66 66 1 http://www.orpha.net/ORDO/Orphanet_77830 Rare genetic odontologic disease 'Rare genetic odontologic disease' SubClassOf 'genetic disease' http://www.orpha.net/ORDO/Orphanet_165652 Rare genetic gastroenterological disease 'Rare genetic gastroenterological disease' SubClassOf 'genetic disease' http://www.ebi.ac.uk/efo/EFO_0001064 Down syndrome 'Down syndrome' SubClassOf 'genetic disease' http://www.orpha.net/ORDO/Orphanet_3389 Tuberculosis 'Tuberculosis' SubClassOf 'reproductive system disease' http://www.ebi.ac.uk/efo/EFO_0000001 experimental factor 'experimental factor' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.geneontology.org/formats/oboInOwl#ObsoleteClass obsolete class 'obsolete class' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_271870 Rare genetic systemic or rheumatologic disease 'Rare genetic systemic or rheumatologic disease' SubClassOf 'genetic disease' http://www.orpha.net/ORDO/Orphanet_140162 Inherited cancer-predisposing syndrome 'Inherited cancer-predisposing syndrome' SubClassOf 'genetic disease' http://www.ebi.ac.uk/efo/EFO_0002546 abnormal glucose tolerance 'abnormal glucose tolerance' SubClassOf 'sign or symptom' 'abnormal glucose tolerance' SubClassOf 'Abnormal glucose homeostasis' http://www.orpha.net/ORDO/Orphanet_71859 Rare genetic neurological disorder 'Rare genetic neurological disorder' SubClassOf 'genetic disease' http://www.orpha.net/ORDO/Orphanet_2809 Familial recurrent peripheral facial palsy 'Familial recurrent peripheral facial palsy' SubClassOf http://www.ebi.ac.uk/efo/EFO_1000631 http://www.ebi.ac.uk/efo/EFO_0002945 familial cardiomyopathy 'familial cardiomyopathy' SubClassOf 'genetic disease' http://www.orpha.net/ORDO/Orphanet_98054 Rare genetic cardiac disease 'Rare genetic cardiac disease' SubClassOf 'genetic disease' http://www.orpha.net/ORDO/Orphanet_98056 Rare genetic renal disease 'Rare genetic renal disease' SubClassOf 'genetic disease' http://www.orpha.net/ORDO/Orphanet_68336 Rare genetic tumor 'Rare genetic tumor' SubClassOf 'genetic disease' http://www.orpha.net/ORDO/Orphanet_68335 Chromosomal anomaly 'Chromosomal anomaly' SubClassOf 'genetic disease' http://www.orpha.net/ORDO/Orphanet_158029 Sea-blue histiocytosis 'Sea-blue histiocytosis' SubClassOf 'genetic disease' http://www.ebi.ac.uk/efo/EFO_0003900 ciliopathy 'ciliopathy' SubClassOf 'genetic disease' http://www.ebi.ac.uk/efo/EFO_0003894 acne 'acne' SubClassOf 'skin disease' 'acne' SubClassOf http://www.ebi.ac.uk/efo/EFO_1000636 http://www.orpha.net/ORDO/Orphanet_68346 Rare genetic skin disease 'Rare genetic skin disease' SubClassOf 'genetic disease' http://www.orpha.net/ORDO/Orphanet_68367 Inborn errors of metabolism 'Inborn errors of metabolism' SubClassOf 'genetic disease' http://www.orpha.net/ORDO/Orphanet_158300 Rare genetic hematologic disease 'Rare genetic hematologic disease' SubClassOf 'genetic disease' http://www.ebi.ac.uk/efo/EFO_0003783 progressive bulbar palsy 'progressive bulbar palsy' SubClassOf http://www.ebi.ac.uk/efo/EFO_1000631 http://www.ebi.ac.uk/efo/EFO_0004832 optic disc size measurement 'optic disc size measurement' SubClassOf 'measurement' 'optic disc size measurement' SubClassOf http://www.ebi.ac.uk/efo/EFO_0006936 http://www.ebi.ac.uk/efo/EFO_0004830 caudate nucleus volume 'caudate nucleus volume' SubClassOf http://www.ebi.ac.uk/efo/EFO_0006930 http://www.ebi.ac.uk/efo/EFO_0000274 atopic eczema 'atopic eczema' SubClassOf http://www.ebi.ac.uk/efo/EFO_1000636 http://www.orpha.net/ORDO/Orphanet_98685 Oculomotor palsy 'Oculomotor palsy' SubClassOf http://www.ebi.ac.uk/efo/EFO_1000631 