@prefix jvr: . @prefix skos: . @prefix mesh: . @prefix dc: . @prefix xsd: . @prefix owl: . jvr:-P3QPZWKW-9 skos:prefLabel "Maladies démyélinisantes héréditaires du système nerveux central"@fr, "Hereditary Central Nervous System Demyelinating Diseases"@en ; a mesh:Descriptor, skos:Concept ; skos:narrower jvr:-DQKZFXBR-N . 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:-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:-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:-SB8VCC3Z-6 skos:prefLabel "Myelin Proteolipid Protein"@en, "Protéine protéolipidique myéline"@fr ; a mesh:Descriptor, skos:Concept ; skos:related jvr:-DQKZFXBR-N . 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:-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:-BL0Q8DS8-X skos:prefLabel "Maladies génétiques liées au chromosome X"@fr, "Genetic Diseases, X-Linked"@en ; a mesh:Descriptor, skos:Concept ; skos:narrower jvr:-DQKZFXBR-N . 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:-DQKZFXBR-N skos:prefLabel "Pelizaeus-Merzbacher Disease"@en, "Maladie de Pelizaeus-Merzbacher"@fr ; mesh:allowableQualifier jvr:-WWJHCQRB-K, jvr:-NHL3D2X0-S, jvr:-T1QJHLQ4-J, jvr:-Z9TSGBXH-4, jvr:-T6JZ48ZV-N, jvr:-XV06LPML-W, jvr:-GXVR9QN8-P, jvr:-SBNWSM1T-R, jvr:-VG20R78F-K, jvr:-ZJBZVRWR-8, jvr:-KRXG97RR-5, jvr:-BBD0S71C-R, jvr:-W6SQV79N-S, jvr:-HPKB70N8-W, jvr:-BQ3W1P91-F, jvr:-BT300B3G-Q, jvr:-SDXQ5280-F, jvr:-CB30NGKB-3, jvr:-CSKTXWF5-F, jvr:-W6T67RP3-2, jvr:-B6C87218-T, jvr:-JVKFK2NX-2, jvr:-RC3PND0F-S, jvr:-MDQBX560-1, jvr:-L6C0XPHT-4, jvr:-WQ00QWRG-J, jvr:-P1X8SCQ6-K, jvr:-W4X1LN61-R, jvr:-J9Z93VFN-9, jvr:-XVHTZRCG-7, jvr:-S0CS1X5R-5, jvr:-SDPG013V-D, jvr:-KFM33PF8-L, jvr:-DH7H9MJ2-N ; skos:hiddenLabel "Adult Pelizaeus-Merzbacher Disease"@en, "Transitional Pelizaeus-Merzbacher Disease"@en, "Maladie de Pelizaeus-Merzbacher classique"@fr, "Atypical Pelizaeus-Merzbacher Disease"@en, "Maladie de Pelizaeus-Merzbacher transitoire"@fr, "Pelizaeus-Merzbacher Disease, Transitional"@en, "Maladie de Pelizaeus-Merzbacher atypique"@fr, "Classic Pelizaeus-Merzbacher Disease"@en, "Cockayne-Pelizaeus-Merzbacher Disease"@en, "Pelizaeus-Merzbacher Disease, Classic"@en, "Maladie de Cockayne-Pelizaeus-Merzbacher"@fr, "Pelizaeus-Merzbacher Disease, Adult"@en, "Maladie de Pelizaeus-Merzbacher de l'adulte"@fr, "Pelizaeus-Merzbacher Disease, Atypical"@en ; skos:broader jvr:-BL0Q8DS8-X, jvr:-P3QPZWKW-9 ; dc:established "2000-01-01"^^xsd:date ; skos:altLabel "Pelizaeus-Merzbacher Sclerosis, Brain"@en, "Pelizaeus-Merzbacher Brain Sclerosis"@en, "Leucodystrophie hypomyélinisante de type 1"@fr, "Leukodystrophy, Hypomyelinating, 1"@en ; a skos:Concept, mesh:Descriptor ; dc:modified "2016-02-26"^^xsd:date ; skos:related jvr:-SB8VCC3Z-6 ; owl:sameAs ; skos:definition "A rare, slowly progressive disorder of myelin formation. Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. The classic form is X-chromosome linked, has its onset in infancy and is associated with a mutation of the proteolipid protein gene. Clinical manifestations include TREMOR, spasmus nutans, roving eye movements, ATAXIA, spasticity, and NYSTAGMUS, CONGENITAL. Death occurs by the third decade of life. The congenital form has similar characteristics but presents early in infancy and features rapid disease progression. Transitional and adult subtypes have a later onset and less severe symptomatology. Pathologic features include patchy areas of demyelination with preservation of perivascular islands (trigoid appearance). (From Menkes, Textbook of Child Neurology, 5th ed, p190)"@en ; dc:created "1999-11-04"^^xsd:date ; skos:inScheme jvr: . 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:-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 .