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Details
Link-It Detail - Disease - Hyperlipoproteinemia Type I
Debug Stats
  • ### Total Build Time: 183 ms 25.595 KB
  • CONCEPT_NAME gt=17 ms Completed: 17 ms rowSize= 352 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
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  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
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  • CONCEPT_GENES gt=17 ms Completed: 17 ms rowSize= 7.087 KB
  • CONCEPT_XREFS gt=10 ms Completed: 10 ms rowSize= 1.161 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Hyperlipoproteinemia Type I C0023817
Definition (1)
A genetic disorder of lipoprotein metabolism caused by mutations in the LPL and apolipoprotein (apo) C-II genes. It is characterized by increased levels of chylomicrons and triglycerides in the blood.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Hyperlipoproteinemias C0020476
img Lipid Metabolism, Inborn Errors C0023772
Ancestral Roots
RootRoot Plus OneDepthParent
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255177img Hyperlipoproteinemias C0020476
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 (25)

Relation Types:
diso_​to_​anat : 1
diso_​to_​chem : 4
diso_​to_​diso : 17
diso_​to_​phen : 2
diso_​to_​phys : 1


Relationships:
none : 8
alias_​of : 1
associated_​with : 2
classifies : 2
isa : 2
mapped_​to : 8
use : 2
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN19img genetic aspects C0017399
DISO_to_ANAT16img In Blood C0005768
DISO_to_PHEN15img genetic aspects C0017399
DISO_to_CHEM11img LIPOPROTEIN LIPASE C0023816
DISO_to_CHEM11img Lipoprotein Lipase C0023816
DISO_to_DISO8img Complication Aspects C1171258
DISO_to_PHYS6img Mutation C0026882
DISO_to_CHEM5img Chylomicrons C0008731
DISO_to_CHEMassociated_withimg LIPOPROTEIN LIPASE C0023816
DISO_to_DISOassociated_withimg 270 CONGENITAL DEFICIENCIES C0333006
DISO_to_DISOisaimg Anapolipoproteinaemia C0268199
DISO_to_DISOmapped_toimg Chylomicronemia syndrome C1274228
DISO_to_DISOclassifiesimg Disease of lipid metabolism C0154251
DISO_to_DISOmapped_toimg Exogenous hyperlipaemia C1268581
DISO_to_DISOmapped_toimg Familial hyperchylomicronemia syndrome C2931862
DISO_to_DISOisaimg Familial lipoprotein lipase deficiency with type V phenotype C1275124
DISO_to_DISOmapped_toimg Hyperlipoproteinemia Type I C0023817
DISO_to_DISOalias_ofimg Hyperlipoproteinemia Type Ia C1706413
DISO_to_DISOmapped_toimg Hyperlipoproteinemia Type V C0020481
DISO_to_DISOmapped_toimg Lipaemia retinalis C0339477
DISO_to_DISOclassifiesimg Lipid Metabolism Disorders C0154251
DISO_to_DISOmapped_toimg Primary acquired chylomicronemia C1304251
DISO_to_DISOmapped_toimg Primary chylomicronemia C1274175
DISO_to_DISOuseimg familial fat induced hyperlipemia C0598426
DISO_to_DISOuseimg idiopathic hyperlipemia C0598427
Genes (3)

Species:
human : 3
SpeciesGeneGeneIdGene NameEvidence
HumanLMF164788lipase maturation factor 1
img OMIM, Score=833, UMLKSK CUI: C0023817
img OMIM, Score=1000, UMLKSK CUI: C0023817
HumanLPL4023lipoprotein lipase
img OMIM, Score=1000, UMLKSK CUI: C0023817
img GENERIF, Score=734, Pubmed Id: 16460718, UMLKSK CUI: C0023817
img OMIM, Score=1000, UMLKSK CUI: C0023817
img GENERIF, Score=1000, Pubmed Id: 18275685, UMLKSK CUI: C0023817
img GENERIF, Score=1000, Pubmed Id: 17706445, UMLKSK CUI: C0023817
img GENERIF, Score=913, Pubmed Id: 12655575, UMLKSK CUI: C0023817
HumanAPOE348apolipoprotein E
img GAD, Score=1000, Pubmed Id: 1998645, UMLKSK CUI: C0023817
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0023817Hyperlipoproteinemia Type I0self