115 475 1 http://www.ebi.ac.uk/efo/EFO_1000160 Cervical Adenoid Basal Carcinoma 'Cervical Adenoid Basal Carcinoma' SubClassOf 'cervical carcinoma' 'Cervical Adenoid Basal Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002951 'Cervical Adenoid Basal Carcinoma' SubClassOf 'bearer_of' some 'rare' 'Cervical Adenoid Basal Carcinoma' SubClassOf 'cervical squamous cell carcinoma' http://dbpedia.org/resource/China China 'China' SubClassOf 'country' 'China' SubClassOf http://purl.obolibrary.org/obo/NCIT_C25464 http://purl.obolibrary.org/obo/HP_0004443 Lambdoidal craniosynostosis 'Lambdoidal craniosynostosis' SubClassOf 'Abnormal skull morphology' 'Lambdoidal craniosynostosis' SubClassOf http://purl.obolibrary.org/obo/HP_0002683 http://purl.obolibrary.org/obo/MONDO_0011778 multiple epiphyseal dysplasia, Al-Gazali type 'multiple epiphyseal dysplasia, Al-Gazali type' SubClassOf 'KIF7-related ciliopathy' http://purl.obolibrary.org/obo/MONDO_0011790 Amish lethal microcephaly 'Amish lethal microcephaly' SubClassOf 'Mendelian neurodevelopmental disorder' 'Amish lethal microcephaly' SubClassOf 'microcephaly' http://purl.obolibrary.org/obo/MONDO_0800461 COL4A1-related disorders 'COL4A1-related disorders' SubClassOf 'genetic disorder' 'COL4A1-related disorders' SubClassOf 'vascular disease' 'COL4A1-related disorders' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0021073 paraneoplastic syndrome 'paraneoplastic syndrome' SubClassOf 'cancer-related condition' http://purl.obolibrary.org/obo/MONDO_0800183 PAX6-related ocular dysgenesis 'PAX6-related ocular dysgenesis' SubClassOf 'eye disease' 'PAX6-related ocular dysgenesis' SubClassOf 'hereditary renal cell carcinoma' 'PAX6-related ocular dysgenesis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100534 'PAX6-related ocular dysgenesis' SubClassOf 'eye carcinoma' http://purl.obolibrary.org/obo/MONDO_0800174 encephalitis, acute, infection-induced, susceptibility to 'encephalitis, acute, infection-induced, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'encephalopathy, acute, infection-induced') http://purl.obolibrary.org/obo/MONDO_0011469 congenital amegakaryocytic thrombocytopenia 'congenital amegakaryocytic thrombocytopenia' SubClassOf 'inherited thrombocytopenia' 'congenital amegakaryocytic thrombocytopenia' SubClassOf 'inherited aplastic anemia' 'congenital amegakaryocytic thrombocytopenia' SubClassOf 'congenital anemia' 'congenital amegakaryocytic thrombocytopenia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/HP_0000248 Brachycephaly 'Brachycephaly' SubClassOf 'Abnormal skull morphology' 'Brachycephaly' SubClassOf http://purl.obolibrary.org/obo/HP_0002683 http://purl.obolibrary.org/obo/HP_0000268 Dolichocephaly 'Dolichocephaly' SubClassOf 'Abnormal skull morphology' 'Dolichocephaly' SubClassOf http://purl.obolibrary.org/obo/HP_0002683 http://purl.obolibrary.org/obo/HP_0000263 Oxycephaly 'Oxycephaly' SubClassOf 'Abnormal skull morphology' 'Oxycephaly' SubClassOf http://purl.obolibrary.org/obo/HP_0002683 http://www.ebi.ac.uk/efo/EFO_0005457 SK-MM-1 'SK-MM-1' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) 'SK-MM-1' SubClassOf 'bearer_of' some 'plasma cell leukemia' 'SK-MM-1' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('bone marrow' and ('part of' some 'Homo sapiens')))) 'SK-MM-1' SubClassOf 'lymphoma or leukaemia cell line' http://purl.obolibrary.org/obo/MONDO_0016649 Warburg micro syndrome 'Warburg micro syndrome' SubClassOf 'syndromic microphthalmia' 'Warburg micro syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700247 http://purl.obolibrary.org/obo/UBERON_2000677 segmental intercostal artery 'segmental intercostal artery' SubClassOf 'part of' some 'thoracic aorta' http://purl.obolibrary.org/obo/MONDO_0100242 glioma susceptibility 'glioma susceptibility' SubClassOf 'inherited disease susceptibility' 'glioma susceptibility' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/HP_0010539 Thin calvarium 'Thin calvarium' SubClassOf 'Abnormal skull morphology' 'Thin calvarium' SubClassOf http://purl.obolibrary.org/obo/HP_0002683 http://purl.obolibrary.org/obo/MONDO_0100173 leukemia, acute myeloid, susceptibility to 'leukemia, acute myeloid, susceptibility to' SubClassOf 'inherited disease susceptibility' 'leukemia, acute myeloid, susceptibility to' SubClassOf 'hereditary neoplastic syndrome' http://www.ebi.ac.uk/efo/EFO_0005704 HuH-7.5 'HuH-7.5' SubClassOf 'derives_from' some ('epithelial cell' and ('part of' some ('liver' and ('part of' some 'Homo sapiens')))) 'HuH-7.5' SubClassOf 'derives_from' some ('hepatocyte' and ('part of' some ('liver' and ('part of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/MONDO_0012524 corticosterone methyloxidase type 2 deficiency 'corticosterone methyloxidase type 2 deficiency' SubClassOf 'familial hyperreninemic hypoaldosteronism type 1' 'corticosterone methyloxidase type 2 deficiency' SubClassOf 'familial hypoaldosteronism' http://purl.obolibrary.org/obo/MONDO_0012316 Majeed syndrome 'Majeed syndrome' SubClassOf 'immune system disease' 'Majeed syndrome' SubClassOf 'hereditary disorder of connective tissue' 'Majeed syndrome' SubClassOf 'hematologic disease' 'Majeed syndrome' SubClassOf 'autoinflammatory syndrome' 'Majeed syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009813 http://purl.obolibrary.org/obo/MONDO_0012335 obesity due to pro-opiomelanocortin deficiency 'obesity due to pro-opiomelanocortin deficiency' SubClassOf 'hereditary non-syndromic obesity' 'obesity due to pro-opiomelanocortin deficiency' SubClassOf 'inherited obesity' http://dbpedia.org/resource/Republic_of_Ireland Republic of Ireland 'Republic of Ireland' SubClassOf 'country' 'Republic of Ireland' SubClassOf http://purl.obolibrary.org/obo/NCIT_C25464 http://dbpedia.org/resource/Iran Iran 'Iran' SubClassOf 'country' 'Iran' SubClassOf http://purl.obolibrary.org/obo/NCIT_C25464 http://purl.obolibrary.org/obo/MONDO_0012183 melanoma, cutaneous malignant, susceptibility to, 3 'melanoma, cutaneous malignant, susceptibility to, 3' SubClassOf 'predisposes towards' some 'cutaneous melanoma' 'melanoma, cutaneous malignant, susceptibility to, 3' SubClassOf 'inherited disease susceptibility' 'melanoma, cutaneous malignant, susceptibility to, 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024462 http://dbpedia.org/resource/Philippines Philippines 'Philippines' SubClassOf 'country' 'Philippines' SubClassOf http://purl.obolibrary.org/obo/NCIT_C25464 http://purl.obolibrary.org/obo/MONDO_0012132 colorectal cancer, susceptibility to, 1 'colorectal cancer, susceptibility to, 1' SubClassOf 'inherited disease susceptibility' 'colorectal cancer, susceptibility to, 1' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/HP_0005465 Facial hyperostosis 'Facial hyperostosis' SubClassOf http://purl.obolibrary.org/obo/HP_0002683 http://purl.obolibrary.org/obo/UBERON_0001184 renal artery 'renal artery' SubClassOf 'part of' some 'abdominal aorta' http://dbpedia.org/resource/South_Korea South Korea 'South Korea' SubClassOf 'country' 'South Korea' SubClassOf http://purl.obolibrary.org/obo/NCIT_C25464 http://purl.obolibrary.org/obo/UBERON_0001323 tibial nerve 'tibial nerve' SubClassOf 'part of' some 'sciatic nerve' http://purl.obolibrary.org/obo/MONDO_0012820 colorectal cancer, susceptibility to, 3 'colorectal cancer, susceptibility to, 3' SubClassOf 'inherited disease susceptibility' 'colorectal cancer, susceptibility to, 3' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0012726 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome 'autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome' SubClassOf 'cardiovascular disease' http://purl.obolibrary.org/obo/HP_0001357 Plagiocephaly 'Plagiocephaly' SubClassOf 'Abnormal skull morphology' 'Plagiocephaly' SubClassOf http://purl.obolibrary.org/obo/HP_0002683 http://purl.obolibrary.org/obo/HP_0025267 Snoring 'Snoring' SubClassOf 'Abnormality of mental function' 'Snoring' SubClassOf http://purl.obolibrary.org/obo/HP_0002360 http://purl.obolibrary.org/obo/MONDO_0007966 susceptibility to uveal melanoma 'susceptibility to uveal melanoma' SubClassOf 'inherited disease susceptibility' 'susceptibility to uveal melanoma' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0007964 melanoma, cutaneous malignant, susceptibility to, 2 'melanoma, cutaneous malignant, susceptibility to, 2' SubClassOf 'inherited disease susceptibility' 'melanoma, cutaneous malignant, susceptibility to, 2' SubClassOf 'predisposes towards' some 'cutaneous melanoma' 'melanoma, cutaneous malignant, susceptibility to, 2' SubClassOf 'autosomal dominant disease' 'melanoma, cutaneous malignant, susceptibility to, 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024462 http://purl.obolibrary.org/obo/HP_0025234 Parasomnia 'Parasomnia' SubClassOf 'Abnormality of mental function' 'Parasomnia' SubClassOf http://purl.obolibrary.org/obo/HP_0002360 http://purl.obolibrary.org/obo/MONDO_0007845 Kaposi sarcoma, susceptibility to 'Kaposi sarcoma, susceptibility to' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/UBERON_0001772 corneal epithelium 'corneal epithelium' SubClassOf 'part of' some 'cornea' http://dbpedia.org/resource/Japan Japan 'Japan' SubClassOf 'country' 'Japan' SubClassOf http://purl.obolibrary.org/obo/NCIT_C25464 http://purl.obolibrary.org/obo/MONDO_0013021 sterile multifocal osteomyelitis with periostitis and pustulosis 'sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf 'hereditary disorder of connective tissue' 'sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf 'autoinflammatory syndrome' 'sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf 'immune system disease' 'sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009813 http://purl.obolibrary.org/obo/MONDO_0013049 DPM3-congenital disorder of glycosylation 'DPM3-congenital disorder of glycosylation' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0013083 neuroblastoma, susceptibility to, 3 'neuroblastoma, susceptibility to, 3' SubClassOf 'inherited disease susceptibility' 'neuroblastoma, susceptibility to, 3' SubClassOf 'hereditary neoplastic syndrome' http://dbpedia.org/resource/India India 'India' SubClassOf 'country' 'India' SubClassOf http://purl.obolibrary.org/obo/NCIT_C25464 http://purl.obolibrary.org/obo/MONDO_0003582 hereditary breast ovarian cancer syndrome 'hereditary breast ovarian cancer syndrome' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0017994 severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency 'severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency' SubClassOf 'hereditary non-syndromic obesity' 'severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency' SubClassOf 'syndromic disease' 'severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/GO_0005844 polysome 'polysome' SubClassOf 'cellular_component' 'polysome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0013991 obesity due to congenital leptin deficiency 'obesity due to congenital leptin deficiency' SubClassOf 'isolated congenital hypogonadotropic hypogonadism' 'obesity due to congenital leptin deficiency' SubClassOf 'hereditary non-syndromic obesity' 'obesity due to congenital leptin deficiency' SubClassOf 'bearer_of' some 'congenital' 'obesity due to congenital leptin deficiency' SubClassOf 'inherited obesity' 'obesity due to congenital leptin deficiency' SubClassOf 'congenital hypogonadotropic hypogonadism' http://purl.obolibrary.org/obo/MONDO_0013992 obesity due to leptin receptor gene deficiency 'obesity due to leptin receptor gene deficiency' SubClassOf 'hereditary non-syndromic obesity' 'obesity due to leptin receptor gene deficiency' SubClassOf 'isolated congenital hypogonadotropic hypogonadism' 'obesity due to leptin receptor gene deficiency' SubClassOf 'congenital hypogonadotropic hypogonadism' 'obesity due to leptin receptor gene deficiency' SubClassOf 'bearer_of' some 'congenital' 'obesity due to leptin receptor gene deficiency' SubClassOf 'inherited obesity' http://purl.obolibrary.org/obo/MONDO_0013759 melanoma, cutaneous malignant, susceptibility to, 8 'melanoma, cutaneous malignant, susceptibility to, 8' SubClassOf 'inherited disease susceptibility' 'melanoma, cutaneous malignant, susceptibility to, 8' SubClassOf 'predisposes towards' some 'cutaneous melanoma' 'melanoma, cutaneous malignant, susceptibility to, 8' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024462 http://purl.obolibrary.org/obo/UBERON_0005870 olfactory pit 'olfactory pit' SubClassOf 'part of' some 'anatomical structure' http://dbpedia.org/resource/United_States United States 'United States' SubClassOf 'country' 'United States' SubClassOf http://purl.obolibrary.org/obo/NCIT_C25464 http://purl.obolibrary.org/obo/MONDO_0033556 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15 'muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15' SubClassOf 'DPM3-congenital disorder of glycosylation' http://purl.obolibrary.org/obo/MONDO_0023910 Martsolf syndrome 'Martsolf syndrome' SubClassOf 'genetic disorder' 'Martsolf syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700247 http://purl.obolibrary.org/obo/MONDO_0008136 isolated optic nerve hypoplasia 'isolated optic nerve hypoplasia' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0002156 D283Med 'D283Med' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) 'D283Med' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('ascitic fluid' and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002158 DB 'DB' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) 'DB' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('ascitic fluid' and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002170 Detroit562 'Detroit562' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) 'Detroit562' SubClassOf 'Homo sapiens cell line' 'Detroit562' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('pleural effusion' and ('part of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/HANCESTRO_0383 Irish 'Irish' SubClassOf 'isDemonymOf' some 'Republic of Ireland' 'Irish' SubClassOf 'isDemonymOf' some 'Republic of Ireland' http://purl.obolibrary.org/obo/HANCESTRO_0487 Indian 'Indian' SubClassOf 'South Asian' 'Indian' SubClassOf 'isDemonymOf' some 'India' 'Indian' SubClassOf 'South Asian' 'Indian' SubClassOf 'isDemonymOf' some 'India' http://purl.obolibrary.org/obo/HANCESTRO_0498 Filipino 'Filipino' SubClassOf 'Asian' 'Filipino' SubClassOf 'isDemonymOf' some 'Philippines' 'Filipino' SubClassOf 'Asian' 'Filipino' SubClassOf 'isDemonymOf' some 