@prefix jvr: . @prefix mesh: . @prefix skos: . @prefix owl: . @prefix dc: . @prefix xsd: . jvr:-MLCKXF72-M mesh:allowableQualifier jvr:-NHL3D2X0-S, jvr:-CB30NGKB-3, jvr:-SBNWSM1T-R, jvr:-T6JZ48ZV-N, jvr:-BBD0S71C-R, jvr:-RC3PND0F-S, jvr:-WWJHCQRB-K, jvr:-BQ3W1P91-F, jvr:-W6SQV79N-S, jvr:-ZJBZVRWR-8, jvr:-P1X8SCQ6-K, jvr:-W6T67RP3-2, jvr:-JVKFK2NX-2, jvr:-HPKB70N8-W, jvr:-KFM33PF8-L, jvr:-W4X1LN61-R, jvr:-GXVR9QN8-P, jvr:-J9Z93VFN-9, jvr:-BT300B3G-Q, jvr:-CSKTXWF5-F, jvr:-WQ00QWRG-J, jvr:-DH7H9MJ2-N, jvr:-KRXG97RR-5, jvr:-L6C0XPHT-4, jvr:-Z9TSGBXH-4, jvr:-MDQBX560-1, jvr:-S0CS1X5R-5, jvr:-SDPG013V-D, jvr:-XV06LPML-W, jvr:-XVHTZRCG-7, jvr:-B6C87218-T, jvr:-VG20R78F-K, jvr:-T1QJHLQ4-J, jvr:-SDXQ5280-F ; skos:inScheme jvr: ; skos:hiddenLabel "Syndrome de Kallmann de type I"@fr, "Kallmann Syndrome 3"@en, "Autosomal Dominant Form of Kallmann Syndrome"@en, "Kallmann Syndrome 1"@en, "Kallmann Syndrome 2"@en, "Autosomal Recessive Form of Kallmann Syndrome"@en, "Kallmann Syndrome, Type 3, Recessive"@en, "Kallmann Syndrome, Type 1, X-linked"@en, "Syndrome de Kallmann de type II"@fr, "Syndrome de Kallmann de type 1"@fr, "Syndrome de Kallmann de type 2"@fr, "Hypogonadotropic Hypogonadism, Anosmia, and Midline Cranial Anomalies (Cleft Lip, Cleft Palate and Imperfect Fusion)"@en ; skos:altLabel "Dysplasie olfactogénitale de Kallmann-De Morsier"@fr, "Kallmann's Syndrome"@en, "Syndrome de De Morsier-Kallmann"@fr, "Dysplasie olfacto-génitale de Kallmann-De Morsier"@fr, "Dysplasia Olfactogenitalis of De Morsier"@en, "Dysplasie olfactogénitale de De Morsier"@fr, "Hypogonadotropic Hypogonadism and Anosmia"@en, "Anosmic Hypogonadism"@en, "Hypogonadotropic Hypogonadism-Anosmia Syndrome"@en, "Syndrome de Kallman-De Morsier"@fr, "Anosmic Idiopathic Hypogonadotropic Hypogonadism"@en, "Dysplasie olfacto-génitale de De Morsier"@fr ; owl:sameAs ; skos:broader jvr:-FCZKXMJ2-2, jvr:-R490QF7F-9, jvr:-VWBCB4KS-Z ; a mesh:Descriptor, skos:Concept ; dc:created "1992-05-20"^^xsd:date ; skos:related jvr:-PQGB8NZZ-Q, jvr:-BC1MNJH9-4 ; dc:modified "2021-06-30"^^xsd:date ; skos:prefLabel "Syndrome de Kallmann"@fr, "Kallmann Syndrome"@en ; dc:established "1993-01-01"^^xsd:date ; skos:definition "A genetically heterogeneous disorder caused by hypothalamic GNRH deficiency and OLFACTORY NERVE defects. It is characterized by congenital HYPOGONADOTROPIC HYPOGONADISM and ANOSMIA, possibly with additional midline defects. It can be transmitted as an X-linked (GENETIC DISEASES, X-LINKED), an autosomal dominant, or an autosomal recessive trait. Type 1 is the X-linked form with mutations of gene Kal1 which encodes anosmin-1 protein that plays a key role in the migration of GNRH-containing neurons and olfactory nerves to the HYPOTHALAMUS. Type 2 is an autosomal dominant form with loss-of-function mutations of gene Kal2 which encodes fibroblast growth-factor receptor-1 (FGFR1 PROTEIN)."@en . 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:-PQGB8NZZ-Q skos:prefLabel "Gonadotropin-Releasing Hormone"@en, "Hormone de libération des gonadotrophines"@fr ; a mesh:Descriptor, skos:Concept ; skos:related jvr:-MLCKXF72-M . 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:-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:-FCZKXMJ2-2 skos:prefLabel "Troubles du développement sexuel de sujets 46, XY"@fr, "Disorder of Sex Development, 46,XY"@en ; a mesh:Descriptor, skos:Concept ; skos:narrower jvr:-MLCKXF72-M . 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:-J9Z93VFN-9 skos:prefLabel "enzymology (Qualifier)"@en, "enzymologie (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept . jvr:-R490QF7F-9 skos:prefLabel "Genetic Diseases, Inborn"@en, "Maladies génétiques congénitales"@fr ; a mesh:Descriptor, skos:Concept ; skos:narrower jvr:-MLCKXF72-M . 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:-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:-VWBCB4KS-Z skos:prefLabel "Hypogonadisme"@fr, "Hypogonadism"@en ; a mesh:Descriptor, skos:Concept ; skos:narrower jvr:-MLCKXF72-M . 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:-BC1MNJH9-4 skos:prefLabel "Récepteur FGFR1"@fr, "Receptor, Fibroblast Growth Factor, Type 1"@en ; a mesh:Descriptor, skos:Concept ; skos:related jvr:-MLCKXF72-M . jvr:-SBNWSM1T-R skos:prefLabel "history (Qualifier)"@en, "histoire (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept .