400 153 1 http://purl.obolibrary.org/obo/MONDO_0021553 transverse myelitis 'transverse myelitis' SubClassOf 'Myelitis' 'transverse myelitis' SubClassOf 'Myelitis' http://www.ebi.ac.uk/efo/EFO_1000183 Colon Dysplasia 'Colon Dysplasia' SubClassOf 'colonic disorder' 'Colon Dysplasia' SubClassOf 'colonic disorder' http://www.ebi.ac.uk/efo/EFO_1000353 Malignant Jugulotympanic Paraganglioma 'Malignant Jugulotympanic Paraganglioma' SubClassOf 'malignant tumor of neck' http://purl.obolibrary.org/obo/MONDO_0021496 benign neoplasm of lip 'benign neoplasm of lip' SubClassOf 'integumentary system benign neoplasm' 'benign neoplasm of lip' SubClassOf 'benign neoplasm' http://purl.obolibrary.org/obo/OBA_2044979 level of tumor necrosis factor receptor superfamily member 3 in blood serum 'level of tumor necrosis factor receptor superfamily member 3 in blood serum' SubClassOf 'inheres in' some ('tumor necrosis factor receptor superfamily member 3' and ('part of' some 'anatomical entity')) http://www.ebi.ac.uk/efo/EFO_0000660 polycystic ovary syndrome 'polycystic ovary syndrome' SubClassOf 'genetic disorder' 'polycystic ovary syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0021301 adenoma of nipple 'adenoma of nipple' SubClassOf 'integumentary system benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0011973 zinc deficiency, transient neonatal 'zinc deficiency, transient neonatal' SubClassOf 'genetic disorder' 'zinc deficiency, transient neonatal' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011853 Camptosynpolydactyly, complex 'Camptosynpolydactyly, complex' SubClassOf 'genetic disorder' 'Camptosynpolydactyly, complex' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011871 Niemann-Pick disease type B 'Niemann-Pick disease type B' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0060711 Jaberi-Elahi syndrome 'Jaberi-Elahi syndrome' SubClassOf 'genetic disorder' 'Jaberi-Elahi syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0060713 deafness, congenital heart defects, and posterior embryotoxon 'deafness, congenital heart defects, and posterior embryotoxon' SubClassOf 'genetic disorder' 'deafness, congenital heart defects, and posterior embryotoxon' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0021106 laminopathy 'laminopathy' SubClassOf 'genetic disorder' 'laminopathy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0060707 Ververi-Brady syndrome 'Ververi-Brady syndrome' SubClassOf 'genetic disorder' 'Ververi-Brady syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011790 Amish lethal microcephaly 'Amish lethal microcephaly' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0060745 intellectual developmental disorder with or without epilepsy or cerebellar ataxia 'intellectual developmental disorder with or without epilepsy or cerebellar ataxia' SubClassOf 'genetic disorder' 'intellectual developmental disorder with or without epilepsy or cerebellar ataxia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0060733 humerofemoral hypoplasia with radiotibial ray deficiency 'humerofemoral hypoplasia with radiotibial ray deficiency' SubClassOf 'genetic disorder' 'humerofemoral hypoplasia with radiotibial ray deficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0060720 congenital disorder of glycosylation with defective fucosylation 'congenital disorder of glycosylation with defective fucosylation' SubClassOf 'congenital disorder of glycosylation' 'congenital disorder of glycosylation with defective fucosylation' SubClassOf 'congenital disorder of glycosylation' http://purl.obolibrary.org/obo/MONDO_0060760 intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 'intellectual developmental disorder with dysmorphic facies and behavioral abnormalities' SubClassOf 'genetic disorder' 'intellectual developmental disorder with dysmorphic facies and behavioral abnormalities' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0060591 immunodeficiency, developmental delay, and hypohomocysteinemia 'immunodeficiency, developmental delay, and hypohomocysteinemia' SubClassOf 'genetic disorder' 'immunodeficiency, developmental delay, and hypohomocysteinemia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0060583 platelet abnormalities with eosinophilia and immune-mediated inflammatory disease 'platelet abnormalities with eosinophilia and immune-mediated inflammatory disease' SubClassOf 'genetic disorder' 'platelet abnormalities with eosinophilia and immune-mediated inflammatory disease' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0060589 facial palsy, congenital, with ptosis and velopharyngeal dysfunction 'facial palsy, congenital, with ptosis and velopharyngeal dysfunction' SubClassOf 'genetic disorder' 'facial palsy, congenital, with ptosis and velopharyngeal dysfunction' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0000705 spindle cell tumor 'spindle cell tumor' SubClassOf 'neoplasm' 'spindle cell tumor' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_0000760 malignant peripheral nerve sheath tumor 'malignant peripheral nerve sheath tumor' SubClassOf 'soft tissue sarcoma' 'malignant peripheral nerve sheath tumor' SubClassOf 'central nervous system sarcoma' 'malignant peripheral nerve sheath tumor' SubClassOf 'malignant glioma' http://purl.obolibrary.org/obo/MONDO_0060631 Alkuraya-Kucinskas syndrome 'Alkuraya-Kucinskas syndrome' SubClassOf 'genetic disorder' 'Alkuraya-Kucinskas syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0060611 combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia 'combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia' SubClassOf 'genetic disorder' 'combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0045034 infectious disease characteristic 'infectious disease characteristic' SubClassOf 'disease characteristic' 'infectious disease characteristic' SubClassOf 'disease characteristic' http://purl.obolibrary.org/obo/MONDO_0045040 locational disease characteristic 'locational disease characteristic' SubClassOf 'disease characteristic' 'locational disease characteristic' SubClassOf 'disease characteristic' http://purl.obolibrary.org/obo/MONDO_0060663 congenital heart defects, multiple types, 5 'congenital heart defects, multiple types, 5' SubClassOf 'genetic disorder' 'congenital heart defects, multiple types, 5' SubClassOf 'congenital heart defects, multiple types' 'congenital heart defects, multiple types, 5' SubClassOf 'genetic disorder' 'congenital heart defects, multiple types, 5' SubClassOf 'congenital heart defects, multiple types' http://purl.obolibrary.org/obo/MONDO_0060666 hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome 'hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome' SubClassOf 'genetic disorder' 'hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0060650 Leber congenital amaurosis with early-onset deafness 'Leber congenital amaurosis with early-onset deafness' SubClassOf 'Leber congenital amaurosis' 'Leber congenital amaurosis with early-onset deafness' SubClassOf 'Leber congenital amaurosis' http://purl.obolibrary.org/obo/MONDO_0060457 autoinflammation with arthritis and dyskeratosis 'autoinflammation with arthritis and dyskeratosis' SubClassOf 'genetic disorder' 'autoinflammation with arthritis and dyskeratosis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0060510 Cohen-Gibson syndrome 'Cohen-Gibson syndrome' SubClassOf 'genetic disorder' 'Cohen-Gibson syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0060507 retinal dystrophy with or without macular staphyloma 'retinal dystrophy with or without macular staphyloma' SubClassOf 'genetic disorder' 'retinal dystrophy with or without macular staphyloma' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0060551 cerebellar atrophy, developmental delay, and seizures 'cerebellar atrophy, developmental delay, and seizures' SubClassOf 'genetic disorder' 'cerebellar atrophy, developmental delay, and seizures' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0060549 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 'congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay' SubClassOf 'genetic disorder' 'congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0060532 congenital heart defects and skeletal malformations syndrome 'congenital heart defects and skeletal malformations syndrome' SubClassOf 'genetic disorder' 'congenital heart defects and skeletal malformations syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0060533 microcephaly, short stature, and limb abnormalities 'microcephaly, short stature, and limb abnormalities' SubClassOf 'genetic disorder' 'microcephaly, short stature, and limb abnormalities' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0060527 maleylacetoacetate isomerase deficiency 'maleylacetoacetate isomerase deficiency' SubClassOf 'genetic disorder' 'maleylacetoacetate isomerase deficiency' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0009385 familial tumoral calcinosis 'familial tumoral calcinosis' SubClassOf 'calcinosis' 'familial tumoral calcinosis' SubClassOf 'calcinosis' http://www.ebi.ac.uk/efo/EFO_0009297 fg syndrome 'fg syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0011450 breast-ovarian cancer, familial, susceptibility to, 1 'breast-ovarian cancer, familial, susceptibility to, 1' SubClassOf 'inherited disease susceptibility' 'breast-ovarian cancer, familial, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100526 http://purl.obolibrary.org/obo/MONDO_0016113 bulbospinal muscular atrophy 'bulbospinal muscular atrophy' SubClassOf 'spinal muscular atrophy' 'bulbospinal muscular atrophy' SubClassOf 'spinal muscular atrophy' http://www.ebi.ac.uk/efo/EFO_1000881 coronary aneurysm 'coronary aneurysm' SubClassOf 'coronary artery disease' 'coronary aneurysm' SubClassOf 'coronary artery disease' http://www.ebi.ac.uk/efo/EFO_0004994 lumbar disc degeneration 'lumbar disc degeneration' SubClassOf 'genetic disorder' 'lumbar disc degeneration' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_1000805 angioid streaks 'angioid streaks' SubClassOf 'genetic disorder' 'angioid streaks' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_1000818 arcus senilis 'arcus senilis' SubClassOf 'genetic disorder' 'arcus senilis' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0004893 testicular dysgenesis syndrome 'testicular dysgenesis syndrome' SubClassOf 'testicular disease' 'testicular dysgenesis syndrome' SubClassOf 'testicular disease' http://www.ebi.ac.uk/efo/EFO_1000940 Frey Syndrome 'Frey Syndrome' SubClassOf 'genetic disorder' 'Frey Syndrome' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_1000946 gastric mucosal hypertrophy 'gastric mucosal hypertrophy' SubClassOf 'genetic disorder' 'gastric mucosal hypertrophy' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_1000693 erythema infectiosum 'erythema infectiosum' SubClassOf 'Parvoviridae infectious disease' 'erythema infectiosum' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_1000763 sebaceous gland disease 'sebaceous gland disease' SubClassOf 'skin appendage disorder' http://www.ebi.ac.uk/efo/EFO_1000711 hyperpigmentation of eyelid 'hyperpigmentation of eyelid' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/OBA_2020007 level of triacylglycerol (56:6) in blood serum 'level of triacylglycerol (56:6) in blood serum' SubClassOf 'amount' 'level of triacylglycerol (56:6) in blood serum' SubClassOf 'level of triglyceride in blood serum' http://www.ebi.ac.uk/efo/EFO_1000496 Prolactin-Producing Pituitary Gland Adenoma 'Prolactin-Producing Pituitary Gland Adenoma' SubClassOf 'female infertility' 'Prolactin-Producing Pituitary Gland Adenoma' SubClassOf 'female reproductive system neoplasm' 'Prolactin-Producing Pituitary Gland Adenoma' SubClassOf 'male infertility' 'Prolactin-Producing Pituitary Gland Adenoma' SubClassOf 'reproductive system neoplasm' http://www.ebi.ac.uk/efo/EFO_0000206 stage II endometrioid carcinoma 'stage II endometrioid carcinoma' SubClassOf 'endometrioid carcinoma' 'stage II endometrioid carcinoma' SubClassOf 'endometrioid carcinoma' http://purl.obolibrary.org/obo/MONDO_0031001 vitreoretinopathy with phalangeal epiphyseal dysplasia 'vitreoretinopathy with phalangeal epiphyseal dysplasia' SubClassOf 'genetic disorder' 'vitreoretinopathy with phalangeal epiphyseal dysplasia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0002457 Treacher-Collins syndrome 'Treacher-Collins syndrome' SubClassOf 'hereditary syndromic Pierre Robin syndrome' http://purl.obolibrary.org/obo/MONDO_0002459 type IV hypersensitivity disease 'type IV hypersensitivity disease' SubClassOf 'type II hypersensitivity reaction disease' http://www.ebi.ac.uk/efo/EFO_0005192 red blood cell distribution width 'red blood cell distribution width' SubClassOf ('is_about' some 'hemorrhage') or ('is_about' some 'vitamin B12 deficiency') or ('is_about' some 'anemia (phenotype)') 'red blood cell distribution width' SubClassOf 'hematological measurement' 'red blood cell distribution width' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/HP_0000726 Dementia 'Dementia' SubClassOf 'inheres in' some 'brain' 'Dementia' SubClassOf 'Mental deterioration' http://purl.obolibrary.org/obo/MONDO_0016815 Leigh syndrome with leukodystrophy 'Leigh syndrome with leukodystrophy' SubClassOf 'Leigh syndrome' 'Leigh syndrome with leukodystrophy' SubClassOf 'Leigh syndrome' http://purl.obolibrary.org/obo/MONDO_0016814 maternally-inherited Leigh syndrome 'maternally-inherited Leigh syndrome' SubClassOf 'Leigh syndrome' 'maternally-inherited Leigh syndrome' SubClassOf 'Leigh syndrome' http://purl.obolibrary.org/obo/MONDO_0041806 drug-resistant tuberculosis 'drug-resistant tuberculosis' SubClassOf 'tuberculosis' 'drug-resistant tuberculosis' SubClassOf 'tuberculosis' http://purl.obolibrary.org/obo/MONDO_0016674 46,XY partial gonadal dysgenesis '46,XY partial gonadal dysgenesis' SubClassOf 'female infertility' '46,XY partial gonadal dysgenesis' SubClassOf 'male infertility' http://purl.obolibrary.org/obo/MONDO_0016553 isolated congenital hypogonadotropic hypogonadism 'isolated congenital hypogonadotropic hypogonadism' SubClassOf 'non-syndromic male infertility due to sperm motility disorder' 'isolated congenital hypogonadotropic hypogonadism' SubClassOf 'bearer_of' some 'has an isolated presentation' http://purl.obolibrary.org/obo/MONDO_0100350 neuronopathy, distal hereditary motor, type 5 'neuronopathy, distal hereditary motor, type 5' SubClassOf 'neuronopathy, distal hereditary motor' 'neuronopathy, distal hereditary motor, type 5' SubClassOf 'neuronopathy, distal hereditary motor' http://purl.obolibrary.org/obo/MONDO_0016424 progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome 'progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome' SubClassOf 'hypertrophic cardiomyopathy' 'progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome' SubClassOf 'hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0100234 paroxysmal familial ventricular fibrillation 'paroxysmal familial ventricular fibrillation' SubClassOf 'ventricular fibrillation' 'paroxysmal familial ventricular fibrillation' SubClassOf 'ventricular fibrillation' http://purl.obolibrary.org/obo/MONDO_0100249 46,XX testicular disorder of sex development '46,XX testicular disorder of sex development' SubClassOf 'male infertility' http://purl.obolibrary.org/obo/MONDO_0016366 maternal phenylketonuria 'maternal phenylketonuria' SubClassOf 'phenylketonuria' 'maternal phenylketonuria' SubClassOf 'phenylketonuria' http://purl.obolibrary.org/obo/MONDO_0100164 permanent neonatal diabetes mellitus 'permanent neonatal diabetes mellitus' SubClassOf 'neonatal diabetes mellitus' 'permanent neonatal diabetes mellitus' SubClassOf 'neonatal diabetes mellitus' http://purl.obolibrary.org/obo/MONDO_0100130 adult acute respiratory distress syndrome 'adult acute respiratory distress syndrome' SubClassOf 'acute respiratory distress syndrome' 'adult acute respiratory distress syndrome' SubClassOf 'acute respiratory distress syndrome' http://purl.obolibrary.org/obo/MONDO_0100131 pediatric acute respiratory distress syndrome 'pediatric acute respiratory distress syndrome' SubClassOf 'acute respiratory distress syndrome' 'pediatric acute respiratory distress syndrome' SubClassOf 'acute respiratory distress syndrome' http://purl.obolibrary.org/obo/MONDO_0016385 hypogonadism-mitral valve prolapse-intellectual disability syndrome 'hypogonadism-mitral valve prolapse-intellectual disability syndrome' SubClassOf 'male infertility' 'hypogonadism-mitral valve prolapse-intellectual disability syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0100210 growth hormone insensitivity syndrome with immune dysregulation 'growth hormone insensitivity syndrome with immune dysregulation' SubClassOf 'growth hormone insensitivity syndrome' 'growth hormone insensitivity syndrome with immune dysregulation' SubClassOf 'growth hormone insensitivity syndrome' http://purl.obolibrary.org/obo/MONDO_0100213 IFAP syndrome with or without BRESHECK syndrome 'IFAP syndrome with or without BRESHECK syndrome' SubClassOf 'IFAP syndrome' 'IFAP syndrome with or without BRESHECK syndrome' SubClassOf 'IFAP syndrome' http://www.ebi.ac.uk/efo/EFO_0005846 cryoglobulinemia 'cryoglobulinemia' SubClassOf 'type II hypersensitivity reaction disease' http://www.ebi.ac.uk/efo/EFO_0005855 narcolepsy without cataplexy 'narcolepsy without cataplexy' SubClassOf 'narcolepsy' 'narcolepsy without cataplexy' SubClassOf 'narcolepsy' http://purl.obolibrary.org/obo/MONDO_0100087 familial Alzheimer disease 'familial Alzheimer disease' SubClassOf 'Alzheimer disease' 'familial Alzheimer disease' SubClassOf 'Alzheimer disease' http://purl.obolibrary.org/obo/MONDO_0100054 idiopathic anaphylaxis 'idiopathic anaphylaxis' SubClassOf 'anaphylaxis' 'idiopathic anaphylaxis' SubClassOf 'anaphylaxis' http://purl.obolibrary.org/obo/MONDO_0100035 structural epilepsy 'structural epilepsy' SubClassOf 'epilepsy' 'structural epilepsy' SubClassOf 'epilepsy' http://purl.obolibrary.org/obo/MONDO_0100016 early-onset generalized dystonia 'early-onset generalized dystonia' SubClassOf 'generalized dystonia' 'early-onset generalized dystonia' SubClassOf 'generalized dystonia' http://purl.obolibrary.org/obo/MONDO_0016281 46,XX ovotesticular disorder of sex development '46,XX ovotesticular disorder of sex development' SubClassOf 'female infertility' http://purl.obolibrary.org/obo/MONDO_0100022 neonatal/infantile epilepsy syndrome 'neonatal/infantile epilepsy syndrome' SubClassOf 'epilepsy syndrome' 'neonatal/infantile epilepsy syndrome' SubClassOf 'epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0600030 B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) 'B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)' SubClassOf 'B-cell acute lymphoblastic leukemia' 'B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)' SubClassOf 'B-cell acute lymphoblastic leukemia' http://purl.obolibrary.org/obo/MONDO_0100101 fetal akinesia deformation sequence 1 'fetal akinesia deformation sequence 1' SubClassOf 'fetal akinesia deformation sequence' 'fetal akinesia deformation sequence 1' SubClassOf 'fetal akinesia deformation sequence' http://www.ebi.ac.uk/efo/EFO_0005773 retinal detachment 'retinal detachment' SubClassOf 'genetic disorder' 'retinal detachment' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0009610 cervical spondylosis 'cervical spondylosis' SubClassOf 'genetic disorder' 'cervical spondylosis' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0009650 hyperproinsulinemia 'hyperproinsulinemia' SubClassOf 'genetic disorder' 'hyperproinsulinemia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012657 Mungan syndrome 'Mungan syndrome' SubClassOf 'genetic disorder' 'Mungan syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012658 brachydactyly type B2 'brachydactyly type B2' SubClassOf 'brachydactyly type B' 'brachydactyly type B2' SubClassOf 'brachydactyly type B' http://www.ebi.ac.uk/efo/EFO_0009607 pituitary gland disease 'pituitary gland disease' SubClassOf 'neuroendocrine disorder' 'pituitary gland disease' SubClassOf 'endocrine system disease' http://www.ebi.ac.uk/efo/EFO_0010594 Fms-related tyrosine kinase 3 ligand measurement 'Fms-related tyrosine kinase 3 ligand measurement' SubClassOf 'blood protein measurement' 'Fms-related tyrosine kinase 3 ligand measurement' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0012511 preterm premature rupture of the membranes 'preterm premature rupture of the membranes' SubClassOf 'genetic disorder' 'preterm premature rupture of the membranes' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome 'cardiomyopathy-hypotonia-lactic acidosis syndrome' SubClassOf 'lactic acidosis' 'cardiomyopathy-hypotonia-lactic acidosis syndrome' SubClassOf 'lactic acidosis' http://purl.obolibrary.org/obo/MONDO_0012586 coronary artery disease, autosomal dominant 2 'coronary artery disease, autosomal dominant 2' SubClassOf 'genetic disorder' 'coronary artery disease, autosomal dominant 2' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012328 trichilemmal cyst 'trichilemmal cyst' SubClassOf 'genetic disorder' 'trichilemmal cyst' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0002598 germinoma 'germinoma' SubClassOf 'germinomatous germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0002547 nerve sheath neoplasm 'nerve sheath neoplasm' SubClassOf 'glioma' http://purl.obolibrary.org/obo/MONDO_0007197 bladder diverticulum 'bladder diverticulum' SubClassOf 'genetic disorder' 'bladder diverticulum' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/OBA_2043688 level of STAM-binding protein in blood serum 'level of STAM-binding protein in blood serum' SubClassOf 'inheres in' some ('STAM-binding protein' and ('part of' some 'anatomical entity')) http://purl.obolibrary.org/obo/MONDO_0012909 skeletal defects, genital hypoplasia, and intellectual disability 'skeletal defects, genital hypoplasia, and intellectual disability' SubClassOf 'genetic disorder' 'skeletal defects, genital hypoplasia, and intellectual disability' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012933 breast-ovarian cancer, familial, susceptibility to, 2 'breast-ovarian cancer, familial, susceptibility to, 2' SubClassOf 'inherited disease susceptibility' 'breast-ovarian cancer, familial, susceptibility to, 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100526 http://www.ebi.ac.uk/efo/EFO_0008170 interleukin 12 receptor subunit beta-1 measurement 'interleukin 12 receptor subunit beta-1 measurement' SubClassOf 'blood protein measurement' 'interleukin 12 receptor subunit beta-1 measurement' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017424 non-syndromic brachydactyly 'non-syndromic brachydactyly' SubClassOf 'brachydactyly' 'non-syndromic brachydactyly' SubClassOf 'brachydactyly' http://purl.obolibrary.org/obo/MONDO_0017312 Perrault syndrome 'Perrault syndrome' SubClassOf 'female infertility' http://purl.obolibrary.org/obo/MONDO_0017382 familial clubfoot due to 5q31 microdeletion 'familial clubfoot due to 5q31 microdeletion' SubClassOf 'clubfoot' 'familial clubfoot due to 5q31 microdeletion' SubClassOf 'clubfoot' http://purl.obolibrary.org/obo/MONDO_0017383 familial clubfoot due to PITX1 point mutation 'familial clubfoot due to PITX1 point mutation' SubClassOf 'clubfoot' 'familial clubfoot due to PITX1 point mutation' SubClassOf 'clubfoot' http://purl.obolibrary.org/obo/MONDO_0007834 islet cell adenomatosis 'islet cell adenomatosis' SubClassOf 'genetic disorder' 'islet cell adenomatosis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007849 keratitis fugax hereditaria 'keratitis fugax hereditaria' SubClassOf 'genetic disorder' 'keratitis fugax hereditaria' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007883 periodic fever, immunodeficiency, and thrombocytopenia syndrome 'periodic fever, immunodeficiency, and thrombocytopenia syndrome' SubClassOf 'genetic disorder' 'periodic fever, immunodeficiency, and thrombocytopenia syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0017214 vitamin B12-responsive methylmalonic acidemia 'vitamin B12-responsive methylmalonic acidemia' SubClassOf 'methylmalonic acidemia' 'vitamin B12-responsive methylmalonic acidemia' SubClassOf 'methylmalonic acidemia' http://purl.obolibrary.org/obo/MONDO_0007779 autosomal dominant Opitz G/BBB syndrome 'autosomal dominant Opitz G/BBB syndrome' SubClassOf 'Opitz G/BBB syndrome' 'autosomal dominant Opitz G/BBB syndrome' SubClassOf 'autosomal dominant disease' 'autosomal dominant Opitz G/BBB syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017173 non-syndromic male infertility due to sperm motility disorder 'non-syndromic male infertility due to sperm motility disorder' SubClassOf 'male infertility' 'non-syndromic male infertility due to sperm motility disorder' SubClassOf 'male infertility' http://www.ebi.ac.uk/efo/EFO_0003948 gastroesophageal reflux disease 'gastroesophageal reflux disease' SubClassOf 'genetic disorder' 'gastroesophageal reflux disease' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007500 ear malformation 'ear malformation' SubClassOf 'genetic disorder' 'ear malformation' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0003857 arthrogryposis 'arthrogryposis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007450 neurohypophyseal diabetes insipidus 'neurohypophyseal diabetes insipidus' SubClassOf 'neuroendocrine disorder' http://purl.obolibrary.org/obo/MONDO_0007354 coloboma of optic nerve 'coloboma of optic nerve' SubClassOf 'genetic disorder' 'coloboma of optic nerve' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007380 lattice corneal dystrophy type I 'lattice corneal dystrophy type I' SubClassOf 'lattice corneal dystrophy' 'lattice corneal dystrophy type I' SubClassOf 'lattice corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0017967 testicular agenesis 'testicular agenesis' SubClassOf 'male infertility' http://purl.obolibrary.org/obo/MONDO_0017979 autoimmune lymphoproliferative syndrome 'autoimmune lymphoproliferative syndrome' SubClassOf 'type II hypersensitivity reaction disease' http://purl.obolibrary.org/obo/MONDO_0017973 non-classic congenital lipoid adrenal hyperplasia due to STAR deficency 'non-classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'male infertility' http://purl.obolibrary.org/obo/MONDO_0003350 granular cell leiomyosarcoma 'granular cell leiomyosarcoma' SubClassOf 'leiomyosarcoma' 'granular cell leiomyosarcoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003349 http://purl.obolibrary.org/obo/MONDO_0017990 catecholaminergic polymorphic ventricular tachycardia 'catecholaminergic polymorphic ventricular tachycardia' SubClassOf 'polymorphic ventricular tachycardia' 'catecholaminergic polymorphic ventricular tachycardia' SubClassOf 'polymorphic ventricular tachycardia' http://purl.obolibrary.org/obo/MONDO_0003257 posterior pituitary gland neoplasm 'posterior pituitary gland neoplasm' SubClassOf 'neuroendocrine disorder' http://purl.obolibrary.org/obo/MONDO_0003252 granular cell cancer 'granular cell cancer' SubClassOf 'malignant glioma' http://www.ebi.ac.uk/efo/EFO_0004242 obsessive-compulsive disorder 'obsessive-compulsive disorder' SubClassOf 'genetic disorder' 'obsessive-compulsive disorder' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0017806 15q overgrowth syndrome '15q overgrowth syndrome' SubClassOf 'overgrowth syndrome' '15q overgrowth syndrome' SubClassOf 'overgrowth syndrome' http://purl.obolibrary.org/obo/MONDO_0017688 disorder of glycolysis 'disorder of glycolysis' SubClassOf 'inborn disorder of purine or pyrimidine metabolism' http://www.ebi.ac.uk/efo/EFO_0004562 cryptorchidism 'cryptorchidism' SubClassOf 'genetic disorder' 'cryptorchidism' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013732 glucocorticoid therapy, response to 'glucocorticoid therapy, response to' SubClassOf 'genetic disorder' 'glucocorticoid therapy, response to' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013618 craniofacial anomalies and anterior segment dysgenesis syndrome 'craniofacial anomalies and anterior segment dysgenesis syndrome' SubClassOf 'genetic disorder' 'craniofacial anomalies and anterior segment dysgenesis syndrome' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0802653 interleukin-1 alpha measurement 'interleukin-1 alpha measurement' SubClassOf 'protein measurement' 'interleukin-1 alpha measurement' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0013660 arthrogryposis, Perthes disease, and upward gaze palsy 'arthrogryposis, Perthes disease, and upward gaze palsy' SubClassOf 'genetic disorder' 'arthrogryposis, Perthes disease, and upward gaze palsy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013680 cognitive impairment with or without cerebellar ataxia 'cognitive impairment with or without cerebellar ataxia' SubClassOf 'genetic disorder' 'cognitive impairment with or without cerebellar ataxia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013483 obesity, hyperphagia, and developmental delay 'obesity, hyperphagia, and developmental delay' SubClassOf 'genetic disorder' 'obesity, hyperphagia, and developmental delay' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013497 Okt4 epitope deficiency 'Okt4 epitope deficiency' SubClassOf 'genetic disorder' 'Okt4 epitope deficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013511 cyanosis, transient neonatal 'cyanosis, transient neonatal' SubClassOf 'genetic disorder' 'cyanosis, transient neonatal' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013532 protein Z deficiency 'protein Z deficiency' SubClassOf 'genetic disorder' 'protein Z deficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013549 N-acetylaspartate deficiency 'N-acetylaspartate deficiency' SubClassOf 'genetic disorder' 'N-acetylaspartate deficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013543 trypsinogen deficiency 'trypsinogen deficiency' SubClassOf 'genetic disorder' 'trypsinogen deficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013564 anhaptoglobinemia 'anhaptoglobinemia' SubClassOf 'genetic disorder' 'anhaptoglobinemia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013462 fucosyltransferase 6 deficiency 'fucosyltransferase 6 deficiency' SubClassOf 'genetic disorder' 'fucosyltransferase 6 deficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013251 Birbeck granule deficiency 'Birbeck granule deficiency' SubClassOf 'genetic disorder' 'Birbeck granule deficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013301 aromatase deficiency 'aromatase deficiency' SubClassOf 'male infertility' 'aromatase deficiency' SubClassOf 'female infertility' http://purl.obolibrary.org/obo/OBA_2042554 level of neurofilament light polypeptide in blood serum 'level of neurofilament light polypeptide in blood serum' SubClassOf 'inheres in' some ('neurofilament light polypeptide' and ('part of' some 'anatomical entity')) http://purl.obolibrary.org/obo/MONDO_0033547 Li-Ghorbani-Weisz-Hubshman syndrome 'Li-Ghorbani-Weisz-Hubshman syndrome' SubClassOf 'genetic disorder' 'Li-Ghorbani-Weisz-Hubshman syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0033546 neurodegeneration, infantile-onset, biotin-responsive 'neurodegeneration, infantile-onset, biotin-responsive' SubClassOf 'genetic disorder' 'neurodegeneration, infantile-onset, biotin-responsive' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0033544 Tolchin-Le Caignec syndrome 'Tolchin-Le Caignec syndrome' SubClassOf 'genetic disorder' 'Tolchin-Le Caignec syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0033543 cone-rod synaptic disorder syndrome, congenital nonprogressive 'cone-rod synaptic disorder syndrome, congenital nonprogressive' SubClassOf 'genetic disorder' 'cone-rod synaptic disorder syndrome, congenital nonprogressive' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008593 trichomegaly 'trichomegaly' SubClassOf 'genetic disorder' 'trichomegaly' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0033532 Suleiman-El-Hattab syndrome 'Suleiman-El-Hattab syndrome' SubClassOf 'genetic disorder' 'Suleiman-El-Hattab syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0033569 combined oxidative phosphorylation deficiency 49 'combined oxidative phosphorylation deficiency 49' SubClassOf 'genetic disorder' 'combined oxidative phosphorylation deficiency 49' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0033561 deeah syndrome 'deeah syndrome' SubClassOf 'genetic disorder' 'deeah syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0033560 mitochondrial complex 1 deficiency, nuclear type 35 'mitochondrial complex 1 deficiency, nuclear type 35' SubClassOf 'genetic disorder' 'mitochondrial complex 1 deficiency, nuclear type 35' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0033559 intellectual developmental disorder with seizures and language delay 'intellectual developmental disorder with seizures and language delay' SubClassOf 'genetic disorder' 'intellectual developmental disorder with seizures and language delay' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0033558 autoinflammation, immune dysregulation, and eosinophilia 'autoinflammation, immune dysregulation, and eosinophilia' SubClassOf 'genetic disorder' 'autoinflammation, immune dysregulation, and eosinophilia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0033570 combined oxidative phosphorylation deficiency 50 'combined oxidative phosphorylation deficiency 50' SubClassOf 'genetic disorder' 'combined oxidative phosphorylation deficiency 50' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0033572 intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies 'intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies' SubClassOf 'genetic disorder' 'intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008343 pulmonary atresia with ventricular septal defect 'pulmonary atresia with ventricular septal defect' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008248 pigmented purpuric eruption 'pigmented purpuric eruption' SubClassOf 'genetic disorder' 'pigmented purpuric eruption' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008280 Peutz-Jeghers syndrome 'Peutz-Jeghers syndrome' SubClassOf 'developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0023603 hereditary disorder of connective tissue 'hereditary disorder of connective tissue' SubClassOf 'genetic disorder' 'hereditary disorder of connective tissue' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome 'spinal muscular atrophy-progressive myoclonic epilepsy syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100524 'spinal muscular atrophy-progressive myoclonic epilepsy syndrome' SubClassOf 'hereditary motor neuron disease' http://purl.obolibrary.org/obo/MONDO_0023692 maple syrup urine disease type 1B 'maple syrup urine disease type 1B' SubClassOf 'maple syrup urine disease' 'maple syrup urine disease type 1B' SubClassOf 'maple syrup urine disease' http://purl.obolibrary.org/obo/MONDO_0023691 maple syrup urine disease type 1A 'maple syrup urine disease type 1A' SubClassOf 'maple syrup urine disease' 'maple syrup urine disease type 1A' SubClassOf 'maple syrup urine disease' http://purl.obolibrary.org/obo/UBERON_0000007 pituitary gland 'pituitary gland' SubClassOf 'part of' some 'nervous system' http://purl.obolibrary.org/obo/MONDO_0008959 CHAND syndrome 'CHAND syndrome' SubClassOf 'genetic disorder' 'CHAND syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0018328 homozygous familial hypercholesterolemia 'homozygous familial hypercholesterolemia' SubClassOf 'familial hypercholesterolemia' 'homozygous familial hypercholesterolemia' SubClassOf 'familial hypercholesterolemia' http://purl.obolibrary.org/obo/MONDO_0008848 atrioventricular dissociation 'atrioventricular dissociation' SubClassOf 'genetic disorder' 'atrioventricular dissociation' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0018292 congenital disorder of glycosylation-related bone disorder 'congenital disorder of glycosylation-related bone disorder' SubClassOf 'congenital disorder of glycosylation' 'congenital disorder of glycosylation-related bone disorder' SubClassOf 'congenital disorder of glycosylation' http://purl.obolibrary.org/obo/MONDO_0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 'classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'female infertility' 'classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'male infertility' http://purl.obolibrary.org/obo/MONDO_0008725 congenital lipoid adrenal hyperplasia due to STAR deficency 'congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'female infertility' http://purl.obolibrary.org/obo/MONDO_0008723 very long chain acyl-CoA dehydrogenase deficiency 'very long chain acyl-CoA dehydrogenase deficiency' SubClassOf 'long chain acyl-CoA dehydrogenase deficiency' 'very long chain acyl-CoA dehydrogenase deficiency' SubClassOf 'disorder of fatty acid oxidation and ketogenesis' 'very long chain acyl-CoA dehydrogenase deficiency' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency 'congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'congenital adrenal hyperplasia' 'congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'congenital adrenal hyperplasia' http://purl.obolibrary.org/obo/MONDO_0008630 urinary bladder, atony of 'urinary bladder, atony of' SubClassOf 'genetic disorder' 'urinary bladder, atony of' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008666 volvulus of midgut 'volvulus of midgut' SubClassOf 'genetic disorder' 'volvulus of midgut' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0033621 spinal muscular atrophy, infantile, James type 'spinal muscular atrophy, infantile, James type' SubClassOf 'genetic disorder' 'spinal muscular atrophy, infantile, James type' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0033619 myopathy, epilepsy, and progressive cerebral atrophy 'myopathy, epilepsy, and progressive cerebral atrophy' SubClassOf 'genetic disorder' 'myopathy, epilepsy, and progressive cerebral atrophy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0033618 Vissers-Bodmer syndrome 'Vissers-Bodmer syndrome' SubClassOf 'genetic disorder' 'Vissers-Bodmer syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0033667 Delpire-McNeill syndrome 'Delpire-McNeill syndrome' SubClassOf 'genetic disorder' 'Delpire-McNeill syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0033664 Kilquist syndrome 'Kilquist syndrome' SubClassOf 'genetic disorder' 'Kilquist syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0018053 trichothiodystrophy 'trichothiodystrophy' SubClassOf 'male infertility' http://purl.obolibrary.org/obo/MONDO_0014250 familial hyperprolactinemia 'familial hyperprolactinemia' SubClassOf 'female infertility' 'familial hyperprolactinemia' SubClassOf 'male infertility' http://purl.obolibrary.org/obo/MONDO_0014263 8q24.3 microdeletion syndrome '8q24.3 microdeletion syndrome' SubClassOf 'genetic disorder' '8q24.3 microdeletion syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0004917 internal hordeolum 'internal hordeolum' SubClassOf 'skin appendage disorder' http://purl.obolibrary.org/obo/MONDO_0014300 proximal myopathy with extrapyramidal signs 'proximal myopathy with extrapyramidal signs' SubClassOf 'myopathy' 'proximal myopathy with extrapyramidal signs' SubClassOf 'myopathy' http://purl.obolibrary.org/obo/MONDO_0014008 phosphohydroxylysinuria 'phosphohydroxylysinuria' SubClassOf 'genetic disorder' 'phosphohydroxylysinuria' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0004748 lip disorder 'lip disorder' SubClassOf 'integumentary system disease' http://purl.obolibrary.org/obo/MONDO_0004603 collagenopathy 'collagenopathy' SubClassOf 'connective tissue disease' 'collagenopathy' SubClassOf 'connective tissue disease' http://www.ebi.ac.uk/efo/EFO_0003047 hepatitis C virus infection 'hepatitis C virus infection' SubClassOf 'Flaviviridae infectious disease' http://purl.obolibrary.org/obo/MONDO_0018956 idiopathic bronchiectasis 'idiopathic bronchiectasis' SubClassOf 'bronchiectasis' 'idiopathic bronchiectasis' SubClassOf 'bronchiectasis' http://purl.obolibrary.org/obo/MONDO_0018964 homocystinuria without methylmalonic aciduria 'homocystinuria without methylmalonic aciduria' SubClassOf 'homocystinuria' 'homocystinuria without methylmalonic aciduria' SubClassOf 'homocystinuria' http://purl.obolibrary.org/obo/MONDO_0018982 Niemann-Pick disease type C 'Niemann-Pick disease type C' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0018801 congenital bilateral absence of vas deferens 'congenital bilateral absence of vas deferens' SubClassOf 'non-syndromic male infertility due to sperm motility disorder' http://purl.obolibrary.org/obo/MONDO_0004247 peptic ulcer disease 'peptic ulcer disease' SubClassOf 'ulcer disease' 'peptic ulcer disease' SubClassOf 'ulcer disease' http://purl.obolibrary.org/obo/MONDO_0018888 congenital cornea plana 'congenital cornea plana' SubClassOf 'cornea plana' 'congenital cornea plana' SubClassOf 'cornea plana' http://purl.obolibrary.org/obo/MONDO_0010002 Rothmund-Thomson syndrome 'Rothmund-Thomson syndrome' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0024645 retroperitoneal neoplasm 'retroperitoneal neoplasm' SubClassOf 'neoplasm' 'retroperitoneal neoplasm' SubClassOf 'neoplasm' http://purl.obolibrary.org/obo/MONDO_0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities 'non-acquired combined pituitary hormone deficiency with spine abnormalities' SubClassOf 'non-acquired combined pituitary hormone deficiency' 'non-acquired combined pituitary hormone deficiency with spine abnormalities' SubClassOf 'non-acquired combined pituitary hormone deficiency' http://purl.obolibrary.org/obo/MONDO_0024489 general tumor grading characteristic 'general tumor grading characteristic' SubClassOf 'tumor grading characteristic' 'general tumor grading characteristic' SubClassOf 'tumor grading characteristic' http://purl.obolibrary.org/obo/MONDO_0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia 'inclusion body myopathy with Paget disease of bone and frontotemporal dementia' SubClassOf 'frontotemporal dementia' 'inclusion body myopathy with Paget disease of bone and frontotemporal dementia' SubClassOf 'frontotemporal dementia' http://www.ebi.ac.uk/efo/EFO_0007275 focal epithelial hyperplasia 'focal epithelial hyperplasia' SubClassOf 'genetic disorder' 'focal epithelial hyperplasia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0024417 perceptual disorders 'perceptual disorders' SubClassOf 'psychiatric disorder' http://purl.obolibrary.org/obo/MONDO_0000461 nutritional biotin deficiency 'nutritional biotin deficiency' SubClassOf 'vitamin deficiency disorder' 'nutritional biotin deficiency' SubClassOf 'vitamin deficiency disorder' http://purl.obolibrary.org/obo/MONDO_0014931 Alazami-Yuan syndrome 'Alazami-Yuan syndrome' SubClassOf 'genetic disorder' 'Alazami-Yuan syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014948 short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay 'short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay' SubClassOf 'genetic disorder' 'short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014946 Sifrim-Hitz-Weiss syndrome 'Sifrim-Hitz-Weiss syndrome' SubClassOf 'genetic disorder' 'Sifrim-Hitz-Weiss syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014940 neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset 'neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset' SubClassOf 'genetic disorder' 'neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014957 language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia 'language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia' SubClassOf 'genetic disorder' 'language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014956 Chitayat syndrome 'Chitayat syndrome' SubClassOf 'genetic disorder' 'Chitayat syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014963 Shashi-Pena syndrome 'Shashi-Pena syndrome' SubClassOf 'genetic disorder' 'Shashi-Pena syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014994 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 'global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies' SubClassOf 'genetic disorder' 'global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0700120 BAFopathy 'BAFopathy' SubClassOf 'genetic disorder' 'BAFopathy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0000173 muscular dystrophy-dystroglycanopathy, type C 'muscular dystrophy-dystroglycanopathy, type C' SubClassOf 'muscular dystrophy-dystroglycanopathy' 'muscular dystrophy-dystroglycanopathy, type C' SubClassOf 'muscular dystrophy-dystroglycanopathy' http://purl.obolibrary.org/obo/MONDO_0000172 muscular dystrophy-dystroglycanopathy, type B 'muscular dystrophy-dystroglycanopathy, type B' SubClassOf 'muscular dystrophy-dystroglycanopathy' 'muscular dystrophy-dystroglycanopathy, type B' SubClassOf 'muscular dystrophy-dystroglycanopathy' http://purl.obolibrary.org/obo/MONDO_0000171 muscular dystrophy-dystroglycanopathy, type A 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf 'developmental anomaly of metabolic origin' 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf 'muscular dystrophy-dystroglycanopathy' 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf 'muscular dystrophy-dystroglycanopathy' http://purl.obolibrary.org/obo/MONDO_0000181 microcephaly and chorioretinopathy 'microcephaly and chorioretinopathy' SubClassOf 'microcephaly' 'microcephaly and chorioretinopathy' SubClassOf 'microcephaly' http://www.ebi.ac.uk/efo/EFO_0007493 spondylolisthesis 'spondylolisthesis' SubClassOf 'genetic disorder' 'spondylolisthesis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014839 chorea, childhood-onset, with psychomotor retardation 'chorea, childhood-onset, with psychomotor retardation' SubClassOf 'genetic disorder' 'chorea, childhood-onset, with psychomotor retardation' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0000211 striatal degeneration, autosomal dominant 'striatal degeneration, autosomal dominant' SubClassOf 'striatonigral degeneration' 'striatal degeneration, autosomal dominant' SubClassOf 'striatonigral degeneration' http://purl.obolibrary.org/obo/MONDO_0014850 retinitis pigmentosa and erythrocytic microcytosis 'retinitis pigmentosa and erythrocytic microcytosis' SubClassOf 'genetic disorder' 'retinitis pigmentosa and erythrocytic microcytosis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0700071 myopathy caused by variation in POMT2 'myopathy caused by variation in POMT2' SubClassOf 'myopathy' 'myopathy caused by variation in POMT2' SubClassOf 'myopathy' http://purl.obolibrary.org/obo/MONDO_0700070 myopathy caused by variation in POMT1 'myopathy caused by variation in POMT1' SubClassOf 'myopathy' 'myopathy caused by variation in POMT1' SubClassOf 'myopathy' http://purl.obolibrary.org/obo/MONDO_0014863 macrocephaly, dysmorphic facies, and psychomotor retardation 'macrocephaly, dysmorphic facies, and psychomotor retardation' SubClassOf 'genetic disorder' 'macrocephaly, dysmorphic facies, and psychomotor retardation' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0700053 viral infectious disease, non-human animal 'viral infectious disease, non-human animal' SubClassOf 'infectious disease, non-human animal' 'viral infectious disease, non-human animal' SubClassOf 'infectious disease, non-human animal' http://purl.obolibrary.org/obo/MONDO_0014888 MIRAGE syndrome 'MIRAGE syndrome' SubClassOf 'genetic disorder' 'MIRAGE syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0000045 hypothyroidism, congenital, nongoitrous 'hypothyroidism, congenital, nongoitrous' SubClassOf 'congenital hypothyroidism' 'hypothyroidism, congenital, nongoitrous' SubClassOf 'congenital hypothyroidism' http://www.ebi.ac.uk/efo/EFO_0007329 interdigitating dendritic cell sarcoma 'interdigitating dendritic cell sarcoma' SubClassOf 'dendritic cell sarcoma' 'interdigitating dendritic cell sarcoma' SubClassOf 'dendritic cell sarcoma' http://purl.obolibrary.org/obo/MONDO_0000066 mitochondrial complex deficiency 'mitochondrial complex deficiency' SubClassOf 'inborn mitochondrial metabolism disorder' 'mitochondrial complex deficiency' SubClassOf 'inborn mitochondrial metabolism disorder' http://purl.obolibrary.org/obo/MONDO_0000060 microcephalic osteodysplastic primordial dwarfism 'microcephalic osteodysplastic primordial dwarfism' SubClassOf 'microcephaly' 'microcephalic osteodysplastic primordial dwarfism' SubClassOf 'microcephaly' http://purl.obolibrary.org/obo/MONDO_0000075 neuronopathy, distal hereditary motor 'neuronopathy, distal hereditary motor' SubClassOf 'motor neuron disease' 'neuronopathy, distal hereditary motor' SubClassOf 'motor neuron disease' http://purl.obolibrary.org/obo/MONDO_0000090 progressive external ophthalmoplegia with mitochondrial DNA deletions 'progressive external ophthalmoplegia with mitochondrial DNA deletions' SubClassOf 'progressive external ophthalmoplegia' 'progressive external ophthalmoplegia with mitochondrial DNA deletions' SubClassOf 'progressive external ophthalmoplegia' http://www.ebi.ac.uk/efo/EFO_0007358 Marburg hemorrhagic fever 'Marburg hemorrhagic fever' SubClassOf 'Filoviridae infectious disease' http://www.ebi.ac.uk/efo/EFO_0007381 multidrug-resistant tuberculosis 'multidrug-resistant tuberculosis' SubClassOf 'drug-resistant tuberculosis' 'multidrug-resistant tuberculosis' SubClassOf 'drug-resistant tuberculosis' http://purl.obolibrary.org/obo/MONDO_0000104 anemia, hypochromic microcytic with iron overload 'anemia, hypochromic microcytic with iron overload' SubClassOf 'hypochromic microcytic anemia' 'anemia, hypochromic microcytic with iron overload' SubClassOf 'hypochromic microcytic anemia' http://purl.obolibrary.org/obo/MONDO_0000115 Chiari malformation 'Chiari malformation' SubClassOf 'genetic disorder' 'Chiari malformation' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0000119 congenital heart defects, multiple types 'congenital heart defects, multiple types' SubClassOf 'congenital heart disease' 'congenital heart defects, multiple types' SubClassOf 'congenital heart disease' http://purl.obolibrary.org/obo/MONDO_0014766 leukodystrophy and acquired microcephaly with or without dystonia; 'leukodystrophy and acquired microcephaly with or without dystonia;' SubClassOf 'genetic disorder' 'leukodystrophy and acquired microcephaly with or without dystonia;' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0000128 giant axonal neuropathy 'giant axonal neuropathy' SubClassOf 'axonal neuropathy' 'giant axonal neuropathy' SubClassOf 'axonal neuropathy' http://purl.obolibrary.org/obo/MONDO_0000136 keratosis follicularis spinulosa decalvans 'keratosis follicularis spinulosa decalvans' SubClassOf 'folliculitis' 'keratosis follicularis spinulosa decalvans' SubClassOf 'keratosis' 'keratosis follicularis spinulosa decalvans' SubClassOf 'keratosis' http://purl.obolibrary.org/obo/MONDO_0000148 pulmonary fibrosis and/or bone marrow failure, telomere-related 'pulmonary fibrosis and/or bone marrow failure, telomere-related' SubClassOf 'bone marrow disorder' 'pulmonary fibrosis and/or bone marrow failure, telomere-related' SubClassOf 'pulmonary fibrosis' 'pulmonary fibrosis and/or bone marrow failure, telomere-related' SubClassOf 'pulmonary fibrosis' http://purl.obolibrary.org/obo/MONDO_0000152 thiamine-responsive dysfunction syndrome 'thiamine-responsive dysfunction syndrome' SubClassOf 'disorder of thiamine metabolism and transport' 'thiamine-responsive dysfunction syndrome' SubClassOf 'disorder of thiamine metabolism and transport' http://purl.obolibrary.org/obo/MONDO_0014795 exercise intolerance, riboflavin-responsive 'exercise intolerance, riboflavin-responsive' SubClassOf 'genetic disorder' 'exercise intolerance, riboflavin-responsive' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/OBA_2041454 level of eukaryotic translation initiation factor 4E-binding protein 1 in blood serum 'level of eukaryotic translation initiation factor 4E-binding protein 1 in blood serum' SubClassOf 'amount' 'level of eukaryotic translation initiation factor 4E-binding protein 1 in blood serum' SubClassOf http://purl.obolibrary.org/obo/OBA_2050337 http://purl.obolibrary.org/obo/MONDO_0000015 classic complement early component deficiency 'classic complement early component deficiency' SubClassOf 'complement deficiency' 'classic complement early component deficiency' SubClassOf 'complement deficiency' http://purl.obolibrary.org/obo/MONDO_0000014 colorblindness, partial 'colorblindness, partial' SubClassOf 'color vision disorder' 'colorblindness, partial' SubClassOf 'color vision disorder' http://purl.obolibrary.org/obo/MONDO_0014553 Tenorio syndrome 'Tenorio syndrome' SubClassOf 'genetic disorder' 'Tenorio syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009857 persistent Mullerian duct syndrome 'persistent Mullerian duct syndrome' SubClassOf 'male infertility' http://purl.obolibrary.org/obo/MONDO_0009889 autosomal recessive polycystic kidney disease 'autosomal recessive polycystic kidney disease' SubClassOf 'male infertility' http://purl.obolibrary.org/obo/MONDO_0010896 pigment dispersion syndrome 'pigment dispersion syndrome' SubClassOf 'genetic disorder' 'pigment dispersion syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0019229 inborn disorder of ketolysis 'inborn disorder of ketolysis' SubClassOf 'inherited lipid metabolism disorder' http://purl.obolibrary.org/obo/MONDO_0044203 foveal hypoplasia 'foveal hypoplasia' SubClassOf 'genetic disorder' 'foveal hypoplasia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010720 partial androgen insensitivity syndrome 'partial androgen insensitivity syndrome' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0009756 Niemann-Pick disease type A 'Niemann-Pick disease type A' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0019118 inherited retinal dystrophy 'inherited retinal dystrophy' SubClassOf 'vision disorder' 'inherited retinal dystrophy' SubClassOf 'perceptual disorders' http://purl.obolibrary.org/obo/MONDO_0020122 acquired idiopathic inflammatory myopathy 'acquired idiopathic inflammatory myopathy' SubClassOf 'idiopathic inflammatory myopathy' 'acquired idiopathic inflammatory myopathy' SubClassOf 'idiopathic inflammatory myopathy' http://purl.obolibrary.org/obo/MONDO_0019154 androgen insensitivity syndrome 'androgen insensitivity syndrome' SubClassOf 'developmental anomaly of metabolic origin' http://www.ebi.ac.uk/efo/EFO_1001382 Obesity Hypoventilation Syndrome 'Obesity Hypoventilation Syndrome' SubClassOf 'genetic disorder' 'Obesity Hypoventilation Syndrome' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_1001380 Niemann-Pick disease 'Niemann-Pick disease' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0009633 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 'microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma' SubClassOf 'genetic disorder' 'microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_1001298 Coxa Vara 'Coxa Vara' SubClassOf 'genetic disorder' 'Coxa Vara' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_1001450 Wolff-Parkinson-White Syndrome 'Wolff-Parkinson-White Syndrome' SubClassOf 'genetic disorder' 'Wolff-Parkinson-White Syndrome' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_1001481 enterocolitis 'enterocolitis' SubClassOf 'genetic disorder' 'enterocolitis' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_1001485 acromegaly 'acromegaly' SubClassOf 'female infertility' http://www.ebi.ac.uk/efo/EFO_1001496 Autosomal dominant polycystic kidney disease 'Autosomal dominant polycystic kidney disease' SubClassOf 'male infertility' http://www.ebi.ac.uk/efo/EFO_1001402 postencephalitic Parkinson disease 'postencephalitic Parkinson disease' SubClassOf 'parkinsonian disorder' http://purl.obolibrary.org/obo/MONDO_0009559 mandibulofacial dysostosis with mental deficiency 'mandibulofacial dysostosis with mental deficiency' SubClassOf 'genetic disorder' 'mandibulofacial dysostosis with mental deficiency' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_1001145 Raynaud disease 'Raynaud disease' SubClassOf 'genetic disorder' 'Raynaud disease' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009420 primary hypergonadotropic hypogonadism-partial alopecia syndrome 'primary hypergonadotropic hypogonadism-partial alopecia syndrome' SubClassOf 'male infertility' 'primary hypergonadotropic hypogonadism-partial alopecia syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009453 immune deficiency disease 'immune deficiency disease' SubClassOf 'genetic disorder' 'immune deficiency disease' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_1001030 male genital tuberculosis 'male genital tuberculosis' SubClassOf 'male infertility' 'male genital tuberculosis' SubClassOf 'male reproductive system disease' http://www.ebi.ac.uk/efo/EFO_1001227 ureterocele 'ureterocele' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0000904 complex cortical dysplasia with other brain malformations 'complex cortical dysplasia with other brain malformations' SubClassOf 'cancer or benign tumor' http://purl.obolibrary.org/obo/MONDO_0009305 granulocytopenia with immunoglobulin abnormality 'granulocytopenia with immunoglobulin abnormality' SubClassOf 'genetic disorder' 'granulocytopenia with immunoglobulin abnormality' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009218 Farber lipogranulomatosis 'Farber lipogranulomatosis' SubClassOf 'sphingolipidosis' 'Farber lipogranulomatosis' SubClassOf 'subcutaneous tissue disorder' 'Farber lipogranulomatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100524 http://purl.obolibrary.org/obo/MONDO_0009230 fibrosclerosis, multifocal 'fibrosclerosis, multifocal' SubClassOf 'genetic disorder' 'fibrosclerosis, multifocal' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010220 Young syndrome 'Young syndrome' SubClassOf 'male infertility' http://purl.obolibrary.org/obo/MONDO_0009270 genito-palato-cardiac syndrome 'genito-palato-cardiac syndrome' SubClassOf '46,XY disorder of sex development' 'genito-palato-cardiac syndrome' SubClassOf 'endocrine system disease' http://purl.obolibrary.org/obo/MONDO_0010268 X-linked lissencephaly with abnormal genitalia 'X-linked lissencephaly with abnormal genitalia' SubClassOf 'hereditary 46,XY disorder of sex development' http://purl.obolibrary.org/obo/MONDO_0009299 46 XX gonadal dysgenesis '46 XX gonadal dysgenesis' SubClassOf 'female infertility' http://purl.obolibrary.org/obo/MONDO_0010292 Uruguay Faciocardiomusculoskeletal syndrome 'Uruguay Faciocardiomusculoskeletal syndrome' SubClassOf 'genetic disorder' 'Uruguay Faciocardiomusculoskeletal syndrome' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_1001006 Klinefelter's syndrome 'Klinefelter's syndrome' SubClassOf 'male infertility' http://www.ebi.ac.uk/efo/EFO_1001019 lip cancer 'lip cancer' SubClassOf 'integumentary system cancer' http://purl.obolibrary.org/obo/MONDO_0010142 hypothyroidism due to TSH receptor mutations 'hypothyroidism due to TSH receptor mutations' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0010159 mismatch repair cancer syndrome 1 'mismatch repair cancer syndrome 1' SubClassOf 'mismatch repair cancer syndrome' 'mismatch repair cancer syndrome 1' SubClassOf 'mismatch repair cancer syndrome' http://purl.obolibrary.org/obo/MONDO_0019929 49,XXXXY syndrome '49,XXXXY syndrome' SubClassOf 'male infertility' http://purl.obolibrary.org/obo/MONDO_0019928 48,XXXY syndrome '48,XXXY syndrome' SubClassOf 'male infertility' http://purl.obolibrary.org/obo/MONDO_0020811 mitochondrial complex III deficiency, nuclear type 'mitochondrial complex III deficiency, nuclear type' SubClassOf 'mitochondrial complex III deficiency' 'mitochondrial complex III deficiency, nuclear type' SubClassOf 'mitochondrial complex III deficiency' http://purl.obolibrary.org/obo/MONDO_0020852 spermatogenic failure 31 'spermatogenic failure 31' SubClassOf 'azoospermia' 'spermatogenic failure 31' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0019864 tetrasomy 21 'tetrasomy 21' SubClassOf 'tetrasomy' 'tetrasomy 21' SubClassOf 'tetrasomy' http://purl.obolibrary.org/obo/MONDO_0029144 extraoral halitosis due to methanethiol oxidase deficiency 'extraoral halitosis due to methanethiol oxidase deficiency' SubClassOf 'genetic disorder' 'extraoral halitosis due to methanethiol oxidase deficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0029143 intellectual developmental disorder with hypertelorism and distinctive facies 'intellectual developmental disorder with hypertelorism and distinctive facies' SubClassOf 'genetic disorder' 'intellectual developmental disorder with hypertelorism and distinctive facies' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0029133 muscular dystrophy, limb-girdle, autosomal dominant 4 'muscular dystrophy, limb-girdle, autosomal dominant 4' SubClassOf 'muscular dystrophy, limb-girdle, autosomal dominant' 'muscular dystrophy, limb-girdle, autosomal dominant 4' SubClassOf 'muscular dystrophy, limb-girdle, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0029131 peripheral neuropathy, autosomal recessive, with or without impaired intellectual development 'peripheral neuropathy, autosomal recessive, with or without impaired intellectual development' SubClassOf 'genetic disorder' 'peripheral neuropathy, autosomal recessive, with or without impaired intellectual development' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/OBA_2045187 level of Ceramide (d42:1) in blood serum 'level of Ceramide (d42:1) in blood serum' SubClassOf 'amount' 'level of Ceramide (d42:1) in blood serum' SubClassOf 'level of ceramide in blood serum' http://purl.obolibrary.org/obo/OBA_2045186 level of Ceramide (d42:2) in blood serum 'level of Ceramide (d42:2) in blood serum' SubClassOf 'amount' 'level of Ceramide (d42:2) in blood serum' SubClassOf 'level of ceramide in blood serum' http://purl.obolibrary.org/obo/MONDO_0020647 microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome 'microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome' SubClassOf 'genetic disorder' 'microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0019680 genochondromatosis type 2 'genochondromatosis type 2' SubClassOf 'genochondromatosis' 'genochondromatosis type 2' SubClassOf 'genochondromatosis' http://purl.obolibrary.org/obo/MONDO_0019674 postaxial polydactyly type B 'postaxial polydactyly type B' SubClassOf 'postaxial polydactyly' 'postaxial polydactyly type B' SubClassOf 'postaxial polydactyly' http://purl.obolibrary.org/obo/MONDO_0019673 postaxial polydactyly type A 'postaxial polydactyly type A' SubClassOf 'postaxial polydactyly' 'postaxial polydactyly type A' SubClassOf 'postaxial polydactyly' http://purl.obolibrary.org/obo/MONDO_0030004 autism, susceptibility to, 20 'autism, susceptibility to, 20' SubClassOf 'autism, susceptiblity to' 'autism, susceptibility to, 20' SubClassOf 'autism, susceptiblity to' http://purl.obolibrary.org/obo/MONDO_0030038 glaucoma, primary closed-angle 'glaucoma, primary closed-angle' SubClassOf 'genetic disorder' 'glaucoma, primary closed-angle' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030033 seizures, early-onset, with neurodegeneration and brain calcifications 'seizures, early-onset, with neurodegeneration and brain calcifications' SubClassOf 'genetic disorder' 'seizures, early-onset, with neurodegeneration and brain calcifications' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030036 leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome 'leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome' SubClassOf 'genetic disorder' 'leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030035 leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome 'leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome' SubClassOf 'genetic disorder' 'leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030030 Nizon-Isidor syndrome 'Nizon-Isidor syndrome' SubClassOf 'genetic disorder' 'Nizon-Isidor syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030029 skeletal dysplasia, mild, with joint laxity and advanced bone age 'skeletal dysplasia, mild, with joint laxity and advanced bone age' SubClassOf 'genetic disorder' 'skeletal dysplasia, mild, with joint laxity and advanced bone age' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030028 neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline 'neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline' SubClassOf 'genetic disorder' 'neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030055 sorbitol dehydrogenase deficiency with peripheral neuropathy 'sorbitol dehydrogenase deficiency with peripheral neuropathy' SubClassOf 'genetic disorder' 'sorbitol dehydrogenase deficiency with peripheral neuropathy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030057 neurodevelopmental, jaw, eye, and digital syndrome 'neurodevelopmental, jaw, eye, and digital syndrome' SubClassOf 'genetic disorder' 'neurodevelopmental, jaw, eye, and digital syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030051 intellectual developmental disorder with autistic features and language delay, with or without seizures 'intellectual developmental disorder with autistic features and language delay, with or without seizures' SubClassOf 'genetic disorder' 'intellectual developmental disorder with autistic features and language delay, with or without seizures' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_1001918 specific phobia 'specific phobia' SubClassOf 'genetic disorder' 'specific phobia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030049 46,xx sex reversal 5 '46,xx sex reversal 5' SubClassOf 'genetic disorder' '46,xx sex reversal 5' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_1001926 pathological gambling 'pathological gambling' SubClassOf 'genetic disorder' 'pathological gambling' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030047 microcephaly, developmental delay, and brittle hair syndrome 'microcephaly, developmental delay, and brittle hair syndrome' SubClassOf 'genetic disorder' 'microcephaly, developmental delay, and brittle hair syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030042 proteinuria, chronic benign 'proteinuria, chronic benign' SubClassOf 'genetic disorder' 'proteinuria, chronic benign' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030071 retinitis pigmentosa 89 'retinitis pigmentosa 89' SubClassOf 'genetic disorder' 'retinitis pigmentosa 89' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030074 spondylometaphyseal dysplasia with corneal dystrophy 'spondylometaphyseal dysplasia with corneal dystrophy' SubClassOf 'genetic disorder' 'spondylometaphyseal dysplasia with corneal dystrophy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030065 agenesis of corpus callosum, cardiac, ocular, and genital syndrome 'agenesis of corpus callosum, cardiac, ocular, and genital syndrome' SubClassOf 'genetic disorder' 'agenesis of corpus callosum, cardiac, ocular, and genital syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0020507 Cree leukoencephalopathy 'Cree leukoencephalopathy' SubClassOf 'leukoencephalopathy with vanishing white matter' 'Cree leukoencephalopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800448 http://purl.obolibrary.org/obo/MONDO_0020506 ovarioleukodystrophy 'ovarioleukodystrophy' SubClassOf 'leukoencephalopathy with vanishing white matter' 'ovarioleukodystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800448 http://purl.obolibrary.org/obo/MONDO_0019530 non-syndromic syndactyly 'non-syndromic syndactyly' SubClassOf 'syndactyly' 'non-syndromic syndactyly' SubClassOf 'syndactyly' http://purl.obolibrary.org/obo/MONDO_0019401 sporadic idiopathic steroid-resistant nephrotic syndrome 'sporadic idiopathic steroid-resistant nephrotic syndrome' SubClassOf 'steroid-resistant nephrotic syndrome' 'sporadic idiopathic steroid-resistant nephrotic syndrome' SubClassOf 'steroid-resistant nephrotic syndrome' http://purl.obolibrary.org/obo/MONDO_0019411 genochondromatosis type 1 'genochondromatosis type 1' SubClassOf 'genochondromatosis' 'genochondromatosis type 1' SubClassOf 'genochondromatosis' http://purl.obolibrary.org/obo/OBA_2045003 level of advanced glycosylation end product-specific receptor in blood serum 'level of advanced glycosylation end product-specific receptor in blood serum' SubClassOf 'inheres in' some ('advanced glycosylation end product-specific receptor' and ('part of' some 'anatomical entity')) http://purl.obolibrary.org/obo/MONDO_0020469 48,XYYY syndrome '48,XYYY syndrome' SubClassOf 'male infertility' http://purl.obolibrary.org/obo/OBA_2045062 level of Phosphatidylcholine (14:0_18:1) in blood serum 'level of Phosphatidylcholine (14:0_18:1) in blood serum' SubClassOf 'amount' 'level of Phosphatidylcholine (14:0_18:1) in blood serum' SubClassOf 'level of phosphatidylcholine in blood serum' http://purl.obolibrary.org/obo/OBA_2045061 level of Phosphatidylcholine (14:0_16:0) in blood serum 'level of Phosphatidylcholine (14:0_16:0) in blood serum' SubClassOf 'amount' 'level of Phosphatidylcholine (14:0_16:0) in blood serum' SubClassOf 'level of phosphatidylcholine in blood serum' http://purl.obolibrary.org/obo/MONDO_0019499 Turner syndrome 'Turner syndrome' SubClassOf 'female infertility' http://purl.obolibrary.org/obo/MONDO_0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf 'female infertility' '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf 'male infertility' http://purl.obolibrary.org/obo/MONDO_0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency '46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency' SubClassOf 'male infertility' http://purl.obolibrary.org/obo/OBA_2045099 level of Phosphatidylcholine (18:1_18:1) in blood serum 'level of Phosphatidylcholine (18:1_18:1) in blood serum' SubClassOf 'amount' 'level of Phosphatidylcholine (18:1_18:1) in blood serum' SubClassOf 'level of phosphatidylcholine in blood serum' http://purl.obolibrary.org/obo/OBA_2045089 level of Phosphatidylcholine (18:0_18:1) in blood serum 'level of Phosphatidylcholine (18:0_18:1) in blood serum' SubClassOf 'amount' 'level of Phosphatidylcholine (18:0_18:1) in blood serum' SubClassOf 'level of phosphatidylcholine in blood serum' http://purl.obolibrary.org/obo/OBA_2045087 level of Phosphatidylcholine (17:0_20:4) in blood serum 'level of Phosphatidylcholine (17:0_20:4) in blood serum' SubClassOf 'amount' 'level of Phosphatidylcholine (17:0_20:4) in blood serum' SubClassOf 'level of phosphatidylcholine in blood serum' http://purl.obolibrary.org/obo/OBA_2045094 level of Phosphatidylcholine (18:0_20:4) in blood serum 'level of Phosphatidylcholine (18:0_20:4) in blood serum' SubClassOf 'amount' 'level of Phosphatidylcholine (18:0_20:4) in blood serum' SubClassOf 'level of phosphatidylcholine in blood serum' http://purl.obolibrary.org/obo/OBA_2045078 level of Phosphatidylcholine (16:0_22:4) in blood serum 'level of Phosphatidylcholine (16:0_22:4) in blood serum' SubClassOf 'amount' 'level of Phosphatidylcholine (16:0_22:4) in blood serum' SubClassOf 'level of phosphatidylcholine in blood serum' http://purl.obolibrary.org/obo/OBA_2045076 level of Phosphatidylcholine (16:0_20:4) in blood serum 'level of Phosphatidylcholine (16:0_20:4) in blood serum' SubClassOf 'amount' 'level of Phosphatidylcholine (16:0_20:4) in blood serum' SubClassOf 'level of phosphatidylcholine in blood serum' http://purl.obolibrary.org/obo/OBA_2045082 level of Phosphatidylcholine (16:1_18:1) in blood serum 'level of Phosphatidylcholine (16:1_18:1) in blood serum' SubClassOf 'amount' 'level of Phosphatidylcholine (16:1_18:1) in blood serum' SubClassOf 'level of phosphatidylcholine in blood serum' http://purl.obolibrary.org/obo/OBA_2045086 level of Phosphatidylcholine (17:0_18:2) in blood serum 'level of Phosphatidylcholine (17:0_18:2) in blood serum' SubClassOf 'amount' 'level of Phosphatidylcholine (17:0_18:2) in blood serum' SubClassOf 'level of phosphatidylcholine in blood serum' http://purl.obolibrary.org/obo/OBA_2045085 level of Phosphatidylcholine (17:0_18:1) in blood serum 'level of Phosphatidylcholine (17:0_18:1) in blood serum' SubClassOf 'amount' 'level of Phosphatidylcholine (17:0_18:1) in blood serum' SubClassOf 'level of phosphatidylcholine in blood serum' http://purl.obolibrary.org/obo/OBA_2045068 level of Phosphatidylcholine (16:0_16:1) in blood serum 'level of Phosphatidylcholine (16:0_16:1) in blood serum' SubClassOf 'amount' 'level of Phosphatidylcholine (16:0_16:1) in blood serum' SubClassOf 'level of phosphatidylcholine in blood serum' http://purl.obolibrary.org/obo/OBA_2045067 level of Phosphatidylcholine (16:0_16:0) in blood serum 'level of Phosphatidylcholine (16:0_16:0) in blood serum' SubClassOf 'amount' 'level of Phosphatidylcholine (16:0_16:0) in blood serum' SubClassOf 'level of phosphatidylcholine in blood serum' http://purl.obolibrary.org/obo/OBA_2045065 level of Phosphatidylcholine (15:0_18:2) in blood serum 'level of Phosphatidylcholine (15:0_18:2) in blood serum' SubClassOf 'amount' 'level of Phosphatidylcholine (15:0_18:2) in blood serum' SubClassOf 'level of phosphatidylcholine in blood serum' http://purl.obolibrary.org/obo/OBA_2045069 level of Phosphatidylcholine (16:0_18:0) in blood serum 'level of Phosphatidylcholine (16:0_18:0) in blood serum' SubClassOf 'amount' 'level of Phosphatidylcholine (16:0_18:0) in blood serum' SubClassOf 'level of phosphatidylcholine in blood serum' http://purl.obolibrary.org/obo/OBA_2045070 level of Phosphatidylcholine (16:0_18:1) in blood serum 'level of Phosphatidylcholine (16:0_18:1) in blood serum' SubClassOf 'amount' 'level of Phosphatidylcholine (16:0_18:1) in blood serum' SubClassOf 'level of phosphatidylcholine in blood serum' http://www.ebi.ac.uk/efo/EFO_1001868 congenital contractures of the limbs and face, hypotonia, and developmental delay 'congenital contractures of the limbs and face, hypotonia, and developmental delay' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0019303 premature aging syndrome 'premature aging syndrome' SubClassOf 'disorder of development or morphogenesis' 'premature aging syndrome' SubClassOf 'disease' http://purl.obolibrary.org/obo/MONDO_0019310 recessive dystrophic epidermolysis bullosa inversa 'recessive dystrophic epidermolysis bullosa inversa' SubClassOf 'recessive dystrophic epidermolysis bullosa' 'recessive dystrophic epidermolysis bullosa inversa' SubClassOf 'recessive dystrophic epidermolysis bullosa' http://purl.obolibrary.org/obo/MONDO_0044303 congenital heart defects and ectodermal dysplasia 'congenital heart defects and ectodermal dysplasia' SubClassOf 'genetic disorder' 'congenital heart defects and ectodermal dysplasia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0044302 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 'congenital heart defects, dysmorphic facial features, and intellectual developmental disorder' SubClassOf 'genetic disorder' 'congenital heart defects, dysmorphic facial features, and intellectual developmental disorder' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/OBA_2045137 level of Phosphatidylethanolamine (16:0_20:4) in blood serum 'level of Phosphatidylethanolamine (16:0_20:4) in blood serum' SubClassOf 'amount' 'level of Phosphatidylethanolamine (16:0_20:4) in blood serum' SubClassOf 'level of phosphatidylethanolamine in blood serum' http://purl.obolibrary.org/obo/OBA_2045140 level of Phosphatidylethanolamine (18:0_20:4) in blood serum 'level of Phosphatidylethanolamine (18:0_20:4) in blood serum' SubClassOf 'amount' 'level of Phosphatidylethanolamine (18:0_20:4) in blood serum' SubClassOf 'level of phosphatidylethanolamine in blood serum' http://purl.obolibrary.org/obo/MONDO_0044316 thrombocytopenia, anemia, and myelofibrosis 'thrombocytopenia, anemia, and myelofibrosis' SubClassOf 'genetic disorder' 'thrombocytopenia, anemia, and myelofibrosis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/OBA_2045104 level of Phosphatidylcholine (18:1_20:4) in blood serum 'level of Phosphatidylcholine (18:1_20:4) in blood serum' SubClassOf 'amount' 'level of Phosphatidylcholine (18:1_20:4) in blood serum' SubClassOf 'level of phosphatidylcholine in blood serum' http://purl.obolibrary.org/obo/OBA_2045185 level of Ceramide (d40:1) in blood serum 'level of Ceramide (d40:1) in blood serum' SubClassOf 'amount' 'level of Ceramide (d40:1) in blood serum' SubClassOf 'level of ceramide in blood serum' http://purl.obolibrary.org/obo/OBA_2045184 level of Ceramide (d40:2) in blood serum 'level of Ceramide (d40:2) in blood serum' SubClassOf 'amount' 'level of Ceramide (d40:2) in blood serum' SubClassOf 'level of ceramide in blood serum' http://purl.obolibrary.org/obo/OBA_2045166 level of Triacylglycerol (53:4) in blood serum 'level of Triacylglycerol (53:4) in blood serum' SubClassOf 'amount' 'level of Triacylglycerol (53:4) in blood serum' SubClassOf 'level of triglyceride in blood serum' http://purl.obolibrary.org/obo/OBA_2045165 level of Triacylglycerol (53:3) in blood serum 'level of Triacylglycerol (53:3) in blood serum' SubClassOf 'amount' 'level of Triacylglycerol (53:3) in blood serum' SubClassOf 'level of triglyceride in blood serum' http://purl.obolibrary.org/obo/OBA_2045164 level of Triacylglycerol (51:4) in blood serum 'level of Triacylglycerol (51:4) in blood serum' SubClassOf 'amount' 'level of Triacylglycerol (51:4) in blood serum' SubClassOf 'level of triglyceride in blood serum' http://purl.obolibrary.org/obo/OBA_2045155 level of Phosphatidylinositol (18:0_18:1) in blood serum 'level of Phosphatidylinositol (18:0_18:1) in blood serum' SubClassOf 'amount' 'level of Phosphatidylinositol (18:0_18:1) in blood serum' SubClassOf 'level of phosphatidylinositol in blood serum' http://purl.obolibrary.org/obo/OBA_2045154 level of Phosphatidylinositol (16:0_20:4) in blood serum 'level of Phosphatidylinositol (16:0_20:4) in blood serum' SubClassOf 'amount' 'level of Phosphatidylinositol (16:0_20:4) in blood serum' SubClassOf 'level of phosphatidylinositol in blood serum' http://purl.obolibrary.org/obo/OBA_2045158 level of Phosphatidylinositol (18:0_20:4) in blood serum 'level of Phosphatidylinositol (18:0_20:4) in blood serum' SubClassOf 'amount' 'level of Phosphatidylinositol (18:0_20:4) in blood serum' SubClassOf 'level of phosphatidylinositol in blood serum' http://purl.obolibrary.org/obo/OBA_2045157 level of Phosphatidylinositol (18:0_20:3) in blood serum 'level of Phosphatidylinositol (18:0_20:3) in blood serum' SubClassOf 'amount' 'level of Phosphatidylinositol (18:0_20:3) in blood serum' SubClassOf 'level of phosphatidylinositol in blood serum' http://purl.obolibrary.org/obo/OBA_2045163 level of Triacylglycerol (51:3) in blood serum 'level of Triacylglycerol (51:3) in blood serum' SubClassOf 'amount' 'level of Triacylglycerol (51:3) in blood serum' SubClassOf 'level of triglyceride in blood serum' http://purl.obolibrary.org/obo/OBA_2045162 level of Triacylglycerol (49:2) in blood serum 'level of Triacylglycerol (49:2) in blood serum' SubClassOf 'amount' 'level of Triacylglycerol (49:2) in blood serum' SubClassOf 'level of triglyceride in blood serum' http://purl.obolibrary.org/obo/OBA_2045142 level of Phosphatidylethanolamine (18:1_18:1) in blood serum 'level of Phosphatidylethanolamine (18:1_18:1) in blood serum' SubClassOf 'amount' 'level of Phosphatidylethanolamine (18:1_18:1) in blood serum' SubClassOf 'level of phosphatidylethanolamine in blood serum' http://purl.obolibrary.org/obo/OBA_2045152 level of Phosphatidylinositol (16:0_18:1) in blood serum 'level of Phosphatidylinositol (16:0_18:1) in blood serum' SubClassOf 'amount' 'level of Phosphatidylinositol (16:0_18:1) in blood serum' SubClassOf 'level of phosphatidylinositol in blood serum' http://purl.obolibrary.org/obo/MONDO_0040566 inherited glutathione metabolism disease 'inherited glutathione metabolism disease' SubClassOf 'sulfur metabolism disease' http://purl.obolibrary.org/obo/MONDO_0015607 partial chromosome Y deletion 'partial chromosome Y deletion' SubClassOf 'male infertility' 'partial chromosome Y deletion' SubClassOf 'male infertility' http://purl.obolibrary.org/obo/MONDO_0015627 multiple epiphyseal dysplasia due to collagen 9 anomaly 'multiple epiphyseal dysplasia due to collagen 9 anomaly' SubClassOf 'collagenopathy' 'multiple epiphyseal dysplasia due to collagen 9 anomaly' SubClassOf 'hereditary disorder of connective tissue' http://purl.obolibrary.org/obo/MONDO_0015425 lethal recessive chondrodysplasia 'lethal recessive chondrodysplasia' SubClassOf 'chondrodysplasia' 'lethal recessive chondrodysplasia' SubClassOf 'chondrodysplasia' http://www.ebi.ac.uk/efo/EFO_0006792 Lewy body dementia 'Lewy body dementia' SubClassOf 'disease has feature' some 'Dementia' 'Lewy body dementia' SubClassOf 'disease has feature' some 'dementia' http://www.ebi.ac.uk/efo/EFO_0006791 vascular brain injury 'vascular brain injury' SubClassOf 'brain injury' 'vascular brain injury' SubClassOf 'brain injury' http://purl.obolibrary.org/obo/MONDO_0015519 congenital or early infantile CACH syndrome 'congenital or early infantile CACH syndrome' SubClassOf 'leukoencephalopathy with vanishing white matter' 'congenital or early infantile CACH syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800448 http://purl.obolibrary.org/obo/MONDO_0015521 juvenile or adult CACH syndrome 'juvenile or adult CACH syndrome' SubClassOf 'leukoencephalopathy with vanishing white matter' 'juvenile or adult CACH syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800448 http://purl.obolibrary.org/obo/MONDO_0015520 late infantile CACH syndrome 'late infantile CACH syndrome' SubClassOf 'leukoencephalopathy with vanishing white matter' 'late infantile CACH syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800448 http://purl.obolibrary.org/obo/MONDO_0030963 Li-Campeau syndrome 'Li-Campeau syndrome' SubClassOf 'genetic disorder' 'Li-Campeau syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030995 global developmental delay with speech and behavioral abnormalities 'global developmental delay with speech and behavioral abnormalities' SubClassOf 'genetic disorder' 'global developmental delay with speech and behavioral abnormalities' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0015350 17q11.2 microduplication syndrome '17q11.2 microduplication syndrome' SubClassOf 'genetic disorder' '17q11.2 microduplication syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030991 bile acid conjugation defect 1 'bile acid conjugation defect 1' SubClassOf 'genetic disorder' 'bile acid conjugation defect 1' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030893 leukoencephalopathy, progressive, infantile-onset, with or without deafness 'leukoencephalopathy, progressive, infantile-onset, with or without deafness' SubClassOf 'genetic disorder' 'leukoencephalopathy, progressive, infantile-onset, with or without deafness' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030900 intellectual developmental disorder with paroxysmal dyskinesia or seizures 'intellectual developmental disorder with paroxysmal dyskinesia or seizures' SubClassOf 'genetic disorder' 'intellectual developmental disorder with paroxysmal dyskinesia or seizures' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0015134 constitutional neutropenia 'constitutional neutropenia' SubClassOf 'neutropenia' 'constitutional neutropenia' SubClassOf 'neutropenia' http://purl.obolibrary.org/obo/MONDO_0015014 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness 'coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness' SubClassOf 'genetic disorder' 'coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0015019 Yao syndrome 'Yao syndrome' SubClassOf 'genetic disorder' 'Yao syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011323 arhinia, choanal atresia, and microphthalmia 'arhinia, choanal atresia, and microphthalmia' SubClassOf 'genetic disorder' 'arhinia, choanal atresia, and microphthalmia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011380 leukoencephalopathy with vanishing white matter 'leukoencephalopathy with vanishing white matter' SubClassOf 'leukodystrophy' 'leukoencephalopathy with vanishing white matter' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0011213 Pierpont syndrome 'Pierpont syndrome' SubClassOf 'genetic disorder' 'Pierpont syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/OBA_2040361 level of tumor necrosis factor receptor superfamily member 1A in blood serum 'level of tumor necrosis factor receptor superfamily member 1A in blood serum' SubClassOf 'inheres in' some ('tumor necrosis factor receptor superfamily member 1A' and ('part of' some 'anatomical entity')) http://purl.obolibrary.org/obo/OBA_2040342 level of interleukin-6 receptor subunit beta in blood serum 'level of interleukin-6 receptor subunit beta in blood serum' SubClassOf 'inheres in' some ('interleukin-6 receptor subunit beta' and ('part of' some 'anatomical entity')) http://purl.obolibrary.org/obo/OBA_2040333 level of SLAM family member 1 in blood serum 'level of SLAM family member 1 in blood serum' SubClassOf 'inheres in' some ('SLAM family member 1' and ('part of' some 'anatomical entity')) http://www.ebi.ac.uk/efo/EFO_0006342 aggressive periodontitis 'aggressive periodontitis' SubClassOf 'genetic disorder' 'aggressive periodontitis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0015779 45,X/46,XY mixed gonadal dysgenesis '45,X/46,XY mixed gonadal dysgenesis' SubClassOf 'male infertility' http://purl.obolibrary.org/obo/MONDO_0015770 congenital hypogonadotropic hypogonadism 'congenital hypogonadotropic hypogonadism' SubClassOf 'male infertility' 'congenital hypogonadotropic hypogonadism' SubClassOf 'female infertility' http://purl.obolibrary.org/obo/OBA_2040231 level of neural cell adhesion molecule 1 in blood serum 'level of neural cell adhesion molecule 1 in blood serum' SubClassOf 'inheres in' some ('neural cell adhesion molecule 1' and ('part of' some 'anatomical entity')) http://purl.obolibrary.org/obo/OBA_2040209 level of activin/inhibin beta A chain in blood serum 'level of activin/inhibin beta A chain in blood serum' SubClassOf 'inheres in' some ('activin/inhibin beta A chain' and ('part of' some 'anatomical entity')) http://purl.obolibrary.org/obo/MONDO_0015801 hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation 'hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation' SubClassOf 'hemorrhagic disease' 'hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation' SubClassOf 'hemorrhagic disease' http://purl.obolibrary.org/obo/MONDO_0800448 leukoencephalopathy with vanishing white matter 'leukoencephalopathy with vanishing white matter' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/CHEBI_80549 13,16,19-Docosatrienoic acid '13,16,19-Docosatrienoic acid' SubClassOf 'fatty acid' http://purl.obolibrary.org/obo/OBA_VT0010487 response to xenobiotic stimulus trait 'response to xenobiotic stimulus trait' SubClassOf 'response to xenobiotic stimulus' http://purl.obolibrary.org/obo/MONDO_0100524 ASAH1-related sphingolipidosis 'ASAH1-related sphingolipidosis' SubClassOf 'sphingolipidosis' http://purl.obolibrary.org/obo/MONDO_0100526 breast-ovarian cancer, familial, susceptibility to 'breast-ovarian cancer, familial, susceptibility to' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/CHEBI_135983 teriparatide 'teriparatide' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/MONDO_0012448 hereditary spastic paraplegia 33 'hereditary spastic paraplegia 33' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0012239 congenital myopathy 4B, autosomal recessive 'congenital myopathy 4B, autosomal recessive' SubClassOf 'childhood-onset nemaline myopathy' 'congenital myopathy 4B, autosomal recessive' SubClassOf 'TPM3-related myopathy' 'congenital myopathy 4B, autosomal recessive' SubClassOf 'intermediate nemaline myopathy' http://purl.obolibrary.org/obo/MONDO_0012720 Krabbe disease due to saposin A deficiency 'Krabbe disease due to saposin A deficiency' SubClassOf 'syndromic dyslipidemia' 'Krabbe disease due to saposin A deficiency' SubClassOf 'disease shares features of' some 'Krabbe disease' 'Krabbe disease due to saposin A deficiency' SubClassOf 'PSAP-related sphingolipidosis' http://purl.obolibrary.org/obo/OBA_1000312 vitamin D metabolic process quality 'vitamin D metabolic process quality' SubClassOf 'vitamin metabolic process' http://purl.obolibrary.org/obo/MONDO_0003349 central nervous system leiomyosarcoma 'central nervous system leiomyosarcoma' SubClassOf 'leiomyosarcoma' 'central nervous system leiomyosarcoma' SubClassOf 'central nervous system sarcoma' 'central nervous system leiomyosarcoma' SubClassOf 'malignant central nervous system mesenchymal, non-meningothelial neoplasm' http://purl.obolibrary.org/obo/HP_0045075 Sparse eyebrow 'Sparse eyebrow' SubClassOf 'Abnormality of the face' 'Sparse eyebrow' SubClassOf 'Abnormality of the integument' http://purl.obolibrary.org/obo/MONDO_0003244 central nervous system mesenchymal non-meningothelial tumor 'central nervous system mesenchymal non-meningothelial tumor' SubClassOf 'Soft Tissue Neoplasm' http://purl.obolibrary.org/obo/MONDO_0037740 malignant central nervous system mesenchymal, non-meningothelial neoplasm 'malignant central nervous system mesenchymal, non-meningothelial neoplasm' SubClassOf 'malignant soft tissue neoplasm' 'malignant central nervous system mesenchymal, non-meningothelial neoplasm' SubClassOf 'central nervous system cancer' 'malignant central nervous system mesenchymal, non-meningothelial neoplasm' SubClassOf 'central nervous system mesenchymal non-meningothelial tumor' http://www.ebi.ac.uk/efo/EFO_0022039 ultraviolet radiation 'ultraviolet radiation' SubClassOf 'radiation exposure' http://www.ebi.ac.uk/efo/EFO_0022044 heat shock response 'heat shock response' SubClassOf 'response to stress' http://www.ebi.ac.uk/efo/EFO_0022075 fluid shear stress 'fluid shear stress' SubClassOf 'shear stressing' http://www.ebi.ac.uk/efo/EFO_0022074 starvation 'starvation' SubClassOf 'growth condition' http://www.ebi.ac.uk/efo/EFO_0022093 mitochondrial dna depletion syndrome 8b (mngie type) 'mitochondrial dna depletion syndrome 8b (mngie type)' SubClassOf 'mitochondrial DNA depletion syndrome' http://www.ebi.ac.uk/efo/EFO_0022418 EJ138 cell 'EJ138 cell' SubClassOf 'cancer cell line' 'EJ138 cell' SubClassOf 'bearer_of' some 'bladder transitional cell carcinoma' 'EJ138 cell' SubClassOf 'Homo sapiens cell line' 'EJ138 cell' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('urinary bladder' and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0022415 hTERT-HPNE cell 'hTERT-HPNE cell' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('pancreatic duct' and ('part of' some 'Homo sapiens')))) 'hTERT-HPNE cell' SubClassOf 'Homo sapiens cell line' http://www.ebi.ac.uk/efo/EFO_0022414 ALL-SIL cell 'ALL-SIL cell' SubClassOf 'derives_from' some ('T cell' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) 'ALL-SIL cell' SubClassOf 'lymphoma or leukaemia cell line' 'ALL-SIL cell' SubClassOf 'Homo sapiens cell line' 'ALL-SIL cell' SubClassOf 'bearer_of' some 'T-cell acute lymphoblastic leukemia' http://www.ebi.ac.uk/efo/EFO_0022417 RWP-1 'RWP-1' SubClassOf 'Homo sapiens cell line' 'RWP-1' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('pancreas' and ('part of' some 'Homo sapiens')))) 'RWP-1' SubClassOf 'cancer cell line' 'RWP-1' SubClassOf 'bearer_of' some 'pancreatic adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0022416 L-540 cell 'L-540 cell' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('bone marrow' and ('part of' some 'Homo sapiens')))) 'L-540 cell' SubClassOf 'Homo sapiens cell line' 'L-540 cell' SubClassOf 'bearer_of' some 'Hodgkins lymphoma' 'L-540 cell' SubClassOf 'lymphoma or leukaemia cell line' http://www.ebi.ac.uk/efo/EFO_0022411 BOSC-23 cell 'BOSC-23 cell' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('kidney' and ('part of' some 'Homo sapiens')))) 'BOSC-23 cell' SubClassOf 'kidney derived cell line' 'BOSC-23 cell' SubClassOf 'Homo sapiens cell line' http://www.ebi.ac.uk/efo/EFO_0022410 hTERT-HME1 cell 'hTERT-HME1 cell' SubClassOf 'Homo sapiens cell line' 'hTERT-HME1 cell' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('pancreatic duct' and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0022413 ARP-1 cell 'ARP-1 cell' SubClassOf 'Homo sapiens cell line' 'ARP-1 cell' SubClassOf 'derives_from' some ('plasma cell' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0022408 HBL-1 cell 'HBL-1 cell' SubClassOf 'derives_from' some ('B cell' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) 'HBL-1 cell' SubClassOf 'B cell derived cell line' 'HBL-1 cell' SubClassOf 'bearer_of' some 'diffuse large B-cell lymphoma' 'HBL-1 cell' SubClassOf 'lymphoma or leukaemia cell line' 'HBL-1 cell' SubClassOf 'Homo sapiens cell line' http://www.ebi.ac.uk/efo/EFO_0022407 AG11395 cell 'AG11395 cell' SubClassOf 'Homo sapiens cell line' 'AG11395 cell' SubClassOf 'bearer_of' some 'Werner syndrome' 'AG11395 cell' SubClassOf 'derives_from' some ('fibroblast' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) 'AG11395 cell' SubClassOf 'fibroblast derived cell line' http://www.ebi.ac.uk/efo/EFO_0022409 REH cell 'REH cell' SubClassOf 'Homo sapiens cell line' 'REH cell' SubClassOf 'derives_from' some ('precursor B cell' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) 'REH cell' SubClassOf 'lymphoma or leukaemia cell line' 'REH cell' SubClassOf 'B cell derived cell line' 'REH cell' SubClassOf 'bearer_of' some 'acute lymphoblastic leukemia' http://www.ebi.ac.uk/efo/EFO_0022404 KM-12C cell 'KM-12C cell' SubClassOf 'colorectal cancer cell line' 'KM-12C cell' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('colorectum' and ('part of' some 'Homo sapiens')))) 'KM-12C cell' SubClassOf 'Homo sapiens cell line' 'KM-12C cell' SubClassOf 'bearer_of' some 'colorectal carcinoma' http://www.ebi.ac.uk/efo/EFO_0022403 WS1 cell 'WS1 cell' SubClassOf 'fibroblast derived cell line' 'WS1 cell' SubClassOf 'Homo sapiens cell line' 'WS1 cell' SubClassOf 'derives_from' some ('fibroblast' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0022406 MNT-1 cell 'MNT-1 cell' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('skin of body' and ('part of' some 'Homo sapiens')))) 'MNT-1 cell' SubClassOf 'Homo sapiens cell line' 'MNT-1 cell' SubClassOf 'bearer_of' some 'diabetes mellitus' http://www.ebi.ac.uk/efo/EFO_0022405 HN-5 Cell 'HN-5 Cell' SubClassOf 'Homo sapiens cell line' 'HN-5 Cell' SubClassOf 'bearer_of' some 'squamous cell carcinoma' 'HN-5 Cell' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('tongue' and ('part of' some 'Homo sapiens')))) 'HN-5 Cell' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0022400 NT2-N cell 'NT2-N cell' SubClassOf 'Homo sapiens cell line' 'NT2-N cell' SubClassOf 'derives_from' some ('neural stem cell' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0022402 Saos-2 cell 'Saos-2 cell' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) 'Saos-2 cell' SubClassOf 'Homo sapiens cell line' http://www.ebi.ac.uk/efo/EFO_0022401 SK-N-BE(2) cell 'SK-N-BE(2) cell' SubClassOf 'derives_from' some ('neuroblast (sensu Vertebrata)' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) 'SK-N-BE(2) cell' SubClassOf 'neuroblastoma cell line' 'SK-N-BE(2) cell' SubClassOf 'Homo sapiens cell line' 'SK-N-BE(2) cell' SubClassOf 'bearer_of' some 'neuroblastoma' http://www.ebi.ac.uk/efo/EFO_0022437 LIM1215 cell 'LIM1215 cell' SubClassOf 'bearer_of' some 'colon carcinoma' 'LIM1215 cell' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('colon' and ('part of' some 'Homo sapiens')))) 'LIM1215 cell' SubClassOf 'Homo sapiens cell line' 'LIM1215 cell' SubClassOf 'colonic cancer cell line' 'LIM1215 cell' SubClassOf 'colorectal cancer cell line' http://www.ebi.ac.uk/efo/EFO_0022436 CL1-5 cell 'CL1-5 cell' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('lung' and ('part of' some 'Homo sapiens')))) 'CL1-5 cell' SubClassOf 'lung cancer cell line' 'CL1-5 cell' SubClassOf 'Homo sapiens cell line' 'CL1-5 cell' SubClassOf 'bearer_of' some 'lung adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0022439 ML-1 cell 'ML-1 cell' SubClassOf 'Homo sapiens cell line' 'ML-1 cell' SubClassOf 'cancer cell line' 'ML-1 cell' SubClassOf 'bearer_of' some 'acute myeloid leukemia' 'ML-1 cell' SubClassOf 'lymphoma or leukaemia cell line' 'ML-1 cell' 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_0022438 NCCIT cell 'NCCIT cell' SubClassOf 'Homo sapiens cell line' 'NCCIT cell' SubClassOf 'derives_from' some ('germ cell' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0022433 C8161.9 cell 'C8161.9 cell' SubClassOf 'melanoma cell line' 'C8161.9 cell' SubClassOf 'bearer_of' some 'metastatic melanoma' 'C8161.9 cell' SubClassOf 'Homo sapiens cell line' 'C8161.9 cell' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('abdominal wall' and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0022432 2fTGH cell '2fTGH cell' SubClassOf 'cancer cell line' '2fTGH cell' SubClassOf 'Homo sapiens cell line' '2fTGH cell' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) '2fTGH cell' SubClassOf 'bearer_of' some 'sarcoma' http://www.ebi.ac.uk/efo/EFO_0022435 CL1-0 cell 'CL1-0 cell' SubClassOf 'bearer_of' some 'lung adenocarcinoma' 'CL1-0 cell' SubClassOf 'lung cancer cell line' 'CL1-0 cell' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('lung' and ('part of' some 'Homo sapiens')))) 'CL1-0 cell' SubClassOf 'Homo sapiens cell line' http://www.ebi.ac.uk/efo/EFO_0022434 MEL-JUSO cell 'MEL-JUSO cell' SubClassOf 'melanoma cell line' 'MEL-JUSO cell' SubClassOf 'bearer_of' some 'melanoma' 'MEL-JUSO cell' SubClassOf 'Homo sapiens cell line' 'MEL-JUSO cell' 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_0022431 HOSE cell 'HOSE cell' SubClassOf 'bearer_of' some 'Burkitts lymphoma' 'HOSE cell' SubClassOf 'Burkitt lymphoma cell' 'HOSE cell' SubClassOf 'epithelial cell derived cell line' 'HOSE cell' SubClassOf 'Homo sapiens cell line' 'HOSE cell' SubClassOf 'derives_from' some ('epithelial cell' and ('part of' some ('ovary' and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0022430 RCC-4 cell 'RCC-4 cell' SubClassOf 'Homo sapiens cell line' 'RCC-4 cell' SubClassOf 'cancer cell line' 'RCC-4 cell' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) 'RCC-4 cell' SubClassOf 'bearer_of' some 'renal cell carcinoma' http://www.ebi.ac.uk/efo/EFO_0022429 MUM-2B cell 'MUM-2B cell' SubClassOf 'bearer_of' some 'Uveal Melanoma' 'MUM-2B cell' SubClassOf 'Homo sapiens cell line' 'MUM-2B cell' SubClassOf 'melanoma cell line' 'MUM-2B cell' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('eye' and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0022426 M-07E cell 'M-07E cell' SubClassOf 'cancer cell line' 'M-07E cell' SubClassOf 'bearer_of' some 'acute megakaryoblastic leukaemia' 'M-07E cell' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) 'M-07E cell' SubClassOf 'lymphoma or leukaemia cell line' 'M-07E cell' SubClassOf 'Homo sapiens cell line' http://www.ebi.ac.uk/efo/EFO_0022425 RHEK-1 cell 'RHEK-1 cell' SubClassOf 'derives_from' some ('keratinocyte' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) 'RHEK-1 cell' SubClassOf 'epithelial cell derived cell line' 'RHEK-1 cell' SubClassOf 'Homo sapiens cell line' http://www.ebi.ac.uk/efo/EFO_0022428 KOPN-8 cell 'KOPN-8 cell' SubClassOf 'bearer_of' some 'childhood acute lymphoblastic leukemia' 'KOPN-8 cell' SubClassOf 'derives_from' some ('B cell' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) 'KOPN-8 cell' SubClassOf 'Homo sapiens cell line' 'KOPN-8 cell' SubClassOf 'lymphoma or leukaemia cell line' 'KOPN-8 cell' SubClassOf 'B cell derived cell line' 'KOPN-8 cell' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0022427 TOV-21G cell 'TOV-21G cell' SubClassOf 'bearer_of' some 'ovarian cancer' 'TOV-21G cell' SubClassOf 'Homo sapiens cell line' 'TOV-21G cell' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('ovary' and ('part of' some 'Homo sapiens')))) 'TOV-21G cell' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0022422 Eca-109 cell 'Eca-109 cell' SubClassOf 'cancer cell line' 'Eca-109 cell' SubClassOf 'bearer_of' some 'esophageal squamous cell carcinoma' 'Eca-109 cell' SubClassOf 'Homo sapiens cell line' 'Eca-109 cell' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('esophagus' and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0022421 T1 (174 x CEM.T1) cell 'T1 (174 x CEM.T1) cell' SubClassOf 'Homo sapiens cell line' 'T1 (174 x CEM.T1) cell' SubClassOf 'lymphoblastoid cell line' 'T1 (174 x CEM.T1) cell' SubClassOf 'derives_from' some ('lymphoblast' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0022424 SK-MEL-37 cell 'SK-MEL-37 cell' SubClassOf 'bearer_of' some 'metastatic melanoma' 'SK-MEL-37 cell' SubClassOf 'Homo sapiens cell line' 'SK-MEL-37 cell' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('lymph node' and ('part of' some 'Homo sapiens')))) 'SK-MEL-37 cell' SubClassOf 'melanoma cell line' http://www.ebi.ac.uk/efo/EFO_0022423 YT cell 'YT cell' SubClassOf 'Homo sapiens cell line' 'YT cell' SubClassOf 'derives_from' some ('natural killer cell' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) 'YT cell' SubClassOf 'lymphoma or leukaemia cell line' 'YT cell' SubClassOf 'bearer_of' some 'acute lymphoblastic leukemia' http://www.ebi.ac.uk/efo/EFO_0022420 PEER cell 'PEER cell' SubClassOf 'bearer_of' some 'T-cell acute lymphoblastic leukemia' 'PEER cell' SubClassOf 'Homo sapiens cell line' 'PEER cell' SubClassOf 'lymphoma or leukaemia cell line' 'PEER cell' 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_0022459 CWR-22 cell 'CWR-22 cell' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('prostate gland' and ('part of' some 'Homo sapiens')))) 'CWR-22 cell' SubClassOf 'prostate cancer cell line' 'CWR-22 cell' SubClassOf 'Homo sapiens cell line' 'CWR-22 cell' SubClassOf 'bearer_of' some 'prostate cancer' 'CWR-22 cell' SubClassOf 'prostate derived cell line' http://www.ebi.ac.uk/efo/EFO_0022458 HPB-ALL cell 'HPB-ALL cell' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) 'HPB-ALL cell' SubClassOf 'lymphoma or leukaemia cell line' 'HPB-ALL cell' SubClassOf 'bearer_of' some 'acute lymphoblastic leukemia' 'HPB-ALL cell' SubClassOf 'Homo sapiens cell line' http://www.ebi.ac.uk/efo/EFO_0022455 BE3 'BE3' SubClassOf 'Homo sapiens cell line' 'BE3' SubClassOf 'cancer cell line' 'BE3' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('esophagus' and ('part of' some 'Homo sapiens')))) 'BE3' SubClassOf 'bearer_of' some 'Barrett adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0022454 3A(tPA-30-1) cell '3A(tPA-30-1) cell' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('placenta' and ('part of' some 'Homo sapiens')))) '3A(tPA-30-1) cell' SubClassOf 'Homo sapiens cell line' http://www.ebi.ac.uk/efo/EFO_0022457 VMRC-RCW cell 'VMRC-RCW cell' SubClassOf 'cancer cell line' 'VMRC-RCW cell' SubClassOf 'Homo sapiens cell line' 'VMRC-RCW cell' SubClassOf 'bearer_of' some 'renal carcinoma' 'VMRC-RCW cell' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('kidney' and ('part of' some 'Homo sapiens')))) 'VMRC-RCW cell' SubClassOf 'kidney derived cell line' http://www.ebi.ac.uk/efo/EFO_0022456 HMC-1-8 cell 'HMC-1-8 cell' SubClassOf 'cancer cell line' 'HMC-1-8 cell' SubClassOf 'bearer_of' some 'breast cancer' 'HMC-1-8 cell' 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_0022451 AT3ABR cell 'AT3ABR cell' SubClassOf 'bearer_of' some 'ataxia telangiectasia' 'AT3ABR cell' SubClassOf 'Homo sapiens cell line' 'AT3ABR cell' 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_0022450 HB1119 cell 'HB1119 cell' SubClassOf 'derives_from' some ('precursor B cell' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) 'HB1119 cell' SubClassOf 'lymphoma or leukaemia cell line' 'HB1119 cell' SubClassOf 'B cell derived cell line' 'HB1119 cell' SubClassOf 'bearer_of' some 'acute lymphoblastic leukemia' 'HB1119 cell' SubClassOf 'Homo sapiens cell line' http://www.ebi.ac.uk/efo/EFO_0022453 HS-68 cell 'HS-68 cell' SubClassOf 'fibroblast derived cell line' 'HS-68 cell' SubClassOf 'Homo sapiens cell line' 'HS-68 cell' SubClassOf 'derives_from' some ('fibroblast' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0022452 Mel-RM cell 'Mel-RM cell' SubClassOf 'bearer_of' some 'metastatic melanoma' 'Mel-RM cell' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('lymph node' and ('part of' some 'Homo sapiens')))) 'Mel-RM cell' SubClassOf 'melanoma cell line' 'Mel-RM cell' SubClassOf 'Homo sapiens cell line' http://www.ebi.ac.uk/efo/EFO_0022448 GripTite 293 MSR cell 'GripTite 293 MSR cell' SubClassOf 'kidney derived cell line' 'GripTite 293 MSR cell' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('kidney' and ('part of' some 'Homo sapiens')))) 'GripTite 293 MSR cell' SubClassOf 'Homo sapiens cell line' http://www.ebi.ac.uk/efo/EFO_0022447 U-343MG cell 'U-343MG cell' SubClassOf 'cancer cell line' 'U-343MG cell' SubClassOf 'Homo sapiens cell line' 'U-343MG cell' SubClassOf 'bearer_of' some 'glioblastoma' 'U-343MG cell' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('brain' and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0022449 RCC-10 cell 'RCC-10 cell' SubClassOf 'kidney derived cell line' 'RCC-10 cell' SubClassOf 'Homo sapiens cell line' 'RCC-10 cell' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('kidney' and ('part of' some 'Homo sapiens')))) 'RCC-10 cell' SubClassOf 'cancer cell line' 'RCC-10 cell' SubClassOf 'bearer_of' some 'renal cell carcinoma' http://www.ebi.ac.uk/efo/EFO_0022444 KP-L-RY 'KP-L-RY' SubClassOf 'cancer cell line' 'KP-L-RY' SubClassOf 'lymphoma or leukaemia cell line' 'KP-L-RY' SubClassOf 'bearer_of' some 'childhood acute lymphoblastic leukemia' 'KP-L-RY' SubClassOf 'Homo sapiens cell line' 'KP-L-RY' 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_0022443 553B-mel '553B-mel' SubClassOf 'Homo sapiens cell line' '553B-mel' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) '553B-mel' SubClassOf 'bearer_of' some 'metastatic melanoma' '553B-mel' SubClassOf 'melanoma cell line' http://www.ebi.ac.uk/efo/EFO_0022446 MOLM-14 cell 'MOLM-14 cell' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) 'MOLM-14 cell' SubClassOf 'Homo sapiens cell line' 'MOLM-14 cell' SubClassOf 'lymphoma or leukaemia cell line' 'MOLM-14 cell' SubClassOf 'bearer_of' some 'acute myeloid leukemia' 'MOLM-14 cell' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0022445 LCL2 'LCL2' SubClassOf 'Homo sapiens cell line' 'LCL2' 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_0022440 KGN cell 'KGN cell' SubClassOf 'epithelial cell derived cell line' 'KGN cell' SubClassOf 'Homo sapiens cell line' 'KGN cell' SubClassOf 'derives_from' some ('granulosa cell' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) 'KGN cell' SubClassOf 'bearer_of' some 'Ovarian Granulosa Cell Tumor' http://www.ebi.ac.uk/efo/EFO_0022442 PC-3M cell 'PC-3M cell' SubClassOf 'prostate derived cell line' 'PC-3M cell' SubClassOf 'prostate cancer cell line' 'PC-3M cell' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('prostate gland' and ('part of' some 'Homo sapiens')))) 'PC-3M cell' SubClassOf 'Homo sapiens cell line' 'PC-3M cell' SubClassOf 'bearer_of' some 'prostate cancer' http://www.ebi.ac.uk/efo/EFO_0022441 TGW cell 'TGW cell' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) 'TGW cell' SubClassOf 'Homo sapiens cell line' 'TGW cell' SubClassOf 'bearer_of' some 'Adrenal Gland Neuroblastoma' 'TGW cell' SubClassOf 'neuroblastoma cell line' http://www.ebi.ac.uk/efo/EFO_0022462 NOMO-1 cell 'NOMO-1 cell' SubClassOf 'bearer_of' some 'acute myeloid leukemia' 'NOMO-1 cell' SubClassOf 'lymphoma or leukaemia cell line' 'NOMO-1 cell' SubClassOf 'cancer cell line' 'NOMO-1 cell' SubClassOf 'Homo sapiens cell line' 'NOMO-1 cell' 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_0022461 HEK-293FT cell 'HEK-293FT cell' SubClassOf 'Homo sapiens cell line' 'HEK-293FT cell' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('kidney' and ('part of' some 'Homo sapiens')))) 'HEK-293FT cell' SubClassOf 'kidney derived cell line' http://www.ebi.ac.uk/efo/EFO_0022460 T47D-Y 'T47D-Y' SubClassOf 'bearer_of' some 'breast cancer' 'T47D-Y' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('pleural effusion' and ('part of' some 'Homo sapiens')))) 'T47D-Y' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0022399 AML-193 cell 'AML-193 cell' SubClassOf 'bearer_of' some 'acute monocytic leukemia' 'AML-193 cell' SubClassOf 'derives_from' some ('monoblast' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) 'AML-193 cell' SubClassOf 'cancer cell line' 'AML-193 cell' SubClassOf 'Homo sapiens cell line' 'AML-193 cell' SubClassOf 'lymphoma or leukaemia cell line' http://www.ebi.ac.uk/efo/EFO_0022398 TF1 cell 'TF1 cell' SubClassOf 'cancer cell line' 'TF1 cell' SubClassOf 'Homo sapiens cell line' 'TF1 cell' SubClassOf 'lymphoma or leukaemia cell line' 'TF1 cell' SubClassOf 'bearer_of' some 'acute erythroleukemia' 'TF1 cell' SubClassOf 'derives_from' some ('erythroid lineage cell' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0022392 GM05849 cell 'GM05849 cell' SubClassOf 'fibroblast derived cell line' 'GM05849 cell' SubClassOf 'Homo sapiens cell line' 'GM05849 cell' SubClassOf 'derives_from' some ('fibroblast' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) 'GM05849 cell' SubClassOf 'bearer_of' some 'ataxia telangiectasia' http://www.ebi.ac.uk/efo/EFO_0022391 GM02184 cell 'GM02184 cell' SubClassOf 'derives_from' some ('B cell' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) 'GM02184 cell' SubClassOf 'Homo sapiens cell line' 'GM02184 cell' SubClassOf 'B cell derived cell line' http://www.ebi.ac.uk/efo/EFO_0022394 HT-1080 cell 'HT-1080 cell' SubClassOf 'cancer cell line' 'HT-1080 cell' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('connective tissue' and ('part of' some 'Homo sapiens')))) 'HT-1080 cell' SubClassOf 'bearer_of' some 'fibrosarcoma' 'HT-1080 cell' SubClassOf 'Homo sapiens cell line' http://www.ebi.ac.uk/efo/EFO_0022393 MT2 cell 'MT2 cell' SubClassOf 'Homo sapiens cell line' 'MT2 cell' SubClassOf 'derives_from' some ('lymphocyte' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0022390 GM03318 cell 'GM03318 cell' SubClassOf 'Homo sapiens cell line' 'GM03318 cell' SubClassOf 'bearer_of' some 'Coffin-Lowry syndrome' 'GM03318 cell' SubClassOf 'derives_from' some ('fibroblast' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) 'GM03318 cell' SubClassOf 'fibroblast derived cell line' http://www.ebi.ac.uk/efo/EFO_0022389 ECV304 cell 'ECV304 cell' SubClassOf 'Homo sapiens cell line' 'ECV304 