An Entity of Type: disease, from Named Graph: http://dbpedia.org, within Data Space: dbpedia.org

Congenital nonspherocytic hemolytic anemia that has material basis in homozygous or compound heterozygous mutation in the PKLR gene on chromosome 1q22

Property Value
dbo:description
  • maladie (orpheline) à transmission autosomale récessive (fr)
  • defekt enzymatyczny krwinek czerwonych (pl)
  • congenital nonspherocytic hemolytic anemia that has material basis in homozygous or compound heterozygous mutation in the PKLR gene on chromosome 1q22 (en)
  • malattia metabolica ereditaria dell'enzima piruvato chinasi che influenza la sopravvivenza dei globuli rossi (it)
dbo:diseasesDB
  • 11090
dbo:eMedicineSubject
  • med (en)
dbo:eMedicineTopic
  • 1980 (en)
dbo:icd10
  • D55.2
dbo:icd9
  • 282.3
dbo:medicalDiagnosis
dbo:medlinePlus
  • 001197
dbo:omim
  • 266200 (xsd:integer)
dbo:symptom
dbo:thumbnail
dbo:treatment
dbo:wikiPageExternalLink
dbo:wikiPageWikiLink
dbp:caption
dbp:causes
  • Mutation in PKLR gene (en)
dbp:diagnosis
  • Physical exam, CBC (en)
dbp:diseasesdb
  • 11090 (xsd:integer)
dbp:emedicinesubj
  • med (en)
dbp:emedicinetopic
  • 1980 (xsd:integer)
dbp:icd
  • 282.300000 (xsd:double)
  • (en)
  • D55.2 (en)
dbp:medlineplus
  • 1197 (xsd:integer)
dbp:name
  • Pyruvate kinase deficiency (en)
dbp:omim
  • 266200 (xsd:integer)
dbp:symptoms
  • Anemia, tachycardia (en)
dbp:synonyms
  • Erythrocyte pyruvate kinase deficiency (en)
dbp:treatment
  • Blood transfusion (en)
dbp:wikiPageUsesTemplate
dbp:wordnet_type
dct:subject
gold:hypernym
rdf:type
rdfs:label
  • Pyruvate kinase deficiency (en)
  • نقص البيروفات كايناز (ar)
  • Pyruvatkinasemangel (de)
  • Déficit en pyruvate kinase (fr)
  • Deficit di piruvato chinasi (it)
  • Niedobór kinazy pirogronianowej (pl)
owl:sameAs
prov:wasDerivedFrom
foaf:depiction
foaf:isPrimaryTopicOf
foaf:name
  • Pyruvate kinase deficiency (en)
is dbo:differentialDiagnosis of
is dbo:wikiPageRedirects of
is dbo:wikiPageWikiLink of
is dbp:differential of
is foaf:primaryTopic of
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