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Details
Link-It Detail - Disease - Purine-Pyrimidine Metabolism, Inborn Errors
Debug Stats
  • ### Total Build Time: 25 ms 23.858 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 459 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 316 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= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 561 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 1.407 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.849 KB
  • CONCEPT_RELATIONSHIPS gt=2 ms Completed: 2 ms rowSize= 9.333 KB
  • CONCEPT_GENES gt=18 ms Completed: 18 ms rowSize= 7.577 KB
  • CONCEPT_XREFS gt=5 ms Completed: 5 ms rowSize= 1.177 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Purine-Pyrimidine Metabolism, Inborn Errors C0034139
DISORDERS OF PURINE AND PYRIMIDINE METABOLISM
Definition (1)
condition in which there is a deviation or interruption in the processing of purine or pyrmidine in the body: its absorption, transport, storage, and utilization.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Metabolism, Inborn Errors C0025521
Children (3)
img Gout C0018099
img Lesch-Nyhan Syndrome C0023374
img Dihydropyrimidine Dehydrogenase Deficiency C1959620
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Metabolism, Inborn Errors C0025521
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255174img Metabolism, Inborn Errors C0025521
Relationships (21)

Relation Types:
diso_​to_​chem : 6
diso_​to_​diso : 14
diso_​to_​phen : 1


Relationships:
none : 8
entry_​version_​of : 1
isa : 5
mapped_​to : 5
use : 2
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN14img genetic aspects C0017399
DISO_to_DISO11img Complication Aspects C1171258
DISO_to_CHEM9img ADENYLOSUCCINATE LYASE C0001502
DISO_to_CHEM6img Amidohydrolases C0002488
DISO_to_CHEM5img Dihydropyrimidine dehydrogenase C0058126
DISO_to_CHEM5img Dihydrouracil Dehydrogenase (NADP) C0058126
DISO_to_CHEM5img Uric Acid C0041980
DISO_to_CHEM5img Xanthine C0043314
DISO_to_DISOuseimg 6-40 DISORDERS OF PURINE METABOLISM C0268104
DISO_to_DISOuseimg 6-44 DISORDERS OF PYRIMIDINE METABOLISM C0268127
DISO_to_DISOmapped_toimg Adenosine monophosphate deaminase deficiency C2931781
DISO_to_DISOmapped_toimg Adenylosuccinate lyase deficiency (disorder) C0268126
DISO_to_DISOisaimg CDP - Cytosine diphosphate choline phosphotransferase deficiency C0342802
DISO_to_DISOisaimg Classical xanthinuria C0268118
DISO_to_DISOentry_version_ofimg DISORDERS OF PURINE AND PYRIMIDINE METABOLISM C0034139
DISO_to_DISOmapped_toimg Deficiency of ribose-phosphate pyrophosphokinase (disorder) C1291401
DISO_to_DISOisaimg Hereditary orotic aciduria type II C0268131
DISO_to_DISOmapped_toimg Hereditary orotic aciduria, type 1 C0268130
DISO_to_DISOisaimg Hereditary xanthinuria C0220988
DISO_to_DISOisaimg Pyrimidine-5-nucleotidase deficiency C0340969
DISO_to_DISOmapped_toimg Thiopurine S methyltranferase deficiency C0342801
Genes (12)

Species:
human : 12
SpeciesGeneGeneIdGene NameEvidence
HumanNKPD1284353NTPase, KAP family P-loop domain containing 1
INFERRED, Score=800, UMLKSK CUI: C0034139
HumanPADI423569peptidyl arginine deiminase, type IV
INFERRED, Score=800, UMLKSK CUI: C0034139
HumanPADI211240peptidyl arginine deiminase, type II
INFERRED, Score=800, UMLKSK CUI: C0034139
HumanUMOD7369uromodulin
INFERRED, Score=800, UMLKSK CUI: C0034139
HumanHNF1B6928HNF1 homeobox B
INFERRED, Score=800, UMLKSK CUI: C0034139
HumanPRPS15631phosphoribosyl pyrophosphate synthetase 1
INFERRED, Score=800, UMLKSK CUI: C0034139
HumanPFKM5213phosphofructokinase, muscle
INFERRED, Score=800, UMLKSK CUI: C0034139
HumanMMP94318matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)
INFERRED, Score=800, UMLKSK CUI: C0034139
HumanIL183606interleukin 18 (interferon-gamma-inducing factor)
INFERRED, Score=800, UMLKSK CUI: C0034139
HumanHPRT13251hypoxanthine phosphoribosyltransferase 1
INFERRED, Score=800, UMLKSK CUI: C0034139
HumanSLC37A42542solute carrier family 37 (glucose-6-phosphate transporter), member 4
INFERRED, Score=800, UMLKSK CUI: C0034139
HumanDPYD1806dihydropyrimidine dehydrogenase
INFERRED, Score=800, UMLKSK CUI: C0034139
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0034139Purine-Pyrimidine Metabolism, Inborn Errors0self