http://www.ebi.ac.uk/efo/EFO_0000508 genetic disorder 'genetic disorder' EquivalentTo 'genetic disease' http://www.ebi.ac.uk/efo/EFO_0004913 lentiform nucleus measurement 'lentiform nucleus measurement' SubClassOf http://www.ebi.ac.uk/efo/EFO_0006930 http://www.orpha.net/ORDO/Orphanet_233655 Rare genetic vascular disease 'Rare genetic vascular disease' SubClassOf 'genetic disease' http://www.ebi.ac.uk/efo/EFO_0000676 psoriasis 'psoriasis' SubClassOf 'skin disease' 'psoriasis' SubClassOf http://www.ebi.ac.uk/efo/EFO_1000636 http://www.ebi.ac.uk/efo/EFO_0004886 intra cranial volume 'intra cranial volume' SubClassOf 'measurement' 'intra cranial volume' SubClassOf http://www.ebi.ac.uk/efo/EFO_0006930 http://www.ebi.ac.uk/efo/EFO_0004868 volumetric brain MRI 'volumetric brain MRI' SubClassOf 'measurement' 'volumetric brain MRI' SubClassOf http://www.ebi.ac.uk/efo/EFO_0006930 http://www.ebi.ac.uk/efo/EFO_0005597 methylmalonic aciduria and homocystinuria type cblG 'methylmalonic aciduria and homocystinuria type cblG' SubClassOf 'genetic disease' http://www.orpha.net/ORDO/Orphanet_183530 Rare genetic developmental defect during embryogenesis 'Rare genetic developmental defect during embryogenesis' SubClassOf 'genetic disease' http://www.orpha.net/ORDO/Orphanet_183524 Rare genetic bone disease 'Rare genetic bone disease' SubClassOf 'genetic disease' http://www.ebi.ac.uk/efo/EFO_0005580 red color blindness 'red color blindness' SubClassOf 'genetic disease' http://www.ebi.ac.uk/efo/EFO_0005581 red-green color blindness 'red-green color blindness' SubClassOf 'genetic disease' http://www.ebi.ac.uk/efo/EFO_0005568 methylmalonic aciduria and homocystinuria type cblE 'methylmalonic aciduria and homocystinuria type cblE' SubClassOf 'genetic disease' http://www.ebi.ac.uk/efo/EFO_0006793 left inferior lateral ventricle volume measurement 'left inferior lateral ventricle volume measurement' SubClassOf 'brain measurement' 'left inferior lateral ventricle volume measurement' SubClassOf http://www.ebi.ac.uk/efo/EFO_0006930 http://www.orpha.net/ORDO/Orphanet_183731 Rare genetic gynecological and obstetrical diseases 'Rare genetic gynecological and obstetrical diseases' SubClassOf 'genetic disease' http://www.orpha.net/ORDO/Orphanet_183770 Rare genetic immune disease 'Rare genetic immune disease' SubClassOf 'genetic disease' http://www.ebi.ac.uk/efo/EFO_1000151 Cavernous Hemangioma 'Cavernous Hemangioma' SubClassOf 'neoplasm' 'Cavernous Hemangioma' SubClassOf http://www.ebi.ac.uk/efo/EFO_1000635 http://www.orpha.net/ORDO/Orphanet_168615 Hereditary persistence of alpha-fetoprotein 'Hereditary persistence of alpha-fetoprotein' SubClassOf 'genetic disease' http://www.orpha.net/ORDO/Orphanet_168612 Congenital deficiency in alpha-fetoprotein 'Congenital deficiency in alpha-fetoprotein' SubClassOf 'genetic disease' http://www.ebi.ac.uk/efo/EFO_1000031 genetic disease 'genetic disorder' EquivalentTo 'genetic disease' 'genetic disease' SubClassOf 'disease' 'genetic disease' SubClassOf 'obsolete class' http://www.ebi.ac.uk/efo/EFO_1000017 autosomal recessive disease 'autosomal recessive disease' SubClassOf 'genetic disease' http://www.ebi.ac.uk/efo/EFO_0004125 growth hormone-secreting pituitary adenoma 'growth hormone-secreting pituitary adenoma' SubClassOf 'genetic disease' http://www.ebi.ac.uk/efo/EFO_0005269 congenital heart malformation 'congenital heart malformation' SubClassOf 'genetic disease' http://www.ebi.ac.uk/efo/EFO_0005420 grey matter volume measurement 'grey matter volume measurement' SubClassOf 'brain measurement' 'grey matter volume measurement' SubClassOf