@prefix jvr: . @prefix skos: . @prefix mesh: . @prefix owl: . @prefix dc: . @prefix xsd: . jvr:-WWJHCQRB-K skos:prefLabel "surgery (Qualifier)"@en, "chirurgie (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-SDXQ5280-F skos:prefLabel "mortality (Qualifier)"@en, "mortalité (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-HPKB70N8-W skos:prefLabel "rehabilitation (Qualifier)"@en, "rééducation et réadaptation (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-VG20R78F-K skos:prefLabel "embryologie (Qualificatif)"@fr, "embryology (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-Z9TSGBXH-4 skos:prefLabel "génétique (Qualificatif)"@fr, "genetics (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-MQ2BL28X-C skos:prefLabel "Peroxisomal Disorders"@en, "Maladies péroxysomiales"@fr ; a mesh:Descriptor, skos:Concept ; skos:narrower jvr:-HM541ZMH-6 . jvr:-L6C0XPHT-4 skos:prefLabel "métabolisme (Qualificatif)"@fr, "metabolism (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-WQ00QWRG-J skos:prefLabel "physiopathologie (Qualificatif)"@fr, "physiopathology (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-DH7H9MJ2-N skos:prefLabel "anatomopathologie (Qualificatif)"@fr, "pathology (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-MDQBX560-1 skos:prefLabel "radiotherapy (Qualifier)"@en, "radiothérapie (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-ZJBZVRWR-8 skos:prefLabel "parasitologie (Qualificatif)"@fr, "parasitology (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-W6T67RP3-2 skos:prefLabel "diagnostic imaging (Qualifier)"@en, "imagerie diagnostique (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-B6C87218-T skos:prefLabel "prévention et contrôle (Qualificatif)"@fr, "prevention & control (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-BQ3W1P91-F skos:prefLabel "thérapie (Qualificatif)"@fr, "therapy (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-KRXG97RR-5 skos:prefLabel "diagnostic (Qualificatif)"@fr, "diagnosis (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-FXN56SPF-4 skos:prefLabel "Kidney Diseases"@en, "Maladies du rein"@fr ; a mesh:Descriptor, skos:Concept ; skos:narrower jvr:-HM541ZMH-6 . jvr:-J9Z93VFN-9 skos:prefLabel "enzymology (Qualifier)"@en, "enzymologie (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-T1QJHLQ4-J skos:prefLabel "microbiology (Qualifier)"@en, "microbiologie (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-KFM33PF8-L skos:prefLabel "médecine vétérinaire (Qualificatif)"@fr, "veterinary (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr: a skos:ConceptScheme . jvr:-BBD0S71C-R skos:prefLabel "induit chimiquement (Qualificatif)"@fr, "chemically induced (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-XVHTZRCG-7 skos:prefLabel "étiologie (Qualificatif)"@fr, "etiology (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-P1X8SCQ6-K skos:prefLabel "virologie (Qualificatif)"@fr, "virology (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-T6JZ48ZV-N skos:prefLabel "complications (Qualifier)"@en, "complications (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-SDPG013V-D skos:prefLabel "psychology (Qualifier)"@en, "psychologie (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-W6SQV79N-S skos:prefLabel "classification (Qualifier)"@en, "classification (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-GXVR9QN8-P skos:prefLabel "drug therapy (Qualifier)"@en, "traitement médicamenteux (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-S0CS1X5R-5 skos:prefLabel "immunology (Qualifier)"@en, "immunologie (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-CB30NGKB-3 skos:prefLabel "economics (Qualifier)"@en, "économie (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-HM541ZMH-6 mesh:allowableQualifier jvr:-L6C0XPHT-4, jvr:-NHL3D2X0-S, jvr:-HPKB70N8-W, jvr:-KFM33PF8-L, jvr:-W4X1LN61-R, jvr:-ZJBZVRWR-8, jvr:-CSKTXWF5-F, jvr:-Z9TSGBXH-4, jvr:-BBD0S71C-R, jvr:-T1QJHLQ4-J, jvr:-WWJHCQRB-K, jvr:-SDXQ5280-F, jvr:-J9Z93VFN-9, jvr:-B6C87218-T, jvr:-XVHTZRCG-7, jvr:-VG20R78F-K, jvr:-GXVR9QN8-P, jvr:-BT300B3G-Q, jvr:-DH7H9MJ2-N, jvr:-KRXG97RR-5, jvr:-P1X8SCQ6-K, jvr:-BQ3W1P91-F, jvr:-W6SQV79N-S, jvr:-CB30NGKB-3, jvr:-MDQBX560-1, jvr:-W6T67RP3-2, jvr:-SBNWSM1T-R, jvr:-WQ00QWRG-J, jvr:-XV06LPML-W, jvr:-RC3PND0F-S, jvr:-S0CS1X5R-5, jvr:-JVKFK2NX-2, jvr:-T6JZ48ZV-N, jvr:-SDPG013V-D ; skos:altLabel "Zellweger's Syndrome"@en, "Syndrome cérébro-hépato-rénal"@fr, "Cerebro-Hepato-Renal Syndrome"@en, "Zellweger Disease"@en, "Cerebrohepatorenal Syndrome"@en, "Maladie de Zellweger"@fr ; skos:prefLabel "Syndrome de Zellweger"@fr, "Zellweger Syndrome"@en ; skos:hiddenLabel "Zellweger Syndrome Spectrum"@en, "PBD, ZSS"@en, "Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum"@en, "Syndrome de type Zellweger"@fr, "Zellweger-Like Syndrome"@en, "Zellweger Spectrum"@en ; skos:inScheme jvr: ; a mesh:Descriptor, skos:Concept ; skos:broader jvr:-NZNP9637-N, jvr:-KRRXQ4T0-F, jvr:-W90HVV4Q-T, jvr:-FXN56SPF-4, jvr:-MQ2BL28X-C ; owl:sameAs ; skos:definition "An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 genes encoding peroxin proteins of the peroxisomal membrane and matrix. Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; MUSCLE HYPOTONIA; SENSORINEURAL HEARING LOSS; visual compromise; SEIZURES; progressive degeneration of the KIDNEYS and the LIVER. Zellweger-like syndrome refers to phenotypes resembling the neonatal Zellweger syndrome but seen in children or adults with apparently intact peroxisome biogenesis."@en ; dc:modified "2021-06-30"^^xsd:date ; dc:established "1989-01-01"^^xsd:date ; dc:created "1988-05-04"^^xsd:date . jvr:-CSKTXWF5-F skos:prefLabel "epidemiology (Qualifier)"@en, "épidémiologie (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-BT300B3G-Q skos:prefLabel "cerebrospinal fluid (Qualifier)"@en, "liquide cérébrospinal (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-KRRXQ4T0-F skos:prefLabel "Liver Diseases"@en, "Maladies du foie"@fr ; a mesh:Descriptor, skos:Concept ; skos:narrower jvr:-HM541ZMH-6 . jvr:-JVKFK2NX-2 skos:prefLabel "nursing (Qualifier)"@en, "soins infirmiers (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-W4X1LN61-R skos:prefLabel "diet therapy (Qualifier)"@en, "diétothérapie (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-W90HVV4Q-T skos:prefLabel "Abnormalities, Multiple"@en, "Malformations multiples"@fr ; a mesh:Descriptor, skos:Concept ; skos:narrower jvr:-HM541ZMH-6 . jvr:-RC3PND0F-S skos:prefLabel "ethnology (Qualifier)"@en, "ethnologie (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-XV06LPML-W skos:prefLabel "urine (Qualifier)"@en, "urine (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-NZNP9637-N skos:prefLabel "Encéphalopathies métaboliques congénitales"@fr, "Brain Diseases, Metabolic, Inborn"@en ; a mesh:Descriptor, skos:Concept ; skos:narrower jvr:-HM541ZMH-6 . jvr:-NHL3D2X0-S skos:prefLabel "sang (Qualificatif)"@fr, "blood (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-SBNWSM1T-R skos:prefLabel "history (Qualifier)"@en, "histoire (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept .