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Details
Link-It Detail - Human Phenotype - Abnormality of fatty-acid metabolism
Debug Stats
  • ### Total Build Time: 32 ms 30.949 KB
  • CONCEPT_NAME gt=10 ms Completed: 10 ms rowSize= 211 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 465 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=3 ms Completed: 3 ms rowSize= 452 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 2.470 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=1 ms Completed: 1 ms rowSize= 1.167 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=12 ms Completed: 12 ms rowSize= 25.036 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.030 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of fatty-acid metabolism HP:0004359
Definition (1)
A fatty acid is an aliphatic monocarboxylic acid derived from or contained in esterified form. Natural fatty acids commonly have a chain of 4 to 28 carbons (usually unbranched and even-numbered), which may be saturated or unsaturated. R-COOH. Fatty acids are usually derived from triglycerides or phospholipids.
Parents (1)
img Abnormality of lipid metabolism HP:0003119
Children (7)
img Decreased plasma carnitine HP:0003234
img Elevated levels of phytanic acid HP:0010571
img Abnormality of unsaturated fatty acid metabolism HP:0011022
img Abnormality of long-chain fatty-acid metabolism HP:0010964
img Defective dehydrogenation of isovaleryl CoA and butyryl CoA HP:0003490
img Elevated long chain fatty acids HP:0003455
img Abnormality of fatty-acid anion metabolism HP:0010966
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of lipid metabolism HP:0003119
Genes (25)

Species:
human : 25
SpeciesGeneGeneIdGene NameEvidence
HumanPEX2655670peroxisomal biogenesis factor 26
img HP RolledUp, OMIM ID: 214100
img HP RolledUp, OMIM ID: 266510
img HP RolledUp, OMIM ID: 202370
HumanACAD827034acyl-CoA dehydrogenase family, member 8
img HP RolledUp, OMIM ID: 611283
HumanPEX169409peroxisomal biogenesis factor 16
img HP RolledUp, OMIM ID: 614877
HumanPEX38504peroxisomal biogenesis factor 3
img HP RolledUp, OMIM ID: 214100
HumanSLC12A16557solute carrier family 12 (sodium/potassium/chloride transporter), member 1
HumanPEX55830peroxisomal biogenesis factor 5
img HP RolledUp, OMIM ID: 214100
img HP RolledUp, OMIM ID: 202370
img HP RolledUp, OMIM ID: 214110
HumanPEX25828peroxisomal biogenesis factor 2
img HP RolledUp, OMIM ID: 266510
img HP RolledUp, OMIM ID: 614867
img HP RolledUp, OMIM ID: 214100
HumanPEX195824peroxisomal biogenesis factor 19
img HP RolledUp, OMIM ID: 614886
img HP RolledUp, OMIM ID: 214100
HumanPEX145195peroxisomal biogenesis factor 14
img HP RolledUp, OMIM ID: 214100
HumanPEX135194peroxisomal biogenesis factor 13
img HP RolledUp, OMIM ID: 202370
img HP RolledUp, OMIM ID: 214100
HumanPEX125193peroxisomal biogenesis factor 12
img HP RolledUp, OMIM ID: 266510
img HP RolledUp, OMIM ID: 214100
HumanPEX105192peroxisomal biogenesis factor 10
img HP RolledUp, OMIM ID: 202370
img HP RolledUp, OMIM ID: 214100
HumanPEX75191peroxisomal biogenesis factor 7
img HP RolledUp, OMIM ID: 614879
HumanPEX65190peroxisomal biogenesis factor 6
img HP RolledUp, OMIM ID: 214100
HumanPEX15189peroxisomal biogenesis factor 1
img HP RolledUp, OMIM ID: 266510
img HP RolledUp, OMIM ID: 202370
img HP RolledUp, OMIM ID: 214100
HumanKCNJ13758potassium inwardly-rectifying channel, subfamily J, member 1
img HP RolledUp, OMIM ID: 241200
HumanHADHA3030hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
img HP RolledUp, OMIM ID: 609016
HumanETFDH2110electron-transferring-flavoprotein dehydrogenase
img HP RolledUp, OMIM ID: 231675
img HP RolledUp, OMIM ID: 231680
HumanETFB2109electron-transfer-flavoprotein, beta polypeptide
img HP RolledUp, OMIM ID: 231680
HumanETFA2108electron-transfer-flavoprotein, alpha polypeptide
img HP RolledUp, OMIM ID: 231680
HumanCPT21376carnitine palmitoyltransferase 2
img HP RolledUp, OMIM ID: 608836
HumanABCD1215ATP-binding cassette, sub-family D (ALD), member 1
img HP RolledUp, OMIM ID: 300100
HumanACADVL37acyl-CoA dehydrogenase, very long chain
img HP RolledUp, OMIM ID: 201475
HumanACADM34acyl-CoA dehydrogenase, C-4 to C-12 straight chain
img HP RolledUp, OMIM ID: 201450
HumanACADL33acyl-CoA dehydrogenase, long chain
img HP RolledUp, OMIM ID: 201475
img HP RolledUp, OMIM ID: 201460
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0004359Abnormality of fatty-acid metabolism0self