@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:-JV80K55K-L skos:prefLabel "Sphingolipidoses"@fr, "Sphingolipidoses"@en ; a mesh:Descriptor, skos:Concept ; skos:narrower jvr:-HLT6W05B-B . jvr:-BQ3W1P91-F skos:prefLabel "thérapie (Qualificatif)"@fr, "therapy (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:-HLT6W05B-B mesh:allowableQualifier jvr:-XVHTZRCG-7, jvr:-W4X1LN61-R, jvr:-Z9TSGBXH-4, jvr:-SBNWSM1T-R, jvr:-W6SQV79N-S, jvr:-T6JZ48ZV-N, jvr:-L6C0XPHT-4, jvr:-WWJHCQRB-K, jvr:-HPKB70N8-W, jvr:-J9Z93VFN-9, jvr:-B6C87218-T, jvr:-T1QJHLQ4-J, jvr:-KRXG97RR-5, jvr:-JVKFK2NX-2, jvr:-CB30NGKB-3, jvr:-BQ3W1P91-F, jvr:-GXVR9QN8-P, jvr:-BBD0S71C-R, jvr:-SDPG013V-D, jvr:-P1X8SCQ6-K, jvr:-KFM33PF8-L, jvr:-WQ00QWRG-J, jvr:-W6T67RP3-2, jvr:-XV06LPML-W, jvr:-NHL3D2X0-S, jvr:-MDQBX560-1, jvr:-SDXQ5280-F, jvr:-RC3PND0F-S, jvr:-BT300B3G-Q, jvr:-ZJBZVRWR-8, jvr:-DH7H9MJ2-N, jvr:-S0CS1X5R-5, jvr:-VG20R78F-K, jvr:-CSKTXWF5-F ; skos:hiddenLabel "Maladie de Gaucher de type III"@fr, "Gaucher Disease, Neuronopathic"@en, "Maladie de Gaucher de type 1"@fr, "Gaucher Disease, Juvenile"@en, "Gaucher Disease, Infantile"@en, "Gaucher Disease, Noncerebral Juvenile"@en, "Gaucher Disease, Type 3"@en, "Chronic Gaucher Disease"@en, "GBA Deficiency"@en, "Subacute Neuronopathic Gaucher Disease"@en, "Type 1 Gaucher Disease"@en, "Acute Neuronopathic Gaucher Disease"@en, "Gaucher Disease, Type 1"@en, "Gaucher Disease, Acute Neuronopathic"@en, "Gaucher Disease, Subacute Neuronopathic Form"@en, "Type 2 Gaucher Disease"@en, "Maladie de Gaucher de type 3 subaigu neuropathique"@fr, "Gaucher Disease, Type I"@en, "Gaucher Disease, Type II"@en, "Maladie de Gaucher de type 2 aigu neuronopathique"@fr, "Gaucher Disease Type 3"@en, "Gaucher Disease, Juvenile and Adult, Cerebral"@en, "Gaucher Disease, Type III"@en, "Gaucher Disease, Type 2"@en, "Type 3 Gaucher Disease"@en, "Infantile Gaucher Disease"@en, "Maladie de Gaucher de type II"@fr, "Gaucher Disease Type 2"@en, "Gaucher Disease, Infantile Cerebral"@en, "Maladie de Gaucher de type 3 neurologique subaigu"@fr, "Gaucher Disease, Subacute Neuronopathic Type"@en, "Maladie de Gaucher de type 3"@fr, "Gaucher Disease Type 1"@en, "Gaucher Disease, Chronic"@en, "Maladie de Gaucher chronique"@fr, "Maladie de Gaucher de type 2"@fr, "Gaucher Disease, Acute Neuronopathic Type"@en, "Gaucher Disease, Non-Neuronopathic Form"@en, "Maladie de Gaucher de type 1 non neuropathique"@fr, "Maladie de Gaucher de type I"@fr, "Neuronopathic Gaucher Disease"@en, "Gaucher Disease, Chronic Neuronopathic Type"@en, "Non-Neuronopathic Gaucher Disease"@en ; skos:altLabel "Cerebroside Lipidosis Syndrome"@en, "Gaucher Syndrome"@en, "Glucosylceramide Lipidosis"@en, "Gaucher's Disease"@en, "Glucosylceramide Beta-Glucosidase Deficiency Disease"@en, "Acid beta-Glucosidase Deficiency"@en, "Sphingolipidose héréditaire de Gaucher"@fr, "Glucosyl Cerebroside Lipidosis"@en, "Glucocerebrosidase Deficiency Disease"@en, "Kerasin Lipoidosis"@en, "Glucosylceramide Beta-Glucosidase Deficiency"@en, "Glucosylceramidase Deficiency"@en, "Déficit en bêta-glucocérébrosidase"@fr, "Acid beta-Glucosidase Deficiency Disease"@en, "Gaucher Splenomegaly"@en, "Kerasin thesaurismosis"@en, "Gauchers Disease"@en, "Lipoid Histiocytosis (Kerasin Type)"@en, "Glucocerebrosidosis"@en, "Glucocerebrosidase Deficiency"@en, "Kerasin Histiocytosis"@en ; skos:broader jvr:-JV80K55K-L ; a mesh:Descriptor, skos:Concept ; skos:definition "An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement. This type shows moderate to severe neurological effect in childhood. This type afflicts both children and adults who show no neurological effect. It is more prevalent in people of Ashkenazi Jewish ancestry. This type usually shows severe neurological effect in the first year of life."@en ; dc:established "2000-01-01"^^xsd:date ; skos:prefLabel "Gaucher Disease"@en, "Maladie de Gaucher"@fr ; dc:created "1999-01-01"^^xsd:date ; dc:modified "2021-07-01"^^xsd:date ; skos:inScheme jvr: ; skos:related jvr:-KQ4MC911-3 ; owl:sameAs . 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:-KQ4MC911-3 skos:prefLabel "Glucosylceramidase"@fr, "Glucosylceramidase"@en ; a mesh:Descriptor, skos:Concept ; skos:related jvr:-HLT6W05B-B . 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 .