@prefix jvr: . @prefix skos: . @prefix mesh: . @prefix owl: . @prefix dc: . @prefix xsd: . 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:-PL3BJRBV-2 mesh:allowableQualifier jvr:-VG20R78F-K, jvr:-J9Z93VFN-9, jvr:-B6C87218-T, jvr:-XVHTZRCG-7, jvr:-GXVR9QN8-P, jvr:-T1QJHLQ4-J, jvr:-KRXG97RR-5, jvr:-HPKB70N8-W, jvr:-SDPG013V-D, jvr:-T6JZ48ZV-N, jvr:-XV06LPML-W, jvr:-NHL3D2X0-S, jvr:-L6C0XPHT-4, jvr:-W6SQV79N-S, jvr:-BBD0S71C-R, jvr:-Z9TSGBXH-4, jvr:-P1X8SCQ6-K, jvr:-WWJHCQRB-K, jvr:-W6T67RP3-2, jvr:-MDQBX560-1, jvr:-RC3PND0F-S, jvr:-SBNWSM1T-R, jvr:-ZJBZVRWR-8, jvr:-BT300B3G-Q, jvr:-CB30NGKB-3, jvr:-S0CS1X5R-5, jvr:-WQ00QWRG-J, jvr:-DH7H9MJ2-N, jvr:-W4X1LN61-R, jvr:-JVKFK2NX-2, jvr:-BQ3W1P91-F, jvr:-SDXQ5280-F, jvr:-CSKTXWF5-F, jvr:-KFM33PF8-L ; skos:altLabel "Céroïde lipofuschinoses neuronales"@fr, "Ceroid-Lipofuscinosis, Neuronal"@en, "Céroïde lipofuscinose neuronale"@fr, "Céroïdes lipofuscinoses neuronales"@fr, "CLN (Céroïde lipofuscinose neuronale)"@fr, "Lipofuscin Storage Disease"@en, "Ceroid Storage Disease"@en, "Neuronal Ceroid-Lipofuscinosis"@en, "Neuronal Ceroid Lipofuscinosis"@en, "Céroïdes lipofuschinoses neuronales"@fr, "Céroïde-lipofuscinoses neuronales"@fr, "Lipofuscinosis, Neuronal Ceroid"@en, "Céroïde lipofuschinose neuronale"@fr, "Lipofuscinoses céroïdes"@fr ; skos:hiddenLabel "Neuronal Ceroid Lipofuscinosis, Juvenile"@en, "Maladie de Hagberg-Santavuori"@fr, "Kufs Disease Autosomal Recessive"@en, "Kufs Disease"@en, "Neuronal Ceroid Lipofuscinosis, Late-Infantile"@en, "Ceroid Lipofuscinosis, Neuronal, 3"@en, "Céroïde-lipofuscinose neuronale infantile"@fr, "Juvenile Neuronal Ceroid Lipofuscinosis"@en, "Kufs Disease, Autosomal Recessive"@en, "Céroïde-lipofuscinose neuronale juvénile"@fr, "Céroïde-lipofuscinose neuronale infantile tardive"@fr, "Ceroid Lipofuscinosis, Neuronal, Parry Type"@en, "Kufs Disease, Autosomal Dominant"@en, "CLN4"@fr, "Jansky-Bielschowsky Disease"@en, "Vogt-Spielmeyer Disease"@en, "Céroïde lipofuscinose neuronale infantile"@fr, "Ceroid Lipofuscinosis, Neuronal 4"@en, "Neuronal Ceroid Lipofuscinosis, Adult"@en, "Kuf's Disease"@en, "Santavuori-Haltia Disease"@en, "Céroïde lipofuschinose neuronale juvénile"@fr, "Infantile Neuronal Ceroid Lipofuscinosis"@en, "Céroïde lipofuscinose neuronale de l'adulte"@fr, "Ceroid Lipofuscinosis, Neuronal 3, Juvenile"@en, "Spielmeyer-Sjogren Disease"@en, "Céroïde lipofuschinose neuronale infantile tardive"@fr, "Spielmeyer-Vogt Disease"@en, "Neuronal Ceroid Lipofuscinosis Juvenile Type"@en, "Céroïde lipofuscinose neuronale juvénile"@fr, "Céroïde-lipofuscinose neuronale de l'adulte"@fr, "Ceroid Lipofuscinosis, Neuronal, 4B, Autosomal Dominant"@en, "CLN4B"@en, "CLN3-Related Neuronal Ceroid-Lipofuscinosis"@en, "Ceroid Lipofuscinosis, Neuronal, 4A, Autosomal Recessive"@en, "Neuronal Ceroid Lipofuscinosis, Infantile"@en, "Batten Disease"@en, "CLN1"@fr, "Batten-Spielmeyer-Vogt Disease"@en, "Neuronal Ceroid Lipofuscinosis, Late Infantile"@en, "Céroïde lipofuschinose neuronale de l'adulte"@fr, "CLN2"@fr, "Adult Neuronal Ceroid Lipofuscinosis"@en, "Vogt Spielmeyer Disease"@en, "Late-Infantile Neuronal Ceroid Lipofuscinosis"@en, "Juvenile Batten Disease"@en, "CLN4A"@en, "Céroïde lipofuschinose neuronale infantile"@fr, "Kufs Type Neuronal Ceroid Lipofuscinosis"@en, "Maladie de Kufs"@fr, "Batten-Mayou Disease"@en, "Maladie de Jansky-Bielschowsky"@fr, "Céroïde lipofuscinose neuronale infantile tardive"@fr, "Amaurotic Idiocy, Adult Type"@en, "Juvenile Cerebroretinal Degeneration"@en, "Neuronal Ceroid Lipofuscinosis, Adult Type"@en, "CLN3"@fr, "Maladie de Batten-Mayou"@fr, "Maladie de Santavuori-Haltia"@fr, "Maladie de Spielmeyer-Vogt"@fr ; a mesh:Descriptor, skos:Concept ; skos:broader jvr:-JXB87Q1F-Q, jvr:-HG14XFGX-2 ; skos:prefLabel "Céroïdes-lipofuscinoses neuronales"@fr, "Neuronal Ceroid-Lipofuscinoses"@en ; skos:definition "A group of severe neurodegenerative diseases characterized by intracellular accumulation of autofluorescent wax-like lipid materials (CEROID; LIPOFUSCIN) in neurons. There are several subtypes based on mutations of the various genes, time of disease onset, and severity of the neurological defects such as progressive DEMENTIA; SEIZURES; and visual failure. This type is caused by mutation in the CLN2 gene encoding tripeptidyl-peptidase I, a lysosomal serine protease. This type is caused by mutation in the CLN3 gene encoding a lysosomal integral membrane protein (Battenin). This type is caused by mutation in the gene (CLN1or PPT1) encoding palmitoyl-protein thioesterase (THIOLESTER HYDROLASES), an enzyme involved in catabolism of lipid-modified proteins."@en ; owl:sameAs ; dc:created "1982-04-28"^^xsd:date ; dc:established "1983-01-01"^^xsd:date ; dc:modified "2021-06-30"^^xsd:date ; skos:inScheme jvr: . 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:-MDQBX560-1 skos:prefLabel "radiotherapy (Qualifier)"@en, "radiothérapie (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:-HG14XFGX-2 skos:prefLabel "Lipidoses"@fr, "Lipidoses"@en ; a mesh:Descriptor, skos:Concept ; skos:narrower jvr:-PL3BJRBV-2 . 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:-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:-JXB87Q1F-Q skos:prefLabel "Maladies neurodégénératives héréditaires"@fr, "Heredodegenerative Disorders, Nervous System"@en ; a mesh:Descriptor, skos:Concept ; skos:narrower jvr:-PL3BJRBV-2 . jvr:-JVKFK2NX-2 skos:prefLabel "nursing (Qualifier)"@en, "soins infirmiers (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept .