@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:-NV9J44NX-1 mesh:allowableQualifier jvr:-DH7H9MJ2-N, jvr:-VG20R78F-K, jvr:-WQ00QWRG-J, jvr:-SDPG013V-D, jvr:-SDXQ5280-F, jvr:-BT300B3G-Q, jvr:-NHL3D2X0-S, jvr:-SBNWSM1T-R, jvr:-CSKTXWF5-F, jvr:-Z9TSGBXH-4, jvr:-MDQBX560-1, jvr:-XV06LPML-W, jvr:-S0CS1X5R-5, jvr:-HPKB70N8-W, jvr:-B6C87218-T, jvr:-J9Z93VFN-9, jvr:-W6SQV79N-S, jvr:-W6T67RP3-2, jvr:-GXVR9QN8-P, jvr:-KFM33PF8-L, jvr:-WWJHCQRB-K, jvr:-JVKFK2NX-2, jvr:-T6JZ48ZV-N, jvr:-KRXG97RR-5, jvr:-W4X1LN61-R, jvr:-BQ3W1P91-F, jvr:-BBD0S71C-R, jvr:-L6C0XPHT-4, jvr:-ZJBZVRWR-8, jvr:-XVHTZRCG-7, jvr:-T1QJHLQ4-J, jvr:-CB30NGKB-3, jvr:-RC3PND0F-S, jvr:-P1X8SCQ6-K ; skos:altLabel "Hereditary Spinal Sclerosis"@en, "Ataxie spinale héréditaire de Friedreich"@fr, "Maladie de Friedreich"@fr, "Sclerosis, Hereditary Spinal"@en, "Friedreich Familial Ataxia"@en, "Friedreich's Hereditary Ataxia"@en, "Ataxie familiale de Friedreich"@fr, "Hereditary Spinal Ataxia, Friedreich"@en, "Friedreich's Hereditary Spinal Ataxia"@en, "Friedreich's Disease"@en, "Hereditary Spinal Ataxia, Friedreich's"@en, "Friedreich's Ataxia"@en, "Friedreich Hereditary Spinal Ataxia"@en, "Friedreich Disease"@en, "Friedreich Hereditary Ataxia"@en, "Friedreich Spinocerebellar Ataxia"@en, "Hérédodégénérescence spinocérébelleuse de Friedreich"@fr, "Friedreich's Familial Ataxia"@en, "Ataxie héréditaire de Friedreich"@fr, "Ataxie spinocérébelleuse de Friedreich"@fr ; skos:prefLabel "Ataxie de Friedreich"@fr, "Friedreich Ataxia"@en ; skos:inScheme jvr: ; dc:created "1999-01-01"^^xsd:date ; skos:definition "An autosomal recessive disease, usually of childhood onset, characterized pathologically by degeneration of the spinocerebellar tracts, posterior columns, and to a lesser extent the corticospinal tracts. Clinical manifestations include GAIT ATAXIA, pes cavus, speech impairment, lateral curvature of spine, rhythmic head tremor, kyphoscoliosis, congestive heart failure (secondary to a cardiomyopathy), and lower extremity weakness. Most forms of this condition are associated with a mutation in a gene on chromosome 9, at band q13, which codes for the mitochondrial protein frataxin. (From Adams et al., Principles of Neurology, 6th ed, p1081; N Engl J Med 1996 Oct 17;335(16):1169-75) The severity of Friedreich ataxia associated with expansion of GAA repeats in the first intron of the frataxin gene correlates with the number of trinucleotide repeats. (From Durr et al, N Engl J Med 1996 Oct 17;335(16):1169-75)"@en ; skos:broader jvr:-QV6F96CB-Q, jvr:-HPGQPSV4-N ; dc:modified "2013-07-08"^^xsd:date ; a mesh:Descriptor, skos:Concept ; dc:established "2000-01-01"^^xsd:date ; owl:sameAs . 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:-S0CS1X5R-5 skos:prefLabel "immunology (Qualifier)"@en, "immunologie (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-W6T67RP3-2 skos:prefLabel "diagnostic imaging (Qualifier)"@en, "imagerie diagnostique (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . 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:-QV6F96CB-Q skos:prefLabel "Mitochondrial Diseases"@en, "Maladies mitochondriales"@fr ; a mesh:Descriptor, skos:Concept ; skos:narrower jvr:-NV9J44NX-1 . jvr:-BBD0S71C-R skos:prefLabel "induit chimiquement (Qualificatif)"@fr, "chemically induced (Qualifier)"@en ; a mesh:Qualifier, skos:Concept . 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:-HPGQPSV4-N skos:prefLabel "Spinocerebellar Degenerations"@en, "Dégénérescences spinocérébelleuses"@fr ; a mesh:Descriptor, skos:Concept ; skos:narrower jvr:-NV9J44NX-1 . jvr:-JVKFK2NX-2 skos:prefLabel "nursing (Qualifier)"@en, "soins infirmiers (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept .