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Details
Link-It Detail - Human Phenotype - Abnormality of pyrimidine metabolism
Debug Stats
  • ### Total Build Time: 33 ms 19.609 KB
  • CONCEPT_NAME gt=8 ms Completed: 8 ms rowSize= 211 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 223 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=3 ms Completed: 3 ms rowSize= 797 bytes
  • CONCEPT_CHILDREN gt=4 ms Completed: 4 ms rowSize= 1.804 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=3 ms Completed: 3 ms rowSize= 2.110 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=12 ms Completed: 12 ms rowSize= 13.318 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.030 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of pyrimidine metabolism HP:0004353
Definition (1)
An abnormality of a `pyrimidine base metabolic process` (GO:0006206).
Parents (2)
img Abnormality of nucleobase metabolism HP:0010932
img Abnormality of metabolism/homeostasis HP:0001939
Children (5)
img Abnormality of orotic acid metabolism HP:0010928
img Reduced dihydropyrimidine dehydrogenase activity HP:0003654
img Reduced orotidine 5-prime phosphate decarboxylase activity HP:0003267
img Deficient excision of UV-induced pyrimidine dimers in DNA HP:0003213
img Uraciluria HP:0012127
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of nucleobase metabolism HP:0010932
img All HP:0000001img Phenotypic abnormality HP:00001184img Abnormality of metabolism/homeostasis HP:0001939
Genes (15)

Species:
human : 15
SpeciesGeneGeneIdGene NameEvidence
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
HumanFANCG2189Fanconi anemia, complementation group G
img HP RolledUp, OMIM ID: 227650
HumanFANCF2188Fanconi anemia, complementation group F
img HP RolledUp, OMIM ID: 227650
HumanFANCB2187Fanconi anemia, complementation group B
img HP RolledUp, OMIM ID: 227650
HumanFANCE2178Fanconi anemia, complementation group E
img HP RolledUp, OMIM ID: 227650
img HP RolledUp, OMIM ID: 600901
HumanFANCD22177Fanconi anemia, complementation group D2
img HP RolledUp, OMIM ID: 227650
img HP RolledUp, OMIM ID: 227646
HumanFANCC2176Fanconi anemia, complementation group C
img HP RolledUp, OMIM ID: 227650
img HP RolledUp, OMIM ID: 227645
HumanFANCA2175Fanconi anemia, complementation group A
img HP RolledUp, OMIM ID: 227650
HumanDPYS1807dihydropyrimidinase
img HP RolledUp, OMIM ID: 222748
HumanDPYD1806dihydropyrimidine dehydrogenase
img HP RolledUp, OMIM ID: 274270
HumanBRCA2675breast cancer 2, early onset
img HP RolledUp, OMIM ID: 227650
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:0004353Abnormality of pyrimidine metabolism0self