206 36 7 http://www.ebi.ac.uk/efo/EFO_0000479 essential thrombocythemia 'essential thrombocythemia' SubClassOf 'vascular bone neoplasm' 'essential thrombocythemia' SubClassOf 'Rare genetic coagulation disorder' 'essential thrombocythemia' SubClassOf 'vascular cancer' 'essential thrombocythemia' SubClassOf 'thrombotic disorder due to a platelet anomaly' 'essential thrombocythemia' SubClassOf 'genetic vascular tumor' http://www.orpha.net/ORDO/Orphanet_1345 Cardiomyopathy - cataract - hip spine disease 'Cardiomyopathy - cataract - hip spine disease' SubClassOf 'Syndrome associated with dilated cardiomyopathy' 'Cardiomyopathy - cataract - hip spine disease' SubClassOf 'Syndrome associated with dilated cardiomyopathy' 'Cardiomyopathy - cataract - hip spine disease' SubClassOf 'disease has major feature' some 'articular cartilage disease' 'Cardiomyopathy - cataract - hip spine disease' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_216820 Osteogenesis imperfecta type 4 'Osteogenesis imperfecta type 4' SubClassOf 'Rare genetic odontologic disease' http://www.orpha.net/ORDO/Orphanet_216812 Osteogenesis imperfecta type 3 'Osteogenesis imperfecta type 3' SubClassOf 'Rare genetic odontologic disease' http://www.ebi.ac.uk/efo/EFO_1000355 Malignant Mesothelioma 'Malignant Mesothelioma' SubClassOf 'bronchopulmonary tumor' 'Malignant Mesothelioma' SubClassOf 'respiratory system cancer' 'Malignant Mesothelioma' SubClassOf 'cancer' 'Malignant Mesothelioma' SubClassOf 'respiratory system disease' http://www.ebi.ac.uk/efo/EFO_0009028 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome 'Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome' SubClassOf 'has modifier' some 'rare' 'Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome' SubClassOf 'autosomal recessive disease' 'Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome' SubClassOf 'hereditary connective tissue disorder' 'Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome' SubClassOf 'rheumatic disease' http://www.orpha.net/ORDO/Orphanet_324588 Familial dyskinesia and facial myokymia 'Familial dyskinesia and facial myokymia' SubClassOf 'movement disorder' http://www.orpha.net/ORDO/Orphanet_1493 Vici syndrome 'Vici syndrome' SubClassOf 'Syndrome associated with dilated cardiomyopathy' 'Vici syndrome' SubClassOf 'Syndrome associated with dilated cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_59306 McLeod neuroacanthocytosis syndrome 'McLeod neuroacanthocytosis syndrome' SubClassOf 'Syndrome associated with dilated cardiomyopathy' 'McLeod neuroacanthocytosis syndrome' SubClassOf 'Syndrome associated with dilated cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_96334 Paternal uniparental disomy of chromosome 14 'Paternal uniparental disomy of chromosome 14' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700086 http://www.ebi.ac.uk/efo/EFO_0000702 small cell lung carcinoma 'small cell lung carcinoma' SubClassOf 'bronchopulmonary tumor' http://www.orpha.net/ORDO/Orphanet_98810 Paroxysmal non-kinesigenic dyskinesia 'Paroxysmal non-kinesigenic dyskinesia' SubClassOf 'Paroxysmal dyskinesia' 'Paroxysmal non-kinesigenic dyskinesia' SubClassOf 'Paroxysmal dyskinesia' http://www.orpha.net/ORDO/Orphanet_307052 Rare genetic parkinsonian disorder 'Rare genetic parkinsonian disorder' SubClassOf 'Rare genetic tremor disorder' http://www.orpha.net/ORDO/Orphanet_307058 Miscellaneous movement disorder due to genetic neurodegenerative disease 'Miscellaneous movement disorder due to genetic neurodegenerative disease' SubClassOf 'Rare genetic tremor disorder' http://www.orpha.net/ORDO/Orphanet_307064 Rare genetic myoclonus 'Rare genetic myoclonus' SubClassOf 'Rare genetic tremor disorder' http://www.orpha.net/ORDO/Orphanet_307061 Rare genetic tremor disorder 'Rare genetic tremor disorder' SubClassOf 'Rare genetic neurological disorder' 'Rare genetic tremor disorder' EquivalentTo 'movement disorder' and ('has modifier' some 'inherited') 'Rare genetic tremor disorder' SubClassOf 'movement disorder' 'Rare genetic tremor disorder' SubClassOf 'Rare genetic movement disorder' http://www.orpha.net/ORDO/Orphanet_3378 Trisomy 13 'Trisomy 13' SubClassOf 'trisomy' http://www.orpha.net/ORDO/Orphanet_3380 Trisomy 18 'Trisomy 18' SubClassOf 'trisomy' http://www.orpha.net/ORDO/Orphanet_96263 48,XXXY syndrome '48,XXXY syndrome' SubClassOf 'tetrasomy' http://www.orpha.net/ORDO/Orphanet_96264 49,XXXXY syndrome '49,XXXXY syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700085 http://www.orpha.net/ORDO/Orphanet_180766 Malformative syndrome with dentinogenesis imperfecta 'Malformative syndrome with dentinogenesis imperfecta' SubClassOf 'Rare genetic odontologic disease' 'Malformative syndrome with dentinogenesis imperfecta' SubClassOf 'Rare genetic odontologic disease' http://purl.obolibrary.org/obo/MONDO_0021064 jugulotympanic paraganglioma 'jugulotympanic paraganglioma' SubClassOf 'genetic vascular tumor' http://www.orpha.net/ORDO/Orphanet_167759 Hereditary dentin defect 'Hereditary dentin defect' SubClassOf 'Rare genetic odontologic disease' 'Hereditary dentin defect' SubClassOf 'tooth disease' http://purl.obolibrary.org/obo/MONDO_0021053 carotid body paraganglioma 'carotid body paraganglioma' SubClassOf 'genetic vascular tumor' http://www.orpha.net/ORDO/Orphanet_1062 Hereditary neurocutaneous angioma 'Hereditary neurocutaneous angioma' SubClassOf 'genetic vascular tumor' 'Hereditary neurocutaneous angioma' SubClassOf 'vascular neoplasm' http://www.orpha.net/ORDO/Orphanet_1063 Tufted angioma 'Tufted angioma' SubClassOf 'genetic vascular tumor' 'Tufted angioma' SubClassOf 'Genetic skin tumor' 'Tufted angioma' SubClassOf 'Genetic vascular anomaly' 'Tufted angioma' SubClassOf 'genetic skin disease' 'Tufted angioma' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_1077 Dental ankylosis 'Dental ankylosis' SubClassOf 'Rare genetic odontologic disease' 'Dental ankylosis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011581 arrhythmogenic cardiomyopathy with woolly hair and keratoderma 'arrhythmogenic cardiomyopathy with woolly hair and keratoderma' SubClassOf 'Focal palmoplantar keratoderma' 'arrhythmogenic cardiomyopathy with woolly hair and keratoderma' SubClassOf 'Syndrome associated with dilated cardiomyopathy' 'arrhythmogenic cardiomyopathy with woolly hair and keratoderma' SubClassOf 'syndrome with woolly hair' 'arrhythmogenic cardiomyopathy with woolly hair and keratoderma' SubClassOf 'syndrome with woolly hair' http://www.orpha.net/ORDO/Orphanet_263746 Y chromosome number anomaly 'Y chromosome number anomaly' SubClassOf 'aneuploidy' http://www.orpha.net/ORDO/Orphanet_275729 Rare hemorrhagic disorder due to a constitutional thrombocytopenia 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' SubClassOf 'hemorrhagic disorder due to a platelet anomaly' 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' SubClassOf 'Rare genetic coagulation disorder' 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' SubClassOf 'inherited bleeding disorder, platelet-type' http://www.orpha.net/ORDO/Orphanet_238722 Familial congenital mirror movements 'Familial congenital mirror movements' SubClassOf 'Rare genetic tremor disorder' 'Familial congenital mirror movements' SubClassOf 'movement disorder' http://www.orpha.net/ORDO/Orphanet_263714 X chromosome number anomaly 'X chromosome number anomaly' SubClassOf 'aneuploidy' http://purl.obolibrary.org/obo/MONDO_0018729 genetic vascular tumor 'genetic vascular tumor' EquivalentTo 'vascular neoplasm' and ('has modifier' some 'inherited') 'genetic vascular tumor' SubClassOf 'Genetic vascular anomaly' 'genetic vascular tumor' SubClassOf 'vascular neoplasm' http://www.orpha.net/ORDO/Orphanet_73 Gorham-Stout disease 'Gorham-Stout disease' SubClassOf 'genetic vascular tumor' 'Gorham-Stout disease' SubClassOf 'Genetic vascular anomaly' http://purl.obolibrary.org/obo/MONDO_0018795 syndromic constitutional thrombocytopenia 'syndromic constitutional thrombocytopenia' SubClassOf 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' http://purl.obolibrary.org/obo/MONDO_0018794 cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder 'cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder' SubClassOf 'hemorrhagic disorder due to a platelet anomaly' http://purl.obolibrary.org/obo/MONDO_0018796 isolated constitutional thrombocytopenia 'isolated constitutional thrombocytopenia' SubClassOf 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' http://www.orpha.net/ORDO/Orphanet_11 Pentasomy X 'Pentasomy X' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700085 http://www.orpha.net/ORDO/Orphanet_79430 Hermansky-Pudlak syndrome 'Hermansky-Pudlak syndrome' SubClassOf 'Rare genetic coagulation disorder' http://www.orpha.net/ORDO/Orphanet_182050 MYH9-related disease 'MYH9-related disease' SubClassOf 'inherited bleeding disorder, platelet-type' http://www.ebi.ac.uk/efo/EFO_0004996 type 1 diabetes nephropathy 'type 1 diabetes nephropathy' SubClassOf 'diabetic nephropathy' 'type 1 diabetes nephropathy' SubClassOf 'disease arises from feature' some 'type I diabetes mellitus' 'type 1 diabetes nephropathy' SubClassOf 'type II hypersensitivity reaction disease' 'type 1 diabetes nephropathy' EquivalentTo 'diabetic nephropathy' and ('disease arises from feature' some 'type I diabetes mellitus') 'type 1 diabetes nephropathy' SubClassOf 'diabetic nephropathy' 'type 1 diabetes nephropathy' SubClassOf 'hypersensitivity reaction disease' http://www.ebi.ac.uk/efo/EFO_0004997 type 2 diabetes nephropathy 'type 2 diabetes nephropathy' SubClassOf 'disease arises from feature' some 'type II diabetes mellitus' 'type 2 diabetes nephropathy' SubClassOf 'diabetic nephropathy' 'type 2 diabetes nephropathy' EquivalentTo 'diabetic nephropathy' and ('disease arises from feature' some 'type II diabetes mellitus') 'type 2 diabetes nephropathy' SubClassOf 'diabetic nephropathy' http://www.ebi.ac.uk/efo/EFO_0004895 Tourette syndrome 'Tourette syndrome' SubClassOf 'Rare genetic tremor disorder' 'Tourette syndrome' SubClassOf 'Rare genetic movement disorder' 'Tourette syndrome' SubClassOf 'Rare genetic neurological disorder' 'Tourette syndrome' SubClassOf 'movement disorder' http://www.orpha.net/ORDO/Orphanet_1711 Mosaic trisomy 17 'Mosaic trisomy 17' SubClassOf 'trisomy' http://www.orpha.net/ORDO/Orphanet_1708 Mosaic trisomy 16 'Mosaic trisomy 16' SubClassOf http://purl.obolibrary.org/obo/MONDO_0022180 http://www.orpha.net/ORDO/Orphanet_1706 Mosaic trisomy 15 'Mosaic trisomy 15' SubClassOf 'trisomy' http://www.orpha.net/ORDO/Orphanet_1703 Mosaic trisomy 14 'Mosaic trisomy 14' SubClassOf 'trisomy' http://www.orpha.net/ORDO/Orphanet_1723 Mosaic trisomy 2 'Mosaic trisomy 2' SubClassOf 'trisomy' http://www.orpha.net/ORDO/Orphanet_1724 Mosaic trisomy 20 'Mosaic trisomy 20' SubClassOf http://purl.obolibrary.org/obo/MONDO_0022757 http://www.orpha.net/ORDO/Orphanet_1747 Mosaic trisomy 7 'Mosaic trisomy 7' SubClassOf 'trisomy' http://www.orpha.net/ORDO/Orphanet_1772 45,X/46,XY mixed gonadal dysgenesis '45,X/46,XY mixed gonadal dysgenesis' SubClassOf 'monosomy' '45,X/46,XY mixed gonadal dysgenesis' SubClassOf 'has modifier' some 'mosaic' http://www.orpha.net/ORDO/Orphanet_1606 1p36 deletion syndrome '1p36 deletion syndrome' SubClassOf 'epilepsy' '1p36 deletion syndrome' SubClassOf 'Syndrome associated with dilated cardiomyopathy' '1p36 deletion syndrome' SubClassOf 'Rare genetic neurological disorder' '1p36 deletion syndrome' SubClassOf 'congenital nervous system disorder' '1p36 deletion syndrome' SubClassOf 'Syndrome associated with dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 'camptodactyly-arthropathy-coxa vara-pericarditis syndrome' SubClassOf 'hereditary connective tissue disorder' 'camptodactyly-arthropathy-coxa vara-pericarditis syndrome' SubClassOf 'has modifier' some 'rare' 'camptodactyly-arthropathy-coxa vara-pericarditis syndrome' SubClassOf 'autosomal recessive disease' 'camptodactyly-arthropathy-coxa vara-pericarditis syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'camptodactyly-arthropathy-coxa vara-pericarditis syndrome' SubClassOf 'rheumatic disease' http://www.orpha.net/ORDO/Orphanet_1692 Mosaic trisomy 1 'Mosaic trisomy 1' SubClassOf 'trisomy' http://www.orpha.net/ORDO/Orphanet_1698 Mosaic trisomy 12 'Mosaic trisomy 12' SubClassOf 'trisomy' http://www.ebi.ac.uk/efo/EFO_1000464 PEComa 'PEComa' SubClassOf 'Soft Tissue Neoplasm' 'PEComa' SubClassOf 'Soft Tissue Neoplasm' http://www.orpha.net/ORDO/Orphanet_79159 Isobutyryl-CoA dehydrogenase deficiency 'Isobutyryl-CoA dehydrogenase deficiency' SubClassOf 'Syndrome associated with dilated cardiomyopathy' 'Isobutyryl-CoA dehydrogenase deficiency' SubClassOf 'Syndrome associated with dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0008734 adrenocortical carcinoma, hereditary 'adrenocortical carcinoma, hereditary' SubClassOf 'genetic vascular tumor' http://www.orpha.net/ORDO/Orphanet_251004 Paternal uniparental disomy of chromosome 1 'Paternal uniparental disomy of chromosome 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700086 http://www.orpha.net/ORDO/Orphanet_251009 Maternal uniparental disomy of chromosome 1 'Maternal uniparental disomy of chromosome 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700086 http://www.orpha.net/ORDO/Orphanet_1864 Congenital valvular dysplasia 'Congenital valvular dysplasia' SubClassOf 'Genetic cardiac anomaly' 'Congenital valvular dysplasia' SubClassOf 'congenital tricuspid malformation' 'Congenital valvular dysplasia' SubClassOf 'Genetic cardiac anomaly' http://purl.obolibrary.org/obo/MONDO_0014386 platelet-type bleeding disorder 18 'platelet-type bleeding disorder 18' SubClassOf 'hemorrhagic disorder due to a platelet anomaly' http://purl.obolibrary.org/obo/MONDO_0016767 cutaneous lichen planus 'cutaneous lichen planus' SubClassOf 'lichen planus' 'cutaneous lichen planus' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_268322 Hereditary thrombocytopenia with normal platelets 'Hereditary thrombocytopenia with normal platelets' SubClassOf 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' http://www.orpha.net/ORDO/Orphanet_77830 Rare genetic odontologic disease 'Rare genetic odontologic disease' SubClassOf 'tooth disease' 'Rare genetic odontologic disease' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_99228 Mosaic monosomy X 'Mosaic monosomy X' SubClassOf 'Turner syndrome' 'Mosaic monosomy X' SubClassOf 'monosomy' 'Mosaic monosomy X' SubClassOf 'Monosomy X' http://www.ebi.ac.uk/efo/EFO_0005410 tooth agenesis 'tooth agenesis' SubClassOf 'Rare genetic odontologic disease' 'tooth agenesis' SubClassOf 'tooth disease' 'tooth agenesis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016629 hemorrhagic disorder due to a platelet anomaly 'hemorrhagic disorder due to a platelet anomaly' SubClassOf 'hemorrhagic disease' http://purl.obolibrary.org/obo/MONDO_0016635 thrombotic disorder due to a platelet anomaly 'thrombotic disorder due to a platelet anomaly' SubClassOf 'thrombotic disease' 'thrombotic disorder due to a platelet anomaly' SubClassOf 'blood coagulation disease' http://purl.obolibrary.org/obo/MONDO_0016632 thrombotic disorder due to a coagulation factors defect 'thrombotic disorder due to a coagulation factors defect' SubClassOf 'blood coagulation disease' 'thrombotic disorder due to a coagulation factors defect' SubClassOf 'thrombotic disease' http://purl.obolibrary.org/obo/MONDO_0014078 platelet-type bleeding disorder 15 'platelet-type bleeding disorder 15' SubClassOf 'inherited bleeding disorder, platelet-type' http://www.orpha.net/ORDO/Orphanet_90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'Non-acquired premature ovarian failure' 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'male infertility' 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'female infertility' 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'Non-acquired premature ovarian failure' http://www.orpha.net/ORDO/Orphanet_220443 Bleeding diathesis due to thromboxane synthesis deficiency 'Bleeding diathesis due to thromboxane synthesis deficiency' SubClassOf 'inherited bleeding disorder, platelet-type' 'Bleeding diathesis due to thromboxane synthesis deficiency' SubClassOf 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' http://www.orpha.net/ORDO/Orphanet_220436 Quebec platelet disorder 'Quebec platelet disorder' SubClassOf 'inherited bleeding disorder, platelet-type' http://www.orpha.net/ORDO/Orphanet_220452 Inherited giant platelet disorder 'Inherited giant platelet disorder' SubClassOf 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' http://purl.obolibrary.org/obo/MONDO_0100310 hereditary cerebellar ataxia 'hereditary cerebellar ataxia' SubClassOf 'Rare genetic movement disorder' 'hereditary cerebellar ataxia' SubClassOf 'Rare genetic tremor disorder' http://www.orpha.net/ORDO/Orphanet_391799 Rare genetic dystonia 'Rare genetic dystonia' SubClassOf 'Rare genetic tremor disorder' http://www.orpha.net/ORDO/Orphanet_329813 Mosaic genome-wide paternal uniparental disomy 'Mosaic genome-wide paternal uniparental disomy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700086 http://purl.obolibrary.org/obo/MONDO_0018896 thrombotic thrombocytopenic purpura 'thrombotic thrombocytopenic purpura' SubClassOf 'thrombotic disorder due to a platelet anomaly' http://www.ebi.ac.uk/efo/EFO_0003108 essential tremor 'essential tremor' SubClassOf 'Rare genetic tremor disorder' 'essential tremor' SubClassOf 'Rare genetic movement disorder' 'essential tremor' SubClassOf 'movement disorder' 'essential tremor' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_53372 Hereditary geniospasm 'Hereditary geniospasm' SubClassOf 'Rare genetic movement disorder' 'Hereditary geniospasm' SubClassOf 'Rare genetic tremor disorder' 'Hereditary geniospasm' SubClassOf 'movement disorder' 'Hereditary geniospasm' SubClassOf 'Rare genetic tremor disorder' 'Hereditary geniospasm' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_102020 Autosomal monosomy 'Autosomal monosomy' EquivalentTo 'monosomy' and 'Autosomal anomaly' 'Autosomal monosomy' SubClassOf 'monosomy' http://www.orpha.net/ORDO/Orphanet_73224 Tubular renal disease - cardiomyopathy 'Tubular renal disease - cardiomyopathy' SubClassOf 'Syndrome associated with dilated cardiomyopathy' 'Tubular renal disease - cardiomyopathy' SubClassOf 'syndromic disease' 'Tubular renal disease - cardiomyopathy' SubClassOf 'Syndrome associated with dilated cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_73271 Bleeding diathesis due to a collagen receptor defect 'Bleeding diathesis due to a collagen receptor defect' SubClassOf 'hemorrhagic disorder due to a platelet anomaly' http://www.orpha.net/ORDO/Orphanet_99797 Anodontia 'Anodontia' SubClassOf 'Rare genetic odontologic disease' 'Anodontia' SubClassOf 'tooth disease' 'Anodontia' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_99792 Dentin dysplasia - sclerotic bones 'Dentin dysplasia - sclerotic bones' SubClassOf 'Rare genetic odontologic disease' 'Dentin dysplasia - sclerotic bones' SubClassOf 'Rare genetic odontologic disease' 'Dentin dysplasia - sclerotic bones' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_99791 Dentin dysplasia type II 'Dentin dysplasia type II' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_99776 Mosaic trisomy 9 'Mosaic trisomy 9' SubClassOf 'trisomy' http://www.orpha.net/ORDO/Orphanet_99789 Dentin dysplasia type I 'Dentin dysplasia type I' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_3289 Taurodontism 'Taurodontism' SubClassOf 'Rare genetic odontologic disease' 'Taurodontism' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0007297 HELLP syndrome 'HELLP syndrome' SubClassOf 'hemorrhagic disorder due to a platelet anomaly' http://www.orpha.net/ORDO/Orphanet_3320 Thrombocytopenia - absent radius 'Thrombocytopenia - absent radius' SubClassOf 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' http://www.orpha.net/ORDO/Orphanet_3324 Familial thrombomodulin anomalies 'Familial thrombomodulin anomalies' SubClassOf 'thrombotic disorder due to a coagulation factors defect' http://www.orpha.net/ORDO/Orphanet_3307 Tetrasomy 18p 'Tetrasomy 18p' SubClassOf 'tetrasomy' http://www.orpha.net/ORDO/Orphanet_3310 Tetrasomy 9p 'Tetrasomy 9p' SubClassOf 'tetrasomy' http://www.orpha.net/ORDO/Orphanet_3319 Congenital amegakaryocytic thrombocytopenia 'Congenital amegakaryocytic thrombocytopenia' SubClassOf 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' http://www.orpha.net/ORDO/Orphanet_3309 Tetrasomy 5p 'Tetrasomy 5p' SubClassOf 'tetrasomy' http://www.orpha.net/ORDO/Orphanet_36355 P2Y12 defect 'P2Y12 defect' SubClassOf 'hemorrhagic disorder due to a platelet anomaly' http://www.orpha.net/ORDO/Orphanet_3197 Hereditary hyperekplexia 'Hereditary hyperekplexia' SubClassOf 'Rare genetic tremor disorder' http://www.orpha.net/ORDO/Orphanet_3204 Stormorken-Sjaastad-Langslet syndrome 'Stormorken-Sjaastad-Langslet syndrome' SubClassOf 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' http://www.orpha.net/ORDO/Orphanet_3226 Deafness - lymphedema - leukemia 'Deafness - lymphedema - leukemia' SubClassOf 'genetic vascular tumor' 'Deafness - lymphedema - leukemia' SubClassOf 'vascular neoplasm' http://www.orpha.net/ORDO/Orphanet_261524 Paternal uniparental disomy of chromosome X 'Paternal uniparental disomy of chromosome X' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700086 http://www.orpha.net/ORDO/Orphanet_261519 Maternal uniparental disomy of chromosome X 'Maternal uniparental disomy of chromosome X' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700086 http://www.ebi.ac.uk/efo/EFO_0007458 pulmonary blastoma 'pulmonary blastoma' SubClassOf 'bronchopulmonary tumor' http://www.orpha.net/ORDO/Orphanet_99324 Paternal uniparental disomy of chromosome 13 'Paternal uniparental disomy of chromosome 13' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700086 http://www.orpha.net/ORDO/Orphanet_99329 48,XYYY syndrome '48,XYYY syndrome' SubClassOf 'tetrasomy' http://www.orpha.net/ORDO/Orphanet_329324 Inverse Klippel-Trénaunay syndrome 'Inverse Klippel-Trénaunay syndrome' SubClassOf 'genetic vascular tumor' http://www.orpha.net/ORDO/Orphanet_99330 49,XYYYY syndrome '49,XYYYY syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700085 http://www.orpha.net/ORDO/Orphanet_329319 Hereditary thrombocytosis with transverse limb defect 'Hereditary thrombocytosis with transverse limb defect' SubClassOf 'thrombotic disorder due to a platelet anomaly' http://www.orpha.net/ORDO/Orphanet_163634 Maffucci syndrome 'Maffucci syndrome' SubClassOf 'genetic vascular tumor' 'Maffucci syndrome' SubClassOf 'Genetic vascular anomaly' http://www.orpha.net/ORDO/Orphanet_100071 Mosaic trisomy 3 'Mosaic trisomy 3' SubClassOf 'trisomy' http://www.orpha.net/ORDO/Orphanet_75501 Ehlers-Danlos syndrome, fibronectinemic type 'Ehlers-Danlos syndrome, fibronectinemic type' SubClassOf 'hemorrhagic disorder due to a platelet anomaly' http://purl.obolibrary.org/obo/MONDO_0014518 platelet-type bleeding disorder 19 'platelet-type bleeding disorder 19' SubClassOf 'inherited bleeding disorder, platelet-type' http://www.orpha.net/ORDO/Orphanet_71493 Familial thrombocytosis 'Familial thrombocytosis' SubClassOf 'thrombotic disorder due to a platelet anomaly' http://www.orpha.net/ORDO/Orphanet_95429 Angioma serpiginosum 'Angioma serpiginosum' SubClassOf 'genetic vascular tumor' 'Angioma serpiginosum' SubClassOf 'Genetic vascular anomaly' http://www.orpha.net/ORDO/Orphanet_168796 Heart-hand syndrome, Slovenian type 'Heart-hand syndrome, Slovenian type' SubClassOf 'Syndrome associated with dilated cardiomyopathy' 'Heart-hand syndrome, Slovenian type' SubClassOf 'Syndrome associated with dilated cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_2590 Hereditary myoclonus - progressive distal muscular atrophy 'Hereditary myoclonus - progressive distal muscular atrophy' SubClassOf 'Rare genetic tremor disorder' 'Hereditary myoclonus - progressive distal muscular atrophy' SubClassOf 'movement disorder' http://www.orpha.net/ORDO/Orphanet_2515 Microcephaly - cardiomyopathy 'Microcephaly - cardiomyopathy' SubClassOf 'Syndrome associated with dilated cardiomyopathy' 'Microcephaly - cardiomyopathy' SubClassOf 'Syndrome associated with dilated cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency 'Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency' SubClassOf 'thrombotic disorder due to a coagulation factors defect' 'Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency' SubClassOf 'neurovascular disease' http://www.orpha.net/ORDO/Orphanet_83628 PELVIS syndrome 'PELVIS syndrome' SubClassOf 'neurovascular disease' 'PELVIS syndrome' SubClassOf 'genetic vascular tumor' http://www.orpha.net/ORDO/Orphanet_46724 Cerebral arteriovenous malformation 'Cerebral arteriovenous malformation' SubClassOf 'genetic vascular tumor' 'Cerebral arteriovenous malformation' SubClassOf 'Genetic vascular anomaly' http://purl.obolibrary.org/obo/MONDO_0019098 autoimmune thrombocytopenia 'autoimmune thrombocytopenia' SubClassOf 'hemorrhagic disorder due to a platelet anomaly' http://www.orpha.net/ORDO/Orphanet_166265 Dentinogenesis imperfecta type 3 'Dentinogenesis imperfecta type 3' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_166260 Dentinogenesis imperfecta type 2 'Dentinogenesis imperfecta type 2' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_2771 Bruck syndrome 'Bruck syndrome' SubClassOf 'Rare genetic odontologic disease' http://www.orpha.net/ORDO/Orphanet_97678 Maternal uniparental disomy of chromosome 13 'Maternal uniparental disomy of chromosome 13' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700086 http://www.orpha.net/ORDO/Orphanet_2229 Dilated cardiomyopathy - hypergonadotropic hypogonadism 'Dilated cardiomyopathy - hypergonadotropic hypogonadism' SubClassOf 'Syndrome associated with dilated cardiomyopathy' 'Dilated cardiomyopathy - hypergonadotropic hypogonadism' SubClassOf 'endocrine system disease' 'Dilated cardiomyopathy - hypergonadotropic hypogonadism' SubClassOf 'male reproductive system disease' 'Dilated cardiomyopathy - hypergonadotropic hypogonadism' SubClassOf 'heart disease' 'Dilated cardiomyopathy - hypergonadotropic hypogonadism' SubClassOf 'has modifier' some 'rare' 'Dilated cardiomyopathy - hypergonadotropic hypogonadism' SubClassOf 'Syndrome associated with dilated cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_71289 Radio-ulnar synostosis - amegakaryocytic thrombocytopenia 'Radio-ulnar synostosis - amegakaryocytic thrombocytopenia' SubClassOf 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' http://www.ebi.ac.uk/efo/EFO_1001006 Klinefelter's syndrome 'Klinefelter's syndrome' SubClassOf 'trisomy' http://www.orpha.net/ORDO/Orphanet_2287 Fused mandibular incisors 'Fused mandibular incisors' SubClassOf 'Rare genetic odontologic disease' 'Fused mandibular incisors' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010122 congenital thrombotic thrombocytopenic purpura 'congenital thrombotic thrombocytopenic purpura' SubClassOf 'thrombotic disorder due to a platelet anomaly' http://www.orpha.net/ORDO/Orphanet_274 Bernard-Soulier syndrome 'Bernard-Soulier syndrome' SubClassOf 'inherited bleeding disorder, platelet-type' http://www.orpha.net/ORDO/Orphanet_287 Ehlers-Danlos syndrome, classic type 'Ehlers-Danlos syndrome, classic type' SubClassOf 'Rare genetic odontologic disease' http://www.orpha.net/ORDO/Orphanet_308 Unverricht-Lundborg disease 'Unverricht-Lundborg disease' SubClassOf 'Rare genetic tremor disorder' 'Unverricht-Lundborg disease' SubClassOf 'movement disorder' http://www.orpha.net/ORDO/Orphanet_330 Congenital factor XII deficiency 'Congenital factor XII deficiency' SubClassOf 'thrombotic disorder due to a coagulation factors defect' http://www.orpha.net/ORDO/Orphanet_29072 Hereditary pheochromocytoma-paraganglioma 'Hereditary pheochromocytoma-paraganglioma' SubClassOf http://www.ebi.ac.uk/efo/EFO_0020005 http://purl.obolibrary.org/obo/MONDO_0017292 well-differentiated fetal adenocarcinoma of the lung 'well-differentiated fetal adenocarcinoma of the lung' SubClassOf 'bronchopulmonary tumor' http://www.orpha.net/ORDO/Orphanet_678 Papillon-Lefèvre syndrome 'Papillon-Lefèvre syndrome' SubClassOf 'Rare genetic odontologic disease' http://www.orpha.net/ORDO/Orphanet_217467 Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency 'Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency' SubClassOf 'thrombotic disorder due to a coagulation factors defect' http://www.orpha.net/ORDO/Orphanet_501 Lafora disease 'Lafora disease' SubClassOf 'Rare genetic tremor disorder' 'Lafora disease' SubClassOf 'movement disorder' http://www.orpha.net/ORDO/Orphanet_505 Graham Little-Piccardi-Lassueur syndrome 'Graham Little-Piccardi-Lassueur syndrome' SubClassOf 'cutaneous lichen planus' 'Graham Little-Piccardi-Lassueur syndrome' SubClassOf 'lichen planus, familial' http://www.orpha.net/ORDO/Orphanet_558 Marfan syndrome 'Marfan syndrome' SubClassOf 'Rare disease with thoracic aortic aneurysm and aortic dissection' 'Marfan syndrome' SubClassOf 'developmental defect during embryogenesis' 'Marfan syndrome' SubClassOf 'Lens position anomaly' 'Marfan syndrome' SubClassOf 'Syndromic myopia' 'Marfan syndrome' SubClassOf 'Syndromic keratoconus' 'Marfan syndrome' SubClassOf 'Connective tissue disease with eye involvement' 'Marfan syndrome' SubClassOf 'Rare disease with thoracic aortic aneurysm and aortic dissection' 'Marfan syndrome' SubClassOf 'syndromic disease' 'Marfan syndrome' SubClassOf 'Lens position anomaly' 'Marfan syndrome' SubClassOf 'Syndromic myopia' 'Marfan syndrome' SubClassOf 'Syndromic keratoconus' 'Marfan syndrome' SubClassOf 'Connective tissue disease with eye involvement' http://www.orpha.net/ORDO/Orphanet_93256 Fragile X-associated tremor/ataxia syndrome 'Fragile X-associated tremor/ataxia syndrome' SubClassOf 'Rare genetic tremor disorder' http://www.orpha.net/ORDO/Orphanet_8 47,XYY syndrome '47,XYY syndrome' SubClassOf 'syndromic disease' '47,XYY syndrome' SubClassOf 'trisomy' http://www.orpha.net/ORDO/Orphanet_9 Tetrasomy X 'Tetrasomy X' SubClassOf 'tetrasomy' 'Tetrasomy X' SubClassOf 'tetrasomy' http://www.orpha.net/ORDO/Orphanet_884 Tetrasomy 12p 'Tetrasomy 12p' SubClassOf 'tetrasomy' http://www.orpha.net/ORDO/Orphanet_806 Scott syndrome 'Scott syndrome' SubClassOf 'hemorrhagic disorder due to a platelet anomaly' http://www.ebi.ac.uk/efo/EFO_0003857 arthrogryposis 'arthrogryposis' SubClassOf 'Rare genetic movement disorder' 'arthrogryposis' SubClassOf 'Rare genetic tremor disorder' 'arthrogryposis' SubClassOf 'movement disorder' 'arthrogryposis' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_745 Hereditary thrombophilia due to congenital protein C deficiency 'Hereditary thrombophilia due to congenital protein C deficiency' SubClassOf 'thrombotic disorder due to a coagulation factors defect' http://www.orpha.net/ORDO/Orphanet_743 Hereditary thrombophilia due to congenital protein S deficiency 'Hereditary thrombophilia due to congenital protein S deficiency' SubClassOf 'thrombotic disorder due to a coagulation factors defect' http://www.orpha.net/ORDO/Orphanet_217622 Sensorineural deafness with dilated cardiomyopathy 'Sensorineural deafness with dilated cardiomyopathy' SubClassOf 'Syndrome associated with dilated cardiomyopathy' 'Sensorineural deafness with dilated cardiomyopathy' SubClassOf 'Syndrome associated with dilated cardiomyopathy' 'Sensorineural deafness with dilated cardiomyopathy' SubClassOf 'Familial dilated cardiomyopathy' http://www.ebi.ac.uk/efo/EFO_0003759 pervasive developmental disorder - not otherwise specified 'pervasive developmental disorder - not otherwise specified' SubClassOf 'autism spectrum disorder' 'pervasive developmental disorder - not otherwise specified' SubClassOf 'autism spectrum disorder' http://www.orpha.net/ORDO/Orphanet_171836 Amelogenesis imperfecta and gingival hyperplasia syndrome 'Amelogenesis imperfecta and gingival hyperplasia syndrome' SubClassOf 'Rare genetic odontologic disease' 'Amelogenesis imperfecta and gingival hyperplasia syndrome' SubClassOf 'Rare odontal or periodontal disorder' 'Amelogenesis imperfecta and gingival hyperplasia syndrome' SubClassOf 'Amelogenesis imperfecta' http://www.orpha.net/ORDO/Orphanet_721 Gray platelet syndrome 'Gray platelet syndrome' SubClassOf 'inherited bleeding disorder, platelet-type' http://purl.obolibrary.org/obo/MONDO_0019487 epilepsy with myoclonic absences 'epilepsy with myoclonic absences' SubClassOf 'Rare genetic tremor disorder' 'epilepsy with myoclonic absences' SubClassOf 'Rare genetic movement disorder' 'epilepsy with myoclonic absences' SubClassOf 'movement disorder' http://purl.obolibrary.org/obo/MONDO_0009930 pulmonary arteriovenous malformation 'pulmonary arteriovenous malformation' SubClassOf 'genetic vascular tumor' 'pulmonary arteriovenous malformation' SubClassOf 'Genetic vascular anomaly' http://www.orpha.net/ORDO/Orphanet_230839 Ehlers-Danlos syndrome due to tenascin-X deficiency 'Ehlers-Danlos syndrome due to tenascin-X deficiency' SubClassOf 'Rare genetic odontologic disease' http://www.orpha.net/ORDO/Orphanet_906 Wiskott-Aldrich syndrome 'Wiskott-Aldrich syndrome' SubClassOf 'Rare genetic coagulation disorder' http://www.orpha.net/ORDO/Orphanet_905 Wilson disease 'Wilson disease' SubClassOf 'Rare genetic tremor disorder' http://www.orpha.net/ORDO/Orphanet_137608 Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus 'Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus' SubClassOf 'genetic vascular tumor' 'Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus' SubClassOf 'vascular neoplasm' 'Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus' SubClassOf 'Genetic vascular anomaly' http://www.orpha.net/ORDO/Orphanet_412206 Primary failure of tooth eruption 'Primary failure of tooth eruption' SubClassOf 'Rare genetic odontologic disease' 'Primary failure of tooth eruption' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_306750 Primary myoclonus 'Primary myoclonus' SubClassOf 'Rare genetic tremor disorder' 'Primary myoclonus' SubClassOf 'has modifier' some 'rare' 'Primary myoclonus' SubClassOf 'movement disorder' http://www.orpha.net/ORDO/Orphanet_306719 Neurodegenerative disease with chorea 'Neurodegenerative disease with chorea' SubClassOf 'Rare genetic tremor disorder' http://www.orpha.net/ORDO/Orphanet_306768 Rare paroxysmal movement disorder 'Rare paroxysmal movement disorder' SubClassOf 'Rare genetic tremor disorder' http://www.orpha.net/ORDO/Orphanet_306765 Motor stereotypies 'Motor stereotypies' SubClassOf 'Rare genetic tremor disorder' http://purl.obolibrary.org/obo/MONDO_0015523 epithelioid hemangioendothelioma 'epithelioid hemangioendothelioma' SubClassOf 'genetic vascular tumor' 'epithelioid hemangioendothelioma' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015405 cerebrofacial arteriovenous metameric syndrome 'cerebrofacial arteriovenous metameric syndrome' SubClassOf 'genetic vascular tumor' http://www.orpha.net/ORDO/Orphanet_231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700086 http://purl.obolibrary.org/obo/MONDO_0003122 striatonigral degeneration 'striatonigral degeneration' SubClassOf 'Rare genetic tremor disorder' 'striatonigral degeneration' SubClassOf 'Rare genetic movement disorder' http://purl.obolibrary.org/obo/MONDO_0015119 bronchopulmonary tumor 'bronchopulmonary tumor' SubClassOf 'respiratory system neoplasm' 'bronchopulmonary tumor' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_66633 Sensorineural hearing loss - early graying - essential tremor 'Sensorineural hearing loss - early graying - essential tremor' SubClassOf 'Rare genetic tremor disorder' 'Sensorineural hearing loss - early graying - essential tremor' SubClassOf 'Rare genetic movement disorder' 'Sensorineural hearing loss - early graying - essential tremor' SubClassOf 'Rare genetic tremor disorder' 'Sensorineural hearing loss - early graying - essential tremor' SubClassOf 'movement disorder' http://purl.obolibrary.org/obo/MONDO_0054591 Stankiewicz-Isidor syndrome 'Stankiewicz-Isidor syndrome' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0011182 trimethylaminuria 'trimethylaminuria' SubClassOf 'genetic disorder' 'trimethylaminuria' SubClassOf 'Dimethylglycine dehydrogenase deficiency' http://www.orpha.net/ORDO/Orphanet_369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome 'Intellectual disability-hyperkinetic movement-truncal ataxia syndrome' SubClassOf 'Rare genetic tremor disorder' http://purl.obolibrary.org/obo/MONDO_0011071 hereditary thrombocytopenia and hematologic cancer predisposition syndrome 'hereditary thrombocytopenia and hematologic cancer predisposition syndrome' SubClassOf 'Rare genetic coagulation disorder' http://www.orpha.net/ORDO/Orphanet_98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 'Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700086 http://www.orpha.net/ORDO/Orphanet_96179 Maternal uniparental disomy of chromosome 2 'Maternal uniparental disomy of chromosome 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700086 http://www.orpha.net/ORDO/Orphanet_96185 Maternal uniparental disomy of chromosome 16 'Maternal uniparental disomy of chromosome 16' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700086 http://www.orpha.net/ORDO/Orphanet_96186 Maternal uniparental disomy of chromosome 20 'Maternal uniparental disomy of chromosome 20' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700086 http://www.orpha.net/ORDO/Orphanet_96187 Maternal uniparental disomy of chromosome 21 'Maternal uniparental disomy of chromosome 21' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700086 http://www.orpha.net/ORDO/Orphanet_96188 Maternal uniparental disomy of chromosome 22 'Maternal uniparental disomy of chromosome 22' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700086 http://www.orpha.net/ORDO/Orphanet_96180 Maternal uniparental disomy of chromosome 4 'Maternal uniparental disomy of chromosome 4' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700086 http://www.orpha.net/ORDO/Orphanet_96181 Maternal uniparental disomy of chromosome 6 'Maternal uniparental disomy of chromosome 6' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700086 http://www.orpha.net/ORDO/Orphanet_96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700086 http://www.orpha.net/ORDO/Orphanet_96183 Maternal uniparental disomy of chromosome 9 'Maternal uniparental disomy of chromosome 9' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700086 http://www.orpha.net/ORDO/Orphanet_96184 Maternal uniparental disomy of chromosome 14 'Maternal uniparental disomy of chromosome 14' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700086 http://www.orpha.net/ORDO/Orphanet_2024 Hereditary gingival fibromatosis 'Hereditary gingival fibromatosis' SubClassOf 'Rare genetic odontologic disease' 'Hereditary gingival fibromatosis' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_96190 Paternal uniparental disomy of chromosome 5 'Paternal uniparental disomy of chromosome 5' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700086 http://www.orpha.net/ORDO/Orphanet_96191 Paternal uniparental disomy of chromosome 6 'Paternal uniparental disomy of chromosome 6' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700086 http://www.orpha.net/ORDO/Orphanet_96192 Paternal uniparental disomy of chromosome 7 'Paternal uniparental disomy of chromosome 7' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700086 http://www.orpha.net/ORDO/Orphanet_96193 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 'Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700086 http://www.orpha.net/ORDO/Orphanet_96194 Paternal uniparental disomy of chromosome 20 'Paternal uniparental disomy of chromosome 20' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700086 http://www.orpha.net/ORDO/Orphanet_96195 Paternal uniparental disomy of chromosome 21 'Paternal uniparental disomy of chromosome 21' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700086 http://www.orpha.net/ORDO/Orphanet_96123 Monosomy 22 'Monosomy 22' SubClassOf 'monosomy' http://www.orpha.net/ORDO/Orphanet_98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 'Angelman syndrome due to paternal uniparental disomy of chromosome 15' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700086 http://www.orpha.net/ORDO/Orphanet_140436 Primary intraosseous vascular malformation 'Primary intraosseous vascular malformation' SubClassOf 'genetic vascular tumor' 'Primary intraosseous vascular malformation' SubClassOf 'Genetic vascular anomaly' http://www.orpha.net/ORDO/Orphanet_96059 Mosaic trisomy 4 'Mosaic trisomy 4' SubClassOf 'trisomy' http://www.orpha.net/ORDO/Orphanet_96068 Mosaic trisomy 22 'Mosaic trisomy 22' SubClassOf http://purl.obolibrary.org/obo/MONDO_0022759 http://www.orpha.net/ORDO/Orphanet_96060 Mosaic trisomy 5 'Mosaic trisomy 5' SubClassOf 'trisomy' http://www.orpha.net/ORDO/Orphanet_96061 Mosaic trisomy 8 'Mosaic trisomy 8' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043452 http://www.orpha.net/ORDO/Orphanet_96063 Mosaic trisomy 10 'Mosaic trisomy 10' SubClassOf 'trisomy' http://www.orpha.net/ORDO/Orphanet_98130 Autosomal trisomy 'Autosomal trisomy' SubClassOf 'trisomy' 'Autosomal trisomy' EquivalentTo 'trisomy' and 'Autosomal anomaly' http://www.orpha.net/ORDO/Orphanet_88661 Amelogenesis imperfecta 'Amelogenesis imperfecta' SubClassOf 'Rare genetic odontologic disease' http://www.ebi.ac.uk/efo/EFO_0006342 aggressive periodontitis 'aggressive periodontitis' SubClassOf 'Rare genetic odontologic disease' 'aggressive periodontitis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013324 lymphedema-posterior choanal atresia syndrome 'lymphedema-posterior choanal atresia syndrome' SubClassOf 'genetic vascular tumor' 'lymphedema-posterior choanal atresia syndrome' SubClassOf 'Genetic vascular anomaly' http://www.orpha.net/ORDO/Orphanet_140944 CLOVE syndrome 'CLOVE syndrome' SubClassOf 'genetic vascular tumor' 'CLOVE syndrome' SubClassOf 'vascular neoplasm' 'CLOVE syndrome' SubClassOf 'Genetic vascular anomaly' http://purl.obolibrary.org/obo/HP_0004602 Cervical C2/C3 vertebral fusion 'Cervical C2/C3 vertebral fusion' SubClassOf 'Abnormality of the vertebral column' http://purl.obolibrary.org/obo/MONDO_0018582 GCGR-related hyperglucagonemia 'GCGR-related hyperglucagonemia' SubClassOf 'has modifier' some 'rare' 'GCGR-related hyperglucagonemia' SubClassOf 'pancreatic neoplasm' http://purl.obolibrary.org/obo/MONDO_0043452 chromosome 8, trisomy 'chromosome 8, trisomy' SubClassOf 'trisomy' 'chromosome 8, trisomy' SubClassOf 'Autosomal trisomy' http://purl.obolibrary.org/obo/MONDO_0031230 mitochondrial complex II deficiency, nuclear type 'mitochondrial complex II deficiency, nuclear type' SubClassOf 'Mitochondrial myopathy' http://purl.obolibrary.org/obo/MONDO_0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 'dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema' SubClassOf 'Dehydrated hereditary stomatocytosis' http://purl.obolibrary.org/obo/MONDO_0100352 episodic kinesigenic dyskinesia 1 'episodic kinesigenic dyskinesia 1' SubClassOf 'episodic kinesigenic dyskinesia' http://purl.obolibrary.org/obo/MONDO_0100294 mitochondrial complex II deficiency, nuclear type 1 'mitochondrial complex II deficiency, nuclear type 