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Details
Link-It Detail - Disease - Hyperphenylalaninaemia
Debug Stats
  • ### Total Build Time: 28 ms 7.535 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 342 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 532 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=1 ms Completed: 1 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=2 ms Completed: 2 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=16 ms Completed: 16 ms rowSize= 5.352 KB
  • CONCEPT_XREFS gt=4 ms Completed: 4 ms rowSize= 1.156 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Hyperphenylalaninaemia C0751435
Definition (1)
any of several autosomal recessive defects in the hydroxylation of phenylalanine resulting in accumulation and excretion of dietary phenylalanine; most commonly the defect is in the enzyme phenylalanine 4-monooxygenase; the most severe manifestation of this is classic PHENYLKETONURIA, but two benign forms also occur; rarely the defect is one of tetrahydrobiopterin metabolism.
Genes (3)

Species:
human : 3
SpeciesGeneGeneIdGene NameEvidence
HumanPTS58056-pyruvoyltetrahydropterin synthase
img GENERIF, Score=861, Pubmed Id: 11438997, UMLKSK CUI: C0751435
HumanPAH5053phenylalanine hydroxylase
img GAD, Score=1000, Pubmed Id: 12173030, UMLKSK CUI: C0751435
img GENERIF, Score=1000, Pubmed Id: 18294361, UMLKSK CUI: C0751435
HumanGCH12643GTP cyclohydrolase 1
img GENERIF, Score=1000, Pubmed Id: 18276179, UMLKSK CUI: C0751435
img OMIM, Score=1000, UMLKSK CUI: C0751435
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0751435Hyperphenylalaninaemia0self