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Details
Link-It Detail - Disease - Anemia, Hemolytic, Congenital Nonspherocytic
Debug Stats
  • ### Total Build Time: 72 ms 17.348 KB
  • CONCEPT_NAME gt=7 ms Completed: 7 ms rowSize= 454 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 463 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= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=5 ms Completed: 5 ms rowSize= 565 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=5 ms Completed: 5 ms rowSize= 2.853 KB
  • CONCEPT_RELATIONSHIPS gt=41 ms Completed: 41 ms rowSize= 10.074 KB
  • CONCEPT_GENES gt=8 ms Completed: 8 ms rowSize= 1.577 KB
  • CONCEPT_XREFS gt=4 ms Completed: 4 ms rowSize= 1.178 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Anemia, Hemolytic, Congenital Nonspherocytic C0002882
ANEMIA CONGEN NONSPHEROCYTIC HEMOLYTIC
Definition (1)
group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte; in some cases, pyruvate kinase deficiency has been demonstrated; in other cases, glucose-6-phosphate dehydrogenase deficiency has been demonstrated.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Anemia, Hemolytic, Congenital C0002881
Ancestral Roots
RootRoot Plus OneDepthParent
img Hemic and Lymphatic Diseases C0018981img Hematologic Diseases C00189396img Anemia, Hemolytic, Congenital C0002881
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Anemia, Hemolytic, Congenital C0002881
Relationships (23)

Relation Types:
diso_​to_​chem : 1
diso_​to_​diso : 18
diso_​to_​phen : 2
diso_​to_​phys : 2


Relationships:
none : 5
entry_​version_​of : 1
isa : 17
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN18img genetic aspects C0017399
DISO_to_PHEN11img genetic aspects C0017399
DISO_to_PHYS6img Mutation C0026882
DISO_to_PHYS6img Mutation, Missense C0599155
DISO_to_CHEM5img Pyruvate Kinase C0034348
DISO_to_DISOentry_version_ofimg ANEMIA CONGEN NONSPHEROCYTIC HEMOLYTIC C0002882
DISO_to_DISOisaimg Adenosine deaminase superactivity C0340960
DISO_to_DISOisaimg Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism C1285215
DISO_to_DISOisaimg Erythrocytic glutathione deficiency anaemia C0272070
DISO_to_DISOisaimg HNSHA due to NADH diaphorase deficiency C0272076
DISO_to_DISOisaimg HNSHA due to NADH-methaemoglobin reductase deficiency C0272077
DISO_to_DISOisaimg HNSHA due to decreased adenosine deaminase activity C0272075
DISO_to_DISOisaimg HNSHA due to diphosphoglycerate mutase deficiency C0272069
DISO_to_DISOisaimg HNSHA due to gamma glutamyl cysteine synthetase deficiency C0272071
DISO_to_DISOisaimg HNSHA due to glucose phosphate isomerase deficiency C0272064
DISO_to_DISOisaimg HNSHA due to glutathione synthetase deficiency C0272072
DISO_to_DISOisaimg HNSHA due to hexokinase deficiency C0272063
DISO_to_DISOisaimg HNSHA due to phophoglycerate kinase deficiency C0272068
DISO_to_DISOisaimg HNSHA due to phosphofructokinase deficiency C0272065
DISO_to_DISOisaimg HNSHA due to pyrimidine-5'-nucleotidase deficiency C0272073
DISO_to_DISOisaimg HNSHA due to pyruvate kinase deficiency C0272062
DISO_to_DISOisaimg HNSHA due to triosephosphate isomerase deficiency C0272067
DISO_to_DISOisaimg Hereditary nonspherocytic hemolytic anemia (HNSHA) due to aldolase A deficiency C0272066
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanGPI2821glucose-6-phosphate isomerase
img GENERIF, Score=1000, Pubmed Id: 17041899, UMLKSK CUI: C0002882
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0002882Anemia, Hemolytic, Congenital Nonspherocytic0self