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Details
Link-It Detail - Human Phenotype - Abnormality of monocarboxylic acid metabolism
Debug Stats
  • ### Total Build Time: 25 ms 16.572 KB
  • CONCEPT_NAME gt=1 ms Completed: 0 ms rowSize= 220 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_DEFINITION gt=NONE 0 Completed: 0 ms rowSize= 0 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=9 ms Completed: 9 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= 462 bytes
  • CONCEPT_CHILDREN gt=5 ms Completed: 5 ms rowSize= 2.096 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.177 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=9 ms Completed: 9 ms rowSize= 11.450 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.039 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of monocarboxylic acid metabolism HP:0010996
Parents (1)
img Abnormality of carboxylic acid metabolism HP:0004354
Children (6)
img Reduced 4-Hydroxyphenylpyruvate dioxygenase activity HP:0003637
img increased serum bile acid concentration HP:0012202
img Urocanic aciduria HP:0012237
img 4-Hydroxyphenylacetic aciduria HP:0003607
img Abnormality of orotic acid metabolism HP:0010928
img 4-Hydroxyphenylpyruvic aciduria HP:0003161
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of carboxylic acid metabolism HP:0004354
Genes (13)

Species:
human : 13
SpeciesGeneGeneIdGene NameEvidence
HumanUROC1131669urocanate hydratase 1
img HP RolledUp, OMIM ID: 276880
HumanTJP29414tight junction protein 2
img HP RolledUp, OMIM ID: 607748
HumanSLC7A79056solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
img HP RolledUp, OMIM ID: 222700
HumanUMPS7372uridine monophosphate synthetase
img HP RolledUp, OMIM ID: 258900
HumanTAT6898tyrosine aminotransferase
img HP RolledUp, OMIM ID: 276600
HumanABCB45244ATP-binding cassette, sub-family B (MDR/TAP), member 4
img HP RolledUp, OMIM ID: 147480
img HP RolledUp, OMIM ID: 614972
HumanATP8B15205ATPase, aminophospholipid transporter, class I, type 8B, member 1
img HP RolledUp, OMIM ID: 147480
HumanHPD32424-hydroxyphenylpyruvate dioxygenase
img HP RolledUp, OMIM ID: 276710
img HP RolledUp, OMIM ID: 140350
HumanEPHX12052epoxide hydrolase 1, microsomal (xenobiotic)
img HP RolledUp, OMIM ID: 607748
HumanBAAT570bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)
img HP RolledUp, OMIM ID: 607748
HumanASS1445argininosuccinate synthase 1
img HP RolledUp, OMIM ID: 215700
HumanASL435argininosuccinate lyase
img HP RolledUp, OMIM ID: 207900
HumanARG1383arginase 1
img HP RolledUp, OMIM ID: 207800
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0010996Abnormality of monocarboxylic acid metabolism0self