386 69 6 http://www.ebi.ac.uk/efo/EFO_0000373 congestive heart failure 'congestive heart failure' SubClassOf 'disease has major feature' some 'Congestive heart failure' 'congestive heart failure' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Congestive heart failure' http://purl.obolibrary.org/obo/MONDO_0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant 'Emery-Dreifuss muscular dystrophy 2, autosomal dominant' SubClassOf 'disease shares features of' some 'X-linked Emery-Dreifuss muscular dystrophy' 'Emery-Dreifuss muscular dystrophy 2, autosomal dominant' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'X-linked Emery-Dreifuss muscular dystrophy' http://www.ebi.ac.uk/efo/EFO_1000395 Nevus of Ito 'Nevus of Ito' SubClassOf 'disease shares features of' some 'Nevus of Ota' 'Nevus of Ito' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'Nevus of Ota' http://www.ebi.ac.uk/efo/EFO_1000309 Juvenile Myelomonocytic Leukemia 'Juvenile Myelomonocytic Leukemia' SubClassOf 'hereditary disorder of connective tissue' http://www.ebi.ac.uk/efo/EFO_1000014 acidosis 'acidosis' EquivalentTo 'metabolic disease' and ('disease has major feature' some 'Acidosis') 'acidosis' SubClassOf 'disease has major feature' some 'Acidosis' 'acidosis' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Acidosis' 'acidosis' EquivalentTo 'metabolic disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Acidosis') http://www.ebi.ac.uk/efo/EFO_1000032 granulosa cell tumor 'granulosa cell tumor' EquivalentTo 'neoplasm' and ('disease has location' some 'granulosa cell') 'granulosa cell tumor' SubClassOf 'disease has location' some 'granulosa cell' http://www.ebi.ac.uk/efo/EFO_0000650 whooping cough 'whooping cough' SubClassOf 'disease has major feature' some 'Whooping cough' 'whooping cough' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Whooping cough' http://www.ebi.ac.uk/efo/EFO_0000699 Sjogren syndrome 'Sjogren syndrome' SubClassOf 'disease shares features of' some 'IgG4-related dacryoadenitis and sialadenitis' 'Sjogren syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'IgG4-related dacryoadenitis and sialadenitis' http://purl.obolibrary.org/obo/MONDO_0011959 sweet syndrome 'sweet syndrome' SubClassOf 'skin disease' 'sweet syndrome' SubClassOf 'hereditary skin disorder' 'sweet syndrome' SubClassOf 'hereditary disorder of connective tissue' http://purl.obolibrary.org/obo/MONDO_0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome 'rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome' SubClassOf 'hereditary neurological disease' http://purl.obolibrary.org/obo/MONDO_0021313 eyelid cancer 'eyelid cancer' SubClassOf 'eyelid neoplasm' 'eyelid cancer' SubClassOf 'palpebral epidermal tumor' http://purl.obolibrary.org/obo/MONDO_0011817 coronary heart disease, susceptibility to, 1 'coronary heart disease, susceptibility to, 1' SubClassOf 'predisposes towards' some 'coronary artery disease' 'coronary heart disease, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'coronary artery disease' http://purl.obolibrary.org/obo/MONDO_0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 'sensory ataxic neuropathy, dysarthria, and ophthalmoparesis' SubClassOf 'metabolic epilepsy' http://purl.obolibrary.org/obo/MONDO_0011847 migraine without aura, susceptibility to, 4 'migraine without aura, susceptibility to, 4' SubClassOf 'predisposes towards' some 'migraine without aura' 'migraine without aura, susceptibility to, 4' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'migraine without aura' http://purl.obolibrary.org/obo/MONDO_0011841 biotin-responsive basal ganglia disease 'biotin-responsive basal ganglia disease' SubClassOf 'disease responds to' some 'biotin' 'biotin-responsive basal ganglia disease' EquivalentTo 'basal ganglia disease' and ('disease responds to' some 'biotin') 'biotin-responsive basal ganglia disease' EquivalentTo 'basal ganglia disease' and (http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'biotin') 'biotin-responsive basal ganglia disease' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'biotin' http://purl.obolibrary.org/obo/MONDO_0011875 epilepsy, idiopathic generalized, susceptibility to, 11 'epilepsy, idiopathic generalized, susceptibility to, 11' SubClassOf 'predisposes towards' some 'generalised epilepsy' http://purl.obolibrary.org/obo/MONDO_0011892 epilepsy, idiopathic generalized, susceptibility to, 9 'epilepsy, idiopathic generalized, susceptibility to, 9' SubClassOf 'predisposes towards' some 'generalised epilepsy' 'epilepsy, idiopathic generalized, susceptibility to, 9' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'generalised epilepsy' http://purl.obolibrary.org/obo/MONDO_0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome 'leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome' SubClassOf 'POLR3-related leukodystrophy' 'leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome' SubClassOf 'POLR3-related leukodystrophy' http://www.ebi.ac.uk/efo/EFO_0009266 refractory celiac disease 'refractory celiac disease' SubClassOf 'disease shares features of' some 'celiac disease' 'refractory celiac disease' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'celiac disease' http://purl.obolibrary.org/obo/MONDO_0800414 aplastic anemia, susceptibility to 'aplastic anemia, susceptibility to' SubClassOf 'predisposes towards' some 'aplastic anemia' 'aplastic anemia, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'aplastic anemia' http://purl.obolibrary.org/obo/MONDO_0800421 cardiomyopathy, familial hypertrophic, 4, susceptibility to 'cardiomyopathy, familial hypertrophic, 4, susceptibility to' SubClassOf 'predisposes towards' some 'hypertrophic cardiomyopathy' 'cardiomyopathy, familial hypertrophic, 4, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0800425 coronary artery disease, severe, susceptibility to 'coronary artery disease, severe, susceptibility to' SubClassOf 'predisposes towards' some 'coronary artery disease' 'coronary artery disease, severe, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'coronary artery disease' http://purl.obolibrary.org/obo/MONDO_0011772 B4GALT1-congenital disorder of glycosylation 'B4GALT1-congenital disorder of glycosylation' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'B4GALT1-congenital disorder of glycosylation' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0011775 nasopharyngeal carcinoma, susceptibility to, 1 'nasopharyngeal carcinoma, susceptibility to, 1' SubClassOf 'predisposes towards' some 'nasopharyngeal carcinoma' 'nasopharyngeal carcinoma, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'nasopharyngeal carcinoma' http://purl.obolibrary.org/obo/MONDO_0021187 hyperlipidemia 'hyperlipidemia' EquivalentTo 'metabolic disease' and ('disease has major feature' some 'Hyperlipidemia') 'hyperlipidemia' SubClassOf 'disease has major feature' some 'Hyperlipidemia' 'hyperlipidemia' EquivalentTo 'metabolic disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Hyperlipidemia') 'hyperlipidemia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Hyperlipidemia' http://www.ebi.ac.uk/efo/EFO_0000712 stroke 'stroke' SubClassOf 'disease has major feature' some 'Stroke' 'stroke' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Stroke' http://purl.obolibrary.org/obo/MONDO_0800453 juvenile absence epilepsy 'juvenile absence epilepsy' SubClassOf 'hereditary neurological disease' 'juvenile absence epilepsy' SubClassOf 'generalised epilepsy' http://purl.obolibrary.org/obo/MONDO_0800447 bleeding disorder, platelet-type, 13, susceptibility to 'bleeding disorder, platelet-type, 13, susceptibility to' SubClassOf 'predisposes towards' some 'bleeding diathesis due to thromboxane synthesis deficiency' 'bleeding disorder, platelet-type, 13, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'bleeding diathesis due to thromboxane synthesis deficiency' http://purl.obolibrary.org/obo/MONDO_0011604 spondylo-ocular syndrome 'spondylo-ocular syndrome' SubClassOf 'hereditary disorder of connective tissue' 'spondylo-ocular syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040022 http://www.ebi.ac.uk/efo/EFO_0009071 malignant hyperthermia, susceptibility to, 1 'malignant hyperthermia, susceptibility to, 1' SubClassOf 'predisposes towards' some 'malignant hyperthermia of anesthesia' 'malignant hyperthermia, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'malignant hyperthermia of anesthesia' http://www.ebi.ac.uk/efo/EFO_0009082 Pilomatrixoma 'Pilomatrixoma' SubClassOf 'hereditary skin disorder' http://purl.obolibrary.org/obo/MONDO_0011650 atrioventricular septal defect, susceptibility to, 2 'atrioventricular septal defect, susceptibility to, 2' SubClassOf 'predisposes towards' some 'familial atrioventricular septal defect' 'atrioventricular septal defect, susceptibility to, 2' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'familial atrioventricular septal defect' http://purl.obolibrary.org/obo/MONDO_0011676 PHACE syndrome 'PHACE syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'PHACE syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0011684 vitiligo-associated multiple autoimmune disease susceptibility 1 'vitiligo-associated multiple autoimmune disease susceptibility 1' SubClassOf 'predisposes towards' some 'type II hypersensitivity reaction disease' 'vitiligo-associated multiple autoimmune disease susceptibility 1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'type II hypersensitivity reaction disease' http://purl.obolibrary.org/obo/MONDO_0011685 polysubstance abuse, susceptibility to 'polysubstance abuse, susceptibility to' SubClassOf 'predisposes towards' some 'drug dependence' 'polysubstance abuse, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'drug dependence' http://purl.obolibrary.org/obo/MONDO_0021024 malaria, susceptibility to 'malaria, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'malaria') 'malaria, susceptibility to' SubClassOf 'predisposes towards' some 'malaria' 'malaria, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'malaria' 'malaria, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'malaria') http://purl.obolibrary.org/obo/MONDO_0035651 choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 'choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome' SubClassOf 'genetic disorder' 'choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0060622 neurodevelopmental disorder with severe motor impairment and absent language 'neurodevelopmental disorder with severe motor impairment and absent language' SubClassOf 'complex neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0060627 glycosylphosphatidylinositol biosynthesis defect 15 'glycosylphosphatidylinositol biosynthesis defect 15' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'glycosylphosphatidylinositol biosynthesis defect 15' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0021058 neoplastic syndrome 'neoplastic syndrome' SubClassOf 'disease has major feature' some 'neoplasm' 'neoplastic syndrome' EquivalentTo 'syndromic disease' and ('disease has major feature' some 'neoplasm') 'neoplastic syndrome' EquivalentTo 'syndromic disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'neoplasm') 'neoplastic syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'neoplasm' http://purl.obolibrary.org/obo/MONDO_0021081 anti-NMDA receptor encephalitis 'anti-NMDA receptor encephalitis' SubClassOf 'antibody mediated epilepsy' http://purl.obolibrary.org/obo/MONDO_0800174 encephalitis, acute, infection-induced, susceptibility to 'encephalitis, acute, infection-induced, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'encephalopathy, acute, infection-induced') 'encephalitis, acute, infection-induced, susceptibility to' SubClassOf 'predisposes towards' some 'encephalopathy, acute, infection-induced' 'encephalitis, acute, infection-induced, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'encephalopathy, acute, infection-induced') 'encephalitis, acute, infection-induced, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'encephalopathy, acute, infection-induced' http://www.ebi.ac.uk/efo/EFO_0009430 neuralgia 'neuralgia' EquivalentTo 'peripheral neuropathy' and ('disease has major feature' some 'Pain') 'neuralgia' EquivalentTo 'peripheral neuropathy' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Pain') http://purl.obolibrary.org/obo/MONDO_0800129 autoinflammatory disease, X-linked 'autoinflammatory disease, X-linked' SubClassOf 'hereditary disorder of connective tissue' http://purl.obolibrary.org/obo/MONDO_0800153 urea cycle disorder or inherited hyperammonemia 'urea cycle disorder or inherited hyperammonemia' SubClassOf 'disease has major feature' some 'Hyperammonemia' 'urea cycle disorder or inherited hyperammonemia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Hyperammonemia' http://www.ebi.ac.uk/efo/EFO_0010492 glycocholic acid measurement 'glycocholic acid measurement' SubClassOf 'lipid measurement' 'glycocholic acid measurement' SubClassOf 'bile acid measurement' http://purl.obolibrary.org/obo/MONDO_0011506 familial infantile myoclonic epilepsy 'familial infantile myoclonic epilepsy' SubClassOf 'hereditary neurological disease' http://purl.obolibrary.org/obo/MONDO_0011535 split hand-foot malformation 4 'split hand-foot malformation 4' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040001 http://purl.obolibrary.org/obo/MONDO_0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma 'arrhythmogenic cardiomyopathy with wooly hair and keratoderma' SubClassOf 'disease has major feature' some 'Woolly hair' 'arrhythmogenic cardiomyopathy with wooly hair and keratoderma' SubClassOf 'disease has major feature' some 'Dilated cardiomyopathy' 'arrhythmogenic cardiomyopathy with wooly hair and keratoderma' SubClassOf 'disease has major feature' some 'Palmoplantar keratoderma' 'arrhythmogenic cardiomyopathy with wooly hair and keratoderma' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Woolly hair' 'arrhythmogenic cardiomyopathy with wooly hair and keratoderma' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Dilated cardiomyopathy' 'arrhythmogenic cardiomyopathy with wooly hair and keratoderma' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0011428 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 'ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040001 http://purl.obolibrary.org/obo/MONDO_0011450 breast-ovarian cancer, familial, susceptibility to, 1 'breast-ovarian cancer, familial, susceptibility to, 1' SubClassOf 'predisposes towards' some 'hereditary breast ovarian cancer syndrome' 'breast-ovarian cancer, familial, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'hereditary breast ovarian cancer syndrome' http://purl.obolibrary.org/obo/MONDO_0016120 myotonic syndrome 'myotonic syndrome' SubClassOf 'disease has major feature' some 'Myotonia' 'myotonic syndrome' EquivalentTo 'syndromic disease' and ('disease has major feature' some 'Myotonia') 'myotonic syndrome' EquivalentTo 'syndromic disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Myotonia') 'myotonic syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Myotonia' http://purl.obolibrary.org/obo/MONDO_0016022 early myoclonic encephalopathy 'early myoclonic encephalopathy' SubClassOf 'mitochondrial substrate carrier disorder' 'early myoclonic encephalopathy' SubClassOf 'hereditary neurological disease' http://purl.obolibrary.org/obo/MONDO_0016025 myoclonic-astatic epilepsy 'myoclonic-astatic epilepsy' SubClassOf 'hereditary neurological disease' 'myoclonic-astatic epilepsy' SubClassOf 'inborn disorder of amino acid transport' http://www.ebi.ac.uk/efo/EFO_1000800 alcohol withdrawal delirium 'alcohol withdrawal delirium' SubClassOf 'disease has major feature' some 'Delirium' 'alcohol withdrawal delirium' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Delirium' http://www.ebi.ac.uk/efo/EFO_1000648 developmental dysplasia of the hip 'developmental dysplasia of the hip' SubClassOf 'disease has major feature' some 'Abnormal hip joint morphology' 'developmental dysplasia of the hip' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Abnormal hip joint morphology' http://www.ebi.ac.uk/efo/EFO_1000670 anhidrosis 'anhidrosis' SubClassOf 'disease has major feature' some 'Anhidrosis' 'anhidrosis' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Anhidrosis' http://www.ebi.ac.uk/efo/EFO_1000727 lipodystrophy 'lipodystrophy' SubClassOf 'disease has major feature' some 'Lipodystrophy' 'lipodystrophy' EquivalentTo 'disease' and ('disease has major feature' some 'Lipodystrophy') 'lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Lipodystrophy' 'lipodystrophy' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Lipodystrophy') http://www.ebi.ac.uk/efo/EFO_1000737 multiple symmetric lipomatosis 'multiple symmetric lipomatosis' SubClassOf 'hereditary disorder of connective tissue' http://purl.obolibrary.org/obo/FBbt_00007049 head visceral muscle primordium 'head visceral muscle primordium' SubClassOf 'visceral muscle primordium' 'head visceral muscle primordium' SubClassOf 'Drosophila developmental tissue' http://www.ebi.ac.uk/efo/EFO_0000205 stage I endometrioid carcinoma 'stage I endometrioid carcinoma' SubClassOf 'part of progression of disease' some 'endometrial carcinoma' 'stage I endometrioid carcinoma' SubClassOf http://purl.obolibrary.org/obo/mondo#part_of_progression_of_disease some 'endometrial carcinoma' http://www.ebi.ac.uk/efo/EFO_0000206 stage II endometrioid carcinoma 'stage II endometrioid carcinoma' SubClassOf 'part of progression of disease' some 'endometrial carcinoma' 'stage II endometrioid carcinoma' SubClassOf http://purl.obolibrary.org/obo/mondo#part_of_progression_of_disease some 'endometrial carcinoma' http://www.ebi.ac.uk/efo/EFO_1000592 Thyroid Gland Oncocytic Follicular Carcinoma 'Thyroid Gland Oncocytic Follicular Carcinoma' SubClassOf 'adenocarcinoma' 'Thyroid Gland Oncocytic Follicular Carcinoma' SubClassOf 'adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0016987 neuroacanthocytosis 'neuroacanthocytosis' SubClassOf 'disease has major feature' some 'dementia' 'neuroacanthocytosis' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'dementia' http://purl.obolibrary.org/obo/MONDO_0002203 constipation disorder 'constipation disorder' SubClassOf 'disease has major feature' some 'Constipation' 'constipation disorder' EquivalentTo 'disease' and ('disease has major feature' some 'Constipation') 'constipation disorder' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Constipation' 'constipation disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Constipation') http://purl.obolibrary.org/obo/MONDO_0002017 olivopontocerebellar atrophy 'olivopontocerebellar atrophy' SubClassOf 'disease shares features of' some 'cerebellar ataxia' 'olivopontocerebellar atrophy' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0100488 CDH1-related diffuse gastric and lobular breast cancer syndrome 'CDH1-related diffuse gastric and lobular breast cancer syndrome' SubClassOf 'predisposes towards' some 'hereditary gastric cancer' 'CDH1-related diffuse gastric and lobular breast cancer syndrome' SubClassOf 'predisposes towards' some 'lobular breast carcinoma' 'CDH1-related diffuse gastric and lobular breast cancer syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'lobular breast carcinoma' 'CDH1-related diffuse gastric and lobular breast cancer syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'hereditary gastric cancer' http://purl.obolibrary.org/obo/MONDO_0100555 IgA nephropathy, susceptibility to 'IgA nephropathy, susceptibility to' SubClassOf 'predisposes towards' some 'IGA glomerulonephritis' 'IgA nephropathy, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'IGA glomerulonephritis') 'IgA nephropathy, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'IGA glomerulonephritis') 'IgA nephropathy, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'IGA glomerulonephritis' http://purl.obolibrary.org/obo/MONDO_0100519 epilepsy, idiopathic generalized, susceptibility to, 17 'epilepsy, idiopathic generalized, susceptibility to, 17' SubClassOf 'predisposes towards' some 'generalised epilepsy' 'epilepsy, idiopathic generalized, susceptibility to, 17' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'generalised epilepsy' http://purl.obolibrary.org/obo/MONDO_1040030 GBA1-related Parkinson disease, susceptibility 'GBA1-related Parkinson disease, susceptibility' SubClassOf 'predisposes towards' some 'Parkinson disease' 'GBA1-related Parkinson disease, susceptibility' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Parkinson disease' http://purl.obolibrary.org/obo/MONDO_0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency 'hyperphenylalaninemia due to tetrahydrobiopterin deficiency' SubClassOf 'disease shares features of' some 'phenylketonuria' 'hyperphenylalaninemia due to tetrahydrobiopterin deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'phenylketonuria' http://purl.obolibrary.org/obo/MONDO_0016571 macrocephaly-short stature-paraplegia syndrome 'macrocephaly-short stature-paraplegia syndrome' SubClassOf 'central nervous system malformation' 'macrocephaly-short stature-paraplegia syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'macrocephaly-short stature-paraplegia syndrome' SubClassOf 'syndromic disease' 'macrocephaly-short stature-paraplegia syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' 'macrocephaly-short stature-paraplegia syndrome' SubClassOf 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0100440 Asperger syndrome, susceptibility to 'Asperger syndrome, susceptibility to' SubClassOf 'predisposes towards' some 'Asperger syndrome' 'Asperger syndrome, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'Asperger syndrome') 'Asperger syndrome, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Asperger syndrome') 'Asperger syndrome, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Asperger syndrome' http://purl.obolibrary.org/obo/MONDO_0100232 psoriatic arthritis, susceptibility to 'psoriatic arthritis, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'psoriatic arthritis') 'psoriatic arthritis, susceptibility to' SubClassOf 'predisposes towards' some 'psoriatic arthritis' 'psoriatic arthritis, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'psoriatic arthritis') 'psoriatic arthritis, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'psoriatic arthritis' http://purl.obolibrary.org/obo/MONDO_0100242 glioma susceptibility 'glioma susceptibility' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'malignant glioma') 'glioma susceptibility' SubClassOf 'predisposes towards' some 'malignant glioma' 'glioma susceptibility' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'malignant glioma' 'glioma susceptibility' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'malignant glioma') http://purl.obolibrary.org/obo/MONDO_0100308 atactic disorder 'atactic disorder' SubClassOf 'disease has major feature' some 'Ataxia' 'atactic disorder' EquivalentTo 'nervous system disease' and ('disease has major feature' some 'Ataxia') 'atactic disorder' EquivalentTo 'nervous system disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Ataxia') 'atactic disorder' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Ataxia' http://purl.obolibrary.org/obo/MONDO_0100195 X-linked intellectual disability with hypopituitarism 'X-linked intellectual disability with hypopituitarism' EquivalentTo 'syndromic intellectual disability' and ('disease has major feature' some 'hypopituitarism') 'X-linked intellectual disability with hypopituitarism' SubClassOf 'disease has major feature' some 'hypopituitarism' 'X-linked intellectual disability with hypopituitarism' EquivalentTo 'syndromic intellectual disability' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'hypopituitarism') 'X-linked intellectual disability with hypopituitarism' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'hypopituitarism' http://purl.obolibrary.org/obo/MONDO_0100173 leukemia, acute myeloid, susceptibility to 'leukemia, acute myeloid, susceptibility to' SubClassOf 'predisposes towards' some 'acute myeloid leukemia' 'leukemia, acute myeloid, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100178 dermatitis, atopic, susceptibility to 'dermatitis, atopic, susceptibility to' SubClassOf 'predisposes towards' some 'atopic eczema' 'dermatitis, atopic, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'atopic eczema' http://purl.obolibrary.org/obo/MONDO_0100182 schizophrenia, susceptibility to 'schizophrenia, susceptibility to' SubClassOf 'predisposes towards' some 'schizophrenia' 'schizophrenia, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'schizophrenia') 'schizophrenia, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'schizophrenia' 'schizophrenia, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'schizophrenia') http://purl.obolibrary.org/obo/MONDO_0016354 xeroderma pigmentosum-Cockayne syndrome complex 'xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'disease shares features of' some 'xeroderma pigmentosum' 'xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'disease shares features of' some 'Cockayne syndrome' 'xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'Cockayne syndrome' 'xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'xeroderma pigmentosum' http://purl.obolibrary.org/obo/MONDO_0016364 Joubert syndrome with ocular defect 'Joubert syndrome with ocular defect' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Joubert syndrome with ocular defect' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0100167 pulmonary disease, chronic obstructive, susceptibility to 'pulmonary disease, chronic obstructive, susceptibility to' SubClassOf 'predisposes towards' some 'chronic obstructive pulmonary disease' 'pulmonary disease, chronic obstructive, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'chronic obstructive pulmonary disease' http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency 'mitochondrial complex I deficiency' SubClassOf 'disease has basis in dysfunction of' some 'obsolete mitochondrial respiratory chain complex I' 'mitochondrial complex I deficiency' EquivalentTo 'disease' and ('disease has basis in dysfunction of' some 'obsolete mitochondrial respiratory chain complex I') http://purl.obolibrary.org/obo/MONDO_0100135 Dravet syndrome 'Dravet syndrome' SubClassOf 'disease shares features of' some 'developmental and epileptic encephalopathy, 6' 'Dravet syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'developmental and epileptic encephalopathy, 6' http://purl.obolibrary.org/obo/MONDO_0100110 adenovirus renal infection 'adenovirus renal infection' SubClassOf 'disease has major feature' some 'Severe adenovirus infection' 'adenovirus renal infection' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Severe adenovirus infection' http://purl.obolibrary.org/obo/MONDO_0100121 SCN4A-related myopathy, autosomal recessive 'SCN4A-related myopathy, autosomal recessive' SubClassOf 'disease has major feature' some 'Skeletal muscle atrophy' 'SCN4A-related myopathy, autosomal recessive' SubClassOf 'disease has major feature' some 'Decreased fetal movement' 'SCN4A-related myopathy, autosomal recessive' SubClassOf 'disease has major feature' some 'craniosynostosis' 'SCN4A-related myopathy, autosomal recessive' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Decreased fetal movement' 'SCN4A-related myopathy, autosomal recessive' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'craniosynostosis' 'SCN4A-related myopathy, autosomal recessive' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Skeletal muscle atrophy' http://www.ebi.ac.uk/efo/EFO_0005917 generalised epilepsy 'generalised epilepsy' SubClassOf 'idiopathic disease' 'generalised epilepsy' SubClassOf 'epilepsy' 'generalised epilepsy' SubClassOf 'hereditary neurological disease' 'generalised epilepsy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100576 http://purl.obolibrary.org/obo/MONDO_0100216 DICER1-related tumor predisposition 'DICER1-related tumor predisposition' SubClassOf 'predisposes towards' some 'cancer' 'DICER1-related tumor predisposition' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'cancer' http://purl.obolibrary.org/obo/HP_0010885 Avascular necrosis 'Avascular necrosis' SubClassOf 'Abnormality of the skeletal system' 'Avascular necrosis' SubClassOf 'Phenotypic abnormality' http://purl.obolibrary.org/obo/MONDO_0100079 developmental and epileptic encephalopathy, 6 'developmental and epileptic encephalopathy, 6' SubClassOf 'disease shares features of' some 'Dravet syndrome' 'developmental and epileptic encephalopathy, 6' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'Dravet syndrome' http://purl.obolibrary.org/obo/MONDO_0100052 acetazolamide-responsive hereditary episodic ataxia 'acetazolamide-responsive hereditary episodic ataxia' SubClassOf 'disease responds to' some 'acetazolamide' 'acetazolamide-responsive hereditary episodic ataxia' EquivalentTo 'hereditary episodic ataxia' and ('disease responds to' some 'acetazolamide') 'acetazolamide-responsive hereditary episodic ataxia' EquivalentTo 'hereditary episodic ataxia' and (http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'acetazolamide') 'acetazolamide-responsive hereditary episodic ataxia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'acetazolamide' http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy 'developmental and epileptic encephalopathy' SubClassOf 'generalised epilepsy' http://purl.obolibrary.org/obo/MONDO_0100046 exfoliation syndrome, susceptibility to 'exfoliation syndrome, susceptibility to' SubClassOf 'predisposes towards' some 'exfoliation syndrome' 'exfoliation syndrome, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'exfoliation syndrome' http://purl.obolibrary.org/obo/MONDO_0100048 graft-versus-host disease, susceptibility to 'graft-versus-host disease, susceptibility to' SubClassOf 'predisposes towards' some 'graft versus host disease' 'graft-versus-host disease, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'graft versus host disease' http://purl.obolibrary.org/obo/MONDO_0100028 immune epilepsy 'immune epilepsy' SubClassOf 'epilepsy' http://purl.obolibrary.org/obo/MONDO_0100029 antibody mediated epilepsy 'antibody mediated epilepsy' SubClassOf 'immune epilepsy' http://www.ebi.ac.uk/efo/EFO_0005772 neurodegenerative disease 'neurodegenerative disease' SubClassOf 'disease has major feature' some 'Cerebral degeneration' 'neurodegenerative disease' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Cerebral degeneration' http://purl.obolibrary.org/obo/HP_0009763 Limb pain 'Limb pain' SubClassOf 'Abnormality of the skeletal system' http://www.ebi.ac.uk/efo/EFO_0020050 bile acid measurement 'bile acid measurement' SubClassOf 'sterol measurement' 'bile acid measurement' SubClassOf 'lipid measurement' http://purl.obolibrary.org/obo/MONDO_0012648 isobutyryl-CoA dehydrogenase deficiency 'isobutyryl-CoA dehydrogenase deficiency' SubClassOf 'disease has major feature' some 'Dilated cardiomyopathy' 'isobutyryl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Dilated cardiomyopathy' http://www.ebi.ac.uk/efo/EFO_0009532 autonomic nervous system disease 'autonomic nervous system disease' SubClassOf 'disease has major feature' some 'Abnormal autonomic nervous system physiology' 'autonomic nervous system disease' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Abnormal autonomic nervous system physiology' http://www.ebi.ac.uk/efo/EFO_0009550 headache disorder 'headache disorder' SubClassOf 'disease has major feature' some 'Headache' 'headache disorder' EquivalentTo 'neurological pain disorder' and ('disease has major feature' some 'Headache') 'headache disorder' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Headache' 'headache disorder' EquivalentTo 'neurological pain disorder' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Headache') http://purl.obolibrary.org/obo/MONDO_0012570 body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency 'body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency' SubClassOf 'disease shares features of' some 'pseudoxanthoma elasticum (inherited or acquired)' 'body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'pseudoxanthoma elasticum (inherited or acquired)' http://purl.obolibrary.org/obo/MONDO_0012585 coronary heart disease, susceptibility to, 7 'coronary heart disease, susceptibility to, 7' SubClassOf 'predisposes towards' some 'coronary artery disease' 'coronary heart disease, susceptibility to, 7' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'coronary artery disease' http://purl.obolibrary.org/obo/MONDO_0012584 systemic lupus erythematosus, susceptibility to, 9 'systemic lupus erythematosus, susceptibility to, 9' SubClassOf 'predisposes towards' some 'systemic lupus erythematosus' 'systemic lupus erythematosus, susceptibility to, 9' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'systemic lupus erythematosus' http://purl.obolibrary.org/obo/MONDO_0012593 brain-lung-thyroid syndrome 'brain-lung-thyroid syndrome' SubClassOf 'endocrine system disease' 'brain-lung-thyroid syndrome' SubClassOf 'syndromic disease' 'brain-lung-thyroid syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100520 http://purl.obolibrary.org/obo/MONDO_0012407 pyridoxal phosphate-responsive seizures 'pyridoxal phosphate-responsive seizures' SubClassOf 'disease responds to' some 'pyridoxal 5'-phosphate' 'pyridoxal phosphate-responsive seizures' EquivalentTo 'metabolic epilepsy' and ('disease responds to' some 'pyridoxal 5'-phosphate') 'pyridoxal phosphate-responsive seizures' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'pyridoxal 5'-phosphate' 'pyridoxal phosphate-responsive seizures' EquivalentTo 'metabolic epilepsy' and (http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'pyridoxal 5'-phosphate') http://purl.obolibrary.org/obo/MONDO_0012402 opioid dependence, susceptibility to, 1 'opioid dependence, susceptibility to, 1' SubClassOf 'predisposes towards' some 'opioid dependence' 'opioid dependence, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'opioid dependence' http://purl.obolibrary.org/obo/MONDO_0012435 3-methylglutaconic aciduria type 5 '3-methylglutaconic aciduria type 5' SubClassOf 'disease has major feature' some 'Dilated cardiomyopathy' '3-methylglutaconic aciduria type 5' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0012456 congenital primary aphakia 'congenital primary aphakia' SubClassOf 'disease has major feature' some 'Congenital aphakia' 'congenital primary aphakia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Congenital aphakia' http://purl.obolibrary.org/obo/MONDO_0012466 Parkinson disease 13, autosomal dominant, susceptibility to 'Parkinson disease 13, autosomal dominant, susceptibility to' SubClassOf 'predisposes towards' some 'Parkinson disease' 'Parkinson disease 13, autosomal dominant, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Parkinson disease' http://purl.obolibrary.org/obo/MONDO_0012488 hepatitis B virus, susceptibility to 'hepatitis B virus, susceptibility to' SubClassOf 'predisposes towards' some 'genetic disorder' 'hepatitis B virus, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012482 West Nile virus, susceptibility to 'West Nile virus, susceptibility to' SubClassOf 'predisposes towards' some 'West Nile encephalitis' 'West Nile virus, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'West Nile encephalitis' http://purl.obolibrary.org/obo/MONDO_0012292 hepatitis C virus, susceptibility to 'hepatitis C virus, susceptibility to' SubClassOf 'predisposes towards' some 'hepatitis C virus infection' 'hepatitis C virus, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'hepatitis C virus infection' http://purl.obolibrary.org/obo/MONDO_0012308 Joubert syndrome with renal defect 'Joubert syndrome with renal defect' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Joubert syndrome with renal defect' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0012341 celiac disease, susceptibility to, 3 'celiac disease, susceptibility to, 3' SubClassOf 'predisposes towards' some 'celiac disease' 'celiac disease, susceptibility to, 3' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'celiac disease' http://purl.obolibrary.org/obo/MONDO_0012141 orofacial cleft 6, susceptibility to 'orofacial cleft 6, susceptibility to' SubClassOf 'predisposes towards' some 'orofacial cleft' 'orofacial cleft 6, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'orofacial cleft' http://purl.obolibrary.org/obo/MONDO_0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation 'susceptibility to respiratory infections associated with CD8alpha chain mutation' SubClassOf 'predisposes towards' some 'respiratory tract infectious disorder' 'susceptibility to respiratory infections associated with CD8alpha chain mutation' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'respiratory tract infectious disorder' http://purl.obolibrary.org/obo/MONDO_0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome 'permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0012243 B-cell immunodeficiency, distal limb anomalies, and urogenital malformations 'B-cell immunodeficiency, distal limb anomalies, and urogenital malformations' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0012057 legionnaire disease, susceptibility to 'legionnaire disease, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'Legionnaires' disease') 'legionnaire disease, susceptibility to' SubClassOf 'predisposes towards' some 'Legionnaires' disease' 'legionnaire disease, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Legionnaires' disease' 'legionnaire disease, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Legionnaires' disease') http://purl.obolibrary.org/obo/MONDO_0012081 15q11q13 microduplication syndrome '15q11q13 microduplication syndrome' SubClassOf 'predisposes towards' some 'autism' '15q11q13 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'autism' http://purl.obolibrary.org/obo/MONDO_0012132 colorectal cancer, susceptibility to, 1 'colorectal cancer, susceptibility to, 1' SubClassOf 'predisposes towards' some 'colorectal cancer' 'colorectal cancer, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'colorectal cancer' http://purl.obolibrary.org/obo/MONDO_0012009 coronary heart disease, susceptibility to, 2 'coronary heart disease, susceptibility to, 2' SubClassOf 'predisposes towards' some 'coronary artery disease' 'coronary heart disease, susceptibility to, 2' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'coronary artery disease' http://purl.obolibrary.org/obo/MONDO_0002527 keratoacanthoma 'keratoacanthoma' SubClassOf 'disease shares features of' some 'squamous cell carcinoma' 'keratoacanthoma' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'squamous cell carcinoma' http://purl.obolibrary.org/obo/HP_0005616 Accelerated skeletal maturation 'Accelerated skeletal maturation' SubClassOf 'Abnormality of the skeletal system' 'Accelerated skeletal maturation' SubClassOf 'Phenotypic abnormality' http://purl.obolibrary.org/obo/MONDO_0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome 'ankyloblepharon-ectodermal defects-cleft lip/palate syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040001 http://purl.obolibrary.org/obo/MONDO_0007072 ADULT syndrome 'ADULT syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040001 http://purl.obolibrary.org/obo/HP_0040165 Periostitis 'Periostitis' SubClassOf 'Abnormal bone structure' 'Periostitis' SubClassOf 'Abnormal skeletal morphology' http://purl.obolibrary.org/obo/MONDO_0012933 breast-ovarian cancer, familial, susceptibility to, 2 'breast-ovarian cancer, familial, susceptibility to, 2' SubClassOf 'predisposes towards' some 'hereditary breast ovarian cancer syndrome' 'breast-ovarian cancer, familial, susceptibility to, 2' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'hereditary breast ovarian cancer syndrome' http://purl.obolibrary.org/obo/MONDO_0012953 colorectal cancer, susceptibility to, 10 'colorectal cancer, susceptibility to, 10' SubClassOf 'predisposes towards' some 'colorectal cancer' 'colorectal cancer, susceptibility to, 10' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'colorectal cancer' http://purl.obolibrary.org/obo/MONDO_0957560 hearing loss, noise-induced, susceptibility to 'hearing loss, noise-induced, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'noise-induced hearing loss') 'hearing loss, noise-induced, susceptibility to' SubClassOf 'predisposes towards' some 'noise-induced hearing loss' 'hearing loss, noise-induced, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'noise-induced hearing loss') 'hearing loss, noise-induced, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'noise-induced hearing loss' http://purl.obolibrary.org/obo/MONDO_0022394 cervical intraepithelial neoplasia 'cervical intraepithelial neoplasia' SubClassOf 'disease has major feature' some 'Cervical polyp' 'cervical intraepithelial neoplasia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Cervical polyp' http://purl.obolibrary.org/obo/MONDO_0012820 colorectal cancer, susceptibility to, 3 'colorectal cancer, susceptibility to, 3' SubClassOf 'predisposes towards' some 'colorectal cancer' 'colorectal cancer, susceptibility to, 3' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'colorectal cancer' http://purl.obolibrary.org/obo/MONDO_0012843 epilepsy, childhood absence, susceptibility to, 5 'epilepsy, childhood absence, susceptibility to, 5' SubClassOf 'predisposes towards' some 'childhood absence epilepsy' 'epilepsy, childhood absence, susceptibility to, 5' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'childhood absence epilepsy' http://purl.obolibrary.org/obo/MONDO_0012893 osteoarthritis susceptibility 5 'osteoarthritis susceptibility 5' SubClassOf 'predisposes towards' some 'osteoarthritis' 'osteoarthritis susceptibility 5' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'osteoarthritis' http://purl.obolibrary.org/obo/MONDO_0012720 Krabbe disease due to saposin A deficiency 'Krabbe disease due to saposin A deficiency' SubClassOf 'disease shares features of' some 'Krabbe disease' 'Krabbe disease due to saposin A deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'Krabbe disease' http://purl.obolibrary.org/obo/MONDO_0012756 proximal 16p11.2 microdeletion syndrome 'proximal 16p11.2 microdeletion syndrome' SubClassOf 'predisposes towards' some 'autism' 'proximal 16p11.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'autism' http://purl.obolibrary.org/obo/HP_0001387 Joint stiffness 'Joint stiffness' SubClassOf 'Abnormality of the skeletal system' 'Joint stiffness' SubClassOf 'Phenotypic abnormality' http://purl.obolibrary.org/obo/MONDO_0017454 triphalangeal thumb-polysyndactyly syndrome 'triphalangeal thumb-polysyndactyly syndrome' SubClassOf 'disease has major feature' some 'polydactyly of a triphalangeal thumb' 'triphalangeal thumb-polysyndactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'polydactyly of a triphalangeal thumb' 'triphalangeal thumb-polysyndactyly syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007966 susceptibility to uveal melanoma 'susceptibility to uveal melanoma' SubClassOf 'predisposes towards' some 'Uveal Melanoma' 'susceptibility to uveal melanoma' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'Uveal Melanoma') 'susceptibility to uveal melanoma' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Uveal Melanoma') 'susceptibility to uveal melanoma' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Uveal Melanoma' http://purl.obolibrary.org/obo/MONDO_0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria 'tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria' SubClassOf 'disease responds to' some 'sapropterin' 'tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'sapropterin' http://purl.obolibrary.org/obo/MONDO_0007839 Aase-Smith syndrome 'Aase-Smith syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Aase-Smith syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0007845 Kaposi sarcoma, susceptibility to 'Kaposi sarcoma, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'Kaposi's sarcoma') 'Kaposi sarcoma, susceptibility to' SubClassOf 'predisposes towards' some 'Kaposi's sarcoma' 'Kaposi sarcoma, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Kaposi's sarcoma' 'Kaposi sarcoma, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Kaposi's sarcoma') http://purl.obolibrary.org/obo/MONDO_0032814 microangiopathy and leukoencephalopathy, pontine, autosomal dominant 'microangiopathy and leukoencephalopathy, pontine, autosomal dominant' SubClassOf 'COL4A1-related disorder' http://purl.obolibrary.org/obo/MONDO_0017214 vitamin B12-responsive methylmalonic acidemia 'vitamin B12-responsive methylmalonic acidemia' EquivalentTo 'methylmalonic acidemia' and ('disease responds to' some 'cobalamin') 'vitamin B12-responsive methylmalonic acidemia' SubClassOf 'disease responds to' some 'cobalamin' 'vitamin B12-responsive methylmalonic acidemia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'cobalamin' 'vitamin B12-responsive methylmalonic acidemia' EquivalentTo 'methylmalonic acidemia' and (http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'cobalamin') http://purl.obolibrary.org/obo/MONDO_0007704 osteoarthritis susceptibility 2 'osteoarthritis susceptibility 2' SubClassOf 'predisposes towards' some 'osteoarthritis' 'osteoarthritis susceptibility 2' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'osteoarthritis' http://purl.obolibrary.org/obo/MONDO_0017054 thiamine-responsive maple syrup urine disease 'thiamine-responsive maple syrup urine disease' EquivalentTo 'maple syrup urine disease' and ('disease responds to' some 'vitamin B1') 'thiamine-responsive maple syrup urine disease' SubClassOf 'disease responds to' some 'vitamin B1' 'thiamine-responsive maple syrup urine disease' EquivalentTo 'maple syrup urine disease' and (http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'vitamin B1') 'thiamine-responsive maple syrup urine disease' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'vitamin B1' http://purl.obolibrary.org/obo/HP_0001649 Tachycardia 'Tachycardia' SubClassOf 'Ventricular arrhythmia' 'Tachycardia' SubClassOf 'Arrhythmia' http://purl.obolibrary.org/obo/MONDO_0007558 benign occipital epilepsy 'benign occipital epilepsy' SubClassOf 'epilepsy syndrome' 'benign occipital epilepsy' SubClassOf 'childhood-onset epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0007573 erythroleukemia, familial, susceptibility to 'erythroleukemia, familial, susceptibility to' SubClassOf 'predisposes towards' some 'acute erythroleukemia' 'erythroleukemia, familial, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'acute erythroleukemia' http://www.ebi.ac.uk/efo/EFO_0003778 psoriatic arthritis 'psoriatic arthritis' EquivalentTo 'arthritis' and ('disease arises from feature' some 'Autoimmunity') and ('disease has major feature' some 'psoriasis') 'psoriatic arthritis' SubClassOf 'disease has major feature' some 'psoriasis' 'psoriatic arthritis' EquivalentTo 'arthritis' and ('disease arises from feature' some 'Autoimmunity') and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'psoriasis') 'psoriatic arthritis' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'psoriasis' http://purl.obolibrary.org/obo/MONDO_0007401 craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome 'craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0007410 isolated cryptophthalmia 'isolated cryptophthalmia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007462 multiple sclerosis, susceptibility to 'multiple sclerosis, susceptibility to' SubClassOf 'predisposes towards' some 'multiple sclerosis' 'multiple sclerosis, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'multiple sclerosis') 'multiple sclerosis, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'multiple sclerosis' 'multiple sclerosis, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'multiple sclerosis') http://purl.obolibrary.org/obo/MONDO_0007495 dystonia 5 'dystonia 5' SubClassOf 'disease responds to' some 'L-dopa' 'dystonia 5' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'L-dopa' http://purl.obolibrary.org/obo/MONDO_0007350 coloboma, ocular, autosomal dominant 'coloboma, ocular, autosomal dominant' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013032 epilepsy, idiopathic generalized, susceptibility to, 8 'epilepsy, idiopathic generalized, susceptibility to, 8' SubClassOf 'predisposes towards' some 'generalised epilepsy' 'epilepsy, idiopathic generalized, susceptibility to, 8' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'generalised epilepsy' http://purl.obolibrary.org/obo/MONDO_0013083 neuroblastoma, susceptibility to, 3 'neuroblastoma, susceptibility to, 3' SubClassOf 'predisposes towards' some 'neuroblastoma' 'neuroblastoma, susceptibility to, 3' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'neuroblastoma' http://purl.obolibrary.org/obo/MONDO_0013088 follicular lymphoma, susceptibility to, 1 'follicular lymphoma, susceptibility to, 1' SubClassOf 'predisposes towards' some 'follicular lymphoma' 'follicular lymphoma, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'follicular lymphoma' http://www.ebi.ac.uk/efo/EFO_0004152 chorea 'chorea' SubClassOf 'disease has major feature' some 'Chorea' 'chorea' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Chorea' http://purl.obolibrary.org/obo/MONDO_0027353 autosomal recessive dyskeratosis congenita 4 'autosomal recessive dyskeratosis congenita 4' SubClassOf 'disease shares features of' some 'dyskeratosis congenita, autosomal dominant 2' 'autosomal recessive dyskeratosis congenita 4' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'dyskeratosis congenita, autosomal dominant 2' http://purl.obolibrary.org/obo/MONDO_0017901 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency 'autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' SubClassOf 'predisposes towards' some 'mycobacterial infectious disease' 'autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'mycobacterial infectious disease' http://purl.obolibrary.org/obo/MONDO_0017902 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency 'autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' SubClassOf 'predisposes towards' some 'mycobacterial infectious disease' 'autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'mycobacterial infectious disease' http://purl.obolibrary.org/obo/MONDO_0017746 atypical Rett syndrome 'atypical Rett syndrome' SubClassOf 'disease shares features of' some 'Rett syndrome' 'atypical Rett syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'Rett syndrome' http://www.ebi.ac.uk/efo/EFO_0004280 movement disorder 'movement disorder' EquivalentTo 'disease' and ('disease has major feature' some 'Abnormality of movement') 'movement disorder' SubClassOf 'disease has major feature' some 'Abnormality of movement' 'movement disorder' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Abnormality of movement' 'movement disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Abnormality of movement') http://purl.obolibrary.org/obo/MONDO_0017571 Proteus-like syndrome 'Proteus-like syndrome' SubClassOf 'disease shares features of' some 'Proteus syndrome' 'Proteus-like syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'Proteus syndrome' http://purl.obolibrary.org/obo/MONDO_0013920 herpes simplex encephalitis, susceptibility to, 3 'herpes simplex encephalitis, susceptibility to, 3' SubClassOf 'predisposes towards' some 'Mendelian encephalopathy' 'herpes simplex encephalitis, susceptibility to, 3' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Mendelian encephalopathy' http://purl.obolibrary.org/obo/MONDO_0013921 herpes simplex encephalitis, susceptibility to, 4 'herpes simplex encephalitis, susceptibility to, 4' SubClassOf 'predisposes towards' some 'Mendelian encephalopathy' 'herpes simplex encephalitis, susceptibility to, 4' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Mendelian encephalopathy' http://purl.obolibrary.org/obo/MONDO_0013855 influenza, severe, susceptibility to 'influenza, severe, susceptibility to' SubClassOf 'predisposes towards' some 'influenza' 'influenza, severe, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'influenza' http://purl.obolibrary.org/obo/MONDO_0013876 basal cell carcinoma, susceptibility to, 7 'basal cell carcinoma, susceptibility to, 7' SubClassOf 'predisposes towards' some 'skin basal cell carcinoma' 'basal cell carcinoma, susceptibility to, 7' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'skin basal cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0859295 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties 'neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties' SubClassOf 'Neurodevelopmental disorder' 'neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859286 neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures 'neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures' SubClassOf 'Neurodevelopmental disorder' 'neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859274 neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies 'neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies' SubClassOf 'Neurodevelopmental disorder' 'neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859211 neurodevelopmental disorder with hyperkinetic movements and dyskinesia 'neurodevelopmental disorder with hyperkinetic movements and dyskinesia' SubClassOf 'Neurodevelopmental disorder' 'neurodevelopmental disorder with hyperkinetic movements and dyskinesia' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859201 neurodevelopmental disorder with impaired language and ataxia and with or without seizures 'neurodevelopmental disorder with impaired language and ataxia and with or without seizures' SubClassOf 'Neurodevelopmental disorder' 'neurodevelopmental disorder with impaired language and ataxia and with