@prefix jvr: . @prefix skos: . @prefix mesh: . @prefix dc: . @prefix xsd: . @prefix owl: . jvr:-DWT3Q63S-2 skos:prefLabel "Neuropathie héréditaire motrice et sensitive"@fr, "Hereditary Sensory and Motor Neuropathy"@en ; a mesh:Descriptor, skos:Concept ; skos:narrower jvr:-RM0ZQL2W-T . 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:-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:-RM0ZQL2W-T a mesh:Descriptor, skos:Concept ; skos:hiddenLabel "Autosomal Recessive Spastic Paraplegia, Hereditary"@en, "HMSN V (Hereditary Motor and Sensory Neuropathy Type V)"@en, "Hereditary Motor and Sensory Neuropathy 5"@en, "Hereditary Motor-Sensory Neuropathy with Pyramidal Signs"@en, "HMSN Type V"@en, "Spastic Paraplegia 2"@en, "Paraplégie spasmodique héréditaire autosomique dominante"@fr, "Paraplégie spastique héréditaire récessive liée à l'X"@fr, "HMSN V"@en, "CMT with Pyramidal Features"@en, "Hereditary Autosomal Dominant Spastic Paraplegia"@en, "X Linked Recessive Hereditary Spastic Paraplegia"@en, "Maladie de Charcot-Marie-Tooth autosomique dominante avec signes pyramidaux"@fr, "Autosomal Dominant Spastic Paraplegia Hereditary"@en, "Paraplégie spasmodique héréditaire récessive liée à l'X"@fr, "Spastic Paraplegia, Autosomal Dominant, Hereditary"@en, "X-Linked, Spastic Paraplegia, Hereditary"@en, "Hereditary, Spastic Paraplegia, Autosomal Dominant"@en, "Spastic Paraplegia, Autosomal Recessive, Hereditary"@en, "Hereditary X-Linked Recessive Spastic Paraplegia"@en, "Autosomal Dominant Hereditary Spastic Paraplegia"@en, "Spastic Paraplegia, Hereditary, Autosomal Dominant"@en, "Paraplégie spasmodique héréditaire liée à l'X"@fr, "X-linked Recessive Hereditary Spastic Paraplegia"@en, "HMSN 5"@en, "Hereditary Spastic Paraplegia, Autosomal Recessive"@en, "Charcot-Marie-Tooth Disease with Pyramidal Features, Autosomal Dominant"@en, "Spastic Paraplegia, Hereditary, Autosomal Recessive"@en, "Paraplégie spastique héréditaire autosomique récessive"@fr, "Paraplégie spastique héréditaire autosomique dominante"@fr, "Spastic Paraplegia Type 2"@en, "Paraplégie spasmodique héréditaire autosomique récessive"@fr, "Spastic Paraplegia, X-Linked Recessive, Hereditary"@en, "Hereditary, Spastic Paraplegia, X-Linked Recessive"@en, "Paraplégie spastique héréditaire liée à l'X"@fr, "Hereditary Motor And Sensory Neuropathy V"@en, "Peroneal Muscular Atrophy with Pyramidal Features, Autosomal Dominant"@en, "Type V Hereditary Motor and Sensory Neuropathy"@en, "Autosomal Recessive Hereditary Spastic Paraplegia"@en, "Hereditary Autosomal Recessive Spastic Paraplegia"@en, "Spastic Paraplegia, Hereditary, X-Linked Recessive"@en ; mesh:allowableQualifier jvr:-WWJHCQRB-K, jvr:-NHL3D2X0-S, jvr:-SDXQ5280-F, jvr:-SBNWSM1T-R, jvr:-CSKTXWF5-F, jvr:-W6SQV79N-S, jvr:-B6C87218-T, jvr:-WQ00QWRG-J, jvr:-XV06LPML-W, jvr:-Z9TSGBXH-4, jvr:-BQ3W1P91-F, jvr:-BBD0S71C-R, jvr:-T1QJHLQ4-J, jvr:-W6T67RP3-2, jvr:-J9Z93VFN-9, jvr:-S0CS1X5R-5, jvr:-MDQBX560-1, jvr:-XVHTZRCG-7, jvr:-T6JZ48ZV-N, jvr:-RC3PND0F-S, jvr:-GXVR9QN8-P, jvr:-VG20R78F-K, jvr:-HPKB70N8-W, jvr:-JVKFK2NX-2, jvr:-BT300B3G-Q, jvr:-P1X8SCQ6-K, jvr:-CB30NGKB-3, jvr:-DH7H9MJ2-N, jvr:-W4X1LN61-R, jvr:-KFM33PF8-L, jvr:-KRXG97RR-5, jvr:-L6C0XPHT-4, jvr:-SDPG013V-D, jvr:-ZJBZVRWR-8 ; skos:altLabel "Neuropathie sensitivomotrice héréditaire de type V"@fr, "NMSH de type V"@fr, "Hereditary Spastic Paraplegia"@en, "NMSH de type 5"@fr, "NHMS de type V"@fr, "Neuropathie héréditaire motrice et sensorielle de type V"@fr, "Paraplegia, Spastic, Hereditary"@en, "Neuropathie héréditaire motrice et sensitive de type 5"@fr, "Neuropathie sensitivo-motrice héréditaire de type 5"@fr, "Hypertrophic Motor-Sensory Neuropathy-Spastic Paraplegia"@en, "Neuropathie motrice et sensitive héréditaire de type V"@fr, "Neuropathie sensitivomotrice héréditaire de type 5"@fr, "Neuropathie héréditaire motrice et sensitive de type V"@fr, "Neuropathie sensitivo-motrice héréditaire de type V"@fr, "Paraplégie spastique héréditaire"@fr, "Spastic Paraplegia-Hypertrophic Motor-Sensory Neuropathy"@en, "NHMS de type 5"@fr, "Paraplégie spastique familiale"@fr ; dc:modified "2019-05-21"^^xsd:date ; dc:created "1988-06-07"^^xsd:date ; owl:sameAs ; skos:prefLabel "Spastic Paraplegia, Hereditary"@en, "Paraplégie spasmodique héréditaire"@fr ; dc:established "1991-01-01"^^xsd:date ; skos:definition "A group of inherited diseases that share similar phenotypes but are genetically diverse. Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified. Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. Peripheral sensory neurons may be affected in the later stages of the disease. (J Neurol Neurosurg Psychiatry 1998 Jan;64(1):61-6; Curr Opin Neurol 1997 Aug;10(4):313-8)"@en ; skos:inScheme jvr: ; skos:broader jvr:-DWT3Q63S-2 . 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 .