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Details
Link-It Detail - Human Phenotype - Abnormality of aromatic amino acid family metabolism
Debug Stats
  • ### Total Build Time: 216 ms 16.097 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 227 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 234 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=2 ms Completed: 2 ms rowSize= 457 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 2.414 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.109 KB
  • CONCEPT_RELATIONSHIPS gt=201 ms Completed: 201 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=7 ms Completed: 7 ms rowSize= 9.486 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.046 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of aromatic amino acid family metabolism HP:0004338
Definition (1)
An abnormality of a `aromatic amino acid family metabolic process` (GO:0009072).
Parents (1)
img Abnormality of amino acid metabolism HP:0004337
Children (7)
img Hyperphenylalaninemia HP:0004923
img Abnormality of tryptophan metabolism HP:0004365
img Abnormality of tyrosine metabolism HP:0010917
img Atypical hyperphenylalaninemia HP:0004922
img Abnormality of phenylalanine metabolism HP:0010893
img Hypertyrosinemia HP:0003231
img Reduced 4-Hydroxyphenylpyruvate dioxygenase activity HP:0003637
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of amino acid metabolism HP:0004337
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of amino acid metabolism HP:0004337
Genes (10)

Species:
human : 10
SpeciesGeneGeneIdGene NameEvidence
HumanFTCD10841formimidoyltransferase cyclodeaminase
img HP RolledUp, OMIM ID: 229100
HumanTAT6898tyrosine aminotransferase
img HP RolledUp, OMIM ID: 276600
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
HumanHPD32424-hydroxyphenylpyruvate dioxygenase
img HP RolledUp, OMIM ID: 140350
img HP RolledUp, OMIM ID: 276710
HumanGCH12643GTP cyclohydrolase 1
img HP RolledUp, OMIM ID: 233910
img HP RolledUp, OMIM ID: 128230
img HP RolledUp, OMIM ID: 600225
HumanFAH2184fumarylacetoacetate hydrolase (fumarylacetoacetase)
img HP RolledUp, OMIM ID: 276700
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0004338Abnormality of aromatic amino acid family metabolism0self