'Philippines' http://www.ebi.ac.uk/efo/EFO_0002046 BC-3 'BC-3' SubClassOf 'Homo sapiens cell line' 'BC-3' SubClassOf 'derives_from' some ('lymphocyte' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) 'BC-3' SubClassOf 'derives_from' some ('lymphocyte' and ('part of' some ('pleural effusion' and ('part of' some 'Homo sapiens')))) 'BC-3' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/HANCESTRO_0438 Iranian 'Iranian' SubClassOf 'isDemonymOf' some 'Iran' 'Iranian' SubClassOf 'Greater Middle Eastern (Middle Eastern or North African or Persian)' 'Iranian' SubClassOf 'isDemonymOf' some 'Iran' 'Iranian' SubClassOf 'Greater Middle Eastern (Middle Eastern or North African or Persian)' http://purl.obolibrary.org/obo/HANCESTRO_0462 British 'British' SubClassOf 'isDemonymOf' some 'United Kingdom' 'British' SubClassOf 'isDemonymOf' some 'United Kingdom' http://purl.obolibrary.org/obo/HANCESTRO_0463 American 'American' SubClassOf 'undefined ancestry population' 'American' SubClassOf 'isDemonymOf' some 'United States' 'American' SubClassOf 'undefined ancestry population' 'American' SubClassOf 'isDemonymOf' some 'United States' http://purl.obolibrary.org/obo/HP_0012294 Abnormal occipital bone morphology 'Abnormal occipital bone morphology' SubClassOf 'Abnormal skull morphology' 'Abnormal occipital bone morphology' SubClassOf http://purl.obolibrary.org/obo/HP_0002683 http://www.ebi.ac.uk/efo/EFO_0002314 RCHACV 'RCHACV' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) 'RCHACV' SubClassOf 'derives_from' some ('bone marrow cell' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002341 SKUT1 'SKUT1' SubClassOf 'bearer_of' some 'leiomyosarcoma' 'SKUT1' SubClassOf 'bearer_of' some 'uterine leiomyosarcoma' http://www.ebi.ac.uk/efo/EFO_0002231 MEC1 'MEC1' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) 'MEC1' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('blood' and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002232 MEG01 'MEG01' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) 'MEG01' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('bone marrow' and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002222 KU812 'KU812' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) 'KU812' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('blood' and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002224 Kasumi2 'Kasumi2' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) 'Kasumi2' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('bone marrow' and ('part of' some 'Homo sapiens')))) 'Kasumi2' SubClassOf 'bearer_of' some 'precursor B-cell acute lymphoblastic leukemia' 'Kasumi2' SubClassOf 'lymphoma or leukaemia cell line' http://purl.obolibrary.org/obo/MONDO_0018244 obesity due to SIM1 deficiency 'obesity due to SIM1 deficiency' SubClassOf 'hereditary non-syndromic obesity' 'obesity due to SIM1 deficiency' SubClassOf 'inherited obesity' http://purl.obolibrary.org/obo/HANCESTRO_0003 country 'country' SubClassOf 'organization' 'country' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002835 MRC5 'MRC5' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('lung' and ('part of' some 'organism')))) 'MRC5' SubClassOf 'derives_from' some ('fibroblast' and ('part of' some ('lung' or ('late embryo' and ('part of' some 'Homo sapiens'))))) http://purl.obolibrary.org/obo/MONDO_0018130 brain dopamine-serotonin vesicular transport disease 'brain dopamine-serotonin vesicular transport disease' SubClassOf 'parkinsonism-dystonia, infantile' http://www.ebi.ac.uk/efo/EFO_0002714 Panc89 'Panc89' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) 'Panc89' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('lymph node' and ('part of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/MONDO_0014368 melanoma, cutaneous malignant, susceptibility to, 10 'melanoma, cutaneous malignant, susceptibility to, 10' SubClassOf 'predisposes towards' some 'cutaneous melanoma' 'melanoma, cutaneous malignant, susceptibility to, 10' SubClassOf 'inherited disease susceptibility' 'melanoma, cutaneous malignant, susceptibility to, 10' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024462 http://purl.obolibrary.org/obo/MONDO_0014241 leukemia, acute lymphoblastic, susceptibility to, 3 'leukemia, acute lymphoblastic, susceptibility to, 3' SubClassOf 'inherited disease susceptibility' 'leukemia, acute lymphoblastic, susceptibility to, 3' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0014309 obesity due to CEP19 deficiency 'obesity due to CEP19 deficiency' SubClassOf 'hereditary non-syndromic obesity' 'obesity due to CEP19 deficiency' SubClassOf 'inherited obesity' http://dbpedia.org/resource/United_Kingdom United Kingdom 'United Kingdom' SubClassOf 'country' 'United Kingdom' SubClassOf http://purl.obolibrary.org/obo/NCIT_C25464 http://purl.obolibrary.org/obo/MONDO_0018812 MSH3-related attenuated familial adenomatous polyposis 'MSH3-related attenuated familial adenomatous polyposis' SubClassOf 'attenuated familial adenomatous polyposis' 'MSH3-related attenuated familial adenomatous polyposis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018829 familial schizencephaly 'familial schizencephaly' SubClassOf 'genetic disorder' 'familial schizencephaly' SubClassOf 'COL4A1-related disorders' http://www.ebi.ac.uk/efo/EFO_0003102 osteomyelitis 'osteomyelitis' SubClassOf 'bacterial disease' http://purl.obolibrary.org/obo/UBERON_0004027 chorionic plate 'chorionic plate' SubClassOf 'part of' some 'reproductive system' http://www.ebi.ac.uk/efo/EFO_0007149 appendicitis 'appendicitis' SubClassOf 'diverticulitis' 'appendicitis' SubClassOf 'gastroenteritis' 'appendicitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004235 http://purl.obolibrary.org/obo/MONDO_0000075 neuronopathy, distal hereditary motor 'neuronopathy, distal hereditary motor' SubClassOf 'motor neuron disease' http://purl.obolibrary.org/obo/MONDO_0009839 progressive supranuclear palsy-parkinsonism syndrome 'progressive supranuclear palsy-parkinsonism syndrome' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/UBERON_0003684 abdominal cavity 'abdominal cavity' SubClassOf 'part of' some 'abdomen' http://purl.obolibrary.org/obo/MONDO_0019115 obesity due to melanocortin 4 receptor deficiency 'obesity due to melanocortin 4 receptor deficiency' SubClassOf 'hereditary non-syndromic obesity' 'obesity due to melanocortin 4 receptor deficiency' SubClassOf 'inherited obesity' http://purl.obolibrary.org/obo/MONDO_0009697 Lafora disease 'Lafora disease' SubClassOf 'progressive myoclonus epilepsy' 'Lafora disease' SubClassOf 'progressive myoclonus epilepsy' http://purl.obolibrary.org/obo/MONDO_0019037 progressive supranuclear palsy 'progressive supranuclear palsy' SubClassOf 'neurodegenerative disease' 'progressive supranuclear palsy' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0020075 hereditary non-syndromic obesity 'hereditary non-syndromic obesity' SubClassOf 'inherited obesity' 'hereditary non-syndromic obesity' SubClassOf 'bearer_of' some 'has an isolated presentation' 'hereditary non-syndromic obesity' EquivalentTo 'inherited obesity' and ('bearer_of' some 'has an isolated presentation') 'hereditary non-syndromic obesity' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001460 diverticulitis 'diverticulitis' SubClassOf 'inflammatory disease' 'diverticulitis' SubClassOf 'disease has feature' some 'dysentery' 'diverticulitis' SubClassOf 'disease has feature' some 'constipation disorder' 'diverticulitis' SubClassOf 'gastroenteritis' 'diverticulitis' SubClassOf 'intestinal disease' 'diverticulitis' SubClassOf 'diverticular disease' 'diverticulitis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1' SubClassOf 'muscle-eye-brain disease' http://purl.obolibrary.org/obo/MONDO_0010123 absent thumb-short stature-immunodeficiency syndrome 'absent thumb-short stature-immunodeficiency syndrome' SubClassOf 'genetic disorder' 'absent thumb-short stature-immunodeficiency syndrome' SubClassOf 'syndromic disease' 'absent thumb-short stature-immunodeficiency syndrome' SubClassOf 'immune system disease' 'absent thumb-short stature-immunodeficiency syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020722 nephrolithiasis susceptibility caused by SLC26A1 'nephrolithiasis susceptibility caused by SLC26A1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0957318 http://www.ebi.ac.uk/efo/EFO_0001202 MCF12A 'MCF12A' SubClassOf 'derives_from' some ('epithelial cell' and ('part of' some ('mammary gland' and ('part of' some 'organism')))) 'MCF12A' SubClassOf 'Homo sapiens cell line' 'MCF12A' SubClassOf 'derives_from' some ('mammary gland epithelial cell' and ('part of' some ('mammary gland' and ('part of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/MONDO_0020489 familial hyperreninemic hypoaldosteronism type 1 'familial hyperreninemic hypoaldosteronism type 1' SubClassOf 'familial hypoaldosteronism' 'familial hyperreninemic hypoaldosteronism type 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0010961 obesity due to prohormone convertase I deficiency 'obesity due to prohormone convertase I deficiency' SubClassOf 'isolated congenital hypogonadotropic hypogonadism' 'obesity due to prohormone convertase I deficiency' SubClassOf 'hereditary non-syndromic obesity' 'obesity due to prohormone convertase I deficiency' SubClassOf 'inherited obesity' 'obesity due to prohormone convertase I deficiency' SubClassOf 'congenital hypogonadotropic hypogonadism' 'obesity due to prohormone convertase I deficiency' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0010997 supranuclear palsy, progressive, 1 'supranuclear palsy, progressive, 1' SubClassOf 'inherited neurodegenerative disorder' http://www.ebi.ac.uk/efo/EFO_0006476 RCM-1 'RCM-1' SubClassOf 'Homo sapiens cell line' 'RCM-1' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('colorectum' and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0006494 SU.86.86 'SU.86.86' SubClassOf 'Homo sapiens cell line' 'SU.86.86' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('liver' and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0006490 SK23 'SK23' SubClassOf 'Homo sapiens cell line' 'SK23' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('skin of body' and ('part of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/MONDO_0015356 hereditary neoplastic syndrome 'hereditary neoplastic syndrome' SubClassOf 'neoplastic syndrome' 'hereditary neoplastic syndrome' SubClassOf 'inherited disease susceptibility' 'hereditary neoplastic syndrome' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'neoplasm') 'hereditary neoplastic syndrome' SubClassOf 'neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0015363 neuronopathy, distal hereditary motor, autosomal recessive 'neuronopathy, distal hereditary motor, autosomal recessive' SubClassOf 'neuronopathy, distal hereditary motor' 'neuronopathy, distal hereditary motor, autosomal recessive' SubClassOf 'distal hereditary motor neuropathy' 'neuronopathy, distal hereditary motor, autosomal recessive' SubClassOf 'distal hereditary motor neuropathy' http://purl.obolibrary.org/obo/MONDO_0015362 neuronopathy, distal hereditary motor, autosomal dominant 'neuronopathy, distal hereditary motor, autosomal dominant' SubClassOf 'neuronopathy, distal hereditary motor' 'neuronopathy, distal hereditary motor, autosomal dominant' SubClassOf 'distal hereditary motor neuropathy' 'neuronopathy, distal hereditary motor, autosomal dominant' SubClassOf 'distal hereditary motor neuropathy' http://purl.obolibrary.org/obo/MONDO_0015255 blepharophimosis-radioulnar synostosis syndrome 'blepharophimosis-radioulnar synostosis syndrome' SubClassOf 'dysostosis' 'blepharophimosis-radioulnar synostosis syndrome' SubClassOf 'congenital limb malformation' 'blepharophimosis-radioulnar synostosis syndrome' SubClassOf 'syndromic disease' 'blepharophimosis-radioulnar synostosis syndrome' SubClassOf 'genetic disorder' 'blepharophimosis-radioulnar synostosis syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/HP_0008572 External ear malformation 'External ear malformation' SubClassOf 'Abnormal pinna morphology' 'External ear malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/HP_0430000 Abnormal frontal bone morphology 'Abnormal frontal bone morphology' SubClassOf 'Abnormal skull morphology' 'Abnormal frontal bone morphology' SubClassOf http://purl.obolibrary.org/obo/HP_0002683 http://purl.obolibrary.org/obo/MONDO_0001674 diverticulitis of colon 'diverticulitis of colon' SubClassOf 'diverticulitis' 'diverticulitis of colon' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004235 http://www.ebi.ac.uk/efo/EFO_0006362 A2780 'A2780' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('ovary' and ('part of' some 'Homo sapiens')))) 'A2780' SubClassOf 'Homo sapiens cell line' http://www.ebi.ac.uk/efo/EFO_0006364 C32 'C32' SubClassOf 'Homo sapiens cell line' 'C32' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('skin of body' and ('part of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/MONDO_0011829 coenzyme Q10 deficiency, primary, 1 'coenzyme Q10 deficiency, primary, 1' SubClassOf 'coenzyme Q10 deficiency' http://purl.obolibrary.org/obo/MONDO_0011840 dilated cardiomyopathy 1M 'dilated cardiomyopathy 1M' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0011702 dilated cardiomyopathy 1L 'dilated cardiomyopathy 1L' SubClassOf 'familial dilated cardiomyopathy' 'dilated cardiomyopathy 1L' SubClassOf 'qualitative or quantitative defects of delta-sarcoglycan' http://purl.obolibrary.org/obo/MONDO_0011720 spermatogenic failure 3 'spermatogenic failure 3' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0800415 asthma, aspirin-induced, susceptibility to 'asthma, aspirin-induced, susceptibility to' SubClassOf 'inherited susceptibility to asthma' http://purl.obolibrary.org/obo/MONDO_0800456 SYNCRIP-related neurodevelopmental disorder 'SYNCRIP-related neurodevelopmental disorder' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/NCIT_C25464 Country 'Country' SubClassOf 'organization' http://purl.obolibrary.org/obo/MONDO_0011400 dilated cardiomyopathy 1G 'dilated cardiomyopathy 1G' SubClassOf 'familial dilated cardiomyopathy' 'dilated cardiomyopathy 1G' SubClassOf 'qualitative or quantitative defects of titin' http://purl.obolibrary.org/obo/MONDO_0011482 dilated cardiomyopathy 1I 'dilated cardiomyopathy 1I' SubClassOf 'familial dilated cardiomyopathy' 'dilated cardiomyopathy 1I' SubClassOf 'qualitative or quantitative defects of desmin' http://purl.obolibrary.org/obo/MONDO_0031646 Braddock-Carey syndrome 'Braddock-Carey syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0031010 odontochondrodysplasia 2 with hearing loss and diabetes 'odontochondrodysplasia 2 with hearing loss and diabetes' SubClassOf 'odontochondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0031084 amelogenesis imperfecta, IIa 1K 'amelogenesis imperfecta, IIa 1K' SubClassOf 'amelogenesis imperfecta' http://purl.obolibrary.org/obo/HP_0010465 Precocious puberty in females 'Precocious puberty in females' SubClassOf 'Abnormality of the endocrine system' http://purl.obolibrary.org/obo/MONDO_0100534 SMARCB1-deficient kidney medullary carcinoma 'SMARCB1-deficient kidney medullary carcinoma' SubClassOf 'Kidney Medullary Carcinoma' http://purl.obolibrary.org/obo/MONDO_0858958 high-grade astrocytoma with piloid features 'high-grade astrocytoma with piloid features' SubClassOf 'anaplastic astrocytoma' http://purl.obolibrary.org/obo/MONDO_0100513 TRAF3 haploinsufficiency 'TRAF3 haploinsufficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0100518 hereditary attention deficit-hyperactivity disorder 'hereditary attention deficit-hyperactivity disorder' SubClassOf 'attention deficit hyperactivity disorder' http://purl.obolibrary.org/obo/MONDO_0100253 Roberts-SC phocomelia syndrome 'Roberts-SC phocomelia syndrome' SubClassOf 'syndromic disease' 'Roberts-SC phocomelia syndrome' SubClassOf 'non-syndromic limb reduction defect' 'Roberts-SC phocomelia syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0100216 DICER1-related tumor predisposition 'DICER1-related tumor predisposition' SubClassOf 'syndromic disease' 'DICER1-related tumor predisposition' SubClassOf 'genetic disorder' 'DICER1-related tumor predisposition' SubClassOf 'predisposes towards' some 'cancer' http://purl.obolibrary.org/obo/MONDO_0100024 self-limited familial infantile epilepsy 'self-limited familial infantile epilepsy' SubClassOf 'infantile-onset epilepsy' http://www.ebi.ac.uk/efo/EFO_0803673 plasmodium falciparum seropositivity 'plasmodium falciparum seropositivity' SubClassOf 'protozoan seropositivity' http://www.ebi.ac.uk/efo/EFO_0803674 adenoviridae virus seropositivity 'adenoviridae virus seropositivity' SubClassOf 'virus seropositivity' http://www.ebi.ac.uk/efo/EFO_0803675 alphapapillomavirus 9 virus seropositivity 'alphapapillomavirus 9 virus seropositivity' SubClassOf 'virus seropositivity' http://www.ebi.ac.uk/efo/EFO_0803676 calicivirus seropositivity 'calicivirus seropositivity' SubClassOf 'virus seropositivity' http://www.ebi.ac.uk/efo/EFO_0803677 chikungunya virus seropositivity 'chikungunya virus seropositivity' SubClassOf 'virus seropositivity' http://www.ebi.ac.uk/efo/EFO_0803678 coxsackievirus seropositivity 'coxsackievirus seropositivity' SubClassOf 'virus seropositivity' http://www.ebi.ac.uk/efo/EFO_0803679 dengue virus seropositivity 'dengue virus seropositivity' SubClassOf 'virus seropositivity' http://www.ebi.ac.uk/efo/EFO_0803680 foot-and-mouth disease virus seropositivity 'foot-and-mouth disease virus seropositivity' SubClassOf 'virus seropositivity' http://www.ebi.ac.uk/efo/EFO_0803681 hepatitis A virus seropositivity 'hepatitis A virus seropositivity' SubClassOf 'virus seropositivity' http://www.ebi.ac.uk/efo/EFO_0803682 hepatitis C virus seropositivity 'hepatitis C virus seropositivity' SubClassOf 'virus seropositivity' http://www.ebi.ac.uk/efo/EFO_0803683 hepatitis E virus seropositivity 'hepatitis E virus seropositivity' SubClassOf 'virus seropositivity' http://www.ebi.ac.uk/efo/EFO_0803684 influenza B seropositivity 'influenza B seropositivity' SubClassOf 'virus seropositivity' http://www.ebi.ac.uk/efo/EFO_0803685 pneumoviridae virus seropositivity 'pneumoviridae virus seropositivity' SubClassOf 'virus seropositivity' http://www.ebi.ac.uk/efo/EFO_0803686 poliovirus seropositivity 'poliovirus seropositivity' SubClassOf 'virus seropositivity' http://www.ebi.ac.uk/efo/EFO_0803687 respiratory syncytial virus seropositivity 'respiratory syncytial virus seropositivity' SubClassOf 'virus seropositivity' http://www.ebi.ac.uk/efo/EFO_0803688 SARS coronavirus seropositivity 'SARS coronavirus seropositivity' SubClassOf 'virus seropositivity' http://www.ebi.ac.uk/efo/EFO_0803659 enterococcus phage virus seropositivity 'enterococcus phage virus seropositivity' SubClassOf 'phage seropositivity' http://www.ebi.ac.uk/efo/EFO_0803651 streptococcus seropositivity 'streptococcus seropositivity' SubClassOf 'bacteria seropositivity' http://www.ebi.ac.uk/efo/EFO_0803652 xanthomonas seropositivity 'xanthomonas seropositivity' SubClassOf 'bacteria seropositivity' http://www.ebi.ac.uk/efo/EFO_0803653 yersinia seropositivity 'yersinia seropositivity' SubClassOf 'bacteria seropositivity' http://www.ebi.ac.uk/efo/EFO_0803654 bacillus phage virus seropositivity 'bacillus phage virus seropositivity' SubClassOf 'phage seropositivity' http://www.ebi.ac.uk/efo/EFO_0803655 bacteriodes phage virus seropositivity 'bacteriodes phage virus seropositivity' SubClassOf 'phage seropositivity' http://www.ebi.ac.uk/efo/EFO_0803656 campylobacter phage virus seropositivity 'campylobacter phage virus seropositivity' SubClassOf 'phage seropositivity' http://www.ebi.ac.uk/efo/EFO_0803657 clostridium phage virus seropositivity 'clostridium phage virus seropositivity' SubClassOf 'phage seropositivity' http://www.ebi.ac.uk/efo/EFO_0803658 enterobacter phage virus seropositivity 'enterobacter phage virus seropositivity' SubClassOf 'phage seropositivity' http://www.ebi.ac.uk/efo/EFO_0803660 escherichia phage virus seropositivity 'escherichia phage virus seropositivity' SubClassOf 'phage seropositivity' http://www.ebi.ac.uk/efo/EFO_0803661 geobacillus phage virus seropositivity 'geobacillus phage virus seropositivity' SubClassOf 'phage seropositivity' http://www.ebi.ac.uk/efo/EFO_0803662 klebsiella phage virus seropositivity 'klebsiella phage virus seropositivity' SubClassOf 'phage seropositivity' http://www.ebi.ac.uk/efo/EFO_0803663 lactobacillus phage virus seropositivity 'lactobacillus phage virus seropositivity' SubClassOf 'phage seropositivity' http://www.ebi.ac.uk/efo/EFO_0803664 lactococcus phage virus seropositivity 'lactococcus phage virus seropositivity' SubClassOf 'phage seropositivity' http://www.ebi.ac.uk/efo/EFO_0803665 listeria phage virus seropositivity 'listeria phage virus seropositivity' SubClassOf 'phage seropositivity' http://www.ebi.ac.uk/efo/EFO_0803666 pelagibacter phage virus seropositivity 'pelagibacter phage virus seropositivity' SubClassOf 'phage seropositivity' http://www.ebi.ac.uk/efo/EFO_0803667 proteus phage virus seropositivity 'proteus phage virus seropositivity' SubClassOf 'phage seropositivity' http://www.ebi.ac.uk/efo/EFO_0803668 pseudomonas phage virus seropositivity 'pseudomonas phage virus seropositivity' SubClassOf 'phage seropositivity' http://www.ebi.ac.uk/efo/EFO_0803669 salmonella phage virus seropositivity 'salmonella phage virus seropositivity' SubClassOf 'phage seropositivity' http://www.ebi.ac.uk/efo/EFO_0803670 shigella phage virus seropositivity 'shigella phage virus seropositivity' SubClassOf 'phage seropositivity' http://www.ebi.ac.uk/efo/EFO_0803671 staphylococcus phage virus seropositivity 'staphylococcus phage virus seropositivity' SubClassOf 'phage seropositivity' http://www.ebi.ac.uk/efo/EFO_0803672 streptococcus virus phage virus seropositivity 'streptococcus virus phage virus seropositivity' SubClassOf 'phage seropositivity' http://www.ebi.ac.uk/efo/EFO_0803637 neisseria meningitidis seropositivity 'neisseria meningitidis seropositivity' SubClassOf 'bacteria seropositivity' http://www.ebi.ac.uk/efo/EFO_0803638 odoribacter seropositivity 'odoribacter seropositivity' SubClassOf 'bacteria seropositivity' http://www.ebi.ac.uk/efo/EFO_0803639 parabacteroides seropositivity 'parabacteroides seropositivity' SubClassOf 'bacteria seropositivity' http://www.ebi.ac.uk/efo/EFO_0803630 lachnospiraceae seropositivity 'lachnospiraceae seropositivity' SubClassOf 'bacteria seropositivity' http://www.ebi.ac.uk/efo/EFO_0803631 lactobacillales seropositivity 'lactobacillales seropositivity' SubClassOf 'bacteria seropositivity' http://www.ebi.ac.uk/efo/EFO_0803632 lactobacillus seropositivity 'lactobacillus seropositivity' SubClassOf 'bacteria seropositivity' http://www.ebi.ac.uk/efo/EFO_0803633 legionella seropositivity 'legionella seropositivity' SubClassOf 'bacteria seropositivity' http://www.ebi.ac.uk/efo/EFO_0803634 listeria seropositivity 'listeria seropositivity' SubClassOf 'bacteria seropositivity' http://www.ebi.ac.uk/efo/EFO_0803635 mycobacterium tuberculosis seropositivity 'mycobacterium tuberculosis seropositivity' SubClassOf 'bacteria seropositivity' http://www.ebi.ac.uk/efo/EFO_0803636 mycoplasma pneumoniae seropositivity 'mycoplasma pneumoniae seropositivity' SubClassOf 'bacteria seropositivity' http://www.ebi.ac.uk/efo/EFO_0803648 salmonella seropositivity 'salmonella seropositivity' SubClassOf 'bacteria seropositivity' http://www.ebi.ac.uk/efo/EFO_0803649 shigella seropositivity 'shigella seropositivity' SubClassOf 'bacteria seropositivity' http://www.ebi.ac.uk/efo/EFO_0803640 pneumoviridae seropositivity 'pneumoviridae seropositivity' SubClassOf 'bacteria seropositivity' http://www.ebi.ac.uk/efo/EFO_0803641 porphyromonas gingivalis seropositivity 'porphyromonas gingivalis seropositivity' SubClassOf 'bacteria seropositivity' http://www.ebi.ac.uk/efo/EFO_0803642 prevotella seropositivity 'prevotella seropositivity' SubClassOf 'bacteria seropositivity' http://www.ebi.ac.uk/efo/EFO_0803643 proteobacteria seropositivity 'proteobacteria seropositivity' SubClassOf 'bacteria seropositivity' http://www.ebi.ac.uk/efo/EFO_0803644 pseudomonadaceae seropositivity 'pseudomonadaceae seropositivity' SubClassOf 'bacteria seropositivity' http://www.ebi.ac.uk/efo/EFO_0803645 ralstonia solanacearum seropositivity 'ralstonia solanacearum seropositivity' SubClassOf 'bacteria seropositivity' http://www.ebi.ac.uk/efo/EFO_0803646 roseburia seropositivity 'roseburia seropositivity' SubClassOf 'bacteria seropositivity' http://www.ebi.ac.uk/efo/EFO_0803647 ruminococcaceae seropositivity 'ruminococcaceae seropositivity' SubClassOf 'bacteria seropositivity' http://www.ebi.ac.uk/efo/EFO_0803650 staphylococcus seropositivity 'staphylococcus seropositivity' SubClassOf 'bacteria seropositivity' http://www.ebi.ac.uk/efo/EFO_0803615 campylobacter seropositivity 'campylobacter seropositivity' SubClassOf 'bacteria seropositivity' http://www.ebi.ac.uk/efo/EFO_0803616 clostridiales seropositivity 'clostridiales seropositivity' SubClassOf 'bacteria seropositivity' http://www.ebi.ac.uk/efo/EFO_0803617 coprococcus seropositivity 'coprococcus seropositivity' SubClassOf 'bacteria seropositivity' http://www.ebi.ac.uk/efo/EFO_0803618 dorea seropositivity 'dorea seropositivity' SubClassOf 'bacteria seropositivity' http://www.ebi.ac.uk/efo/EFO_0803619 enterobacteriaceae seropositivity 'enterobacteriaceae seropositivity' SubClassOf 'bacteria seropositivity' http://www.ebi.ac.uk/efo/EFO_0803610 bartonella seropositivity 'bartonella seropositivity' SubClassOf 'bacteria seropositivity' http://www.ebi.ac.uk/efo/EFO_0803611 bifidobacterium seropositivity 'bifidobacterium seropositivity' SubClassOf 'bacteria seropositivity' http://www.ebi.ac.uk/efo/EFO_0803612 blautia seropositivity 'blautia seropositivity' SubClassOf 'bacteria seropositivity' http://www.ebi.ac.uk/efo/EFO_0803613 bordetella seropositivity 'bordetella seropositivity' SubClassOf 'bacteria seropositivity' http://www.ebi.ac.uk/efo/EFO_0803614 butyrivibrio seropositivity 'butyrivibrio seropositivity' SubClassOf 'bacteria seropositivity' http://purl.obolibrary.org/obo/MONDO_0012667 dilated cardiomyopathy 1W 'dilated cardiomyopathy 1W' SubClassOf 'familial dilated cardiomyopathy' http://www.ebi.ac.uk/efo/EFO_0803626 flagellin seropositivity 'flagellin seropositivity' SubClassOf 'bacteria seropositivity' http://www.ebi.ac.uk/efo/EFO_0803627 gammaproteobacteria seropositivity 'gammaproteobacteria seropositivity' SubClassOf 'bacteria seropositivity' http://www.ebi.ac.uk/efo/EFO_0803628 haemophilus influenzae seropositivity 'haemophilus influenzae seropositivity' SubClassOf 'bacteria seropositivity' http://www.ebi.ac.uk/efo/EFO_0803629 haemophilus parainfluenzae seropositivity 'haemophilus parainfluenzae seropositivity' SubClassOf 'bacteria seropositivity' http://www.ebi.ac.uk/efo/EFO_0803620 enterococcus faecalis seropositivity 'enterococcus faecalis seropositivity' SubClassOf 'bacteria seropositivity' http://www.ebi.ac.uk/efo/EFO_0803621 escherichia seropositivity 'escherichia seropositivity' SubClassOf 'bacteria seropositivity' http://www.ebi.ac.uk/efo/EFO_0803622 eubacterium seropositivity 'eubacterium seropositivity' SubClassOf 'bacteria seropositivity' http://www.ebi.ac.uk/efo/EFO_0803623 faecalibacterium seropositivity 'faecalibacterium seropositivity' SubClassOf 'bacteria seropositivity' http://www.ebi.ac.uk/efo/EFO_0803624 fibronectin seropositivity 'fibronectin seropositivity' SubClassOf 'bacteria seropositivity' http://www.ebi.ac.uk/efo/EFO_0803625 firmicutes seropositivity 'firmicutes seropositivity' SubClassOf 'bacteria seropositivity' http://purl.obolibrary.org/obo/MONDO_0012687 familial cavitary optic disk anomaly 'familial cavitary optic disk anomaly' SubClassOf 'genetic disorder' 'familial cavitary optic disk anomaly' SubClassOf 'eye disease' http://www.ebi.ac.uk/efo/EFO_0803604 bacilli seropositivity 'bacilli seropositivity' SubClassOf 'bacteria seropositivity' http://www.ebi.ac.uk/efo/EFO_0803605 bacillus seropositivity 'bacillus seropositivity' SubClassOf 'bacteria seropositivity' http://www.ebi.ac.uk/efo/EFO_0803606 bacteroidaceae seropositivity 'bacteroidaceae seropositivity' SubClassOf 'bacteria seropositivity' http://www.ebi.ac.uk/efo/EFO_0803607 bacteroidales seropositivity 'bacteroidales seropositivity' SubClassOf 'bacteria seropositivity' http://www.ebi.ac.uk/efo/EFO_0803608 bacteroides seropositivity 'bacteroides seropositivity' SubClassOf 'bacteria seropositivity' http://www.ebi.ac.uk/efo/EFO_0803609 barnesiella seropositivity 'barnesiella seropositivity' SubClassOf 'bacteria seropositivity' http://www.ebi.ac.uk/efo/EFO_0803600 akkermansia seropositivity 'akkermansia seropositivity' SubClassOf 'bacteria seropositivity' http://www.ebi.ac.uk/efo/EFO_0803601 alistipes seropositivity 'alistipes seropositivity' SubClassOf 'bacteria seropositivity' http://www.ebi.ac.uk/efo/EFO_0803602 