or without seizures' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0013713 dengue virus, susceptibility to 'dengue virus, susceptibility to' SubClassOf 'predisposes towards' some 'dengue disease' 'dengue virus, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'dengue disease') 'dengue virus, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'dengue disease' 'dengue virus, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'dengue disease') http://purl.obolibrary.org/obo/MONDO_0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 'hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0037748 hyperlipoproteinemia 'hyperlipoproteinemia' SubClassOf 'disease has major feature' some 'Hyperlipoproteinemia' 'hyperlipoproteinemia' EquivalentTo 'metabolic disease' and ('disease has major feature' some 'Hyperlipoproteinemia') 'hyperlipoproteinemia' EquivalentTo 'metabolic disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Hyperlipoproteinemia') 'hyperlipoproteinemia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Hyperlipoproteinemia' http://www.ebi.ac.uk/efo/EFO_0008506 hyperparathyroidism 'hyperparathyroidism' SubClassOf 'disease has major feature' some 'Hyperparathyroidism' 'hyperparathyroidism' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Hyperparathyroidism' http://purl.obolibrary.org/obo/MONDO_0859345 branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome 'branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome' SubClassOf 'genetic disorder' 'branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0859304 neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction 'neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction' SubClassOf 'neurodegenerative disease' 'neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0013685 pancreatic cancer, susceptibility to, 4 'pancreatic cancer, susceptibility to, 4' SubClassOf 'predisposes towards' some 'Malignant Pancreatic Neoplasm' 'pancreatic cancer, susceptibility to, 4' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Malignant Pancreatic Neoplasm' http://purl.obolibrary.org/obo/MONDO_0013562 aspergillosis, susceptibility to 'aspergillosis, susceptibility to' SubClassOf 'predisposes towards' some 'aspergillosis' 'aspergillosis, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'aspergillosis') 'aspergillosis, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'aspergillosis') 'aspergillosis, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'aspergillosis' http://purl.obolibrary.org/obo/MONDO_0013568 sick sinus syndrome 3, susceptibility to 'sick sinus syndrome 3, susceptibility to' SubClassOf 'predisposes towards' some 'sick sinus syndrome' 'sick sinus syndrome 3, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'sick sinus syndrome' http://purl.obolibrary.org/obo/MONDO_0013409 age related macular degeneration 5 'age related macular degeneration 5' SubClassOf 'predisposes towards' some 'age-related macular degeneration' 'age related macular degeneration 5' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'age-related macular degeneration' http://purl.obolibrary.org/obo/HP_0006467 Limited shoulder movement 'Limited shoulder movement' SubClassOf 'Abnormality of the skeletal system' 'Limited shoulder movement' SubClassOf 'Phenotypic abnormality' http://purl.obolibrary.org/obo/MONDO_0013296 myeloid neoplasm associated with FGFR1 rearrangement 'myeloid neoplasm associated with FGFR1 rearrangement' SubClassOf 'myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2' 'myeloid neoplasm associated with FGFR1 rearrangement' SubClassOf 'myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2' http://purl.obolibrary.org/obo/MONDO_0013311 ectodermal dysplasia-syndactyly syndrome 'ectodermal dysplasia-syndactyly syndrome' SubClassOf 'disease has major feature' some 'Syndactyly' 'ectodermal dysplasia-syndactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Syndactyly' http://purl.obolibrary.org/obo/MONDO_0013340 Parkinson disease 5, autosomal dominant, susceptibility to 'Parkinson disease 5, autosomal dominant, susceptibility to' SubClassOf 'predisposes towards' some 'Parkinson disease' 'Parkinson disease 5, autosomal dominant, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Parkinson disease' http://purl.obolibrary.org/obo/MONDO_0027766 generalized lipodystrophy 'generalized lipodystrophy' EquivalentTo 'lipodystrophy' and ('disease has major feature' some 'Generalized lipodystrophy') 'generalized lipodystrophy' SubClassOf 'disease has major feature' some 'Generalized lipodystrophy' 'generalized lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Generalized lipodystrophy' 'generalized lipodystrophy' EquivalentTo 'lipodystrophy' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Generalized lipodystrophy') http://purl.obolibrary.org/obo/MONDO_0013125 CLAPO syndrome 'CLAPO syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008567 thyroid cancer, nonmedullary, 1 'thyroid cancer, nonmedullary, 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100520 http://purl.obolibrary.org/obo/MONDO_0008570 thyrotoxic periodic paralysis, susceptibility to, 1 'thyrotoxic periodic paralysis, susceptibility to, 1' SubClassOf 'predisposes towards' some 'thyrotoxic periodic paralysis' 'thyrotoxic periodic paralysis, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'thyrotoxic periodic paralysis' http://purl.obolibrary.org/obo/MONDO_0008597 trichorhinophalangeal syndrome, type III 'trichorhinophalangeal syndrome, type III' SubClassOf 'autosomal dominant disease' 'trichorhinophalangeal syndrome, type III' SubClassOf 'trichorhinophalangeal syndrome' 'trichorhinophalangeal syndrome, type III' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0008419 scoliosis, isolated, susceptibility to, 1 'scoliosis, isolated, susceptibility to, 1' SubClassOf 'predisposes towards' some 'idiopathic scoliosis' 'scoliosis, isolated, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'idiopathic scoliosis' http://purl.obolibrary.org/obo/MONDO_0008493 overhydrated hereditary stomatocytosis 'overhydrated hereditary stomatocytosis' SubClassOf 'familial hemolytic anemia' http://purl.obolibrary.org/obo/MONDO_0008494 cryohydrocytosis 'cryohydrocytosis' SubClassOf 'familial hemolytic anemia' http://purl.obolibrary.org/obo/UBERON_0004726 vasa recta 'vasa recta' SubClassOf 'vein' 'vasa recta' SubClassOf 'part of' some 'kidney' 'vasa recta' SubClassOf 'part of' some 'trunk' 'vasa recta' SubClassOf 'vasculature' http://purl.obolibrary.org/obo/MONDO_0958279 megalencephaly-polydactyly syndrome 'megalencephaly-polydactyly syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0958238 hyperemesis gravidarum, susceptibility to 'hyperemesis gravidarum, susceptibility to' SubClassOf 'predisposes towards' some 'hyperemesis gravidarum' 'hyperemesis gravidarum, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'hyperemesis gravidarum' http://purl.obolibrary.org/obo/MONDO_0958227 polydactyly-macrocephaly syndrome 'polydactyly-macrocephaly syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008162 otitis media, susceptibility to 'otitis media, susceptibility to' SubClassOf 'predisposes towards' some 'Otitis media' 'otitis media, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'Otitis media') 'otitis media, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Otitis media' 'otitis media, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Otitis media') http://purl.obolibrary.org/obo/HP_0100607 Dysmenorrhea 'Dysmenorrhea' SubClassOf 'Pain' http://purl.obolibrary.org/obo/MONDO_0018702 Castleman-Kojima disease 'Castleman-Kojima disease' SubClassOf 'type II hypersensitivity reaction disease' 'Castleman-Kojima disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0035838 'Castleman-Kojima disease' SubClassOf 'autoimmune lymphoproliferative syndrome' http://purl.obolibrary.org/obo/HP_0002653 Bone pain 'Bone pain' SubClassOf 'Abnormality of the skeletal system' http://purl.obolibrary.org/obo/MONDO_0018763 tubulinopathy-associated dysgyria 'tubulinopathy-associated dysgyria' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'tubulinopathy-associated dysgyria' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/HP_0002659 Increased susceptibility to fractures 'Increased susceptibility to fractures' SubClassOf 'Abnormality of the skeletal system' 'Increased susceptibility to fractures' SubClassOf 'Phenotypic abnormality' http://purl.obolibrary.org/obo/MONDO_0018591 ITM2B amyloidosis 'ITM2B amyloidosis' SubClassOf 'disease has major feature' some 'dementia' 'ITM2B amyloidosis' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'dementia' http://purl.obolibrary.org/obo/MONDO_0018582 GCGR-related hyperglucagonemia 'GCGR-related hyperglucagonemia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/HP_0002750 Delayed skeletal maturation 'Delayed skeletal maturation' SubClassOf 'Abnormality of the skeletal system' 'Delayed skeletal maturation' SubClassOf 'Phenotypic abnormality' http://purl.obolibrary.org/obo/MONDO_0018425 Huntington disease-like syndrome due to C9ORF72 expansions 'Huntington disease-like syndrome due to C9ORF72 expansions' SubClassOf 'disease has major feature' some 'dementia' 'Huntington disease-like syndrome due to C9ORF72 expansions' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'dementia' http://purl.obolibrary.org/obo/MONDO_0018430 partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome 'partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0018493 malignant hyperthermia of anesthesia 'malignant hyperthermia of anesthesia' SubClassOf 'disease has major feature' some 'Malignant hyperthermia' 'malignant hyperthermia of anesthesia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Malignant hyperthermia' http://purl.obolibrary.org/obo/MONDO_0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome 'dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome' SubClassOf 'disease has major feature' some 'Hypergonadotropic hypogonadism' 'dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome' SubClassOf 'disease has major feature' some 'Dilated cardiomyopathy' 'dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Dilated cardiomyopathy' 'dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Hypergonadotropic hypogonadism' http://purl.obolibrary.org/obo/MONDO_0008967 congenital bile acid synthesis defect 4 'congenital bile acid synthesis defect 4' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0018307 neurodegeneration with brain iron accumulation 'neurodegeneration with brain iron accumulation' SubClassOf 'disease has major feature' some 'dementia' 'neurodegeneration with brain iron accumulation' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'dementia' http://purl.obolibrary.org/obo/MONDO_0008992 Juberg-Hayward syndrome 'Juberg-Hayward syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008891 riboflavin transporter deficiency 'riboflavin transporter deficiency' SubClassOf 'disease has major feature' some 'Sensorineural hearing impairment' 'riboflavin transporter deficiency' SubClassOf 'disease has major feature' some 'bulbospinal muscular atrophy' 'riboflavin transporter deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'bulbospinal muscular atrophy' 'riboflavin transporter deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Sensorineural hearing impairment' http://www.ebi.ac.uk/efo/EFO_0002509 progressive external ophthalmoplegia 'progressive external ophthalmoplegia' SubClassOf 'congenital nervous system disorder' 'progressive external ophthalmoplegia' SubClassOf 'ophthalmoplegia' 'progressive external ophthalmoplegia' SubClassOf 'hereditary neurological disease' http://purl.obolibrary.org/obo/MONDO_0018214 generalized epilepsy with febrile seizures plus 'generalized epilepsy with febrile seizures plus' SubClassOf 'epilepsy' 'generalized epilepsy with febrile seizures plus' SubClassOf 'hereditary neurological disease' 'generalized epilepsy with febrile seizures plus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100576 http://purl.obolibrary.org/obo/MONDO_0018266 ataxia - telangiectasia variant 'ataxia - telangiectasia variant' SubClassOf 'disease shares features of' some 'ataxia telangiectasia' 'ataxia - telangiectasia variant' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'ataxia telangiectasia' http://purl.obolibrary.org/obo/MONDO_0008711 Goodman syndrome 'Goodman syndrome' SubClassOf 'disease shares features of' some 'Carpenter syndrome' 'Goodman syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'Carpenter syndrome' http://purl.obolibrary.org/obo/MONDO_0008738 aganglionosis, total intestinal 'aganglionosis, total intestinal' SubClassOf 'disease shares features of' some 'Hirschsprung disease' 'aganglionosis, total intestinal' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'Hirschsprung disease' http://purl.obolibrary.org/obo/MONDO_0008759 oxoglutaricaciduria 'oxoglutaricaciduria' SubClassOf 'metabolic epilepsy' http://purl.obolibrary.org/obo/MONDO_0008758 mitochondrial DNA depletion syndrome 4a 'mitochondrial DNA depletion syndrome 4a' SubClassOf 'metabolic epilepsy' http://purl.obolibrary.org/obo/MONDO_0008763 Alstrom syndrome 'Alstrom syndrome' SubClassOf 'disease has major feature' some 'Dilated cardiomyopathy' 'Alstrom syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0043195 Rubinstein Taybi like syndrome 'Rubinstein Taybi like syndrome' SubClassOf 'disease shares features of' some 'Rubinstein-Taybi syndrome' 'Rubinstein Taybi like syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'Rubinstein-Taybi syndrome' http://purl.obolibrary.org/obo/MONDO_0018045 Hoyeraal-Hreidarsson syndrome 'Hoyeraal-Hreidarsson syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Hoyeraal-Hreidarsson syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0014343 Desbuquois dysplasia 2 'Desbuquois dysplasia 2' SubClassOf 'hereditary disorder of connective tissue' 'Desbuquois dysplasia 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040022 http://purl.obolibrary.org/obo/MONDO_0014419 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 'ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0014201 developmental and epileptic encephalopathy, 18 'developmental and epileptic encephalopathy, 18' SubClassOf 'infantile epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0014232 craniosynostosis 5, susceptibility to 'craniosynostosis 5, susceptibility to' SubClassOf 'predisposes towards' some 'craniosynostosis' 'craniosynostosis 5, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0014241 leukemia, acute lymphoblastic, susceptibility to, 3 'leukemia, acute lymphoblastic, susceptibility to, 3' SubClassOf 'predisposes towards' some 'acute lymphoblastic leukemia' 'leukemia, acute lymphoblastic, susceptibility to, 3' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'acute lymphoblastic leukemia' http://purl.obolibrary.org/obo/MONDO_0004951 susceptibility to HIV infection 'susceptibility to HIV infection' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'HIV infection') 'susceptibility to HIV infection' SubClassOf 'predisposes towards' some 'HIV infection' 'susceptibility to HIV infection' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'HIV infection') 'susceptibility to HIV infection' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'HIV infection' http://purl.obolibrary.org/obo/MONDO_0014189 age related macular degeneration 13 'age related macular degeneration 13' SubClassOf 'predisposes towards' some 'age-related macular degeneration' 'age related macular degeneration 13' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'age-related macular degeneration' http://purl.obolibrary.org/obo/MONDO_0014038 colorectal cancer, susceptibility to, 12 'colorectal cancer, susceptibility to, 12' SubClassOf 'predisposes towards' some 'colorectal cancer' 'colorectal cancer, susceptibility to, 12' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'colorectal cancer' http://purl.obolibrary.org/obo/MONDO_0014091 mitochondrial complex V (ATP synthase) deficiency nuclear type 4B 'mitochondrial complex V (ATP synthase) deficiency nuclear type 4B' SubClassOf 'combined oxidative phosphorylation deficiency 22' 'mitochondrial complex V (ATP synthase) deficiency nuclear type 4B' SubClassOf 'mitochondrial proton-transporting ATP synthase complex deficiency' http://purl.obolibrary.org/obo/MONDO_0018822 global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome 'global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0018838 lissencephaly spectrum disorders 'lissencephaly spectrum disorders' SubClassOf 'disease has major feature' some 'Lissencephaly' 'lissencephaly spectrum disorders' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Lissencephaly' http://purl.obolibrary.org/obo/MONDO_0018861 Zellweger-like syndrome without peroxisomal anomalies 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf 'disease shares features of' some 'Zellweger spectrum disorders' 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'Zellweger spectrum disorders' http://purl.obolibrary.org/obo/MONDO_0024633 hypertensive nephropathy 'hypertensive nephropathy' SubClassOf 'inherited kidney disorder' 'hypertensive nephropathy' SubClassOf 'kidney disease' http://purl.obolibrary.org/obo/MONDO_0000685 visual agnosia 'visual agnosia' SubClassOf 'disease has major feature' some 'Visual agnosia' 'visual agnosia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Visual agnosia' http://purl.obolibrary.org/obo/MONDO_0009075 Dandy-Walker malformation-postaxial polydactyly syndrome 'Dandy-Walker malformation-postaxial polydactyly syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Dandy-Walker malformation-postaxial polydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0009074 facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome 'facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0009084 conductive deafness-ptosis-skeletal anomalies syndrome 'conductive deafness-ptosis-skeletal anomalies syndrome' SubClassOf 'disease has major feature' some 'Conductive hearing impairment' 'conductive deafness-ptosis-skeletal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Conductive hearing impairment' http://purl.obolibrary.org/obo/MONDO_0009080 split hand-foot malformation 1 with sensorineural hearing loss 'split hand-foot malformation 1 with sensorineural hearing loss' SubClassOf 'disease has major feature' some 'Ectrodactyly' 'split hand-foot malformation 1 with sensorineural hearing loss' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Ectrodactyly' http://purl.obolibrary.org/obo/MONDO_0024512 spondyloarthropathy, susceptibility to 'spondyloarthropathy, susceptibility to' SubClassOf 'predisposes towards' some 'spondyloarthropathy' 'spondyloarthropathy, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'spondyloarthropathy') 'spondyloarthropathy, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'spondyloarthropathy' 'spondyloarthropathy, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'spondyloarthropathy') http://www.ebi.ac.uk/efo/EFO_0007262 epilepsy with generalized tonic-clonic seizures 'epilepsy with generalized tonic-clonic seizures' SubClassOf 'generalised epilepsy' http://purl.obolibrary.org/obo/MONDO_0000456 cerebral creatine deficiency syndrome 'cerebral creatine deficiency syndrome' SubClassOf 'hereditary neurological disease' 'cerebral creatine deficiency syndrome' SubClassOf 'metabolic epilepsy' http://purl.obolibrary.org/obo/MONDO_0024462 susceptibility to familial cutaneous melanoma 'susceptibility to familial cutaneous melanoma' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'cutaneous melanoma') 'susceptibility to familial cutaneous melanoma' SubClassOf 'predisposes towards' some 'cutaneous melanoma' 'susceptibility to familial cutaneous melanoma' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'cutaneous melanoma' 'susceptibility to familial cutaneous melanoma' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'cutaneous melanoma') http://purl.obolibrary.org/obo/MONDO_0024252 global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome 'global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome' SubClassOf 'monogenic epilepsy' 'global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0007136 agnosia 'agnosia' EquivalentTo 'perceptual disorders' and ('disease has major feature' some 'Disturbed sensory perception') 'agnosia' SubClassOf 'disease has major feature' some 'Disturbed sensory perception' 'agnosia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Disturbed sensory perception' 'agnosia' EquivalentTo 'perceptual disorders' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Disturbed sensory perception') http://purl.obolibrary.org/obo/MONDO_0000358 orofacial cleft 'orofacial cleft' SubClassOf 'disease_has_basis_in_development_of' some 'embryonic facial prominence' 'orofacial cleft' SubClassOf 'disease has major feature' some 'Orofacial cleft' 'orofacial cleft' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_basis_in_development_of some 'embryonic facial prominence' 'orofacial cleft' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Orofacial cleft' http://purl.obolibrary.org/obo/MONDO_0000169 microphthalmia, isolated, with cataract 'microphthalmia, isolated, with cataract' SubClassOf 'isolated microphthalmia' http://purl.obolibrary.org/obo/MONDO_0000162 autoimmune thyroid disease, susceptibility to 'autoimmune thyroid disease, susceptibility to' SubClassOf 'predisposes towards' some 'autoimmune thyroid disease' 'autoimmune thyroid disease, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'autoimmune thyroid disease') 'autoimmune thyroid disease, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'autoimmune thyroid disease' 'autoimmune thyroid disease, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'autoimmune thyroid disease') http://purl.obolibrary.org/obo/MONDO_0000160 epilepsy, familial adult myoclonic 'epilepsy, familial adult myoclonic' SubClassOf 'hereditary neurological disease' http://purl.obolibrary.org/obo/MONDO_0000188 GLUT1 deficiency syndrome 'GLUT1 deficiency syndrome' SubClassOf 'metabolic epilepsy' 'GLUT1 deficiency syndrome' SubClassOf 'metabolic epilepsy' 'GLUT1 deficiency syndrome' SubClassOf 'carbohydrate transport disease' 'GLUT1 deficiency syndrome' SubClassOf 'inborn carbohydrate metabolic disorder' http://purl.obolibrary.org/obo/MONDO_0014809 DDX41-related hematologic malignancy predisposition syndrome 'DDX41-related hematologic malignancy predisposition syndrome' SubClassOf 'predisposes towards' some 'Myelodysplastic/Myeloproliferative Neoplasm' 'DDX41-related hematologic malignancy predisposition syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Myelodysplastic/Myeloproliferative Neoplasm' http://purl.obolibrary.org/obo/MONDO_0014855 intellectual disability, autosomal dominant 42 'intellectual disability, autosomal dominant 42' SubClassOf 'monogenic epilepsy' http://purl.obolibrary.org/obo/MONDO_0700057 neurological pain disorder 'neurological pain disorder' EquivalentTo 'nervous system disease' and ('disease has major feature' some 'Pain') 'neurological pain disorder' SubClassOf 'disease has major feature' some 'Pain' 'neurological pain disorder' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Pain' 'neurological pain disorder' EquivalentTo 'nervous system disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Pain') http://purl.obolibrary.org/obo/MONDO_0700041 neuroblastoma, susceptibility to, 2 'neuroblastoma, susceptibility to, 2' SubClassOf 'predisposes towards' some 'neuroblastoma' 'neuroblastoma, susceptibility to, 2' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'neuroblastoma' http://www.ebi.ac.uk/efo/EFO_0007319 hyperprolactinemia 'hyperprolactinemia' SubClassOf 'disease has major feature' some 'Increased circulating prolactin concentration' 'hyperprolactinemia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Increased circulating prolactin concentration' http://purl.obolibrary.org/obo/MONDO_0000065 microvascular complications of diabetes, susceptibility 'microvascular complications of diabetes, susceptibility' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'diabetic retinopathy') 'microvascular complications of diabetes, susceptibility' SubClassOf 'predisposes towards' some 'diabetic retinopathy' 'microvascular complications of diabetes, susceptibility' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'diabetic retinopathy') 'microvascular complications of diabetes, susceptibility' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'diabetic retinopathy' http://purl.obolibrary.org/obo/MONDO_0000070 Mycobacterium tuberculosis, susceptibility 'Mycobacterium tuberculosis, susceptibility' SubClassOf 'predisposes towards' some 'tuberculosis' 'Mycobacterium tuberculosis, susceptibility' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'tuberculosis') 'Mycobacterium tuberculosis, susceptibility' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'tuberculosis') 'Mycobacterium tuberculosis, susceptibility' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'tuberculosis' http://purl.obolibrary.org/obo/MONDO_0014746 SLC39A8-CDG 'SLC39A8-CDG' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'SLC39A8-CDG' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0000108 bacteremia, susceptibility 'bacteremia, susceptibility' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'bacteriemia') 'bacteremia, susceptibility' SubClassOf 'predisposes towards' some 'bacteriemia' 'bacteremia, susceptibility' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'bacteriemia') 'bacteremia, susceptibility' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'bacteriemia' http://purl.obolibrary.org/obo/MONDO_0014787 severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome 'severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0000156 trigonocephaly 'trigonocephaly' SubClassOf 'disease has major feature' some 'Trigonocephaly' 'trigonocephaly' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Trigonocephaly' http://purl.obolibrary.org/obo/MONDO_0000152 thiamine-responsive dysfunction syndrome 'thiamine-responsive dysfunction syndrome' SubClassOf 'disease responds to' some 'vitamin B1' 'thiamine-responsive dysfunction syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'vitamin B1' http://purl.obolibrary.org/obo/MONDO_0014795 exercise intolerance, riboflavin-responsive 'exercise intolerance, riboflavin-responsive' SubClassOf 'disease responds to' some 'riboflavin' 'exercise intolerance, riboflavin-responsive' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'riboflavin' http://purl.obolibrary.org/obo/MONDO_0014601 autosomal recessive spinocerebellar ataxia 20 'autosomal recessive spinocerebellar ataxia 20' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'autosomal recessive spinocerebellar ataxia 20' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0700249 epidermolytic hyperkeratosis 1 'epidermolytic hyperkeratosis 1' SubClassOf 'epidermolytic ichthyosis' http://purl.obolibrary.org/obo/MONDO_0014471 mitochondrial proton-transporting ATP synthase complex deficiency 'mitochondrial proton-transporting ATP synthase complex deficiency' SubClassOf 'disease has basis in dysfunction of' some 'obsolete mitochondrial proton-transporting ATP synthase complex' 'mitochondrial proton-transporting ATP synthase complex deficiency' EquivalentTo 'disease' and ('disease has basis in dysfunction of' some 'obsolete mitochondrial proton-transporting ATP synthase complex') http://purl.obolibrary.org/obo/UBERON_0004363 pharyngeal arch artery 'pharyngeal arch artery' SubClassOf 'part of' some 'head' http://purl.obolibrary.org/obo/MONDO_0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome 'lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0009830 parkinsonian-pyramidal syndrome 'parkinsonian-pyramidal syndrome' SubClassOf 'predisposes towards' some 'young-onset Parkinson disease' 'parkinsonian-pyramidal syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'young-onset Parkinson disease' http://purl.obolibrary.org/obo/MONDO_0010826 childhood absence epilepsy 'childhood absence epilepsy' SubClassOf 'hereditary neurological disease' 'childhood absence epilepsy' SubClassOf 'generalised epilepsy' http://purl.obolibrary.org/obo/MONDO_0010853 Helicobacter pylori infection, susceptibility to 'Helicobacter pylori infection, susceptibility to' SubClassOf 'predisposes towards' some 'Helicobacter pylori infectious disease' 'Helicobacter pylori infection, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Helicobacter pylori infectious disease' http://purl.obolibrary.org/obo/MONDO_0010898 autosomal dominant epilepsy with auditory features 'autosomal dominant epilepsy with auditory features' SubClassOf 'temporal lobe epilepsy' 'autosomal dominant epilepsy with auditory features' SubClassOf 'familial partial epilepsy' http://purl.obolibrary.org/obo/MONDO_0020246 inherited vitreoretinopathy 'inherited vitreoretinopathy' EquivalentTo 'genetic disorder' and ('disease has major feature' some 'Vitreoretinopathy') 'inherited vitreoretinopathy' SubClassOf 'disease has major feature' some 'Vitreoretinopathy' 'inherited vitreoretinopathy' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Vitreoretinopathy' 'inherited vitreoretinopathy' EquivalentTo 'genetic disorder' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Vitreoretinopathy') http://purl.obolibrary.org/obo/MONDO_0020242 hereditary macular dystrophy 'hereditary macular dystrophy' SubClassOf 'disease has major feature' some 'Macular dystrophy' 'hereditary macular dystrophy' EquivalentTo 'inherited retinal dystrophy' and ('disease has major feature' some 'Macular dystrophy') 'hereditary macular dystrophy' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Macular dystrophy' 'hereditary macular dystrophy' EquivalentTo 'inherited retinal dystrophy' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Macular dystrophy') http://purl.obolibrary.org/obo/MONDO_0019290 hypopigmentation of the skin 'hypopigmentation of the skin' EquivalentTo 'disease' and ('disease has major feature' some 'Hypopigmentation of the skin') 'hypopigmentation of the skin' SubClassOf 'disease has major feature' some 'Hypopigmentation of the skin' 'hypopigmentation of the skin' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Hypopigmentation of the skin') 'hypopigmentation of the skin' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Hypopigmentation of the skin' http://purl.obolibrary.org/obo/MONDO_0019289 hyperpigmentation of the skin 'hyperpigmentation of the skin' EquivalentTo 'disease' and ('disease has major feature' some 'Hyperpigmentation of the skin') 'hyperpigmentation of the skin' SubClassOf 'disease has major feature' some 'Hyperpigmentation of the skin' 'hyperpigmentation of the skin' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Hyperpigmentation of the skin' 'hyperpigmentation of the skin' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Hyperpigmentation of the skin') http://purl.obolibrary.org/obo/MONDO_0019287 ectodermal dysplasia syndrome 'ectodermal dysplasia syndrome' SubClassOf 'disease_has_basis_in_development_of' some 'ectoderm' 'ectodermal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_basis_in_development_of some 'ectoderm' http://purl.obolibrary.org/obo/MONDO_0020289 congenital tricuspid malformation 'congenital tricuspid malformation' SubClassOf 'disease has major feature' some 'Abnormal tricuspid valve morphology' 'congenital tricuspid malformation' EquivalentTo 'disease' and ('disease has major feature' some 'Abnormal tricuspid valve morphology') 'congenital tricuspid malformation' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Abnormal tricuspid valve morphology' 'congenital tricuspid malformation' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Abnormal tricuspid valve morphology') http://purl.obolibrary.org/obo/MONDO_0009724 nail-patella-like renal disease 'nail-patella-like renal disease' SubClassOf 'kidney disease' 'nail-patella-like renal disease' SubClassOf 'inherited kidney disorder' http://purl.obolibrary.org/obo/MONDO_0009720 Keipert syndrome 'Keipert syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009741 neuroblastoma, susceptibility to, 1 'neuroblastoma, susceptibility to, 1' SubClassOf 'predisposes towards' some 'neuroblastoma' 'neuroblastoma, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'neuroblastoma' http://purl.obolibrary.org/obo/MONDO_0010787 Kearns-Sayre syndrome 'Kearns-Sayre syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0010790 MERRF syndrome 'MERRF syndrome' SubClassOf 'hereditary neurological disease' 'MERRF syndrome' SubClassOf 'metabolic epilepsy' 'MERRF syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0010794 NARP syndrome 'NARP syndrome' SubClassOf 'metabolic epilepsy' http://purl.obolibrary.org/obo/MONDO_0019132 spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome 'spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0019169 pyruvate dehydrogenase deficiency 'pyruvate dehydrogenase deficiency' SubClassOf 'metabolic epilepsy' http://purl.obolibrary.org/obo/MONDO_0020175 malignant tumor of palpebral epidermis 'malignant tumor of palpebral epidermis' SubClassOf 'palpebral epidermal tumor' 'malignant tumor of palpebral epidermis' EquivalentTo 'cancer' and ('disease has location' some 'skin of eyelid') 'malignant tumor of palpebral epidermis' SubClassOf 'eyelid cancer' 'malignant tumor of palpebral epidermis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019197 folinic acid-responsive seizures 'folinic acid-responsive seizures' SubClassOf 'metabolic epilepsy' 'folinic acid-responsive seizures' SubClassOf 'metabolic epilepsy' http://purl.obolibrary.org/obo/MONDO_0009618 microcephaly-cardiomyopathy syndrome 'microcephaly-cardiomyopathy syndrome' SubClassOf 'disease has major feature' some 'Dilated cardiomyopathy' 'microcephaly-cardiomyopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0009666 holocarboxylase synthetase deficiency 'holocarboxylase synthetase deficiency' SubClassOf 'hereditary neurological disease' 'holocarboxylase synthetase deficiency' SubClassOf 'metabolic epilepsy' http://purl.obolibrary.org/obo/MONDO_0009665 biotinidase deficiency 'biotinidase deficiency' SubClassOf 'metabolic epilepsy' http://purl.obolibrary.org/obo/MONDO_0019002 Lhermitte-Duclos disease 'Lhermitte-Duclos disease' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Lhermitte-Duclos disease' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0009696 juvenile myoclonic epilepsy 'juvenile myoclonic epilepsy' SubClassOf 'adolescent/adult-onset epilepsy syndrome' 'juvenile myoclonic epilepsy' SubClassOf 'movement disorder' 'juvenile myoclonic epilepsy' SubClassOf 'childhood electroclinical syndrome' 'juvenile myoclonic epilepsy' SubClassOf 'familial partial epilepsy' 'juvenile myoclonic epilepsy' SubClassOf 'adolescence-adult electroclinical syndrome' 'juvenile myoclonic epilepsy' SubClassOf 'generalised epilepsy' http://purl.obolibrary.org/obo/MONDO_0019053 peroxisomal disease 'peroxisomal disease' SubClassOf 'hereditary neurological disease' 'peroxisomal disease' SubClassOf 'metabolic epilepsy' http://purl.obolibrary.org/obo/MONDO_0019046 leukodystrophy 'leukodystrophy' SubClassOf 'disease has major feature' some 'CNS hypomyelination' 'leukodystrophy' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'CNS hypomyelination' http://purl.obolibrary.org/obo/MONDO_0019078 Ritscher-Schinzel syndrome 'Ritscher-Schinzel syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Ritscher-Schinzel syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' http://www.ebi.ac.uk/efo/EFO_1001467 Hypereosinophilic syndrome 'Hypereosinophilic syndrome' SubClassOf 'disease has major feature' some 'Eosinophilia' 'Hypereosinophilic syndrome' EquivalentTo 'syndromic disease' and ('disease has major feature' some 'Eosinophilia') 'Hypereosinophilic syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Eosinophilia' 'Hypereosinophilic syndrome' EquivalentTo 'syndromic disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Eosinophilia') http://purl.obolibrary.org/obo/HP_0003202 Skeletal muscle atrophy 'Skeletal muscle atrophy' SubClassOf 'Abnormality of muscle size' 'Skeletal muscle atrophy' SubClassOf 'Abnormal skeletal muscle morphology' http://www.ebi.ac.uk/efo/EFO_1001402 postencephalitic Parkinson disease 'postencephalitic Parkinson disease' SubClassOf 'disease has major feature' some 'dementia' 'postencephalitic Parkinson disease' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'dementia' http://purl.obolibrary.org/obo/MONDO_0009500 kuru, susceptibility to 'kuru, susceptibility to' SubClassOf 'predisposes towards' some 'kuru' 'kuru, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'kuru' http://www.ebi.ac.uk/efo/EFO_1001422 Sertoli Cell-Only Syndrome 'Sertoli Cell-Only Syndrome' SubClassOf 'azoospermia' 'Sertoli Cell-Only Syndrome' SubClassOf 'male reproductive system disease' http://purl.obolibrary.org/obo/MONDO_0010574 syndromic X-linked intellectual disability 5 'syndromic X-linked intellectual disability 5' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'syndromic X-linked intellectual disability 5' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0009405 cervical hypertrichosis-peripheral neuropathy syndrome 'cervical hypertrichosis-peripheral neuropathy syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'cervical hypertrichosis-peripheral neuropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0010417 syndromic X-linked intellectual disability Najm type 'syndromic X-linked intellectual disability Najm type' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'syndromic X-linked intellectual disability Najm type' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0010425 Lisch epithelial corneal dystrophy 'Lisch epithelial corneal dystrophy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009480 Joubert syndrome with oculorenal defect 'Joubert syndrome with oculorenal defect' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Joubert syndrome with oculorenal defect' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0010464 X-linked cerebral-cerebellar-coloboma syndrome syndrome 'X-linked cerebral-cerebellar-coloboma syndrome syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'X-linked cerebral-cerebellar-coloboma syndrome syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0009499 Krabbe disease 'Krabbe disease' SubClassOf 'disease has basis in accumulation of' some 'psychosine' 'Krabbe disease' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_basis_in_accumulation_of some 'psychosine' http://purl.obolibrary.org/obo/MONDO_0010305 creatine transporter deficiency 'creatine transporter deficiency' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 'hemolytic uremic syndrome, atypical, susceptibility to, 1' SubClassOf 'predisposes towards' some 'atypical hemolytic-uremic syndrome' 'hemolytic uremic syndrome, atypical, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'atypical hemolytic-uremic syndrome' http://purl.obolibrary.org/obo/MONDO_0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome 'X-linked intellectual disability-cerebellar hypoplasia syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'X-linked intellectual disability-cerebellar hypoplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' http://www.ebi.ac.uk/efo/EFO_1001175 secondary Parkinson disease 'secondary Parkinson disease' SubClassOf 'disease shares features of' some 'Parkinson disease' 'secondary Parkinson disease' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'Parkinson disease' http://purl.obolibrary.org/obo/MONDO_0000836 disease of bone structure 'disease of bone structure' SubClassOf 'disease has major feature' some 'Abnormal skeletal morphology' 'disease of bone structure' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Abnormal skeletal morphology' http://purl.obolibrary.org/obo/MONDO_0010255 diabetes mellitus, insulin-dependent, X-linked, susceptibility to 'diabetes mellitus, insulin-dependent, X-linked, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'type 1 diabetes mellitus') 'diabetes mellitus, insulin-dependent, X-linked, susceptibility to' SubClassOf 'predisposes towards' some 'type 1 diabetes mellitus' 'diabetes mellitus, insulin-dependent, X-linked, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'type 1 diabetes mellitus') 'diabetes