@prefix jvr: . @prefix skos: . @prefix mesh: . @prefix dc: . @prefix xsd: . @prefix owl: . 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:-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:-PL1B9DKD-D mesh:allowableQualifier jvr:-CSKTXWF5-F, jvr:-S0CS1X5R-5, jvr:-L6C0XPHT-4, jvr:-W6T67RP3-2, jvr:-KFM33PF8-L, jvr:-DH7H9MJ2-N, jvr:-SDXQ5280-F, jvr:-MDQBX560-1, jvr:-XVHTZRCG-7, jvr:-BT300B3G-Q, jvr:-GXVR9QN8-P, jvr:-WWJHCQRB-K, jvr:-VG20R78F-K, jvr:-KRXG97RR-5, jvr:-BQ3W1P91-F, jvr:-ZJBZVRWR-8, jvr:-RC3PND0F-S, jvr:-CB30NGKB-3, jvr:-W4X1LN61-R, jvr:-P1X8SCQ6-K, jvr:-NHL3D2X0-S, jvr:-J9Z93VFN-9, jvr:-XV06LPML-W, jvr:-SDPG013V-D, jvr:-B6C87218-T, jvr:-SBNWSM1T-R, jvr:-HPKB70N8-W, jvr:-W6SQV79N-S, jvr:-BBD0S71C-R, jvr:-Z9TSGBXH-4, jvr:-T1QJHLQ4-J, jvr:-JVKFK2NX-2, jvr:-T6JZ48ZV-N, jvr:-WQ00QWRG-J ; a mesh:Descriptor, skos:Concept ; skos:hiddenLabel "POR Deficiency"@en, "Syndrome d'Antley-Bixler autosomique dominant"@fr, "Combined Partial Deficiency of 17-Hydroxylase and 21-Hydroxylase"@en, "Multisynostotic Osteodysgenesis"@en, "Multisynostotic Osteodysgenesis With Long Bone Fractures"@en, "Antley-Bixler Syndrome Type 2"@en, "Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency"@en, "Adrenal Hyperplasia, Congenital, Due To Cytochrome P450 Oxidoreductase Deficiency"@en, "Trapezoidocephaly-Synostosis Syndrome"@en, "Osteodysgenesis, Multisynostotic, With Fractures"@en, "Ostéodysgénesie multisynostotique avec fractures"@fr, "Ostéodysgénesie multisynostotique avec fractures des os longs"@fr, "Antley-Bixler Syndrome, Autosomal Recessive"@en, "Antley-Bixler Syndrome"@en, "Cytochrome P450 Oxidoreductase Deficiency"@en, "Antley-Bixler Syndrome, Autosomal Dominant"@en, "Antley-Bixler Syndrome Type 1"@en, "Ostéodysgénesie multisynostotique"@fr, "Antley-Bixler Syndrome-Like Phenotype With Disordered Steroidogenesis"@en, "Antley-Bixler Syndrome with Disordered Steroidogenesis"@en, "Congenital Adrenal Hyperplasia Due To Apparent Combined P450c17 and P450c21 Deficiency"@en, "Syndrome d'Antley-Bixler"@fr ; skos:definition "An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANIOSYNOSTOSIS; midface hypoplasia; radiohumeral SYNOSTOSIS; CHOANAL ATRESIA; femoral bowing; neonatal fractures; and multiple joint CONTRACTURES and, occasionally, urogenital, gastrointestinal or cardiac defects. In utero exposure to FLUCONAZOLE, as well as mutations in at least two separate genes are associated with this condition - POR (encoding P450 (cytochrome) oxidoreductase (NADPH-FERRIHEMOPROTEIN REDUCTASE)) and FGFR2 (encoding FIBROBLAST GROWTH FACTOR RECEPTOR 2). Antley-Bixler Syndrome phenotype with normal genitalia and normal steroidogenesis, and associated with autosomal dominant mutations in FGFR2, the gene for FIBROBLAST GROWTH FACTOR RECEPTOR 2."@en ; dc:modified "2021-05-10"^^xsd:date ; skos:related jvr:-MLM5CJ4N-P, jvr:-LSQB2HFM-5 ; skos:broader jvr:-HZDSKRML-H, jvr:-T1MDGTK2-7 ; dc:created "2008-07-08"^^xsd:date ; owl:sameAs ; skos:inScheme jvr: ; skos:prefLabel "Phénotype du syndrome d'Antley-Bixler"@fr, "Antley-Bixler Syndrome Phenotype"@en ; dc:established "2009-01-01"^^xsd:date . 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:-T1MDGTK2-7 skos:prefLabel "Erreurs innées du métabolisme des stéroïdes"@fr, "Steroid Metabolism, Inborn Errors"@en ; a mesh:Descriptor, skos:Concept ; skos:narrower jvr:-PL1B9DKD-D . 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:-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:-HZDSKRML-H skos:prefLabel "Synostosis"@en, "Synostose"@fr ; a mesh:Descriptor, skos:Concept ; skos:narrower jvr:-PL1B9DKD-D . jvr:-MLM5CJ4N-P skos:prefLabel "NADPH-Ferrihemoprotein Reductase"@en, "NADPH-ferrihemoprotéine reductase"@fr ; a mesh:Descriptor, skos:Concept ; skos:related jvr:-PL1B9DKD-D . 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:-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:-LSQB2HFM-5 skos:prefLabel "Récepteur FGFR2"@fr, "Receptor, Fibroblast Growth Factor, Type 2"@en ; a mesh:Descriptor, skos:Concept ; skos:related jvr:-PL1B9DKD-D . jvr:-SBNWSM1T-R skos:prefLabel "history (Qualifier)"@en, "histoire (Qualificatif)"@fr ; a mesh:Qualifier, skos:Concept .