aspergillus seropositivity 'aspergillus seropositivity' SubClassOf 'bacteria seropositivity' http://www.ebi.ac.uk/efo/EFO_0803603 bacillaceae seropositivity 'bacillaceae seropositivity' SubClassOf 'bacteria seropositivity' http://purl.obolibrary.org/obo/MONDO_0002951 skin adenoid basal cell carcinoma 'skin adenoid basal cell carcinoma' SubClassOf 'skin basal cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0012353 erythrocytosis, familial, 3 'erythrocytosis, familial, 3' SubClassOf 'familial polycythemia' http://purl.obolibrary.org/obo/MONDO_0012062 dilated cardiomyopathy 1O 'dilated cardiomyopathy 1O' SubClassOf 'familial dilated cardiomyopathy' http://www.ebi.ac.uk/efo/EFO_0803596 phage seropositivity 'phage seropositivity' SubClassOf 'virus seropositivity' http://www.ebi.ac.uk/efo/EFO_0803597 animal allergen seropositivity 'animal allergen seropositivity' SubClassOf 'seropositivity measurement' http://www.ebi.ac.uk/efo/EFO_0803598 fungus seropositivity 'fungus seropositivity' SubClassOf 'seropositivity measurement' http://www.ebi.ac.uk/efo/EFO_0803599 plant allergen seropositivity 'plant allergen seropositivity' SubClassOf 'seropositivity measurement' http://www.ebi.ac.uk/efo/EFO_0803574 eicosenoyl sphingomyelin measurement 'eicosenoyl sphingomyelin measurement' SubClassOf 'sphingomyelin measurement' http://www.ebi.ac.uk/efo/EFO_0803575 stearoyl-arachidonoyl-glycerophosphoinositol (1) measurement 'stearoyl-arachidonoyl-glycerophosphoinositol (1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0803576 sphingomyelin (d17:1/16:0, d18:1/15:0, d16:1/17:0) measurement 'sphingomyelin (d17:1/16:0, d18:1/15:0, d16:1/17:0) measurement' SubClassOf 'sphingomyelin measurement' http://www.ebi.ac.uk/efo/EFO_0803577 sphingomyelin (d18:0/20:0, d16:0/22:0) measurement 'sphingomyelin (d18:0/20:0, d16:0/22:0) measurement' SubClassOf 'sphingomyelin measurement' http://www.ebi.ac.uk/efo/EFO_0803578 sphingomyelin (d18:1/25:0, d19:0/24:1, d20:1/23:0, d19:1/24:0) measurement 'sphingomyelin (d18:1/25:0, d19:0/24:1, d20:1/23:0, d19:1/24:0) measurement' SubClassOf 'sphingomyelin measurement' http://www.ebi.ac.uk/efo/EFO_0803579 azelaoyltaurine measurement 'azelaoyltaurine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0803580 methylsuccinoylcarnitine measurement 'methylsuccinoylcarnitine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0803581 N-acetylhomocitrulline measurement 'N-acetylhomocitrulline measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0803582 trans-2-hexenoylglycine measurement 'trans-2-hexenoylglycine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0803583 C38_5 phosphatidylcholine measurement 'C38_5 phosphatidylcholine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0803584 euricoyl sphingomyelin measurement 'euricoyl sphingomyelin measurement' SubClassOf 'sphingomyelin measurement' http://www.ebi.ac.uk/efo/EFO_0803585 C18:3 cholesterol ester measurement 'C18:3 cholesterol ester measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0803586 C36:4 phosphatidylcholine-A measurement 'C36:4 phosphatidylcholine-A measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0803587 C38:2 phosphatidylcholine measurement 'C38:2 phosphatidylcholine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0803588 C38:4 phosphatidylcholine plasmalogen measurement 'C38:4 phosphatidylcholine plasmalogen measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0803589 sphingomyelin (d18:0/18:0, d19:0/17:0) measurement 'sphingomyelin (d18:0/18:0, d19:0/17:0) measurement' SubClassOf 'sphingomyelin measurement' http://www.ebi.ac.uk/efo/EFO_0803590 ceramide (d18:2/24:1, d18:1/24:2) measurement 'ceramide (d18:2/24:1, d18:1/24:2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0803591 1-eicosapentaenoylglycerophosphocholine (20:5n3) measurement '1-eicosapentaenoylglycerophosphocholine (20:5n3) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0803592 leucylglutamine measurement 'leucylglutamine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0803593 bacteria seropositivity 'bacteria seropositivity' SubClassOf 'seropositivity measurement' http://www.ebi.ac.uk/efo/EFO_0803594 protozoan seropositivity 'protozoan seropositivity' SubClassOf 'seropositivity measurement' http://www.ebi.ac.uk/efo/EFO_0803595 virus seropositivity 'virus seropositivity' SubClassOf 'seropositivity measurement' http://www.ebi.ac.uk/efo/EFO_0803552 sphingomyelin (d18:1/22:2, d18:2/22:1, d16:1/24:2) measurement 'sphingomyelin (d18:1/22:2, d18:2/22:1, d16:1/24:2) measurement' SubClassOf 'sphingomyelin measurement' http://www.ebi.ac.uk/efo/EFO_0803553 palmitoleoyl-arachidonoyl-glycerol (16:1/20:4) [2] measurement 'palmitoleoyl-arachidonoyl-glycerol (16:1/20:4) [2] measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0803554 eicosenedioate (C20:1-DC) measurement 'eicosenedioate (C20:1-DC) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0803555 stearoyl-linoleoyl-glycerophosphoethanolamine (1) measurement 'stearoyl-linoleoyl-glycerophosphoethanolamine (1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0803556 palmitoyl-arachidonoyl-glycerophosphocholine (1) measurement 'palmitoyl-arachidonoyl-glycerophosphocholine (1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0803557 palmitoyl-arachidonoyl-glycerophosphocholine (2) measurement 'palmitoyl-arachidonoyl-glycerophosphocholine (2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0803558 stearoyl-arachidonoyl-glycerophosphocholine (1) measurement 'stearoyl-arachidonoyl-glycerophosphocholine (1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0803559 stearoyl-arachidonoyl-glycerophosphocholine (2) measurement 'stearoyl-arachidonoyl-glycerophosphocholine (2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0803560 stearoyl-linoleoyl-glycerophosphocholine (1) measurement 'stearoyl-linoleoyl-glycerophosphocholine (1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0803561 ceramide (d18:1/20:0, d16:1/22:0, d20:1/18:0) measurement 'ceramide (d18:1/20:0, d16:1/22:0, d20:1/18:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0803562 C38:4 phosphatidylserine plasmalogen measurement 'C38:4 phosphatidylserine plasmalogen measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0803563 C38:3 phosphatidylserine plasmalogen measurement 'C38:3 phosphatidylserine plasmalogen measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0803564 C40:4 phosphatidylserine plasmalogen measurement 'C40:4 phosphatidylserine plasmalogen measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0803565 sphingomyelin (d18:2/21:0, d16:2/23:0) measurement 'sphingomyelin (d18:2/21:0, d16:2/23:0) measurement' SubClassOf 'sphingomyelin measurement' http://www.ebi.ac.uk/efo/EFO_0803566 sphingomyelin (d17:2/16:0, d18:2/15:0) measurement 'sphingomyelin (d17:2/16:0, d18:2/15:0) measurement' SubClassOf 'sphingomyelin measurement' http://www.ebi.ac.uk/efo/EFO_0803567 sphingomyelin (d18:1/19:0, d19:1/18:0) measurement 'sphingomyelin (d18:1/19:0, d19:1/18:0) measurement' SubClassOf 'sphingomyelin measurement' http://www.ebi.ac.uk/efo/EFO_0803568 isoursodeoxycholate sulfate (2) measurement 'isoursodeoxycholate sulfate (2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0803569 sphingomyelin (d18:1/20:2, d18:2/20:1, d16:1/22:2) measurement 'sphingomyelin (d18:1/20:2, d18:2/20:1, d16:1/22:2) measurement' SubClassOf 'sphingomyelin measurement' http://www.ebi.ac.uk/efo/EFO_0803570 sphingomyelin (d18:2/23:1) measurement 'sphingomyelin (d18:2/23:1) measurement' SubClassOf 'sphingomyelin measurement' http://www.ebi.ac.uk/efo/EFO_0803571 asparagylleucine measurement 'asparagylleucine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0803572 asparagylvaline measurement 'asparagylvaline measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0803573 1-eicosatrienoylglycerophosphoethanolamine measurement '1-eicosatrienoylglycerophosphoethanolamine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0803549 N2-acetyl,N6,N6-dimethyllysine measurement 'N2-acetyl,N6,N6-dimethyllysine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0803550 2-linoleoylglycerophosphoethanolamine measurement '2-linoleoylglycerophosphoethanolamine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0803551 2-palmitoylglycerophosphoethanolamine measurement '2-palmitoylglycerophosphoethanolamine measurement' SubClassOf 'metabolite measurement' http://purl.obolibrary.org/obo/MONDO_0007247 basal ganglia calcification, idiopathic, childhood-onset 'basal ganglia calcification, idiopathic, childhood-onset' SubClassOf 'Aicardi-Goutieres syndrome' 'basal ganglia calcification, idiopathic, childhood-onset' SubClassOf 'idiopathic disease' 'basal ganglia calcification, idiopathic, childhood-onset' SubClassOf 'bilateral striopallidodentate calcinosis' http://purl.obolibrary.org/obo/MONDO_0007270 cardiomyopathy, familial restrictive, 1 'cardiomyopathy, familial restrictive, 1' SubClassOf 'familial restrictive cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0850349 astroblastoma, MN1-altered 'astroblastoma, MN1-altered' SubClassOf 'astroblastoma' http://purl.obolibrary.org/obo/MONDO_0007044 Acrodysostosis 1 with or without hormone resistance 'Acrodysostosis 1 with or without hormone resistance' SubClassOf 'acrodysostosis' http://purl.obolibrary.org/obo/MONDO_0957497 disabling pansclerotic morphea of childhood 'disabling pansclerotic morphea of childhood' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0957494 autoinflammatory disease, multisystem, with immune dysregulation, X-linked 'autoinflammatory disease, multisystem, with immune dysregulation, X-linked' SubClassOf 'hereditary disorder of connective tissue' 'autoinflammatory disease, multisystem, with immune dysregulation, X-linked' SubClassOf 'autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0957495 hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature 'hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature' SubClassOf 'hereditary hemolytic uremic syndrome' http://purl.obolibrary.org/obo/MONDO_0859085 neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked 'neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859176 neurodevelopmental disorder with motor and speech delay and behavioral abnormalities 'neurodevelopmental disorder with motor and speech delay and behavioral abnormalities' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859177 VISS syndrome 'VISS syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859174 Usmani-Riazuddin syndrome, autosomal dominant 'Usmani-Riazuddin syndrome, autosomal dominant' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859170 retinal dystrophy and microvillus inclusion disease 'retinal dystrophy and microvillus inclusion disease' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859169 White-Kernohan syndrome 'White-Kernohan syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859164 osteootohepatoenteric syndrome 'osteootohepatoenteric syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859167 hypokalemic tubulopathy and deafness 'hypokalemic tubulopathy and deafness' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859160 Mitochondrial complex IV deficiency, nuclear type 22 'Mitochondrial complex IV deficiency, nuclear type 22' SubClassOf 'mitochondrial complex IV deficiency, nuclear-type' http://purl.obolibrary.org/obo/MONDO_0859161 onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome 'onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859162 neurodevelopmental disorder with infantile epileptic spasms 'neurodevelopmental disorder with infantile epileptic spasms' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859163 Faundes-Banka syndrome 'Faundes-Banka syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859155 chromosome 1p36 deletion syndrome, proximal 'chromosome 1p36 deletion syndrome, proximal' SubClassOf 'chromosomal disorder' http://purl.obolibrary.org/obo/MONDO_0859156 dysostosis multiplex, Ain-Naz type 'dysostosis multiplex, Ain-Naz type' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0859146 growth restriction, hypoplastic kidneys, alopecia, and distinctive facies 'growth restriction, hypoplastic kidneys, alopecia, and distinctive facies' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859144 Buratti-Harel syndrome 'Buratti-Harel syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859136 Alzahrani-Kuwahara syndrome 'Alzahrani-Kuwahara syndrome' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859137 neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia 'neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0012900 cardiomyopathy, familial restrictive, 3 'cardiomyopathy, familial restrictive, 3' SubClassOf 'familial restrictive cardiomyopathy' http://purl.obolibrary.org/obo/HP_0030955 Addictive alcohol use 'Addictive alcohol use' SubClassOf 'Atypical behavior' http://purl.obolibrary.org/obo/MONDO_0957560 hearing loss, noise-induced, susceptibility to 'hearing loss, noise-induced, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'noise-induced hearing loss') 'hearing loss, noise-induced, susceptibility to' SubClassOf 'predisposes towards' some 'noise-induced hearing loss' 'hearing loss, noise-induced, susceptibility to' SubClassOf 'inherited disease susceptibility' 'hearing loss, noise-induced, susceptibility to' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0957541 neurodevelopmental disorder with hypotonia and speech delay, with or without seizures 'neurodevelopmental disorder with hypotonia and speech delay, with or without seizures' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0957545 cardiomyopathy, dilated, 2I 'cardiomyopathy, dilated, 2I' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0859197 intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies 'intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859199 developmental delay with or without intellectual impairment or behavioral abnormalities 'developmental delay with or without intellectual impairment or behavioral abnormalities' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859194 Boudin-Mortier syndrome 'Boudin-Mortier syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859196 Usmani-Riazuddin syndrome, autosomal recessive 'Usmani-Riazuddin syndrome, autosomal recessive' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859182 Short stature, Dauber-Argente type 'Short stature, Dauber-Argente type' SubClassOf 'musculoskeletal system disease' http://purl.obolibrary.org/obo/MONDO_0859181 DEGCAGS syndrome 'DEGCAGS syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012808 dilated cardiomyopathy 1AA 'dilated cardiomyopathy 1AA' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0012812 developmental and epileptic encephalopathy, 4 'developmental and epileptic encephalopathy, 4' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0957281 nemaline myopathy 5B, autosomal recessive, childhood-onset 'nemaline myopathy 5B, autosomal recessive, childhood-onset' SubClassOf 'nemaline myopathy' http://purl.obolibrary.org/obo/MONDO_0957271 autoinflammatory disease, systemic, with vasculitis 'autoinflammatory disease, systemic, with vasculitis' SubClassOf 'hereditary disorder of connective tissue' 'autoinflammatory disease, systemic, with vasculitis' SubClassOf 'autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0957267 neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity 'neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0957268 hypersulfaturia 'hypersulfaturia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0957294 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9 'pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9' SubClassOf 'pulmonary fibrosis and/or bone marrow failure, telomere-related' http://purl.obolibrary.org/obo/MONDO_0012850 hypophosphatemic nephrolithiasis/osteoporosis 1 'hypophosphatemic nephrolithiasis/osteoporosis 1' SubClassOf 'disease has feature' some 'hyperphosphatemia' 'hypophosphatemic nephrolithiasis/osteoporosis 1' SubClassOf 'nephrolithiasis/osteoporosis, hypophosphatemic' 'hypophosphatemic nephrolithiasis/osteoporosis 1' SubClassOf 'inherited kidney disorder' 'hypophosphatemic nephrolithiasis/osteoporosis 1' SubClassOf 'impaired renal function disease' http://purl.obolibrary.org/obo/MONDO_0012851 hypophosphatemic nephrolithiasis/osteoporosis 2 'hypophosphatemic nephrolithiasis/osteoporosis 2' SubClassOf 'impaired renal function disease' 'hypophosphatemic nephrolithiasis/osteoporosis 2' SubClassOf 'inherited kidney disorder' 'hypophosphatemic nephrolithiasis/osteoporosis 2' SubClassOf 'disease has feature' some 'hyperphosphatemia' 'hypophosphatemic nephrolithiasis/osteoporosis 2' SubClassOf 'nephrolithiasis/osteoporosis, hypophosphatemic' http://purl.obolibrary.org/obo/MONDO_0957224 congenital myopathy 21 with early respiratory failure 'congenital myopathy 21 with early respiratory failure' SubClassOf 'congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0957225 neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities 'neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0957228 intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities 'intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities' SubClassOf 'intellectual disability, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0957229 hatipoglu immunodeficiency syndrome 'hatipoglu immunodeficiency syndrome' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0957260 combined low LDL and fibrinogen 'combined low LDL and fibrinogen' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0957261 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 'pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7' SubClassOf 'pulmonary fibrosis and/or bone marrow failure, telomere-related' http://purl.obolibrary.org/obo/MONDO_0957263 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8 'pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8' SubClassOf 'pulmonary fibrosis and/or bone marrow failure, telomere-related' http://purl.obolibrary.org/obo/MONDO_0957265 congenital myopathy 22B, severe fetal 'congenital myopathy 22B, severe fetal' SubClassOf 'congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0957211 neurodegeneration and seizures due to copper transport defect 'neurodegeneration and seizures due to copper transport defect' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0957218 neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities 'neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0957204 autoinflammation with pulmonary and cutaneous vasculitis 'autoinflammation with pulmonary and cutaneous vasculitis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012704 dilated cardiomyopathy 1X 'dilated cardiomyopathy 1X' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0012729 erythrocytosis, familial, 4 'erythrocytosis, familial, 4' SubClassOf 'familial polycythemia' http://purl.obolibrary.org/obo/MONDO_0012745 dilated cardiomyopathy 1Z 'dilated cardiomyopathy 1Z' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0012746 dilated cardiomyopathy 2A 'dilated cardiomyopathy 2A' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0957385 dystonia 37, early-onset, with striatal lesions 'dystonia 37, early-onset, with striatal lesions' SubClassOf 'inherited dystonia' http://purl.obolibrary.org/obo/MONDO_0957386 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities 'neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0012775 thrombocytopenia 4 'thrombocytopenia 4' SubClassOf 'inherited thrombocytopenia' http://purl.obolibrary.org/obo/MONDO_0957318 nephrolithiasis, calcium oxalate 'nephrolithiasis, calcium oxalate' SubClassOf 'inherited kidney disorder' 'nephrolithiasis, calcium oxalate' SubClassOf 'nephrolithiasis' http://purl.obolibrary.org/obo/MONDO_0957307 woolly hair-skin fragility syndrome 'woolly hair-skin fragility syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0957308 spastic paraplegia 90A, autosomal dominant 'spastic paraplegia 90A, autosomal dominant' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0957309 spastic paraplegia 90B, autosomal recessive 'spastic paraplegia 90B, autosomal recessive' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0007814 immune deficiency, familial variable 'immune deficiency, familial variable' SubClassOf 'common variable immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0007828 indifference to pain, congenital, autosomal dominant 'indifference to pain, congenital, autosomal dominant' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032814 microangiopathy and leukoencephalopathy, pontine, autosomal dominant 'microangiopathy and leukoencephalopathy, pontine, autosomal dominant' SubClassOf 'cerebrovascular disorder' 'microangiopathy and leukoencephalopathy, pontine, autosomal dominant' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032859 spermatogenic failure 40 'spermatogenic failure 40' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0032845 spermatogenic failure 39 'spermatogenic failure 39' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0032863 spermatogenic failure 41 'spermatogenic failure 41' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0007306 Klippel-Feil syndrome 1, autosomal dominant 'Klippel-Feil syndrome 1, autosomal dominant' SubClassOf 'Klippel-Feil syndrome' http://purl.obolibrary.org/obo/MONDO_0013030 dilated cardiomyopathy 1BB 'dilated cardiomyopathy 1BB' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0013070 spermatogenic failure 7 'spermatogenic failure 7' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/HP_0011626 Scimitar anomaly 'Scimitar anomaly' SubClassOf 'Anomalous pulmonary venous return' http://purl.obolibrary.org/obo/MONDO_0013901 spermatogenic failure 10 'spermatogenic failure 10' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0859575 Atelis syndrome 1 'Atelis syndrome 1' SubClassOf 'mosaic variegated aneuploidy syndrome' 'Atelis syndrome 1' SubClassOf 'Atelis syndrome' http://purl.obolibrary.org/obo/MONDO_0859576 Atelis syndrome 2 'Atelis syndrome 2' SubClassOf 'mosaic variegated aneuploidy syndrome' 'Atelis syndrome 2' SubClassOf 'Atelis syndrome' http://purl.obolibrary.org/obo/MONDO_0859571 diaphragmatic hernia 4, with cardiovascular defects 'diaphragmatic hernia 4, with cardiovascular defects' SubClassOf 'congenital diaphragmatic hernia' http://purl.obolibrary.org/obo/MONDO_0859570 braddock-carey syndrome 2 'braddock-carey syndrome 2' SubClassOf 'Braddock-Carey syndrome' http://purl.obolibrary.org/obo/MONDO_0859520 Mitochondrial complex IV deficiency, nuclear type 23 'Mitochondrial complex IV deficiency, nuclear type 23' SubClassOf 'mitochondrial complex IV deficiency, nuclear-type' http://purl.obolibrary.org/obo/MONDO_0859519 neurodevelopmental disorder with absent speech and movement and behavioral abnormalities 'neurodevelopmental disorder with absent speech and movement and behavioral abnormalities' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859514 congenital myopathy 18 'congenital myopathy 18' SubClassOf 'congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0013822 acrodysostosis 2 with or without hormone resistance 'acrodysostosis 2 with or without hormone resistance' SubClassOf 'acrodysostosis' http://purl.obolibrary.org/obo/MONDO_0013838 coenzyme Q10 deficiency, primary, 3 'coenzyme Q10 deficiency, primary, 3' SubClassOf 'coenzyme Q10 deficiency' http://purl.obolibrary.org/obo/MONDO_0013848 dilated cardiomyopathy 2B 'dilated cardiomyopathy 2B' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0859296 neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss 'neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859298 neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly 'neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859293 neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment 'neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859295 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties 'neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859281 intellectual developmental disorder with autism and dysmorphic facies 'intellectual developmental disorder with autism and dysmorphic facies' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859274 neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies 'neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859277 intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects 'intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859272 neurodevelopmental disorder with speech delay and variable ocular anomalies 'neurodevelopmental disorder with speech delay and variable ocular anomalies' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859273 liver disease, severe congenital 'liver disease, severe congenital' SubClassOf 'liver disease' http://purl.obolibrary.org/obo/MONDO_0859258 neurodevelopmental disorder with dystonia and seizures 'neurodevelopmental disorder with dystonia and seizures' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859253 osteoporosis, childhood- or juvenile-onset, with developmental delay 'osteoporosis, childhood- or juvenile-onset, with developmental delay' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859254 hepatorenocardiac degenerative fibrosis 'hepatorenocardiac degenerative fibrosis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859249 parenti-mignot neurodevelopmental syndrome 'parenti-mignot neurodevelopmental syndrome' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859246 leukodystrophy, childhood-onset, remitting 'leukodystrophy, childhood-onset, remitting' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0859247 neurocardiofaciodigital syndrome 'neurocardiofaciodigital syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859248 corneal dystrophy, punctiform and polychromatic pre-descemet 'corneal dystrophy, punctiform and polychromatic pre-descemet' SubClassOf 'corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0859241 neurodegeneration, childhood-onset, with progressive microcephaly 'neurodegeneration, childhood-onset, with progressive microcephaly' SubClassOf 'neurodegenerative disease' http://purl.obolibrary.org/obo/MONDO_0859244 phosphoribosylaminoimidazole carboxylase deficiency 'phosphoribosylaminoimidazole carboxylase deficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859236 neurodevelopmental disorder with neuromuscular and skeletal abnormalities 'neurodevelopmental disorder with neuromuscular and skeletal abnormalities' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859231 macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin 'macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859229 cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism 'cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859223 congenital disorder of glycosylation, type Iw, autosomal dominant 'congenital disorder of glycosylation, type Iw, autosomal dominant' SubClassOf 'congenital disorder of glycosylation' http://purl.obolibrary.org/obo/MONDO_0859220 Ferguson-Bonni neurodevelopmental syndrome 'Ferguson-Bonni neurodevelopmental syndrome' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859217 Brunet-Wagner neurodevelopmental syndrome 'Brunet-Wagner neurodevelopmental syndrome' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859214 Marbach-Schaaf neurodevelopmental syndrome 'Marbach-Schaaf neurodevelopmental syndrome' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859209 Zaki syndrome 'Zaki syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859205 delayed puberty, self-limited 'delayed puberty, self-limited' SubClassOf 'genetic disorder' 'delayed puberty, self-limited' SubClassOf 'female reproductive system disease' http://purl.obolibrary.org/obo/MONDO_0859208 Hengel-Maroofian-Schols syndrome 'Hengel-Maroofian-Schols syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859203 rhizomelic dysplasia, Ain-Naz type 'rhizomelic dysplasia, Ain-Naz type' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0859200 cerebellar ataxia, brain abnormalities, and cardiac conduction defects 'cerebellar ataxia, brain abnormalities, and cardiac conduction defects' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859393 Atelis syndrome 'Atelis syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859382 cataract 50 with or without glaucoma 'cataract 50 with or without glaucoma' SubClassOf 'cataract' http://purl.obolibrary.org/obo/MONDO_0859375 developmental delay with hypotonia, myopathy, and brain abnormalities 'developmental delay with hypotonia, myopathy, and brain abnormalities' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859370 respiratory infections, recurrent, and failure to thrive with or without diarrhea 'respiratory infections, recurrent, and failure to thrive with or without diarrhea' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859371 rhabdomyolysis, susceptibility to, 1 'rhabdomyolysis, susceptibility to, 1' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0859372 cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies 'cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0859369 joint contractures, osteochondromas, and B-cell lymphoma 'joint contractures, osteochondromas, and B-cell lymphoma' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859361 neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia 'neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859355 inflammatory poikiloderma with hair abnormalities and acral keratoses 'inflammatory poikiloderma with hair abnormalities and acral keratoses' SubClassOf 'hereditary poikiloderma' http://purl.obolibrary.org/obo/MONDO_0859357 congenital disorder of glycosylation, type IIz 'congenital disorder of glycosylation, type IIz' SubClassOf 'congenital disorder of glycosylation type II' http://purl.obolibrary.org/obo/MONDO_0859358 cardiomyopathy, dilated, 2H 'cardiomyopathy, dilated, 2H' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0859353 ciliary dyskinesia, primary, 49, without situs inversus 'ciliary dyskinesia, primary, 49, without situs inversus' SubClassOf 'primary ciliary dyskinesia' http://purl.obolibrary.org/obo/MONDO_0859350 neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies 'neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859346 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition 'mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition' SubClassOf 'mosaic variegated aneuploidy syndrome' http://purl.obolibrary.org/obo/MONDO_0859328 hypomagnesemia 7, renal, with or without dilated cardiomyopathy 'hypomagnesemia 7, renal, with or without dilated cardiomyopathy' SubClassOf 'familial primary hypomagnesemia' http://purl.obolibrary.org/obo/MONDO_0859322 myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 'myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859324 developmental delay, language impairment, and ocular abnormalities 'developmental delay, language impairment, and ocular abnormalities' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859316 iron overload, susceptibility to 'iron overload, susceptibility to' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0859311 Charcot-Marie-Tooth disease, demyelinating, type 1J 'Charcot-Marie-Tooth disease, demyelinating, type 1J' SubClassOf 'Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0859312 neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities 'neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859304 neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction 'neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction' SubClassOf 'neurodegenerative disease' http://purl.obolibrary.org/obo/MONDO_0859305 neurodevelopmental disorder with eye movement abnormalities and ataxia 'neurodevelopmental disorder with eye movement abnormalities and ataxia' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859306 developmental delay with variable intellectual disability and dysmorphic facies 'developmental delay with variable intellectual disability and dysmorphic facies' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859302 hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 'hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013479 dilated cardiomyopathy 1HH 'dilated cardiomyopathy 1HH' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/HP_0006548 Pulmonary arteriovenous malformation 'Pulmonary arteriovenous malformation' SubClassOf 'Abnormal cardiovascular system morphology' 'Pulmonary arteriovenous malformation' SubClassOf 'Abnormal lung morphology' 'Pulmonary arteriovenous malformation' SubClassOf 'Abnormality of the vasculature' http://purl.obolibrary.org/obo/HP_0031508 Abnormal circulating thyroid hormone concentration 'Abnormal circulating thyroid hormone concentration' SubClassOf 'Abnormal circulating hormone concentration' 'Abnormal circulating thyroid hormone concentration' SubClassOf 'Abnormality of thyroid physiology' http://purl.obolibrary.org/obo/MONDO_0013504 spermatogenic failure 8 'spermatogenic failure 8' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0013375 Klippel-Feil syndrome 3, autosomal dominant 'Klippel-Feil syndrome 3, autosomal dominant' SubClassOf 'Klippel-Feil syndrome' http://purl.obolibrary.org/obo/MONDO_0013373 dilated cardiomyopathy 1V 'dilated cardiomyopathy 1V' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0013371 dilated cardiomyopathy 1U 'dilated cardiomyopathy 1U' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0013339 dilated cardiomyopathy 1GG 'dilated cardiomyopathy 1GG' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0013147 dilated cardiomyopathy 1CC 'dilated cardiomyopathy 1CC' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0013168 dilated cardiomyopathy 1DD 'dilated cardiomyopathy 1DD' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0013198 dilated cardiomyopathy 1EE 'dilated cardiomyopathy 1EE' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0013211 dilated cardiomyopathy 1FF 'dilated cardiomyopathy 1FF' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0008555 thrombocytopenia 2 'thrombocytopenia 2' SubClassOf 'inherited thrombocytopenia' http://www.ebi.ac.uk/efo/EFO_0022499 M426 'M426' SubClassOf 'Homo sapiens cell line' 'M426' SubClassOf 'derives_from' some ('fibroblast' and ('part of' some (('lung' or 'embryo stage') and ('part of' some 'Homo sapiens')))) 'M426' SubClassOf 'fibroblast derived cell line' http://www.ebi.ac.uk/efo/EFO_0022498 HT-H 'HT-H' SubClassOf 'cancer cell line' 'HT-H' SubClassOf 'bearer_of' some 'mixed germ cell tumor' 'HT-H' SubClassOf 'derives_from' some ('germ cell' and ('part of' some ('anatomical entity' and ('part of' some 'Homo sapiens')))) 'HT-H' SubClassOf 'Homo sapiens cell line' http://www.ebi.ac.uk/efo/EFO_0022495 autosomal recessive axonal hereditary motor and sensory neuropathy 'autosomal recessive axonal hereditary motor and sensory neuropathy' SubClassOf 'axonal hereditary motor and sensory neuropathy' http://www.ebi.ac.uk/efo/EFO_0022494 antenatal Bartter syndrome 'antenatal Bartter syndrome' SubClassOf 'Bartter syndrome' http://www.ebi.ac.uk/efo/EFO_0022497 SNG-M 'SNG-M' SubClassOf 'cancer cell line' 'SNG-M' SubClassOf 'Homo sapiens cell line' 'SNG-M' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('endometrium' and ('part of' some 'Homo sapiens')))) 'SNG-M' SubClassOf 'bearer_of' some 'endometrial carcinoma' http://www.ebi.ac.uk/efo/EFO_0022496 Stickler syndrom, recessive 'Stickler syndrom, recessive' SubClassOf 'Stickler syndrome' http://www.ebi.ac.uk/efo/EFO_0022493 Stickler syndrome, dominant 'Stickler syndrome, dominant' SubClassOf 'Stickler syndrome' http://purl.obolibrary.org/obo/HP_0002360 Sleep abnormality 'Sleep abnormality' SubClassOf 'Abnormality of mental function' http://purl.obolibrary.org/obo/HP_0002683 Abnormal calvaria morphology 'Abnormal calvaria morphology' SubClassOf 'Abnormal skull morphology' http://purl.obolibrary.org/obo/MONDO_0008958 Klippel-Feil syndrome 2, autosomal recessive 'Klippel-Feil syndrome 2, autosomal recessive' SubClassOf 'Klippel-Feil syndrome' http://purl.obolibrary.org/obo/MONDO_0014328 developmental and epileptic encephalopathy, 19 'developmental and epileptic encephalopathy, 19' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0014355 cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 'cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis' SubClassOf 'arrhythmogenic cardiomyopathy with wooly hair and keratoderma' http://purl.obolibrary.org/obo/MONDO_0014370 pontocerebellar hypoplasia type 2E 'pontocerebellar hypoplasia type 2E' SubClassOf 'pontocerebellar hypoplasia' http://purl.obolibrary.org/obo/MONDO_0014387 leukoencephalopathy, progressive, with ovarian failure 'leukoencephalopathy, progressive, with ovarian failure' SubClassOf 'leukoencephalopathy with vanishing white matter' http://purl.obolibrary.org/obo/MONDO_0014232 craniosynostosis 5, susceptibility to 'craniosynostosis 5, susceptibility to' SubClassOf 'predisposes towards' some 'craniosynostosis' 'craniosynostosis 5, susceptibility to' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0014246 episodic pain syndrome, familial, 2 'episodic pain syndrome, familial, 2' SubClassOf 'familial episodic pain syndrome' http://purl.obolibrary.org/obo/MONDO_0014269 combined oxidative phosphorylation deficiency 19 'combined oxidative phosphorylation deficiency 19' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0014280 immunodeficiency 19 'immunodeficiency 19' SubClassOf 'familial severe combined immunodeficiency' 'immunodeficiency 19' SubClassOf 'T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta' http://purl.obolibrary.org/obo/MONDO_0014100 dilated cardiomyopathy 1KK 'dilated cardiomyopathy 1KK' SubClassOf 'familial restrictive cardiomyopathy' 'dilated cardiomyopathy 1KK' SubClassOf 'familial dilated cardiomyopathy' 'dilated cardiomyopathy 1KK' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0014136 pulmonary hypertension, primary, 4 'pulmonary hypertension, primary, 4' SubClassOf 'heritable pulmonary arterial hypertension' http://purl.obolibrary.org/obo/MONDO_0014135 pulmonary hypertension, primary, 3 'pulmonary hypertension, primary, 3' SubClassOf 'heritable pulmonary arterial hypertension' http://purl.obolibrary.org/obo/MONDO_0014134 pulmonary hypertension, primary, 2 'pulmonary hypertension, primary, 2' SubClassOf 'heritable pulmonary arterial hypertension' http://purl.obolibrary.org/obo/MONDO_0014017 intellectual developmental disorder with autism and macrocephaly 'intellectual developmental disorder with autism and macrocephaly' SubClassOf 'autism, susceptiblity to' http://purl.obolibrary.org/obo/MONDO_0014073 dilated cardiomyopathy 1II 'dilated cardiomyopathy 1II' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0014095 dilated cardiomyopathy 1JJ 'dilated cardiomyopathy 1JJ' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0004235 diverticulitis 'diverticulitis' SubClassOf 'inflammatory disease' 'diverticulitis' SubClassOf 'disease has feature' some 'dysentery' 'diverticulitis' SubClassOf 'disease has feature' some 'constipation disorder' 'diverticulitis' SubClassOf 'intestinal disease' http://purl.obolibrary.org/obo/MONDO_0009014 cornea plana 2 'cornea plana 2' SubClassOf 'cornea plana' http://purl.obolibrary.org/obo/MONDO_0009090 hearing loss, sensorineural, autosomal-mitochondrial type 'hearing loss, sensorineural, autosomal-mitochondrial type' SubClassOf 'mitochondrial non-syndromic sensorineural hearing loss' http://purl.obolibrary.org/obo/HP_0032397 Citrullinuria 'Citrullinuria' SubClassOf 'Abnormality of urine homeostasis' http://www.ebi.ac.uk/efo/EFO_0022518 CH7C17 'CH7C17' SubClassOf 'derives_from' some ('cell type' and ('part of' some (('organism part' or 'embryo stage') and ('part of' some 'Homo sapiens')))) 'CH7C17' SubClassOf 'bearer_of' some 'acute lymphoblastic leukemia' 'CH7C17' SubClassOf 'lymphoma or leukaemia cell line' 'CH7C17' SubClassOf 'Homo sapiens cell line' http://www.ebi.ac.uk/efo/EFO_0022517 NK-92 'NK-92' SubClassOf 'derives_from' some ('cultured cell' and ('part of' some (('organism part' or 'embryo stage') and ('part of' some 'Homo sapiens')))) 'NK-92' SubClassOf 'T-cell non-Hodgkin lymphoma' 'NK-92' SubClassOf 'lymphoma or leukaemia cell line' http://www.ebi.ac.uk/efo/EFO_0022519 GM847 'GM847' SubClassOf 'Homo sapiens cell line' 'GM847' SubClassOf 'fibroblast derived cell line' 'GM847' SubClassOf 'derives_from' some ('fibroblast' and ('part of' some (('developmental stage' or 'organism part') and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0022514 A-375P 'A-375P' SubClassOf 'melanoma cell line' 'A-375P' SubClassOf 'bearer_of' some 'melanoma' 'A-375P' SubClassOf 'Homo sapiens cell line' 'A-375P' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('skin of body' and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0022513 UTMC-2 'UTMC-2' SubClassOf 'bearer_of' some 'multiple myeloma' 'UTMC-2' SubClassOf 'lymphoma or leukaemia cell line' 'UTMC-2' SubClassOf 'cancer cell line' 'UTMC-2' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('pleural effusion' and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0022516 2C4 gamma2A '2C4 gamma2A' SubClassOf 'fibroblast derived cell line' '2C4 gamma2A' SubClassOf 'cancer cell line' '2C4 gamma2A' SubClassOf 'Homo sapiens cell line' '2C4 gamma2A' SubClassOf 'derives_from' some ('fibroblast' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) '2C4 gamma2A' SubClassOf 'bearer_of' some 'fibrosarcoma' http://www.ebi.ac.uk/efo/EFO_0022515 HEK-293S 'HEK-293S' SubClassOf 'derives_from' some ('epithelial cell' and ('part of' some ('kidney' and ('part of' some 'Homo sapiens')))) 'HEK-293S' SubClassOf 'HEK293' 'HEK-293S' SubClassOf 'Homo sapiens cell line' http://www.ebi.ac.uk/efo/EFO_0022510 FOCUS 'FOCUS' SubClassOf 'derives_from' some ('epithelial cell' and ('part of' some ('liver' and ('part of' some 'Homo sapiens')))) 'FOCUS' SubClassOf 'Homo sapiens cell line' 'FOCUS' SubClassOf 'hepatoma cell line' 'FOCUS' SubClassOf 'bearer_of' some 'hepatocellular carcinoma' http://www.ebi.ac.uk/efo/EFO_0022512 KN73 'KN73' SubClassOf 'hepatoma cell line' 'KN73' SubClassOf 'bearer_of' some 'hepatocellular carcinoma' 'KN73' SubClassOf 'derives_from' some ('epithelial cell' and ('part of' some ('liver' and ('part of' some 'Homo sapiens')))) 'KN73' SubClassOf 'Homo sapiens cell line' http://www.ebi.ac.uk/efo/EFO_0022511 CCD-1070Sk 'CCD-1070Sk' SubClassOf 'Homo sapiens cell line' 'CCD-1070Sk' SubClassOf 'fibroblast derived cell line' 'CCD-1070Sk' SubClassOf 'epithelial cell derived cell line' 'CCD-1070Sk' SubClassOf 'derives_from' some ('fibroblast' and ('part of' some ('prepuce of penis' and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0022507 JSL1 'JSL1' SubClassOf 'part of' some 'blood' 'JSL1' SubClassOf 'bearer_of' some 'T-cell acute lymphoblastic leukemia' 'JSL1' SubClassOf 'lymphoblastoid cell line' 'JSL1' SubClassOf 'lymphoma or leukaemia cell line' 'JSL1' SubClassOf 'part of' some 'Homo sapiens' 'JSL1' SubClassOf 'blood component' http://www.ebi.ac.uk/efo/EFO_0022506 immortalized human aortic endothelial cell line 'immortalized human aortic endothelial cell line' SubClassOf 'endothelial cell derived cell line' 'immortalized human aortic endothelial cell line' SubClassOf 'derives_from' some ('endothelial cell' and ('part of' some ('aorta' and ('part of' some 'Homo sapiens')))) 'immortalized human aortic endothelial cell line' SubClassOf 'Homo sapiens cell line' http://www.ebi.ac.uk/efo/EFO_0022509 KYSE-410 'KYSE-410' SubClassOf 'bearer_of' some 'esophageal squamous cell carcinoma' 'KYSE-410' SubClassOf 'derives_from' some ('cultured cell' and ('part of' some ('esophagus' and ('part of' some 'Homo sapiens')))) 'KYSE-410' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0022508 CCRF-HSB-2 'CCRF-HSB-2' SubClassOf 'blood component' 'CCRF-HSB-2' SubClassOf 'part of' some 'blood' 'CCRF-HSB-2' SubClassOf 'lymphoblastoid cell line' 'CCRF-HSB-2' SubClassOf 'lymphoma or leukaemia cell line' 'CCRF-HSB-2' SubClassOf 'bearer_of' some 'T-cell acute lymphoblastic leukemia' 'CCRF-HSB-2' SubClassOf 'part of' some 'Homo sapiens' http://www.ebi.ac.uk/efo/EFO_0022503 92-1 '92-1' SubClassOf 'Homo sapiens cell line' '92-1' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) '92-1' SubClassOf 'melanoma cell line' '92-1' SubClassOf 'bearer_of' some 'Uveal melanoma' http://www.ebi.ac.uk/efo/EFO_0022502 NB-1 'NB-1' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('lymph node' and ('part of' some 'Homo sapiens')))) 'NB-1' SubClassOf 'neuroblastoma cell line' 'NB-1' SubClassOf 'bearer_of' some 'neuroblastoma' 'NB-1' SubClassOf 'Homo sapiens cell line' http://www.ebi.ac.uk/efo/EFO_0022505 SYO-1 'SYO-1' SubClassOf 'bearer_of' some 'synovial sarcoma' 'SYO-1' SubClassOf 'cancer cell line' 'SYO-1' SubClassOf 'Homo sapiens cell line' 'SYO-1' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('inguinal part of abdomen' and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0022504 SW707 'SW707' SubClassOf 'derives_from' some ('colorectal cancer cell' and ('part of' some ('colorectum' and ('part of' some 'Homo sapiens')))) 'SW707' SubClassOf 'bearer_of' some 'colorectal adenocarcinoma' 'SW707' SubClassOf 'Homo sapiens cell line' 'SW707' SubClassOf 'colorectal cancer cell line' http://www.ebi.ac.uk/efo/EFO_0022501 MINO 'MINO' SubClassOf 'derives_from' some ('cultured cell' and ('part of' some (('blood' or 'embryo stage') and ('part of' some 'Homo sapiens')))) 'MINO' SubClassOf 'lymphoma or leukaemia cell line' 'MINO' SubClassOf 'bearer_of' some 'Mantle cell lymphoma' http://www.ebi.ac.uk/efo/EFO_0022500 P493-6 'P493-6' SubClassOf 'B cell derived cell line' 'P493-6' SubClassOf 'Homo sapiens cell line' 'P493-6' SubClassOf 'derives_from' some ('B cell' and ('part of' some (('organism part' or 'embryo stage') and ('part of' some 'Homo sapiens')))) 'P493-6' SubClassOf 'Burkitt lymphoma cell' 'P493-6' SubClassOf 'bearer_of' some 'Burkitts lymphoma' http://www.ebi.ac.uk/efo/EFO_0022539 hTERT-RPE1 'hTERT-RPE1' SubClassOf 'derives_from' some ('retinal cell' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) 'hTERT-RPE1' SubClassOf 'Homo sapiens cell line' 'hTERT-RPE1' SubClassOf 'epithelial cell derived cell line' http://www.ebi.ac.uk/efo/EFO_0022536 SKLU-1 'SKLU-1' SubClassOf 'lung cancer cell line' 'SKLU-1' SubClassOf 'Homo sapiens cell line' 'SKLU-1' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('lung' and ('part of' some 'Homo sapiens')))) 'SKLU-1' SubClassOf 'bearer_of' some 'non-small cell lung carcinoma' http://www.ebi.ac.uk/efo/EFO_0022535 HAP1 'HAP1' SubClassOf 'Homo sapiens cell line' 'HAP1' SubClassOf 'chronic myelogenous leukemia cell line' 'HAP1' SubClassOf 'bearer_of' some 'chronic myelogenous leukemia' 'HAP1' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('bone marrow' and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0022538 Yamato-SS 'Yamato-SS' SubClassOf 'cancer cell line' 'Yamato-SS' SubClassOf 'Homo sapiens cell line' 'Yamato-SS' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('lung' and ('part of' some 'Homo sapiens')))) 'Yamato-SS' SubClassOf 'bearer_of' some 'synovial sarcoma' http://www.ebi.ac.uk/efo/EFO_0022537 SMS-KCN 'SMS-KCN' SubClassOf 'neuroblastoma cell line' 'SMS-KCN' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('nervous system' and ('part of' some 'Homo sapiens')))) 'SMS-KCN' SubClassOf 'Homo sapiens cell line' 'SMS-KCN' SubClassOf 'bearer_of' some 'neuroblastoma' http://www.ebi.ac.uk/efo/EFO_0022532 NB4-MR2 'NB4-MR2' SubClassOf 'derives_from' some ('cultured cell' and ('part of' some ('bone marrow' and ('part of' some 'Homo sapiens')))) 'NB4-MR2' SubClassOf 'bearer_of' some 'acute promyelocytic leukemia' 'NB4-MR2' SubClassOf 'lymphoma or leukaemia cell line' 'NB4-MR2' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0022531 HTC75 'HTC75' SubClassOf 'Homo sapiens cell line' 'HTC75' SubClassOf 'bearer_of' some 'fibrosarcoma' 'HTC75' SubClassOf 'fibroblast derived cell line' 'HTC75' SubClassOf 'cancer cell line' 'HTC75' SubClassOf 'derives_from' some ('fibroblast' and ('part of' some ('hip' and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0022534 VACO 481 'VACO 481' SubClassOf 'colonic cancer cell line' 'VACO 481' SubClassOf 'colon carcinoma' http://www.ebi.ac.uk/efo/EFO_0022533 U3A 'U3A' SubClassOf 'Homo sapiens cell line' 'U3A' SubClassOf 'bearer_of' some 'fibrosarcoma' 'U3A' SubClassOf 'cancer cell line' 'U3A' SubClassOf 'fibroblast derived cell line' 'U3A' SubClassOf 'derives_from' some ('fibroblast' and ('part of' some ('hip' and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0022530 HEK-293HR1 'HEK-293HR1' SubClassOf 'HEK293' 'HEK-293HR1' SubClassOf 'derives_from' some ('epithelial cell' and ('part of' some ('late embryo' or ('kidney' and ('part of' some 'Homo sapiens'))))) http://www.ebi.ac.uk/efo/EFO_0022529 HK-2 'HK-2' SubClassOf 'epithelial cell derived cell line' 'HK-2' SubClassOf 'derives_from' some ('cultured cell' and ('part of' some ('kidney' and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0022528 HEK-293A 'HEK-293A' SubClassOf 'cultured cell' 'HEK-293A' SubClassOf 'derives_from' some ('cultured cell' and ('part of' some ('late embryo' or ('kidney' and ('part of' some 'Homo sapiens'))))) http://www.ebi.ac.uk/efo/EFO_0022525 Hana3A 'Hana3A' SubClassOf 'kidney derived cell line' 'Hana3A' SubClassOf 'Homo sapiens cell line' 'Hana3A' SubClassOf 'derives_from' some ('cell type' and ('part of' some (('late embryo' or 'kidney') and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0022524 EUFA1341 'EUFA1341' SubClassOf 'fibroblast derived cell line' 'EUFA1341' SubClassOf 'Homo sapiens cell line' 'EUFA1341' SubClassOf 'derives_from' some ('fibroblast' and ('part of' some (('developmental stage' or 'organism part') and ('part of' some 'Homo sapiens')))) 'EUFA1341' SubClassOf 'bearer_of' some 'Fanconi anemia' http://www.ebi.ac.uk/efo/EFO_0022527 HCS-2/8 'HCS-2/8' SubClassOf 'bearer_of' some 'chondrosarcoma' 'HCS-2/8' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('bone element' and ('part of' some 'Homo sapiens')))) 'HCS-2/8' SubClassOf 'cancer cell line' 'HCS-2/8' SubClassOf 'Homo sapiens cell line' http://www.ebi.ac.uk/efo/EFO_0022526 HCC2429 'HCC2429' SubClassOf 'lung cancer cell line' 'HCC2429' SubClassOf 'Homo sapiens cell line' 'HCC2429' SubClassOf 'bearer_of' some 'non-small cell lung carcinoma' 'HCC2429' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('lung' and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0022521 D54 'D54' SubClassOf 'Homo sapiens cell line' 'D54' SubClassOf 'bearer_of' some 'melanoma' 'D54' SubClassOf 'melanoma cell line' 'D54' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('skin of body' and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0022520 CHRF-288 'CHRF-288' SubClassOf 'bearer_of' some 'acute lymphoblastic leukemia' 'CHRF-288' SubClassOf 'lymphoma or leukaemia cell line' 'CHRF-288' SubClassOf 'derives_from' some ('megakaryocyte' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) 'CHRF-288' SubClassOf 'Homo sapiens cell line' http://www.ebi.ac.uk/efo/EFO_0022523 KBM-3 'KBM-3' SubClassOf 'Homo sapiens cell line' 'KBM-3' SubClassOf 'cancer cell line' 'KBM-3' SubClassOf 'lymphoma or leukaemia cell line' 'KBM-3' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('blood' and ('part of' some 'Homo sapiens')))) 'KBM-3' SubClassOf 'bearer_of' some 'acute myeloid leukemia' http://www.ebi.ac.uk/efo/EFO_0022522 DKO-1 'DKO-1' SubClassOf 'colonic cancer cell line' 'DKO-1' SubClassOf 'bearer_of' some 'colon adenocarcinoma' 'DKO-1' SubClassOf 'Homo sapiens cell line' 'DKO-1' SubClassOf 'colorectal cancer cell line' 'DKO-1' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('colorectum' and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0022558 WM-35 'WM-35' SubClassOf 'melanoma cell line' 'WM-35' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('skin of body' and ('part of' some 'Homo sapiens')))) 'WM-35' SubClassOf 'Homo sapiens cell line' http://www.ebi.ac.uk/efo/EFO_0022557 WHCO6 'WHCO6' SubClassOf 'bearer_of' some 'esophageal squamous cell carcinoma' 'WHCO6' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('esophagus' and ('part of' some 'Homo sapiens')))) 'WHCO6' SubClassOf 'Homo sapiens cell line' 'WHCO6' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0022559 WM278 'WM278' SubClassOf 'Homo sapiens cell line' 'WM278' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('skin of body' and ('part of' some 'Homo sapiens')))) 'WM278' SubClassOf 'melanoma cell line' http://www.ebi.ac.uk/efo/EFO_0022554 SG231 'SG231' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('bile duct' and ('part of' some 'Homo sapiens')))) 'SG231' SubClassOf 'Homo sapiens cell line' 'SG231' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0022553 Plat-E 'Plat-E' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('kidney' or ('late embryo' and ('part of' some 'Homo sapiens'))))) 'Plat-E' SubClassOf 'HEK293' http://www.ebi.ac.uk/efo/EFO_0022556 TIG-3 'TIG-3' SubClassOf 'derives_from' some ('fibroblast' and ('part of' some (('lung' or 'embryo stage') and ('part of' some 'Homo sapiens')))) 'TIG-3' SubClassOf 'fibroblast derived cell line' 'TIG-3' SubClassOf 'Homo sapiens cell line' http://www.ebi.ac.uk/efo/EFO_0022555 GM00232 'GM00232' SubClassOf 'bearer_of' some 'spinal muscular atrophy' 'GM00232' SubClassOf 'Homo sapiens cell line' 'GM00232' SubClassOf 'derives_from' some ('fibroblast' and ('part of' some ('skin of body' and ('part of' some 'Homo sapiens')))) 'GM00232' SubClassOf 'fibroblast derived cell line' http://www.ebi.ac.uk/efo/EFO_0022550 NKL 'NKL' SubClassOf 'acute lymphoblastic leukemia' 'NKL' SubClassOf 'lymphoma or leukaemia cell line' 'NKL' SubClassOf 'derives_from' some ('natural killer cell' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) 'NKL' SubClassOf 'Homo sapiens cell line' http://www.ebi.ac.uk/efo/EFO_0022552 PAXC002 'PAXC002' SubClassOf 'Homo sapiens cell line' 'PAXC002' SubClassOf 'cancer cell line' 'PAXC002' SubClassOf 'bearer_of' some 'pancreatic carcinoma' 'PAXC002' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('pancreas' and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0022551 HK-1 'HK-1' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('nasopharynx' and ('part of' some 'Homo sapiens')))) 'HK-1' SubClassOf 'bearer_of' some 'nasopharyngeal type undifferentiated carcinoma' 'HK-1' SubClassOf 'cancer cell line' 'HK-1' SubClassOf 'Homo sapiens cell line' http://www.ebi.ac.uk/efo/EFO_0022547 MM-RU 'MM-RU' SubClassOf 'Homo sapiens cell line' 'MM-RU' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('lymph node' and ('part of' some 'Homo sapiens')))) 'MM-RU' SubClassOf 'melanoma cell line' http://www.ebi.ac.uk/efo/EFO_0022546 LCL 'LCL' SubClassOf 'lymphoblastoid cell line' 'LCL' SubClassOf 'part of' some 'Homo sapiens' 'LCL' SubClassOf 'part of' some 'blood' 'LCL' SubClassOf 'blood component' http://www.ebi.ac.uk/efo/EFO_0022549 MRC-5V1 'MRC-5V1' SubClassOf 'lung fibroblast derived cell line' 'MRC-5V1' SubClassOf 'Homo sapiens cell line' 'MRC-5V1' SubClassOf 'derives_from' some ('fibroblast of lung' and ('part of' some (('late embryo' or 'lung') and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0022548 MCF-7/MN1 'MCF-7/MN1' SubClassOf 'breast adenocarcinoma cell line' 'MCF-7/MN1' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('pleural effusion' and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0022543 Kit225 'Kit225' SubClassOf 'lymphoma or leukaemia cell line' 'Kit225' SubClassOf 'Homo sapiens cell line' 'Kit225' SubClassOf 'derives_from' some ('T cell' and ('part of' some ('blood' and ('part of' some 'Homo sapiens')))) 'Kit225' SubClassOf 'bearer_of' some 'T-Cell Prolymphocytic Leukemia' http://www.ebi.ac.uk/efo/EFO_0022542 J14 'J14' SubClassOf 'derives_from' some ('T cell' and ('part of' some ('blood' and ('part of' some 'Homo sapiens')))) 'J14' SubClassOf 'bearer_of' some 'T-cell acute lymphoblastic leukemia' 'J14' SubClassOf 'Homo sapiens cell line' 'J14' SubClassOf 'lymphoma or leukaemia cell line' http://www.ebi.ac.uk/efo/EFO_0022545 KT-1 'KT-1' SubClassOf 'chronic myelogenous leukemia cell line' 'KT-1' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('blood' and ('part of' some 'Homo sapiens')))) 'KT-1' SubClassOf 'Homo sapiens cell line' 'KT-1' SubClassOf 'bearer_of' some 'chronic myelogenous leukemia' http://www.ebi.ac.uk/efo/EFO_0022544 KK-47 'KK-47' SubClassOf 'bearer_of' some 'bladder transitional cell carcinoma' 'KK-47' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('urinary bladder' and ('part of' some 'Homo sapiens')))) 'KK-47' SubClassOf 'Homo sapiens cell line' 'KK-47' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0022541 JPM50.6 'JPM50.6' SubClassOf 'lymphoma or leukaemia cell line' 'JPM50.6' SubClassOf 'Homo sapiens cell line' 'JPM50.6' SubClassOf 'derives_from' some ('T cell' and ('part of' some ('blood' and ('part of' some 'Homo sapiens')))) 'JPM50.6' SubClassOf 'bearer_of' some 'T-cell acute lymphoblastic leukemia' http://www.ebi.ac.uk/efo/EFO_0022540 J.CaM2.5 'J.CaM2.5' SubClassOf 'lymphoma or leukaemia cell line' 'J.CaM2.5' SubClassOf 'derives_from' some ('T cell' and ('part of' some ('blood' and ('part of' some 'Homo sapiens')))) 'J.CaM2.5' SubClassOf 'Homo sapiens cell line' 'J.CaM2.5' SubClassOf 'bearer_of' some 'T-cell acute lymphoblastic leukemia' http://www.ebi.ac.uk/efo/EFO_0022579 KOSE 'KOSE' SubClassOf 'lymphoblastoid cell line' 'KOSE' SubClassOf 'part of' some 'blood' 'KOSE' SubClassOf 'blood component' 'KOSE' SubClassOf 'part of' some 'Homo sapiens' http://www.ebi.ac.uk/efo/EFO_0022576 EC-9706 'EC-9706' SubClassOf 'bearer_of' some 'esophageal cancer' 'EC-9706' SubClassOf 'Homo sapiens cell line' 'EC-9706' SubClassOf 'cancer cell line' 'EC-9706' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('esophagus' and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0022575 TYS 'TYS' SubClassOf 