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GATACA
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Details
Link-It Detail - Disease - ACADVLD
Debug Stats
  • ### Total Build Time: 61 ms 4.612 KB
  • CONCEPT_NAME gt=8 ms Completed: 8 ms rowSize= 312 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 650 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=2 ms Completed: 2 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 7 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=3 ms Completed: 3 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=37 ms Completed: 37 ms rowSize= 2.357 KB
  • CONCEPT_XREFS gt=10 ms Completed: 10 ms rowSize= 1.142 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
ACADVLD C0342784
Definition (1)
An autosomal recessive inherited disorder characterized by a deficiency of the enzyme very long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms may appear in infancy, early childhood, or later in life. Clinical manifestations in infancy include cardiomyopathy, arrhythmias, hypotonia, and hepatomegaly. Early childhood manifestations include hypoglycemia and hepatomegaly. Later-onset manifestations include muscle pain, cramps, and rhabdomyolysis.
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanACADVL37acyl-CoA dehydrogenase, very long chain
img GENERIF, Score=1000, Pubmed Id: 17999356, UMLKSK CUI: C0342784
img GENERIF, Score=1000, Pubmed Id: 17374501, UMLKSK CUI: C0342784
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0342784ACADVLD0self