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Details
Link-It Detail - Human Phenotype - Abetalipoproteinemia
Debug Stats
  • ### Total Build Time: 20 ms 6.955 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 195 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 246 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= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=2 ms Completed: 2 ms rowSize= 444 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=7 ms Completed: 7 ms rowSize= 2.084 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=6 ms Completed: 6 ms rowSize= 2.840 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.015 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abetalipoproteinemia HP:0008181
Definition (1)
An absence of `low-density lipoprotein cholesterol` (CHEBI:47774) in the `blood` (FMA:9670).
Parents (1)
img Hypobetalipoproteinemia HP:0003563
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001186img Hypobetalipoproteinemia HP:0003563
img All HP:0000001img Phenotypic abnormality HP:00001189img Hypobetalipoproteinemia HP:0003563
Genes (3)

Species:
human : 3
SpeciesGeneGeneIdGene NameEvidence
HumanPANK280025pantothenate kinase 2
img HP ITM, OMIM ID: 607236
HumanSLC4A16521solute carrier family 4 (anion exchanger), member 1
img HP ITM, OMIM ID: 109270
HumanMTTP4547microsomal triglyceride transfer protein
img HP PCS, OMIM ID: 200100
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0008181Abetalipoproteinemia0self