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Statements

Subject Item
dbpedia-fr:Cystinose
rdfs:label
داء سيستيني Cystinosis Cystynoza Cystinose Cystinose Cistinosi シスチノーシス 胱胺酸症 Cystinose
rdfs:comment
La cystinose est une maladie lysosomale dont il existe deux formes : rénale et extra rénale.
rdfs:seeAlso
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owl:sameAs
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prop-fr:locus
p13
dbo:wikiPageID
421320
dbo:wikiPageRevisionID
163002214
dbo:wikiPageWikiLink
dbpedia-fr:Acidose dbpedia-fr:Déshydratation_(médecine) dbpedia-fr:Photophobie dbpedia-fr:Hypothyroïdie dbpedia-fr:Chromosome_17_humain dbpedia-fr:Rein dbpedia-fr:Maladie_lysosomale dbpedia-fr:Polyurie dbpedia-fr:Dialyse dbpedia-fr:Néphropathie dbpedia-fr:Cystine dbpedia-fr:Cornée dbpedia-fr:Transmission_autosomique_récessive dbpedia-fr:Méthionine dbpedia-fr:Glomérule_rénal dbpedia-fr:Hormone_de_croissance dbpedia-fr:Lysosome dbpedia-fr:Diabète_sucré category-fr:Maladie_lysosomale dbpedia-fr:Leucocyte dbpedia-fr:Homozygote dbpedia-fr:Polydipsie dbpedia-fr:Hétérozygote dbpedia-fr:Transplantation_rénale n53:Nephropathic_cystenosis_NHGRI-79209.jpg dbpedia-fr:Syndrome_de_Fanconi dbpedia-fr:Délétion dbpedia-fr:Myopathie dbpedia-fr:Rein_artificiel category-fr:Maladie_génétique dbpedia-fr:Paire_de_bases dbpedia-fr:Cystéamine
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8077
dct:subject
category-fr:Maladie_lysosomale category-fr:Maladie_génétique
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prov:wasDerivedFrom
wikipedia-fr:Cystinose?oldid=163002214&ns=0
foaf:depiction
n30:Nephropathic_cystenosis_NHGRI-79209.jpg
prop-fr:chromosome
17
prop-fr:transmission
dbpedia-fr:Transmission_autosomique_récessive
prop-fr:allèle
Plus de 80
prop-fr:anticipation
Non
prop-fr:empreinte
Non
prop-fr:gène
CTNS
prop-fr:maladieLiée
Aucune
prop-fr:mim
219750 219900
prop-fr:monogénique
Oui
prop-fr:mutation
Ponctuelle
prop-fr:nomDeLaMaladie
Cystinose
prop-fr:prénatal
Possible
prop-fr:prévalence
1
prop-fr:pénétrance
Complète
dbo:thumbnail
n30:Nephropathic_cystenosis_NHGRI-79209.jpg?width=300
foaf:isPrimaryTopicOf
wikipedia-fr:Cystinose
dbo:abstract
La cystinose est une maladie lysosomale dont il existe deux formes : rénale et extra rénale.