@prefix jvr: <http://data.loterre.fr/ark:/67375/JVR> .
@prefix skos: <http://www.w3.org/2004/02/skos/core#> .
@prefix mesh: <http://id.nlm.nih.gov/mesh/vocab#> .
@prefix dc: <http://purl.org/dc/terms/> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .

jvr:-MLCKXF72-M
  skos:prefLabel "Kallmann Syndrome"@en, "Syndrome de Kallmann"@fr ;
  a mesh:Descriptor, skos:Concept ;
  skos:broader jvr:-R490QF7F-9 .

jvr:-K4CNPPTJ-D
  skos:prefLabel "Syndrome d'Alagille"@fr, "Alagille Syndrome"@en ;
  a mesh:Descriptor, skos:Concept ;
  skos:broader jvr:-R490QF7F-9 .

jvr:-SDXQ5280-F
  skos:prefLabel "mortality (Qualifier)"@en, "mortalité (Qualificatif)"@fr ;
  a mesh:Qualifier, skos:Concept .

jvr:-WWJHCQRB-K
  skos:prefLabel "surgery (Qualifier)"@en, "chirurgie (Qualificatif)"@fr ;
  a mesh:Qualifier, skos:Concept .

jvr:-LPK2347Q-R
  skos:prefLabel "Cardiomyopathie hypertrophique familiale"@fr, "Cardiomyopathy, Hypertrophic, Familial"@en ;
  a mesh:Descriptor, skos:Concept ;
  skos:broader jvr:-R490QF7F-9 .

jvr:-HPKB70N8-W
  skos:prefLabel "rehabilitation (Qualifier)"@en, "rééducation et réadaptation (Qualificatif)"@fr ;
  a mesh:Qualifier, skos:Concept .

jvr:-D5JD0KJL-V
  skos:prefLabel "Frasier Syndrome"@en, "Syndrome de Frasier"@fr ;
  a mesh:Descriptor, skos:Concept ;
  skos:broader jvr:-R490QF7F-9 .

jvr:-VG20R78F-K
  skos:prefLabel "embryologie (Qualificatif)"@fr, "embryology (Qualifier)"@en ;
  a mesh:Qualifier, skos:Concept .

jvr:-Z9TSGBXH-4
  skos:prefLabel "génétique (Qualificatif)"@fr, "genetics (Qualifier)"@en ;
  a mesh:Qualifier, skos:Concept .

jvr:-PJ9KTHCL-G
  skos:prefLabel "Metabolism, Inborn Errors"@en, "Erreurs innées du métabolisme"@fr ;
  a mesh:Descriptor, skos:Concept ;
  skos:broader jvr:-R490QF7F-9 .

jvr:-XP1X9NVQ-L
  skos:prefLabel "Lennox Gastaut Syndrome"@en, "Syndrome de Lennox-Gastaut"@fr ;
  a mesh:Descriptor, skos:Concept ;
  skos:broader jvr:-R490QF7F-9 .

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:-ZJGZ0746-7
  skos:prefLabel "Mucoviscidose"@fr, "Cystic Fibrosis"@en ;
  a mesh:Descriptor, skos:Concept ;
  skos:broader jvr:-R490QF7F-9 .

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:-V2Z38MHB-L
  skos:prefLabel "Syndromes néoplasiques héréditaires"@fr, "Neoplastic Syndromes, Hereditary"@en ;
  a mesh:Descriptor, skos:Concept ;
  skos:broader jvr:-R490QF7F-9 .

jvr:-ZJBZVRWR-8
  skos:prefLabel "parasitologie (Qualificatif)"@fr, "parasitology (Qualifier)"@en ;
  a mesh:Qualifier, skos:Concept .

jvr:-VXNTZZFL-J
  skos:prefLabel "Hajdu-Cheney Syndrome"@en, "Syndrome de Hajdu-Cheney"@fr ;
  a mesh:Descriptor, skos:Concept ;
  skos:broader jvr:-R490QF7F-9 .

