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Adenine phosphoribosyltransferase deficiency is an autosomal recessive metabolic disorder associated with a mutation in the enzyme adenine phosphoribosyltransferase.

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dbo:abstract
  • عوز الأدينين فوسفوريبويل ترانسفيراز هو اضطراب استقلابي وراثي جسدي متنح مرتبط بطفرة في إنزيم الأدينين فوسفوريبويل ترانسفيراز. (ar)
  • Adenine phosphoribosyltransferase deficiency is an autosomal recessive metabolic disorder associated with a mutation in the enzyme adenine phosphoribosyltransferase. (en)
  • Deficiência de adenina fosforribosiltransferase é uma doença metabólica autossómica recessiva. Esta associada a uma mutação no gene que codifica a enzima . (pt)
dbo:diseasesDB
  • 32632
dbo:icd10
  • E79.
dbo:icd9
  • 277.2
dbo:omim
  • 102600 (xsd:integer)
dbo:orpha
  • 976
dbo:thumbnail
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  • 3820994 (xsd:integer)
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  • 4955 (xsd:nonNegativeInteger)
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  • 1088493418 (xsd:integer)
dbo:wikiPageWikiLink
dbp:caption
  • Dihydroxyadenine, an insoluble purine (en)
dbp:diseasesdb
  • 32632 (xsd:integer)
dbp:icd
  • 277.200000 (xsd:double)
  • (en)
  • E79. (en)
dbp:name
  • Adenine phosphoribosyltransferase deficiency (en)
dbp:omim
  • 102600 (xsd:integer)
dbp:orphanet
  • 976 (xsd:integer)
dbp:synonyms
  • APRT deficiency or 2,8 Dihydroxyadenine urolithiasis (en)
dbp:wikiPageUsesTemplate
dbp:wordnet_type
dcterms:subject
gold:hypernym
rdf:type
rdfs:comment
  • عوز الأدينين فوسفوريبويل ترانسفيراز هو اضطراب استقلابي وراثي جسدي متنح مرتبط بطفرة في إنزيم الأدينين فوسفوريبويل ترانسفيراز. (ar)
  • Adenine phosphoribosyltransferase deficiency is an autosomal recessive metabolic disorder associated with a mutation in the enzyme adenine phosphoribosyltransferase. (en)
  • Deficiência de adenina fosforribosiltransferase é uma doença metabólica autossómica recessiva. Esta associada a uma mutação no gene que codifica a enzima . (pt)
rdfs:label
  • Adenine phosphoribosyltransferase deficiency (en)
  • عوز الأدينين فوسفوريبويل ترانسفيراز (ar)
  • Deficiência de adenina fosforribosiltransferase (pt)
owl:sameAs
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foaf:name
  • Adenine phosphoribosyltransferase deficiency (en)
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