About: pyruvate kinase deficiency     Goto   Sponge   NotDistinct   Permalink

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

AttributesValues
rdf:type
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)
exact match
exact match
health specialty
ICD-10
Mondo ID
DiseasesDB
Disease Ontology ID
Mondo ID
Disease Ontology ID
health specialty
ICD-10
  • D55.2
Mondo ID
  • MONDO_0009950
DiseasesDB
  • 11090
Disease Ontology ID
  • DOID:0111077
rdfs:label
  • Pyruvatkinasemangel (de)
  • Niedobór kinazy pirogronianowej (pl)
  • deficit di piruvato chinasi (it)
  • déficit en pyruvate kinase (fr)
  • pyruvaat-kinasedeficiëntie (nl)
  • pyruvate kinase deficiency (en)
  • نقص البيروفات كايناز (ar)
  • ピルビン酸キナーゼ欠損症 (ja)
  • 丙酮酸激酶缺乏症 (zh)
skos:prefLabel
  • Pyruvatkinasemangel (de)
  • Niedobór kinazy pirogronianowej (pl)
  • deficit di piruvato chinasi (it)
  • déficit en pyruvate kinase (fr)
  • pyruvaat-kinasedeficiëntie (nl)
  • pyruvate kinase deficiency (en)
  • نقص البيروفات كايناز (ar)
  • ピルビン酸キナーゼ欠損症 (ja)
  • 丙酮酸激酶缺乏症 (zh)
name
  • Pyruvatkinasemangel (de)
  • Niedobór kinazy pirogronianowej (pl)
  • deficit di piruvato chinasi (it)
  • déficit en pyruvate kinase (fr)
  • pyruvaat-kinasedeficiëntie (nl)
  • pyruvate kinase deficiency (en)
  • نقص البيروفات كايناز (ar)
  • ピルビン酸キナーゼ欠損症 (ja)
  • 丙酮酸激酶缺乏症 (zh)
Patientplus ID
Patientplus ID
  • Pyruvate-Kinase-Deficiency
instance of
instance of
subclass of
subclass of
eMedicine ID
eMedicine ID
  • 125096
KEGG ID
KEGG ID
KEGG ID
  • H01096
UniProt disease ID
Orphanet ID
genetic association
ICD-10-CM
PatientsLikeMe condition ID
GARD rare disease ID
OMIM ID
Genetics Home Reference Conditions ID
UniProt disease ID
  • DI-00965
Orphanet ID
  • 766
genetic association
ICD-10-CM
  • D55.2
PatientsLikeMe condition ID
  • pk-deficiency
GARD rare disease ID
  • 7514
OMIM ID
  • 266200
Genetics Home Reference Conditions ID
  • pyruvate-kinase-deficiency
ICD-9 ID
ICD-9 ID
  • 282.3
skos:altLabel
  • anémie hémolytique due à un déficit en pyruvate kinase du globule rouge (fr)
  • hemolytic anemia due to red cell pyruvate kinase deficiency (en)
  • PK deficiency (en)
  • Pyruvate kinase deficiency of erythrocytes (en)
  • pyruvate kinase deficiency of erythrocyte (en)
  • pyruvate kinase deficiency of red cells (en)
OpenAlex ID
Encyclopedia of China (Third Edition) ID
NCI Thesaurus ID
UMLS CUI
MeSH descriptor ID
on focus list of Wikimedia project
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