1' SubClassOf 'mitochondrial complex II deficiency, nuclear type' 'mitochondrial complex II deficiency, nuclear type 1' SubClassOf 'Isolated oxidative phosphorylation complex disorder' http://purl.obolibrary.org/obo/MONDO_0100255 adenosine kinase deficiency 'adenosine kinase deficiency' SubClassOf 'Cerebral organic aciduria' 'adenosine kinase deficiency' SubClassOf 'Neurometabolic disease' 'adenosine kinase deficiency' SubClassOf 'disorder of methionine catabolism' 'adenosine kinase deficiency' SubClassOf 'Autosomal recessive non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0100348 neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities 'neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0020005 pheochromocytoma-paraganglioma 'pheochromocytoma-paraganglioma' SubClassOf 'adrenal/paraganglial tumor' http://www.ebi.ac.uk/efo/EFO_0020001 drug resistance 'drug resistance' SubClassOf 'biological process' http://www.ebi.ac.uk/efo/EFO_0020002 lack of efficacy 'lack of efficacy' SubClassOf 'biological process' http://www.ebi.ac.uk/efo/EFO_0020003 drug toxicity 'drug toxicity' SubClassOf 'biological process' http://www.ebi.ac.uk/efo/EFO_0020004 CH12F3 'CH12F3' SubClassOf 'bearer_of' some 'lymphoma' 'CH12F3' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('lymph node' and ('part_of' some 'Mus musculus')))) 'CH12F3' SubClassOf 'CH12.LX' http://www.ebi.ac.uk/efo/EFO_0020000 developmental and epileptic encephalopathy 94 'developmental and epileptic encephalopathy 94' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0700086 uniparental disomy 'uniparental disomy' SubClassOf 'Chromosomal anomaly' http://purl.obolibrary.org/obo/MONDO_0700085 pentasomy 'pentasomy' SubClassOf 'aneuploidy' http://www.ebi.ac.uk/efo/EFO_0030024 analysis of matrices 'analysis of matrices' SubClassOf 'data transformation' http://www.ebi.ac.uk/efo/EFO_0030025 spatial analysis 'spatial analysis' SubClassOf 'data transformation' http://www.ebi.ac.uk/efo/EFO_0030022 raw matrix generation 'raw matrix generation' SubClassOf 'data transformation' http://www.ebi.ac.uk/efo/EFO_0030023 processed matrix generation 'processed matrix generation' SubClassOf 'data transformation' http://www.ebi.ac.uk/efo/EFO_0030028 sci-RNA-seq3 'sci-RNA-seq3' SubClassOf 'sci-RNA-seq' http://www.ebi.ac.uk/efo/EFO_0030029 nanoString digital spatial profiling 'nanoString digital spatial profiling' SubClassOf 'spatial transcriptomics by high-throughput sequencing' http://www.ebi.ac.uk/efo/EFO_0030026 sci-Plex 'sci-Plex' SubClassOf 'sci-RNA-seq' http://www.ebi.ac.uk/efo/EFO_0030027 snmC-Seq2 'snmC-Seq2' SubClassOf 'methylation profiling by high throughput sequencing' 'snmC-Seq2' SubClassOf 'single cell library construction' http://www.ebi.ac.uk/efo/EFO_0030031 SCOPE-chip 'SCOPE-chip' SubClassOf 'single cell library construction' http://www.ebi.ac.uk/efo/EFO_0030030 Quant-seq 'Quant-seq' SubClassOf 'transcription profiling by high throughput sequencing' http://purl.obolibrary.org/obo/MONDO_0044202 episodic kinesigenic dyskinesia 'episodic kinesigenic dyskinesia' SubClassOf 'Paroxysmal dyskinesia' http://purl.obolibrary.org/obo/OBI_0000540 isolation of adherent cells 'isolation of adherent cells' SubClassOf 'isolation of cell population' http://purl.obolibrary.org/obo/MONDO_0022757 chromosome 20 trisomy 'chromosome 20 trisomy' SubClassOf 'trisomy' http://purl.obolibrary.org/obo/MONDO_0022759 trisomy 22 'trisomy 22' SubClassOf 'trisomy' http://purl.obolibrary.org/obo/MONDO_0022180 chromosome 16 trisomy 'chromosome 16 trisomy' SubClassOf 'trisomy' http://purl.obolibrary.org/obo/HP_0011147 Typical absence seizure 'Typical absence seizure' SubClassOf 'Generalized non-motor (absence) seizure' http://purl.obolibrary.org/obo/MONDO_0032698 neurodevelopmental disorder with central and peripheral motor dysfunction 'neurodevelopmental disorder with central and peripheral motor dysfunction' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/HP_0001667 Right ventricular hypertrophy 'Right ventricular hypertrophy' SubClassOf 'Abnormal heart morphology' http://purl.obolibrary.org/obo/MONDO_0020526 acute megakaryoblastic leukemia in down syndrome 'acute megakaryoblastic leukemia in down syndrome' SubClassOf 'acute megakaryoblastic leukaemia' http://purl.obolibrary.org/obo/MONDO_0018729 genetic vascular tumor 'genetic vascular tumor' EquivalentTo 'vascular neoplasm' and ('has modifier' some 'inherited') 'genetic vascular tumor' SubClassOf 'Genetic vascular anomaly' 'genetic vascular tumor' SubClassOf 'vascular neoplasm' http://purl.obolibrary.org/obo/MONDO_0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 'camptodactyly-arthropathy-coxa vara-pericarditis syndrome' SubClassOf 'hereditary connective tissue disorder' 'camptodactyly-arthropathy-coxa vara-pericarditis syndrome' SubClassOf 'has modifier' some 'rare' 'camptodactyly-arthropathy-coxa vara-pericarditis syndrome' SubClassOf 'autosomal recessive disease' 'camptodactyly-arthropathy-coxa vara-pericarditis syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'camptodactyly-arthropathy-coxa vara-pericarditis syndrome' SubClassOf 'rheumatic disease' http://purl.obolibrary.org/obo/MONDO_0016767 cutaneous lichen planus 'cutaneous lichen planus' SubClassOf 'lichen planus' 'cutaneous lichen planus' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016629 hemorrhagic disorder due to a platelet anomaly 'hemorrhagic disorder due to a platelet anomaly' SubClassOf 'hemorrhagic disease' http://purl.obolibrary.org/obo/MONDO_0016635 thrombotic disorder due to a platelet anomaly 'thrombotic disorder due to a platelet anomaly' SubClassOf 'thrombotic disease' 'thrombotic disorder due to a platelet anomaly' SubClassOf 'blood coagulation disease' http://purl.obolibrary.org/obo/MONDO_0016632 thrombotic disorder due to a coagulation factors defect 'thrombotic disorder due to a coagulation factors defect' SubClassOf 'blood coagulation disease' 'thrombotic disorder due to a coagulation factors defect' SubClassOf 'thrombotic disease' http://purl.obolibrary.org/obo/MONDO_0015119 bronchopulmonary tumor 'bronchopulmonary tumor' SubClassOf 'respiratory system neoplasm' 'bronchopulmonary tumor' SubClassOf 'has modifier' some 'rare'