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Details
Link-It Detail - Human Phenotype - Abnormality of phenylalanine metabolism
Debug Stats
  • ### Total Build Time: 28 ms 13.050 KB
  • CONCEPT_NAME gt=9 ms Completed: 9 ms rowSize= 214 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 221 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=5 ms Completed: 5 ms rowSize= 473 bytes
  • CONCEPT_CHILDREN gt=4 ms Completed: 4 ms rowSize= 2.073 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=3 ms Completed: 3 ms rowSize= 2.141 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=6 ms Completed: 6 ms rowSize= 6.771 KB
  • CONCEPT_XREFS gt=1 ms Completed: 0 ms rowSize= 1.033 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of phenylalanine metabolism HP:0010893
Definition (1)
An abnormality of `L-phenylalanine metabolic process` (GO:0006558).
Parents (1)
img Abnormality of aromatic amino acid family metabolism HP:0004338
Children (6)
img Positive ferric chloride test HP:0003612
img Hyperphenylalaninemia HP:0004923
img Maternal hyperphenylalaninemia HP:0100610
img Atypical hyperphenylalaninemia HP:0004922
img Reduced phenylalanine hydroxylase activity HP:0005982
img Transient hyperphenylalaninemia HP:0008297
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of aromatic amino acid family metabolism HP:0004338
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of aromatic amino acid family metabolism HP:0004338
Genes (7)

Species:
human : 7
SpeciesGeneGeneIdGene NameEvidence
HumanFTCD10841formimidoyltransferase cyclodeaminase
img HP RolledUp, OMIM ID: 229100
HumanSPR6697sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
img HP RolledUp, OMIM ID: 612716
HumanQDPR5860quinoid dihydropteridine reductase
img HP RolledUp, OMIM ID: 261630
HumanPTS58056-pyruvoyltetrahydropterin synthase
img HP RolledUp, OMIM ID: 261640
HumanPCBD15092pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha
img HP RolledUp, OMIM ID: 264070
HumanPAH5053phenylalanine hydroxylase
img HP RolledUp, OMIM ID: 261600
HumanGCH12643GTP cyclohydrolase 1
img HP RolledUp, OMIM ID: 233910
img HP RolledUp, OMIM ID: 600225
img HP RolledUp, OMIM ID: 128230
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0010893Abnormality of phenylalanine metabolism0self