http://www.ebi.ac.uk/efo/EFO_0006930 http://www.orpha.net/ORDO/Orphanet_254704 Genetic hyperferritinemia without iron overload 'Genetic hyperferritinemia without iron overload' SubClassOf 'genetic disease' http://www.orpha.net/ORDO/Orphanet_96210 Rare genetic deafness 'Rare genetic deafness' SubClassOf 'genetic disease' http://www.orpha.net/ORDO/Orphanet_275742 Genetic infertility 'Genetic infertility' SubClassOf 'genetic disease' http://www.orpha.net/ORDO/Orphanet_101435 Rare genetic eye disease 'Rare genetic eye disease' SubClassOf 'genetic disease' http://www.orpha.net/ORDO/Orphanet_275534 Myostatin-related muscle hypertrophy 'Myostatin-related muscle hypertrophy' SubClassOf 'genetic disease' http://www.ebi.ac.uk/efo/EFO_0005035 hippocampal volume 'hippocampal volume' SubClassOf 'brain measurement' 'hippocampal volume' SubClassOf http://www.ebi.ac.uk/efo/EFO_0006930 http://www.ebi.ac.uk/efo/EFO_0005089 whole-brain volume 'whole-brain volume' SubClassOf 'brain measurement' 'whole-brain volume' SubClassOf http://www.ebi.ac.uk/efo/EFO_0006930 http://www.ebi.ac.uk/efo/EFO_0005092 entorhinal cortical volume 'entorhinal cortical volume' SubClassOf 'brain measurement' 'entorhinal cortical volume' SubClassOf http://www.ebi.ac.uk/efo/EFO_0006930 http://www.orpha.net/ORDO/Orphanet_91378 Hereditary angioedema 'Hereditary angioedema' SubClassOf 'genetic disease' http://www.orpha.net/ORDO/Orphanet_100974 FRAXF syndrome 'FRAXF syndrome' SubClassOf 'genetic disease' http://www.ebi.ac.uk/efo/EFO_1000550 Splenic Marginal Zone Lymphoma 'Splenic Marginal Zone Lymphoma' SubClassOf 'lymphoma' 'Splenic Marginal Zone Lymphoma' SubClassOf http://www.ebi.ac.uk/efo/EFO_1000630 http://www.orpha.net/ORDO/Orphanet_156601 Rare genetic hepatic disease 'Rare genetic hepatic disease' SubClassOf 'genetic disease' http://www.orpha.net/ORDO/Orphanet_156610 Rare genetic respiratory disease 'Rare genetic respiratory disease' SubClassOf 'genetic disease' http://www.ebi.ac.uk/efo/EFO_0003105 spina bifida 'spina bifida' SubClassOf 'genetic disease' http://www.orpha.net/ORDO/Orphanet_156638 Rare genetic endocrine disease 'Rare genetic endocrine disease' SubClassOf 'genetic disease' http://www.orpha.net/ORDO/Orphanet_156619 Rare genetic urogenital disease 'Rare genetic urogenital disease' SubClassOf 'genetic disease' http://purl.obolibrary.org/obo/HP_0000407 Sensorineural hearing impairment 'Sensorineural hearing impairment' SubClassOf 'Hearing abnormality' http://purl.obolibrary.org/obo/HP_0100727 Histiocytosis 'Histiocytosis' SubClassOf 'abnormality of blood and blood-forming tissues' http://purl.obolibrary.org/obo/HP_0004840 Hypochromic microcytic anemia 'Hypochromic microcytic anemia' SubClassOf 'anemia' http://purl.obolibrary.org/obo/HP_0000364 Hearing abnormality 'Hearing abnormality' SubClassOf 'Abnormality of the ear' http://purl.obolibrary.org/obo/HP_0100529 Abnormality of phosphate homeostasis 'Abnormality of phosphate homeostasis' SubClassOf 'Abnormality of ion homeostasis' http://purl.obolibrary.org/obo/HP_0002148 Hypophosphatemia 'Hypophosphatemia' SubClassOf 'abnormality of blood and blood-forming tissues' 'Hypophosphatemia' SubClassOf 'Abnormality of phosphate homeostasis' http://www.ebi.ac.uk/efo/EFO_0006950 response to vincristine 'response to vincristine' SubClassOf 'response to antimicrotubule agent' http://www.ebi.ac.uk/efo/EFO_0006952 cytotoxicity measurement 'cytotoxicity measurement' SubClassOf 'measurement' http://www.ebi.ac.uk/efo/EFO_0006951 ototoxicity 'ototoxicity' SubClassOf 'Hearing abnormality' http://www.ebi.ac.uk/efo/EFO_0006941 grip strength measurement 'grip strength measurement' SubClassOf 'measurement' http://www.ebi.ac.uk/efo/EFO_0006940 optic cup area measurement 'optic cup area measurement' SubClassOf 'optic disc measurement' http://www.ebi.ac.uk/efo/EFO_0006943 blood pressure change measurement 'blood pressure change measurement' SubClassOf 'measurement' http://www.ebi.ac.uk/efo/EFO_0006942 facial pigmentation measurement 'facial pigmentation measurement' SubClassOf 'measurement' http://www.ebi.ac.uk/efo/EFO_0006945 diastolic blood pressure change measurement 'diastolic blood pressure change measurement' SubClassOf 'blood pressure change measurement' http://www.ebi.ac.uk/efo/EFO_0006944 systolic blood pressure change measurement 'systolic blood pressure change measurement' SubClassOf 'blood pressure change measurement' http://www.ebi.ac.uk/efo/EFO_0006947 red wine liking measurement 'red wine liking measurement' SubClassOf 'wine liking measurement' http://www.ebi.ac.uk/efo/EFO_0006946 behavioural disinhibition measurement 'behavioural disinhibition measurement' SubClassOf 'mental or behavioural disorder biomarker' http://www.ebi.ac.uk/efo/EFO_0006948 white wine liking measurement 'white wine liking measurement' SubClassOf 'wine liking measurement' http://www.ebi.ac.uk/efo/EFO_0006949 wine liking measurement 'wine liking measurement' SubClassOf 'measurement' http://www.ebi.ac.uk/efo/EFO_0006918 female fertility 'female fertility' SubClassOf 'phenotype' http://www.ebi.ac.uk/efo/EFO_0006917 spontaneous preterm birth 'spontaneous preterm birth' SubClassOf 'premature birth' http://www.ebi.ac.uk/efo/EFO_0006916 response to dalcetrapib 'response to dalcetrapib' SubClassOf 'response to drug' http://www.ebi.ac.uk/efo/EFO_0006919 cardiovascular event measurement 'cardiovascular event measurement' SubClassOf 'cardiovascular disease biomarker measurement' http://www.ebi.ac.uk/efo/EFO_0006935 thalamus volume 'thalamus volume' SubClassOf 'brain volume measurement' http://www.ebi.ac.uk/efo/EFO_0006936 optic disc measurement 'optic disc measurement' SubClassOf 'measurement' http://www.ebi.ac.uk/efo/EFO_0006933 pallidum volume 'pallidum volume' SubClassOf 'brain volume measurement' http://www.ebi.ac.uk/efo/EFO_0006934 amygdala volume 'amygdala volume' SubClassOf 'brain volume measurement' http://www.ebi.ac.uk/efo/EFO_0006931 nucleus accumbens volume 'nucleus accumbens volume' SubClassOf 'brain volume measurement' http://www.ebi.ac.uk/efo/EFO_0006932 putamen volume 'putamen volume' SubClassOf 'brain volume measurement' http://www.ebi.ac.uk/efo/EFO_0006930 brain volume measurement 'brain volume measurement' SubClassOf 'brain measurement' http://www.ebi.ac.uk/efo/EFO_0006939 cup-to-disc ratio measurement 'cup-to-disc ratio measurement' SubClassOf 'optic disc measurement' http://www.ebi.ac.uk/efo/EFO_0006938 optic rim area measurement 'optic rim area measurement' SubClassOf 'optic disc measurement' http://www.ebi.ac.uk/efo/EFO_0006937 optic disc area measurement 'optic disc area measurement' SubClassOf 'optic disc measurement' http://www.ebi.ac.uk/efo/EFO_0006922 delivery measurement 'delivery measurement' SubClassOf 'measurement' http://www.ebi.ac.uk/efo/EFO_0006923 fertility measurement 'fertility measurement' SubClassOf 'measurement' http://www.ebi.ac.uk/efo/EFO_0006924 household air pollution measurement 'household air pollution measurement' SubClassOf 'respiratory disease biomarker' http://www.ebi.ac.uk/efo/EFO_0006925 lipoprotein A measurement 'lipoprotein A measurement' SubClassOf 'lipoprotein measurement' http://www.ebi.ac.uk/efo/EFO_0006920 BNP measurement 'BNP measurement' SubClassOf 'protein measurement' 'BNP measurement' SubClassOf 'cardiovascular disease biomarker measurement' http://www.ebi.ac.uk/efo/EFO_0006921 birth measurement 'birth measurement' SubClassOf 'measurement' http://www.ebi.ac.uk/efo/EFO_0006927 severe aplastic anemia 'severe aplastic anemia' SubClassOf 'aplastic anemia' http://www.ebi.ac.uk/efo/EFO_0006926 acquired aplastic anemia 'acquired aplastic anemia' SubClassOf 'aplastic anemia' http://www.ebi.ac.uk/efo/EFO_0006929 IgG index 'IgG index' SubClassOf 'serum IgG measurement' 'IgG index' SubClassOf 'cerebrospinal fluid biomarker measurement' http://www.ebi.ac.uk/efo/EFO_0006928 motion sickness 'motion sickness' SubClassOf 'sign or symptom' http://purl.obolibrary.org/obo/HP_0005208 Secretory diarrhea 'Secretory diarrhea' SubClassOf 'diarrhea' http://purl.obolibrary.org/obo/HP_0006517 Alveolar proteinosis 'Alveolar proteinosis' SubClassOf 'abnormality of the lung' http://purl.obolibrary.org/obo/GO_0055062 phosphate ion homeostasis 'phosphate ion homeostasis' SubClassOf 'homeostatic process' http://www.ebi.ac.uk/efo/EFO_1000631 palsy 'palsy' SubClassOf 'nervous system disease' http://www.ebi.ac.uk/efo/EFO_1000632 cerebral palsy 'cerebral palsy' SubClassOf 'palsy' 'cerebral palsy' SubClassOf 'brain disease' http://www.ebi.ac.uk/efo/EFO_1000630 marginal zone B-cell lymphoma 'marginal zone B-cell lymphoma' SubClassOf 'non-Hodgkins lymphoma' http://www.ebi.ac.uk/efo/EFO_1000639 acquired metabolic disease 'acquired metabolic disease' SubClassOf 'metabolic disease' http://www.ebi.ac.uk/efo/EFO_1000638 Isaacs syndrome 'Isaacs syndrome' SubClassOf 'nervous system disease' http://www.ebi.ac.uk/efo/EFO_1000637 acute respiratory distress syndrome 'acute respiratory distress syndrome' SubClassOf 'respiratory system disease' http://www.ebi.ac.uk/efo/EFO_1000636 inflammatory skin disease 'inflammatory skin disease' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_1000635 hemangioma 'hemangioma' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_1000634 hamartoma 'hamartoma' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_1000633 adenomatous colon polyp 'adenomatous colon polyp' SubClassOf 'colonic neoplasm' 'adenomatous colon polyp' SubClassOf 'polyp' http://www.ebi.ac.uk/efo/EFO_1000640 basal ganglia cerebrovascular disease 'basal ganglia cerebrovascular disease' SubClassOf 'cerebrovascular disorder' http://www.ebi.ac.uk/efo/EFO_1000641 congenital nonspherocytic hemolytic anemia 'congenital nonspherocytic hemolytic anemia' SubClassOf 'Hemoglobinopathy' http://www.ebi.ac.uk/efo/EFO_1000642 hemochromatosis 'hemochromatosis' SubClassOf 'metabolic disease' http://www.ebi.ac.uk/efo/EFO_1000643 infantile epileptic encephalopathy 'infantile epileptic encephalopathy' SubClassOf 'epilepsy' http://www.ebi.ac.uk/efo/EFO_1000645 orthostatic intolerance 'orthostatic intolerance' SubClassOf 'nervous system disease' http://www.ebi.ac.uk/efo/EFO_1000644 newborn respiratory distress syndrome 'newborn respiratory distress syndrome' SubClassOf 'lung disease' http://www.ebi.ac.uk/efo/EFO_1000647 renal tubular transport disease 'renal tubular transport disease' SubClassOf 'kidney disease' http://www.ebi.ac.uk/efo/EFO_1000646 papillary carcinoma 'papillary carcinoma' SubClassOf 'epithelial neoplasm' http://www.ebi.ac.uk/efo/EFO_1000648 developmental dysplasia of the hip 'developmental dysplasia of the hip' SubClassOf 'bone development disease' http://purl.obolibrary.org/obo/HP_0000833 Glucose intolerance 'Glucose intolerance' SubClassOf 'abnormal glucose tolerance' http://www.w3.org/2002/07/owl#Thing