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genetic disease characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop

AttributesValues
rdf:type
description
  • Krankheit (de)
  • хвороба (uk)
  • مرض بشري (ar)
  • malattia genetica (it)
  • генэтычнае захворваньне з наяўнасьцю двух мутаваных копіяў гену (be-tarask)
  • clefyd genetig (cy)
  • genetic disease characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop (en)
  • nexweşiya bomaweyî ko bi hebûna cota allelên bezîw ên li ser kromozomên laşî de peyda dibe (ku-latn)
exact match
exact match
Experimental Factor Ontology ID
Mondo ID
Disease Ontology ID
Mondo ID
Disease Ontology ID
Experimental Factor Ontology ID
  • 1000017
Mondo ID
  • MONDO_0006025
Disease Ontology ID
  • DOID:0050737
rdfs:label
  • աուտոսոմ ռեցեսիվ հիվանդություն (hy)
  • Doença autossômica recessiva (pt-br)
  • Dziedziczenie autosomalne recesywne (pl)
  • autosomal recessive disease (en)
  • autosomalt recessiv sjukdom (nn)
  • avtosomna recisivna bolezen (sl)
  • aŭtosoma recesiva malsano (eo)
  • clefyd otosomal enciliol (cy)
  • doença autossómica recessiva (pt)
  • enfermedad autosómica recesiva (es)
  • maladie à transmission autosomique récessive (fr)
  • malaltia autosòmica recessiva (ca)
  • malattia autosomica recessiva (it)
  • nexwweşiya laşî bezîw (ku-latn)
  • заболевание с аутосомно-рецессивным типом наследования (ru)
  • اضطراب صبغي جسدي متنحي (ar)
  • 常染色体劣性疾患 (ja)
  • 常染色体隐性遗传病 (zh)
  • 상염색체 열성 질환 (ko)
  • аўтасомна-рэцэсіўнае захворваньне (be-tarask)
skos:prefLabel
  • աուտոսոմ ռեցեսիվ հիվանդություն (hy)
  • Doença autossômica recessiva (pt-br)
  • Dziedziczenie autosomalne recesywne (pl)
  • autosomal recessive disease (en)
  • autosomalt recessiv sjukdom (nn)
  • avtosomna recisivna bolezen (sl)
  • aŭtosoma recesiva malsano (eo)
  • clefyd otosomal enciliol (cy)
  • doença autossómica recessiva (pt)
  • enfermedad autosómica recesiva (es)
  • maladie à transmission autosomique récessive (fr)
  • malaltia autosòmica recessiva (ca)
  • malattia autosomica recessiva (it)
  • nexwweşiya laşî bezîw (ku-latn)
  • заболевание с аутосомно-рецессивным типом наследования (ru)
  • اضطراب صبغي جسدي متنحي (ar)
  • 常染色体劣性疾患 (ja)
  • 常染色体隐性遗传病 (zh)
  • 상염색체 열성 질환 (ko)
  • аўтасомна-рэцэсіўнае захворваньне (be-tarask)
name
  • աուտոսոմ ռեցեսիվ հիվանդություն (hy)
  • Doença autossômica recessiva (pt-br)
  • Dziedziczenie autosomalne recesywne (pl)
  • autosomal recessive disease (en)
  • autosomalt recessiv sjukdom (nn)
  • avtosomna recisivna bolezen (sl)
  • aŭtosoma recesiva malsano (eo)
  • clefyd otosomal enciliol (cy)
  • doença autossómica recessiva (pt)
  • enfermedad autosómica recesiva (es)
  • maladie à transmission autosomique récessive (fr)
  • malaltia autosòmica recessiva (ca)
  • malattia autosomica recessiva (it)
  • nexwweşiya laşî bezîw (ku-latn)
  • заболевание с аутосомно-рецессивным типом наследования (ru)
  • اضطراب صبغي جسدي متنحي (ar)
  • 常染色体劣性疾患 (ja)
  • 常染色体隐性遗传病 (zh)
  • 상염색체 열성 질환 (ko)
  • аўтасомна-рэцэсіўнае захворваньне (be-tarask)
instance of
instance of
subclass of
subclass of
Google Knowledge Graph ID
has cause
Google Knowledge Graph ID
Google Knowledge Graph ID
  • /g/1239cv4p
has cause
ICD-9-CM
ICD-9-CM
  • 758.5
Commons category
Commons category
  • Autosomal recessive diseases
skos:altLabel
  • аўтасомнае рэцэсіўнае захворваньне (be-tarask)
  • Desordem genética autossômica recessiva (pt-br)
  • autosomal recessive hereditary disease (en)
  • autosomal recessive hereditary disorder (en)
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