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:-XXK7J0FK-N
  skos:prefLabel "Syndrome de Werner"@fr, "Werner Syndrome"@en ;
  a mesh:Descriptor, skos:Concept ;
  skos:broader jvr:-R490QF7F-9 .

jvr:-Q3MG9PPN-M
  skos:prefLabel "Osteochondrodysplasias"@en, "Ostéochondrodysplasies"@fr ;
  a mesh:Descriptor, skos:Concept ;
  skos:broader jvr:-R490QF7F-9 .

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:-JXB87Q1F-Q
  skos:prefLabel "Maladies neurodégénératives héréditaires"@fr, "Heredodegenerative Disorders, Nervous System"@en ;
  a mesh:Descriptor, skos:Concept ;
  skos:broader jvr:-R490QF7F-9 .

jvr:-LDV5J17R-9
  skos:prefLabel "Anemia, Hemolytic, Congenital"@en, "Anémie hémolytique congénitale"@fr ;
  a mesh:Descriptor, skos:Concept ;
  skos:broader jvr:-R490QF7F-9 .

jvr:-SH1X0BVS-3
  skos:prefLabel "Syndrome de Marfan"@fr, "Marfan Syndrome"@en ;
  a mesh:Descriptor, skos:Concept ;
  skos:broader jvr:-R490QF7F-9 .

jvr:-K1D70ZRP-J
  skos:prefLabel "Maladies d'immunodéficience primaire"@fr, "Primary Immunodeficiency Diseases"@en ;
  a mesh:Descriptor, skos:Concept ;
  skos:broader jvr:-R490QF7F-9 .

jvr:-R0FNLV2B-2
  skos:prefLabel "Eye Diseases, Hereditary"@en, "Maladies héréditaires de l'oeil"@fr ;
  a mesh:Descriptor, skos:Concept ;
  skos:broader jvr:-R490QF7F-9 .

jvr:-J9Z93VFN-9
  skos:prefLabel "enzymology (Qualifier)"@en, "enzymologie (Qualificatif)"@fr ;
  a mesh:Qualifier, skos:Concept .

jvr:-Q8W7HLTJ-3
  skos:prefLabel "CADASIL"@en, "CADASIL"@fr ;
  a mesh:Descriptor, skos:Concept ;
  skos:broader jvr:-R490QF7F-9 .

jvr:-GHDSRFGG-9
  skos:prefLabel "Maladies génétiques liées au chromosome Y"@fr, "Genetic Diseases, Y-Linked"@en ;
  a mesh:Descriptor, skos:Concept ;
  skos:broader jvr:-R490QF7F-9 .

jvr:-R490QF7F-9
  skos:narrower jvr:-ZJGZ0746-7, jvr:-C32HW0L3-8, jvr:-SH1X0BVS-3, jvr:-VXNTZZFL-J, jvr:-MLCKXF72-M, jvr:-FT2R6V4S-W, jvr:-TZKJJ296-C, jvr:-XFTT95WR-K, jvr:-B58GHXV9-W, jvr:-PZ1M1CCG-X, jvr:-Q3MG9PPN-M, jvr:-LDV5J17R-9, jvr:-RTSHNPV7-9, jvr:-QTG9QSQQ-G, jvr:-V2Z38MHB-L, jvr:-VJ1M4GRP-0, jvr:-L3H5T57R-W, jvr:-NM1HJTG3-R, jvr:-K4CNPPTJ-D, jvr:-N4G0TQH1-N, jvr:-CS1KZF68-9, jvr:-K72Z90GZ-L, jvr:-PRVF5NTN-K, jvr:-R0FNLV2B-2, jvr:-LCCP1P97-K, jvr:-XL91ZWZ6-R, jvr:-XP1X9NVQ-L, jvr:-JXB87Q1F-Q, jvr:-CJ9KSSDC-4, jvr:-DSQ5R9HN-B, jvr:-XD1F4DRZ-Q, jvr:-P9JNKZHS-3, jvr:-D5JD0KJL-V, jvr:-XXK7J0FK-N, jvr:-GHDSRFGG-9, jvr:-PJ9KTHCL-G, jvr:-Q8W7HLTJ-3, jvr:-K1D70ZRP-J, jvr:-QJ1M83H5-6, jvr:-KL2XJHX5-7, jvr:-LPK2347Q-R, jvr:-BL0Q8DS8-X, jvr:-R7P0HLSM-3 ;
  mesh:allowableQualifier jvr:-S0CS1X5R-5, jvr:-CB30NGKB-3, jvr:-XV06LPML-W, jvr:-B6C87218-T, jvr:-BT300B3G-Q, jvr:-WWJHCQRB-K, jvr:-MDQBX560-1, jvr:-KFM33PF8-L, jvr:-CSKTXWF5-F, jvr:-SBNWSM1T-R, jvr:-W6SQV79N-S, jvr:-W4X1LN61-R, jvr:-KRXG97RR-5, jvr:-WQ00QWRG-J, jvr:-J9Z93VFN-9, jvr:-DH7H9MJ2-N, jvr:-HPKB70N8-W, jvr:-NHL3D2X0-S, jvr:-XVHTZRCG-7, jvr:-T6JZ48ZV-N, jvr:-SDPG013V-D, jvr:-RC3PND0F-S, jvr:-BQ3W1P91-F, jvr:-BBD0S71C-R, jvr:-W6T67RP3-2, jvr:-T1QJHLQ4-J, jvr:-GXVR9QN8-P, jvr:-VG20R78F-K, jvr:-SDXQ5280-F, jvr:-P1X8SCQ6-K, jvr:-Z9TSGBXH-4, jvr:-ZJBZVRWR-8, jvr:-JVKFK2NX-2, jvr:-L6C0XPHT-4 ;
  a mesh:Descriptor, skos:Concept ;
  skos:hiddenLabel "Single-Gene Defects"@en, "Génopathies monogéniques"@fr, "Maladies monogéniques"@fr, "Maladie héréditaire"@fr, "Hereditary Disease"@en, "Genetic Diseases"@en, "Maladies héréditaires"@fr, "Anomalies monogéniques"@fr, "Hereditary Diseases"@en, "Genetic Disorders"@en ;
  skos:inScheme jvr: ;
  dc:created "2001-07-25"^^xsd:date ;
  owl:sameAs <http://id.nlm.nih.gov/mesh/D030342> ;
  skos:prefLabel "Genetic Diseases, Inborn"@en, "Maladies génétiques congénitales"@fr ;
  skos:altLabel "Inborn Genetic Diseases"@en, "Génopathies"@fr ;
  skos:definition "Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. Diseases caused by genetic mutations that are inherited from a parent's genome."@en ;
  dc:modified "2016-06-09"^^xsd:date ;
  skos:broader jvr:-KZ0ZTRBL-8 ;
  dc:established "2002-01-01"^^xsd:date ;
  skos:related jvr:-B8PBJMT7-G .

jvr:-NM1HJTG3-R
  skos:prefLabel "Syndrome de Loeys-Dietz"@fr, "Loeys-Dietz Syndrome"@en ;
  a mesh:Descriptor, skos:Concept ;
  skos:broader jvr:-R490QF7F-9 .

jvr:-R7P0HLSM-3
  skos:prefLabel "Ciliopathies"@en, "Ciliopathies"@fr ;
  a mesh:Descriptor, skos:Concept ;
  skos:broader jvr:-R490QF7F-9 .

jvr:-QTG9QSQQ-G
  skos:prefLabel "Laminopathies"@fr, "Laminopathies"@en ;
  a mesh:Descriptor, skos:Concept ;
  skos:broader jvr:-R490QF7F-9 .

jvr:-T1QJHLQ4-J
  skos:prefLabel "microbiology (Qualifier)"@en, "microbiologie (Qualificatif)"@fr ;
  a mesh:Qualifier, skos:Concept .

jvr:-XL91ZWZ6-R
  skos:prefLabel "Syndrome de Donohue"@fr, "Donohue Syndrome"@en ;
  a mesh:Descriptor, skos:Concept ;
  skos:broader jvr:-R490QF7F-9 .

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:-FT2R6V4S-W
  skos:prefLabel "Costello Syndrome"@en, "Syndrome de Costello"@fr ;
  a mesh:Descriptor, skos:Concept ;
  skos:broader jvr:-R490QF7F-9 .

jvr:-SDPG013V-D
  skos:prefLabel "psychology (Qualifier)"@en, "psychologie (Qualificatif)"@fr ;
  a mesh:Qualifier, skos:Concept .

jvr:-T6JZ48ZV-N
  skos:prefLabel "complications (Qualifier)"@en, "complications (Qualificatif)"@fr ;
  a mesh:Qualifier, skos:Concept .

jvr:-P1X8SCQ6-K
  skos:prefLabel "virologie (Qualificatif)"@fr, "virology (Qualifier)"@en ;
  a mesh:Qualifier, skos:Concept .

jvr:-K72Z90GZ-L
  skos:prefLabel "Hemoglobinopathies"@en, "Hémoglobinopathies"@fr ;
  a mesh:Descriptor, skos:Concept ;
  skos:broader jvr:-R490QF7F-9 .

jvr:-W6SQV79N-S
  skos:prefLabel "classification (Qualifier)"@en, "classification (Qualificatif)"@fr ;
  a mesh:Qualifier, skos:Concept .

jvr:-DSQ5R9HN-B
  skos:prefLabel "alpha 1-Antitrypsin Deficiency"@en, "Déficit en alpha-1-antitrypsine"@fr ;
  a mesh:Descriptor, skos:Concept ;
  skos:broader jvr:-R490QF7F-9 .

jvr:-PZ1M1CCG-X
  skos:prefLabel "Syndrome de Brugada"@fr, "Brugada Syndrome"@en ;
  a mesh:Descriptor, skos:Concept ;
  skos:broader jvr:-R490QF7F-9 .

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:-N4G0TQH1-N
  skos:prefLabel "Osteoarthropathy, Primary Hypertrophic"@en, "Pachydermopériostose"@fr ;
  a mesh:Descriptor, skos:Concept ;
  skos:broader jvr:-R490QF7F-9 .

jvr:-CB30NGKB-3
  skos:prefLabel "economics (Qualifier)"@en, "économie (Qualificatif)"@fr ;
  a mesh:Qualifier, skos:Concept .

jvr:-CJ9KSSDC-4
  skos:prefLabel "Pelger-Huet Anomaly"@en, "Anomalie de Pelger-Huët"@fr ;
  a mesh:Descriptor, skos:Concept ;
  skos:broader jvr:-R490QF7F-9 .

jvr:-LCCP1P97-K
  skos:prefLabel "Myasthenic Syndromes, Congenital"@en, "Syndromes myasthéniques congénitaux"@fr ;
  a mesh:Descriptor, skos:Concept ;
  skos:broader jvr:-R490QF7F-9 .

jvr:-TZKJJ296-C
  skos:prefLabel "Pain Insensitivity, Congenital"@en, "Analgésie congénitale"@fr ;
  a mesh:Descriptor, skos:Concept ;
  skos:broader jvr:-R490QF7F-9 .

jvr:-C32HW0L3-8
  skos:prefLabel "Skin Diseases, Genetic"@en, "Maladies génétiques de la peau"@fr ;
  a mesh:Descriptor, skos:Concept ;
  skos:broader jvr:-R490QF7F-9 .

jvr:-QJ1M83H5-6
  skos:prefLabel "Dystrophies musculaires"@fr, "Muscular Dystrophies"@en ;
  a mesh:Descriptor, skos:Concept ;
  skos:broader jvr:-R490QF7F-9 .

jvr:-L3H5T57R-W
  skos:prefLabel "Familial Multiple Lipomatosis"@en, "Lipomatose familiale"@fr ;
  a mesh:Descriptor, skos:Concept ;
  skos:broader jvr:-R490QF7F-9 .

jvr:-KL2XJHX5-7
  skos:prefLabel "Syndrome des ongles jaunes"@fr, "Yellow Nail Syndrome"@en ;
  a mesh:Descriptor, skos:Concept ;
  skos:broader jvr:-R490QF7F-9 .

jvr:-BT300B3G-Q
  skos:prefLabel "cerebrospinal fluid (Qualifier)"@en, "liquide cérébrospinal (Qualificatif)"@fr ;
  a mesh:Qualifier, skos:Concept .

