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Details
Link-It Detail - Disease - Hypobetalipoproteinemia, Familial, Apolipoprotein B
Debug Stats
  • ### Total Build Time: 54 ms 8.960 KB
  • CONCEPT_NAME gt=7 ms Completed: 7 ms rowSize= 400 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 437 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=7 ms Completed: 7 ms rowSize= 560 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=6 ms Completed: 6 ms rowSize= 2.847 KB
  • CONCEPT_RELATIONSHIPS gt=21 ms Completed: 21 ms rowSize= 3.302 KB
  • CONCEPT_GENES gt=4 ms Completed: 4 ms rowSize= 45 bytes
  • CONCEPT_XREFS gt=7 ms Completed: 7 ms rowSize= 1.185 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Hypobetalipoproteinemia, Familial, Apolipoprotein B C1704299
Definition (1)
An autosomal dominant disorder of lipid metabolism. It is caused by mutations of APOLIPOPROTEINS B, main components of CHYLOMICRONS and BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include abnormally low LDL, normal triglyceride level, and dietary fat malabsorption.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Hypobetalipoproteinemias C0020597
Ancestral Roots
RootRoot Plus OneDepthParent
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255177img Hypobetalipoproteinemias C0020597
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501237img Hypobetalipoproteinemias C0020597
Relationships (5)

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


Relationships:
none : 2
associated_​with : 2
entry_​version_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN14img genetic aspects C0017399
DISO_to_CHEM10img Apolipoproteins B C0003593
DISO_to_CHEMassociated_withimg Lipoproteins, LDL C0023823
DISO_to_DISOassociated_withimg 270 CONGENITAL DEFICIENCIES C0333006
DISO_to_DISOentry_version_ofimg Hypobetalipoproteinemia, Familial, Apolipoprotein B C1704299
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1704299Hypobetalipoproteinemia, Familial, Apolipoprotein B0self