########################################### ##### ##### ##### ##### # # # # # # # # # # ##### # # # # # # ## # # # # # # # # # # # # # # # # # # # # ##### # # ##### ##### ########################################### Release notes : Version: 1.2 Date : 6th May 2014 1. No. of classes modified: 270 2. No. of classes that have been added: 230 3. No. of classes that have been deleted: 7 1. Classes Modified: Class: http://www.orpha.net/ORDO/Orphanet_325529 Label: Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency + 'Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399994 + 'Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399584 Class: http://www.orpha.net/ORDO/Orphanet_182050 Label: MYH9-related disease + 'MYH9-related disease' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'MYH9-related disease' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'MYH9-related disease' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' Class: http://www.orpha.net/ORDO/Orphanet_97668 Label: Neonatal membranous glomerulopathy with maternal NEP deficiency - 'Neonatal membranous glomerulopathy with maternal NEP deficiency' SubClassOf 'etiological subtype' - 'Neonatal membranous glomerulopathy with maternal NEP deficiency' SubClassOf 'part_of' some 'Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization' + 'Neonatal membranous glomerulopathy with maternal NEP deficiency' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2054 Label: Osteochondritis of tarsal/metatarsal bone - 'Osteochondritis of tarsal/metatarsal bone' SubClassOf 'part_of' some 'Osteochondritis dissecans' + 'Osteochondritis of tarsal/metatarsal bone' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399319 Class: http://www.orpha.net/ORDO/Orphanet_2055 Label: Growth deficiency - brachydactyly - dysmorphism - 'Growth deficiency - brachydactyly - dysmorphism' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Growth deficiency - brachydactyly - dysmorphism' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Growth deficiency - brachydactyly - dysmorphism' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Growth deficiency - brachydactyly - dysmorphism' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Growth deficiency - brachydactyly - dysmorphism' SubClassOf 'malformation syndrome' - 'Growth deficiency - brachydactyly - dysmorphism' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Growth deficiency - brachydactyly - dysmorphism' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_35737 Label: Morning glory syndrome - 'Morning glory syndrome' SubClassOf 'malformation syndrome' + 'Morning glory syndrome' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_1428 Label: Familial chondromalacia patellae - 'Familial chondromalacia patellae' SubClassOf 'has_inheritance' some 'autosomal dominant' Class: http://www.orpha.net/ORDO/Orphanet_2070 Label: Eosinophilic gastroenteritis - 'Eosinophilic gastroenteritis' SubClassOf 'has_inheritance' some 'sporadic' Class: http://www.orpha.net/ORDO/Orphanet_75325 Label: Osteosclerosis - ichthyosis - premature ovarian failure + 'Osteosclerosis - ichthyosis - premature ovarian failure' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399853 + 'Osteosclerosis - ichthyosis - premature ovarian failure' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_400022 Class: http://www.orpha.net/ORDO/Orphanet_2138 Label: 46,XX ovotesticular disorder of sex development + '46,XX ovotesticular disorder of sex development' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399877 Class: http://www.orpha.net/ORDO/Orphanet_251262 Label: Familial osteochondritis dissecans - 'Familial osteochondritis dissecans' SubClassOf 'part_of' some 'Osteochondritis dissecans' + 'Familial osteochondritis dissecans' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399380 + 'Familial osteochondritis dissecans' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399158 Class: http://www.orpha.net/ORDO/Orphanet_95494 Label: Combined pituitary hormone deficiencies, genetic forms + 'Combined pituitary hormone deficiencies, genetic forms' SubClassOf 'part_of' some 'Hypogonadotropic hypogonadism associated with other endocrinopathies' Class: http://www.orpha.net/ORDO/Orphanet_123090 Label: lamin A/C - 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Emery-Dreifuss muscular dystrophy' + 'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Emery-Dreifuss muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_232228 Label: transmembrane and coiled-coil domains 1 - 'transmembrane and coiled-coil domains 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome' Class: http://www.orpha.net/ORDO/Orphanet_35807 Label: Ovarian germ cell malignant tumor - 'Ovarian germ cell malignant tumor' SubClassOf 'Rare ovarian cancer' + 'Ovarian germ cell malignant tumor' SubClassOf http://www.orpha.net/ORDO/Orphanet_398940 Class: http://www.orpha.net/ORDO/Orphanet_35808 Label: Ovarian malignant tumor of sex cord-stromal origin - 'Ovarian malignant tumor of sex cord-stromal origin' SubClassOf 'Rare ovarian cancer' + 'Ovarian malignant tumor of sex cord-stromal origin' SubClassOf http://www.orpha.net/ORDO/Orphanet_398940 Class: http://www.orpha.net/ORDO/Orphanet_1519 Label: Hypertelorism, Teebi type - 'Hypertelorism, Teebi type' SubClassOf 'part_of' some 'Syndromic frontonasal dysplasia' + 'Hypertelorism, Teebi type' SubClassOf 'part_of' some 'Frontonasal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_1521 Label: Craniofrontonasal dysplasia - Poland anomaly - 'Craniofrontonasal dysplasia - Poland anomaly' SubClassOf 'part_of' some 'Syndromic frontonasal dysplasia' + 'Craniofrontonasal dysplasia - Poland anomaly' SubClassOf 'part_of' some 'Frontonasal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_1520 Label: Craniofrontonasal dysplasia - 'Craniofrontonasal dysplasia' SubClassOf 'part_of' some 'Syndromic frontonasal dysplasia' + 'Craniofrontonasal dysplasia' SubClassOf 'part_of' some 'Frontonasal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_2241 Label: Megacystis-microcolon-intestinal hypoperistalsis syndrome + 'Megacystis-microcolon-intestinal hypoperistalsis syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' Class: http://www.orpha.net/ORDO/Orphanet_159219 Label: spectrin repeat containing, nuclear envelope 1 - 'spectrin repeat containing, nuclear envelope 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Emery-Dreifuss muscular dystrophy' + 'spectrin repeat containing, nuclear envelope 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Emery-Dreifuss muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_9 Label: Tetrasomy X + 'Tetrasomy X' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_400022 + 'Tetrasomy X' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399853 Class: http://www.orpha.net/ORDO/Orphanet_2232 Label: Primary hypergonadotropic hypogonadism - partial alopecia - 'Primary hypergonadotropic hypogonadism - partial alopecia' SubClassOf 'part_of' some 'Congenital hypogonadotropic hypogonadism' Class: http://www.orpha.net/ORDO/Orphanet_2235 Label: Hypogonadotropic hypogonadism - retinitis pigmentosa - 'Hypogonadotropic hypogonadism - retinitis pigmentosa' SubClassOf 'part_of' some 'Congenital hypogonadotropic hypogonadism' Class: http://www.orpha.net/ORDO/Orphanet_90695 Label: Panhypopituitarism + 'Panhypopituitarism' SubClassOf 'part_of' some 'Hypogonadotropic hypogonadism associated with other endocrinopathies' Class: http://www.orpha.net/ORDO/Orphanet_304764 Label: spermatogenesis and oogenesis specific basic helix-loop-helix 1 - 'spermatogenesis and oogenesis specific basic helix-loop-helix 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Male infertility with normal virilization due to meiosis defect' - 'spermatogenesis and oogenesis specific basic helix-loop-helix 1' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_180151 Label: Rare vaginal malformation + 'Rare vaginal malformation' SubClassOf 'Rare female infertility' Class: http://www.orpha.net/ORDO/Orphanet_3389 Label: Tuberculosis - 'Tuberculosis' SubClassOf 'part_of' some 'Rare male infertility' + 'Tuberculosis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399824 Class: http://www.orpha.net/ORDO/Orphanet_180145 Label: Uterine cervical aplasia and agenesis + 'Uterine cervical aplasia and agenesis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399882 Class: http://www.orpha.net/ORDO/Orphanet_180142 Label: Agenesis and aplasia of uterine body + 'Agenesis and aplasia of uterine body' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399882 Class: http://www.orpha.net/ORDO/Orphanet_180122 Label: Septate uterus + 'Septate uterus' SubClassOf http://www.orpha.net/ORDO/Orphanet_399882 Class: http://www.orpha.net/ORDO/Orphanet_3375 Label: Trisomy X + 'Trisomy X' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_400022 + 'Trisomy X' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399853 Class: http://www.orpha.net/ORDO/Orphanet_98909 Label: Desminopathy + 'Desminopathy' SubClassOf 'part_of' some 'Autosomal dominant distal myopathy' Class: http://www.orpha.net/ORDO/Orphanet_91 Label: Aromatase deficiency + 'Aromatase deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399831 + 'Aromatase deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_400011 + 'Aromatase deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399572 + 'Aromatase deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399983 Class: http://www.orpha.net/ORDO/Orphanet_98912 Label: ZASP-related myofibrillar myopathy + 'ZASP-related myofibrillar myopathy' SubClassOf 'part_of' some 'Autosomal dominant distal myopathy' Class: http://www.orpha.net/ORDO/Orphanet_98911 Label: Myotilin-related myofibrillar myopathy without spheroid body + 'Myotilin-related myofibrillar myopathy without spheroid body' SubClassOf 'part_of' some 'Autosomal dominant distal myopathy' Class: http://www.orpha.net/ORDO/Orphanet_1266 Label: Dermato-cardio-skeletal syndrome, Borrone type + 'Dermato-cardio-skeletal syndrome, Borrone type' SubClassOf 'has_inheritance' some 'autosomal recessive' Class: http://www.orpha.net/ORDO/Orphanet_352613 Label: Male infertility due to NANOS1 mutation - 'Male infertility due to NANOS1 mutation' SubClassOf 'part_of' some 'Rare male infertility' - 'Male infertility due to NANOS1 mutation' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Male infertility due to NANOS1 mutation' SubClassOf 'has_AgeOfOnset' some 'Adulthood' - 'Male infertility due to NANOS1 mutation' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Male infertility due to NANOS1 mutation' SubClassOf 'part_of' some 'Rare genetic urogenital disease' - 'Male infertility due to NANOS1 mutation' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_93604 Label: Antenatal Bartter syndrome + 'Antenatal Bartter syndrome' SubClassOf 'has_prevalence' some 'Unknown' Class: http://www.orpha.net/ORDO/Orphanet_93605 Label: Classic Bartter syndrome + 'Classic Bartter syndrome' SubClassOf 'has_prevalence' some 'Unknown' + 'Classic Bartter syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' Class: http://www.orpha.net/ORDO/Orphanet_2297 Label: Insulin-resistance syndrome type A + 'Insulin-resistance syndrome type A' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399853 + 'Insulin-resistance syndrome type A' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_400022 Class: http://www.orpha.net/ORDO/Orphanet_98977 Label: Juvenile glaucoma - 'Juvenile glaucoma' SubClassOf 'clinical subtype' + 'Juvenile glaucoma' SubClassOf 'disease' + 'Juvenile glaucoma' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Juvenile glaucoma' SubClassOf 'has_AgeOfOnset' some 'Variable' Class: http://www.orpha.net/ORDO/Orphanet_98976 Label: Congenital glaucoma - 'Congenital glaucoma' SubClassOf 'clinical subtype' + 'Congenital glaucoma' SubClassOf 'disease' + 'Congenital glaucoma' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Congenital glaucoma' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Congenital glaucoma' SubClassOf 'has_prevalence' some '1-9 / 100 000' Class: http://www.orpha.net/ORDO/Orphanet_217034 Label: Male infertility with normal virilization due to meiosis defect - 'Male infertility with normal virilization due to meiosis defect' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Male infertility with normal virilization due to meiosis defect' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' - 'Male infertility with normal virilization due to meiosis defect' SubClassOf 'disease' - 'Male infertility with normal virilization due to meiosis defect' SubClassOf 'part_of' some 'Rare genetic urogenital disease' - 'Male infertility with normal virilization due to meiosis defect' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Male infertility with normal virilization due to meiosis defect' SubClassOf 'part_of' some 'Rare male infertility' Class: http://www.orpha.net/ORDO/Orphanet_2380 Label: Legg-Calv�-Perthes disease - 'Legg-Calv�-Perthes disease' SubClassOf 'part_of' some 'Osteochondritis dissecans' + 'Legg-Calv�-Perthes disease' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399319 Class: http://www.orpha.net/ORDO/Orphanet_2377 Label: Laurence-Moon syndrome - 'Laurence-Moon syndrome' SubClassOf 'part_of' some 'Congenital hypogonadotropic hypogonadism' Class: http://www.orpha.net/ORDO/Orphanet_217454 Label: Rare hereditary thrombophilia + 'Rare hereditary thrombophilia' SubClassOf http://www.orpha.net/ORDO/Orphanet_399185 Class: http://www.orpha.net/ORDO/Orphanet_93567 Label: Pediatric systemic sclerosis - 'Pediatric systemic sclerosis' SubClassOf 'part_of' some 'Secondary interstitial lung disease specific to childhood associated with a connective tissue disease' - 'Pediatric systemic sclerosis' SubClassOf 'part_of' some 'Systemic sclerosis' - 'Pediatric systemic sclerosis' SubClassOf 'part_of' some 'Secondary glomerular disease' - 'Pediatric systemic sclerosis' SubClassOf 'clinical subtype' + 'Pediatric systemic sclerosis' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_356158 Label: nanos homolog 1 (Drosophila) - 'nanos homolog 1 (Drosophila)' SubClassOf 'gene' - 'nanos homolog 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Male infertility due to NANOS1 mutation' Class: http://www.orpha.net/ORDO/Orphanet_157823 Label: Kl�ver-Bucy syndrome - 'Kl�ver-Bucy syndrome' SubClassOf 'disease' + 'Kl�ver-Bucy syndrome' SubClassOf 'clinical syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93559 Label: C3 deposition glomerulonephritis without proliferation - 'C3 deposition glomerulonephritis without proliferation' SubClassOf 'part_of' some 'Secondary glomerular disease' - 'C3 deposition glomerulonephritis without proliferation' SubClassOf 'disease' + 'C3 deposition glomerulonephritis without proliferation' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_90790 Label: Congenital lipoid adrenal hyperplasia due to STAR deficency + 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399849 + 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_400018 Class: http://www.orpha.net/ORDO/Orphanet_90793 Label: Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency + 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399849 + 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_400018 + 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399994 + 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399584 Class: http://www.orpha.net/ORDO/Orphanet_90794 Label: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency - 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'part_of' some 'Rare male infertility' + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399584 + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_400018 + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399849 + 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399994 