@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:-WD8XP421-8 mesh:allowableQualifier jvr:-SDXQ5280-F, jvr:-B6C87218-T, jvr:-BBD0S71C-R, jvr:-J9Z93VFN-9, jvr:-L6C0XPHT-4, jvr:-CSKTXWF5-F, jvr:-Z9TSGBXH-4, jvr:-WQ00QWRG-J, jvr:-BT300B3G-Q, jvr:-W4X1LN61-R, jvr:-NHL3D2X0-S, jvr:-CB30NGKB-3, jvr:-GXVR9QN8-P, jvr:-SBNWSM1T-R, jvr:-P1X8SCQ6-K, jvr:-XVHTZRCG-7, jvr:-XV06LPML-W, jvr:-WWJHCQRB-K, jvr:-S0CS1X5R-5, jvr:-DH7H9MJ2-N, jvr:-JVKFK2NX-2, jvr:-KFM33PF8-L, jvr:-W6SQV79N-S, jvr:-BQ3W1P91-F, jvr:-SDPG013V-D, jvr:-MDQBX560-1, jvr:-W6T67RP3-2, jvr:-HPKB70N8-W, jvr:-VG20R78F-K, jvr:-T1QJHLQ4-J, jvr:-ZJBZVRWR-8, jvr:-RC3PND0F-S, jvr:-T6JZ48ZV-N, jvr:-KRXG97RR-5 ; dc:created "1993-02-16"^^xsd:date ; skos:altLabel "Spongy Degeneration of White Matter In Infancy"@en, "Leukodystrophy, Spongiform"@en, "Van Bogaert-Bertrand Syndrome"@en, "Von Bogaert-Bertrand Disease"@en, "Canavan-van Bogaert-Bertrand Disease"@en, "Déficit en aspartoacylase"@fr, "Spongy Degeneration of Infancy"@en, "Maladie de Canavan-von Bogaërt"@fr, "Spongy Degeneration of the Brain"@en, "Spongy Degeneration Of Central Nervous System"@en, "Spongy Disease of Central Nervous System"@en, "Spongy Degeneration of the Central Nervous System"@en, "Spongy Disease of White Matter"@en, "Dégénérescence spongieuse du système nerveux central"@fr ; skos:hiddenLabel "Canavan Disease, Type I"@en, "Maladie de Canavan de type 2"@fr, "Type II Canavan Disease"@en, "Canavan Disease, Familial Form"@en, "Aspartoacylase Deficiency"@en, "Canavan Disease, Juvenile"@en, "Maladie de Canavan de type I"@fr, "Maladie de Canavan de type II"@fr, "Type I Canavan Disease"@en, "Deficiency Disease, Aspartoacylase"@en, "Aminoacylase 2 Deficiency"@en, "Forme juvénile de la maladie de Canavan"@fr, "Maladie de Canavan de type 1"@fr, "Maladie de Canavan de type III"@fr, "Canavan Disease, Type II"@en, "ACY2 Deficiency"@en, "Canavan Disease, Type III"@en, "Neonatal Canavan Disease"@en, "Maladie de Canavan de type 3"@fr, "ASP Deficiency"@en, "Canavan Disease, Sporadic Form"@en, "ASPA Deficiency"@en, "Forme familiale de la maladie de Canavan"@fr, "Canavan Disease, Neonatal"@en, "Juvenile Canavan Disease"@en, "Sporadic Form of Canavan Disease"@en, "Infantile Canavan Disease"@en, "Canavan Disease, Infantile"@en, "Maladie de Canavan néonatale"@fr, "Maladie de Canavan juvénile"@fr, "Type III Canavan Disease"@en, "Forme sporadique de la maladie de Canavan"@fr, "Familial Form of Canavan Disease"@en ; skos:broader jvr:-P3QPZWKW-9 ; dc:established "1994-01-01"^^xsd:date ; skos:definition "A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demeylination that gives rise to a spongy appearance. Aspartoacylase deficiency leads to an accumulation of N-acetylaspartate in astrocytes. Inheritance may be autosomal recessive or the illness may occur sporadically. This illness occurs more frequently in individuals of Ashkenazic Jewish descent. The neonatal form features the onset of hypotonia and lethargy at birth, rapidly progressing to coma and death. The infantile form features developmental delay, DYSKINESIAS, hypotonia, spasticity, blindness, and megalencephaly. The juvenile form is characterized by ATAXIA; OPTIC ATROPHY; and DEMENTIA. (From Adams et al., Principles of Neurology, 6th ed, p944; Am J Med Genet 1988 Feb;29(2):463-71)"@en ; dc:modified "2019-05-24"^^xsd:date ; a skos:Concept, mesh:Descriptor ; owl:sameAs ; skos:prefLabel "Maladie de Canavan"@fr, "Canavan Disease"@en ; skos:inScheme jvr: . 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:-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:-WD8XP421-8 . 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:-CB30NGKB-3 skos:prefLabel "economics (Qualifier)"@en, "économie (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-W6SQV79N-S skos:prefLabel "classification (Qualifier)"@en, "classification (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:-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 .