'Homo sapiens cell line' 'TYS' SubClassOf 'cancer cell line' 'TYS' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('saliva-secreting gland' and ('part of' some 'Homo sapiens')))) 'TYS' SubClassOf 'bearer_of' some 'Salivary Gland Adenosquamous Carcinoma' http://www.ebi.ac.uk/efo/EFO_0022578 G-292 'G-292' SubClassOf 'Homo sapiens cell line' 'G-292' SubClassOf 'osteosarcoma' 'G-292' SubClassOf 'osteosarcoma cell line' 'G-292' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('bone element' and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0022577 D-270MG 'D-270MG' SubClassOf 'cancer cell line' 'D-270MG' SubClassOf 'bearer_of' some 'glioblastoma' 'D-270MG' SubClassOf 'Homo sapiens cell line' 'D-270MG' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('brain' and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0022572 MED-MEB-8A 'MED-MEB-8A' SubClassOf 'Homo sapiens cell line' 'MED-MEB-8A' SubClassOf 'bearer_of' some 'medulloblastoma' 'MED-MEB-8A' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('brain' and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0022571 ONS-76 'ONS-76' SubClassOf 'Homo sapiens cell line' 'ONS-76' SubClassOf 'bearer_of' some 'medulloblastoma' 'ONS-76' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('brain' and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0022574 Rh-4 'Rh-4' SubClassOf 'cancer cell line' 'Rh-4' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('alveolus of lung' and ('part of' some 'Homo sapiens')))) 'Rh-4' SubClassOf 'Homo sapiens cell line' 'Rh-4' SubClassOf 'bearer_of' some 'alveolar rhabdomyosarcoma' http://www.ebi.ac.uk/efo/EFO_0022573 CLB-SAV 'CLB-SAV' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('ascitic fluid' and ('part of' some 'Homo sapiens')))) 'CLB-SAV' SubClassOf 'breast cancer cell line' 'CLB-SAV' SubClassOf 'Homo sapiens cell line' http://www.ebi.ac.uk/efo/EFO_0022570 AG02603 'AG02603' SubClassOf 'derives_from' some ('fibroblast' and ('part of' some ('lung' and ('part of' some 'Homo sapiens')))) 'AG02603' SubClassOf 'fibroblast derived cell line' 'AG02603' SubClassOf 'Homo sapiens cell line' http://www.ebi.ac.uk/efo/EFO_0022569 48BR '48BR' SubClassOf 'derives_from' some ('fibroblast' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) '48BR' SubClassOf 'fibroblast derived cell line' '48BR' SubClassOf 'Homo sapiens cell line' http://www.ebi.ac.uk/efo/EFO_0022568 HEK-293-Flp-In 'HEK-293-Flp-In' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('kidney' and ('part of' some 'Homo sapiens')))) 'HEK-293-Flp-In' SubClassOf 'HEK293' 'HEK-293-Flp-In' SubClassOf 'Homo sapiens cell line' http://www.ebi.ac.uk/efo/EFO_0022565 KCL-22 'KCL-22' SubClassOf 'chronic myelogenous leukemia cell line' 'KCL-22' SubClassOf 'Homo sapiens cell line' 'KCL-22' SubClassOf 'bearer_of' some 'chronic myelogenous leukemia' 'KCL-22' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('blood' and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0022564 HEK-293F 'HEK-293F' SubClassOf 'HEK293' 'HEK-293F' SubClassOf 'derives_from' some ('epithelial cell' and ('part of' some ('late embryo' or ('kidney' and ('part of' some 'Homo sapiens'))))) http://www.ebi.ac.uk/efo/EFO_0022567 Aska-SS 'Aska-SS' SubClassOf 'Homo sapiens cell line' 'Aska-SS' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) 'Aska-SS' SubClassOf 'bearer_of' some 'synovial sarcoma' 'Aska-SS' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0022566 SW13/cl.2 vim- 'SW13/cl.2 vim-' SubClassOf 'cancer cell line' 'SW13/cl.2 vim-' SubClassOf 'Homo sapiens cell line' 'SW13/cl.2 vim-' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) 'SW13/cl.2 vim-' SubClassOf 'bearer_of' some 'adrenal cortex carcinoma' http://www.ebi.ac.uk/efo/EFO_0022561 1HAEo '1HAEo' SubClassOf 'derives_from' some ('respiratory epithelial cell' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) '1HAEo' SubClassOf 'epithelial cell derived cell line' '1HAEo' SubClassOf 'Homo sapiens cell line' http://www.ebi.ac.uk/efo/EFO_0022560 1BR3 '1BR3' SubClassOf 'fibroblast derived cell line' '1BR3' SubClassOf 'derives_from' some ('fibroblast' and ('part of' some ('skin of body' and ('part of' some 'Homo sapiens')))) '1BR3' SubClassOf 'Homo sapiens cell line' http://www.ebi.ac.uk/efo/EFO_0022563 HEK-293ET 'HEK-293ET' SubClassOf 'derives_from' some ('fibroblast' and ('part of' some ('late embryo' or ('organism part' and ('part of' some 'Homo sapiens'))))) 'HEK-293ET' SubClassOf 'HEK293' http://www.ebi.ac.uk/efo/EFO_0022562 HEK-293-EBNA 'HEK-293-EBNA' SubClassOf 'HEK293' 'HEK-293-EBNA' SubClassOf 'derives_from' some ('epithelial cell' and ('part of' some ('late embryo' or ('kidney' and ('part of' some 'Homo sapiens'))))) http://www.ebi.ac.uk/efo/EFO_0022594 HCN-1A 'HCN-1A' SubClassOf 'bearer_of' some 'megalencephaly' 'HCN-1A' SubClassOf 'Homo sapiens cell line' 'HCN-1A' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0022593 YTS-Eco 'YTS-Eco' SubClassOf 'derives_from' some ('natural killer cell' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) 'YTS-Eco' SubClassOf 'lymphoma or leukaemia cell line' 'YTS-Eco' SubClassOf 'bearer_of' some 'neoplasm of mature T-cells or NK-cells' 'YTS-Eco' SubClassOf 'Homo sapiens cell line' http://www.ebi.ac.uk/efo/EFO_0022596 nucleosome 'nucleosome' SubClassOf 'intracellular non-membrane-bounded organelle' http://www.ebi.ac.uk/efo/EFO_0022595 PNT2 'PNT2' SubClassOf 'derives_from' some ('epithelial cell' and ('part of' some ('prostate gland' and ('part of' some 'Homo sapiens')))) 'PNT2' SubClassOf 'Homo sapiens cell line' 'PNT2' SubClassOf 'prostate derived cell line' 'PNT2' SubClassOf 'epithelial cell derived cell line' http://www.ebi.ac.uk/efo/EFO_0022590 Mel007 'Mel007' SubClassOf 'bearer_of' some 'melanoma' 'Mel007' SubClassOf 'Homo sapiens cell line' 'Mel007' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('skin of body' and ('part of' some 'Homo sapiens')))) 'Mel007' SubClassOf 'melanoma cell line' http://www.ebi.ac.uk/efo/EFO_0022592 CAL-33 'CAL-33' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('tongue' and ('part of' some 'Homo sapiens')))) 'CAL-33' SubClassOf 'Homo sapiens cell line' 'CAL-33' SubClassOf 'bearer_of' some 'tongue squamous cell carcinoma' 'CAL-33' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0022591 HPr-1 'HPr-1' SubClassOf 'Homo sapiens cell line' 'HPr-1' SubClassOf 'derives_from' some ('epithelial cell' and ('part of' some ('prostate gland' and ('part of' some 'Homo sapiens')))) 'HPr-1' SubClassOf 'prostate derived cell line' 'HPr-1' SubClassOf 'epithelial cell derived cell line' http://www.ebi.ac.uk/efo/EFO_0022587 HKB-11 'HKB-11' SubClassOf 'kidney derived cell line' 'HKB-11' SubClassOf 'bearer_of' some 'Burkitts lymphoma' 'HKB-11' SubClassOf 'derives_from' some ('B cell' and ('part of' some (('late embryo' or 'kidney') and ('part of' some 'Homo sapiens')))) 'HKB-11' SubClassOf 'Burkitt lymphoma cell' 'HKB-11' SubClassOf 'Homo sapiens cell line' 'HKB-11' SubClassOf 'B cell derived cell line' http://www.ebi.ac.uk/efo/EFO_0022586 M249 'M249' SubClassOf 'bearer_of' some 'melanoma' 'M249' SubClassOf 'melanoma cell line' 'M249' SubClassOf 'Homo sapiens cell line' 'M249' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('skin of body' and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0022589 EUFA121 'EUFA121' SubClassOf 'Homo sapiens cell line' 'EUFA121' SubClassOf 'bearer_of' some 'Fanconi anemia' 'EUFA121' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('blood' and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0022588 EUFA143 'EUFA143' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('blood' and ('part of' some 'Homo sapiens')))) 'EUFA143' SubClassOf 'bearer_of' some 'Fanconi anemia' 'EUFA143' SubClassOf 'Homo sapiens cell line' http://www.ebi.ac.uk/efo/EFO_0022583 SNU-251 'SNU-251' SubClassOf 'bearer_of' some 'ovarian endometrial cancer' 'SNU-251' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('ascitic fluid' and ('part of' some 'Homo sapiens')))) 'SNU-251' SubClassOf 'cancer cell line' 'SNU-251' SubClassOf 'Homo sapiens cell line' http://www.ebi.ac.uk/efo/EFO_0022582 SUP-T1 'SUP-T1' SubClassOf 'derives_from' some ('cultured cell' and ('part of' some ('pleural effusion' and ('part of' some 'Homo sapiens')))) 'SUP-T1' SubClassOf 'bearer_of' some 'T-cell non-Hodgkin lymphoma' 'SUP-T1' SubClassOf 'lymphoma or leukaemia cell line' http://www.ebi.ac.uk/efo/EFO_0022585 BOLETH 'BOLETH' SubClassOf 'blood component' 'BOLETH' SubClassOf 'part of' some 'blood' 'BOLETH' SubClassOf 'part of' some 'Homo sapiens' 'BOLETH' SubClassOf 'lymphoblastoid cell line' http://www.ebi.ac.uk/efo/EFO_0022584 SACC-LM 'SACC-LM' SubClassOf 'cancer cell line' 'SACC-LM' SubClassOf 'Homo sapiens cell line' 'SACC-LM' SubClassOf 'bearer_of' some 'salivary gland adenoid cystic carcinoma' 'SACC-LM' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('saliva-secreting gland' and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0022581 UACC-903 'UACC-903' SubClassOf 'Homo sapiens cell line' 'UACC-903' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('dorsum' and ('part of' some 'Homo sapiens')))) 'UACC-903' SubClassOf 'bearer_of' some 'melanoma' 'UACC-903' SubClassOf 'melanoma cell line' http://www.ebi.ac.uk/efo/EFO_0022580 BL-41 'BL-41' SubClassOf 'bearer_of' some 'Burkitts lymphoma' 'BL-41' SubClassOf 'Burkitt lymphoma cell' 'BL-41' SubClassOf 'Homo sapiens cell line' 'BL-41' SubClassOf 'B cell derived cell line' 'BL-41' SubClassOf 'derives_from' some ('mature B cell' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/MONDO_0024533 pulmonary hypertension, primary, 1 'pulmonary hypertension, primary, 1' SubClassOf 'heritable pulmonary arterial hypertension' http://purl.obolibrary.org/obo/HP_0007620 Cutaneous leiomyoma 'Cutaneous leiomyoma' SubClassOf 'Abnormality of the skin' http://purl.obolibrary.org/obo/MONDO_0024462 susceptibility to familial cutaneous melanoma 'susceptibility to familial cutaneous melanoma' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'cutaneous melanoma') 'susceptibility to familial cutaneous melanoma' SubClassOf 'hereditary neoplastic syndrome' 'susceptibility to familial cutaneous melanoma' SubClassOf 'predisposes towards' some 'cutaneous melanoma' http://purl.obolibrary.org/obo/MONDO_0000328 hyperphosphatemia 'hyperphosphatemia' SubClassOf 'phosphorus metabolism disease' http://purl.obolibrary.org/obo/MONDO_0014981 immunodeficiency 49 'immunodeficiency 49' SubClassOf 'inborn error of immunity' 'immunodeficiency 49' SubClassOf 'familial severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0700123 SMARCC1-associated developmental dysgenesis syndrome 'SMARCC1-associated developmental dysgenesis syndrome' SubClassOf 'BAFopathy' http://purl.obolibrary.org/obo/MONDO_0000079 nephrolithiasis/osteoporosis, hypophosphatemic 'nephrolithiasis/osteoporosis, hypophosphatemic' SubClassOf 'osteoporosis' http://purl.obolibrary.org/obo/MONDO_0014727 immunodeficiency 45 'immunodeficiency 45' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0014765 wooly hair, autosomal recessive 3 'wooly hair, autosomal recessive 3' SubClassOf 'isolated familial wooly hair disorder' 'wooly hair, autosomal recessive 3' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014597 immunodeficiency 39 'immunodeficiency 39' SubClassOf 'inborn error of immunity' http://purl.obolibrary.org/obo/MONDO_0700247 RAB18 deficiency 'RAB18 deficiency' SubClassOf 'syndromic microphthalmia' http://purl.obolibrary.org/obo/MONDO_0014491 immunodeficiency 37 'immunodeficiency 37' SubClassOf 'inborn error of immunity' http://purl.obolibrary.org/obo/MONDO_0009813 chronic recurrent multifocal osteomyelitis 'chronic recurrent multifocal osteomyelitis' SubClassOf 'autoinflammatory syndrome' 'chronic recurrent multifocal osteomyelitis' SubClassOf 'osteomyelitis' 'chronic recurrent multifocal osteomyelitis' SubClassOf 'hereditary disorder of connective tissue' http://purl.obolibrary.org/obo/MONDO_0010740 taurodontism, microdontia, and dens invaginatus 'taurodontism, microdontia, and dens invaginatus' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010647 spermatogenic failure, X-linked, 2 'spermatogenic failure, X-linked, 2' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/HP_0003225 Reduced coagulation factor V activity 'Reduced coagulation factor V activity' SubClassOf 'Abnormality of coagulation' http://purl.obolibrary.org/obo/MONDO_0010542 dilated cardiomyopathy 3B 'dilated cardiomyopathy 3B' SubClassOf 'qualitative or quantitative defects of dystrophin' 'dilated cardiomyopathy 3B' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0034054 severe combined immunodeficiency due to CD70 deficiency 'severe combined immunodeficiency due to CD70 deficiency' SubClassOf 'severe combined immunodeficiency' 'severe combined immunodeficiency due to CD70 deficiency' SubClassOf 'lymphoproliferative syndrome' http://purl.obolibrary.org/obo/MONDO_0010158 T-substance anomaly 'T-substance anomaly' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0020717 autosomal dominant wooly hair 'autosomal dominant wooly hair' SubClassOf 'genetic disorder' 'autosomal dominant wooly hair' SubClassOf 'isolated familial wooly hair disorder' http://purl.obolibrary.org/obo/MONDO_0044656 epidermolytic nevus 'epidermolytic nevus' SubClassOf 'keratinopathic ichthyosis' http://purl.obolibrary.org/obo/MONDO_0010919 varicella, severe recurrent 'varicella, severe recurrent' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030896 chromosome 13q33-q34 deletion syndrome 'chromosome 13q33-q34 deletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 13' http://purl.obolibrary.org/obo/MONDO_0054724 spermatogenic failure 20 'spermatogenic failure 20' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0054723 spermatogenic failure 19 'spermatogenic failure 19' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0054731 spermatogenic failure 27 'spermatogenic failure 27' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0054615 spermatogenic failure 18 'spermatogenic failure 18' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0054696 immunodeficiency 53 'immunodeficiency 53' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0011003 dilated cardiomyopathy 1E 'dilated cardiomyopathy 1E' SubClassOf 'syndromic disease' 'dilated cardiomyopathy 1E' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0000075 neuronopathy, distal hereditary motor 'neuronopathy, distal hereditary motor' SubClassOf 'motor neuron disease'