@prefix jvr: . @prefix skos: . @prefix mesh: . @prefix dc: . @prefix xsd: . @prefix owl: . jvr:-RC3PND0F-S skos:prefLabel "ethnology (Qualifier)"@en, "ethnologie (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:-VG20R78F-K skos:prefLabel "embryologie (Qualificatif)"@fr, "embryology (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-ZJBZVRWR-8 skos:prefLabel "parasitologie (Qualificatif)"@fr, "parasitology (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-L6C0XPHT-4 skos:prefLabel "métabolisme (Qualificatif)"@fr, "metabolism (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-KFM33PF8-L skos:prefLabel "médecine vétérinaire (Qualificatif)"@fr, "veterinary (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-GXVR9QN8-P skos:prefLabel "drug therapy (Qualifier)"@en, "traitement médicamenteux (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-MDQBX560-1 skos:prefLabel "radiotherapy (Qualifier)"@en, "radiothérapie (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-XV06LPML-W skos:prefLabel "urine (Qualifier)"@en, "urine (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-CSKTXWF5-F skos:prefLabel "epidemiology (Qualifier)"@en, "épidémiologie (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-SDPG013V-D skos:prefLabel "psychology (Qualifier)"@en, "psychologie (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-KRXG97RR-5 skos:prefLabel "diagnostic (Qualificatif)"@fr, "diagnosis (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-WWJHCQRB-K skos:prefLabel "surgery (Qualifier)"@en, "chirurgie (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-Z9TSGBXH-4 skos:prefLabel "génétique (Qualificatif)"@fr, "genetics (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-DH7H9MJ2-N skos:prefLabel "anatomopathologie (Qualificatif)"@fr, "pathology (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-T6JZ48ZV-N skos:prefLabel "complications (Qualifier)"@en, "complications (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:-HPKB70N8-W skos:prefLabel "rehabilitation (Qualifier)"@en, "rééducation et réadaptation (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:-WQ00QWRG-J skos:prefLabel "physiopathologie (Qualificatif)"@fr, "physiopathology (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:-S0CS1X5R-5 skos:prefLabel "immunology (Qualifier)"@en, "immunologie (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-GPCH3BKZ-5 skos:prefLabel "Ataxies spinocérébelleuses"@fr, "Spinocerebellar Ataxias"@en ; a mesh:Descriptor, skos:Concept ; skos:narrower jvr:-GFPLJZ9H-D . jvr:-BQ3W1P91-F skos:prefLabel "thérapie (Qualificatif)"@fr, "therapy (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-SDXQ5280-F skos:prefLabel "mortality (Qualifier)"@en, "mortalité (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-W6SQV79N-S skos:prefLabel "classification (Qualifier)"@en, "classification (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-CB30NGKB-3 skos:prefLabel "economics (Qualifier)"@en, "économie (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-XVHTZRCG-7 skos:prefLabel "étiologie (Qualificatif)"@fr, "etiology (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr: a skos:ConceptScheme . jvr:-SBNWSM1T-R skos:prefLabel "history (Qualifier)"@en, "histoire (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-T1QJHLQ4-J skos:prefLabel "microbiology (Qualifier)"@en, "microbiologie (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-BBD0S71C-R skos:prefLabel "induit chimiquement (Qualificatif)"@fr, "chemically induced (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-GFPLJZ9H-D a skos:Concept, mesh:Descriptor ; skos:hiddenLabel "Machado-Joseph Disease Type IV"@en, "Maladie de Machado-Joseph de type I"@fr, "Type III Machado-Joseph Disease"@en, "Type IV Machado-Joseph Disease"@en, "Machado-Joseph Disease Type II"@en, "Maladie de Machado-Joseph de type 1"@fr, "Type I Machado-Joseph Disease"@en, "Type II Machado-Joseph Disease"@en, "Machado-Joseph Disease Type I"@en, "Maladie de Machado-Joseph de type III"@fr, "Maladie de Machado-Joseph de type 4"@fr, "Maladie de Machado-Joseph de type II"@fr, "Maladie de Machado-Joseph de type IV"@fr, "Machado-Joseph Disease Type III"@en, "Maladie de Machado-Joseph de type 2"@fr, "Maladie de Machado-Joseph de type 3"@fr ; mesh:allowableQualifier jvr:-XV06LPML-W, jvr:-KRXG97RR-5, jvr:-B6C87218-T, jvr:-HPKB70N8-W, jvr:-SDXQ5280-F, jvr:-P1X8SCQ6-K, jvr:-MDQBX560-1, jvr:-W4X1LN61-R, jvr:-WQ00QWRG-J, jvr:-XVHTZRCG-7, jvr:-SDPG013V-D, jvr:-KFM33PF8-L, jvr:-ZJBZVRWR-8, jvr:-BQ3W1P91-F, jvr:-JVKFK2NX-2, jvr:-GXVR9QN8-P, jvr:-Z9TSGBXH-4, jvr:-WWJHCQRB-K, jvr:-CB30NGKB-3, jvr:-T6JZ48ZV-N, jvr:-SBNWSM1T-R, jvr:-W6SQV79N-S, jvr:-DH7H9MJ2-N, jvr:-NHL3D2X0-S, jvr:-BT300B3G-Q, jvr:-J9Z93VFN-9, jvr:-VG20R78F-K, jvr:-W6T67RP3-2, jvr:-L6C0XPHT-4, jvr:-RC3PND0F-S, jvr:-T1QJHLQ4-J, jvr:-CSKTXWF5-F, jvr:-S0CS1X5R-5, jvr:-BBD0S71C-R ; skos:inScheme jvr: ; skos:altLabel "Spinocerebellar Atrophy Type 3"@en, "Type 3 Spinocerebellar Ataxia"@en, "Ataxie spino-cérébelleuse de type 3"@fr, "Nervous System Azorean Disease"@en, "Spinocerebellar Atrophy III"@en, "Azorean Ataxia"@en, "Autosomal Dominant Striatonigral Degeneration"@en, "Azorean Disease, Nervous System"@en, "Spinocerebellar Ataxia Type 3"@en, "Azorean Disease (Machado-Joseph)"@en, "Spinocerebellar Ataxia-3"@en, "Nigrospinodentatal Degeneration"@en, "Joseph Azorean Disease"@en, "Ataxie spino-cérébelleuse de type III"@fr, "Spinocerebellar Ataxia 3"@en, "Azorean Disease"@en, "Azorean Neurologic Disease"@en, "Joseph Disease"@en, "Machado-Joseph Azorean Disease"@en, "Ataxie spinocérébelleuse de type III"@fr, "Ataxie spinocérébelleuse de type 3"@fr, "Striatonigral Degeneration, Autosomal Dominant"@en ; dc:modified "2016-06-28"^^xsd:date ; owl:sameAs ; skos:prefLabel "Machado-Joseph Disease"@en, "Maladie de Machado-Joseph"@fr ; dc:established "1994-01-01"^^xsd:date ; dc:created "1993-02-16"^^xsd:date ; skos:broader jvr:-GPCH3BKZ-5 ; skos:definition "A dominantly-inherited ATAXIA first described in people of Azorean and Portuguese descent, and subsequently identified in Brazil, Japan, China, and Australia. This disorder is classified as one of the SPINOCEREBELLAR ATAXIAS (Type 3) and has been associated with a mutation of the MJD1 gene on chromosome 14. Clinical features include progressive ataxia, DYSARTHRIA, postural instability, nystagmus, eyelid retraction, and facial FASCICULATIONS. DYSTONIA is prominent in younger patients (referred to as Type I Machado-Joseph Disease). Type II features ataxia and ocular signs; Type III features MUSCULAR ATROPHY and a sensorimotor neuropathy; and Type IV features extrapyramidal signs combined with a sensorimotor neuropathy. (From Clin Neurosci 1995;3(1):17-22; Ann Neurol 1998 Mar;43(3):288-96)"@en . jvr:-NHL3D2X0-S skos:prefLabel "sang (Qualificatif)"@fr, "blood (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-J9Z93VFN-9 skos:prefLabel "enzymology (Qualifier)"@en, "enzymologie (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-P1X8SCQ6-K skos:prefLabel "virologie (Qualificatif)"@fr, "virology (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . jvr:-JVKFK2NX-2 skos:prefLabel "nursing (Qualifier)"@en, "soins infirmiers (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept .