843 31 13 http://www.orpha.net/ORDO/Orphanet_397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome 'Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' http://www.orpha.net/ORDO/Orphanet_309144 Gangliosidosis 'Gangliosidosis' SubClassOf 'sphingolipidosis with epilepsy' 'Gangliosidosis' SubClassOf 'lysosomal disease with epilepsy' 'Gangliosidosis' SubClassOf 'Sphingolipidosis' http://www.ebi.ac.uk/efo/EFO_0000400 diabetes mellitus 'diabetes mellitus' SubClassOf 'realized_in' some ('disease course' and ('has_part' some 'metabolic process')) 'diabetes mellitus' SubClassOf http://purl.obolibrary.org/obo/BFO_0000054 some ('disease course' and ('has_part' some 'metabolic process')) http://www.orpha.net/ORDO/Orphanet_94125 Recessive mitochondrial ataxia syndrome 'Recessive mitochondrial ataxia syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_251290 Parietal foramina with cleidocranial dysplasia 'Parietal foramina with cleidocranial dysplasia' SubClassOf 'Cleidocranial dysplasia and isolated cranial ossification defect' 'Parietal foramina with cleidocranial dysplasia' SubClassOf 'Cleidocranial dysplasia and isolated cranial ossification defect' 'Parietal foramina with cleidocranial dysplasia' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_1389 Cortical blindness - intellectual disability - polydactyly 'Cortical blindness - intellectual disability - polydactyly' SubClassOf 'Nervous system anomaly with eye involvement' 'Cortical blindness - intellectual disability - polydactyly' SubClassOf 'Genetic neuro-ophthalmological disease' http://www.orpha.net/ORDO/Orphanet_1394 Cerebro-facio-thoracic dysplasia 'Cerebro-facio-thoracic dysplasia' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'Cerebro-facio-thoracic dysplasia' SubClassOf 'Dysostosis of genetic origin' 'Cerebro-facio-thoracic dysplasia' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' http://www.orpha.net/ORDO/Orphanet_1393 Cerebro-costo-mandibular syndrome 'Cerebro-costo-mandibular syndrome' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'Cerebro-costo-mandibular syndrome' SubClassOf 'Dysostosis of genetic origin' 'Cerebro-costo-mandibular syndrome' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' http://www.orpha.net/ORDO/Orphanet_1399 Richards-Rundle syndrome 'Richards-Rundle syndrome' SubClassOf 'Genetic neurodegenerative disease' 'Richards-Rundle syndrome' SubClassOf 'Rare genetic movement disorder' 'Richards-Rundle syndrome' SubClassOf 'Rare genetic tremor disorder' http://www.orpha.net/ORDO/Orphanet_179494 Obesity due to leptin receptor gene deficiency 'Obesity due to leptin receptor gene deficiency' SubClassOf 'Hypogonadotropic hypogonadism associated with other endocrinopathies' 'Obesity due to leptin receptor gene deficiency' SubClassOf 'Hypogonadotropic hypogonadism associated with other endocrinopathies' http://www.orpha.net/ORDO/Orphanet_1368 Cataract - ataxia - deafness 'Cataract - ataxia - deafness' SubClassOf 'Rare genetic tremor disorder' 'Cataract - ataxia - deafness' SubClassOf 'Rare genetic movement disorder' 'Cataract - ataxia - deafness' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_1318 Campomelia, Cumming type 'Campomelia, Cumming type' SubClassOf 'primary lymphedema with associated anomalies' http://www.ebi.ac.uk/efo/EFO_0002919 uterine carcinoma 'uterine carcinoma' SubClassOf 'uterine neoplasm' http://www.ebi.ac.uk/efo/EFO_0002941 transcription profiling by SAGE 'transcription profiling by SAGE' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'messenger RNA')) 'transcription profiling by SAGE' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'messenger RNA')) http://www.ebi.ac.uk/efo/EFO_0002942 transcription profiling by MPSS 'transcription profiling by MPSS' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'messenger RNA')) 'transcription profiling by MPSS' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'messenger RNA')) http://www.orpha.net/ORDO/Orphanet_1185 Spinocerebellar ataxia - dysmorphism 'Spinocerebellar ataxia - dysmorphism' SubClassOf 'Genetic neurodegenerative disease' 'Spinocerebellar ataxia - dysmorphism' SubClassOf 'Rare genetic tremor disorder' 'Spinocerebellar ataxia - dysmorphism' SubClassOf 'Rare genetic movement disorder' http://www.orpha.net/ORDO/Orphanet_1186 Infantile onset spinocerebellar ataxia 'Infantile onset spinocerebellar ataxia' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1180 Ataxia - hypogonadism - choroidal dystrophy 'Ataxia - hypogonadism - choroidal dystrophy' SubClassOf 'Rare genetic movement disorder' 'Ataxia - hypogonadism - choroidal dystrophy' SubClassOf 'Genetic neurodegenerative disease' 'Ataxia - hypogonadism - choroidal dystrophy' SubClassOf 'Rare genetic tremor disorder' http://www.orpha.net/ORDO/Orphanet_69088 Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema 'Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema' SubClassOf 'primary lymphedema with associated anomalies' http://www.ebi.ac.uk/efo/EFO_0000253 amyotrophic lateral sclerosis 'amyotrophic lateral sclerosis' SubClassOf 'realized_in' some ('disease course' and ('has_part' some 'Neurodegeneration')) 'amyotrophic lateral sclerosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000054 some ('disease course' and ('has_part' some 'Neurodegeneration')) http://www.ebi.ac.uk/efo/EFO_0000249 Alzheimer's disease 'Alzheimer's disease' SubClassOf 'realized_in' some ('disease course' and ('has_part' some 'microtubule-associated protein tau')) 'Alzheimer's disease' SubClassOf 'realized_in' some ('disease course' and ('has_part' some 'Neurodegeneration')) 'Alzheimer's disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000054 some ('disease course' and ('has_part' some 'Neurodegeneration')) 'Alzheimer's disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000054 some ('disease course' and ('has_part' some 'microtubule-associated protein tau')) http://www.orpha.net/ORDO/Orphanet_94089 Pseudohypoparathyroidism type 1B 'Pseudohypoparathyroidism type 1B' SubClassOf 'pseudohypoparathyroidism without Albright hereditary osteodystrophy' 'Pseudohypoparathyroidism type 1B' SubClassOf 'Pseudohypoparathyroidism' http://www.orpha.net/ORDO/Orphanet_94090 Pseudohypoparathyroidism type 2 'Pseudohypoparathyroidism type 2' SubClassOf 'pseudohypoparathyroidism without Albright hereditary osteodystrophy' 'Pseudohypoparathyroidism type 2' SubClassOf 'Pseudohypoparathyroidism' http://www.orpha.net/ORDO/Orphanet_94095 Spondylocostal dysostosis - anal and genitourinary malformations 'Spondylocostal dysostosis - anal and genitourinary malformations' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'Spondylocostal dysostosis - anal and genitourinary malformations' SubClassOf 'Dysostosis of genetic origin' 'Spondylocostal dysostosis - anal and genitourinary malformations' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' http://www.orpha.net/ORDO/Orphanet_309347 Disorder of protein N-glycosylation 'Disorder of protein N-glycosylation' SubClassOf 'realized_in' some ('disease course' and ('has_part' some 'glycosylation')) 'Disorder of protein N-glycosylation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000054 some ('disease course' and ('has_part' some 'glycosylation')) http://www.ebi.ac.uk/efo/EFO_0000616 neoplasm 'neoplasm' SubClassOf 'realized_in' some ('disease course' and ('has_part' some 'cell population proliferation')) 'neoplasm' SubClassOf http://purl.obolibrary.org/obo/BFO_0000054 some ('disease course' and ('has_part' some 'cell population proliferation')) http://www.orpha.net/ORDO/Orphanet_300547 Autosomal recessive infantile hypercalcemia 'Autosomal recessive infantile hypercalcemia' SubClassOf 'realized_in' some ('disease course' and (('has_part' some 'calcium ion homeostasis') and ('bearer_of' some 'abnormal'))) 'Autosomal recessive infantile hypercalcemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000054 some ('disease course' and (('has_part' some 'calcium ion homeostasis') and ('bearer_of' some 'abnormal'))) http://www.ebi.ac.uk/efo/EFO_0010015 SCTG 'SCTG' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'SCTG' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'SCTG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) 'SCTG' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0010016 HiRes-Seq 'HiRes-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'HiRes-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0010014 Omni-ATAC 'Omni-ATAC' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'Omni-ATAC' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0010011 HiChIP 'HiChIP' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'HiChIP' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0010019 m6A-LAIC-seq 'm6A-LAIC-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'm6A-LAIC-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0010004 SCRB-seq 'SCRB-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'SCRB-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0010005 DR-Seq 'DR-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'DR-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'DR-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) 'DR-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0010002 RRMAB-seq 'RRMAB-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'RRMAB-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0010003 RASL-seq 'RASL-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'RASL-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0010000 JBP1-seq 'JBP1-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'JBP1-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0010001 MAB-seq 'MAB-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'MAB-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0010008 irCLIP 'irCLIP' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'irCLIP' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0010006 scM&T-seq 'scM&T-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'scM&T-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'scM&T-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) 'scM&T-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0010007 scTrio-seq 'scTrio-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'scTrio-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'scTrio-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) 'scTrio-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0010037 INTACT 'INTACT' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'INTACT' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0010038 Mu-Seq 'Mu-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'Mu-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0010035 Frac-Seq 'Frac-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'Frac-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0010036 HITS-KIN 'HITS-KIN' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'HITS-KIN' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0010034 Cappable-Seq 'Cappable-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'Cappable-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0010030 CRISPR-UMI 'CRISPR-UMI' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'CRISPR-UMI' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0010039 mutARS-Seq 'mutARS-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'mutARS-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0010026 RESA?CLIP 'RESA?CLIP' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'RESA?CLIP' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0010027 RESA 'RESA' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'RESA' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0010024 AGO-PAR-CLIP 'AGO-PAR-CLIP' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'AGO-PAR-CLIP' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0010025 PASP 'PASP' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'PASP' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0010022 Smart-3Seq 'Smart-3Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'Smart-3Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0010023 PELE-Seq 'PELE-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'PELE-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0010020 AGO HITS-CLIP 'AGO HITS-CLIP' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'AGO HITS-CLIP' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0010021 miniARS-seq 'miniARS-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'miniARS-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0010028 STAP-seq 'STAP-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'STAP-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0010029 SPLASH 'SPLASH' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'SPLASH' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://purl.obolibrary.org/obo/MONDO_0021353 tumor of uterus 'tumor of uterus' SubClassOf 'female reproductive system neoplasm' 'tumor of uterus' SubClassOf 'uterine disease' http://www.orpha.net/ORDO/Orphanet_1552 Currarino triad 'Currarino triad' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'Currarino triad' SubClassOf 'Dysostosis of genetic origin' 'Currarino triad' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' http://www.orpha.net/ORDO/Orphanet_1563 Dahlberg-Borer-Newcomer syndrome 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'primary lymphedema with associated anomalies' http://www.orpha.net/ORDO/Orphanet_1517 Hypertrichotic osteochondrodysplasia, Cantu type 'Hypertrichotic osteochondrodysplasia, Cantu type' SubClassOf 'Dysostosis with predominant craniofacial involvement' 'Hypertrichotic osteochondrodysplasia, Cantu type' SubClassOf 'Dysostosis with predominant craniofacial involvement' 'Hypertrichotic osteochondrodysplasia, Cantu type' SubClassOf 'Dysostosis of genetic origin' http://www.orpha.net/ORDO/Orphanet_397623 Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome 'Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf 'pinnae and external auditory canal anomaly' 'Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf 'genetic otorhinolaryngological malformation' 'Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf 'Rare otorhinolaryngological malformation' http://www.ebi.ac.uk/efo/EFO_0000589 metabolic disease 'metabolic disease' EquivalentTo 'disease' and ('realized_in' some ('disease course' and ('has_part' some 'metabolic process'))) 'metabolic disease' SubClassOf 'disease' and ('realized_in' some ('disease course' and ('has_part' some 'metabolic process'))) 'metabolic disease' SubClassOf 'disease' and (http://purl.obolibrary.org/obo/BFO_0000054 some ('disease course' and ('has_part' some 'metabolic process'))) 'metabolic disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/BFO_0000054 some ('disease course' and ('has_part' some 'metabolic process'))) http://www.orpha.net/ORDO/Orphanet_1471 Coloboma of macula - brachydactyly type B 'Coloboma of macula - brachydactyly type B' SubClassOf 'Colobomatous and areolar dystrophy' 'Coloboma of macula - brachydactyly type B' SubClassOf 'Genetic macular dystrophy' 'Coloboma of macula - brachydactyly type B' SubClassOf 'Colobomatous and areolar dystrophy' http://purl.obolibrary.org/obo/MONDO_0021218 placenta neoplasm 'placenta neoplasm' SubClassOf 'tumor of uterus' 'placenta neoplasm' SubClassOf 'uterine neoplasm' http://www.orpha.net/ORDO/Orphanet_1480 Ventricular septal defect 'Ventricular septal defect' SubClassOf 'heart septal defect' http://purl.obolibrary.org/obo/MONDO_0021230 uterine cervix neoplasm 'uterine cervix neoplasm' SubClassOf 'tumor of uterus' 'uterine cervix neoplasm' SubClassOf 'uterine neoplasm' http://www.orpha.net/ORDO/Orphanet_1496 Corpus callosum agenesis - neuronopathy 'Corpus callosum agenesis - neuronopathy' SubClassOf 'Spinal muscular atrophy associated with central nervous system anomaly' 'Corpus callosum agenesis - neuronopathy' SubClassOf 'Spinal muscular atrophy associated with central nervous system anomaly' 'Corpus callosum agenesis - neuronopathy' SubClassOf 'Bulbospinal muscular atrophy' http://purl.obolibrary.org/obo/MONDO_0021239 urethra neoplasm 'urethra neoplasm' SubClassOf 'urethral disease' 'urethra neoplasm' SubClassOf 'urinary system neoplasm' http://purl.obolibrary.org/obo/MONDO_0021251 endometrium neoplasm 'endometrium neoplasm' SubClassOf 'tumor of uterus' 'endometrium neoplasm' SubClassOf 'uterine neoplasm' http://purl.obolibrary.org/obo/MONDO_0021254 corpus uteri neoplasm 'corpus uteri neoplasm' SubClassOf 'tumor of uterus' 'corpus uteri neoplasm' SubClassOf 'uterine neoplasm' http://www.orpha.net/ORDO/Orphanet_1452 Cleidocranial dysplasia 'Cleidocranial dysplasia' SubClassOf 'Cleidocranial dysplasia and isolated cranial ossification defect' 'Cleidocranial dysplasia' SubClassOf 'Primary bone dysplasia' 'Cleidocranial dysplasia' SubClassOf 'Cleidocranial dysplasia and isolated cranial ossification defect' http://www.orpha.net/ORDO/Orphanet_1454 Joubert syndrome with hepatic defect 'Joubert syndrome with hepatic defect' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' http://www.orpha.net/ORDO/Orphanet_1414 Cholestasis-lymphedema syndrome 'Cholestasis-lymphedema syndrome' SubClassOf 'primary lymphedema with associated anomalies' 'Cholestasis-lymphedema syndrome' SubClassOf 'Primary lymphedema' http://www.orpha.net/ORDO/Orphanet_98907 Dorfman-Chanarin disease 'Dorfman-Chanarin disease' SubClassOf 'Syndromic ichthyosis associated with ocular features' 'Dorfman-Chanarin disease' SubClassOf 'Syndromic ichthyosis associated with ocular features' http://www.orpha.net/ORDO/Orphanet_86915 Lymphedema - atrial septal defects - facial changes 'Lymphedema - atrial septal defects - facial changes' SubClassOf 'primary lymphedema with associated anomalies' 'Lymphedema - atrial septal defects - facial changes' SubClassOf 'Primary lymphedema' http://www.orpha.net/ORDO/Orphanet_98945 Coloboma of macula 'Coloboma of macula' SubClassOf 'Colobomatous and areolar dystrophy' 'Coloboma of macula' SubClassOf 'Colobomatous and areolar dystrophy' 'Coloboma of macula' SubClassOf 'Genetic macular dystrophy' http://www.ebi.ac.uk/efo/EFO_0009294 CITE-seq 'CITE-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'CITE-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.orpha.net/ORDO/Orphanet_98973 Posterior polymorphous corneal dystrophy 'Posterior polymorphous corneal dystrophy' SubClassOf 'Secondary glaucoma due to a proliferation and differentiation anomaly' 'Posterior polymorphous corneal dystrophy' SubClassOf 'Secondary glaucoma due to a proliferation and differentiation anomaly' 'Posterior polymorphous corneal dystrophy' SubClassOf 'Secondary dysgenetic glaucoma' http://www.ebi.ac.uk/efo/EFO_0009283 potassium measurement 'potassium measurement' SubClassOf 'is_about' some 'potassium' 'potassium measurement' SubClassOf 'measurement' 'potassium measurement' EquivalentTo 'measurement' and ('is_about' some 'potassium') 'potassium measurement' SubClassOf 'measurement' http://purl.obolibrary.org/obo/HP_0002140 Ischemic stroke 'Ischemic stroke' SubClassOf 'Abnormality of the cerebral vasculature' http://www.ebi.ac.uk/efo/EFO_0000731 uterine fibroid 'uterine fibroid' SubClassOf 'uterine neoplasm' http://www.orpha.net/ORDO/Orphanet_307055 Rare parkinsonian syndrome due to genetic neurodegenerative disease 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' SubClassOf 'realized_in' some ('disease course' and ('has_part' some 'Neurodegeneration')) 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000054 some ('disease course' and ('has_part' some 'Neurodegeneration')) http://www.ebi.ac.uk/efo/EFO_0000750 genotyping 'genotyping' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'genotyping' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0000751 methylation profiling 'methylation profiling' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'methylation profiling' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0000753 microRNA profiling by array 'microRNA profiling by array' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'microRNA profiling by array' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.orpha.net/ORDO/Orphanet_307058 Miscellaneous movement disorder due to genetic neurodegenerative disease 'Miscellaneous movement disorder due to genetic neurodegenerative disease' SubClassOf 'realized_in' some ('disease course' and ('has_part' some 'Neurodegeneration')) 'Miscellaneous movement disorder due to genetic neurodegenerative disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000054 some ('disease course' and ('has_part' some 'Neurodegeneration')) http://www.ebi.ac.uk/efo/EFO_0000746 proteomic profiling 'proteomic profiling' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'protein')) 'proteomic profiling' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'protein')) http://www.ebi.ac.uk/efo/EFO_0000747 antigen profiling 'antigen profiling' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'protein')) 'antigen profiling' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'protein')) http://www.ebi.ac.uk/efo/EFO_0000748 ChIP-Chip 'ChIP-Chip' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'ChIP-Chip' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0000749 comparative genomic hybridization by array 'comparative genomic hybridization by array' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'comparative genomic hybridization by array' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.orpha.net/ORDO/Orphanet_3366 Isolated trigonocephaly 'Isolated trigonocephaly' SubClassOf 'Craniostenosis associated with a strabismus' 'Isolated trigonocephaly' SubClassOf 'Syndrome with a symptomatic strabismus' 'Isolated trigonocephaly' SubClassOf 'Craniostenosis associated with a strabismus' http://www.orpha.net/ORDO/Orphanet_3389 Tuberculosis http://purl.obolibrary.org/obo/MONDO_0018469 DisjointWith 'Tuberculosis' http://www.ebi.ac.uk/efo/EFO_0010046 TAm-Seq 'TAm-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'TAm-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0010044 STARR-Seq 'STARR-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'STARR-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0010045 Start-seq 'Start-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'Start-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0010042 Ren-Seq 'Ren-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'Ren-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0010043 Stable-Seq 'Stable-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'Stable-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0010040 Nano-hmC-Seal 'Nano-hmC-Seal' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'Nano-hmC-Seal' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0010041 Nascent-Seq 'Nascent-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'Nascent-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.orpha.net/ORDO/Orphanet_3456 Wildervanck syndrome 'Wildervanck syndrome' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'Wildervanck syndrome' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'Wildervanck syndrome' SubClassOf 'Dysostosis of genetic origin' http://www.orpha.net/ORDO/Orphanet_263508 COG1-CDG 'COG1-CDG' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'COG1-CDG' SubClassOf 'Dysostosis of genetic origin' 'COG1-CDG' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' http://www.orpha.net/ORDO/Orphanet_3472 Yunis-Varon syndrome 'Yunis-Varon syndrome' SubClassOf 'Cleidocranial dysplasia and isolated cranial ossification defect' 'Yunis-Varon syndrome' SubClassOf 'Cleidocranial dysplasia and isolated cranial ossification defect' 'Yunis-Varon syndrome' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_3426 Double outlet right ventricle 'Double outlet right ventricle' SubClassOf 'ventricular septal defect (disease)' 'Double outlet right ventricle' SubClassOf 'Ventricular septal defect' http://www.orpha.net/ORDO/Orphanet_96263 48,XXXY syndrome '48,XXXY syndrome' SubClassOf 'X chromosome number anomaly with male phenotype' '48,XXXY syndrome' SubClassOf 'X chromosome number anomaly' '48,XXXY syndrome' SubClassOf 'X chromosome number anomaly with male phenotype' http://www.orpha.net/ORDO/Orphanet_96264 49,XXXXY syndrome '49,XXXXY syndrome' SubClassOf 'X chromosome number anomaly with male phenotype' '49,XXXXY syndrome' SubClassOf 'X chromosome number anomaly with male phenotype' '49,XXXXY syndrome' SubClassOf 'X chromosome number anomaly' http://www.orpha.net/ORDO/Orphanet_397927 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome 'Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome' SubClassOf 'Malformation of the neurenteric canal, spinal cord and column' 'Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome' SubClassOf 'Malformation of the neurenteric canal, spinal cord and column' 'Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome' SubClassOf 'Neural tube defect' http://www.ebi.ac.uk/efo/EFO_0010454 adenosine monophosphate measurement 'adenosine monophosphate measurement' SubClassOf http://www.ebi.ac.uk/efo/EFO_0010968 http://www.ebi.ac.uk/efo/EFO_0010452 adenosine diphosphate measurement 'adenosine diphosphate measurement' SubClassOf http://www.ebi.ac.uk/efo/EFO_0010968 http://www.ebi.ac.uk/efo/EFO_0010478 fructose-1-phosphate measurement 'fructose-1-phosphate measurement' SubClassOf http://www.ebi.ac.uk/efo/EFO_0010968 http://www.ebi.ac.uk/efo/EFO_0010473 cyclic adenosine monophosphate measurement 'cyclic adenosine monophosphate measurement' SubClassOf http://www.ebi.ac.uk/efo/EFO_0010968 http://www.ebi.ac.uk/efo/EFO_0010479 fructose-6-phosphate measurement 'fructose-6-phosphate measurement' SubClassOf http://www.ebi.ac.uk/efo/EFO_0010968 http://www.ebi.ac.uk/efo/EFO_0010495 guanosine monophosphate measurement 'guanosine monophosphate measurement' SubClassOf http://www.ebi.ac.uk/efo/EFO_0010968 http://www.ebi.ac.uk/efo/EFO_0010494 guanosine diphosphate measurement 'guanosine diphosphate measurement' SubClassOf http://www.ebi.ac.uk/efo/EFO_0010968 http://www.ebi.ac.uk/efo/EFO_0010488 glycerol-3-phosphate measurement 'glycerol-3-phosphate measurement' SubClassOf http://www.ebi.ac.uk/efo/EFO_0010968 http://www.ebi.ac.uk/efo/EFO_0010484 glucose-1-phosphate measurement 'glucose-1-phosphate measurement' SubClassOf http://www.ebi.ac.uk/efo/EFO_0010968 http://www.ebi.ac.uk/efo/EFO_0010485 glucose-6-phosphate measurement 'glucose-6-phosphate measurement' SubClassOf http://www.ebi.ac.uk/efo/EFO_0010968 http://www.orpha.net/ORDO/Orphanet_1172 Autosomal recessive cerebellar ataxia 'Autosomal recessive cerebellar ataxia' SubClassOf 'Early-onset ataxia with dementia' 'Autosomal recessive cerebellar ataxia' SubClassOf 'Spinocerebellar ataxia with oculomotor anomaly' 'Autosomal recessive cerebellar ataxia' SubClassOf 'Rare genetic movement disorder' 'Autosomal recessive cerebellar ataxia' SubClassOf 'Ataxia with dementia' 'Autosomal recessive cerebellar ataxia' SubClassOf 'Rare genetic tremor disorder' 'Autosomal recessive cerebellar ataxia' SubClassOf 'Spinocerebellar ataxia with oculomotor anomaly' 'Autosomal recessive cerebellar ataxia' SubClassOf 'Early-onset ataxia with dementia' 'Autosomal recessive cerebellar ataxia' SubClassOf 'Genetic neuro-ophthalmological disease' http://www.orpha.net/ORDO/Orphanet_1173 Cerebellar ataxia - hypogonadism 'Cerebellar ataxia - hypogonadism' SubClassOf 'Genetic neurodegenerative disease' 'Cerebellar ataxia - hypogonadism' SubClassOf 'Rare genetic movement disorder' 'Cerebellar ataxia - hypogonadism' SubClassOf 'Rare genetic tremor disorder' http://www.orpha.net/ORDO/Orphanet_1178 Ataxia - tapetoretinal degeneration 'Ataxia - tapetoretinal degeneration' SubClassOf 'Rare genetic movement disorder' 'Ataxia - tapetoretinal degeneration' SubClassOf 'Genetic neurodegenerative disease' 'Ataxia - tapetoretinal degeneration' SubClassOf 'Rare genetic tremor disorder' http://www.orpha.net/ORDO/Orphanet_1118 Fibular aplasia - ectrodactyly 'Fibular aplasia - ectrodactyly' SubClassOf 'Dysostosis with combined reduction defects of upper and lower limbs' 'Fibular aplasia - ectrodactyly' SubClassOf 'Dysostosis with combined reduction defects of upper and lower limbs' 'Fibular aplasia - ectrodactyly' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'Fibular aplasia - ectrodactyly' SubClassOf 'Genetic syndrome with limb malformations as a major feature' http://www.orpha.net/ORDO/Orphanet_1116 Aplasia cutis congenita - intestinal lymphangiectasia 'Aplasia cutis congenita - intestinal lymphangiectasia' SubClassOf 'primary lymphedema with associated anomalies' 'Aplasia cutis congenita - intestinal lymphangiectasia' SubClassOf 'Primary lymphedema' http://www.orpha.net/ORDO/Orphanet_1121 Radial deficiency - tibial hypoplasia 'Radial deficiency - tibial hypoplasia' SubClassOf 'Dysostosis with combined reduction defects of upper and lower limbs' 'Radial deficiency - tibial hypoplasia' SubClassOf 'Dysostosis with combined reduction defects of upper and lower limbs' 'Radial deficiency - tibial hypoplasia' SubClassOf 'Genetic syndrome with limb malformations as a major feature' 'Radial deficiency - tibial hypoplasia' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' http://www.orpha.net/ORDO/Orphanet_1122 Ulnar hypoplasia - split foot 'Ulnar hypoplasia - split foot' SubClassOf 'Dysostosis with combined reduction defects of upper and lower limbs' 'Ulnar hypoplasia - split foot' SubClassOf 'Genetic syndrome with limb malformations as a major feature' 'Ulnar hypoplasia - split foot' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'Ulnar hypoplasia - split foot' SubClassOf 'Dysostosis with combined reduction defects of upper and lower limbs' http://www.orpha.net/ORDO/Orphanet_309447 Disorder of protein O-glycosylation 'Disorder of protein O-glycosylation' SubClassOf 'realized_in' some ('disease course' and ('has_part' some 'glycosylation')) 'Disorder of protein O-glycosylation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000054 some ('disease course' and ('has_part' some 'glycosylation')) http://www.orpha.net/ORDO/Orphanet_33001 Lymphedema - distichiasis 'Lymphedema - distichiasis' SubClassOf 'primary lymphedema with associated anomalies' http://www.ebi.ac.uk/efo/EFO_0009301 dystonia 28, childhood-onset 'dystonia 28, childhood-onset' SubClassOf 'Rare genetic dystonia' 'dystonia 28, childhood-onset' SubClassOf 'Persistent combined dystonia' http://www.ebi.ac.uk/efo/EFO_0009309 Div-Seq 'Div-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'Div-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.orpha.net/ORDO/Orphanet_263723 Polysomy of X chromosome 'Polysomy of X chromosome' SubClassOf 'X chromosome number anomaly with female phenotype' 'Polysomy of X chromosome' SubClassOf 'X chromosome number anomaly with female phenotype' 'Polysomy of X chromosome' SubClassOf 'X chromosome number anomaly' http://www.orpha.net/ORDO/Orphanet_263717 X chromosome number anomaly with female phenotype 'X chromosome number anomaly with female phenotype' SubClassOf 'X chromosome number anomaly' 'X chromosome number anomaly with female phenotype' SubClassOf 'X chromosome number anomaly' http://www.orpha.net/ORDO/Orphanet_263720 X chromosome number anomaly with male phenotype 'X chromosome number anomaly with male phenotype' SubClassOf 'X chromosome number anomaly' 'X chromosome number anomaly with male phenotype' SubClassOf 'X chromosome number anomaly' http://www.orpha.net/ORDO/Orphanet_309515 Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' SubClassOf 'realized_in' some ('disease course' and ('has_part' some 'glycosylation')) 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000054 some ('disease course' and ('has_part' some 'glycosylation')) http://www.orpha.net/ORDO/Orphanet_309526 Disorder of multiple glycosylation 'Disorder of multiple glycosylation' SubClassOf 'realized_in' some ('disease course' and ('has_part' some 'glycosylation')) 'Disorder of multiple glycosylation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000054 some ('disease course' and ('has_part' some 'glycosylation')) http://purl.obolibrary.org/obo/HP_0002637 Cerebral ischemia 'Cerebral ischemia' SubClassOf 'Arterial stenosis' 'Cerebral ischemia' SubClassOf 'Abnormality of the cerebral vasculature' 'Cerebral ischemia' SubClassOf 'Abnormal cardiovascular system physiology' 'Cerebral ischemia' SubClassOf 'Abnormality of the vasculature' http://purl.obolibrary.org/obo/MONDO_0018700 pseudohypoparathyroidism without Albright hereditary osteodystrophy 'pseudohypoparathyroidism without Albright hereditary osteodystrophy' SubClassOf 'Pseudohypoparathyroidism' http://purl.obolibrary.org/obo/MONDO_0018722 primary lymphedema with associated anomalies 'primary lymphedema with associated anomalies' SubClassOf 'Primary lymphedema' http://www.orpha.net/ORDO/Orphanet_87 Apert syndrome 'Apert syndrome' SubClassOf 'Craniostenosis associated with a strabismus' 'Apert syndrome' SubClassOf 'Craniostenosis associated with a strabismus' 'Apert syndrome' SubClassOf 'Syndrome with a symptomatic strabismus' http://www.orpha.net/ORDO/Orphanet_50 Aicardi syndrome 'Aicardi syndrome' SubClassOf 'Nervous system anomaly with eye involvement' 'Aicardi syndrome' SubClassOf 'Nervous system anomaly with eye involvement' 'Aicardi syndrome' SubClassOf 'Genetic neuro-ophthalmological disease' http://purl.obolibrary.org/obo/MONDO_0004192 urethra cancer 'urethra cancer' SubClassOf 'urethra neoplasm' 'urethra cancer' SubClassOf 'urethral neoplasm' http://www.orpha.net/ORDO/Orphanet_14 Abetalipoproteinemia 'Abetalipoproteinemia' SubClassOf 'congenital anemia' 'Abetalipoproteinemia' SubClassOf 'Developmental anomaly of metabolic origin' http://www.orpha.net/ORDO/Orphanet_79444 Pseudohypoparathyroidism type 1C 'Pseudohypoparathyroidism type 1C' SubClassOf 'pseudohypoparathyroidism with Albright hereditary osteodystrophy' 'Pseudohypoparathyroidism type 1C' SubClassOf 'Pseudohypoparathyroidism' 'Pseudohypoparathyroidism type 1C' SubClassOf 'dermis disease' 'Pseudohypoparathyroidism type 1C' SubClassOf 'Musculoskeletal disease with cataract' 'Pseudohypoparathyroidism type 1C' SubClassOf 'Acromelic dysplasia' 'Pseudohypoparathyroidism type 1C' SubClassOf 'other genetic dermis disorder' 'Pseudohypoparathyroidism type 1C' SubClassOf 'Syndromic obesity' http://www.orpha.net/ORDO/Orphanet_79445 Pseudopseudohypoparathyroidism 'Pseudopseudohypoparathyroidism' SubClassOf 'pseudohypoparathyroidism with Albright hereditary osteodystrophy' 'Pseudopseudohypoparathyroidism' SubClassOf 'Syndromic obesity' 'Pseudopseudohypoparathyroidism' SubClassOf 'Musculoskeletal disease with cataract' 'Pseudopseudohypoparathyroidism' SubClassOf 'other genetic dermis disorder' 'Pseudopseudohypoparathyroidism' SubClassOf 'Pseudohypoparathyroidism' 'Pseudopseudohypoparathyroidism' SubClassOf 'dermis disease' 'Pseudopseudohypoparathyroidism' SubClassOf 'Acromelic dysplasia' http://www.orpha.net/ORDO/Orphanet_79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type b 'Glycogen storage disease due to glucose-6-phosphatase deficiency type b' SubClassOf 'Constitutional neutropenia with extra-haematopoietic manifestations' 'Glycogen storage disease due to glucose-6-phosphatase deficiency type b' SubClassOf 'Constitutional neutropenia' 'Glycogen storage disease due to glucose-6-phosphatase deficiency type b' SubClassOf 'Constitutional neutropenia with extra-haematopoietic manifestations' http://www.orpha.net/ORDO/Orphanet_314603 Autosomal recessive spastic ataxia with leukoencephalopathy 'Autosomal recessive spastic ataxia with leukoencephalopathy' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0018681 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome 'neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome' SubClassOf 'Dysostosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0018699 pseudohypoparathyroidism with Albright hereditary osteodystrophy 'pseudohypoparathyroidism with Albright hereditary osteodystrophy' SubClassOf 'Acromelic dysplasia' 'pseudohypoparathyroidism with Albright hereditary osteodystrophy' SubClassOf 'other genetic dermis disorder' 'pseudohypoparathyroidism with Albright hereditary osteodystrophy' SubClassOf 'Syndromic obesity' 'pseudohypoparathyroidism with Albright hereditary osteodystrophy' SubClassOf 'dermis disease' 'pseudohypoparathyroidism with Albright hereditary osteodystrophy' SubClassOf 'Musculoskeletal disease with cataract' 'pseudohypoparathyroidism with Albright hereditary osteodystrophy' SubClassOf 'genetic skin disease' 'pseudohypoparathyroidism with Albright hereditary osteodystrophy' SubClassOf 'Pseudohypoparathyroidism' http://www.orpha.net/ORDO/Orphanet_169110 Immunoglobulin heavy chain deficiency 'Immunoglobulin heavy chain deficiency' SubClassOf 'Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells' 'Immunoglobulin heavy chain deficiency' SubClassOf 'Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells' 'Immunoglobulin heavy chain deficiency' SubClassOf 'Immunodeficiency predominantly affecting antibody production' http://www.ebi.ac.uk/efo/EFO_0004624 prostate specific antigen measurement 'prostate specific antigen measurement' SubClassOf 'protein measurement' http://www.orpha.net/ORDO/Orphanet_95 Friedreich ataxia 'Friedreich ataxia' SubClassOf 'Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly' 'Friedreich ataxia' SubClassOf 'Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly' http://www.orpha.net/ORDO/Orphanet_96 Ataxia with vitamin E deficiency 'Ataxia with vitamin E deficiency' SubClassOf 'Developmental anomaly of metabolic origin' http://www.orpha.net/ORDO/Orphanet_99 Autosomal dominant cerebellar ataxia 'Autosomal dominant cerebellar ataxia' SubClassOf 'Late-onset ataxia with dementia' 'Autosomal dominant cerebellar ataxia' SubClassOf 'Spinocerebellar ataxia with oculomotor anomaly' 'Autosomal dominant cerebellar ataxia' SubClassOf 'Ataxia with dementia' 'Autosomal dominant cerebellar ataxia' SubClassOf 'Rare genetic movement disorder' 'Autosomal dominant cerebellar ataxia' SubClassOf 'Late-onset ataxia with dementia' 'Autosomal dominant cerebellar ataxia' SubClassOf 'Rare genetic tremor disorder' 'Autosomal dominant cerebellar ataxia' SubClassOf 'Spinocerebellar ataxia with oculomotor anomaly' 'Autosomal dominant cerebellar ataxia' SubClassOf 'Genetic neuro-ophthalmological disease' http://www.orpha.net/ORDO/Orphanet_79319 MPI-CDG 'MPI-CDG' SubClassOf 'primary lymphedema with associated anomalies' http://purl.obolibrary.org/obo/MONDO_0018545 primary immunodeficiency with predisposition to severe viral infection 'primary immunodeficiency with predisposition to severe viral infection' SubClassOf 'Primary immunodeficiency due to a defect in innate immunity' http://www.orpha.net/ORDO/Orphanet_79477 Griscelli disease type 2 'Griscelli disease type 2' SubClassOf 'Constitutional neutropenia with extra-haematopoietic manifestations' 'Griscelli disease type 2' SubClassOf 'Constitutional neutropenia with extra-haematopoietic manifestations' 'Griscelli disease type 2' SubClassOf 'Constitutional neutropenia' http://www.orpha.net/ORDO/Orphanet_228140 Idiopathic ventricular fibrillation, not Brugada type 'Idiopathic ventricular fibrillation, not Brugada type' SubClassOf 'ventricular fibrillation' 'Idiopathic ventricular fibrillation, not Brugada type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100234 http://www.orpha.net/ORDO/Orphanet_363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome 'Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome' SubClassOf 'Developmental anomaly of metabolic origin' http://www.ebi.ac.uk/efo/EFO_1000644 newborn respiratory distress syndrome 'newborn respiratory distress syndrome' SubClassOf 'acute respiratory distress syndrome' 'newborn respiratory distress syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100131 http://www.orpha.net/ORDO/Orphanet_1797 Autosomal dominant spondylocostal dysostosis 'Autosomal dominant spondylocostal dysostosis' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'Autosomal dominant spondylocostal dysostosis' SubClassOf 'Dysostosis of genetic origin' 'Autosomal dominant spondylocostal dysostosis' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' http://www.orpha.net/ORDO/Orphanet_1794 Oculomaxillofacial dysostosis 'Oculomaxillofacial dysostosis' SubClassOf 'Dysostosis with predominant craniofacial involvement' 'Oculomaxillofacial dysostosis' SubClassOf 'Dysostosis with predominant craniofacial involvement' 'Oculomaxillofacial dysostosis' SubClassOf 'Dysostosis of genetic origin' http://www.orpha.net/ORDO/Orphanet_1764 Familial dysautonomia 'Familial dysautonomia' SubClassOf 'Nervous system anomaly with eye involvement' 'Familial dysautonomia' SubClassOf 'Nervous system anomaly with eye involvement' 'Familial dysautonomia' SubClassOf 'Genetic neuro-ophthalmological disease' http://www.ebi.ac.uk/efo/EFO_0002508 Parkinson's disease 'Parkinson's disease' SubClassOf 'realized_in' some ('disease course' and ('has_part' some 'Neurodegeneration')) 'Parkinson's disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000054 some ('disease course' and ('has_part' some 'Neurodegeneration')) http://purl.obolibrary.org/obo/MONDO_0018299 sphingolipidosis with epilepsy 'sphingolipidosis with epilepsy' SubClassOf 'lysosomal disease with epilepsy' 'sphingolipidosis with epilepsy' SubClassOf 'Sphingolipidosis' http://www.orpha.net/ORDO/Orphanet_1671 Diastematomyelia 'Diastematomyelia' SubClassOf 'Malformation of the neurenteric canal, spinal cord and column' 'Diastematomyelia' SubClassOf 'Neural tube defect' 'Diastematomyelia' SubClassOf 'Malformation of the neurenteric canal, spinal cord and column' http://purl.obolibrary.org/obo/HP_0002904 Hyperbilirubinemia 'Hyperbilirubinemia' SubClassOf 'Abnormal circulating carboxylic acid concentration' http://www.orpha.net/ORDO/Orphanet_1655 Müllerian derivatives - lymphangiectasia - polydactyly 'Müllerian derivatives - lymphangiectasia - polydactyly' SubClassOf 'primary lymphedema with associated anomalies' 'Müllerian derivatives - lymphangiectasia - polydactyly' SubClassOf 'Primary lymphedema' http://www.orpha.net/ORDO/Orphanet_363705 Craniofaciofrontodigital syndrome 'Craniofaciofrontodigital syndrome' SubClassOf 'Dysostosis with predominant craniofacial involvement' 'Craniofaciofrontodigital syndrome' SubClassOf 'Dysostosis of genetic origin' 'Craniofaciofrontodigital syndrome' SubClassOf 'Dysostosis with predominant craniofacial involvement' http://www.orpha.net/ORDO/Orphanet_1930 Herpetic encephalitis 'Herpetic encephalitis' SubClassOf 'herpes simplex infectious disease' 'Herpetic encephalitis' SubClassOf 'Herpes simplex infection' http://www.ebi.ac.uk/efo/EFO_0002896 microRNA profiling by high throughput sequencing 'microRNA profiling by high throughput sequencing' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'microRNA profiling by high throughput sequencing' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0000195 metabolic syndrome 'metabolic syndrome' SubClassOf 'realized_in' some ('disease course' and ('has_part' some 'metabolic process')) 'metabolic syndrome' SubClassOf http://purl.obolibrary.org/obo/BFO_0000054 some ('disease course' and ('has_part' some 'metabolic process')) http://www.orpha.net/ORDO/Orphanet_1986 Gollop-Wolfgang complex 'Gollop-Wolfgang complex' SubClassOf 'Dysostosis with combined reduction defects of upper and lower limbs' 'Gollop-Wolfgang complex' SubClassOf 'Dysostosis with combined reduction defects of upper and lower limbs' http://www.orpha.net/ORDO/Orphanet_79219 Metabolic disease involving other neurotransmitter deficiency 'Metabolic disease involving other neurotransmitter deficiency' SubClassOf 'metabolic neurotransmission anomaly with epilepsy' 'Metabolic disease involving other neurotransmitter deficiency' SubClassOf 'metabolic disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_157850 Pantothenate kinase-associated neurodegeneration 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'realized_in' some ('disease course' and ('has_part' some 'Neurodegeneration')) 'Pantothenate kinase-associated neurodegeneration' SubClassOf http://purl.obolibrary.org/obo/BFO_0000054 some ('disease course' and ('has_part' some 'Neurodegeneration')) http://www.ebi.ac.uk/efo/EFO_1000515 Salivary Gland Basal Cell Adenocarcinoma 'Salivary Gland Basal Cell Adenocarcinoma' SubClassOf 'basal cell carcinoma' 'Salivary Gland Basal Cell Adenocarcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0005341 http://www.orpha.net/ORDO/Orphanet_79096 Pyridoxal phosphate-responsive seizures 'Pyridoxal phosphate-responsive seizures' SubClassOf 'metabolic neurotransmission anomaly with epilepsy' 'Pyridoxal phosphate-responsive seizures' SubClassOf 'metabolic disease with epilepsy' http://www.ebi.ac.uk/efo/EFO_1000529 Skin Basosquamous Cell Carcinoma 'Skin Basosquamous Cell Carcinoma' SubClassOf 'basal cell carcinoma' 'Skin Basosquamous Cell Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0005341 http://www.ebi.ac.uk/efo/EFO_0002693 DNA-seq 'DNA-seq' SubClassOf 'transcription profiling by high throughput sequencing' 'DNA-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'DNA-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) 'DNA-seq' SubClassOf 'assay by high throughput sequencer' http://www.ebi.ac.uk/efo/EFO_0002692 ChIP-seq 'ChIP-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'ChIP-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.orpha.net/ORDO/Orphanet_69735 Hypotrichosis - lymphedema - telangiectasia 'Hypotrichosis - lymphedema - telangiectasia' SubClassOf 'primary lymphedema with associated anomalies' http://www.orpha.net/ORDO/Orphanet_43115 Hereditary myopathy with lactic acidosis due to ISCU deficiency 'Hereditary myopathy with lactic acidosis due to ISCU deficiency' SubClassOf 'Exercise intolerance with lactic acidosis' 'Hereditary myopathy with lactic acidosis due to ISCU deficiency' SubClassOf 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' 'Hereditary myopathy with lactic acidosis due to ISCU deficiency' SubClassOf 'Exercise intolerance with lactic acidosis' http://www.ebi.ac.uk/efo/EFO_0005227 GRO-seq 'GRO-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'GRO-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0005219 TraDIS sequencing 'TraDIS sequencing' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'TraDIS sequencing' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.orpha.net/ORDO/Orphanet_99013 Autosomal recessive spastic paraplegia type 7 'Autosomal recessive spastic paraplegia type 7' SubClassOf 'Rare genetic movement disorder' 'Autosomal recessive spastic paraplegia type 7' SubClassOf 'Rare genetic tremor disorder' 'Autosomal recessive spastic paraplegia type 7' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_207012 Spinal muscular atrophy associated with central nervous system anomaly 'Spinal muscular atrophy associated with central nervous system anomaly' SubClassOf 'Bulbospinal muscular atrophy' 'Spinal muscular atrophy associated with central nervous system anomaly' SubClassOf 'Bulbospinal muscular atrophy' http://purl.obolibrary.org/obo/MONDO_0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity 'autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity' SubClassOf 'primary immunodeficiency with predisposition to severe viral infection' 'autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity' SubClassOf 'Primary immunodeficiency due to a defect in innate immunity' http://www.orpha.net/ORDO/Orphanet_89844 Lissencephaly syndrome, Norman-Roberts type 'Lissencephaly syndrome, Norman-Roberts type' SubClassOf 'primary lymphedema with associated anomalies' http://www.ebi.ac.uk/efo/EFO_0005396 exome sequencing 'exome sequencing' SubClassOf 'transcription profiling by high throughput sequencing' 'exome sequencing' SubClassOf 'DNA assay' 'exome sequencing' SubClassOf 'assay by high throughput sequencer' 'exome sequencing' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.orpha.net/ORDO/Orphanet_99097 Single ventricular septal defect 'Single ventricular septal defect' SubClassOf 'Ventricular septal defect' 'Single ventricular septal defect' SubClassOf 'ventricular septal defect (disease)' 'Single ventricular septal defect' SubClassOf 'Ventricular septal defect' http://www.orpha.net/ORDO/Orphanet_220295 Xeroderma pigmentosum-Cockayne syndrome complex 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'Developmental anomaly of metabolic origin' http://purl.obolibrary.org/obo/MONDO_0002070 ventricular septal defect (disease) 'ventricular septal defect (disease)' SubClassOf 'heart septal defect' http://www.ebi.ac.uk/efo/EFO_0005302 ChIP-exo 'ChIP-exo' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'ChIP-exo' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0003075 xanthoma 'xanthoma' SubClassOf 'realized_in' some ('disease course' and ('has_part' some 'metabolic process')) 'xanthoma' SubClassOf http://purl.obolibrary.org/obo/BFO_0000054 some ('disease course' and ('has_part' some 'metabolic process')) http://www.ebi.ac.uk/efo/EFO_0003096 Pick disease 'Pick disease' SubClassOf 'realized_in' some ('disease course' and ('has_part' some 'Neurodegeneration')) 'Pick disease' SubClassOf 'realized_in' some ('disease course' and ('has_part' some 'microtubule-associated protein tau')) 'Pick disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000054 some ('disease course' and ('has_part' some 'Neurodegeneration')) 'Pick disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000054 some ('disease course' and ('has_part' some 'microtubule-associated protein tau')) http://www.orpha.net/ORDO/Orphanet_401866 Spasticity-ataxia-gait anomalies syndrome 'Spasticity-ataxia-gait anomalies syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0004609 herpes simplex infectious disease 'herpes simplex infectious disease' SubClassOf 'Herpesviridae infectious disease' http://www.orpha.net/ORDO/Orphanet_77261 Gaucher disease type 3 'Gaucher disease type 3' SubClassOf 'sphingolipidosis with epilepsy' 'Gaucher disease type 3' SubClassOf 'lysosomal disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_77260 Gaucher disease type 2 'Gaucher disease type 2' SubClassOf 'sphingolipidosis with epilepsy' 'Gaucher disease type 2' SubClassOf 'lysosomal disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_65287 Beta-ureidopropionase deficiency 'Beta-ureidopropionase deficiency' SubClassOf 'metabolic neurotransmission anomaly with epilepsy' 'Beta-ureidopropionase deficiency' SubClassOf 'metabolic disease with epilepsy' http://purl.obolibrary.org/obo/MONDO_0016404 metabolic neurotransmission anomaly with epilepsy 'metabolic neurotransmission anomaly with epilepsy' SubClassOf 'metabolic disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_220497 Joubert syndrome with renal defect 'Joubert syndrome with renal defect' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' http://www.orpha.net/ORDO/Orphanet_220493 Joubert syndrome with ocular defect 'Joubert syndrome with ocular defect' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' http://www.orpha.net/ORDO/Orphanet_90023 Primary immunodeficiency syndrome due to p14 deficiency 'Primary immunodeficiency syndrome due to p14 deficiency' SubClassOf 'Constitutional neutropenia with extra-haematopoietic manifestations' 'Primary immunodeficiency syndrome due to p14 deficiency' SubClassOf 'Constitutional neutropenia' 'Primary immunodeficiency syndrome due to p14 deficiency' SubClassOf 'Constitutional neutropenia with extra-haematopoietic manifestations' http://www.ebi.ac.uk/efo/EFO_0005517 RIP-Chip by array 'RIP-Chip by array' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'RIP-Chip by array' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0005545 congenital disorder of glycosylation type I 'congenital disorder of glycosylation type I' SubClassOf 'realized_in' some ('disease course' and ('has_part' some 'glycosylation')) 'congenital disorder of glycosylation type I' SubClassOf http://purl.obolibrary.org/obo/BFO_0000054 some ('disease course' and ('has_part' some 'glycosylation')) http://www.ebi.ac.uk/efo/EFO_0005546 congenital disorder of glycosylation type II 'congenital disorder of glycosylation type II' SubClassOf 'realized_in' some ('disease course' and ('has_part' some 'glycosylation')) 'congenital disorder of glycosylation type II' SubClassOf http://purl.obolibrary.org/obo/BFO_0000054 some ('disease course' and ('has_part' some 'glycosylation')) http://www.ebi.ac.uk/efo/EFO_0005590 steroid inherited metabolic disorder 'steroid inherited metabolic disorder' SubClassOf 'realized_in' some ('disease course' and ('has_part' some 'metabolic process')) 'steroid inherited metabolic disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000054 some ('disease course' and ('has_part' some 'metabolic process')) http://www.ebi.ac.uk/efo/EFO_0005596 vitamin metabolic disorder 'vitamin metabolic disorder' SubClassOf 'realized_in' some ('disease course' and ('has_part' some 'metabolic process')) 'vitamin metabolic disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000054 some ('disease course' and ('has_part' some 'metabolic process')) http://www.ebi.ac.uk/efo/EFO_0005815 tauopathy 'tauopathy' EquivalentTo 'realized_in' some ('disease course' and ('has_part' some 'microtubule-associated protein tau')) 'tauopathy' EquivalentTo http://purl.obolibrary.org/obo/BFO_0000054 some ('disease course' and ('has_part' some 'microtubule-associated protein tau')) http://www.orpha.net/ORDO/Orphanet_77292 Niemann-Pick disease type A 'Niemann-Pick disease type A' SubClassOf 'sphingolipidosis with epilepsy' 'Niemann-Pick disease type A' SubClassOf 'lysosomal disease with epilepsy' http://www.ebi.ac.uk/efo/EFO_0005809 type II hypersensitivity reaction disease 'type II hypersensitivity reaction disease' EquivalentTo 'realized_in' some ('disease course' and ('has_part' some 'type II hypersensitivity')) 'type II hypersensitivity reaction disease' EquivalentTo http://purl.obolibrary.org/obo/BFO_0000054 some ('disease course' and ('has_part' some 'type II hypersensitivity')) http://www.orpha.net/ORDO/Orphanet_28378 Tyrosinemia type 2 'Tyrosinemia type 2' SubClassOf 'Syndromic ichthyosis associated with ocular features' 'Tyrosinemia type 2' SubClassOf 'Syndromic ichthyosis associated with ocular features' http://www.ebi.ac.uk/efo/EFO_0005741 infectious disease 'infectious disease' EquivalentTo 'disease' and ('realized_in' some ('disease course' and ('has_part' some 'infection'))) 'infectious disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/BFO_0000054 some ('disease course' and ('has_part' some 'infection'))) http://www.ebi.ac.uk/efo/EFO_0005769 calcium metabolic disease 'calcium metabolic disease' EquivalentTo 'realized_in' some ('disease course' and ('has_part' some 'calcium ion homeostasis')) 'calcium metabolic disease' EquivalentTo http://purl.obolibrary.org/obo/BFO_0000054 some ('disease course' and ('has_part' some 'calcium ion homeostasis')) http://www.ebi.ac.uk/efo/EFO_0005772 neurodegenerative disease 'neurodegenerative disease' EquivalentTo 'realized_in' some ('disease course' and ('has_part' some 'Neurodegeneration')) 'neurodegenerative disease' EquivalentTo http://purl.obolibrary.org/obo/BFO_0000054 some ('disease course' and ('has_part' some 'Neurodegeneration')) http://www.ebi.ac.uk/efo/EFO_0003143 CLIP-seq 'CLIP-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'CLIP-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0009682 pregnancy disorder 'pregnancy disorder' EquivalentTo 'disease' and ('realized_in' some ('pregnancy' or ('part of' some 'pregnancy'))) 'pregnancy disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/BFO_0000054 some ('pregnancy' or ('part of' some 'pregnancy'))) http://www.ebi.ac.uk/efo/EFO_0009671 hereditary ataxia 'hereditary ataxia' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_3006 Pyridoxine-dependent epilepsy 'Pyridoxine-dependent epilepsy' SubClassOf 'metabolic neurotransmission anomaly with epilepsy' 'Pyridoxine-dependent epilepsy' SubClassOf 'metabolic disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_73245 Spinal muscular atrophy - Dandy-Walker malformation - cataracts 'Spinal muscular atrophy - Dandy-Walker malformation - cataracts' SubClassOf 'Spinal muscular atrophy associated with central nervous system anomaly' 'Spinal muscular atrophy - Dandy-Walker malformation - cataracts' SubClassOf 'Bulbospinal muscular atrophy' 'Spinal muscular atrophy - Dandy-Walker malformation - cataracts' SubClassOf 'Spinal muscular atrophy associated with central nervous system anomaly' http://www.orpha.net/ORDO/Orphanet_85200 Ischio-vertebral syndrome 'Ischio-vertebral syndrome' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'Ischio-vertebral syndrome' SubClassOf 'Dysostosis of genetic origin' 'Ischio-vertebral syndrome' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' http://www.orpha.net/ORDO/Orphanet_3027 Caudal regression sequence 'Caudal regression sequence' SubClassOf 'Malformation of the neurenteric canal, spinal cord and column' 'Caudal regression sequence' SubClassOf 'Malformation of the neurenteric canal, spinal cord and column' 'Caudal regression sequence' SubClassOf 'Neural tube defect' http://www.orpha.net/ORDO/Orphanet_3034 Delayed membranous cranial ossification 'Delayed membranous cranial ossification' SubClassOf 'Cleidocranial dysplasia and isolated cranial ossification defect' 'Delayed membranous cranial ossification' SubClassOf 'Primary bone dysplasia' 'Delayed membranous cranial ossification' SubClassOf 'Cleidocranial dysplasia and isolated cranial ossification defect' http://purl.obolibrary.org/obo/MONDO_0000632 uterine benign neoplasm 'uterine benign neoplasm' SubClassOf 'tumor of uterus' 'uterine benign neoplasm' SubClassOf 'uterine neoplasm' http://www.ebi.ac.uk/efo/EFO_0010530 ribulose-5-phosphate measurement 'ribulose-5-phosphate measurement' SubClassOf http://www.ebi.ac.uk/efo/EFO_0010968 http://www.ebi.ac.uk/efo/EFO_0010529 ribose-5-phosphate measurement 'ribose-5-phosphate measurement' SubClassOf http://www.ebi.ac.uk/efo/EFO_0010968 http://www.ebi.ac.uk/efo/EFO_0010543 uridine diphosphate galactose measurement 'uridine diphosphate galactose measurement' SubClassOf http://www.ebi.ac.uk/efo/EFO_0010968 http://www.ebi.ac.uk/efo/EFO_0010544 uridine diphosphate glucose measurement 'uridine diphosphate glucose measurement' SubClassOf http://www.ebi.ac.uk/efo/EFO_0010968 http://www.ebi.ac.uk/efo/EFO_0010545 uridine diphosphate measurement 'uridine diphosphate measurement' SubClassOf http://www.ebi.ac.uk/efo/EFO_0010968 http://www.orpha.net/ORDO/Orphanet_85164 Camptodactyly - tall stature - scoliosis - hearing loss 'Camptodactyly - tall stature - scoliosis - hearing loss' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'Camptodactyly - tall stature - scoliosis - hearing loss' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'Camptodactyly - tall stature - scoliosis - hearing loss' SubClassOf 'Dysostosis of genetic origin' http://purl.obolibrary.org/obo/OBI_0200000 data transformation 'assay' DisjointWith 'data transformation' http://www.ebi.ac.uk/efo/EFO_1002022 Herpes simplex infection 'Herpes simplex infection' SubClassOf 'Herpesviridae infectious disease' http://www.orpha.net/ORDO/Orphanet_85199 Craniosynostosis - anal anomalies - porokeratosis 'Craniosynostosis - anal anomalies - porokeratosis' SubClassOf 'Cleidocranial dysplasia and isolated cranial ossification defect' 'Craniosynostosis - anal anomalies - porokeratosis' SubClassOf 'Cleidocranial dysplasia and isolated cranial ossification defect' 'Craniosynostosis - anal anomalies - porokeratosis' SubClassOf 'Primary bone dysplasia' http://www.ebi.ac.uk/efo/EFO_0007236 diffuse idiopathic skeletal hyperostosis 'diffuse idiopathic skeletal hyperostosis' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'diffuse idiopathic skeletal hyperostosis' SubClassOf 'Dysostosis of genetic origin' http://www.orpha.net/ORDO/Orphanet_48431 Congenital cataracts - facial dysmorphism - neuropathy 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3291 Teebi-Shaltout syndrome 'Teebi-Shaltout syndrome' SubClassOf 'Dysostosis with predominant craniofacial involvement' 'Teebi-Shaltout syndrome' SubClassOf 'Dysostosis of genetic origin' 'Teebi-Shaltout syndrome' SubClassOf 'Dysostosis with predominant craniofacial involvement' http://www.ebi.ac.uk/efo/EFO_0007282 genital herpes 'genital herpes' SubClassOf 'herpes simplex infectious disease' 'genital herpes' SubClassOf 'Herpes simplex infection' http://www.orpha.net/ORDO/Orphanet_3262 Syngnathia multiple anomalies 'Syngnathia multiple anomalies' SubClassOf 'Dysostosis with predominant craniofacial involvement' 'Syngnathia multiple anomalies' SubClassOf 'Dysostosis with predominant craniofacial involvement' 'Syngnathia multiple anomalies' SubClassOf 'Dysostosis of genetic origin' http://www.orpha.net/ORDO/Orphanet_3329 Tibial aplasia - ectrodactyly 'Tibial aplasia - ectrodactyly' SubClassOf 'Dysostosis with combined reduction defects of upper and lower limbs' 'Tibial aplasia - ectrodactyly' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'Tibial aplasia - ectrodactyly' SubClassOf 'Dysostosis with combined reduction defects of upper and lower limbs' http://www.orpha.net/ORDO/Orphanet_3332 Hypoplastic tibiae - postaxial polydactyly 'Hypoplastic tibiae - postaxial polydactyly' SubClassOf 'Dysostosis with combined reduction defects of upper and lower limbs' 'Hypoplastic tibiae - postaxial polydactyly' SubClassOf 'Dysostosis with combined reduction defects of upper and lower limbs' 'Hypoplastic tibiae - postaxial polydactyly' SubClassOf 'Genetic syndrome with limb malformations as a major feature' 'Hypoplastic tibiae - postaxial polydactyly' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' http://purl.obolibrary.org/obo/MONDO_0000437 cerebellar ataxia 'cerebellar ataxia' SubClassOf 'Rare genetic tremor disorder' 'cerebellar ataxia' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' 'cerebellar ataxia' SubClassOf 'Rare genetic movement disorder' 'cerebellar ataxia' SubClassOf 'has modifier' some 'rare' 'cerebellar ataxia' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_3177 Corneal-cerebellar syndrome 'Corneal-cerebellar syndrome' SubClassOf 'Genetic neurodegenerative disease' 'Corneal-cerebellar syndrome' SubClassOf 'Rare genetic tremor disorder' 'Corneal-cerebellar syndrome' SubClassOf 'Rare genetic movement disorder' http://www.orpha.net/ORDO/Orphanet_99901 Acyl-CoA dehydrogenase 9 deficiency 'Acyl-CoA dehydrogenase 9 deficiency' SubClassOf 'Exercise intolerance with lactic acidosis' 'Acyl-CoA dehydrogenase 9 deficiency' SubClassOf 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' 'Acyl-CoA dehydrogenase 9 deficiency' SubClassOf 'Exercise intolerance with lactic acidosis' http://www.orpha.net/ORDO/Orphanet_3157 Septo-optic dysplasia 'Septo-optic dysplasia' SubClassOf 'Nervous system anomaly with eye involvement' 'Septo-optic dysplasia' SubClassOf 'Nervous system anomaly with eye involvement' 'Septo-optic dysplasia' SubClassOf 'Genetic neuro-ophthalmological disease' http://www.orpha.net/ORDO/Orphanet_3226 Deafness - lymphedema - leukemia 'Deafness - lymphedema - leukemia' SubClassOf 'primary lymphedema with associated anomalies' http://www.orpha.net/ORDO/Orphanet_329191 Tall stature - scoliosis - macrodactyly of the great toes 'Tall stature - scoliosis - macrodactyly of the great toes' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'Tall stature - scoliosis - macrodactyly of the great toes' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'Tall stature - scoliosis - macrodactyly of the great toes' SubClassOf 'Dysostosis of genetic origin' http://www.orpha.net/ORDO/Orphanet_63440 Isolated oxycephaly 'Isolated oxycephaly' SubClassOf 'Craniostenosis associated with a strabismus' 'Isolated oxycephaly' SubClassOf 'Syndrome with a symptomatic strabismus' 'Isolated oxycephaly' SubClassOf 'Craniostenosis associated with a strabismus' http://www.ebi.ac.uk/efo/EFO_0007409 ornithine carbamoyltransferase deficiency 'ornithine carbamoyltransferase deficiency' SubClassOf 'Disorder of urea cycle metabolism and ammonia detoxification' http://www.orpha.net/ORDO/Orphanet_329252 Spondylocostal dysostosis - hypospadias - intellectual disability 'Spondylocostal dysostosis - hypospadias - intellectual disability' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'Spondylocostal dysostosis - hypospadias - intellectual disability' SubClassOf 'Dysostosis of genetic origin' 'Spondylocostal dysostosis - hypospadias - intellectual disability' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' http://www.ebi.ac.uk/efo/EFO_0009985 DNA SPRITE 'DNA SPRITE' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'DNA SPRITE' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0009986 RNA-DNA SPRITE 'RNA-DNA SPRITE' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'RNA-DNA SPRITE' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'RNA-DNA SPRITE' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) 'RNA-DNA SPRITE' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0009988 MARGI 'MARGI' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'MARGI' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'MARGI' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) 'MARGI' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0009972 NAD-seq 'NAD-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'NAD-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0009973 CUT&RUN 'CUT&RUN' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'CUT&RUN' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0009970 multi-stage Repli-seq 'multi-stage Repli-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'multi-stage Repli-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0009971 TSA-seq 'TSA-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'TSA-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0009994 scABA-seq 'scABA-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'scABA-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0009995 UMI-4C 'UMI-4C' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'UMI-4C' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0009996 ddMDA 'ddMDA' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'ddMDA' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0009997 EpiRADSeq 'EpiRADSeq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'EpiRADSeq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0009991 Nuc-Seq 'Nuc-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'Nuc-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0009992 Bubble-Seq 'Bubble-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'Bubble-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'Bubble-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) 'Bubble-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0009993 ChIP-BMS 'ChIP-BMS' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'ChIP-BMS' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0009998 eCLIP 'eCLIP' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'eCLIP' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0009999 G&T-Seq 'G&T-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'G&T-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'G&T-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) 'G&T-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.orpha.net/ORDO/Orphanet_75327 North Carolina macular dystrophy 'North Carolina macular dystrophy' SubClassOf 'Colobomatous and areolar dystrophy' 'North Carolina macular dystrophy' SubClassOf 'Colobomatous and areolar dystrophy' 'North Carolina macular dystrophy' SubClassOf 'Genetic macular dystrophy' http://www.orpha.net/ORDO/Orphanet_75377 Central areolar choroidal dystrophy 'Central areolar choroidal dystrophy' SubClassOf 'Colobomatous and areolar dystrophy' 'Central areolar choroidal dystrophy' SubClassOf 'Colobomatous and areolar dystrophy' 'Central areolar choroidal dystrophy' SubClassOf 'Genetic macular dystrophy' http://purl.obolibrary.org/obo/MONDO_0002715 uterine cancer 'uterine cancer' SubClassOf 'tumor of uterus' 'uterine cancer' SubClassOf 'uterine neoplasm' http://purl.obolibrary.org/obo/MONDO_0014714 progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 'progressive microcephaly-seizures-cortical blindness-developmental delay syndrome' SubClassOf 'Nervous system anomaly with eye involvement' 'progressive microcephaly-seizures-cortical blindness-developmental delay syndrome' SubClassOf 'Genetic neuro-ophthalmological disease' http://www.ebi.ac.uk/efo/EFO_0009920 Slide-seq 'Slide-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'Slide-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0009918 smFISH 'smFISH' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'smFISH' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0009919 SPLiT-seq 'SPLiT-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'SPLiT-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.orpha.net/ORDO/Orphanet_199354 CARASIL 'CARASIL' SubClassOf http://purl.obolibrary.org/obo/MONDO_0014768 http://www.ebi.ac.uk/efo/EFO_0007308 Herpes simplex virus keratitis 'Herpes simplex virus keratitis' SubClassOf 'herpes simplex infectious disease' http://www.ebi.ac.uk/efo/EFO_0007307 Herpes simplex virus gingivostomatitis 'Herpes simplex virus gingivostomatitis' SubClassOf 'herpes simplex infectious disease' 'Herpes simplex virus gingivostomatitis' SubClassOf 'Herpes simplex infection' http://www.orpha.net/ORDO/Orphanet_199343 EAST syndrome 'EAST syndrome' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_199337 Pancreatic insufficiency - anemia - hyperostosis 'Pancreatic insufficiency - anemia - hyperostosis' SubClassOf 'Cleidocranial dysplasia and isolated cranial ossification defect' 'Pancreatic insufficiency - anemia - hyperostosis' SubClassOf 'Primary bone dysplasia' 'Pancreatic insufficiency - anemia - hyperostosis' SubClassOf 'Cleidocranial dysplasia and isolated cranial ossification defect' http://www.ebi.ac.uk/efo/EFO_0007688 chromosome conformation capture assay 'chromosome conformation capture assay' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'chromosome conformation capture assay' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0005016 454 Sequencing '454 Sequencing' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) '454 Sequencing' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.orpha.net/ORDO/Orphanet_51636 WHIM syndrome 'WHIM syndrome' SubClassOf 'Constitutional neutropenia with extra-haematopoietic manifestations' 'WHIM syndrome' SubClassOf 'Constitutional neutropenia with extra-haematopoietic manifestations' 'WHIM syndrome' SubClassOf 'Constitutional neutropenia' http://purl.obolibrary.org/obo/MONDO_0014608 mandibulofacial dysostosis with alopecia 'mandibulofacial dysostosis with alopecia' SubClassOf 'Dysostosis with predominant craniofacial involvement' 'mandibulofacial dysostosis with alopecia' SubClassOf 'Dysostosis of genetic origin' http://www.orpha.net/ORDO/Orphanet_95494 Combined pituitary hormone deficiencies, genetic forms 'Combined pituitary hormone deficiencies, genetic forms' SubClassOf 'Hypogonadotropic hypogonadism associated with other endocrinopathies' 'Combined pituitary hormone deficiencies, genetic forms' SubClassOf 'Hypogonadotropic hypogonadism associated with other endocrinopathies' 'Combined pituitary hormone deficiencies, genetic forms' SubClassOf 'Congenital hypogonadotropic hypogonadism' 'Combined pituitary hormone deficiencies, genetic forms' SubClassOf 'Rare female infertility due to a congenital hypogonadotropic hypogonadism' http://purl.obolibrary.org/obo/MONDO_0010837 primary hyperparathyroidism (disease) 'primary hyperparathyroidism (disease)' SubClassOf 'hyperparathyroidism' http://www.orpha.net/ORDO/Orphanet_2690 Neutropenia - monocytopenia - deafness 'Neutropenia - monocytopenia - deafness' SubClassOf 'Constitutional neutropenia with extra-haematopoietic manifestations' 'Neutropenia - monocytopenia - deafness' SubClassOf 'Constitutional neutropenia with extra-haematopoietic manifestations' 'Neutropenia - monocytopenia - deafness' SubClassOf 'Constitutional neutropenia' http://www.orpha.net/ORDO/Orphanet_2590 Hereditary myoclonus - progressive distal muscular atrophy 'Hereditary myoclonus - progressive distal muscular atrophy' SubClassOf 'Progressive epilepsy and/or ataxia with myoclonus as a major feature' 'Hereditary myoclonus - progressive distal muscular atrophy' SubClassOf 'Progressive epilepsy and/or ataxia with myoclonus as a major feature' 'Hereditary myoclonus - progressive distal muscular atrophy' SubClassOf 'variable age onset epilepsy' 'Hereditary myoclonus - progressive distal muscular atrophy' SubClassOf 'rare disease with myoclonus as a major feature' http://www.orpha.net/ORDO/Orphanet_2571 X-linked immunoneurologic disorder 'X-linked immunoneurologic disorder' SubClassOf 'Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells' 'X-linked immunoneurologic disorder' SubClassOf 'Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells' 'X-linked immunoneurologic disorder' SubClassOf 'Immunodeficiency predominantly affecting antibody production' http://www.orpha.net/ORDO/Orphanet_2579 Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus 'Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus' SubClassOf 'Rare genetic tremor disorder' 'Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus' SubClassOf 'Rare genetic movement disorder' 'Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_2589 Myoclonus - cerebellar ataxia - deafness 'Myoclonus - cerebellar ataxia - deafness' SubClassOf 'Genetic neurodegenerative disease' 'Myoclonus - cerebellar ataxia - deafness' SubClassOf 'Rare genetic movement disorder' 'Myoclonus - cerebellar ataxia - deafness' SubClassOf 'Rare genetic tremor disorder' http://www.orpha.net/ORDO/Orphanet_2512 Autosomal recessive primary microcephaly 'Autosomal recessive primary microcephaly' SubClassOf 'Nervous system anomaly with eye involvement' 'Autosomal recessive primary microcephaly' SubClassOf 'Nervous system anomaly with eye involvement' 'Autosomal recessive primary microcephaly' SubClassOf 'Genetic neuro-ophthalmological disease' http://www.orpha.net/ORDO/Orphanet_2524 Pontocerebellar hypoplasia type 2 'Pontocerebellar hypoplasia type 2' SubClassOf 'Spinal muscular atrophy associated with central nervous system anomaly' 'Pontocerebellar hypoplasia type 2' SubClassOf 'Bulbospinal muscular atrophy' 'Pontocerebellar hypoplasia type 2' SubClassOf 'Spinal muscular atrophy associated with central nervous system anomaly' http://www.orpha.net/ORDO/Orphanet_2549 Oculoauriculovertebral spectrum with radial defects 'Oculoauriculovertebral spectrum with radial defects' SubClassOf 'Dysostosis with predominant craniofacial involvement' 'Oculoauriculovertebral spectrum with radial defects' SubClassOf 'Dysostosis of genetic origin' 'Oculoauriculovertebral spectrum with radial defects' SubClassOf 'Dysostosis with predominant craniofacial involvement' http://www.orpha.net/ORDO/Orphanet_2802 X-linked sideroblastic anemia with ataxia 'X-linked sideroblastic anemia with ataxia' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/OBI_0000697 Helicos sequencing 'Helicos sequencing' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'Helicos sequencing' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://purl.obolibrary.org/obo/OBI_0000659 specimen collection process 'specimen collection process' SubClassOf 'has_output' some 'specimen' http://purl.obolibrary.org/obo/OBI_0000724 Illumina sequencing 'Illumina sequencing' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'Illumina sequencing' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.orpha.net/ORDO/Orphanet_2840 Pelvic dysplasia - arthrogryposis of lower limbs 'Pelvic dysplasia - arthrogryposis of lower limbs' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'Pelvic dysplasia - arthrogryposis of lower limbs' SubClassOf 'Dysostosis of genetic origin' 'Pelvic dysplasia - arthrogryposis of lower limbs' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' http://www.orpha.net/ORDO/Orphanet_71528 Obesity due to prohormone convertase I deficiency 'Obesity due to prohormone convertase I deficiency' SubClassOf 'Hypogonadotropic hypogonadism associated with other endocrinopathies' 'Obesity due to prohormone convertase I deficiency' SubClassOf 'Hypogonadotropic hypogonadism associated with other endocrinopathies' http://www.ebi.ac.uk/efo/EFO_1001452 Yellow Nail Syndrome 'Yellow Nail Syndrome' SubClassOf 'primary lymphedema with associated anomalies' http://purl.obolibrary.org/obo/OBI_0000869 polyA RNA 'polyA RNA' SubClassOf 'specimen' http://purl.obolibrary.org/obo/OBI_0600015 group assignment 'group assignment' SubClassOf 'has_input' some 'organism' http://www.orpha.net/ORDO/Orphanet_2754 Joubert syndrome with orofaciodigital defect 'Joubert syndrome with orofaciodigital defect' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' http://www.orpha.net/ORDO/Orphanet_2769 Familial osteodysplasia, Anderson type 'Familial osteodysplasia, Anderson type' SubClassOf 'Dysostosis with predominant craniofacial involvement' 'Familial osteodysplasia, Anderson type' SubClassOf 'Dysostosis of genetic origin' 'Familial osteodysplasia, Anderson type' SubClassOf 'Dysostosis with predominant craniofacial involvement' http://www.orpha.net/ORDO/Orphanet_2759 Imperforate oropharynx - costo vetebral anomalies 'Imperforate oropharynx - costo vetebral anomalies' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'Imperforate oropharynx - costo vetebral anomalies' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'Imperforate oropharynx - costo vetebral anomalies' SubClassOf 'Dysostosis of genetic origin' http://purl.obolibrary.org/obo/OBI_0600002 tumor grading 'tumor grading' SubClassOf 'assay' 'tumor grading' SubClassOf 'has_input' some 'specimen' http://purl.obolibrary.org/obo/OBI_0600005 collecting specimen from organism 'collecting specimen from organism' SubClassOf 'has_input' some 'organism' 'collecting specimen from organism' SubClassOf 'has_output' some 'specimen' http://www.orpha.net/ORDO/Orphanet_2789 Lateral meningocele syndrome 'Lateral meningocele syndrome' SubClassOf 'Malformation of the neurenteric canal, spinal cord and column' 'Lateral meningocele syndrome' SubClassOf 'Malformation of the neurenteric canal, spinal cord and column' 'Lateral meningocele syndrome' SubClassOf 'Neural tube defect' http://purl.obolibrary.org/obo/OBI_0000070 assay 'assay' DisjointWith 'data transformation' http://purl.obolibrary.org/obo/HP_0003508 Proportionate short stature 'Proportionate short stature' SubClassOf 'Growth delay' 'Proportionate short stature' SubClassOf http://purl.obolibrary.org/obo/HP_0004322 http://purl.obolibrary.org/obo/HP_0003521 Disproportionate short-trunk short stature 'Disproportionate short-trunk short stature' SubClassOf 'Growth delay' 'Disproportionate short-trunk short stature' SubClassOf http://purl.obolibrary.org/obo/HP_0004322 http://www.orpha.net/ORDO/Orphanet_2254 Pontocerebellar hypoplasia type 1 'Pontocerebellar hypoplasia type 1' SubClassOf 'Spinal muscular atrophy associated with central nervous system anomaly' 'Pontocerebellar hypoplasia type 1' SubClassOf 'Spinal muscular atrophy associated with central nervous system anomaly' 'Pontocerebellar hypoplasia type 1' SubClassOf 'Bulbospinal muscular atrophy' http://www.orpha.net/ORDO/Orphanet_2207 Familial primary hyperparathyroidism 'Familial primary hyperparathyroidism' SubClassOf 'primary hyperparathyroidism (disease)' 'Familial primary hyperparathyroidism' EquivalentTo 'primary hyperparathyroidism (disease)' and ('has modifier' some 'inherited') 'Familial primary hyperparathyroidism' EquivalentTo 'primary hyperparathyroidism' and ('has modifier' some 'inherited') 'Familial primary hyperparathyroidism' SubClassOf 'primary hyperparathyroidism' http://www.orpha.net/ORDO/Orphanet_2077 German syndrome 'German syndrome' SubClassOf 'primary lymphedema with associated anomalies' 'German syndrome' SubClassOf 'Primary lymphedema' http://www.orpha.net/ORDO/Orphanet_97556 Congenital and infantile nephrotic syndrome 'Congenital and infantile nephrotic syndrome' SubClassOf 'familial nephrotic syndrome' 'Congenital and infantile nephrotic syndrome' SubClassOf 'Primary glomerular disease' 'Congenital and infantile nephrotic syndrome' SubClassOf 'nephrotic syndrome' 'Congenital and infantile nephrotic syndrome' SubClassOf 'Primary glomerular disease' http://www.orpha.net/ORDO/Orphanet_2066 Gamma-aminobutyric acid transaminase deficiency 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf 'metabolic neurotransmission anomaly with epilepsy' 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf 'metabolic disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_2062 Progressive non-infectious anterior vertebral fusion 'Progressive non-infectious anterior vertebral fusion' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'Progressive non-infectious anterior vertebral fusion' SubClassOf 'Dysostosis of genetic origin' 'Progressive non-infectious anterior vertebral fusion' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' http://www.orpha.net/ORDO/Orphanet_2136 Hennekam syndrome 'Hennekam syndrome' SubClassOf 'primary lymphedema with associated anomalies' http://www.orpha.net/ORDO/Orphanet_193 Cohen syndrome 'Cohen syndrome' SubClassOf 'Constitutional neutropenia with extra-haematopoietic manifestations' 'Cohen syndrome' SubClassOf 'Constitutional neutropenia' 'Cohen syndrome' SubClassOf 'Constitutional neutropenia with extra-haematopoietic manifestations' http://www.orpha.net/ORDO/Orphanet_190 Coats disease 'Coats disease' SubClassOf 'Secondary glaucoma due to a proliferation and differentiation anomaly' 'Coats disease' SubClassOf 'Secondary glaucoma due to a proliferation and differentiation anomaly' 'Coats disease' SubClassOf 'Secondary dysgenetic glaucoma' http://www.orpha.net/ORDO/Orphanet_100 Ataxia-telangiectasia 'Ataxia-telangiectasia' SubClassOf 'Developmental anomaly of metabolic origin' 'Ataxia-telangiectasia' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_111 Barth syndrome 'Barth syndrome' SubClassOf 'Constitutional neutropenia with extra-haematopoietic manifestations' 'Barth syndrome' SubClassOf 'Constitutional neutropenia with extra-haematopoietic manifestations' 'Barth syndrome' SubClassOf 'Constitutional neutropenia' http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation 'Congenital disorder of glycosylation' SubClassOf 'realized_in' some ('disease course' and ('has_part' some 'glycosylation')) 'Congenital disorder of glycosylation' EquivalentTo 'realized_in' some ('disease course' and ('has_part' some 'glycosylation')) 'Congenital disorder of glycosylation' EquivalentTo http://purl.obolibrary.org/obo/BFO_0000054 some ('disease course' and ('has_part' some 'glycosylation')) 'Congenital disorder of glycosylation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000054 some ('disease course' and ('has_part' some 'glycosylation')) http://www.orpha.net/ORDO/Orphanet_136 CADASIL 'CADASIL' SubClassOf 'Nervous system anomaly with eye involvement' 'CADASIL' SubClassOf 'Genetic neuro-ophthalmological disease' 'CADASIL' SubClassOf 'Nervous system anomaly with eye involvement' http://www.orpha.net/ORDO/Orphanet_2390 Lichstenstein syndrome 'Lichstenstein syndrome' SubClassOf 'Constitutional neutropenia with extra-haematopoietic manifestations' 'Lichstenstein syndrome' SubClassOf 'Constitutional neutropenia with extra-haematopoietic manifestations' 'Lichstenstein syndrome' SubClassOf 'Constitutional neutropenia' http://www.orpha.net/ORDO/Orphanet_167 Chédiak-Higashi syndrome 'Chédiak-Higashi syndrome' SubClassOf 'Constitutional neutropenia with extra-haematopoietic manifestations' 'Chédiak-Higashi syndrome' SubClassOf 'Constitutional neutropenia with extra-haematopoietic manifestations' 'Chédiak-Higashi syndrome' SubClassOf 'Constitutional neutropenia' http://www.orpha.net/ORDO/Orphanet_2482 Melhem-Fahl syndrome 'Melhem-Fahl syndrome' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'Melhem-Fahl syndrome' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'Melhem-Fahl syndrome' SubClassOf 'Dysostosis of genetic origin' http://www.orpha.net/ORDO/Orphanet_207 Crouzon disease 'Crouzon disease' SubClassOf 'Craniostenosis associated with a strabismus' 'Crouzon disease' SubClassOf 'Syndrome with a symptomatic strabismus' 'Crouzon disease' SubClassOf 'Craniostenosis associated with a strabismus' http://www.orpha.net/ORDO/Orphanet_2414 Congenital pulmonary lymphangiectasia 'Congenital pulmonary lymphangiectasia' SubClassOf 'primary lymphedema with associated anomalies' 'Congenital pulmonary lymphangiectasia' SubClassOf 'Primary lymphedema' http://www.orpha.net/ORDO/Orphanet_357158 Mandibulofacial dysostosis - macroblepharon - macrostomia 'Mandibulofacial dysostosis - macroblepharon - macrostomia' SubClassOf 'Dysostosis with predominant craniofacial involvement' 'Mandibulofacial dysostosis - macroblepharon - macrostomia' SubClassOf 'Dysostosis of genetic origin' 'Mandibulofacial dysostosis - macroblepharon - macrostomia' SubClassOf 'Dysostosis with predominant craniofacial involvement' http://www.ebi.ac.uk/efo/EFO_1001006 Klinefelter's syndrome 'Klinefelter's syndrome' SubClassOf 'X chromosome number anomaly with male phenotype' 'Klinefelter's syndrome' SubClassOf 'X chromosome number anomaly' http://www.orpha.net/ORDO/Orphanet_2274 Ichthyosis - hepatosplenomegaly - cerebellar degeneration 'Ichthyosis - hepatosplenomegaly - cerebellar degeneration' SubClassOf 'Rare genetic tremor disorder' 'Ichthyosis - hepatosplenomegaly - cerebellar degeneration' SubClassOf 'Genetic neurodegenerative disease' 'Ichthyosis - hepatosplenomegaly - cerebellar degeneration' SubClassOf 'Rare genetic movement disorder' http://www.ebi.ac.uk/efo/EFO_0008075 cation-independent mannose-6-phosphate receptor measurement 'cation-independent mannose-6-phosphate receptor measurement' SubClassOf http://www.ebi.ac.uk/efo/EFO_0010968 http://www.orpha.net/ORDO/Orphanet_2318 Joubert syndrome with oculorenal defect 'Joubert syndrome with oculorenal defect' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' http://www.orpha.net/ORDO/Orphanet_2311 Autosomal recessive spondylocostal dysostosis 'Autosomal recessive spondylocostal dysostosis' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'Autosomal recessive spondylocostal dysostosis' SubClassOf 'Dysostosis of genetic origin' 'Autosomal recessive spondylocostal dysostosis' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' http://www.orpha.net/ORDO/Orphanet_2345 Isolated Klippel-Feil syndrome 'Isolated Klippel-Feil syndrome' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' http://www.orpha.net/ORDO/Orphanet_354 GM1 gangliosidosis 'GM1 gangliosidosis' SubClassOf 'Nervous system anomaly with eye involvement' 'GM1 gangliosidosis' SubClassOf 'Nervous system anomaly with eye involvement' 'GM1 gangliosidosis' SubClassOf 'Genetic neuro-ophthalmological disease' http://www.orpha.net/ORDO/Orphanet_379 Chronic granulomatous disease 'Chronic granulomatous disease' SubClassOf 'Metabolic disease with intestinal involvement' http://www.orpha.net/ORDO/Orphanet_254343 Autosomal recessive spastic ataxia - optic atrophy - dysarthria 'Autosomal recessive spastic ataxia - optic atrophy - dysarthria' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_183500 Genetic neurodegenerative disease 'Genetic neurodegenerative disease' SubClassOf 'realized_in' some ('disease course' and ('has_part' some 'Neurodegeneration')) 'Genetic neurodegenerative disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000054 some ('disease course' and ('has_part' some 'Neurodegeneration')) http://www.orpha.net/ORDO/Orphanet_428 Autosomal dominant hypocalcemia 'Autosomal dominant hypocalcemia' SubClassOf 'realized_in' some ('disease course' and ('has_part' some 'calcium ion homeostasis')) 'Autosomal dominant hypocalcemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000054 some ('disease course' and ('has_part' some 'calcium ion homeostasis')) http://www.orpha.net/ORDO/Orphanet_268882 Arnold-Chiari malformation type I 'Arnold-Chiari malformation type I' SubClassOf 'Malformation of the neurenteric canal, spinal cord and column' 'Arnold-Chiari malformation type I' SubClassOf 'Malformation of the neurenteric canal, spinal cord and column' 'Arnold-Chiari malformation type I' SubClassOf 'Neural tube defect' http://www.orpha.net/ORDO/Orphanet_250 Frontonasal dysplasia 'Frontonasal dysplasia' SubClassOf 'Dysostosis with predominant craniofacial involvement' 'Frontonasal dysplasia' SubClassOf 'Dysostosis with predominant craniofacial involvement' 'Frontonasal dysplasia' SubClassOf 'Dysostosis of genetic origin' http://www.orpha.net/ORDO/Orphanet_268865 Neurenteric cyst 'Neurenteric cyst' SubClassOf 'Malformation of the neurenteric canal, spinal cord and column' 'Neurenteric cyst' SubClassOf 'Malformation of the neurenteric canal, spinal cord and column' 'Neurenteric cyst' SubClassOf 'Neural tube defect' http://www.orpha.net/ORDO/Orphanet_268868 Isolated amyelia 'Isolated amyelia' SubClassOf 'Malformation of the neurenteric canal, spinal cord and column' 'Isolated amyelia' SubClassOf 'Malformation of the neurenteric canal, spinal cord and column' 'Isolated amyelia' SubClassOf 'Neural tube defect' http://www.orpha.net/ORDO/Orphanet_268861 Primary tethered chord syndrome 'Primary tethered chord syndrome' SubClassOf 'Malformation of the neurenteric canal, spinal cord and column' 'Primary tethered chord syndrome' SubClassOf 'Neural tube defect' 'Primary tethered chord syndrome' SubClassOf 'Malformation of the neurenteric canal, spinal cord and column' http://www.orpha.net/ORDO/Orphanet_268838 Leptomyelolipoma 'Leptomyelolipoma' SubClassOf 'Lipoma associated with neurospinal dysraphism' 'Leptomyelolipoma' SubClassOf 'Lipoma associated with neurospinal dysraphism' 'Leptomyelolipoma' SubClassOf 'Neural tube closure defect' http://www.orpha.net/ORDO/Orphanet_268843 Malformation of the neurenteric canal, spinal cord and column 'Malformation of the neurenteric canal, spinal cord and column' SubClassOf 'Neural tube defect' 'Malformation of the neurenteric canal, spinal cord and column' SubClassOf 'Neural tube defect' http://www.orpha.net/ORDO/Orphanet_268832 Lipoma associated with neurospinal dysraphism 'Lipoma associated with neurospinal dysraphism' SubClassOf 'Neural tube closure defect' 'Lipoma associated with neurospinal dysraphism' SubClassOf 'Neural tube closure defect' http://www.orpha.net/ORDO/Orphanet_268835 Lipomyelomeningocele 'Lipomyelomeningocele' SubClassOf 'Lipoma associated with neurospinal dysraphism' 'Lipomyelomeningocele' SubClassOf 'Lipoma associated with neurospinal dysraphism' 'Lipomyelomeningocele' SubClassOf 'Neural tube closure defect' http://www.orpha.net/ORDO/Orphanet_313 Lamellar ichthyosis 'Lamellar ichthyosis' SubClassOf 'Ichthyosis associated with ocular features' 'Lamellar ichthyosis' SubClassOf 'Ichthyosis associated with ocular features' 'Lamellar ichthyosis' SubClassOf 'Genetic keratinization disorder associated with ocular features' http://www.orpha.net/ORDO/Orphanet_308 Unverricht-Lundborg disease 'Unverricht-Lundborg disease' SubClassOf 'Progressive epilepsy and/or ataxia with myoclonus as a major feature' 'Unverricht-Lundborg disease' SubClassOf 'rare disease with myoclonus as a major feature' 'Unverricht-Lundborg disease' SubClassOf 'Progressive epilepsy and/or ataxia with myoclonus as a major feature' http://www.orpha.net/ORDO/Orphanet_307 Juvenile myoclonic epilepsy 'Juvenile myoclonic epilepsy' SubClassOf 'Non progressive epilepsy and/or ataxia with myoclonus as a major feature' 'Juvenile myoclonic epilepsy' SubClassOf 'Non progressive epilepsy and/or ataxia with myoclonus as a major feature' 'Juvenile myoclonic epilepsy' SubClassOf 'rare disease with myoclonus as a major feature' http://www.orpha.net/ORDO/Orphanet_324 Fabry disease 'Fabry disease' SubClassOf 'sphingolipidosis with epilepsy' 'Fabry disease' SubClassOf 'lysosomal disease with epilepsy' 'Fabry disease' SubClassOf 'Sphingolipidosis' http://www.orpha.net/ORDO/Orphanet_333 Farber lipogranulomatosis 'Farber lipogranulomatosis' SubClassOf 'sphingolipidosis with epilepsy' 'Farber lipogranulomatosis' SubClassOf 'lysosomal disease with epilepsy' 'Farber lipogranulomatosis' SubClassOf 'Sphingolipidosis' http://purl.obolibrary.org/obo/MONDO_0020802 obsolete basal cell cancer 'obsolete basal cell cancer' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_585 Multiple sulfatase deficiency 'Multiple sulfatase deficiency' SubClassOf 'sphingolipidosis with epilepsy' 'Multiple sulfatase deficiency' SubClassOf 'Sphingolipidosis' 'Multiple sulfatase deficiency' SubClassOf 'lysosomal disease with epilepsy' http://www.ebi.ac.uk/efo/EFO_0003741 pooled clone sequencing 'pooled clone sequencing' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'pooled clone sequencing' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0003742 clone by clone sequencing 'clone by clone sequencing' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'clone by clone sequencing' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0003745 random chromosome sequencing 'random chromosome sequencing' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'random chromosome sequencing' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0003746 random exon sequencing 'random exon sequencing' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'random exon sequencing' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0003743 clone end sequencing 'clone end sequencing' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'clone end sequencing' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0003744 whole genome shotgun sequencing 'whole genome shotgun sequencing' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'whole genome shotgun sequencing' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.orpha.net/ORDO/Orphanet_183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency 'Recurrent infections associated with rare immunoglobulin isotypes deficiency' SubClassOf 'Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells' 'Recurrent infections associated with rare immunoglobulin isotypes deficiency' SubClassOf 'Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells' 'Recurrent infections associated with rare immunoglobulin isotypes deficiency' SubClassOf 'Immunodeficiency predominantly affecting antibody production' http://www.ebi.ac.uk/efo/EFO_0003749 MeDIP-seq 'MeDIP-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'MeDIP-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0003747 amplicon sequencing 'amplicon sequencing' SubClassOf 'realizes' some (('analyte role' and ('role_of' some 'DNA')) or ('analyte role' and ('role_of' some 'RNA'))) 'amplicon sequencing' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some (('analyte role' and ('role_of' some 'DNA')) or ('analyte role' and ('role_of' some 'RNA'))) http://www.ebi.ac.uk/efo/EFO_0003748 MRE-seq 'MRE-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'MRE-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.orpha.net/ORDO/Orphanet_183678 Hermansky-Pudlak syndrome with neutropenia 'Hermansky-Pudlak syndrome with neutropenia' SubClassOf 'Constitutional neutropenia with extra-haematopoietic manifestations' 'Hermansky-Pudlak syndrome with neutropenia' SubClassOf 'Constitutional neutropenia' 'Hermansky-Pudlak syndrome with neutropenia' SubClassOf 'Constitutional neutropenia with extra-haematopoietic manifestations' http://purl.obolibrary.org/obo/MONDO_0017264 syndromic recessive X-linked ichthyosis 'syndromic recessive X-linked ichthyosis' SubClassOf 'Syndromic ichthyosis associated with ocular features' 'syndromic recessive X-linked ichthyosis' SubClassOf 'Ichthyosis associated with ocular features' http://www.orpha.net/ORDO/Orphanet_634 Netherton syndrome 'Netherton syndrome' SubClassOf 'Syndromic ichthyosis associated with ocular features' 'Netherton syndrome' SubClassOf 'Genetic keratinization disorder associated with ocular features' 'Netherton syndrome' SubClassOf 'Ichthyosis associated with ocular features' http://www.orpha.net/ORDO/Orphanet_646 Niemann-Pick disease type C 'Niemann-Pick disease type C' SubClassOf 'realized_in' some ('disease course' and ('has_part' some 'microtubule-associated protein tau')) 'Niemann-Pick disease type C' SubClassOf http://purl.obolibrary.org/obo/BFO_0000054 some ('disease course' and ('has_part' some 'microtubule-associated protein tau')) http://www.orpha.net/ORDO/Orphanet_636 Neurofibromatosis type 1 'Neurofibromatosis type 1' SubClassOf 'Phakomatosis with eye involvement' 'Neurofibromatosis type 1' SubClassOf 'Phakomatosis with eye involvement' 'Neurofibromatosis type 1' SubClassOf 'Genodermatosis with ocular features' http://www.orpha.net/ORDO/Orphanet_648 Noonan syndrome 'Noonan syndrome' SubClassOf 'primary lymphedema with associated anomalies' http://www.orpha.net/ORDO/Orphanet_665 Albright hereditary osteodystrophy 'Albright hereditary osteodystrophy' SubClassOf 'pseudohypoparathyroidism with Albright hereditary osteodystrophy' 'Albright hereditary osteodystrophy' SubClassOf 'dermis disease' 'Albright hereditary osteodystrophy' SubClassOf 'Pseudohypoparathyroidism' 'Albright hereditary osteodystrophy' SubClassOf 'Musculoskeletal disease with cataract' 'Albright hereditary osteodystrophy' SubClassOf 'genetic skin disease' 'Albright hereditary osteodystrophy' SubClassOf 'other genetic dermis disorder' 'Albright hereditary osteodystrophy' SubClassOf 'Syndromic obesity' 'Albright hereditary osteodystrophy' SubClassOf 'Acromelic dysplasia' http://www.orpha.net/ORDO/Orphanet_664 Ornithine transcarbamylase deficiency 'Ornithine transcarbamylase deficiency' SubClassOf 'Disorder of urea cycle metabolism and ammonia detoxification' 'Ornithine transcarbamylase deficiency' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' 'Ornithine transcarbamylase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_683 Progressive supranuclear palsy 'Progressive supranuclear palsy' SubClassOf 'realized_in' some ('disease course' and ('has_part' some 'microtubule-associated protein tau')) 'Progressive supranuclear palsy' SubClassOf http://purl.obolibrary.org/obo/BFO_0000054 some ('disease course' and ('has_part' some 'microtubule-associated protein tau')) http://www.orpha.net/ORDO/Orphanet_699 Pearson syndrome 'Pearson syndrome' SubClassOf 'Constitutional neutropenia with extra-haematopoietic manifestations' 'Pearson syndrome' SubClassOf 'Constitutional neutropenia' 'Pearson syndrome' SubClassOf 'Constitutional neutropenia with extra-haematopoietic manifestations' http://www.ebi.ac.uk/efo/EFO_0001030 RNAi profiling by array 'RNAi profiling by array' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'RNAi profiling by array' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0001032 transcription profiling 'transcription profiling' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'transcription profiling' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0001031 tiling path by array 'tiling path by array' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'tiling path by array' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0001033 translation profiling 'translation profiling' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'translation profiling' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0001069 nutritional disorder 'nutritional disorder' SubClassOf 'realized_in' some ('disease course' and ('has_part' some 'metabolic process')) 'nutritional disorder' SubClassOf http://purl.obolibrary.org/obo/BFO_0000054 some ('disease course' and ('has_part' some 'metabolic process')) http://www.orpha.net/ORDO/Orphanet_171709 Male infertility due to globozoospermia 'Male infertility due to globozoospermia' SubClassOf 'realized_in' some ('disease course' and ('has_quality' some 'abnormal') and ('has_disease_location' some 'sperm')) 'Male infertility due to globozoospermia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000054 some ('disease course' and ('has_quality' some 'abnormal') and ('has_disease_location' some 'sperm')) http://www.orpha.net/ORDO/Orphanet_352641 Autosomal recessive cerebellar ataxia with late-onset spasticity 'Autosomal recessive cerebellar ataxia with late-onset spasticity' SubClassOf 'Developmental anomaly of metabolic origin' http://www.orpha.net/ORDO/Orphanet_93976 Anotia 'Anotia' SubClassOf 'pinnae and external auditory canal anomaly' 'Anotia' SubClassOf 'genetic otorhinolaryngological malformation' 'Anotia' SubClassOf 'Rare otorhinolaryngological malformation' http://www.orpha.net/ORDO/Orphanet_461 Recessive X-linked ichthyosis 'Recessive X-linked ichthyosis' SubClassOf 'Syndromic ichthyosis associated with ocular features' 'Recessive X-linked ichthyosis' SubClassOf 'Ichthyosis associated with ocular features' http://www.orpha.net/ORDO/Orphanet_477 KID syndrome 'KID syndrome' SubClassOf 'Syndromic ichthyosis associated with ocular features' 'KID syndrome' SubClassOf 'Syndromic ichthyosis associated with ocular features' http://purl.obolibrary.org/obo/MONDO_0044714 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome 'mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome' SubClassOf 'Rare genetic movement disorder' 'mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome' SubClassOf 'congenital nervous system disorder' 'mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome' SubClassOf 'Genetic neurodegenerative disease' 'mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome' SubClassOf 'Rare genetic tremor disorder' http://www.orpha.net/ORDO/Orphanet_487 Krabbe disease 'Krabbe disease' SubClassOf 'sphingolipidosis with epilepsy' 'Krabbe disease' SubClassOf 'lysosomal disease with epilepsy' 'Krabbe disease' SubClassOf 'Sphingolipidosis' http://www.orpha.net/ORDO/Orphanet_501 Lafora disease 'Lafora disease' SubClassOf 'Progressive epilepsy and/or ataxia with myoclonus as a major feature' 'Lafora disease' SubClassOf 'Progressive epilepsy and/or ataxia with myoclonus as a major feature' 'Lafora disease' SubClassOf 'rare disease with myoclonus as a major feature' http://purl.obolibrary.org/obo/MONDO_0029144 extraoral halitosis due to methanethiol oxidase deficiency 'extraoral halitosis due to methanethiol oxidase deficiency' SubClassOf 'Inborn errors of metabolism' 'extraoral halitosis due to methanethiol oxidase deficiency' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_512 Metachromatic leukodystrophy 'Metachromatic leukodystrophy' SubClassOf 'sphingolipidosis with epilepsy' 'Metachromatic leukodystrophy' SubClassOf 'lysosomal disease with epilepsy' 'Metachromatic leukodystrophy' SubClassOf 'Sphingolipidosis' http://www.orpha.net/ORDO/Orphanet_559 Marinesco-Sjögren syndrome 'Marinesco-Sjögren syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/HP_0011110 Tonsillitis 'Tonsillitis' SubClassOf 'Recurrent infections' http://www.orpha.net/ORDO/Orphanet_93262 Crouzon syndrome - acanthosis nigricans 'Crouzon syndrome - acanthosis nigricans' SubClassOf 'Craniostenosis associated with a strabismus' 'Crouzon syndrome - acanthosis nigricans' SubClassOf 'Syndrome with a symptomatic strabismus' 'Crouzon syndrome - acanthosis nigricans' SubClassOf 'Craniostenosis associated with a strabismus' http://www.orpha.net/ORDO/Orphanet_861 Treacher-Collins syndrome 'Treacher-Collins syndrome' SubClassOf 'Dysostosis with predominant craniofacial involvement' 'Treacher-Collins syndrome' SubClassOf 'Dysostosis of genetic origin' 'Treacher-Collins syndrome' SubClassOf 'Dysostosis with predominant craniofacial involvement' http://www.orpha.net/ORDO/Orphanet_881 Turner syndrome 'Turner syndrome' SubClassOf 'X chromosome number anomaly with female phenotype' 'Turner syndrome' SubClassOf 'X chromosome number anomaly' 'Turner syndrome' SubClassOf 'X chromosome number anomaly with female phenotype' http://www.orpha.net/ORDO/Orphanet_818 Smith-Lemli-Opitz syndrome 'Smith-Lemli-Opitz syndrome' SubClassOf 'Craniofacial anomaly with cataract' 'Smith-Lemli-Opitz syndrome' SubClassOf 'Systemic disease with cataract' 'Smith-Lemli-Opitz syndrome' SubClassOf 'Craniofacial anomaly with cataract' http://www.orpha.net/ORDO/Orphanet_816 Sjögren-Larsson syndrome 'Sjögren-Larsson syndrome' SubClassOf 'Syndromic ichthyosis associated with ocular features' 'Sjögren-Larsson syndrome' SubClassOf 'Syndromic ichthyosis associated with ocular features' http://www.orpha.net/ORDO/Orphanet_68336 Rare genetic tumor 'Rare genetic tumor' SubClassOf 'realized_in' some ('disease course' and (('has_part' some 'cell population proliferation') and ('bearer_of' some 'abnormal'))) 'Rare genetic tumor' SubClassOf http://purl.obolibrary.org/obo/BFO_0000054 some ('disease course' and (('has_part' some 'cell population proliferation') and ('bearer_of' some 'abnormal'))) http://www.orpha.net/ORDO/Orphanet_839 Congenital nephrotic syndrome, Finnish type 'Congenital nephrotic syndrome, Finnish type' SubClassOf 'Congenital and infantile nephrotic syndrome' 'Congenital nephrotic syndrome, Finnish type' SubClassOf 'Congenital and infantile nephrotic syndrome' 'Congenital nephrotic syndrome, Finnish type' SubClassOf 'Primary glomerular disease' http://www.orpha.net/ORDO/Orphanet_313772 Early-onset spastic ataxia-neuropathy syndrome 'Early-onset spastic ataxia-neuropathy syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_95700 Familial adrenal hypoplasia with absent pituitary luteinizing hormone 'Familial adrenal hypoplasia with absent pituitary luteinizing hormone' SubClassOf 'Hypogonadotropic hypogonadism associated with other endocrinopathies' 'Familial adrenal hypoplasia with absent pituitary luteinizing hormone' SubClassOf 'Hypogonadotropic hypogonadism associated with other endocrinopathies' 'Familial adrenal hypoplasia with absent pituitary luteinizing hormone' SubClassOf 'Congenital hypogonadotropic hypogonadism' 'Familial adrenal hypoplasia with absent pituitary luteinizing hormone' SubClassOf 'Rare female infertility due to a congenital hypogonadotropic hypogonadism' http://www.orpha.net/ORDO/Orphanet_95702 Cytomegalic congenital adrenal hypoplasia 'Cytomegalic congenital adrenal hypoplasia' SubClassOf 'Hypogonadotropic hypogonadism associated with other endocrinopathies' 'Cytomegalic congenital adrenal hypoplasia' SubClassOf 'Hypogonadotropic hypogonadism associated with other endocrinopathies' 'Cytomegalic congenital adrenal hypoplasia' SubClassOf 'Congenital hypogonadotropic hypogonadism' 'Cytomegalic congenital adrenal hypoplasia' SubClassOf 'Rare female infertility due to a congenital hypogonadotropic hypogonadism' http://www.orpha.net/ORDO/Orphanet_276058 Genetic neurodegenerative disease with dementia 'Genetic neurodegenerative disease with dementia' SubClassOf 'realized_in' some ('disease course' and ('has_part' some 'Neurodegeneration')) 'Genetic neurodegenerative disease with dementia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000054 some ('disease course' and ('has_part' some 'Neurodegeneration')) http://www.ebi.ac.uk/efo/EFO_0003846 urethral neoplasm 'urethral neoplasm' SubClassOf 'neoplasm' 'urethral neoplasm' SubClassOf 'urinary system neoplasm' 'urethral neoplasm' SubClassOf 'urethral disease' http://www.ebi.ac.uk/efo/EFO_0003859 uterine neoplasm 'uterine neoplasm' SubClassOf 'female reproductive system disease' 'uterine neoplasm' SubClassOf 'urogenital neoplasm' 'uterine neoplasm' SubClassOf 'female reproductive system neoplasm' 'uterine neoplasm' SubClassOf 'uterine disease' http://www.ebi.ac.uk/efo/EFO_0003752 DNase-hypersensitivity seq 'DNase-hypersensitivity seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'DNase-hypersensitivity seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0003753 Bisulfite-seq 'Bisulfite-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'Bisulfite-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0003750 MBD-seq 'MBD-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'MBD-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0003751 MNase-seq 'MNase-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'MNase-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0003754 EST sequencing 'EST sequencing' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'EST sequencing' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0003755 FL-cDNA 'FL-cDNA' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'FL-cDNA' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0003782 motor neuron disease 'motor neuron disease' SubClassOf 'realized_in' some ('disease course' and ('has_part' some 'Neurodegeneration')) 'motor neuron disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000054 some ('disease course' and ('has_part' some 'Neurodegeneration')) http://www.orpha.net/ORDO/Orphanet_773 Refsum disease 'Refsum disease' SubClassOf 'Developmental anomaly of metabolic origin' 'Refsum disease' SubClassOf 'Syndromic ichthyosis associated with ocular features' 'Refsum disease' SubClassOf 'Genetic non-syndromic central nervous system malformation' 'Refsum disease' SubClassOf 'Syndromic ichthyosis associated with ocular features' http://www.orpha.net/ORDO/Orphanet_772 Infantile Refsum disease 'Infantile Refsum disease' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0003778 psoriatic arthritis 'psoriatic arthritis' SubClassOf 'inherited disease susceptibility' 'psoriatic arthritis' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_794 Saethre-Chotzen syndrome 'Saethre-Chotzen syndrome' SubClassOf 'Craniostenosis associated with a strabismus' 'Saethre-Chotzen syndrome' SubClassOf 'Syndrome with a symptomatic strabismus' 'Saethre-Chotzen syndrome' SubClassOf 'Craniostenosis associated with a strabismus' http://www.orpha.net/ORDO/Orphanet_710 Pfeiffer syndrome 'Pfeiffer syndrome' SubClassOf 'Craniostenosis associated with a strabismus' 'Pfeiffer syndrome' SubClassOf 'Craniostenosis associated with a strabismus' 'Pfeiffer syndrome' SubClassOf 'Syndrome with a symptomatic strabismus' http://www.orpha.net/ORDO/Orphanet_93453 Dysostosis with predominant craniofacial involvement 'Dysostosis with predominant craniofacial involvement' SubClassOf 'Dysostosis of genetic origin' 'Dysostosis with predominant craniofacial involvement' SubClassOf 'Dysostosis of genetic origin' http://www.orpha.net/ORDO/Orphanet_93451 Cleidocranial dysplasia and isolated cranial ossification defect 'Cleidocranial dysplasia and isolated cranial ossification defect' SubClassOf 'Primary bone dysplasia' 'Cleidocranial dysplasia and isolated cranial ossification defect' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_93454 Dysostosis with predominant vertebral and costal involvement 'Dysostosis with predominant vertebral and costal involvement' SubClassOf 'Dysostosis of genetic origin' 'Dysostosis with predominant vertebral and costal involvement' SubClassOf 'Dysostosis of genetic origin' http://purl.obolibrary.org/obo/HP_0011398 Central hypotonia 'Central hypotonia' SubClassOf 'Abnormal central motor function' 'Central hypotonia' SubClassOf 'Abnormal muscle physiology' 'Central hypotonia' SubClassOf 'Abnormal muscle tone' 'Central hypotonia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001456 DNA assay 'DNA assay' EquivalentTo 'assay' and ('realizes' some ('analyte role' and ('role_of' some 'DNA'))) 'DNA assay' EquivalentTo 'assay' and (http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA'))) http://www.ebi.ac.uk/efo/EFO_0001458 protein assay 'protein assay' EquivalentTo 'assay' and ('realizes' some ('analyte role' and ('role_of' some 'protein'))) 'protein assay' EquivalentTo 'assay' and (http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'protein'))) http://www.ebi.ac.uk/efo/EFO_0001457 RNA assay 'RNA assay' EquivalentTo 'assay' and ('realizes' some ('analyte role' and ('role_of' some 'RNA'))) 'RNA assay' EquivalentTo 'assay' and (http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA'))) http://purl.obolibrary.org/obo/MONDO_0019487 epilepsy with myoclonic absences 'epilepsy with myoclonic absences' SubClassOf 'Non progressive epilepsy and/or ataxia with myoclonus as a major feature' 'epilepsy with myoclonic absences' SubClassOf 'rare disease with myoclonus as a major feature' http://www.orpha.net/ORDO/Orphanet_68367 Inborn errors of metabolism 'Inborn errors of metabolism' SubClassOf 'realized_in' some ('disease course' and ('has_part' some 'metabolic process')) 'Inborn errors of metabolism' SubClassOf http://purl.obolibrary.org/obo/BFO_0000054 some ('disease course' and ('has_part' some 'metabolic process')) http://purl.obolibrary.org/obo/MONDO_0010920 microtia 'microtia' SubClassOf 'pinnae and external auditory canal anomaly' 'microtia' SubClassOf 'genetic otorhinolaryngological malformation' 'microtia' SubClassOf 'Rare otorhinolaryngological malformation' http://www.orpha.net/ORDO/Orphanet_181390 Hypogonadotropic hypogonadism associated with other endocrinopathies 'Hypogonadotropic hypogonadism associated with other endocrinopathies' SubClassOf 'Rare female infertility due to a congenital hypogonadotropic hypogonadism' 'Hypogonadotropic hypogonadism associated with other endocrinopathies' SubClassOf 'Congenital hypogonadotropic hypogonadism' 'Hypogonadotropic hypogonadism associated with other endocrinopathies' SubClassOf 'Rare female infertility due to a congenital hypogonadotropic hypogonadism' 'Hypogonadotropic hypogonadism associated with other endocrinopathies' SubClassOf 'Congenital hypogonadotropic hypogonadism' http://www.ebi.ac.uk/efo/EFO_0001357 sporadic amyotrophic lateral sclerosis 'sporadic amyotrophic lateral sclerosis' SubClassOf 'realized_in' some ('disease course' and ('has_part' some 'Neurodegeneration')) 'sporadic amyotrophic lateral sclerosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000054 some ('disease course' and ('has_part' some 'Neurodegeneration')) http://www.ebi.ac.uk/efo/EFO_0001356 familial amyotrophic lateral sclerosis 'familial amyotrophic lateral sclerosis' SubClassOf 'realized_in' some ('disease course' and ('has_part' some 'Neurodegeneration')) 'familial amyotrophic lateral sclerosis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000054 some ('disease course' and ('has_part' some 'Neurodegeneration')) http://www.orpha.net/ORDO/Orphanet_252202 Constitutional mismatch repair deficiency syndrome 'Constitutional mismatch repair deficiency syndrome' SubClassOf 'DNA repair deficiency' 'Constitutional mismatch repair deficiency syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0031219 http://www.orpha.net/ORDO/Orphanet_254843 Exercise intolerance with lactic acidosis 'Exercise intolerance with lactic acidosis' SubClassOf 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' 'Exercise intolerance with lactic acidosis' SubClassOf 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' http://www.orpha.net/ORDO/Orphanet_910 Xeroderma pigmentosum 'Xeroderma pigmentosum' SubClassOf 'Developmental anomaly of metabolic origin' 'Xeroderma pigmentosum' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_909 Cerebrotendinous xanthomatosis 'Cerebrotendinous xanthomatosis' SubClassOf 'Developmental anomaly of metabolic origin' http://www.orpha.net/ORDO/Orphanet_912 Zellweger syndrome 'Zellweger syndrome' SubClassOf 'Craniofacial anomaly with cataract' 'Zellweger syndrome' SubClassOf 'Systemic disease with cataract' 'Zellweger syndrome' SubClassOf 'Craniofacial anomaly with cataract' http://purl.obolibrary.org/obo/MONDO_0001029 Klippel-Feil syndrome 'Klippel-Feil syndrome' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'Klippel-Feil syndrome' SubClassOf 'Dysostosis of genetic origin' http://www.ebi.ac.uk/efo/EFO_0004160 whole chromosome random sequencing 'whole chromosome random sequencing' SubClassOf 'transcription profiling by high throughput sequencing' 'whole chromosome random sequencing' SubClassOf 'assay by high throughput sequencer' 'whole chromosome random sequencing' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) 'whole chromosome random sequencing' SubClassOf 'DNA assay' http://www.ebi.ac.uk/efo/EFO_0004193 basal cell carcinoma 'basal cell carcinoma' SubClassOf 'basal cell carcinoma' 'basal cell carcinoma' SubClassOf 'obsolete basal cell cancer' 'basal cell carcinoma' SubClassOf 'skin squamous cell carcinoma' 'basal cell carcinoma' SubClassOf 'keratinocyte carcinoma' http://www.orpha.net/ORDO/Orphanet_306759 Non progressive epilepsy and/or ataxia with myoclonus as a major feature 'Non progressive epilepsy and/or ataxia with myoclonus as a major feature' SubClassOf 'Epilepsy and/or ataxia with myoclonus as major feature' 'Non progressive epilepsy and/or ataxia with myoclonus as a major feature' SubClassOf 'Epilepsy and/or ataxia with myoclonus as major feature' http://www.orpha.net/ORDO/Orphanet_306756 Epilepsy and/or ataxia with myoclonus as major feature 'Epilepsy and/or ataxia with myoclonus as major feature' SubClassOf 'rare disease with myoclonus as a major feature' 'Epilepsy and/or ataxia with myoclonus as major feature' SubClassOf 'Rare genetic disease with myoclonus as a major feature' http://www.orpha.net/ORDO/Orphanet_306719 Neurodegenerative disease with chorea 'Neurodegenerative disease with chorea' SubClassOf 'realized_in' some ('disease course' and ('has_part' some 'Neurodegeneration')) 'Neurodegenerative disease with chorea' SubClassOf http://purl.obolibrary.org/obo/BFO_0000054 some ('disease course' and ('has_part' some 'Neurodegeneration')) http://www.orpha.net/ORDO/Orphanet_137893 Male infertility due to large-headed multiflagellar polyploid spermatozoa 'Male infertility due to large-headed multiflagellar polyploid spermatozoa' SubClassOf 'realized_in' some ('disease course' and ('has_quality' some 'abnormal') and ('has_disease_location' some 'sperm')) 'Male infertility due to large-headed multiflagellar polyploid spermatozoa' SubClassOf http://purl.obolibrary.org/obo/BFO_0000054 some ('disease course' and ('has_quality' some 'abnormal') and ('has_disease_location' some 'sperm')) http://www.orpha.net/ORDO/Orphanet_306762 Progressive epilepsy and/or ataxia with myoclonus as a major feature 'Progressive epilepsy and/or ataxia with myoclonus as a major feature' SubClassOf 'Epilepsy and/or ataxia with myoclonus as major feature' 'Progressive epilepsy and/or ataxia with myoclonus as a major feature' SubClassOf 'variable age onset epilepsy' 'Progressive epilepsy and/or ataxia with myoclonus as a major feature' SubClassOf 'Epilepsy and/or ataxia with myoclonus as major feature' http://purl.obolibrary.org/obo/MONDO_0015502 pinnae and external auditory canal anomaly 'pinnae and external auditory canal anomaly' SubClassOf 'genetic otorhinolaryngological malformation' 'pinnae and external auditory canal anomaly' SubClassOf 'Rare otorhinolaryngological malformation' http://www.ebi.ac.uk/efo/EFO_0004144 acatalasia 'acatalasia' SubClassOf 'realized_in' some ('disease course' and ('has_part' some 'metabolic process')) 'acatalasia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000054 some ('disease course' and ('has_part' some 'metabolic process')) http://www.orpha.net/ORDO/Orphanet_316226 Spastic ataxia 'Spastic ataxia' SubClassOf 'Rare genetic tremor disorder' 'Spastic ataxia' SubClassOf 'Rare genetic movement disorder' 'Spastic ataxia' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_91494 Macular coloboma - cleft palate - hallux valgus 'Macular coloboma - cleft palate - hallux valgus' SubClassOf 'Colobomatous and areolar dystrophy' 'Macular coloboma - cleft palate - hallux valgus' SubClassOf 'Genetic macular dystrophy' 'Macular coloboma - cleft palate - hallux valgus' SubClassOf 'Colobomatous and areolar dystrophy' http://www.ebi.ac.uk/efo/EFO_0006829 GFR change measurement 'GFR change measurement' SubClassOf 'renal system measurement' 'GFR change measurement' SubClassOf 'glomerular filtration rate' http://www.ebi.ac.uk/efo/EFO_0004211 Hypertriglyceridemia 'Hypertriglyceridemia' SubClassOf 'realized_in' some ('disease course' and ('has_part' some 'metabolic process')) 'Hypertriglyceridemia' SubClassOf http://purl.obolibrary.org/obo/BFO_0000054 some ('disease course' and ('has_part' some 'metabolic process')) http://www.ebi.ac.uk/efo/EFO_0004237 Graves disease 'Graves disease' SubClassOf 'realized_in' some ('disease course' and ('has_part' some 'type II hypersensitivity')) 'Graves disease' SubClassOf http://purl.obolibrary.org/obo/BFO_0000054 some ('disease course' and ('has_part' some 'type II hypersensitivity')) http://www.ebi.ac.uk/efo/EFO_0004248 male infertility 'male infertility' SubClassOf 'realized_in' some ('disease course' and ('has_quality' some 'abnormal') and ('has_disease_location' some 'sperm')) 'male infertility' SubClassOf http://purl.obolibrary.org/obo/BFO_0000054 some ('disease course' and ('has_quality' some 'abnormal') and ('has_disease_location' some 'sperm')) http://www.orpha.net/ORDO/Orphanet_294957 Dysostosis with combined reduction defects of upper and lower limbs 'Dysostosis with combined reduction defects of upper and lower limbs' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'Dysostosis with combined reduction defects of upper and lower limbs' SubClassOf 'Genetic syndrome with limb malformations as a major feature' 'Dysostosis with combined reduction defects of upper and lower limbs' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'Dysostosis with combined reduction defects of upper and lower limbs' SubClassOf 'Genetic syndrome with limb malformations as a major feature' http://www.orpha.net/ORDO/Orphanet_66628 Obesity due to congenital leptin deficiency 'Obesity due to congenital leptin deficiency' SubClassOf 'Hypogonadotropic hypogonadism associated with other endocrinopathies' 'Obesity due to congenital leptin deficiency' SubClassOf 'Hypogonadotropic hypogonadism associated with other endocrinopathies' http://www.orpha.net/ORDO/Orphanet_66637 Diaphanospondylodysostosis 'Diaphanospondylodysostosis' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'Diaphanospondylodysostosis' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'Diaphanospondylodysostosis' SubClassOf 'Dysostosis of genetic origin' http://www.ebi.ac.uk/efo/EFO_0004428 FAIRE-seq 'FAIRE-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'FAIRE-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.orpha.net/ORDO/Orphanet_98539 Early-onset ataxia with dementia 'Early-onset ataxia with dementia' SubClassOf 'Ataxia with dementia' 'Early-onset ataxia with dementia' SubClassOf 'Ataxia with dementia' http://www.orpha.net/ORDO/Orphanet_98540 Late-onset ataxia with dementia 'Late-onset ataxia with dementia' SubClassOf 'Ataxia with dementia' 'Late-onset ataxia with dementia' SubClassOf 'Ataxia with dementia' http://www.orpha.net/ORDO/Orphanet_331184 Constitutional neutropenia with extra-haematopoietic manifestations 'Constitutional neutropenia with extra-haematopoietic manifestations' SubClassOf 'Constitutional neutropenia' 'Constitutional neutropenia with extra-haematopoietic manifestations' SubClassOf 'Constitutional neutropenia' http://www.orpha.net/ORDO/Orphanet_369852 Recurrent infections-myelofibrosis-nephromegaly syndrome 'Recurrent infections-myelofibrosis-nephromegaly syndrome' SubClassOf 'Constitutional neutropenia with extra-haematopoietic manifestations' 'Recurrent infections-myelofibrosis-nephromegaly syndrome' SubClassOf 'Constitutional neutropenia with extra-haematopoietic manifestations' http://www.orpha.net/ORDO/Orphanet_331232 Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells 'Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells' SubClassOf 'Immunodeficiency predominantly affecting antibody production' 'Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells' SubClassOf 'Immunodeficiency predominantly affecting antibody production' http://www.orpha.net/ORDO/Orphanet_331235 Selective IgM deficiency 'Selective IgM deficiency' SubClassOf 'Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells' 'Selective IgM deficiency' SubClassOf 'Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells' 'Selective IgM deficiency' SubClassOf 'Immunodeficiency predominantly affecting antibody production' http://www.orpha.net/ORDO/Orphanet_211062 Hereditary episodic ataxia 'Hereditary episodic ataxia' SubClassOf 'Rare genetic movement disorder' 'Hereditary episodic ataxia' SubClassOf 'Genetic neurodegenerative disease' 'Hereditary episodic ataxia' SubClassOf 'Rare genetic tremor disorder' http://www.orpha.net/ORDO/Orphanet_35125 Epidermal nevus syndrome 'Epidermal nevus syndrome' SubClassOf 'Rare genetic neurological disorder' 'Epidermal nevus syndrome' SubClassOf 'Syndromic ichthyosis associated with ocular features' 'Epidermal nevus syndrome' SubClassOf 'benign neoplasm of eye' 'Epidermal nevus syndrome' SubClassOf 'has modifier' some 'rare' 'Epidermal nevus syndrome' SubClassOf 'Syndromic ichthyosis associated with ocular features' 'Epidermal nevus syndrome' SubClassOf 'head and neck neoplasia' http://www.ebi.ac.uk/efo/EFO_0008560 female infertility 'female infertility' SubClassOf 'realized_in' some ('disease course' and (('part of' some 'female reproductive system') or ('has_disease_location' some 'female reproductive system')) and ('has_quality' some 'abnormal')) 'female infertility' SubClassOf http://purl.obolibrary.org/obo/BFO_0000054 some ('disease course' and (('part of' some 'female reproductive system') or ('has_disease_location' some 'female reproductive system')) and ('has_quality' some 'abnormal')) http://www.orpha.net/ORDO/Orphanet_98701 Phakomatosis with eye involvement 'Phakomatosis with eye involvement' SubClassOf 'Rare genetic neurological disorder' 'Phakomatosis with eye involvement' SubClassOf 'neurocutaneous syndrome' 'Phakomatosis with eye involvement' SubClassOf 'Genodermatosis with ocular features' 'Phakomatosis with eye involvement' SubClassOf 'Genodermatosis with ocular features' http://www.orpha.net/ORDO/Orphanet_2019 Femur-fibula-ulna complex 'Femur-fibula-ulna complex' SubClassOf 'Dysostosis with combined reduction defects of upper and lower limbs' 'Femur-fibula-ulna complex' SubClassOf 'Genetic syndrome with limb malformations as a major feature' 'Femur-fibula-ulna complex' SubClassOf 'Dysostosis with combined reduction defects of upper and lower limbs' 'Femur-fibula-ulna complex' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' http://www.ebi.ac.uk/efo/EFO_0008519 primary hyperparathyroidism 'primary hyperparathyroidism' SubClassOf 'hyperparathyroidism' http://www.ebi.ac.uk/efo/EFO_0008470 dietary potassium intake measurement 'dietary potassium intake measurement' SubClassOf 'potassium measurement' http://www.orpha.net/ORDO/Orphanet_98637 Secondary glaucoma due to a proliferation and differentiation anomaly 'Secondary glaucoma due to a proliferation and differentiation anomaly' SubClassOf 'Secondary dysgenetic glaucoma' 'Secondary glaucoma due to a proliferation and differentiation anomaly' SubClassOf 'Secondary dysgenetic glaucoma' http://www.orpha.net/ORDO/Orphanet_98650 Craniofacial anomaly with cataract 'Craniofacial anomaly with cataract' SubClassOf 'Systemic disease with cataract' 'Craniofacial anomaly with cataract' SubClassOf 'Systemic disease with cataract' http://www.orpha.net/ORDO/Orphanet_60015 Parietal foramina 'Parietal foramina' SubClassOf 'Cleidocranial dysplasia and isolated cranial ossification defect' 'Parietal foramina' SubClassOf 'Cleidocranial dysplasia and isolated cranial ossification defect' 'Parietal foramina' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_35099 Isolated brachycephaly 'Isolated brachycephaly' SubClassOf 'Craniostenosis associated with a strabismus' 'Isolated brachycephaly' SubClassOf 'Craniostenosis associated with a strabismus' 'Isolated brachycephaly' SubClassOf 'Syndrome with a symptomatic strabismus' http://www.orpha.net/ORDO/Orphanet_35098 Isolated plagiocephaly 'Isolated plagiocephaly' SubClassOf 'Craniostenosis associated with a strabismus' 'Isolated plagiocephaly' SubClassOf 'Syndrome with a symptomatic strabismus' 'Isolated plagiocephaly' SubClassOf 'Craniostenosis associated with a strabismus' http://www.orpha.net/ORDO/Orphanet_139406 Encephalopathy due to prosaposin deficiency 'Encephalopathy due to prosaposin deficiency' SubClassOf 'sphingolipidosis with epilepsy' 'Encephalopathy due to prosaposin deficiency' SubClassOf 'lysosomal disease with epilepsy' 'Encephalopathy due to prosaposin deficiency' SubClassOf 'Sphingolipidosis' http://www.orpha.net/ORDO/Orphanet_35093 Isolated scaphocephaly 'Isolated scaphocephaly' SubClassOf 'Craniostenosis associated with a strabismus' 'Isolated scaphocephaly' SubClassOf 'Craniostenosis associated with a strabismus' 'Isolated scaphocephaly' SubClassOf 'Syndrome with a symptomatic strabismus' http://purl.obolibrary.org/obo/HP_0008873 Disproportionate short-limb short stature 'Disproportionate short-limb short stature' SubClassOf 'Growth delay' 'Disproportionate short-limb short stature' SubClassOf http://purl.obolibrary.org/obo/HP_0004322 http://www.orpha.net/ORDO/Orphanet_98665 Colobomatous and areolar dystrophy 'Colobomatous and areolar dystrophy' SubClassOf 'Genetic macular dystrophy' 'Colobomatous and areolar dystrophy' SubClassOf 'Genetic macular dystrophy' http://www.orpha.net/ORDO/Orphanet_98684 Craniostenosis associated with a strabismus 'Craniostenosis associated with a strabismus' SubClassOf 'Syndrome with a symptomatic strabismus' 'Craniostenosis associated with a strabismus' SubClassOf 'Syndrome with a symptomatic strabismus' http://www.orpha.net/ORDO/Orphanet_98694 Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly 'Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly' SubClassOf 'Nervous system anomaly with eye involvement' 'Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly' SubClassOf 'Nervous system anomaly with eye involvement' http://www.orpha.net/ORDO/Orphanet_98693 Spinocerebellar ataxia with oculomotor anomaly 'Spinocerebellar ataxia with oculomotor anomaly' SubClassOf 'Nervous system anomaly with eye involvement' 'Spinocerebellar ataxia with oculomotor anomaly' SubClassOf 'Nervous system anomaly with eye involvement' http://www.orpha.net/ORDO/Orphanet_98698 Ichthyosis associated with ocular features 'Ichthyosis associated with ocular features' SubClassOf 'Genetic keratinization disorder associated with ocular features' 'Ichthyosis associated with ocular features' SubClassOf 'Genetic keratinization disorder associated with ocular features' http://www.orpha.net/ORDO/Orphanet_98699 Syndromic ichthyosis associated with ocular features 'Syndromic ichthyosis associated with ocular features' SubClassOf 'syndromic disease' 'Syndromic ichthyosis associated with ocular features' SubClassOf 'Ichthyosis associated with ocular features' 'Syndromic ichthyosis associated with ocular features' EquivalentTo 'Ichthyosis associated with ocular features' and ('has modifier' some 'has a syndromic presentation') 'Syndromic ichthyosis associated with ocular features' SubClassOf 'Genetic keratinization disorder associated with ocular features' http://www.orpha.net/ORDO/Orphanet_98692 Nervous system anomaly with eye involvement 'Nervous system anomaly with eye involvement' SubClassOf 'Genetic neuro-ophthalmological disease' 'Nervous system anomaly with eye involvement' SubClassOf 'Genetic neuro-ophthalmological disease' http://www.ebi.ac.uk/efo/EFO_0008773 ICE 'ICE' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'ICE' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008774 iCLIP 'iCLIP' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'iCLIP' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008775 icSHAPE 'icSHAPE' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'icSHAPE' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008776 iDES 'iDES' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'iDES' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008770 HTGTS 'HTGTS' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'HTGTS' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008771 HydEn-seq 'HydEn-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'HydEn-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008772 hyRAD 'hyRAD' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'hyRAD' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008777 Ig-Seq 'Ig-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'Ig-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008778 IMS-MDA 'IMS-MDA' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'IMS-MDA' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008779 in-cell SHAPE-Seq 'in-cell SHAPE-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'in-cell SHAPE-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008762 hi-CLIP 'hi-CLIP' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'hi-CLIP' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008763 Hi-SCL 'Hi-SCL' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'Hi-SCL' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008764 Histone meth. 'Histone meth.' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'Histone meth.' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008765 HiTS-Flip 'HiTS-Flip' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'HiTS-Flip' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008760 GUIDE-seq 'GUIDE-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'GUIDE-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008761 HELP-Seq 'HELP-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'HELP-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008766 HITS-RAP 'HITS-RAP' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'HITS-RAP' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008767 hMeDIP-seq 'hMeDIP-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'hMeDIP-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008768 HT-ChIP 'HT-ChIP' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'HT-ChIP' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008769 HT-SELEX 'HT-SELEX' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'HT-SELEX' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008795 MARIO 'MARIO' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'MARIO' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008796 MARS-seq 'MARS-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'MARS-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008797 MATQ-seq 'MATQ-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'MATQ-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008798 MBDCap-Seq 'MBDCap-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'MBDCap-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008791 MAF 'MAF' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'MAF' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008792 MAINE-Seq 'MAINE-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'MAINE-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008793 MALBAC 'MALBAC' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'MALBAC' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008794 MARDI 'MARDI' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'MARDI' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008799 MCC-Seq 'MCC-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'MCC-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008784 LAM-HTGTS 'LAM-HTGTS' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'LAM-HTGTS' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008785 LIANTI 'LIANTI' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'LIANTI' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008786 LM-Seq 'LM-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'LM-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008787 Look-Seq 'Look-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'Look-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008780 inDrop 'inDrop' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'inDrop' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008781 ini-seq 'ini-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'ini-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008782 INSeq 'INSeq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'INSeq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008783 IVT-SAPAS 'IVT-SAPAS' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'IVT-SAPAS' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008788 m1A mapping 'm1A mapping' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'm1A mapping' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008789 M6A-RIP 'M6A-RIP' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'M6A-RIP' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008790 m6A-seq 'm6A-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'm6A-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.orpha.net/ORDO/Orphanet_306507 LAMB2-related infantile-onset nephrotic syndrome 'LAMB2-related infantile-onset nephrotic syndrome' SubClassOf 'Congenital and infantile nephrotic syndrome' 'LAMB2-related infantile-onset nephrotic syndrome' SubClassOf 'Congenital and infantile nephrotic syndrome' 'LAMB2-related infantile-onset nephrotic syndrome' SubClassOf 'Primary glomerular disease' http://purl.obolibrary.org/obo/OBI_0000971 fresh specimen 'frozen specimen' DisjointWith 'fresh specimen' 'paraffin specimen' DisjointWith 'fresh specimen' 'fresh specimen' DisjointWith 'agar stab specimen' http://purl.obolibrary.org/obo/OBI_0000981 agar stab specimen 'frozen specimen' DisjointWith 'agar stab specimen' 'fresh specimen' DisjointWith 'agar stab specimen' 'paraffin specimen' DisjointWith 'agar stab specimen' http://purl.obolibrary.org/obo/OBI_0000950 paraffin specimen 'paraffin specimen' DisjointWith 'fresh specimen' 'frozen specimen' DisjointWith 'paraffin specimen' 'paraffin specimen' DisjointWith 'agar stab specimen' http://www.ebi.ac.uk/efo/EFO_0008710 Digital RNA 'Digital RNA' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'Digital RNA' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008715 Dnase I SIM 'Dnase I SIM' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'Dnase I SIM' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008718 DP-Seq 'DP-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'DP-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008711 DIP-seq 'DIP-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'DIP-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008712 DLAF 'DLAF' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'DLAF' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008713 DMS-MapSeq 'DMS-MapSeq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'DMS-MapSeq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008714 DMS-Seq 'DMS-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'DMS-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008719 dRNA-Seq 'dRNA-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'dRNA-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008704 DamID 'DamID' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'DamID' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008705 DAP-seq 'DAP-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'DAP-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008706 DArTSeq 'DArTSeq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'DArTSeq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008707 ddRADseq 'ddRADseq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'ddRADseq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008700 CREST-seq 'CREST-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'CREST-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008701 CROP-Seq 'CROP-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'CROP-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008702 CrY2H-seq 'CrY2H-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'CrY2H-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008703 CytoSeq 'CytoSeq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'CytoSeq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008708 DeepCAGE 'DeepCAGE' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'DeepCAGE' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008709 Digenome-seq 'Digenome-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'Digenome-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://purl.obolibrary.org/obo/OBI_0000922 frozen specimen 'frozen specimen' DisjointWith 'fresh specimen' 'frozen specimen' DisjointWith 'agar stab specimen' 'frozen specimen' DisjointWith 'paraffin specimen' http://www.ebi.ac.uk/efo/EFO_0008730 EnIGMA 'EnIGMA' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'EnIGMA' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008731 EPIG-Seq 'EPIG-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'EPIG-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008732 epiGBS 'epiGBS' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'epiGBS' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008737 FAST-iCLIP 'FAST-iCLIP' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'FAST-iCLIP' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008738 FAST-SeqS 'FAST-SeqS' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'FAST-SeqS' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008739 fC-CET 'fC-CET' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'fC-CET' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008733 eWGA 'eWGA' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'eWGA' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008734 ezRAD 'ezRAD' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'ezRAD' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008735 FACS-seq 'FACS-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'FACS-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008720 DroNc-seq 'DroNc-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'DroNc-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008721 Drop-ChIP 'Drop-ChIP' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'Drop-ChIP' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008726 dsRNA-Seq 'dsRNA-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'dsRNA-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008727 Duplex-Seq 'Duplex-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'Duplex-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008728 EC-seq 'EC-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'EC-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008729 END-seq 'END-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'END-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008722 Drop-seq 'Drop-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'Drop-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008723 Droplet-CirSeq 'Droplet-CirSeq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'Droplet-CirSeq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008724 DSB-seq 'DSB-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'DSB-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008725 DSBCapture 'DSBCapture' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'DSBCapture' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008751 G4-seq 'G4-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'G4-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008752 GMUCT 1.0 'GMUCT 1.0' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'GMUCT 1.0' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008753 GMUCT 2.0 'GMUCT 2.0' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'GMUCT 2.0' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008754 GRIL-seq 'GRIL-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'GRIL-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008750 G4 ChIP-seq 'G4 ChIP-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'G4 ChIP-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008759 GTI-Seq 'GTI-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'GTI-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008755 GRIP 'GRIP' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'GRIP' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008756 GRO-CAP 'GRO-CAP' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'GRO-CAP' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008757 gSELEX-Seq 'gSELEX-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'gSELEX-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008758 GT-seq 'GT-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'GT-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008740 fC-Seal 'fC-Seal' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'fC-Seal' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008741 fCAB-Seq 'fCAB-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'fCAB-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008743 FiT-Seq 'FiT-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'FiT-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008748 FRT-Seq 'FRT-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'FRT-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008749 Fusion-seq 'Fusion-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'Fusion-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008744 FlowSeq 'FlowSeq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'FlowSeq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008745 Frag-seq 'Frag-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'Frag-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008746 FREQ-Seq 'FREQ-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'FREQ-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008747 FRISCR 'FRISCR' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'FRISCR' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008652 AHT-ChIP-Seq 'AHT-ChIP-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'AHT-ChIP-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008653 ARS-Seq 'ARS-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'ARS-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008654 Bar-Seq 'Bar-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'genomic DNA')) 'Bar-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'genomic DNA')) http://www.ebi.ac.uk/efo/EFO_0008655 Barcode-Seq 'Barcode-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'Barcode-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008650 Advanved Chia-PET 'Advanved Chia-PET' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'Advanved Chia-PET' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008651 AGO-CLIP 'AGO-CLIP' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'AGO-CLIP' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008656 BisChIP-Seq 'BisChIP-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'BisChIP-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008657 BLESS 'BLESS' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'BLESS' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008658 BrdU-CLIP 'BrdU-CLIP' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'BrdU-CLIP' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008659 Break-seq 'Break-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'Break-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008641 3’-end-seq '3’-end-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) '3’-end-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008642 3’NT method '3’NT method' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) '3’NT method' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008643 3′-Seq '3′-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) '3′-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008644 3P-Seq '3P-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) '3P-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008640 3'T-fill '3'T-fill' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) '3'T-fill' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008649 Aba-seq 'Aba-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'Aba-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008645 3-Seq '3-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) '3-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008646 4sUDRB-seq '4sUDRB-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) '4sUDRB-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008647 5’-GRO-seq '5’-GRO-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) '5’-GRO-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008648 5PSeq '5PSeq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) '5PSeq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008674 Capture-HiC 'Capture-HiC' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'Capture-HiC' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008675 CaptureSeq 'CaptureSeq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'CaptureSeq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008676 CAST-ChIP 'CAST-ChIP' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'CAST-ChIP' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008677 CATCH-IT 'CATCH-IT' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'CATCH-IT' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008670 caMAB-seq 'caMAB-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'caMAB-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008671 CAP-seq 'CAP-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'CAP-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008672 Capp-Seq 'Capp-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'Capp-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008673 CapSeq 'CapSeq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'CapSeq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008678 CATCH-seq 'CATCH-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'CATCH-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008679 CEL-seq 'CEL-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'CEL-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008680 ChAP-seq 'ChAP-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'ChAP-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008663 BruDRB-seq 'BruDRB-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'BruDRB-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008664 BruUV-Seq 'BruUV-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'BruUV-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008665 BS-Seq 'BS-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'BS-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008666 BSAS 'BSAS' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'BSAS' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008660 BRIC-seq 'BRIC-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'BRIC-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008661 Bru-Seq 'Bru-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'Bru-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008662 BruChase-Seq 'BruChase-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'BruChase-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008667 BSPP 'BSPP' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'BSPP' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008668 CAB-Seq 'CAB-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'CAB-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008669 CAGEscan 'CAGEscan' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'CAGEscan' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008696 COPRO-seq 'COPRO-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'COPRO-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008697 cP-RNA-Seq 'cP-RNA-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'cP-RNA-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008698 CPT-seq 'CPT-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'CPT-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008699 CRE-Seq 'CRE-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'CRE-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008692 CLaP 'CLaP' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'CLaP' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008693 CLASH 'CLASH' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'CLASH' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008694 ClickSeq 'ClickSeq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'ClickSeq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008695 CNV-Seq 'CNV-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'CNV-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008685 ChIP-BS-seq 'ChIP-BS-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'ChIP-BS-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008686 ChIPmentation 'ChIPmentation' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'ChIPmentation' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008687 ChIRP 'ChIRP' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'ChIRP' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008688 CIP-TAP 'CIP-TAP' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'CIP-TAP' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008681 CHART 'CHART' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'CHART' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008682 ChEC-seq 'ChEC-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'genomic DNA')) 'ChEC-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'genomic DNA')) http://www.ebi.ac.uk/efo/EFO_0008683 Chem-Seq 'Chem-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'Chem-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008684 Chia-PET 'Chia-PET' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'Chia-PET' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008689 Circle-Seq 'Circle-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'Circle-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008690 CIRS-seq 'CIRS-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'CIRS-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008691 CirSeq 'CirSeq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'CirSeq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.orpha.net/ORDO/Orphanet_101109 Spinocerebellar ataxia type 28 'Spinocerebellar ataxia type 28' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/HP_0031458 Adenoiditis 'Adenoiditis' SubClassOf 'Abnormality of the respiratory system' http://www.orpha.net/ORDO/Orphanet_98097 Autosomal recessive cerebellar ataxia due to a DNA repair defect 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' SubClassOf 'Developmental anomaly of metabolic origin' http://www.ebi.ac.uk/efo/EFO_0008638 2b-RAD '2b-RAD' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) '2b-RAD' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008639 2P-Seq '2P-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) '2P-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008913 scRNA-seq 'scRNA-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'scRNA-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008914 scRRBS 'scRRBS' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'scRRBS' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008915 scTHS-seq 'scTHS-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'scTHS-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008916 scWGBS 'scWGBS' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'scWGBS' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008910 SCMDA 'SCMDA' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'SCMDA' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008911 scMT-Seq 'scMT-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'scMT-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008912 scRC-Seq 'scRC-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'scRC-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008918 SELEX-seq 'SELEX-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'SELEX-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008919 Seq-Well 'Seq-Well' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'Seq-Well' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008902 SAPAS 'SAPAS' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'SAPAS' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008903 SC3-seq 'SC3-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'SC3-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008904 scATAC-seq (Microfluidics) 'scATAC-seq (Microfluidics)' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'scATAC-seq (Microfluidics)' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008905 scBS-seq 'scBS-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'scBS-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008900 RRBS 'RRBS' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'RRBS' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008901 Safe-SeqS 'Safe-SeqS' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'Safe-SeqS' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008906 scChIP-seq 'scChIP-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'scChIP-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008908 SCI-seq 'SCI-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'SCI-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008909 SCL-exo 'SCL-exo' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'SCL-exo' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008930 Smart-seq 'Smart-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'Smart-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008935 smMIP 'smMIP' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'smMIP' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008936 SMORE-Seq 'SMORE-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'SMORE-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008937 snDrop-seq 'snDrop-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'snDrop-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008938 SNES 'SNES' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'SNES' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008931 Smart-seq2 'Smart-seq2' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'Smart-seq2' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008932 SMDB 'SMDB' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'SMDB' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008933 SMiLE-seq 'SMiLE-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'SMiLE-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008934 SMIT 'SMIT' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'SMIT' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008939 snmC-seq 'snmC-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'snmC-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008924 Simul-seq 'Simul-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'Simul-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008925 Single cell ATAC-seq (cell index) 'Single cell ATAC-seq (cell index)' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'Single cell ATAC-seq (cell index)' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008926 SITE-Seq 'SITE-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'SITE-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008927 SLAF-Seq 'SLAF-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'SLAF-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008920 SeqZip 'SeqZip' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'SeqZip' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008921 SHAPE-MaP 'SHAPE-MaP' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'SHAPE-MaP' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008922 SHAPE-Seq 'SHAPE-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'SHAPE-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008923 SiMSen-Seq 'SiMSen-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'SiMSen-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008928 SLBS 'SLBS' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'SLBS' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008929 SMA 'SMA' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'SMA' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008950 ssRNA-seq 'ssRNA-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'ssRNA-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008951 STATseq 'STATseq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'STATseq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008952 Strand-seq 'Strand-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'Strand-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008957 T-WGBS 'T-WGBS' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'T-WGBS' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008958 TAB-Seq 'TAB-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'TAB-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008959 TaDa 'TaDa' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'TaDa' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008953 STRT-seq 'STRT-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'STRT-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008954 STRT-seq-2i 'STRT-seq-2i' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'STRT-seq-2i' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008955 Structure-Seq 'Structure-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'Structure-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008956 SUPeR-seq 'SUPeR-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'SUPeR-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008940 snRNA-seq 'snRNA-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'snRNA-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008941 sNuc-Seq 'sNuc-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'sNuc-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008946 SPLAT 'SPLAT' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'SPLAT' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008947 sRNA-Seq 'sRNA-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'sRNA-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008948 SS3-Seq 'SS3-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'SS3-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008949 SSB-Seq 'SSB-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'SSB-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008942 Sono-Seq 'Sono-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'Sono-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008943 SPARE 'SPARE' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'SPARE' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008944 SpDamID 'SpDamID' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'SpDamID' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008945 SPET-seq 'SPET-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'SPET-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008971 TIVA 'TIVA' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'TIVA' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008972 TL-seq 'TL-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'TL-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008973 TN-Seq 'TN-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'TN-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008974 Tomo-Seq 'Tomo-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'Tomo-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008970 TIF-Seq 'TIF-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'TIF-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008979 Tuba-seq 'Tuba-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'Tuba-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008975 TRAP-Seq 'TRAP-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'TRAP-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008976 TRIBE 'TRIBE' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'TRIBE' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008977 TruePrime 'TruePrime' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'TruePrime' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008978 TSS Sequencing 'TSS Sequencing' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'TSS Sequencing' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008960 TAIL-seq 'TAIL-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'TAIL-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008961 TAmC-Seq 'TAmC-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'TAmC-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008962 TARDIS 'TARDIS' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'TARDIS' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008963 TATL-seq 'TATL-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'TATL-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008968 Term-Seq 'Term-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'Term-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008969 THS-seq 'THS-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'THS-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008964 TC-Seq 'TC-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'TC-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008966 TCR Chain Paring 'TCR Chain Paring' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'TCR Chain Paring' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008967 TCR-LA-MC PCR 'TCR-LA-MC PCR' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'TCR-LA-MC PCR' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008993 Ex-FISH 'Ex-FISH' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'Ex-FISH' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008994 spatial transcriptomics 'spatial transcriptomics' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'spatial transcriptomics' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008995 10X sequencing '10X sequencing' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) '10X sequencing' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008990 FISSEQ 'FISSEQ' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'FISSEQ' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008991 seqFISH 'seqFISH' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'seqFISH' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008992 MERFISH 'MERFISH' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'MERFISH' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008982 VirCapSeq-VERT 'VirCapSeq-VERT' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'VirCapSeq-VERT' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008983 VirScan 'VirScan' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'VirScan' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008984 WGA-X 'WGA-X' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'WGA-X' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008985 WGBS 'WGBS' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'WGBS' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008980 UMI Method 'UMI Method' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'UMI Method' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008981 VDJ-Seq 'VDJ-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'VDJ-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008986 X-ChIP-seq 'X-ChIP-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'X-ChIP-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008987 YAMAT-Seq 'YAMAT-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'YAMAT-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008988 Ψ-seq 'Ψ-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'Ψ-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008989 ISS 'ISS' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'ISS' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008894 RICC-seq 'RICC-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'RICC-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008895 RIL-seq 'RIL-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'RIL-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008896 RNA-Seq 'RNA-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'RNA-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008897 RNAtag-Seq 'RNAtag-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'RNAtag-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008890 rG4-seq 'rG4-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'rG4-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008891 Ribo-seq 'Ribo-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'Ribo-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008892 RiboMeth-seq 'RiboMeth-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'RiboMeth-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008893 Ribose-seq 'Ribose-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'Ribose-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008898 RNET-seq 'RNET-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'RNET-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008899 RPL 'RPL' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'RPL' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008883 RBBS 'RBBS' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'RBBS' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008884 RBNS 'RBNS' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'RBNS' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008885 RC-Seq 'RC-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'RC-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008886 RedBS-Seq 'RedBS-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'RedBS-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008880 RAP 'RAP' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'RAP' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008881 Rapture 'Rapture' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'Rapture' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008882 RARseq 'RARseq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'RARseq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008887 Rep-Seq 'Rep-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'Rep-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008888 RepeatSeq 'RepeatSeq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'RepeatSeq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008889 Repli-Seq 'Repli-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'Repli-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.orpha.net/ORDO/Orphanet_247765 X-linked cerebellar ataxia 'X-linked cerebellar ataxia' SubClassOf 'Rare genetic tremor disorder' 'X-linked cerebellar ataxia' SubClassOf 'Genetic neurodegenerative disease' 'X-linked cerebellar ataxia' SubClassOf 'Rare genetic movement disorder' http://www.ebi.ac.uk/efo/EFO_0008814 MIPSTR 'MIPSTR' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'MIPSTR' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008815 MiR‐CLIP 'MiR‐CLIP' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'MiR‐CLIP' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008816 MIRA 'MIRA' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'MIRA' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008817 MitoRCA-seq 'MitoRCA-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'MitoRCA-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008810 middRAD 'middRAD' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'middRAD' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008811 MiGS 'MiGS' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'MiGS' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008812 MINCE-seq 'MINCE-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'MINCE-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008813 Mint-ChIP 'Mint-ChIP' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'Mint-ChIP' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008818 miTRAP 'miTRAP' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'miTRAP' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008819 mNET-seq 'mNET-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'mNET-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008803 MeRIP-Seq 'MeRIP-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'MeRIP-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008804 Methyl-seq 'Methyl-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'Methyl-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008805 MethylCap-Seq 'MethylCap-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'MethylCap-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008806 miCLIP-m5A 'miCLIP-m5A' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'miCLIP-m5A' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008800 MDA 'MDA' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'MDA' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008801 MDS 'MDS' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'MDS' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008802 ME-Scan-SVA 'ME-Scan-SVA' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'ME-Scan-SVA' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008807 miCLIP-m6A 'miCLIP-m6A' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'miCLIP-m6A' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008808 Micro-C XL 'Micro-C XL' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'Micro-C XL' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008809 MIDAS 'MIDAS' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'MIDAS' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.orpha.net/ORDO/Orphanet_221046 Poikiloderma with neutropenia 'Poikiloderma with neutropenia' SubClassOf 'Constitutional neutropenia with extra-haematopoietic manifestations' 'Poikiloderma with neutropenia' SubClassOf 'Constitutional neutropenia with extra-haematopoietic manifestations' 'Poikiloderma with neutropenia' SubClassOf 'Constitutional neutropenia' http://www.ebi.ac.uk/efo/EFO_0008830 NOME-Seq 'NOME-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'NOME-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008831 NS-seq 'NS-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'NS-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008836 Nucleo-Seq 'Nucleo-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'Nucleo-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008837 OK-Seq 'OK-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'OK-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008838 ORGANIC 'ORGANIC' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'ORGANIC' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008839 OS-Seq 'OS-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'OS-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008832 NSCR 'NSCR' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'NSCR' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008833 nuc-ChIP-seq 'nuc-ChIP-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'nuc-ChIP-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008834 nucleosome sequencing 'nucleosome sequencing' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'nucleosome sequencing' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008835 nuc-seq 'nuc-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'nuc-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008820 Mosaic-Seq 'Mosaic-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'Mosaic-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008825 Nanogrid RNA-Seq 'Nanogrid RNA-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'Nanogrid RNA-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008826 NET-Seq 'NET-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'NET-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008827 NG Capture-C 'NG Capture-C' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'NG Capture-C' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008828 Nm-seq 'Nm-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'Nm-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008821 MPE-seq 'MPE-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'MPE-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008822 MPRA 'MPRA' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'MPRA' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008823 Mseek 'Mseek' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'Mseek' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008824 NanoCAGE 'NanoCAGE' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'NanoCAGE' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008829 NOIR 'NOIR' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'NOIR' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008850 PAS-Seq 'PAS-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'PAS-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008851 PAT-Seq 'PAT-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'PAT-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008852 PAT–ChIP 'PAT–ChIP' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'PAT–ChIP' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008853 Patch-seq 'Patch-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'Patch-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008858 PE RAD-Seq 'PE RAD-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'PE RAD-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008859 PEAT 'PEAT' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'PEAT' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008854 PB-seq 'PB-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'PB-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008855 PBAT 'PBAT' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'PBAT' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008856 PD-Seq 'PD-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'PD-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008857 PDZ-Seq 'PDZ-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'PDZ-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008840 oxBS-Seq 'oxBS-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'oxBS-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008841 PAIR 'PAIR' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'PAIR' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008842 Paired VH:VL Antibody Repertoire Analysis 'Paired VH:VL Antibody Repertoire Analysis' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'Paired VH:VL Antibody Repertoire Analysis' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008847 PARIS 'PARIS' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'PARIS' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008848 PARS 'PARS' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'PARS' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008849 PARTE 'PARTE' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'PARTE' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008843 PAL-seq 'PAL-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'PAL-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008844 PAPERCLIP 'PAPERCLIP' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'PAPERCLIP' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008845 PAR-CLIP 'PAR-CLIP' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'PAR-CLIP' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008846 PARE-Seq 'PARE-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'PARE-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008872 Pseudo-seq 'Pseudo-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'Pseudo-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008873 PSI-seq 'PSI-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'PSI-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008874 PTB-Seq 'PTB-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'PTB-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008875 Pu-seq 'Pu-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'Pu-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008870 Profiler 'Profiler' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'Profiler' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008871 ProP-PD 'ProP-PD' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'ProP-PD' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008876 Pvu-Seal-seq 'Pvu-Seal-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'Pvu-Seal-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008877 Quartz-seq 'Quartz-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'Quartz-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008878 restriction-site associated DNA sequencing 'restriction-site associated DNA sequencing' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'restriction-site associated DNA sequencing' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008879 RAD-tag 'RAD-tag' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'RAD-tag' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008861 PhIP-seq 'PhIP-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'PhIP-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008862 PIP-Seq 'PIP-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'PIP-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008863 PLATE-Seq 'PLATE-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'PLATE-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008864 PMA 'PMA' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'PMA' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008860 Perturb-Seq 'Perturb-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'Perturb-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008869 PRO-seq 'PRO-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'PRO-seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008865 Pol II CLIP 'Pol II CLIP' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'Pol II CLIP' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008866 Poly(A)-ClickSeq 'Poly(A)-ClickSeq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'Poly(A)-ClickSeq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008867 Pool-Seq 'Pool-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'Pool-Seq' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008868 PRO-cap 'PRO-cap' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'PRO-cap' SubClassOf http://purl.obolibrary.org/obo/BFO_0000055 some ('analyte role' and ('role_of' some 'RNA')) http://purl.obolibrary.org/obo/HP_0004322 Short stature 'Short stature' SubClassOf 'Growth delay' http://purl.obolibrary.org/obo/MONDO_0018469 pulmonary non-tuberculous mycobacterial infection 'pulmonary non-tuberculous mycobacterial infection' DisjointWith 'Tuberculosis' 'pulmonary non-tuberculous mycobacterial infection' SubClassOf 'lung disease' 'pulmonary non-tuberculous mycobacterial infection' SubClassOf 'has modifier' some 'rare' 'pulmonary non-tuberculous mycobacterial infection' SubClassOf 'respiratory tract infectious disease' 'pulmonary non-tuberculous mycobacterial infection' SubClassOf 'mycobacterial infectious disease' http://purl.obolibrary.org/obo/MONDO_0031219 mismatch repair cancer syndrome 'mismatch repair cancer syndrome' SubClassOf 'DNA repair deficiency' http://purl.obolibrary.org/obo/CHEBI_62088 metamizole 'metamizole' SubClassOf 'has_role' some 'drug role' 'metamizole' SubClassOf 'drug' http://purl.obolibrary.org/obo/MONDO_0100232 'psoriatic arthritis, susceptibility to ''psoriatic arthritis, susceptibility to' SubClassOf 'predisposes towards' some 'psoriatic arthritis' ''psoriatic arthritis, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'psoriatic arthritis') ''psoriatic arthritis, susceptibility to' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0100234 paroxysmal familial ventricular fibrillation 'paroxysmal familial ventricular fibrillation' SubClassOf 'ventricular fibrillation' http://purl.obolibrary.org/obo/MONDO_0100131 pediatric acute respiratory distress syndrome 'pediatric acute respiratory distress syndrome' SubClassOf 'acute respiratory distress syndrome' http://www.ebi.ac.uk/efo/EFO_0010970 severe malarial anemia 'severe malarial anemia' SubClassOf 'malaria' 'severe malarial anemia' SubClassOf 'anemia (disease)' http://www.ebi.ac.uk/efo/EFO_0010971 response to metamizole 'response to metamizole' SubClassOf 'is_about' some 'metamizole' 'response to metamizole' SubClassOf 'response to drug' http://www.ebi.ac.uk/efo/EFO_0010961 Visium Spatial Gene Expression 'Visium Spatial Gene Expression' SubClassOf '10X sequencing' 'Visium Spatial Gene Expression' SubClassOf 'spatial transcriptomics' http://www.ebi.ac.uk/efo/EFO_0010962 Illumina NextSeq 1000 'Illumina NextSeq 1000' SubClassOf 'high throughput sequencer' http://www.ebi.ac.uk/efo/EFO_0010960 lumbar puncture 'lumbar puncture' SubClassOf 'collecting specimen from organism' http://www.ebi.ac.uk/efo/EFO_0010969 response to growth hormone 'response to growth hormone' SubClassOf 'response to stimulus' 'response to growth hormone' SubClassOf 'has_input' some 'growth hormone' http://www.ebi.ac.uk/efo/EFO_0010967 urinary microalbumin measurement 'urinary microalbumin measurement' SubClassOf 'urinary metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0010968 phosphate measurement 'phosphate measurement' SubClassOf 'measurement' 'phosphate measurement' EquivalentTo 'measurement' and ('is_about' some 'phosphate') http://www.ebi.ac.uk/efo/EFO_0010965 RNAscope 'RNAscope' SubClassOf 'smFISH' http://www.ebi.ac.uk/efo/EFO_0010966 pneumonia severity measurement 'pneumonia severity measurement' SubClassOf 'lung disease severity measurement' http://www.ebi.ac.uk/efo/EFO_0010963 Illumina NextSeq 2000 'Illumina NextSeq 2000' SubClassOf 'high throughput sequencer' http://www.ebi.ac.uk/efo/EFO_0010964 barcoded plate-based single cell RNA-seq 'barcoded plate-based single cell RNA-seq' SubClassOf 'single cell library construction' http://purl.obolibrary.org/obo/MONDO_0014768 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 'cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2' SubClassOf 'CADASIL' http://www.ebi.ac.uk/efo/EFO_0010959 RNA extraction protocol 'RNA extraction protocol' SubClassOf 'nucleic acid extraction protocol' http://www.ebi.ac.uk/efo/EFO_0010956 peroxisome biogenesis disorder, complementation group 7 'peroxisome biogenesis disorder, complementation group 7' SubClassOf 'Peroxisomal disease' http://www.ebi.ac.uk/efo/EFO_0010954 cask-related c-linked intellectual disability 'cask-related c-linked intellectual disability' SubClassOf 'X-linked syndromic intellectual disability' http://www.ebi.ac.uk/efo/EFO_0010955 muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12 'muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12' SubClassOf 'muscular dystrophy-dystroglycanopathy, type C' http://www.ebi.ac.uk/efo/EFO_0010952 urinary potassium measurement 'urinary potassium measurement' SubClassOf 'urinary metabolite measurement' 'urinary potassium measurement' SubClassOf 'potassium measurement' 'urinary potassium measurement' SubClassOf 'is_about' some 'potassium' http://www.ebi.ac.uk/efo/EFO_0010953 autosomal recessive dilated cardiomyopathy 'autosomal recessive dilated cardiomyopathy' SubClassOf 'dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0014645 BENTA disease 'BENTA disease' SubClassOf 'non-severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0009580 intellectual disability, autosomal recessive 1 'intellectual disability, autosomal recessive 1' SubClassOf 'Autosomal recessive non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0005341 skin basal cell carcinoma 'skin basal cell carcinoma' SubClassOf 'skin squamous cell carcinoma' 'skin basal cell carcinoma' SubClassOf 'basal cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0044660 menstrual cycle-dependent periodic fever 'menstrual cycle-dependent periodic fever' SubClassOf 'Anomaly of puberty or/and menstrual cycle of genetic origin' http://purl.obolibrary.org/obo/MONDO_0011383 autoimmune lymphoproliferative syndrome type 2A 'autoimmune lymphoproliferative syndrome type 2A' SubClassOf 'Autoimmune lymphoproliferative syndrome' http://purl.obolibrary.org/obo/MONDO_0021353 tumor of uterus 'tumor of uterus' SubClassOf 'female reproductive system neoplasm' 'tumor of uterus' SubClassOf 'uterine disease' http://purl.obolibrary.org/obo/MONDO_0021239 urethra neoplasm 'urethra neoplasm' SubClassOf 'urethral disease' 'urethra neoplasm' SubClassOf 'urinary system neoplasm' http://purl.obolibrary.org/obo/MONDO_0018700 pseudohypoparathyroidism without Albright hereditary osteodystrophy 'pseudohypoparathyroidism without Albright hereditary osteodystrophy' SubClassOf 'Pseudohypoparathyroidism' http://purl.obolibrary.org/obo/MONDO_0018722 primary lymphedema with associated anomalies 'primary lymphedema with associated anomalies' SubClassOf 'Primary lymphedema' http://purl.obolibrary.org/obo/MONDO_0018699 pseudohypoparathyroidism with Albright hereditary osteodystrophy 'pseudohypoparathyroidism with Albright hereditary osteodystrophy' SubClassOf 'Acromelic dysplasia' 'pseudohypoparathyroidism with Albright hereditary osteodystrophy' SubClassOf 'other genetic dermis disorder' 'pseudohypoparathyroidism with Albright hereditary osteodystrophy' SubClassOf 'Syndromic obesity' 'pseudohypoparathyroidism with Albright hereditary osteodystrophy' SubClassOf 'dermis disease' 'pseudohypoparathyroidism with Albright hereditary osteodystrophy' SubClassOf 'Musculoskeletal disease with cataract' 'pseudohypoparathyroidism with Albright hereditary osteodystrophy' SubClassOf 'genetic skin disease' 'pseudohypoparathyroidism with Albright hereditary osteodystrophy' SubClassOf 'Pseudohypoparathyroidism' http://purl.obolibrary.org/obo/MONDO_0018545 primary immunodeficiency with predisposition to severe viral infection 'primary immunodeficiency with predisposition to severe viral infection' SubClassOf 'Primary immunodeficiency due to a defect in innate immunity' http://purl.obolibrary.org/obo/MONDO_0018299 sphingolipidosis with epilepsy 'sphingolipidosis with epilepsy' SubClassOf 'lysosomal disease with epilepsy' 'sphingolipidosis with epilepsy' SubClassOf 'Sphingolipidosis' http://purl.obolibrary.org/obo/MONDO_0002070 ventricular septal defect (disease) 'ventricular septal defect (disease)' SubClassOf 'heart septal defect' http://purl.obolibrary.org/obo/MONDO_0004609 herpes simplex infectious disease 'herpes simplex infectious disease' SubClassOf 'Herpesviridae infectious disease' http://purl.obolibrary.org/obo/MONDO_0016404 metabolic neurotransmission anomaly with epilepsy 'metabolic neurotransmission anomaly with epilepsy' SubClassOf 'metabolic disease with epilepsy' http://purl.obolibrary.org/obo/MONDO_0010837 primary hyperparathyroidism (disease) 'primary hyperparathyroidism (disease)' SubClassOf 'hyperparathyroidism' http://purl.obolibrary.org/obo/MONDO_0020802 obsolete basal cell cancer 'obsolete basal cell cancer' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015502 pinnae and external auditory canal anomaly 'pinnae and external auditory canal anomaly' SubClassOf 'genetic otorhinolaryngological malformation' 'pinnae and external auditory canal anomaly' SubClassOf 'Rare otorhinolaryngological malformation'