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Details
Link-It Detail - Disease - Lipodystrophy, Congenital Generalized
Debug Stats
  • ### Total Build Time: 95 ms 22.900 KB
  • CONCEPT_NAME gt=8 ms Completed: 8 ms rowSize= 436 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 318 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=15 ms Completed: 15 ms rowSize= 998 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 5.414 KB
  • CONCEPT_RELATIONSHIPS gt=42 ms Completed: 42 ms rowSize= 3.769 KB
  • CONCEPT_GENES gt=17 ms Completed: 17 ms rowSize= 10.617 KB
  • CONCEPT_XREFS gt=12 ms Completed: 12 ms rowSize= 1.171 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Lipodystrophy, Congenital Generalized C0221032
Familial generalized lipodystrophy
Definition (1)
Congenital disorders, usually autosomal recessive, characterized by severe generalized lack of ADIPOSE TISSUE, extreme INSULIN RESISTANCE, and HYPERTRIGLYCERIDEMIA.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Lipodystrophy C0023787
img Lipid Metabolism, Inborn Errors C0023772
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
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Lipid Metabolism, Inborn Errors C0023772
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Lipid Metabolism, Inborn Errors C0023772
Relationships (6)

Relation Types:
diso_​to_​anat : 1
diso_​to_​chem : 1
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_PHEN32img genetic aspects C0017399
DISO_to_DISO14img Complication Aspects C1171258
DISO_to_CHEM13img G Protein gamma Subunit C0887849
DISO_to_ANAT6img In Blood C0005768
DISO_to_PHYS5img Mutation C0026882
DISO_to_DISOpermuted_term_ofimg Familial generalized lipodystrophy C0221032
Genes (4)

Species:
human : 4
SpeciesGeneGeneIdGene NameEvidence
HumanBSCL226580Berardinelli-Seip congenital lipodystrophy 2 (seipin)
img GENERIF, Score=734, Pubmed Id: 14602785, UMLKSK CUI: C0221032
img GENERIF, Score=1000, Pubmed Id: 18698612, UMLKSK CUI: C0221032
img GENERIF, Score=901, Pubmed Id: 15732094, UMLKSK CUI: C0221032
img GENERIF, Score=1000, Pubmed Id: 16435205, UMLKSK CUI: C0221032
img GENERIF, Score=1000, Pubmed Id: 15181077, UMLKSK CUI: C0221032
HumanAGPAT2105551-acylglycerol-3-phosphate O-acyltransferase 2
img GENERIF, Score=1000, Pubmed Id: 18698612, UMLKSK CUI: C0221032
img GENERIF, Score=1000, Pubmed Id: 15181077, UMLKSK CUI: C0221032
img GENERIF, Score=1000, Pubmed Id: 11967537, UMLKSK CUI: C0221032
img GENERIF, Score=1000, Pubmed Id: 16435205, UMLKSK CUI: C0221032
img GENERIF, Score=1000, Pubmed Id: 15629135, UMLKSK CUI: C0221032
HumanZMPSTE2410269zinc metallopeptidase STE24
img OMIM, Score=1000, UMLKSK CUI: C0221032
HumanCAV1857caveolin 1, caveolae protein, 22kDa
img GENERIF, Score=1000, Pubmed Id: 18698612, UMLKSK CUI: C0221032
img GENERIF, Score=710, Pubmed Id: 18211975, UMLKSK CUI: C0221032
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0221032Lipodystrophy, Congenital Generalized0self