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Human disease

AttributesValues
rdf:type
owl:sameAs
description
  • Krankheit (de)
  • Human disease (en)
  • maladie (fr)
  • մարդու հիվանդություն (hy)
  • хвороба людини (uk)
  • مرض يصيب الإنسان (ar)
  • بیماری های انسان (fa)
exact match
exact match
Mondo ID
DiseasesDB
Disease Ontology ID
Mondo ID
Disease Ontology ID
Mondo ID
  • MONDO_0008760
DiseasesDB
  • 29824
Disease Ontology ID
  • DOID:14723
rdfs:label
  • Beta-Ketothiolase-Mangel (de)
  • Nedostatak beta-ketotiolaze (bs)
  • beta-ketothiolase deficiency (en)
  • betaketotiolasbrist (sv)
  • déficit en bêta-cétothiolase (fr)
  • Β-酮硫解酶缺乏症 (zh)
  • کمبود بتا کتوتیولاز (fa)
skos:prefLabel
  • Beta-Ketothiolase-Mangel (de)
  • Nedostatak beta-ketotiolaze (bs)
  • beta-ketothiolase deficiency (en)
  • betaketotiolasbrist (sv)
  • déficit en bêta-cétothiolase (fr)
  • Β-酮硫解酶缺乏症 (zh)
  • کمبود بتا کتوتیولاز (fa)
name
  • Beta-Ketothiolase-Mangel (de)
  • Nedostatak beta-ketotiolaze (bs)
  • beta-ketothiolase deficiency (en)
  • betaketotiolasbrist (sv)
  • déficit en bêta-cétothiolase (fr)
  • Β-酮硫解酶缺乏症 (zh)
  • کمبود بتا کتوتیولاز (fa)
instance of
instance of
subclass of
subclass of
KEGG ID
KEGG ID
KEGG ID
  • H01076
UniProt disease ID
Orphanet ID
genetic association
ICD-10-CM
GARD rare disease ID
OMIM ID
Genetics Home Reference Conditions ID
UniProt disease ID
  • DI-00009
Orphanet ID
  • 134
genetic association
ICD-10-CM
  • E71.1
GARD rare disease ID
  • 872
OMIM ID
  • 203750
Genetics Home Reference Conditions ID
  • beta-ketothiolase-deficiency
skos:altLabel
  • BKT (en)
  • Mat Deficiency (en)
  • 2-Methyl-3-Hydroxybutyric Acidemia (en)
  • 2-methyl-3-hydroxybutyricacidemia (en)
  • 3-Ktd Deficiency (en)
  • 3-ketothiolase deficiency (en)
  • 3-oxothiolase deficiency (en)
  • ALPHA-METHYLACETOACETIC ACIDURIA (en)
  • Alpha methylacetoacetic aciduria (en)
  • Alpha-methyl-acetoacetyl-CoA thiolase deficiency (en)
  • Beta-Ketothiolase Deficiency (en)
  • Mitochondrial acetoacetyl-CoA Thiolase deficiency (en)
  • T2 Deficiency (en)
  • alpha-methylacetoaceticaciduria (en)
  • peroxisomal thiolase deficiency (en)
  • peroxisomal thiolase deficiency (disorder) (en)
  • Mitochondrial acetoacetyl-coenzyme A thiolase deficiency (en)
  • نقص استواستیل کوآ تیولاز میتوکندریایی (fa)
external data available at URL
NCI Thesaurus ID
UMLS CUI
MeSH descriptor ID
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