jvr:-P9JNKZHS-3
  skos:prefLabel "Anemia, Hypoplastic, Congenital"@en, "Anémie hypoplasique congénitale"@fr ;
  a mesh:Descriptor, skos:Concept ;
  skos:broader jvr:-R490QF7F-9 .

jvr:-CSKTXWF5-F
  skos:prefLabel "epidemiology (Qualifier)"@en, "épidémiologie (Qualificatif)"@fr ;
  a mesh:Qualifier, skos:Concept .

jvr:-BL0Q8DS8-X
  skos:prefLabel "Maladies génétiques liées au chromosome X"@fr, "Genetic Diseases, X-Linked"@en ;
  a mesh:Descriptor, skos:Concept ;
  skos:broader jvr:-R490QF7F-9 .

jvr:-KZ0ZTRBL-8
  skos:prefLabel "Malformations et maladies congénitales, héréditaires et néonatales"@fr, "Congenital, Hereditary, and Neonatal Diseases and Abnormalities"@en ;
  a mesh:Descriptor, skos:Concept ;
  skos:narrower jvr:-R490QF7F-9 .

jvr:-PRVF5NTN-K
  skos:prefLabel "Déficience en GATA2"@fr, "GATA2 Deficiency"@en ;
  a mesh:Descriptor, skos:Concept ;
  skos:broader jvr:-R490QF7F-9 .

jvr:-B58GHXV9-W
  skos:prefLabel "Nanisme"@fr, "Dwarfism"@en ;
  a mesh:Descriptor, skos:Concept ;
  skos:broader jvr:-R490QF7F-9 .

jvr:-JVKFK2NX-2
  skos:prefLabel "nursing (Qualifier)"@en, "soins infirmiers (Qualificatif)"@fr ;
  a mesh:Qualifier, skos:Concept .

jvr:-XFTT95WR-K
  skos:prefLabel "Blood Coagulation Disorders, Inherited"@en, "Troubles héréditaires de la coagulation sanguine"@fr ;
  a mesh:Descriptor, skos:Concept ;
  skos:broader jvr:-R490QF7F-9 .

jvr:-W4X1LN61-R
  skos:prefLabel "diet therapy (Qualifier)"@en, "diétothérapie (Qualificatif)"@fr ;
  a mesh:Qualifier, skos:Concept .

jvr:-B8PBJMT7-G
  skos:prefLabel "Genetics, Medical"@en, "Génétique médicale"@fr ;
  a mesh:Descriptor, skos:Concept ;
  skos:related jvr:-R490QF7F-9 .

jvr:-XD1F4DRZ-Q
  skos:prefLabel "Syndrome lymphoprolifératif avec auto-immunité"@fr, "Autoimmune Lymphoproliferative Syndrome"@en ;
  a mesh:Descriptor, skos:Concept ;
  skos:broader jvr:-R490QF7F-9 .

jvr:-RC3PND0F-S
  skos:prefLabel "ethnology (Qualifier)"@en, "ethnologie (Qualificatif)"@fr ;
  a mesh:Qualifier, skos:Concept .

jvr:-VJ1M4GRP-0
  skos:prefLabel "Hyperthyroxinémie dysalbuminémique familiale"@fr, "Hyperthyroxinemia, Familial Dysalbuminemic"@en ;
  a mesh:Descriptor, skos:Concept ;
  skos:broader jvr:-R490QF7F-9 .

jvr:-XV06LPML-W
  skos:prefLabel "urine (Qualifier)"@en, "urine (Qualificatif)"@fr ;
  a mesh:Qualifier, skos:Concept .

jvr:-RTSHNPV7-9
  skos:prefLabel "Syndrome nail-patella"@fr, "Nail-Patella Syndrome"@en ;
  a mesh:Descriptor, skos:Concept ;
  skos:broader jvr:-R490QF7F-9 .

jvr:-CS1KZF68-9
  skos:prefLabel "Chromosome Disorders"@en, "Maladies chromosomiques"@fr ;
  a mesh:Descriptor, skos:Concept ;
  skos:broader jvr:-R490QF7F-9 .

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 .

