@prefix jvr: . @prefix skos: . @prefix mesh: . @prefix dc: . @prefix xsd: . @prefix owl: . jvr:-LM2WLBTP-3 skos:prefLabel "Syndrome LEOPARD"@fr, "LEOPARD Syndrome"@en ; a mesh:Descriptor, skos:Concept ; skos:related jvr:-PZ3DDLBR-L . 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:-PZ3DDLBR-L skos:altLabel "von Recklinghausen's Disease"@en, "Neurofibromatosis I"@en, "Recklinghausen Disease of Nerve"@en, "Neurofibromatosis, Peripheral, NF1"@en, "Neurofibromatosis, Peripheral Type"@en, "von Recklinghausen Disease"@en, "Maladie de von Recklinghausen"@fr, "Neurogliomatose"@fr, "Neurofibromatose de type I"@fr, "Recklinghausens Disease of Nerve"@en, "Neurofibromatosis Type 1"@en, "Neurofibromatosis Type I"@en, "Neurofibromatose périphérique"@fr, "Maladie de Recklinghausen"@fr, "Peripheral Neurofibromatosis"@en, "NF-1 (NeuroFibromatose de type 1)"@fr, "Neurofibromatosis, Type I"@en, "Recklinghausen Disease, Nerve"@en, "NF1 (Neurofibromatosis 1)"@en, "NF1 (NeuroFibromatose de type 1)"@fr, "Neurofibromatosis, Type 1"@en, "Neurofibromatose de Recklinghausen"@fr, "Gliofibromatose"@fr, "Molluscum Fibrosum"@en, "Recklinghausen's Disease of Nerve"@en, "Neurofibromatose de type périphérique"@fr, "Neurofibromatosis, Peripheral, NF 1"@en, "Polyfibromatose neurocutanée pigmentaire"@fr ; mesh:allowableQualifier jvr:-BQ3W1P91-F, jvr:-RC3PND0F-S, jvr:-B6C87218-T, jvr:-KFM33PF8-L, jvr:-W6SQV79N-S, jvr:-P1X8SCQ6-K, jvr:-L6C0XPHT-4, jvr:-MDQBX560-1, jvr:-GXVR9QN8-P, jvr:-T6JZ48ZV-N, jvr:-Z9TSGBXH-4, jvr:-CB30NGKB-3, jvr:-BT300B3G-Q, jvr:-WQ00QWRG-J, jvr:-J9Z93VFN-9, jvr:-VG20R78F-K, jvr:-W6T67RP3-2, jvr:-SDPG013V-D, jvr:-XVHTZRCG-7, jvr:-S0CS1X5R-5, jvr:-JVKFK2NX-2, jvr:-SBNWSM1T-R, jvr:-DH7H9MJ2-N, jvr:-XV06LPML-W, jvr:-W4X1LN61-R, jvr:-ZJBZVRWR-8, jvr:-BBD0S71C-R, jvr:-NHL3D2X0-S, jvr:-KRXG97RR-5, jvr:-CSKTXWF5-F, jvr:-HPKB70N8-W, jvr:-WWJHCQRB-K, jvr:-SDXQ5280-F, jvr:-T1QJHLQ4-J ; skos:prefLabel "Neurofibromatose de type 1"@fr, "Neurofibromatosis 1"@en ; skos:related jvr:-W48W4FQK-H, jvr:-ZF50VMCJ-9, jvr:-LM2WLBTP-3, jvr:-VXBV1NCK-G ; a mesh:Descriptor, skos:Concept ; skos:hiddenLabel "Cafe-au-Lait Spots with Pulmonic Stenosis"@en, "Taches café-au-lait avec sténose pulmonaire"@fr, "Sténose pulmonaire avec taches café-au-lait"@fr, "Syndrome de Watson"@fr, "Watson Syndrome"@en, "Pulmonic Stenosis with Cafe-au-Lait Spots"@en ; dc:established "1992-01-01"^^xsd:date ; dc:modified "2018-06-29"^^xsd:date ; dc:created "1999-01-01"^^xsd:date ; owl:sameAs ; skos:definition "An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1014-18) There is overlap of clinical features with NOONAN SYNDROME in a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS). A syndrome characterized by the presence of PULMONARY STENOSIS; CAFE-AU-LAIT SPOTS; MENTAL RETARDATION; and short stature caused by mutations in the NF1 gene (GENES, NEUROFIBROMATOSIS 1)."@en ; skos:inScheme jvr: ; skos:broader jvr:-F3PSCGTG-4 . 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:-ZF50VMCJ-9 skos:prefLabel "Noonan Syndrome"@en, "Syndrome de Noonan"@fr ; a mesh:Descriptor, skos:Concept ; skos:related jvr:-PZ3DDLBR-L . 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:-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:-VXBV1NCK-G skos:prefLabel "Neurofibromin 1"@en, "Neurofibromine-1"@fr ; a mesh:Descriptor, skos:Concept ; skos:related jvr:-PZ3DDLBR-L . 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:-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:-F3PSCGTG-4 skos:prefLabel "Neurofibromatoses"@fr, "Neurofibromatoses"@en ; a mesh:Descriptor, skos:Concept ; skos:narrower jvr:-PZ3DDLBR-L . 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 . jvr:-W48W4FQK-H skos:prefLabel "Genes, Neurofibromatosis 1"@en, "Gènes nf1"@fr ; a mesh:Descriptor, skos:Concept ; skos:related jvr:-PZ3DDLBR-L .