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Details
Link-It Detail - Disease - Hypolipoproteinemias
Debug Stats
  • ### Total Build Time: 151 ms 29.087 KB
  • CONCEPT_NAME gt=8 ms Completed: 8 ms rowSize= 338 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 435 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=1 ms Completed: 1 ms rowSize= 998 bytes
  • CONCEPT_CHILDREN gt=6 ms Completed: 6 ms rowSize= 1,005 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 4.140 KB
  • CONCEPT_RELATIONSHIPS gt=109 ms Completed: 109 ms rowSize= 12.819 KB
  • CONCEPT_GENES gt=24 ms Completed: 24 ms rowSize= 8.052 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.154 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Hypolipoproteinemias C0020623
Definition (1)
Conditions with abnormally low levels of LIPOPROTEINS in the blood. This may involve any of the lipoprotein subclasses, including ALPHA-LIPOPROTEINS (high-density lipoproteins); BETA-LIPOPROTEINS (low-density lipoproteins); and PREBETA-LIPOPROTEINS (very-low-density lipoproteins).
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Dyslipidemias C0242339
img Lipid Metabolism, Inborn Errors C0023772
Children (2)
img Hypoalphalipoproteinemias C0473527
img Hypobetalipoproteinemias C0020597
Ancestral Roots
RootRoot Plus OneDepthParent
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Dyslipidemias C0242339
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Lipid Metabolism, Inborn Errors C0023772
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Lipid Metabolism, Inborn Errors C0023772
Relationships (48)

Relation Types:
diso_​to_​anat : 2
diso_​to_​chem : 3
diso_​to_​diso : 41
diso_​to_​phen : 2


Relationships:
none : 9
classifies : 2
expanded_​form_​of : 1
isa : 4
mapped_​to : 32
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN11img genetic aspects C0017399
DISO_to_ANAT9img In Blood C0005768
DISO_to_CHEM9img Cholesterol, HDL C0023822
DISO_to_ANAT7img In Blood C0005768
DISO_to_DISO7img Complication Aspects C1171258
DISO_to_PHEN7img genetic aspects C0017399
DISO_to_CHEM4img High Density Lipoproteins C0023821
DISO_to_CHEM4img Lipoproteins, HDL C0023821
DISO_to_DISO4img Coronary Disease C0010068
DISO_to_DISOmapped_toimg Abetalipoproteinemia C0000744
DISO_to_DISOmapped_toimg Abetalipoproteinemia neuropathy C2931925
DISO_to_DISOmapped_toimg Acanthocytosis C0687751
DISO_to_DISOmapped_toimg Apo A-I Giessen variant C0342905
DISO_to_DISOmapped_toimg Apo A-I Marburg variant C0342901
DISO_to_DISOmapped_toimg Apo A-I Milano variant C0342900
DISO_to_DISOmapped_toimg Apo A-I variant fisheye-like syndrome C0342906
DISO_to_DISOmapped_toimg ApoA-I Munster variant 1 C0342902
DISO_to_DISOmapped_toimg ApoA-I Munster variant 2 C0342903
DISO_to_DISOmapped_toimg ApoA-I Munster variant 3 C0342904
DISO_to_DISOisaimg Apolipoprotein A-I deficiency C0342898
DISO_to_DISOmapped_toimg Apolipoprotein A-I variant disorder C0342899
DISO_to_DISOmapped_toimg Chorea Acanthocytosis Syndrome C0393576
DISO_to_DISOisaimg FHBL C1862596
DISO_to_DISOmapped_toimg Familial hyperlipoproteinaemia C0700623
DISO_to_DISOmapped_toimg Familial hypobetalipoproteinaemia - heterozygous form C0342897
Genes (13)

Species:
human : 13
SpeciesGeneGeneIdGene NameEvidence
HumanCPT1C126129carnitine palmitoyltransferase 1C
INFERRED, Score=800, UMLKSK CUI: C0020623
HumanSAR1B51128SAR1 homolog B (S. cerevisiae)
INFERRED, Score=800, UMLKSK CUI: C0020623
HumanTERT7015telomerase reverse transcriptase
INFERRED, Score=800, UMLKSK CUI: C0020623
HumanMTTP4547microsomal triglyceride transfer protein
INFERRED, Score=800, UMLKSK CUI: C0020623
HumanLDLR3949low density lipoprotein receptor
INFERRED, Score=800, UMLKSK CUI: C0020623
HumanLCAT3931lecithin-cholesterol acyltransferase
INFERRED, Score=800, UMLKSK CUI: C0020623
HumanGBA2629glucosidase, beta, acid
INFERRED, Score=800, UMLKSK CUI: C0020623
HumanCRP1401C-reactive protein, pentraxin-related
INFERRED, Score=800, UMLKSK CUI: C0020623
HumanAPOC3345apolipoprotein C-III
INFERRED, Score=800, UMLKSK CUI: C0020623
HumanAPOB338apolipoprotein B
INFERRED, Score=800, UMLKSK CUI: C0020623
HumanAPOA1335apolipoprotein A-I
INFERRED, Score=800, UMLKSK CUI: C0020623
HumanABCD1215ATP-binding cassette, sub-family D (ALD), member 1
INFERRED, Score=800, UMLKSK CUI: C0020623
HumanABCA119ATP-binding cassette, sub-family A (ABC1), member 1
INFERRED, Score=800, UMLKSK CUI: C0020623
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0020623Hypolipoproteinemias0self