimg Dyslipidemias C0242339
DISO_to_DISOmanifestation_ofimg Hirsutism C0019572
DISO_to_DISOisaimg Lipodystrophy, partial, with Reiger anomaly, short stature, and insulinopenic diabetes mellitus C0342279
DISO_to_DISOmanifestation_ofimg Loss of subcutaneous adipose tissue from face C1837507
DISO_to_DISOmanifestation_ofimg Loss of subcutaneous adipose tissue from face, progressive C1837510
DISO_to_DISOmanifestation_ofimg Loss of subcutaneous adipose tissue from upper limbs and trunk C1837511
DISO_to_DISOmanifestation_ofimg More common in females (male:female ratio 4:1) C1837513
DISO_to_DISOmanifestation_ofimg No family history, de novo mutations C3277295
DISO_to_DISOmanifestation_ofimg Onset in first or second decade C1866641
DISO_to_DISOmanifestation_ofimg Polycystic Ovary Syndrome C0032460
DISO_to_DISOmanifestation_ofimg Sunken face C1837508
DISO_to_DISOmanifestation_ofimg Susceptibility conferred by mutation in the lamin B2 gene (LMNB2, 150341.0001) C3277294
DISO_to_DISOmanifestation_ofimg Variable phenotype C1837514
Genes (3)

Species:
human : 3
SpeciesGeneGeneIdGene NameEvidence
HumanLMNB284823lamin B2
img GENERIF, Score=1000, Pubmed Id: 16826530, UMLKSK CUI: C0220989
HumanPPARG5468peroxisome proliferator-activated receptor gamma
img GENERIF, Score=1000, Pubmed Id: 17356052, UMLKSK CUI: C0220989
img OMIM, Score=1000, UMLKSK CUI: C0220989
HumanLMNA4000lamin A/C
img GENERIF, Score=827, Pubmed Id: 12138353, UMLKSK CUI: C0220989
img GENERIF, Score=660, Pubmed Id: 18396274, UMLKSK CUI: C0220989
img OMIM, Score=1000, UMLKSK CUI: C0220989
img OMIM, Score=1000, UMLKSK CUI: C0220989
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0220989Acquired partial lipodystrophy0self