cell' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('umbilical cord' and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0022388 T-47D cell 'T-47D cell' SubClassOf 'epithelial cell derived cell line' 'T-47D cell' SubClassOf 'bearer_of' some 'breast ductal adenocarcinoma' 'T-47D cell' SubClassOf 'breast adenocarcinoma cell line' 'T-47D cell' SubClassOf 'Homo sapiens cell line' 'T-47D cell' SubClassOf 'derives_from' some ('mammary gland epithelial cell' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0022386 HEP-3B cell 'HEP-3B cell' SubClassOf 'Homo sapiens cell line' 'HEP-3B cell' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('liver' and ('part of' some 'Homo sapiens')))) 'HEP-3B cell' SubClassOf 'bearer_of' some 'hepatocellular carcinoma' 'HEP-3B cell' SubClassOf 'hepatoma cell line' http://www.ebi.ac.uk/efo/EFO_0022380 L-428 cell 'L-428 cell' SubClassOf 'bearer_of' some 'Hodgkins lymphoma' 'L-428 cell' SubClassOf 'Homo sapiens cell line' 'L-428 cell' SubClassOf 'lymphoma or leukaemia cell line' 'L-428 cell' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('pleura' and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0022359 SK-LC-5 'SK-LC-5' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('lung' and ('part of' some 'Homo sapiens')))) 'SK-LC-5' SubClassOf 'Homo sapiens cell line' 'SK-LC-5' SubClassOf 'lung cancer cell line' 'SK-LC-5' SubClassOf 'bearer_of' some 'lung adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0022356 MM1-144 'MM1-144' SubClassOf 'Homo sapiens cell line' 'MM1-144' SubClassOf 'derives_from' some ('B-lymphoblast' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) 'MM1-144' SubClassOf 'lymphoblastoid cell line' http://www.ebi.ac.uk/efo/EFO_0022355 MDA-Panc-28 cell 'MDA-Panc-28 cell' SubClassOf 'bearer_of' some 'pancreatic adenocarcinoma' 'MDA-Panc-28 cell' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('pancreas' and ('part of' some 'Homo sapiens')))) 'MDA-Panc-28 cell' SubClassOf 'Homo sapiens cell line' 'MDA-Panc-28 cell' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0022358 Fuji cells 'Fuji cells' SubClassOf 'bearer_of' some 'synovial sarcoma' 'Fuji cells' SubClassOf 'Homo sapiens cell line' 'Fuji cells' SubClassOf 'cancer cell line' 'Fuji cells' 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_0022357 NZG0906 'NZG0906' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('brain' and ('part of' some 'Homo sapiens')))) 'NZG0906' SubClassOf 'Homo sapiens cell line' 'NZG0906' SubClassOf 'bearer_of' some 'glioblastoma' 'NZG0906' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0022352 scc12f2 'scc12f2' SubClassOf 'Homo sapiens cell line' 'scc12f2' SubClassOf 'derives_from' some ('keratinocyte' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) 'scc12f2' SubClassOf 'epithelial cell derived cell line' http://www.ebi.ac.uk/efo/EFO_0022351 REN 'REN' SubClassOf 'Homo sapiens cell line' 'REN' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) 'REN' SubClassOf 'bearer_of' some 'mesothelial neoplasm' http://www.ebi.ac.uk/efo/EFO_0022354 HBC4 cell 'HBC4 cell' SubClassOf 'Homo sapiens cell line' 'HBC4 cell' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('breast' and ('part of' some 'Homo sapiens')))) 'HBC4 cell' SubClassOf 'cancer cell line' 'HBC4 cell' SubClassOf 'bearer_of' some 'breast cancer' http://www.ebi.ac.uk/efo/EFO_0022353 KMC-1 'KMC-1' SubClassOf 'derives_from' some ('cholangioma cell' and ('part of' some ('liver' and ('part of' some 'Homo sapiens')))) 'KMC-1' SubClassOf 'Homo sapiens cell line' http://www.ebi.ac.uk/efo/EFO_0022350 T5-1 'T5-1' SubClassOf 'derives_from' some ('B cell' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) 'T5-1' SubClassOf 'Homo sapiens cell line' 'T5-1' SubClassOf 'B cell derived cell line' http://www.ebi.ac.uk/efo/EFO_0022349 BL-60 cell 'BL-60 cell' SubClassOf 'Burkitt lymphoma cell' 'BL-60 cell' SubClassOf 'bearer_of' some 'Burkitts lymphoma' 'BL-60 cell' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) 'BL-60 cell' SubClassOf 'Homo sapiens cell line' http://www.ebi.ac.uk/efo/EFO_0022348 184A1 cell '184A1 cell' SubClassOf 'Homo sapiens cell line' '184A1 cell' SubClassOf 'derives_from' some ('epithelial cell' and ('part of' some ('mammary gland' and ('part of' some 'Homo sapiens')))) '184A1 cell' SubClassOf 'mammary gland cell line' '184A1 cell' SubClassOf 'epithelial cell derived cell line' http://www.ebi.ac.uk/efo/EFO_0022345 CUTLL1 cell 'CUTLL1 cell' SubClassOf 'bearer_of' some 'T-cell acute lymphoblastic leukemia' 'CUTLL1 cell' SubClassOf 'Homo sapiens cell line' 'CUTLL1 cell' SubClassOf 'lymphoma or leukaemia cell line' 'CUTLL1 cell' 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_0022344 Val cell 'Val cell' SubClassOf 'B cell derived cell line' 'Val cell' SubClassOf 'lymphoma or leukaemia cell line' 'Val cell' SubClassOf 'Homo sapiens cell line' 'Val cell' SubClassOf 'bearer_of' some 'B-cell acute lymphoblastic leukemia' 'Val cell' SubClassOf 'derives_from' some ('precursor B cell' and ('part of' some ('bone marrow' and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0022347 GM07166VA7 cell 'GM07166VA7 cell' SubClassOf 'derives_from' some ('fibroblast' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) 'GM07166VA7 cell' SubClassOf 'fibroblast derived cell line' 'GM07166VA7 cell' SubClassOf 'bearer_of' some 'Nijmegen breakage syndrome' 'GM07166VA7 cell' SubClassOf 'Homo sapiens cell line' http://www.ebi.ac.uk/efo/EFO_0022346 76N cell '76N cell' SubClassOf 'Homo sapiens cell line' '76N cell' SubClassOf 'mammary gland cell line' '76N cell' SubClassOf 'epithelial cell derived cell line' '76N cell' SubClassOf 'derives_from' some ('epithelial cell' and ('part of' some ('mammary gland' and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0022343 SH-EP1 cell 'SH-EP1 cell' SubClassOf 'bearer_of' some 'neuroblastoma' 'SH-EP1 cell' SubClassOf 'neuroblastoma cell line' 'SH-EP1 cell' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('bone marrow' and ('part of' some 'Homo sapiens')))) 'SH-EP1 cell' SubClassOf 'Homo sapiens cell line' http://www.ebi.ac.uk/efo/EFO_0022342 gist882 'gist882' SubClassOf 'bearer_of' some 'gastrointestinal stromal tumor' 'gist882' SubClassOf 'Homo sapiens cell line' 'gist882' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('digestive system' and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0022374 sum1315 'sum1315' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('breast' and ('part of' some 'Homo sapiens')))) 'sum1315' SubClassOf 'Homo sapiens cell line' 'sum1315' SubClassOf 'bearer_of' some 'invasive breast ductal carcinoma' 'sum1315' SubClassOf 'breast adenocarcinoma cell line' http://www.ebi.ac.uk/efo/EFO_0022373 gm9607 cell 'gm9607 cell' SubClassOf 'fibroblast derived cell line' 'gm9607 cell' SubClassOf 'Homo sapiens cell line' 'gm9607 cell' SubClassOf 'derives_from' some ('fibroblast' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) 'gm9607 cell' SubClassOf 'bearer_of' some 'ataxia telangiectasia' http://www.ebi.ac.uk/efo/EFO_0022376 b5-589 cell 'b5-589 cell' SubClassOf 'derives_from' some ('mammary gland epithelial cell' and ('part of' some ('organism part' and ('part of' some 'organism')))) 'b5-589 cell' SubClassOf 'epithelial cell derived cell line' http://www.ebi.ac.uk/efo/EFO_0022375 protection against nicotine dependence 'protection against nicotine dependence' SubClassOf 'biological_process' http://www.ebi.ac.uk/efo/EFO_0022370 WM1791c cell 'WM1791c cell' SubClassOf 'bearer_of' some 'metastatic melanoma' 'WM1791c cell' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('skin of body' and ('part of' some 'Homo sapiens')))) 'WM1791c cell' SubClassOf 'melanoma cell line' 'WM1791c cell' SubClassOf 'Homo sapiens cell line' http://www.ebi.ac.uk/efo/EFO_0022372 ut7 cell 'ut7 cell' SubClassOf 'cancer cell line' 'ut7 cell' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('bone marrow' and ('part of' some 'Homo sapiens')))) 'ut7 cell' SubClassOf 'lymphoma or leukaemia cell line' 'ut7 cell' SubClassOf 'Homo sapiens cell line' 'ut7 cell' SubClassOf 'bearer_of' some 'acute myeloid leukemia' http://www.ebi.ac.uk/efo/EFO_0022371 PMWK cell 'PMWK cell' SubClassOf 'melanoma cell line' 'PMWK cell' SubClassOf 'bearer_of' some 'melanoma' 'PMWK cell' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('skin of body' and ('part of' some 'Homo sapiens')))) 'PMWK cell' SubClassOf 'Homo sapiens cell line' http://www.ebi.ac.uk/efo/EFO_0022367 D04 cell 'D04 cell' SubClassOf 'Homo sapiens cell line' 'D04 cell' SubClassOf 'melanoma cell line' 'D04 cell' SubClassOf 'bearer_of' some 'melanoma' 'D04 cell' 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_0022366 WM852 cell 'WM852 cell' SubClassOf 'bearer_of' some 'metastatic melanoma' 'WM852 cell' SubClassOf 'melanoma cell line' 'WM852 cell' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('abdomen' and ('part of' some 'Homo sapiens')))) 'WM852 cell' SubClassOf 'Homo sapiens cell line' http://www.ebi.ac.uk/efo/EFO_0022369 MM485 cell 'MM485 cell' SubClassOf 'bearer_of' some 'metastatic melanoma' 'MM485 cell' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('lymph node' and ('part of' some 'Homo sapiens')))) 'MM485 cell' SubClassOf 'melanoma cell line' 'MM485 cell' SubClassOf 'Homo sapiens cell line' http://www.ebi.ac.uk/efo/EFO_0022368 MM415 cell 'MM415 cell' SubClassOf 'Homo sapiens cell line' 'MM415 cell' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('skin of body' and ('part of' some 'Homo sapiens')))) 'MM415 cell' SubClassOf 'melanoma cell line' 'MM415 cell' SubClassOf 'bearer_of' some 'melanoma' http://www.ebi.ac.uk/efo/EFO_0022363 SLB-1 cells 'SLB-1 cells' SubClassOf 'Homo sapiens cell line' 'SLB-1 cells' SubClassOf 'derives_from' some ('T cell' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0022362 Me67 cells 'Me67 cells' SubClassOf 'melanoma cell line' 'Me67 cells' SubClassOf 'Homo sapiens cell line' 'Me67 cells' SubClassOf 'bearer_of' some 'melanoma' 'Me67 cells' 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_0022365 NK3.3 cell 'NK3.3 cell' SubClassOf 'derives_from' some ('natural killer cell' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) 'NK3.3 cell' SubClassOf 'Homo sapiens cell line' http://www.ebi.ac.uk/efo/EFO_0022364 Mel202 cells 'Mel202 cells' SubClassOf 'Homo sapiens cell line' 'Mel202 cells' SubClassOf 'bearer_of' some 'Uveal Melanoma' 'Mel202 cells' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) 'Mel202 cells' SubClassOf 'melanoma cell line' http://www.ebi.ac.uk/efo/EFO_0022361 NA8-MEL cells 'NA8-MEL cells' SubClassOf 'melanoma cell line' 'NA8-MEL cells' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('skin of body' and ('part of' some 'Homo sapiens')))) 'NA8-MEL cells' SubClassOf 'bearer_of' some 'melanoma' 'NA8-MEL cells' SubClassOf 'Homo sapiens cell line' http://www.ebi.ac.uk/efo/EFO_0022360 WT47 cells 'WT47 cells' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('organism part' and ('part of' some 'Homo sapiens')))) 'WT47 cells' SubClassOf 'Homo sapiens cell line' http://purl.obolibrary.org/obo/PR_000010769 mucin-5B 'mucin-5B' SubClassOf 'protein' http://purl.obolibrary.org/obo/MONDO_0018574 intellectual disability-expressive aphasia-facial dysmorphism syndrome 'intellectual disability-expressive aphasia-facial dysmorphism syndrome' SubClassOf 'bearer_of' some 'rare' 'intellectual disability-expressive aphasia-facial dysmorphism syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0014408 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 'megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3' SubClassOf 'megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome' http://purl.obolibrary.org/obo/MONDO_0014943 mitochondrial DNA depletion syndrome 15 (hepatocerebral type) 'mitochondrial DNA depletion syndrome 15 (hepatocerebral type)' SubClassOf 'mitochondrial DNA depletion syndrome' http://purl.obolibrary.org/obo/CHEBI_72296 apixaban 'apixaban' SubClassOf 'organic heterocyclic compound' http://purl.obolibrary.org/obo/MONDO_0014858 intellectual disability, autosomal dominant 43 'intellectual disability, autosomal dominant 43' SubClassOf 'autosomal dominant non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014561 3-methylglutaconic aciduria, type VIIB '3-methylglutaconic aciduria, type VIIB' SubClassOf 'disease has feature' some 'metabolic disease' '3-methylglutaconic aciduria, type VIIB' SubClassOf '3-methylglutaconic aciduria' http://purl.obolibrary.org/obo/MONDO_0014620 myoclonic dystonia 26 'myoclonic dystonia 26' SubClassOf 'myoclonus-dystonia syndrome' http://purl.obolibrary.org/obo/MONDO_0014482 intellectual disability, autosomal dominant 29 'intellectual disability, autosomal dominant 29' SubClassOf 'autosomal dominant disease' 'intellectual disability, autosomal dominant 29' SubClassOf 'intellectual disability-expressive aphasia-facial dysmorphism syndrome' http://purl.obolibrary.org/obo/GO_0008202 steroid metabolic process 'steroid metabolic process' SubClassOf 'lipid metabolic process' 'steroid metabolic process' SubClassOf 'organic cyclic compound metabolic process' http://purl.obolibrary.org/obo/PR_000031343 mucin-5AC 'mucin-5AC' SubClassOf 'protein' http://purl.obolibrary.org/obo/MONDO_0030473 developmental and epileptic encephalopathy 99 'developmental and epileptic encephalopathy 99' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/PR_P30203 T-cell differentiation antigen CD6 (human) 'T-cell differentiation antigen CD6 (human)' SubClassOf 'protein' http://purl.obolibrary.org/obo/PR_000011439 neurturin 'neurturin' SubClassOf 'protein' http://purl.obolibrary.org/obo/PR_000001389 interleukin-33 'interleukin-33' SubClassOf 'protein' http://purl.obolibrary.org/obo/OBA_2050329 blood 13,16,19-Docosatrienoic acid amount 'blood 13,16,19-Docosatrienoic acid amount' SubClassOf 'amount' http://purl.obolibrary.org/obo/OBA_2050328 trait in response to apixaban 'trait in response to apixaban' SubClassOf 'response to anticoagulant' http://purl.obolibrary.org/obo/OBA_2050327 age of onset of colorectal cancer 'age of onset of colorectal cancer' SubClassOf 'inheres in' some 'colorectal cancer' 'age of onset of colorectal cancer' SubClassOf 'age of onset of cancer' 'age of onset of colorectal cancer' EquivalentTo 'Onset' and ('inheres in' some 'colorectal cancer') http://purl.obolibrary.org/obo/OBA_2050330 trait in response to teriparatide 'trait in response to teriparatide' SubClassOf 'response to xenobiotic stimulus' http://purl.obolibrary.org/obo/OBA_2050337 level of eukaryotic translation initiation factor 4E-binding protein 1 in blood plasma 'level of eukaryotic translation initiation factor 4E-binding protein 1 in blood plasma' SubClassOf 'amount' http://purl.obolibrary.org/obo/OBA_2050336 level of T-cell differentiation antigen CD6 in blood plasma 'level of T-cell differentiation antigen CD6 in blood plasma' SubClassOf 'amount' http://purl.obolibrary.org/obo/OBA_2050335 level of interleukin-33 in blood plasma 'level of interleukin-33 in blood plasma' SubClassOf 'amount' http://purl.obolibrary.org/obo/OBA_2050334 level of neurturin in blood plasma 'level of neurturin in blood plasma' SubClassOf 'amount' http://purl.obolibrary.org/obo/OBA_2050333 trait in response to oxaliplatin 'trait in response to oxaliplatin' SubClassOf 'response to platinum based chemotherapy' http://purl.obolibrary.org/obo/OBA_2050332 sputum mucin-5B amount 'sputum mucin-5B amount' SubClassOf 'amount' http://purl.obolibrary.org/obo/OBA_2050331 sputum mucin-5AC amount 'sputum mucin-5AC amount' SubClassOf 'amount' http://purl.obolibrary.org/obo/GO_0042359 vitamin D metabolic process 'vitamin D metabolic process' SubClassOf 'steroid metabolic process' http://purl.obolibrary.org/obo/HP_0000726 Dementia 'Dementia' SubClassOf 'inheres in' some 'brain' 'Dementia' SubClassOf 'Mental deterioration'