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Details
Link-It Detail - Disease - Hypobetalipoproteinemias
Debug Stats
  • ### Total Build Time: 95 ms 16.923 KB
  • CONCEPT_NAME gt=7 ms Completed: 7 ms rowSize= 346 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 605 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=13 ms Completed: 13 ms rowSize= 556 bytes
  • CONCEPT_CHILDREN gt=13 ms Completed: 13 ms rowSize= 1.003 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=24 ms Completed: 24 ms rowSize= 2.839 KB
  • CONCEPT_RELATIONSHIPS gt=18 ms Completed: 18 ms rowSize= 4.478 KB
  • CONCEPT_GENES gt=15 ms Completed: 15 ms rowSize= 5.763 KB
  • CONCEPT_XREFS gt=4 ms Completed: 4 ms rowSize= 1.158 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Hypobetalipoproteinemias C0020597
Definition (1)
Conditions with abnormally low levels of BETA-LIPOPROTEINS (low density lipoproteins or LDL) in the blood. It is defined as LDL values equal to or less than the 5th percentile for the population. They include the autosomal dominant form involving mutation of the APOLIPOPROTEINS B gene, and the autosomal recessive form involving mutation of the microsomal triglyceride transfer protein. All are characterized by low LDL and dietary fat malabsorption.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Hypolipoproteinemias C0020623
Children (2)
img Abetalipoproteinemia C0000744
img Hypobetalipoproteinemia, Familial, Apolipoprotein B C1704299
Ancestral Roots
RootRoot Plus OneDepthParent
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255176img Hypolipoproteinemias C0020623
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501236img Hypolipoproteinemias C0020623
Relationships (8)

Relation Types:
diso_​to_​chem : 2
diso_​to_​diso : 4
diso_​to_​phen : 2


Relationships:
none : 4
mapped_​to : 2
permuted_​term_​of : 1
used_​for : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN27img genetic aspects C0017399
DISO_to_PHEN24img genetic aspects C0017399
DISO_to_CHEM15img Apolipoproteins B C0003593
DISO_to_CHEM11img Apolipoproteins B C0003593
DISO_to_DISOmapped_toimg ANDD C0795956
DISO_to_DISOused_forimg Abetalipoproteinemia C0000744
DISO_to_DISOpermuted_term_ofimg Hypo beta Lipoproteinemia C0020597
DISO_to_DISOmapped_toimg MCA/MR WITH HYPOCHOLESTEROLEMIA DUE TO FAMILIAL HYPOBETALIPOPROTEINEMIA C1864823
Genes (5)

Species:
human : 5
SpeciesGeneGeneIdGene NameEvidence
HumanCPT1C126129carnitine palmitoyltransferase 1C
INFERRED, Score=800, UMLKSK CUI: C0020597
HumanSAR1B51128SAR1 homolog B (S. cerevisiae)
INFERRED, Score=800, UMLKSK CUI: C0020597
HumanMTTP4547microsomal triglyceride transfer protein
INFERRED, Score=800, UMLKSK CUI: C0020597
HumanLDLR3949low density lipoprotein receptor
img GENERIF, Score=1000, Pubmed Id: 15797858, UMLKSK CUI: C0020597
HumanAPOB338apolipoprotein B
img GENERIF, Score=1000, Pubmed Id: 11940084, UMLKSK CUI: C0020597
img GAD, Score=1000, Pubmed Id: 1940616, UMLKSK CUI: C0020597
img GENERIF, Score=1000, Pubmed Id: 15797858, UMLKSK CUI: C0020597
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0020597Hypobetalipoproteinemias0self