Class: http://www.orpha.net/ORDO/Orphanet_2326 Label: Kallmann syndrome - heart disease - 'Kallmann syndrome - heart disease' SubClassOf 'part_of' some 'Congenital hypogonadotropic hypogonadism' Class: http://www.orpha.net/ORDO/Orphanet_206484 Label: Ovarian gonadoblastoma - 'Ovarian gonadoblastoma' SubClassOf 'part_of' some 'Rare ovarian cancer' + 'Ovarian gonadoblastoma' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_398940 Class: http://www.orpha.net/ORDO/Orphanet_206473 Label: Borderline ovarian epithelial tumor - 'Borderline ovarian epithelial tumor' SubClassOf 'part_of' some 'Rare ovarian cancer' + 'Borderline ovarian epithelial tumor' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_398934 Class: http://www.orpha.net/ORDO/Orphanet_252018 Label: Teratoma of the central nervous system - 'Teratoma of the central nervous system' SubClassOf 'disease' + 'Teratoma of the central nervous system' SubClassOf 'clinical subtype' + 'Teratoma of the central nervous system' SubClassOf 'part_of' some 'Teratoma' Class: http://www.orpha.net/ORDO/Orphanet_252015 Label: Choriocarcinoma of the central nervous system - 'Choriocarcinoma of the central nervous system' SubClassOf 'disease' + 'Choriocarcinoma of the central nervous system' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_252021 Label: Mixed germ cell tumor of the central nervous system - 'Mixed germ cell tumor of the central nervous system' SubClassOf 'disease' + 'Mixed germ cell tumor of the central nervous system' SubClassOf 'clinical subtype' + 'Mixed germ cell tumor of the central nervous system' SubClassOf 'part_of' some 'Mixed germ cell tumor' Class: http://www.orpha.net/ORDO/Orphanet_3471 Label: Young syndrome - 'Young syndrome' SubClassOf 'part_of' some 'Rare male infertility' + 'Young syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_400003 + 'Young syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399824 Class: http://www.orpha.net/ORDO/Orphanet_304648 Label: phosphatidylinositol glycan anchor biosynthesis, class O - 'phosphatidylinositol glycan anchor biosynthesis, class O' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperphosphatasia-intellectual disability syndrome' + 'phosphatidylinositol glycan anchor biosynthesis, class O' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperphosphatasia-intellectual disability syndrome' Class: http://www.orpha.net/ORDO/Orphanet_252006 Label: Yolk sac tumor of the central nervous system - 'Yolk sac tumor of the central nervous system' SubClassOf 'disease' + 'Yolk sac tumor of the central nervous system' SubClassOf 'clinical subtype' + 'Yolk sac tumor of the central nervous system' SubClassOf 'part_of' some 'Yolk sac tumor' Class: http://www.orpha.net/ORDO/Orphanet_3453 Label: Autoimmune polyendocrinopathy type 1 + 'Autoimmune polyendocrinopathy type 1' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399853 Class: http://www.orpha.net/ORDO/Orphanet_180234 Label: Mixed germ cell tumor - 'Mixed germ cell tumor' SubClassOf 'part_of' some 'Extragonadal germ cell tumor' + 'Mixed germ cell tumor' SubClassOf 'part_of' some 'Extragonadal non-dysgerminomatous germ cell tumor' Class: http://www.orpha.net/ORDO/Orphanet_1394 Label: Cerebro-facio-thoracic dysplasia + 'Cerebro-facio-thoracic dysplasia' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_98842 Label: Lymphomatoid papulosis - 'Lymphomatoid papulosis' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Lymphomatoid papulosis' SubClassOf 'has_prevalence' some 'Unknown' + 'Lymphomatoid papulosis' SubClassOf 'has_AgeOfOnset' some 'Variable' Class: http://www.orpha.net/ORDO/Orphanet_325681 Label: spastic paraplegia 45 (autosomal recessive) - 'spastic paraplegia 45 (autosomal recessive)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 45' - 'spastic paraplegia 45 (autosomal recessive)' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_159517 Label: transmembrane protein 43 - 'transmembrane protein 43' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Emery-Dreifuss muscular dystrophy' + 'transmembrane protein 43' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Emery-Dreifuss muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_98897 Label: Oculopharyngodistal myopathy + 'Oculopharyngodistal myopathy' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Oculopharyngodistal myopathy' SubClassOf 'part_of' some 'Distal myopathy' Class: http://www.orpha.net/ORDO/Orphanet_98864 Label: Common hereditary elliptocytosis - 'Common hereditary elliptocytosis' SubClassOf 'part_of' some 'Hereditary elliptocytosis' - 'Common hereditary elliptocytosis' SubClassOf 'disease' + 'Common hereditary elliptocytosis' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_98865 Label: Homozygous hereditary elliptocytosis - 'Homozygous hereditary elliptocytosis' SubClassOf 'disease' - 'Homozygous hereditary elliptocytosis' SubClassOf 'part_of' some 'Hereditary elliptocytosis' + 'Homozygous hereditary elliptocytosis' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1332 Label: Medullary thyroid carcinoma - 'Medullary thyroid carcinoma' SubClassOf 'has_inheritance' some 'autosomal dominant' Class: http://www.orpha.net/ORDO/Orphanet_98868 Label: Southeast Asian ovalocytosis - 'Southeast Asian ovalocytosis' SubClassOf 'part_of' some 'Hereditary elliptocytosis' + 'Southeast Asian ovalocytosis' SubClassOf 'part_of' some 'Stomatocytosis' Class: http://www.orpha.net/ORDO/Orphanet_98867 Label: Hereditary pyropoikilocytosis - 'Hereditary pyropoikilocytosis' SubClassOf 'disease' - 'Hereditary pyropoikilocytosis' SubClassOf 'part_of' some 'Hereditary elliptocytosis' + 'Hereditary pyropoikilocytosis' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_98866 Label: Spherocytic elliptocytosis - 'Spherocytic elliptocytosis' SubClassOf 'disease' - 'Spherocytic elliptocytosis' SubClassOf 'part_of' some 'Hereditary elliptocytosis' + 'Spherocytic elliptocytosis' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_159456 Label: mediator complex subunit 13-like + 'mediator complex subunit 13-like' SubClassOf 'Major susceptibility factor in' some 'Congenitally uncorrected transposition of the great arteries' Class: http://www.orpha.net/ORDO/Orphanet_2495 Label: Meningioma + 'Meningioma' SubClassOf 'has_AgeOfOnset' some 'Variable' Class: http://www.orpha.net/ORDO/Orphanet_93668 Label: Adult chronic recurrent multifocal osteomyelitis - 'Adult chronic recurrent multifocal osteomyelitis' SubClassOf 'part_of' some 'Chronic recurrent multifocal osteomyelitis' - 'Adult chronic recurrent multifocal osteomyelitis' SubClassOf 'clinical subtype' + 'Adult chronic recurrent multifocal osteomyelitis' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_86 Label: Familial abdominal aortic aneurysm - 'Familial abdominal aortic aneurysm' SubClassOf 'part_of' some 'Rare vascular disease' Class: http://www.orpha.net/ORDO/Orphanet_225332 Label: RAB39B, member RAS oncogene family - 'RAB39B, member RAS oncogene family' SubClassOf 'Role in the phenotype of' some 'Distal Xq28 microduplication syndrome' Class: http://www.orpha.net/ORDO/Orphanet_49566 Label: Purpura fulminans + 'Purpura fulminans' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' Class: http://www.orpha.net/ORDO/Orphanet_48 Label: Congenital bilateral absence of vas deferens - 'Congenital bilateral absence of vas deferens' SubClassOf 'part_of' some 'Rare male infertility' - 'Congenital bilateral absence of vas deferens' SubClassOf 'part_of' some 'Genetic infertility' + 'Congenital bilateral absence of vas deferens' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_98343 + 'Congenital bilateral absence of vas deferens' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399998 Class: http://www.orpha.net/ORDO/Orphanet_43 Label: X-linked adrenoleukodystrophy - 'X-linked adrenoleukodystrophy' SubClassOf 'part_of' some 'Rare male infertility' + 'X-linked adrenoleukodystrophy' SubClassOf 'part_of' some 'Non-hypogonadotropic hypogonadism' Class: http://www.orpha.net/ORDO/Orphanet_306542 Label: Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome - 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf 'part_of' some 'Syndromic frontonasal dysplasia' + 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf 'part_of' some 'Frontonasal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_325124 Label: Testicular agenesis + 'Testicular agenesis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_98313 Class: http://www.orpha.net/ORDO/Orphanet_181390 Label: Hypogonadotropic hypogonadism associated with other endocrinopathies + 'Hypogonadotropic hypogonadism associated with other endocrinopathies' SubClassOf http://www.orpha.net/ORDO/Orphanet_399839 Class: http://www.orpha.net/ORDO/Orphanet_331952 Label: post-GPI attachment to proteins 2 - 'post-GPI attachment to proteins 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperphosphatasia-intellectual disability syndrome' + 'post-GPI attachment to proteins 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperphosphatasia-intellectual disability syndrome' Class: http://www.orpha.net/ORDO/Orphanet_123628 Label: myosin, heavy chain 9, non-muscle + 'myosin, heavy chain 9, non-muscle' SubClassOf 'Disease-causing germline mutation(s) in' some 'MYH9-related disease' Class: http://www.orpha.net/ORDO/Orphanet_100039 Label: Familial pseudohyperkalemia type 1 - 'Familial pseudohyperkalemia type 1' SubClassOf 'clinical subtype' - 'Familial pseudohyperkalemia type 1' SubClassOf 'part_of' some 'Familial pseudohyperkalemia' + 'Familial pseudohyperkalemia type 1' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_228407 Label: Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome - 'Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome' SubClassOf 'malformation syndrome' - 'Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_181441 Label: Non-hypogonadotropic hypogonadism + 'Non-hypogonadotropic hypogonadism' SubClassOf http://www.orpha.net/ORDO/Orphanet_399685 Class: http://www.orpha.net/ORDO/Orphanet_286552 Label: acylglycerol kinase + 'acylglycerol kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Non-syndromic congenital cataract' Class: http://www.orpha.net/ORDO/Orphanet_93337 Label: Polydactyly of an index finger + 'Polydactyly of an index finger' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Polydactyly of an index finger' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' Class: http://www.orpha.net/ORDO/Orphanet_93338 Label: Polysyndactyly + 'Polysyndactyly' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' Class: http://www.orpha.net/ORDO/Orphanet_93339 Label: Polydactyly of a biphalangeal thumb + 'Polydactyly of a biphalangeal thumb' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' Class: http://www.orpha.net/ORDO/Orphanet_251503 Label: phosphatidylinositol glycan anchor biosynthesis, class V - 'phosphatidylinositol glycan anchor biosynthesis, class V' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperphosphatasia-intellectual disability syndrome' + 'phosphatidylinositol glycan anchor biosynthesis, class V' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperphosphatasia-intellectual disability syndrome' Class: http://www.orpha.net/ORDO/Orphanet_156005 Label: Primary glaucoma - 'Primary glaucoma' SubClassOf 'malformation syndrome' - 'Primary glaucoma' SubClassOf 'part_of' some 'Hereditary glaucoma' + 'Primary glaucoma' SubClassOf 'Hereditary glaucoma' + 'Primary glaucoma' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_251510 Label: 46,XY partial gonadal dysgenesis + '46,XY partial gonadal dysgenesis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399877 + '46,XY partial gonadal dysgenesis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_98313 Class: http://www.orpha.net/ORDO/Orphanet_100040 Label: Familial pseudohyperkalemia type 2 - 'Familial pseudohyperkalemia type 2' SubClassOf 'part_of' some 'Familial pseudohyperkalemia' - 'Familial pseudohyperkalemia type 2' SubClassOf 'clinical subtype' + 'Familial pseudohyperkalemia type 2' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_100041 Label: Familial pseudohyperkalemia, Cardiff type - 'Familial pseudohyperkalemia, Cardiff type' SubClassOf 'part_of' some 'Familial pseudohyperkalemia' - 'Familial pseudohyperkalemia, Cardiff type' SubClassOf 'clinical subtype' + 'Familial pseudohyperkalemia, Cardiff type' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_228390 Label: Frontonasal dysplasia with alopecia and genital anomaly - 'Frontonasal dysplasia with alopecia and genital anomaly' SubClassOf 'part_of' some 'Syndromic frontonasal dysplasia' + 'Frontonasal dysplasia with alopecia and genital anomaly' SubClassOf 'part_of' some 'Frontonasal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_77298 Label: Anophthalmia/microphthalmia - esophageal atresia + 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf 'part_of' some 'Disease associated with non-acquired combined pituitary hormone deficiency' Class: http://www.orpha.net/ORDO/Orphanet_1173 Label: Cerebellar ataxia - hypogonadism - 'Cerebellar ataxia - hypogonadism' SubClassOf 'part_of' some 'Rare male infertility' - 'Cerebellar ataxia - hypogonadism' SubClassOf 'part_of' some 'Congenital hypogonadotropic hypogonadism' Class: http://www.orpha.net/ORDO/Orphanet_86820 Label: Familial avascular necrosis of femoral head - 'Familial avascular necrosis of femoral head' SubClassOf 'part_of' some 'Osteochondritis dissecans' + 'Familial avascular necrosis of femoral head' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399388 + 'Familial avascular necrosis of femoral head' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399302 Class: http://www.orpha.net/ORDO/Orphanet_216729 Label: Congenitally uncorrected transposition of the great arteries with cardiac malformation - 'Congenitally uncorrected transposition of the great arteries with cardiac malformation' SubClassOf 'malformation syndrome' + 'Congenitally uncorrected transposition of the great arteries with cardiac malformation' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_216718 Label: Isolated congenitally uncorrected transposition of the great arteries - 'Isolated congenitally uncorrected transposition of the great arteries' SubClassOf 'morphological anomaly' + 'Isolated congenitally uncorrected transposition of the great arteries' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_2619 Label: Brachydactylous dwarfism, Mseleni type - 'Brachydactylous dwarfism, Mseleni type' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' + 'Brachydactylous dwarfism, Mseleni type' SubClassOf 'has_AgeOfOnset' some 'Childhood' Class: http://www.orpha.net/ORDO/Orphanet_264200 Label: 14q22q23 microdeletion syndrome + '14q22q23 microdeletion syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + '14q22q23 microdeletion syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2637 Label: Microcephalic osteodysplastic primordial dwarfism type 2 + 'Microcephalic osteodysplastic primordial dwarfism type 2' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' Class: http://www.orpha.net/ORDO/Orphanet_213512 Label: Malignant mixed epithelial mesenchymal tumor of the ovary - 'Malignant mixed epithelial mesenchymal tumor of the ovary' SubClassOf 'part_of' some 'Rare ovarian cancer' + 'Malignant mixed epithelial mesenchymal tumor of the ovary' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_398934 Class: http://www.orpha.net/ORDO/Orphanet_213517 Label: Familial ovarian cancer - 'Familial ovarian cancer' SubClassOf 'Rare ovarian cancer' + 'Familial ovarian cancer' SubClassOf http://www.orpha.net/ORDO/Orphanet_398940 Class: http://www.orpha.net/ORDO/Orphanet_123520 Label: mitochondrially encoded cytochrome c oxidase III - 'mitochondrially encoded cytochrome c oxidase III' SubClassOf 'Disease-causing germline mutation(s) in' some 'MELAS syndrome' + 'mitochondrially encoded cytochrome c oxidase III' SubClassOf 'Candidate gene tested in' some 'MELAS syndrome' Class: http://www.orpha.net/ORDO/Orphanet_213504 Label: Ovarian adenocarcinoma - 'Ovarian adenocarcinoma' SubClassOf 'part_of' some 'Rare ovarian cancer' + 'Ovarian adenocarcinoma' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_398934 Class: http://www.orpha.net/ORDO/Orphanet_251891 Label: Atypical teratoid/rhabdoid tumor - 'Atypical teratoid/rhabdoid tumor' SubClassOf 'has_inheritance' some 'sporadic' - 'Atypical teratoid/rhabdoid tumor' SubClassOf 'part_of' some 'Embryonal tumor of the neuroepithelial tissue' - 'Atypical teratoid/rhabdoid tumor' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Atypical teratoid/rhabdoid tumor' SubClassOf 'disease' + 'Atypical teratoid/rhabdoid tumor' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_324982 Label: Adult-onset SAPHO syndrome - 'Adult-onset SAPHO syndrome' SubClassOf 'clinical subtype' - 'Adult-onset SAPHO syndrome' SubClassOf 'part_of' some 'SAPHO syndrome' + 'Adult-onset SAPHO syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_324989 Label: Juvenile-onset SAPHO syndrome - 'Juvenile-onset SAPHO syndrome' SubClassOf 'part_of' some 'SAPHO syndrome' - 'Juvenile-onset SAPHO syndrome' SubClassOf 'clinical subtype' + 'Juvenile-onset SAPHO syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2778 Label: Juvenile chronic recurrent multifocal osteomyelitis - 'Juvenile chronic recurrent multifocal osteomyelitis' SubClassOf 'part_of' some 'Chronic recurrent multifocal osteomyelitis' - 'Juvenile chronic recurrent multifocal osteomyelitis' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Juvenile chronic recurrent multifocal osteomyelitis' SubClassOf 'has_prevalence' some 'Unknown' - 'Juvenile chronic recurrent multifocal osteomyelitis' SubClassOf 'clinical subtype' + 'Juvenile chronic recurrent multifocal osteomyelitis' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2754 Label: Joubert syndrome with orofaciodigital defect - 'Joubert syndrome with orofaciodigital defect' SubClassOf 'malformation syndrome' + 'Joubert syndrome with orofaciodigital defect' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2764 Label: Osteochondritis dissecans - 'Osteochondritis dissecans' SubClassOf 'group of disorders' - 'Osteochondritis dissecans' SubClassOf 'Rare genetic bone disease' - 'Osteochondritis dissecans' SubClassOf 'Rare bone disease' + 'Osteochondritis dissecans' SubClassOf 'has_prevalence' some '1-5 / 10 000' + 'Osteochondritis dissecans' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399158 + 'Osteochondritis dissecans' SubClassOf 'disease' + 'Osteochondritis dissecans' SubClassOf 'has_AgeOfOnset' some 'Variable' Class: http://www.orpha.net/ORDO/Orphanet_2737 Label: Onchocerciasis - 'Onchocerciasis' SubClassOf 'has_prevalence' some 'Unknown' + 'Onchocerciasis' SubClassOf 'has_prevalence' some '1 / 1 000 000' Class: http://www.orpha.net/ORDO/Orphanet_119359 Label: cripto, FRL-1, cryptic family 1 + 'cripto, FRL-1, cryptic family 1' SubClassOf 'Major susceptibility factor in' some 'Congenitally uncorrected transposition of the great arteries' Class: http://www.orpha.net/ORDO/Orphanet_33364 Label: Trichothiodystrophy + 'Trichothiodystrophy' SubClassOf http://www.orpha.net/ORDO/Orphanet_399771 Class: http://www.orpha.net/ORDO/Orphanet_209271 Label: spectrin repeat containing, nuclear envelope 2 - 'spectrin repeat containing, nuclear envelope 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Emery-Dreifuss muscular dystrophy' + 'spectrin repeat containing, nuclear envelope 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Emery-Dreifuss muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_77259 Label: Gaucher disease type 1 + 'Gaucher disease type 1' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399185 Class: http://www.orpha.net/ORDO/Orphanet_77261 Label: Gaucher disease type 3 + 'Gaucher disease type 3' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399185 Class: http://www.orpha.net/ORDO/Orphanet_119382 Label: cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) - 'cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)' SubClassOf 'Candidate gene tested in' some 'Male infertility with normal virilization due to meiosis defect' Class: http://www.orpha.net/ORDO/Orphanet_268162 Label: Intermediate maple syrup urine disease - 'Intermediate maple syrup urine disease' SubClassOf 'has_prevalence' some 'Unknown' + 'Intermediate maple syrup urine disease' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' Class: http://www.orpha.net/ORDO/Orphanet_96264 Label: 49,XXXXY syndrome - '49,XXXXY syndrome' SubClassOf 'part_of' some 'Rare male infertility' + '49,XXXXY syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_98313 Class: http://www.orpha.net/ORDO/Orphanet_96263 Label: 48,XXXY syndrome - '48,XXXY syndrome' SubClassOf 'part_of' some 'Rare male infertility' + '48,XXXY syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_98313 Class: http://www.orpha.net/ORDO/Orphanet_268145 Label: Classic maple syrup urine disease - 'Classic maple syrup urine disease' SubClassOf 'has_prevalence' some 'Unknown' + 'Classic maple syrup urine disease' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' Class: http://www.orpha.net/ORDO/Orphanet_363972 Label: Noonan syndrome-like disorder with juvenile myelomonocytic leukemia - 'Noonan syndrome-like disorder with juvenile myelomonocytic leukemia' SubClassOf 'disease' + 'Noonan syndrome-like disorder with juvenile myelomonocytic leukemia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_52901 Label: Isolated follicle stimulating hormone deficiency - 'Isolated follicle stimulating hormone deficiency' SubClassOf 'part_of' some 'Rare male infertility' + 'Isolated follicle stimulating hormone deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_400011 + 'Isolated follicle stimulating hormone deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399831 + 'Isolated follicle stimulating hormone deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399572 + 'Isolated follicle stimulating hormone deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399983 Class: http://www.orpha.net/ORDO/Orphanet_99042 Label: Congenitally uncorrected transposition of the great arteries with coarctation - 'Congenitally uncorrected transposition of the great arteries with coarctation' SubClassOf 'malformation syndrome' + 'Congenitally uncorrected transposition of the great arteries with coarctation' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_2856 Label: Persistent M�llerian duct syndrome - 'Persistent M�llerian duct syndrome' SubClassOf 'part_of' some 'Rare male infertility' + 'Persistent M�llerian duct syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_400003 + 'Persistent M�llerian duct syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399824 Class: http://www.orpha.net/ORDO/Orphanet_2855 Label: Perrault syndrome + 'Perrault syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399877 Class: http://www.orpha.net/ORDO/Orphanet_138 Label: CHARGE syndrome - 'CHARGE syndrome' SubClassOf 'part_of' some 'Congenital hypogonadotropic hypogonadism' + 'CHARGE syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399846 Class: http://www.orpha.net/ORDO/Orphanet_126 Label: Blepharophimosis - epicanthus inversus - ptosis + 'Blepharophimosis - epicanthus inversus - ptosis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399853 + 'Blepharophimosis - epicanthus inversus - ptosis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_400022 Class: http://www.orpha.net/ORDO/Orphanet_395056 Label: post-GPI attachment to proteins 3 - 'post-GPI attachment to proteins 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperphosphatasia-intellectual disability syndrome' + 'post-GPI attachment to proteins 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperphosphatasia-intellectual disability syndrome' Class: http://www.orpha.net/ORDO/Orphanet_110 Label: Bardet-Biedl syndrome - 'Bardet-Biedl syndrome' SubClassOf 'part_of' some 'Congenital hypogonadotropic hypogonadism' + 'Bardet-Biedl syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399846 Class: http://www.orpha.net/ORDO/Orphanet_174 Label: Metaphyseal chondrodysplasia, Schmid type - 'Metaphyseal chondrodysplasia, Schmid type' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' + 'Metaphyseal chondrodysplasia, Schmid type' SubClassOf 'has_AgeOfOnset' some 'Childhood' Class: http://www.orpha.net/ORDO/Orphanet_166892 Label: growth differentiation factor 1 + 'growth differentiation factor 1' SubClassOf 'Major susceptibility factor in' some 'Congenitally uncorrected transposition of the great arteries' Class: http://www.orpha.net/ORDO/Orphanet_96201 Label: X small rings + 'X small rings' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_400022 + 'X small rings' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399853 Class: http://www.orpha.net/ORDO/Orphanet_144 Label: Hereditary nonpolyposis colon cancer - 'Hereditary nonpolyposis colon cancer' SubClassOf 'Familial ovarian cancer' Class: http://www.orpha.net/ORDO/Orphanet_286 Label: Ehlers-Danlos syndrome, vascular type - 'Ehlers-Danlos syndrome, vascular type' SubClassOf 'part_of' some 'Rare genetic vascular disease' + 'Ehlers-Danlos syndrome, vascular type' SubClassOf 'part_of' some 'Rare disease with thoracic aortic aneurysm and aortic dissection' Class: http://www.orpha.net/ORDO/Orphanet_308410 Label: Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency + 'Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' Class: http://www.orpha.net/ORDO/Orphanet_174590 Label: Congenital hypogonadotropic hypogonadism - 'Congenital hypogonadotropic hypogonadism' SubClassOf 'Rare male infertility' + 'Congenital hypogonadotropic hypogonadism' SubClassOf http://www.orpha.net/ORDO/Orphanet_399983 + 'Congenital hypogonadotropic hypogonadism' SubClassOf http://www.orpha.net/ORDO/Orphanet_399572 Class: http://www.orpha.net/ORDO/Orphanet_273 Label: Steinert myotonic dystrophy + 'Steinert myotonic dystrophy' SubClassOf 'part_of' some 'Non-hypogonadotropic hypogonadism' Class: http://www.orpha.net/ORDO/Orphanet_244 Label: Primary ciliary dyskinesia - 'Primary ciliary dyskinesia' SubClassOf 'part_of' some 'Rare male infertility' + 'Primary ciliary dyskinesia' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399813 Class: http://www.orpha.net/ORDO/Orphanet_243 Label: 46,XX gonadal dysgenesis + '46,XX gonadal dysgenesis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399877 Class: http://www.orpha.net/ORDO/Orphanet_220903 Label: synaptonemal complex protein 3 - 'synaptonemal complex protein 3' SubClassOf 'gene' - 'synaptonemal complex protein 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Male infertility with normal virilization due to meiosis defect' Class: http://www.orpha.net/ORDO/Orphanet_89938 Label: Infantile Bartter syndrome with deafness + 'Infantile Bartter syndrome with deafness' SubClassOf 'has_prevalence' some 'Unknown' + 'Infantile Bartter syndrome with deafness' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Infantile Bartter syndrome with deafness' SubClassOf 'has_inheritance' some 'autosomal recessive' Class: http://www.orpha.net/ORDO/Orphanet_229 Label: Familial aortic dissection - 'Familial aortic dissection' SubClassOf 'part_of' some 'Rare vascular disease' Class: http://www.orpha.net/ORDO/Orphanet_232 Label: Sickle cell anemia + 'Sickle cell anemia' SubClassOf 'part_of' some 'Syndrome with hypogonadotropic hypogonadism' + 'Sickle cell anemia' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399185 Class: http://www.orpha.net/ORDO/Orphanet_2965 Label: Prolactinoma + 'Prolactinoma' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399572 + 'Prolactinoma' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399831 Class: http://www.orpha.net/ORDO/Orphanet_82004 Label: Ehlers-Danlos syndrome with periventricular heterotopia + 'Ehlers-Danlos syndrome with periventricular heterotopia' SubClassOf 'part_of' some 'Rare disease with thoracic aortic aneurysm and aortic dissection' Class: http://www.orpha.net/ORDO/Orphanet_51608 Label: Generalized arterial calcification of infancy - 'Generalized arterial calcification of infancy' SubClassOf 'part_of' some 'Rare vascular disease' Class: http://www.orpha.net/ORDO/Orphanet_370034 Label: Familial syringomyelia - 'Familial syringomyelia' SubClassOf 'part_of' some 'Syringomyelia' + 'Familial syringomyelia' SubClassOf 'part_of' some 'Primary syringomyelia' Class: http://www.orpha.net/ORDO/Orphanet_2929 Label: Juvenile polyposis syndrome - 'Juvenile polyposis syndrome' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' + 'Juvenile polyposis syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' Class: http://www.orpha.net/ORDO/Orphanet_121563 Label: erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) - 'erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Homozygous hereditary elliptocytosis' - 'erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)' SubClassOf 'gene' - 'erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Common hereditary elliptocytosis' Class: http://www.orpha.net/ORDO/Orphanet_330 Label: Congenital factor XII deficiency + 'Congenital factor XII deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Congenital factor XII deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood' Class: http://www.orpha.net/ORDO/Orphanet_97336 Label: Panner disease - 'Panner disease' SubClassOf 'part_of' some 'Osteochondritis dissecans' + 'Panner disease' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399319 Class: http://www.orpha.net/ORDO/Orphanet_97335 Label: Osgood-Schlatter disease - 'Osgood-Schlatter disease' SubClassOf 'part_of' some 'Osteochondritis dissecans' + 'Osgood-Schlatter disease' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399319 Class: http://www.orpha.net/ORDO/Orphanet_97332 Label: Kienbock disease - 'Kienbock disease' SubClassOf 'part_of' some 'Osteochondritis dissecans' + 'Kienbock disease' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399319 Class: http://www.orpha.net/ORDO/Orphanet_97337 Label: Sinding-Larsen-Johansson disease - 'Sinding-Larsen-Johansson disease' SubClassOf 'part_of' some 'Osteochondritis dissecans' + 'Sinding-Larsen-Johansson disease' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399319 Class: http://www.orpha.net/ORDO/Orphanet_275761 Label: Lysosomal acid lipase deficiency - 'Lysosomal acid lipase deficiency' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Lysosomal acid lipase deficiency' SubClassOf 'has_prevalence' some 'Unknown' Class: http://www.orpha.net/ORDO/Orphanet_251995 Label: Primary germ cell tumor of the central nervous system + 'Primary germ cell tumor of the central nervous system' SubClassOf 'Extragonadal germ cell tumor' Class: http://www.orpha.net/ORDO/Orphanet_94064 Label: Deafness-infertility syndrome - 'Deafness-infertility syndrome' SubClassOf 'part_of' some 'Rare male infertility' + 'Deafness-infertility syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399813 Class: http://www.orpha.net/ORDO/Orphanet_376942 Label: xylosyltransferase I + 'xylosyltransferase I' SubClassOf 'Disease-causing germline mutation(s) in' some 'Desbuquois syndrome' Class: http://www.orpha.net/ORDO/Orphanet_94084 Label: Pachygyria - epilepsy - intellectual disability - dysmorphism - 'Pachygyria - epilepsy - intellectual disability - dysmorphism' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as major feature' - 'Pachygyria - epilepsy - intellectual disability - dysmorphism' SubClassOf 'malformation syndrome' - 'Pachygyria - epilepsy - intellectual disability - dysmorphism' SubClassOf 'part_of' some 'Other syndrome with lissencephaly as a major feature' - 'Pachygyria - epilepsy - intellectual disability - dysmorphism' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Pachygyria - epilepsy - intellectual disability - dysmorphism' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Pachygyria - epilepsy - intellectual disability - dysmorphism' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_79133 Label: Focal facial dermal dysplasia - 'Focal facial dermal dysplasia' SubClassOf 'malformation syndrome' + 'Focal facial dermal dysplasia' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_393 Label: 46,XX testicular disorder of sex development - '46,XX testicular disorder of sex development' SubClassOf 'part_of' some 'Rare male infertility' + '46,XX testicular disorder of sex development' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_98313 Class: http://www.orpha.net/ORDO/Orphanet_35066 Label: Idiopathic cutaneous and mucosal candidiasis - 'Idiopathic cutaneous and mucosal candidiasis' SubClassOf 'disease' - 'Idiopathic cutaneous and mucosal candidiasis' SubClassOf 'part_of' some 'Other acquired skin disease' - 'Idiopathic cutaneous and mucosal candidiasis' SubClassOf 'part_of' some 'Rare mycosis' + 'Idiopathic cutaneous and mucosal candidiasis' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_166766 Label: mitochondrially encoded tRNA histidine - 'mitochondrially encoded tRNA histidine' SubClassOf 'Disease-causing germline mutation(s) in' some 'MELAS syndrome' + 'mitochondrially encoded tRNA histidine' SubClassOf 'Candidate gene tested in' some 'MELAS syndrome' Class: http://www.orpha.net/ORDO/Orphanet_391479 Label: Syndromic frontonasal dysplasia - 'Syndromic frontonasal dysplasia' SubClassOf 'group of disorders' - 'Syndromic frontonasal dysplasia' SubClassOf 'Frontonasal dysplasia' + 'Syndromic frontonasal dysplasia' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_391487 Label: Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome + 'Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' Class: http://www.orpha.net/ORDO/Orphanet_276234 Label: CATSPER1-related non syndromic male infertility - 'CATSPER1-related non syndromic male infertility' SubClassOf 'part_of' some 'Genetic infertility' + 'CATSPER1-related non syndromic male infertility' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399813 Class: http://www.orpha.net/ORDO/Orphanet_119846 Label: spectrin, alpha, erythrocytic 1 (elliptocytosis 2) - 'spectrin, alpha, erythrocytic 1 (elliptocytosis 2)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary pyropoikilocytosis' - 'spectrin, alpha, erythrocytic 1 (elliptocytosis 2)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Common hereditary elliptocytosis' Class: http://www.orpha.net/ORDO/Orphanet_119849 Label: spectrin, beta, erythrocytic - 'spectrin, beta, erythrocytic' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary pyropoikilocytosis' - 'spectrin, beta, erythrocytic' SubClassOf 'Disease-causing germline mutation(s) in' some 'Common hereditary elliptocytosis' - 'spectrin, beta, erythrocytic' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spherocytic elliptocytosis' Class: http://www.orpha.net/ORDO/Orphanet_119879 Label: signal transducer and activator of transcription 1, 91kDa + 'signal transducer and activator of transcription 1, 91kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome' Class: http://www.orpha.net/ORDO/Orphanet_285014 Label: Rare disease with thoracic aortic aneurysm and aortic dissection - 'Rare disease with thoracic aortic aneurysm and aortic dissection' SubClassOf 'Rare vascular disease' Class: http://www.orpha.net/ORDO/Orphanet_481 Label: Kennedy disease + 'Kennedy disease' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399685 Class: http://www.orpha.net/ORDO/Orphanet_122427 Label: major histocompatibility complex, class II, DR beta 1 - 'major histocompatibility complex, class II, DR beta 1' SubClassOf 'Major susceptibility factor in' some 'Pediatric systemic sclerosis' Class: http://www.orpha.net/ORDO/Orphanet_99329 Label: 48,XYYY syndrome - '48,XYYY syndrome' SubClassOf 'part_of' some 'Rare male infertility' + '48,XYYY syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_98313 Class: http://www.orpha.net/ORDO/Orphanet_289601 Label: Hereditary arterial and articular multiple calcification syndrome - 'Hereditary arterial and articular multiple calcification syndrome' SubClassOf 'part_of' some 'Rare vascular disease' Class: http://www.orpha.net/ORDO/Orphanet_167905 Label: mitochondrially encoded tRNA serine 2 (AGU/C) - 'mitochondrially encoded tRNA serine 2 (AGU/C)' SubClassOf 'Disease-causing germline mutation(s) in' some 'MELAS syndrome' - 'mitochondrially encoded tRNA serine 2 (AGU/C)' SubClassOf 'Disease-causing germline mutation(s) in' some 'MERRF syndrome' + 'mitochondrially encoded tRNA serine 2 (AGU/C)' SubClassOf 'Candidate gene tested in' some 'MERRF syndrome' + 'mitochondrially encoded tRNA serine 2 (AGU/C)' SubClassOf 'Candidate gene tested in' some 'MELAS syndrome' Class: http://www.orpha.net/ORDO/Orphanet_123996 Label: optic atrophy 1 (autosomal dominant) - 'optic atrophy 1 (autosomal dominant)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant optic atrophy and congenital deafness' Class: http://www.orpha.net/ORDO/Orphanet_391627 Label: eukaryotic translation initiation factor 2 alpha kinase 4 + 'eukaryotic translation initiation factor 2 alpha kinase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pulmonary capillary hemangiomatosis' Class: http://www.orpha.net/ORDO/Orphanet_268871 Label: Primary syringomyelia/hydromyelia - 'Primary syringomyelia/hydromyelia' SubClassOf 'morphological anomaly' - 'Primary syringomyelia/hydromyelia' SubClassOf 'has_prevalence' some 'Unknown' - 'Primary syringomyelia/hydromyelia' SubClassOf 'part_of' some 'Malformation of the neurenteric canal, spinal cord and column' + 'Primary syringomyelia/hydromyelia' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_268874 Label: Congenital hydromyelia - 'Congenital hydromyelia' SubClassOf 'clinical subtype' - 'Congenital hydromyelia' SubClassOf 'part_of' some 'Primary syringomyelia/hydromyelia' - 'Congenital hydromyelia' SubClassOf 'has_prevalence' some 'Unknown' + 'Congenital hydromyelia' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_91492 Label: Non-syndromic congenital cataract + 'Non-syndromic congenital cataract' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' Class: http://www.orpha.net/ORDO/Orphanet_511 Label: Maple syrup urine disease - 'Maple syrup urine disease' SubClassOf 'has_prevalence' some 'Unknown' + 'Maple syrup urine disease' SubClassOf 'has_prevalence' some '1-9 / 1 000 000' Class: http://www.orpha.net/ORDO/Orphanet_548 Label: Leprosy + 'Leprosy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399824 Class: http://www.orpha.net/ORDO/Orphanet_553 Label: Cushing syndrome - 'Cushing syndrome' SubClassOf 'Rare female infertility' - 'Cushing syndrome' SubClassOf 'Rare male infertility' Class: http://www.orpha.net/ORDO/Orphanet_586 Label: Cystic fibrosis - 'Cystic fibrosis' SubClassOf 'part_of' some 'Rare male infertility' - 'Cystic fibrosis' SubClassOf 'has_prevalence' some '1-9 / 100 000' + 'Cystic fibrosis' SubClassOf 'has_prevalence' some '1-5 / 10 000' + 'Cystic fibrosis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_400003 + 'Cystic fibrosis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399824 Class: http://www.orpha.net/ORDO/Orphanet_138906 Label: mitochondrially encoded tRNA glutamine - 'mitochondrially encoded tRNA glutamine' SubClassOf 'Disease-causing germline mutation(s) in' some 'MERRF syndrome' - 'mitochondrially encoded tRNA glutamine' SubClassOf 'Disease-causing germline mutation(s) in' some 'MELAS syndrome' + 'mitochondrially encoded tRNA glutamine' SubClassOf 'Candidate gene tested in' some 'MERRF syndrome' + 'mitochondrially encoded tRNA glutamine' SubClassOf 'Candidate gene tested in' some 'MELAS syndrome' Class: http://www.orpha.net/ORDO/Orphanet_137893 Label: Male infertility associated with large-headed multiflagellar polyploid spermatozoa - 'Male infertility associated with large-headed multiflagellar polyploid spermatozoa' SubClassOf 'part_of' some 'Genetic infertility' - 'Male infertility associated with large-headed multiflagellar polyploid spermatozoa' SubClassOf 'part_of' some 'Rare male infertility' - 'Male infertility associated with large-headed multiflagellar polyploid spermatozoa' SubClassOf 'disease' + 'Male infertility associated with large-headed multiflagellar polyploid spermatozoa' SubClassOf 'clinical subtype' + 'Male infertility associated with large-headed multiflagellar polyploid spermatozoa' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399808 Class: http://www.orpha.net/ORDO/Orphanet_370396 Label: Small cell carcinoma of the ovary - 'Small cell carcinoma of the ovary' SubClassOf 'part_of' some 'Rare ovarian cancer' + 'Small cell carcinoma of the ovary' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_398934 Class: http://www.orpha.net/ORDO/Orphanet_68380 Label: Mitochondrial disease - 'Mitochondrial disease' SubClassOf 'Non-acquired premature ovarian failure' Class: http://www.orpha.net/ORDO/Orphanet_138895 Label: mitochondrially encoded tRNA leucine 1 (UUA/G) - 'mitochondrially encoded tRNA leucine 1 (UUA/G)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kearns-Sayre syndrome' + 'mitochondrially encoded tRNA leucine 1 (UUA/G)' SubClassOf 'Candidate gene tested in' some 'Kearns-Sayre syndrome' Class: http://www.orpha.net/ORDO/Orphanet_606 Label: Proximal myotonic myopathy + 'Proximal myotonic myopathy' SubClassOf 'part_of' some 'Non-hypogonadotropic hypogonadism' Class: http://www.orpha.net/ORDO/Orphanet_91352 Label: Germinoma of the central nervous system - 'Germinoma of the central nervous system' SubClassOf 'disease' + 'Germinoma of the central nervous system' SubClassOf 'clinical subtype' + 'Germinoma of the central nervous system' SubClassOf 'part_of' some 'Extragonadal germinoma' Class: http://www.orpha.net/ORDO/Orphanet_648 Label: Noonan syndrome + 'Noonan syndrome' SubClassOf 'part_of' some 'Non-hypogonadotropic hypogonadism' Class: http://www.orpha.net/ORDO/Orphanet_97244 Label: Rigid spine syndrome + 'Rigid spine syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' Class: http://www.orpha.net/ORDO/Orphanet_3314 Label: Thiemann disease, familial form - 'Thiemann disease, familial form' SubClassOf 'part_of' some 'Osteochondritis dissecans' + 'Thiemann disease, familial form' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399391 + 'Thiemann disease, familial form' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399319 Class: http://www.orpha.net/ORDO/Orphanet_3347 Label: Tracheobronchomegaly - 'Tracheobronchomegaly' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Tracheobronchomegaly' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Tracheobronchomegaly' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' + 'Tracheobronchomegaly' SubClassOf 'has_inheritance' some 'sporadic' Class: http://www.orpha.net/ORDO/Orphanet_99995 Label: Complex regional pain syndrome type 1 + 'Complex regional pain syndrome type 1' SubClassOf 'has_prevalence' some 'Unknown' + 'Complex regional pain syndrome type 1' SubClassOf 'has_AgeOfOnset' some 'Variable' Class: http://www.orpha.net/ORDO/Orphanet_99994 Label: Complex regional pain syndrome type 2 + 'Complex regional pain syndrome type 2' SubClassOf 'has_AgeOfOnset' some 'Variable' + 'Complex regional pain syndrome type 2' SubClassOf 'has_prevalence' some 'Unknown' Class: http://www.orpha.net/ORDO/Orphanet_1827 Label: Acromelic frontonasal dysplasia - 'Acromelic frontonasal dysplasia' SubClassOf 'part_of' some 'Syndromic frontonasal dysplasia' + 'Acromelic frontonasal dysplasia' SubClassOf 'part_of' some 'Frontonasal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_783 Label: Rubinstein-Taybi syndrome - 'Rubinstein-Taybi syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'Rubinstein-Taybi syndrome' SubClassOf 'has_AgeOfOnset' some 'Variable' Class: http://www.orpha.net/ORDO/Orphanet_168569 Label: H syndrome - 'H syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' + 'H syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood' Class: http://www.orpha.net/ORDO/Orphanet_798 Label: Schinzel-Giedion syndrome + 'Schinzel-Giedion syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_739 Label: Prader-Willi syndrome - 'Prader-Willi syndrome' SubClassOf 'part_of' some 'Rare male infertility' + 'Prader-Willi syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399846 Class: http://www.orpha.net/ORDO/Orphanet_99987 Label: Anophthalmia - esophageal-genital syndrome - 'Anophthalmia - esophageal-genital syndrome' SubClassOf 'clinical subtype' - 'Anophthalmia - esophageal-genital syndrome' SubClassOf 'part_of' some 'Anophthalmia/microphthalmia - esophageal atresia' - 'Anophthalmia - esophageal-genital syndrome' SubClassOf 'part_of' some 'Disease associated with non-acquired combined pituitary hormone deficiency' + 'Anophthalmia - esophageal-genital syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_755 Label: Leydig cell hypoplasia - 'Leydig cell hypoplasia' SubClassOf 'part_of' some 'Rare male infertility' + 'Leydig cell hypoplasia' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399685 Class: http://www.orpha.net/ORDO/Orphanet_753 Label: 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency + '46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399685 Class: http://www.orpha.net/ORDO/Orphanet_754 Label: Androgen insensitivity syndrome - 'Androgen insensitivity syndrome' SubClassOf 'Rare male infertility' + 'Androgen insensitivity syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_399685 Class: http://www.orpha.net/ORDO/Orphanet_752 Label: 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency + '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399849 + '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399685 + '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_400018 Class: http://www.orpha.net/ORDO/Orphanet_99966 Label: Atypical teratoid tumor + 'Atypical teratoid tumor' SubClassOf 'part_of' some 'Embryonal tumor of the neuroepithelial tissue' Class: http://www.orpha.net/ORDO/Orphanet_121102 Label: dihydrolipoamide dehydrogenase - 'dihydrolipoamide dehydrogenase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Classic maple syrup urine disease' - 'dihydrolipoamide dehydrogenase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Thiamine-responsive maple syrup urine disease' - 'dihydrolipoamide dehydrogenase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intermittent maple syrup urine disease' - 'dihydrolipoamide dehydrogenase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Intermediate maple syrup urine disease' Class: http://www.orpha.net/ORDO/Orphanet_731 Label: Autosomal recessive polycystic kidney disease - 'Autosomal recessive polycystic kidney disease' SubClassOf 'part_of' some 'Rare male infertility' + 'Autosomal recessive polycystic kidney disease' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_400003 + 'Autosomal recessive polycystic kidney disease' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399824 Class: http://www.orpha.net/ORDO/Orphanet_121117 Label: dystrophin + 'dystrophin' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_238666 Label: Isolated congenital hypogonadotropic hypogonadism + 'Isolated congenital hypogonadotropic hypogonadism' SubClassOf http://www.orpha.net/ORDO/Orphanet_399839 Class: http://www.orpha.net/ORDO/Orphanet_3280 Label: Syringomyelia - 'Syringomyelia' SubClassOf 'part_of' some 'Medullar disease' - 'Syringomyelia' SubClassOf 'disease' + 'Syringomyelia' SubClassOf 'group of disorders' + 'Syringomyelia' SubClassOf 'Medullar disease' Class: http://www.orpha.net/ORDO/Orphanet_3212 Label: Autosomal dominant optic atrophy and congenital deafness - 'Autosomal dominant optic atrophy and congenital deafness' SubClassOf 'disease' - 'Autosomal dominant optic atrophy and congenital deafness' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Autosomal dominant optic atrophy and congenital deafness' SubClassOf 'has_inheritance' some 'autosomal dominant' - 'Autosomal dominant optic atrophy and congenital deafness' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Autosomal dominant optic atrophy and congenital deafness' SubClassOf 'part_of' some 'Autosomal dominant optic atrophy' - 'Autosomal dominant optic atrophy and congenital deafness' SubClassOf 'has_AgeOfOnset' some 'Childhood' - 'Autosomal dominant optic atrophy and congenital deafness' SubClassOf 'part_of' some 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' + 'Autosomal dominant optic atrophy and congenital deafness' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_95702 Label: Cytomegalic congenital adrenal hypoplasia - 'Cytomegalic congenital adrenal hypoplasia' SubClassOf 'part_of' some 'Rare male infertility' Class: http://www.orpha.net/ORDO/Orphanet_46658 Label: Primordial short stature - microdontia - opalescent and rootless teeth - 'Primordial short stature - microdontia - opalescent and rootless teeth' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Primordial short stature - microdontia - opalescent and rootless teeth' SubClassOf 'malformation syndrome' - 'Primordial short stature - microdontia - opalescent and rootless teeth' SubClassOf 'part_of' some 'Malformative syndrome with dentinogenesis imperfecta' - 'Primordial short stature - microdontia - opalescent and rootless teeth' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Primordial short stature - microdontia - opalescent and rootless teeth' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Primordial short stature - microdontia - opalescent and rootless teeth' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'Primordial short stature - microdontia - opalescent and rootless teeth' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Primordial short stature - microdontia - opalescent and rootless teeth' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' + 'Primordial short stature - microdontia - opalescent and rootless teeth' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1916 Label: Diethylstilbestrol syndrome + 'Diethylstilbestrol syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399882 Class: http://www.orpha.net/ORDO/Orphanet_860 Label: Congenitally uncorrected transposition of the great arteries - 'Congenitally uncorrected transposition of the great arteries' SubClassOf 'Genetic cardiac anomaly' - 'Congenitally uncorrected transposition of the great arteries' SubClassOf 'group of disorders' - 'Congenitally uncorrected transposition of the great arteries' SubClassOf 'Transposition of the great arteries' + 'Congenitally uncorrected transposition of the great arteries' SubClassOf 'part_of' some 'Transposition of the great arteries' + 'Congenitally uncorrected transposition of the great arteries' SubClassOf 'morphological anomaly' + 'Congenitally uncorrected transposition of the great arteries' SubClassOf 'has_prevalence' some 'Unknown' + 'Congenitally uncorrected transposition of the great arteries' SubClassOf 'part_of' some 'Genetic cardiac anomaly' + 'Congenitally uncorrected transposition of the great arteries' SubClassOf 'has_inheritance' some 'multigenic / multifactorial' + 'Congenitally uncorrected transposition of the great arteries' SubClassOf 'has_inheritance' some 'sporadic' + 'Congenitally uncorrected transposition of the great arteries' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' Class: http://www.orpha.net/ORDO/Orphanet_870 Label: Down syndrome + 'Down syndrome' SubClassOf 'part_of' some 'Non-hypogonadotropic hypogonadism' Class: http://www.orpha.net/ORDO/Orphanet_881 Label: Turner syndrome - 'Turner syndrome' SubClassOf 'part_of' some 'Rare female infertility' + 'Turner syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399877 Class: http://www.orpha.net/ORDO/Orphanet_1993 Label: Pai syndrome - 'Pai syndrome' SubClassOf 'part_of' some 'Syndromic frontonasal dysplasia' + 'Pai syndrome' SubClassOf 'part_of' some 'Frontonasal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_3135 Label: Familial Scheuermann disease - 'Familial Scheuermann disease' SubClassOf 'part_of' some 'Spondylodysplastic dysplasia' + 'Familial Scheuermann disease' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399319 + 'Familial Scheuermann disease' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399391 Class: http://www.orpha.net/ORDO/Orphanet_57196 Label: Medial condensing osteitis of the clavicle - 'Medial condensing osteitis of the clavicle' SubClassOf 'part_of' some 'Osteochondritis dissecans' + 'Medial condensing osteitis of the clavicle' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399319 Class: http://www.orpha.net/ORDO/Orphanet_395960 Label: chromosome 11 open reading frame 95 - 'chromosome 11 open reading frame 95' SubClassOf 'Part of a fusion gene in' some 'Anaplastic ependymoma' + 'chromosome 11 open reading frame 95' SubClassOf 'Part of a fusion gene in' some 'Ependymoma' Class: http://www.orpha.net/ORDO/Orphanet_3143 Label: Autoimmune polyendocrinopathy type 2 + 'Autoimmune polyendocrinopathy type 2' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399853 Class: http://www.orpha.net/ORDO/Orphanet_395954 Label: v-rel avian reticuloendotheliosis viral oncogene homolog A - 'v-rel avian reticuloendotheliosis viral oncogene homolog A' SubClassOf 'Part of a fusion gene in' some 'Anaplastic ependymoma' + 'v-rel avian reticuloendotheliosis viral oncogene homolog A' SubClassOf 'Part of a fusion gene in' some 'Ependymoma' Class: http://www.orpha.net/ORDO/Orphanet_3109 Label: Mayer-Rokitansky-K�ster-Hauser syndrome + 'Mayer-Rokitansky-K�ster-Hauser syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_400025 + 'Mayer-Rokitansky-K�ster-Hauser syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399882 Class: http://www.orpha.net/ORDO/Orphanet_3118 Label: Rudiger syndrome - 'Rudiger syndrome' SubClassOf 'part_of' some 'Orofacial clefting syndrome' - 'Rudiger syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal/infancy' - 'Rudiger syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Rudiger syndrome' SubClassOf 'has_prevalence' some '1 / 1 000 000' - 'Rudiger syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive' - 'Rudiger syndrome' SubClassOf 'part_of' some 'Rare intellectual disability with developmental anomaly' - 'Rudiger syndrome' SubClassOf 'part_of' some 'Rare genetic intellectual disability with developmental anomaly' - 'Rudiger syndrome' SubClassOf 'malformation syndrome' + 'Rudiger syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_230845 Label: Ehlers-Danlos syndrome, vascular-like type - 'Ehlers-Danlos syndrome, vascular-like type' SubClassOf 'part_of' some 'Rare vascular disease' Class: http://www.orpha.net/ORDO/Orphanet_314889 Label: Autosomal dominant proximal renal tubular acidosis + 'Autosomal dominant proximal renal tubular acidosis' SubClassOf 'has_AgeOfOnset' some 'Childhood' + 'Autosomal dominant proximal renal tubular acidosis' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Autosomal dominant proximal renal tubular acidosis' SubClassOf 'has_inheritance' some 'autosomal dominant' Class: http://www.orpha.net/ORDO/Orphanet_206599 Label: Isolated asymptomatic elevation of creatine phosphokinase - 'Isolated asymptomatic elevation of creatine phosphokinase' SubClassOf 'disease' + 'Isolated asymptomatic elevation of creatine phosphokinase' SubClassOf 'biological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_280679 Label: Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism - 'Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism' SubClassOf 'part_of' some 'Rare male infertility' - 'Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism' SubClassOf 'part_of' some 'Syndrome with hypogonadotropic hypogonadism' + 'Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism' SubClassOf 'part_of' some 'Non-hypogonadotropic hypogonadism' Class: http://www.orpha.net/ORDO/Orphanet_79239 Label: Classic galactosemia + 'Classic galactosemia' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399853 + 'Classic galactosemia' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_400022 Class: http://www.orpha.net/ORDO/Orphanet_99782 Label: Familial articular chondrocalcinosis type 2 - 'Familial articular chondrocalcinosis type 2' SubClassOf 'part_of' some 'Familial articular chondrocalcinosis' - 'Familial articular chondrocalcinosis type 2' SubClassOf 'clinical subtype' + 'Familial articular chondrocalcinosis type 2' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_99781 Label: Familial articular chondrocalcinosis type 1 - 'Familial articular chondrocalcinosis type 1' SubClassOf 'part_of' some 'Familial articular chondrocalcinosis' - 'Familial articular chondrocalcinosis type 1' SubClassOf 'clinical subtype' + 'Familial articular chondrocalcinosis type 1' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_983 Label: Testicular regression syndrome + 'Testicular regression syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_98313 Class: http://www.orpha.net/ORDO/Orphanet_1646 Label: Partial chromosome Y deletion - 'Partial chromosome Y deletion' SubClassOf 'part_of' some 'Rare male infertility' + 'Partial chromosome Y deletion' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399775 Class: http://www.orpha.net/ORDO/Orphanet_48736 Label: Intracranial embryonal carcinoma - 'Intracranial embryonal carcinoma' SubClassOf 'disease' + 'Intracranial embryonal carcinoma' SubClassOf 'clinical subtype' + 'Intracranial embryonal carcinoma' SubClassOf 'part_of' some 'Embryonal carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_121320 Label: eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa + 'eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Late infantile CACH syndrome' Class: http://www.orpha.net/ORDO/Orphanet_121326 Label: eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa + 'eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Late infantile CACH syndrome' Class: http://www.orpha.net/ORDO/Orphanet_963 Label: Acromegaly + 'Acromegaly' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399831 Class: http://www.orpha.net/ORDO/Orphanet_121340 Label: eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa + 'eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Late infantile CACH syndrome' Class: http://www.orpha.net/ORDO/Orphanet_121330 Label: eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa + 'eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Late infantile CACH syndrome' Class: http://www.orpha.net/ORDO/Orphanet_171709 Label: Globozoospermia - 'Globozoospermia' SubClassOf 'disease' - 'Globozoospermia' SubClassOf 'part_of' some 'Rare male infertility' - 'Globozoospermia' SubClassOf 'part_of' some 'Genetic infertility' + 'Globozoospermia' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_399808 + 'Globozoospermia' SubClassOf 'clinical subtype' Class: http://www.orpha.net/ORDO/Orphanet_121334 Label: eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa + 'eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa' SubClassOf 'Disease-causing germline mutation(s) in' some 'Late infantile CACH syndrome' Class: http://www.orpha.net/ORDO/Orphanet_159773 Label: mitochondrially encoded ATP synthase 8 - 'mitochondrially encoded ATP synthase 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kearns-Sayre syndrome' + 'mitochondrially encoded ATP synthase 8' SubClassOf 'Candidate gene tested in' some 'Kearns-Sayre syndrome' Class: http://www.orpha.net/ORDO/Orphanet_314718 Label: Lethal arteriopathy syndrome due to FBLN4 deficiency - 'Lethal arteriopathy syndrome due to FBLN4 deficiency' SubClassOf 'part_of' some 'Rare vascular disease' - 'Lethal arteriopathy syndrome due to FBLN4 deficiency' SubClassOf 'part_of' some 'Rare genetic vascular disease' + 'Lethal arteriopathy syndrome due to FBLN4 deficiency' SubClassOf 'part_of' some 'Rare disease with thoracic aortic aneurysm and aortic dissection' Class: http://www.orpha.net/ORDO/Orphanet_280553 Label: Fatal infantile hypertonic myofibrillar myopathy - 'Fatal infantile hypertonic myofibrillar myopathy' SubClassOf 'part_of' some 'Myofibrillar myopathy' + 'Fatal infantile hypertonic myofibrillar myopathy' SubClassOf 'Alpha-crystallinopathy' Class: http://www.orpha.net/ORDO/Orphanet_75233 Label: Wolman disease - 'Wolman disease' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Wolman disease' SubClassOf 'has_prevalence' some 'Unknown' Class: http://www.orpha.net/ORDO/Orphanet_99892 Label: ACTH-dependent Cushing syndrome + 'ACTH-dependent Cushing syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_399584 + 'ACTH-dependent Cushing syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_399849 Class: http://www.orpha.net/ORDO/Orphanet_99893 Label: ACTH-independent Cushing syndrome + 'ACTH-independent Cushing syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_399849 + 'ACTH-independent Cushing syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_399584 Class: http://www.orpha.net/ORDO/Orphanet_1772 Label: 45,X/46,XY mixed gonadal dysgenesis - '45,X/46,XY mixed gonadal dysgenesis' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' + '45,X/46,XY mixed gonadal dysgenesis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_98313 + '45,X/46,XY mixed gonadal dysgenesis' SubClassOf 'has_AgeOfOnset' some 'Variable' Class: http://www.orpha.net/ORDO/Orphanet_99856 Label: Primary syringomyelia - 'Primary syringomyelia' SubClassOf 'part_of' some 'Primary syringomyelia/hydromyelia' - 'Primary syringomyelia' SubClassOf 'clinical subtype' + 'Primary syringomyelia' SubClassOf 'part_of' some 'Malformation of the neurenteric canal, spinal cord and column' + 'Primary syringomyelia' SubClassOf 'morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_99857 Label: Secondary syringomyelia - 'Secondary syringomyelia' SubClassOf 'clinical subtype' + 'Secondary syringomyelia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_99858 Label: Idiopathic syringomyelia - 'Idiopathic syringomyelia' SubClassOf 'part_of' some 'Syringomyelia' + 'Idiopathic syringomyelia' SubClassOf 'part_of' some 'Primary syringomyelia' Class: http://www.orpha.net/ORDO/Orphanet_99859 Label: Posttraumatic syringomyelia - 'Posttraumatic syringomyelia' SubClassOf 'clinical subtype' - 'Posttraumatic syringomyelia' SubClassOf 'part_of' some 'Syringomyelia' + 'Posttraumatic syringomyelia' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_233655 Label: Rare genetic vascular disease + 'Rare genetic vascular disease' SubClassOf 'Rare vascular disease' Class: http://www.orpha.net/ORDO/Orphanet_83473 Label: Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus + 'Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus' SubClassOf 'part_of' some 'Genetic syndrome with a central nervous system malformation as major feature' Class: http://www.orpha.net/ORDO/Orphanet_1791 Label: Fronto-facio-nasal dysostosis - 'Fronto-facio-nasal dysostosis' SubClassOf 'part_of' some 'Syndromic frontonasal dysplasia' + 'Fronto-facio-nasal dysostosis' SubClassOf 'part_of' some 'Frontonasal dysplasia' 2. New Classes: Class: http://www.orpha.net/ORDO/Orphanet_168972 Label: Kahrizi syndrome + 'Kahrizi syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1474 Label: Colobomatous - microphthalmia - heart disease - hearing loss + 'Colobomatous - microphthalmia - heart disease - hearing loss' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2051 Label: Fraser-like syndrome + 'Fraser-like syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1432 Label: Autosomal dominant chorioretinopathy - microcephaly + 'Autosomal dominant chorioretinopathy - microcephaly' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1401 Label: CHAND syndrome + 'CHAND syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_397744 Label: Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome + 'Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome' SubClassOf 'part_of' some 'Autosomal dominant distal myopathy' + 'Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2125 Label: Sacral hemangiomas - multiple congenital abnormalities + 'Sacral hemangiomas - multiple congenital abnormalities' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2113 Label: Congenital hypothalamic hamartoma syndrome + 'Congenital hypothalamic hamartoma syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_399980 Label: Rare genetic male infertility + 'Rare genetic male infertility' SubClassOf 'group of disorders' + 'Rare genetic male infertility' SubClassOf 'Genetic infertility' Class: http://www.orpha.net/ORDO/Orphanet_399983 Label: Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin + 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' SubClassOf 'Rare genetic male infertility' + 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_97552 Label: Steroid-sensitive nephrotic syndrome without renal biopsy + 'Steroid-sensitive nephrotic syndrome without renal biopsy' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_399998 Label: Male infertility due to obstructive azoospermia of genetic origin + 'Male infertility due to obstructive azoospermia of genetic origin' SubClassOf 'group of disorders' + 'Male infertility due to obstructive azoospermia of genetic origin' SubClassOf 'Rare genetic male infertility' Class: http://www.orpha.net/ORDO/Orphanet_399994 Label: Rare male infertility due to adrenal disorder of genetic origin + 'Rare male infertility due to adrenal disorder of genetic origin' SubClassOf 'group of disorders' + 'Rare male infertility due to adrenal disorder of genetic origin' SubClassOf 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' Class: http://www.orpha.net/ORDO/Orphanet_1557 Label: Cutis verticis gyrata - intellectual disability + 'Cutis verticis gyrata - intellectual disability' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1569 Label: De Sanctis-Cacchione syndrome + 'De Sanctis-Cacchione syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2174 Label: Hunter-Carpenter-McDonald syndrome + 'Hunter-Carpenter-McDonald syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_93943 Label: Corpus callosum dysgenesis - hypopituitarism + 'Corpus callosum dysgenesis - hypopituitarism' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_93944 Label: X-linked intellectual disability, Fichera type + 'X-linked intellectual disability, Fichera type' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_93968 Label: Meningocele + 'Meningocele' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2244 Label: Hypopituitarism - microphthalmia + 'Hypopituitarism - microphthalmia' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2243 Label: Hypopituitarism - micropenis - cleft lip/palate + 'Hypopituitarism - micropenis - cleft lip/palate' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2245 Label: Hypopituitarism - postaxial polydactyly + 'Hypopituitarism - postaxial polydactyly' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_217315 Label: Cutis verticis gyrata - retinitis pigmentosa - sensorineural deafness + 'Cutis verticis gyrata - retinitis pigmentosa - sensorineural deafness' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_90649 Label: Oral-facial-digital syndrome type 7 + 'Oral-facial-digital syndrome type 7' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_399882 Label: Female infertility due to an implantation defect + 'Female infertility due to an implantation defect' SubClassOf 'group of disorders' + 'Female infertility due to an implantation defect' SubClassOf 'Rare female infertility' Class: http://www.orpha.net/ORDO/Orphanet_1245 Label: BIDS syndrome + 'BIDS syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_3391 Label: Odonto-onycho-hypohidrotic dysplasia - midline scalp defects + 'Odonto-onycho-hypohidrotic dysplasia - midline scalp defects' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_399877 Label: Female infertility due to gonadal dysgenesis + 'Female infertility due to gonadal dysgenesis' SubClassOf 'Rare genetic female infertility' + 'Female infertility due to gonadal dysgenesis' SubClassOf 'Rare female infertility' + 'Female infertility due to gonadal dysgenesis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1251 Label: Blepharofacioskeletal syndrome + 'Blepharofacioskeletal syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1219 Label: Aurocephalosyndactyly + 'Aurocephalosyndactyly' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_399839 Label: Rare female infertility due to a congenital hypogonadotropic hypogonadism + 'Rare female infertility due to a congenital hypogonadotropic hypogonadism' SubClassOf 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder' + 'Rare female infertility due to a congenital hypogonadotropic hypogonadism' SubClassOf 'group of disorders' + 'Rare female infertility due to a congenital hypogonadotropic hypogonadism' SubClassOf 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' Class: http://www.orpha.net/ORDO/Orphanet_399846 Label: Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism + 'Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism' SubClassOf 'Rare female infertility due to a congenital hypogonadotropic hypogonadism' + 'Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_399831 Label: Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder + 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder' SubClassOf 'Rare female infertility' + 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_50816 Label: Spondylometaphyseal dysplasia with combined immunodeficiency + 'Spondylometaphyseal dysplasia with combined immunodeficiency' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_399849 Label: Rare female infertility due to adrenal disorder + 'Rare female infertility due to adrenal disorder' SubClassOf 'group of disorders' + 'Rare female infertility due to adrenal disorder' SubClassOf 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder' Class: http://www.orpha.net/ORDO/Orphanet_399853 Label: Rare female infertility due to an anomaly of ovarian function + 'Rare female infertility due to an anomaly of ovarian function' SubClassOf 'group of disorders' + 'Rare female infertility due to an anomaly of ovarian function' SubClassOf 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder' Class: http://www.orpha.net/ORDO/Orphanet_1271 Label: Bowen syndrome + 'Bowen syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_157855 Label: HARP syndrome + 'HARP syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_400003 Label: Rare genetic disorder with obstructive azoospermia + 'Rare genetic disorder with obstructive azoospermia' SubClassOf 'Male infertility due to obstructive azoospermia of genetic origin' + 'Rare genetic disorder with obstructive azoospermia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_400008 Label: Rare genetic female infertility + 'Rare genetic female infertility' SubClassOf 'Genetic infertility' + 'Rare genetic female infertility' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98968 Label: Central discoid corneal dystrophy + 'Central discoid corneal dystrophy' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_400025 Label: Female infertility due to an implantation defect of genetic origin + 'Female infertility due to an implantation defect of genetic origin' SubClassOf 'group of disorders' + 'Female infertility due to an implantation defect of genetic origin' SubClassOf 'Rare genetic female infertility' Class: http://www.orpha.net/ORDO/Orphanet_400022 Label: Rare female infertility due to an anomaly of ovarian function of genetic origin + 'Rare female infertility due to an anomaly of ovarian function of genetic origin' SubClassOf 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' + 'Rare female infertility due to an anomaly of ovarian function of genetic origin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_400018 Label: Rare female infertility due to adrenal disorder of genetic origin + 'Rare female infertility due to adrenal disorder of genetic origin' SubClassOf 'group of disorders' + 'Rare female infertility due to adrenal disorder of genetic origin' SubClassOf 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' Class: http://www.orpha.net/ORDO/Orphanet_400011 Label: Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin + 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' SubClassOf 'group of disorders' + 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' SubClassOf 'Rare genetic female infertility' Class: http://www.orpha.net/ORDO/Orphanet_2389 Label: Lewis-Pashayan syndrome + 'Lewis-Pashayan syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2355 Label: Kumar-Levick syndrome + 'Kumar-Levick syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_3438 Label: Biliary tract malformation - renal failure + 'Biliary tract malformation - renal failure' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_3423 Label: Vasquez-Hurst-Sotos syndrome + 'Vasquez-Hurst-Sotos syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_399813 Label: Male infertility due to sperm motility disorder + 'Male infertility due to sperm motility disorder' SubClassOf 'Male infertility due to sperm disorder' + 'Male infertility due to sperm motility disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_399808 Label: Male infertility with teratozoospermia due to single gene mutation + 'Male infertility with teratozoospermia due to single gene mutation' SubClassOf 'disease' + 'Male infertility with teratozoospermia due to single gene mutation' SubClassOf 'part_of' some 'Male infertility with spermatogenesis disorder due to single gene mutation' Class: http://www.orpha.net/ORDO/Orphanet_399805 Label: Male infertility with azoospermia or oligozoospermia due to single gene mutation + 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' SubClassOf 'part_of' some 'Male infertility with spermatogenesis disorder due to single gene mutation' + 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_399824 Label: Rare disorder with obstructive azoospermia + 'Rare disorder with obstructive azoospermia' SubClassOf 'Male infertility due to obstructive azoospermia' + 'Rare disorder with obstructive azoospermia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_399786 Label: Male infertility with spermatogenesis disorder due to single gene mutation + 'Male infertility with spermatogenesis disorder due to single gene mutation' SubClassOf 'group of disorders' + 'Male infertility with spermatogenesis disorder due to single gene mutation' SubClassOf 'Male infertility with spermatogenesis disorder' Class: http://www.orpha.net/ORDO/Orphanet_399775 Label: Male infertility with spermatogenesis disorder + 'Male infertility with spermatogenesis disorder' SubClassOf 'group of disorders' + 'Male infertility with spermatogenesis disorder' SubClassOf 'Male infertility due to sperm disorder' Class: http://www.orpha.net/ORDO/Orphanet_399771 Label: Male infertility due to sperm disorder + 'Male infertility due to sperm disorder' SubClassOf 'Male infertility due to gonadal dysgenesis or sperm disorder' + 'Male infertility due to sperm disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_399764 Label: Male infertility due to gonadal dysgenesis or sperm disorder + 'Male infertility due to gonadal dysgenesis or sperm disorder' SubClassOf 'group of disorders' + 'Male infertility due to gonadal dysgenesis or sperm disorder' SubClassOf 'Rare male infertility' + 'Male infertility due to gonadal dysgenesis or sperm disorder' SubClassOf 'Rare genetic male infertility' Class: http://www.orpha.net/ORDO/Orphanet_98812 Label: Paroxysmal hypnogenic dyskinesia + 'Paroxysmal hypnogenic dyskinesia' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_397685 Label: Familial hyperprolactinemia + 'Familial hyperprolactinemia' SubClassOf 'part_of' some 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder' + 'Familial hyperprolactinemia' SubClassOf 'part_of' some 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' + 'Familial hyperprolactinemia' SubClassOf 'part_of' some 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' + 'Familial hyperprolactinemia' SubClassOf 'part_of' some 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder' + 'Familial hyperprolactinemia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1301 Label: Bronchiectasis - oligospermia + 'Bronchiectasis - oligospermia' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1317 Label: CAMFAK syndrome + 'CAMFAK syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_98894 Label: Congenital muscular dystrophy type 1D + 'Congenital muscular dystrophy type 1D' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_98861 Label: Primary ciliary dyskinesia, Kartagener type + 'Primary ciliary dyskinesia, Kartagener type' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_398677 Label: solute carrier family 7, member 2-intron1 (long non-coding RNA) + 'solute carrier family 7, member 2-intron1 (long non-coding RNA)' SubClassOf 'Disease-causing germline mutation(s) in' some 'RAVINE syndrome' + 'solute carrier family 7, member 2-intron1 (long non-coding RNA)' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_2453 Label: Malpuech syndrome + 'Malpuech syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2419 Label: Lymphedema - ptosis + 'Lymphedema - ptosis' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_34 Label: Pipecolic acidemia + 'Pipecolic acidemia' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_91129 Label: Anophthalmia - heart and pulmonary anomalies - intellectual disability + 'Anophthalmia - heart and pulmonary anomalies - intellectual disability' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_399685 Label: Rare male infertility due to testicular endocrine disorder + 'Rare male infertility due to testicular endocrine disorder' SubClassOf 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder' + 'Rare male infertility due to testicular endocrine disorder' SubClassOf 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' + 'Rare male infertility due to testicular endocrine disorder' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_231256 Label: Beta-thalassemia - trichothiodystrophy + 'Beta-thalassemia - trichothiodystrophy' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1011 Label: Alopecia - hypogonadism - extrapyramidal disorder + 'Alopecia - hypogonadism - extrapyramidal disorder' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_400642 Label: prolactin receptor + 'prolactin receptor' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Multiple fibroadenoma of the breast' + 'prolactin receptor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial hyperprolactinemia' + 'prolactin receptor' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_400617 Label: F-box protein 38 + 'F-box protein 38' SubClassOf 'Disease-causing germline mutation(s) in' some 'Distal hereditary motor neuropathy type 2' + 'F-box protein 38' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_85281 Label: intellectual disability, X-linked, Lubs type + 'intellectual disability, X-linked, Lubs type' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2506 Label: Michels syndrome + 'Michels syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_75790 Label: Pollitt syndrome + 'Pollitt syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_75789 Label: SIBIDS syndrome + 'SIBIDS syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2569 Label: Moore-Federman syndrome + 'Moore-Federman syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_399572 Label: Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder + 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder' SubClassOf 'group of disorders' + 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder' SubClassOf 'Rare male infertility' Class: http://www.orpha.net/ORDO/Orphanet_399584 Label: Rare male infertility due to adrenal disorder + 'Rare male infertility due to adrenal disorder' SubClassOf 'group of disorders' + 'Rare male infertility due to adrenal disorder' SubClassOf 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder' Class: http://www.orpha.net/ORDO/Orphanet_1102 Label: Anophthalmia - hypothalamo-pituitary insufficiency + 'Anophthalmia - hypothalamo-pituitary insufficiency' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1139 Label: Arthrogryposis - epileptic seizures - migrational brain disorder + 'Arthrogryposis - epileptic seizures - migrational brain disorder' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1137 Label: Pulmonary aortic stenosis obstructive uropathy + 'Pulmonary aortic stenosis obstructive uropathy' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1060 Label: Angiomatosis systemic cystic - Seip syndrome + 'Angiomatosis systemic cystic - Seip syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2640 Label: Short limb-dwarf lethal, McAlister-Crane type + 'Short limb-dwarf lethal, McAlister-Crane type' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2654 Label: Syndesmodysplasic dwarfism + 'Syndesmodysplasic dwarfism' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2661 Label: Dwarfism - tall vertebrae + 'Dwarfism - tall vertebrae' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_56965 Label: Progressive bulbar paralysis of childhood + 'Progressive bulbar paralysis of childhood' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2687 Label: Neutropenia - hyperlymphocytosis with large granular lymphocytes + 'Neutropenia - hyperlymphocytosis with large granular lymphocytes' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2689 Label: Intermittent neutropenia + 'Intermittent neutropenia' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2691 Label: Nevo syndrome + 'Nevo syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_400453 Label: mitochondrially encoded 16S RNA + 'mitochondrially encoded 16S RNA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited mitochondrial hypertrophic cardiomyopathy' + 'mitochondrially encoded 16S RNA' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_400463 Label: tubby bipartite transcription factor + 'tubby bipartite transcription factor' SubClassOf 'gene' + 'tubby bipartite transcription factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' Class: http://www.orpha.net/ORDO/Orphanet_210566 Label: Myoclonic dystonia 15 + 'Myoclonic dystonia 15' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_178503 Label: Dursun syndrome + 'Dursun syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_400438 Label: phosphatidylinositol glycan anchor biosynthesis, class W + 'phosphatidylinositol glycan anchor biosynthesis, class W' SubClassOf 'gene' + 'phosphatidylinositol glycan anchor biosynthesis, class W' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hyperphosphatasia-intellectual disability syndrome' Class: http://www.orpha.net/ORDO/Orphanet_400443 Label: DnaJ (Hsp40) homolog, subfamily C, member 13 + 'DnaJ (Hsp40) homolog, subfamily C, member 13' SubClassOf 'Disease-causing germline mutation(s) in' some 'Young adult-onset Parkinsonism' + 'DnaJ (Hsp40) homolog, subfamily C, member 13' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_2775 Label: Autosomal recessive carpotarsal osteolysis + 'Autosomal recessive carpotarsal osteolysis' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2739 Label: Onycho-tricho-dysplasia - neutropenia + 'Onycho-tricho-dysplasia - neutropenia' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_37629 Label: Neonatal neutropenia + 'Neonatal neutropenia' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_90341 Label: Early-onset sarcoidosis + 'Early-onset sarcoidosis' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_90338 Label: Margarita island ectodermal dysplasia + 'Margarita island ectodermal dysplasia' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_77241 Label: Lymphedema praecox + 'Lymphedema praecox' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_77242 Label: Lymphedema tarda + 'Lymphedema tarda' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_399391 Label: Osteochondrosis of genetic origin + 'Osteochondrosis of genetic origin' SubClassOf 'group of disorders' + 'Osteochondrosis of genetic origin' SubClassOf 'Osteonecrosis of genetic origin' Class: http://www.orpha.net/ORDO/Orphanet_399388 Label: Avascular necrosis of genetic origin + 'Avascular necrosis of genetic origin' SubClassOf 'Osteonecrosis of genetic origin' + 'Avascular necrosis of genetic origin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_399380 Label: Osteonecrosis of genetic origin + 'Osteonecrosis of genetic origin' SubClassOf 'Rare genetic bone disease' + 'Osteonecrosis of genetic origin' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_398201 Label: 5'-nucleotidase, cytosolic II + '5'-nucleotidase, cytosolic II' SubClassOf 'gene' + '5'-nucleotidase, cytosolic II' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 45' Class: http://www.orpha.net/ORDO/Orphanet_89833 Label: Palmoplantar keratoderma with tonotubular keratin + 'Palmoplantar keratoderma with tonotubular keratin' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_399319 Label: Osteochondrosis + 'Osteochondrosis' SubClassOf 'group of disorders' + 'Osteochondrosis' SubClassOf 'Osteonecrosis' Class: http://www.orpha.net/ORDO/Orphanet_399329 Label: Epiphysiolysis of the hip + 'Epiphysiolysis of the hip' SubClassOf 'disease' + 'Epiphysiolysis of the hip' SubClassOf 'part_of' some 'Osteonecrosis' Class: http://www.orpha.net/ORDO/Orphanet_54238 Label: Myotonic dystrophy type 3 + 'Myotonic dystrophy type 3' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_85333 Label: intellectual disability, X-linked - Spastic paraplegia with iron deposits + 'intellectual disability, X-linked - Spastic paraplegia with iron deposits' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_399302 Label: Primary avascular necrosis + 'Primary avascular necrosis' SubClassOf 'group of disorders' + 'Primary avascular necrosis' SubClassOf 'Avascular necrosis' Class: http://www.orpha.net/ORDO/Orphanet_399307 Label: Idiopathic avascular necrosis + 'Idiopathic avascular necrosis' SubClassOf 'part_of' some 'Primary avascular necrosis' + 'Idiopathic avascular necrosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2895 Label: Pinsky-Di George-Harley syndrome + 'Pinsky-Di George-Harley syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_216989 Label: Autosomal dominant dystrophic epidermolysis bullosa, Pasini type + 'Autosomal dominant dystrophic epidermolysis bullosa, Pasini type' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2829 Label: Partington-Anderson syndrome + 'Partington-Anderson syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_93280 Label: Spondyloepiphyseal dysplasia, Omani type + 'Spondyloepiphyseal dysplasia, Omani type' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2853 Label: Serpentine fibula - polycystic kidneys + 'Serpentine fibula - polycystic kidneys' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2848 Label: Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome + 'Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_93275 Label: Thanatophoric dysplasia, Glasgow variant + 'Thanatophoric dysplasia, Glasgow variant' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_399293 Label: Osteonecrosis of the jaw + 'Osteonecrosis of the jaw' SubClassOf 'disease' + 'Osteonecrosis of the jaw' SubClassOf 'part_of' some 'Secondary avascular necrosis' Class: http://www.orpha.net/ORDO/Orphanet_63269 Label: Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis + 'Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2981 Label: Pseudo-Zellweger syndrome + 'Pseudo-Zellweger syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_2998 Label: Carnevale syndrome + 'Carnevale syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_101151 Label: Dystonia 14 + 'Dystonia 14' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_99694 Label: Alveolar synechia - ankyloblepharon - ectodermal dysplasia + 'Alveolar synechia - ankyloblepharon - ectodermal dysplasia' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_101107 Label: Spinocerebellar ataxia type 22 + 'Spinocerebellar ataxia type 22' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_431 Label: Ichthyosis - male hypogonadism + 'Ichthyosis - male hypogonadism' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_453 Label: IBIDS syndrome + 'IBIDS syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_163673 Label: Spondyloepiphyseal dysplasia, Byers type + 'Spondyloepiphyseal dysplasia, Byers type' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_496 Label: Thost-Unna palmoplantar keratoderma + 'Thost-Unna palmoplantar keratoderma' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_399086 Label: Finnish upper limb-onset distal myopathy + 'Finnish upper limb-onset distal myopathy' SubClassOf 'part_of' some 'Autosomal dominant distal myopathy' + 'Finnish upper limb-onset distal myopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_399081 Label: KLHL9-related childhood-onset distal myopathy + 'KLHL9-related childhood-onset distal myopathy' SubClassOf 'part_of' some 'Autosomal dominant distal myopathy' + 'KLHL9-related childhood-onset distal myopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_399096 Label: Distal anoctaminopathy + 'Distal anoctaminopathy' SubClassOf 'part_of' some 'Autosomal recessive distal myopathy' + 'Distal anoctaminopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_399058 Label: Alpha-B crystallin-related late-onset distal myopathy + 'Alpha-B crystallin-related late-onset distal myopathy' SubClassOf 'Alpha-crystallinopathy' + 'Alpha-B crystallin-related late-onset distal myopathy' SubClassOf 'part_of' some 'Autosomal dominant distal myopathy' + 'Alpha-B crystallin-related late-onset distal myopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_88636 Label: Aortic dilatation - joint hypermobility - arterial tortuosity + 'Aortic dilatation - joint hypermobility - arterial tortuosity' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_399103 Label: Nebulin-related early-onset distal myopathy + 'Nebulin-related early-onset distal myopathy' SubClassOf 'disease' + 'Nebulin-related early-onset distal myopathy' SubClassOf 'part_of' some 'Autosomal recessive distal myopathy' Class: http://www.orpha.net/ORDO/Orphanet_52428 Label: Congenital muscular dystrophy type 1C + 'Congenital muscular dystrophy type 1C' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_137862 Label: Mart�nez-Fr�as syndrome + 'Mart�nez-Fr�as syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_98333 Label: Male infertility with normal virilization due to developmental or structural testicular defect associated with cryptorchidism + 'Male infertility with normal virilization due to developmental or structural testicular defect associated with cryptorchidism' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_98332 Label: Male infertility with normal virilization due to developmental or structural testicular defect + 'Male infertility with normal virilization due to developmental or structural testicular defect' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_98331 Label: Male infertility with normal virilization due to a testicular defect + 'Male infertility with normal virilization due to a testicular defect' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_98330 Label: Male infertility with normal virilization due to androgen administration + 'Male infertility with normal virilization due to androgen administration' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_98337 Label: Male infertility with normal virilization due to acquired testicular defect associated with radiation + 'Male infertility with normal virilization due to acquired testicular defect associated with radiation' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_98335 Label: Male infertility with normal virilization due to acquired testicular defect + 'Male infertility with normal virilization due to acquired testicular defect' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_98334 Label: Male infertility with normal virilization due to a developmental or structural testicular defect associated with varicocele + 'Male infertility with normal virilization due to a developmental or structural testicular defect associated with varicocele' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_98329 Label: Male infertility with normal virilization due to a hypothalamic or pituitary defect + 'Male infertility with normal virilization due to a hypothalamic or pituitary defect' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_98327 Label: Male infertility with impaired virilization due to a testicular disorder associated with a neurologic disease + 'Male infertility with impaired virilization due to a testicular disorder associated with a neurologic disease' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_98328 Label: Male infertility with normal virilization + 'Male infertility with normal virilization' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_98320 Label: Male infertility with impaired virilization due to an acquired testicular defect associated with a granulomatous disease + 'Male infertility with impaired virilization due to an acquired testicular defect associated with a granulomatous disease' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_98322 Label: Male infertility with impaired virilization due to a testicular disorder associated with renal failure + 'Male infertility with impaired virilization due to a testicular disorder associated with renal failure' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_98321 Label: Male infertility with impaired virilization due to a testicular disorder associated with a systemic disease + 'Male infertility with impaired virilization due to a testicular disorder associated with a systemic disease' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_98324 Label: Male infertility with impaired virilization due to a testicular disorder associated with a chronic illness + 'Male infertility with impaired virilization due to a testicular disorder associated with a chronic illness' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_98323 Label: Male infertility with impaired virilization due to a testicular disorder associated with a hepatic disease + 'Male infertility with impaired virilization due to a testicular disorder associated with a hepatic disease' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_98326 Label: Male infertility with impaired virilization due to a testicular disorder associated with an immune disorder + 'Male infertility with impaired virilization due to a testicular disorder associated with an immune disorder' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_98325 Label: Male infertility with impaired virilization due to a testicular disorder associated with thyrotoxicosis + 'Male infertility with impaired virilization due to a testicular disorder associated with thyrotoxicosis' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_98316 Label: Male infertility with impaired virilization due to an acquired testicular defect associated with trauma + 'Male infertility with impaired virilization due to an acquired testicular defect associated with trauma' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_98317 Label: Male infertility with impaired virilization due to an acquired testicular defect drug-related + 'Male infertility with impaired virilization due to an acquired testicular defect drug-related' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_98318 Label: Male infertility with impaired virilization due to an acquired testicular defect associated with an environmental toxin + 'Male infertility with impaired virilization due to an acquired testicular defect associated with an environmental toxin' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_98319 Label: Male infertility with impaired virilization due to an acquired testicular defect associated with autoimmunity + 'Male infertility with impaired virilization due to an acquired testicular defect associated with autoimmunity' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_98315 Label: Male infertility with impaired virilization due to a viral orchitis + 'Male infertility with impaired virilization due to a viral orchitis' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_98314 Label: Male infertility with impaired virilization due to an acquired testicular defect + 'Male infertility with impaired virilization due to an acquired testicular defect' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_98313 Label: Male infertility due to gonadal dysgenesis + 'Male infertility due to gonadal dysgenesis' SubClassOf 'group of disorders' + 'Male infertility due to gonadal dysgenesis' SubClassOf 'Male infertility due to gonadal dysgenesis or sperm disorder' Class: http://www.orpha.net/ORDO/Orphanet_98312 Label: Male infertility with impaired virilization due to a testicular disorder + 'Male infertility with impaired virilization due to a testicular disorder' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_98311 Label: Male infertility with impaired virilization due to a hypothalamic and pituitary disorder associated with hyperprolactinemia + 'Male infertility with impaired virilization due to a hypothalamic and pituitary disorder associated with hyperprolactinemia' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_98310 Label: Male infertility with impaired virilization due to an hypothalamic or pituitary disorder + 'Male infertility with impaired virilization due to an hypothalamic or pituitary disorder' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_98309 Label: Male infertility with impaired virilization + 'Male infertility with impaired virilization' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_399175 Label: Traumatic avascular necrosis + 'Traumatic avascular necrosis' SubClassOf 'disease' + 'Traumatic avascular necrosis' SubClassOf 'part_of' some 'Secondary avascular necrosis' Class: http://www.orpha.net/ORDO/Orphanet_399185 Label: Rare hereditary disease with avascular necrosis + 'Rare hereditary disease with avascular necrosis' SubClassOf 'group of disorders' + 'Rare hereditary disease with avascular necrosis' SubClassOf 'Secondary avascular necrosis' + 'Rare hereditary disease with avascular necrosis' SubClassOf 'Avascular necrosis of genetic origin' Class: http://www.orpha.net/ORDO/Orphanet_399180 Label: Secondary non-traumatic avascular necrosis + 'Secondary non-traumatic avascular necrosis' SubClassOf 'disease' + 'Secondary non-traumatic avascular necrosis' SubClassOf 'part_of' some 'Secondary avascular necrosis' Class: http://www.orpha.net/ORDO/Orphanet_399158 Label: Osteonecrosis + 'Osteonecrosis' SubClassOf 'Rare bone disease' + 'Osteonecrosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98340 Label: Male infertility with normal virilization due to acquired testicular defect associated with autoimmunity + 'Male infertility with normal virilization due to acquired testicular defect associated with autoimmunity' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_399164 Label: Avascular necrosis + 'Avascular necrosis' SubClassOf 'Osteonecrosis' + 'Avascular necrosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_98341 Label: Male infertility with normal virilization due to a systemic disease + 'Male infertility with normal virilization due to a systemic disease' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_98342 Label: Male infertility with normal virilization due to testicular defect associated with spinal cord injury + 'Male infertility with normal virilization due to testicular defect associated with spinal cord injury' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_98343 Label: Male infertility due to obstructive azoospermia + 'Male infertility due to obstructive azoospermia' SubClassOf 'Rare male infertility' + 'Male infertility due to obstructive azoospermia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_399169 Label: Secondary avascular necrosis + 'Secondary avascular necrosis' SubClassOf 'group of disorders' + 'Secondary avascular necrosis' SubClassOf 'Avascular necrosis' Class: http://www.orpha.net/ORDO/Orphanet_98339 Label: Male infertility with normal virilization due to acquired testicular defect associated with environmental toxin + 'Male infertility with normal virilization due to acquired testicular defect associated with environmental toxin' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_98338 Label: Male infertility with normal virilization due to acquired testicular defect associated with drug + 'Male infertility with normal virilization due to acquired testicular defect associated with drug' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_97295 Label: Furlong syndrome + 'Furlong syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_623 Label: NAME syndrome + 'NAME syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_670 Label: PIBIDS syndrome + 'PIBIDS syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_680 Label: Normokalemic periodic paralysis + 'Normokalemic periodic paralysis' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_3349 Label: Treft-Sanborn-Carey syndrome + 'Treft-Sanborn-Carey syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_3333 Label: Connective tissue dysplasia, Spellacy type + 'Connective tissue dysplasia, Spellacy type' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_398971 Label: Clear cell adenocarcinoma of ovary + 'Clear cell adenocarcinoma of ovary' SubClassOf 'disease' + 'Clear cell adenocarcinoma of ovary' SubClassOf 'part_of' some 'Malignant epithelial tumor of ovary' Class: http://www.orpha.net/ORDO/Orphanet_398961 Label: Mucinous adenocarcinoma of ovary + 'Mucinous adenocarcinoma of ovary' SubClassOf 'part_of' some 'Malignant epithelial tumor of ovary' + 'Mucinous adenocarcinoma of ovary' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1831 Label: De Hauwere syndrome + 'De Hauwere syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_79482 Label: Cutis verticis gyrata - thyroid aplasia - intellectual disability + 'Cutis verticis gyrata - thyroid aplasia - intellectual disability' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1838 Label: Metaphyseal dysplasia without hypotrichosis + 'Metaphyseal dysplasia without hypotrichosis' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_398940 Label: Malignant non-epithelial tumor of ovary + 'Malignant non-epithelial tumor of ovary' SubClassOf 'group of disorders' + 'Malignant non-epithelial tumor of ovary' SubClassOf 'Rare ovarian cancer' Class: http://www.orpha.net/ORDO/Orphanet_398934 Label: Malignant epithelial tumor of ovary + 'Malignant epithelial tumor of ovary' SubClassOf 'Rare ovarian cancer' + 'Malignant epithelial tumor of ovary' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_398980 Label: Primary peritoneal serous/papillary carcinoma + 'Primary peritoneal serous/papillary carcinoma' SubClassOf 'disease' + 'Primary peritoneal serous/papillary carcinoma' SubClassOf 'part_of' some 'Malignant epithelial tumor of ovary' Class: http://www.orpha.net/ORDO/Orphanet_398987 Label: Malignant teratoma of ovary + 'Malignant teratoma of ovary' SubClassOf 'part_of' some 'Malignant non-epithelial tumor of ovary' + 'Malignant teratoma of ovary' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_1889 Label: Ectrodactyly - cleft palate + 'Ectrodactyly - cleft palate' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1888 Label: Ectrodactyly - ectodermal dysplasia without clefting + 'Ectrodactyly - ectodermal dysplasia without clefting' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_3274 Label: Granulomatous arthritis of childhood + 'Granulomatous arthritis of childhood' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_3271 Label: Radio-ulnar synostosis - retinal pigment abnormalities + 'Radio-ulnar synostosis - retinal pigment abnormalities' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_3213 Label: Deafness - opticoacoustic nerve atrophy - dementia + 'Deafness - opticoacoustic nerve atrophy - dementia' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_139477 Label: Al-Gazali-Dattani syndrome + 'Al-Gazali-Dattani syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1981 Label: Fanconi syndrome - ichthyosis - dysmorphism + 'Fanconi syndrome - ichthyosis - dysmorphism' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_3123 Label: Brittle hair syndrome, Sabinas type + 'Brittle hair syndrome, Sabinas type' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_83618 Label: Severe dilated cardiomyopathy due to lamin A/C mutation + 'Severe dilated cardiomyopathy due to lamin A/C mutation' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_3106 Label: Robinow-Sorauf syndrome + 'Robinow-Sorauf syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_3112 Label: Patella aplasia - coxa vara - tarsal synostosis + 'Patella aplasia - coxa vara - tarsal synostosis' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_156723 Label: Piepkorn dysplasia + 'Piepkorn dysplasia' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_100642 Label: Gonorrhea + 'Gonorrhea' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_79289 Label: Niemann-Pick disease type D + 'Niemann-Pick disease type D' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_99777 Label: Achalasia-alacrimia syndrome + 'Achalasia-alacrimia syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_79260 Label: Glycogen storage disease type 1C + 'Glycogen storage disease type 1C' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_79261 Label: Glycogen storage disease type 1D + 'Glycogen storage disease type 1D' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1611 Label: Deletion 20p + 'Deletion 20p' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_99715 Label: MASS syndrome + 'MASS syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_995 Label: X-linked fetal akinesia syndrome + 'X-linked fetal akinesia syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1674 Label: Digitorenocerebral syndrome + 'Digitorenocerebral syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1678 Label: Dincsoy-Salih-Patel syndrome + 'Dincsoy-Salih-Patel syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_3084 Label: Mirhosseini-Holmes-Walton syndrome + 'Mirhosseini-Holmes-Walton syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_918 Label: ABCD syndrome + 'ABCD syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_3065 Label: intellectual disability, X-linked - monoamine oxidase A metabolism anomaly + 'intellectual disability, X-linked - monoamine oxidase A metabolism anomaly' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_964 Label: Acromegaly - cutis verticis gyrata - corneal leukoma + 'Acromegaly - cutis verticis gyrata - corneal leukoma' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_3022 Label: Rapp-Hodgkin syndrome + 'Rapp-Hodgkin syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_936 Label: Succinic acidemia + 'Succinic acidemia' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_3013 Label: Radiculomegaly of canine teeth- congenital cataract + 'Radiculomegaly of canine teeth- congenital cataract' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_98788 Label: Pitt-Rogers-Danks syndrome + 'Pitt-Rogers-Danks syndrome' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_79446 Label: Multiple pterygium syndrome, Aslan type + 'Multiple pterygium syndrome, Aslan type' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_79407 Label: Autosomal dominant dystrophic epidermolysis bullosa, Cockayne-Touraine type + 'Autosomal dominant dystrophic epidermolysis bullosa, Cockayne-Touraine type' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_1792 Label: Humerospinal dysostosis + 'Humerospinal dysostosis' SubClassOf 'obsolete_class' Class: http://www.orpha.net/ORDO/Orphanet_98770 Label: Spinocerebellar ataxia type 16 + 'Spinocerebellar ataxia type 16' SubClassOf 'obsolete_class' 3. Deleted Classes: Class: http://www.orpha.net/ORDO/Orphanet_304764 Label: spermatogenesis and oogenesis specific basic helix-loop-helix 1 + 'spermatogenesis and oogenesis specific basic helix-loop-helix 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Male infertility with normal virilization due to meiosis defect' + 'spermatogenesis and oogenesis specific basic helix-loop-helix 1' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_352613 Label: Male infertility due to NANOS1 mutation + 'Male infertility due to NANOS1 mutation' SubClassOf 'part_of' some 'Rare male infertility' + 'Male infertility due to NANOS1 mutation' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Male infertility due to NANOS1 mutation' SubClassOf 'has_AgeOfOnset' some 'Adulthood' + 'Male infertility due to NANOS1 mutation' SubClassOf 'has_prevalence' some '1 / 1 000 000' + 'Male infertility due to NANOS1 mutation' SubClassOf 'part_of' some 'Rare genetic urogenital disease' + 'Male infertility due to NANOS1 mutation' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_217034 Label: Male infertility with normal virilization due to meiosis defect + 'Male infertility with normal virilization due to meiosis defect' SubClassOf 'has_inheritance' some 'autosomal dominant' + 'Male infertility with normal virilization due to meiosis defect' SubClassOf 'has_AgeOfOnset' some 'Adolescence / Young adulthood' + 'Male infertility with normal virilization due to meiosis defect' SubClassOf 'disease' + 'Male infertility with normal virilization due to meiosis defect' SubClassOf 'part_of' some 'Rare genetic urogenital disease' + 'Male infertility with normal virilization due to meiosis defect' SubClassOf 'has_inheritance' some 'autosomal recessive' + 'Male infertility with normal virilization due to meiosis defect' SubClassOf 'part_of' some 'Rare male infertility' Class: http://www.orpha.net/ORDO/Orphanet_356158 Label: nanos homolog 1 (Drosophila) + 'nanos homolog 1 (Drosophila)' SubClassOf 'gene' + 'nanos homolog 1 (Drosophila)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Male infertility due to NANOS1 mutation' Class: http://www.orpha.net/ORDO/Orphanet_325681 Label: spastic paraplegia 45 (autosomal recessive) + 'spastic paraplegia 45 (autosomal recessive)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive spastic paraplegia type 45' + 'spastic paraplegia 45 (autosomal recessive)' SubClassOf 'gene' Class: http://www.orpha.net/ORDO/Orphanet_220903 Label: synaptonemal complex protein 3 + 'synaptonemal complex protein 3' SubClassOf 'gene' + 'synaptonemal complex protein 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Male infertility with normal virilization due to meiosis defect' Class: http://www.orpha.net/ORDO/Orphanet_121563 Label: erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) + 'erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Homozygous hereditary elliptocytosis' + 'erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)' SubClassOf 'gene' + 'erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Common hereditary elliptocytosis'