|
rdfs:label
|
"Aciduria fumarica"@it
"Acidúria fumárica"@pt
"Acidúria fumárica"@pt-br
"Defisiensi fumarase"@id
"Fumarazidurie"@de
"acidurie fumarique"@fr
"deficit de fumarazi"@vec
"fumarase deficiency"@en
"عوز الفوماراز"@ar
|
|
skos:altLabel
|
"Deficit di fumarasi"@it
"FMRD"@en
"FUMARASE DEFICIENCY; FMRD"@en
"Fumarase deficiency"@en
"Fumaric Aciduria"@en
"fumaric aciduria"@en
|
|
schema:description
|
"Penyakit langka"@id
"maladie génétique de transmission récessive, rare mais aux conséquences lourdes chez les enfants survivant aux malformations fœtales"@fr
"rare disease"@en
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|
schema:dateModified
|
"2026-10-23T23:44:32+00:00"^^xsd:dateTime
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|
schema:version
|
2560157864
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|
wikibase:identifiers
|
19
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wikibase:sitelinks
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6
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wikibase:statements
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49
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p:P665
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p:P699
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wd:statement/Q2823337-B7FE6A4F-A5B4-4F57-8F3A-5EBAD40E25B3
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p:P7464
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wd:statement/Q2823337-6489D395-0F44-4BF6-AA44-A18055D94DEA
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p:direct-normalized/P486
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<http://id.nlm.nih.gov/mesh/C538191>
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p:direct-normalized/P5270
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<http://purl.obolibrary.org/obo/MONDO_0011730>
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p:direct-normalized/P5806
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<http://snomed.info/id/237983002>
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p:direct-normalized/P6366
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<https://makg.org/entity/2778570182>
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<https://makg.org/entity/2909455262>
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p:direct-normalized/P665
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<http://www.kegg.jp/entry/H02004>
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p:direct-normalized/P699
|
<http://purl.obolibrary.org/obo/DOID_DOID:0111261>
|
|
wdt:P11143
|
"Fumarase deficiency"
|
|
wdt:P11430
|
"DI-01638"
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wdt:P1193
|
0.000001^^xsd:decimal
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wdt:P14914
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"D00024"
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wdt:P1550
|
"24"
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wdt:P1692
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"282.3"
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wd:Q418634
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wd:Q10267817
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wd:Q1337418
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wd:Q55786427
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wdt:P2841
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wd:Q21953125
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wd:Q21955199
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wdt:P2888
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<http://identifiers.org/doid/DOID:0111261>
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|
<http://purl.obolibrary.org/obo/DOID_0111261>
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wdt:P2892
|
"C0342770"
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"C2936826"
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wdt:P31
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wd:Q112193867
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wd:Q929833
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wdt:P492
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wd:Q4099686
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"MONDO_0011730"
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"237983002"
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wdt:P6366
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"2778570182"
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"2909455262"
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wdt:P646
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"/m/0c95kh"
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wdt:P6532
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wd:Q10859678
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wd:Q1135124
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wd:Q141816010
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wd:Q933716
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wdt:P665
|
"H02004"
|
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wdt:P699
|
"DOID:0111261"
|
|
wdt:P7464
|
"fumarase-deficiency"
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