mellitus, insulin-dependent, X-linked, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'type 1 diabetes mellitus' http://purl.obolibrary.org/obo/MONDO_0010176 orofaciodigital syndrome type 6 'orofaciodigital syndrome type 6' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'orofaciodigital syndrome type 6' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0010172 VACTERL with hydrocephalus 'VACTERL with hydrocephalus' SubClassOf 'disease shares features of' some 'VACTERL/vater association' 'VACTERL with hydrocephalus' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'VACTERL/vater association' http://purl.obolibrary.org/obo/MONDO_0030434 epilepsy, idiopathic generalized, susceptibility to, 18 'epilepsy, idiopathic generalized, susceptibility to, 18' SubClassOf 'predisposes towards' some 'generalised epilepsy' 'epilepsy, idiopathic generalized, susceptibility to, 18' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'generalised epilepsy' http://purl.obolibrary.org/obo/MONDO_0030473 developmental and epileptic encephalopathy 99 'developmental and epileptic encephalopathy 99' SubClassOf 'ATP1A3-associated neurological disorder' http://purl.obolibrary.org/obo/MONDO_0020836 autism, susceptiblity to 'autism, susceptiblity to' SubClassOf 'predisposes towards' some 'autism' 'autism, susceptiblity to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'autism') 'autism, susceptiblity to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'autism') 'autism, susceptiblity to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'autism' http://purl.obolibrary.org/obo/MONDO_0020715 multiple system atrophy 1, susceptibility to 'multiple system atrophy 1, susceptibility to' SubClassOf 'predisposes towards' some 'multiple system atrophy' 'multiple system atrophy 1, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'multiple system atrophy' http://purl.obolibrary.org/obo/MONDO_0020705 neural tube defects, susceptibility to 'neural tube defects, susceptibility to' SubClassOf 'predisposes towards' some 'neural tube defect' 'neural tube defects, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'neural tube defect') 'neural tube defects, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'neural tube defect') 'neural tube defects, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'neural tube defect' http://purl.obolibrary.org/obo/MONDO_0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder 'childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0020727 combined oxidative phosphorylation deficiency 22 'combined oxidative phosphorylation deficiency 22' SubClassOf 'mitochondrial proton-transporting ATP synthase complex deficiency' http://purl.obolibrary.org/obo/MONDO_0020722 nephrolithiasis susceptibility caused by SLC26A1 'nephrolithiasis susceptibility caused by SLC26A1' SubClassOf 'predisposes towards' some 'nephrolithiasis' 'nephrolithiasis susceptibility caused by SLC26A1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'nephrolithiasis' http://purl.obolibrary.org/obo/MONDO_0020752 myoclonic epilepsy, juvenile, susceptibility to, 1 'myoclonic epilepsy, juvenile, susceptibility to, 1' SubClassOf 'predisposes towards' some 'juvenile myoclonic epilepsy' 'myoclonic epilepsy, juvenile, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'juvenile myoclonic epilepsy' http://purl.obolibrary.org/obo/MONDO_0020630 epileptic encephalopathy, infantile or early childhood, 1 'epileptic encephalopathy, infantile or early childhood, 1' SubClassOf 'epileptic encephalopathy, infantile or early childhood' 'epileptic encephalopathy, infantile or early childhood, 1' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0020627 epileptic encephalopathy, infantile or early childhood 'epileptic encephalopathy, infantile or early childhood' SubClassOf 'hereditary neurological disease' 'epileptic encephalopathy, infantile or early childhood' SubClassOf 'epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_1030008 mitral valve insufficiency 'mitral valve insufficiency' SubClassOf 'mitral valve disease' 'mitral valve insufficiency' SubClassOf 'mitral valve disease' http://purl.obolibrary.org/obo/MONDO_1030001 epilepsy, juvenile absence, susceptibility to 'epilepsy, juvenile absence, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'juvenile absence epilepsy') 'epilepsy, juvenile absence, susceptibility to' SubClassOf 'predisposes towards' some 'juvenile absence epilepsy' 'epilepsy, juvenile absence, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'juvenile absence epilepsy' 'epilepsy, juvenile absence, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'juvenile absence epilepsy') http://purl.obolibrary.org/obo/MONDO_0020460 acquired von willebrand syndrome 'acquired von willebrand syndrome' SubClassOf 'disease shares features of' some 'hereditary von Willebrand disease' 'acquired von willebrand syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'hereditary von Willebrand disease' http://purl.obolibrary.org/obo/MONDO_0019485 idiopathic hemiconvulsion-hemiplegia syndrome 'idiopathic hemiconvulsion-hemiplegia syndrome' SubClassOf 'generalised epilepsy' 'idiopathic hemiconvulsion-hemiplegia syndrome' SubClassOf 'idiopathic disease' http://purl.obolibrary.org/obo/MONDO_0020485 King-Denborough syndrome 'King-Denborough syndrome' SubClassOf 'disease shares features of' some 'Noonan syndrome' 'King-Denborough syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'Noonan syndrome' http://purl.obolibrary.org/obo/MONDO_0020483 acetazolamide-responsive myotonia 'acetazolamide-responsive myotonia' EquivalentTo 'potassium-aggravated myotonia' and ('disease responds to' some 'acetazolamide') 'acetazolamide-responsive myotonia' SubClassOf 'disease responds to' some 'acetazolamide' 'acetazolamide-responsive myotonia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'acetazolamide' 'acetazolamide-responsive myotonia' EquivalentTo 'potassium-aggravated myotonia' and (http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'acetazolamide') http://purl.obolibrary.org/obo/MONDO_0009958 adult Refsum disease 'adult Refsum disease' SubClassOf 'disease has major feature' some 'Leukoencephalopathy' 'adult Refsum disease' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Leukoencephalopathy' http://purl.obolibrary.org/obo/MONDO_0010940 inherited susceptibility to asthma 'inherited susceptibility to asthma' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'asthma') 'inherited susceptibility to asthma' SubClassOf 'predisposes towards' some 'asthma' 'inherited susceptibility to asthma' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'asthma') 'inherited susceptibility to asthma' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'asthma' http://purl.obolibrary.org/obo/MONDO_0009966 NPHP3-related Meckel-like syndrome 'NPHP3-related Meckel-like syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'NPHP3-related Meckel-like syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0020308 benign childhood occipital epilepsy, Gastaut type 'benign childhood occipital epilepsy, Gastaut type' SubClassOf 'childhood-onset epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0020307 benign childhood occipital epilepsy, Panayiotopoulos type 'benign childhood occipital epilepsy, Panayiotopoulos type' SubClassOf 'childhood-onset epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0044315 craniosynostosis 7 'craniosynostosis 7' SubClassOf 'predisposes towards' some 'craniosynostosis' 'craniosynostosis 7' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0044318 intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 'intellectual developmental disorder with gastrointestinal difficulties and high pain threshold' SubClassOf 'Neurodevelopmental disorder' 'intellectual developmental disorder with gastrointestinal difficulties and high pain threshold' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0044326 developmental delay and seizures with or without movement abnormalities 'developmental delay and seizures with or without movement abnormalities' SubClassOf 'Neurodevelopmental disorder' 'developmental delay and seizures with or without movement abnormalities' SubClassOf http://purl.obolibrary.org/obo/MONDO_1010097 'developmental delay and seizures with or without movement abnormalities' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0020380 autosomal dominant cerebellar ataxia 'autosomal dominant cerebellar ataxia' SubClassOf 'disease has major feature' some 'dementia' 'autosomal dominant cerebellar ataxia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'dementia' http://purl.obolibrary.org/obo/MONDO_0015688 myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 'myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2' SubClassOf 'disease has major feature' some 'Eosinophilia' 'myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Eosinophilia' http://purl.obolibrary.org/obo/MONDO_0015566 2q24 microdeletion syndrome '2q24 microdeletion syndrome' SubClassOf 'disease has major feature' some 'cataract' '2q24 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'cataract' http://purl.obolibrary.org/obo/MONDO_0015424 lethal chondrodysplasia, Moerman type 'lethal chondrodysplasia, Moerman type' SubClassOf 'osteochondrodysplasia' 'lethal chondrodysplasia, Moerman type' SubClassOf 'skeletal dysplasia' 'lethal chondrodysplasia, Moerman type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015448 mitochondrial complex III deficiency 'mitochondrial complex III deficiency' EquivalentTo 'disease' and ('disease has basis in dysfunction of' some 'obsolete mitochondrial respiratory chain complex III') 'mitochondrial complex III deficiency' SubClassOf 'disease has basis in dysfunction of' some 'obsolete mitochondrial respiratory chain complex III' http://purl.obolibrary.org/obo/MONDO_0015526 cold-induced sweating syndrome 'cold-induced sweating syndrome' SubClassOf 'disease has major feature' some 'Cold-induced sweating' 'cold-induced sweating syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Cold-induced sweating' http://purl.obolibrary.org/obo/MONDO_0030972 spermatogenic failure 74 'spermatogenic failure 74' SubClassOf 'azoospermia' 'spermatogenic failure 74' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0015356 hereditary neoplastic syndrome 'hereditary neoplastic syndrome' SubClassOf 'predisposes towards' some 'neoplasm' 'hereditary neoplastic syndrome' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'neoplasm') 'hereditary neoplastic syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'neoplasm' 'hereditary neoplastic syndrome' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'neoplasm') http://purl.obolibrary.org/obo/MONDO_0030818 spermatogenic failure 73 'spermatogenic failure 73' SubClassOf 'azoospermia' 'spermatogenic failure 73' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0030809 spermatogenic failure 72 'spermatogenic failure 72' SubClassOf 'azoospermia' 'spermatogenic failure 72' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0015235 arachnodactyly-intellectual disability-dysmorphism syndrome 'arachnodactyly-intellectual disability-dysmorphism syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0054865 encephalopathy due to mitochondrial and peroxisomal fission defect 'encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf 'hereditary neurological disease' 'encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf 'brain disease' http://purl.obolibrary.org/obo/MONDO_0015282 cardiomyopathy-cataract-hip spine disease syndrome 'cardiomyopathy-cataract-hip spine disease syndrome' SubClassOf 'disease has major feature' some 'articular cartilage disorder' 'cardiomyopathy-cataract-hip spine disease syndrome' SubClassOf 'disease has major feature' some 'Dilated cardiomyopathy' 'cardiomyopathy-cataract-hip spine disease syndrome' SubClassOf 'disease has major feature' some 'Cataract' 'cardiomyopathy-cataract-hip spine disease syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'articular cartilage disorder' 'cardiomyopathy-cataract-hip spine disease syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Dilated cardiomyopathy' 'cardiomyopathy-cataract-hip spine disease syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Cataract' http://purl.obolibrary.org/obo/MONDO_0030733 spermatogenic failure 70 'spermatogenic failure 70' SubClassOf 'azoospermia' 'spermatogenic failure 70' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0054754 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 'encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8' SubClassOf 'predisposes towards' some 'Mendelian encephalopathy' 'encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Mendelian encephalopathy' http://purl.obolibrary.org/obo/MONDO_0015140 early-onset autosomal dominant Alzheimer disease 'early-onset autosomal dominant Alzheimer disease' SubClassOf 'disease has major feature' some 'dementia' 'early-onset autosomal dominant Alzheimer disease' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'dementia' http://purl.obolibrary.org/obo/MONDO_0054750 amyotrophic lateral sclerosis, susceptibility to, 24 'amyotrophic lateral sclerosis, susceptibility to, 24' SubClassOf 'predisposes towards' some 'familial amyotrophic lateral sclerosis' 'amyotrophic lateral sclerosis, susceptibility to, 24' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'familial amyotrophic lateral sclerosis' http://purl.obolibrary.org/obo/MONDO_0030677 Charcot-Marie-Tooth disease, demyelinating, IIA 1I 'Charcot-Marie-Tooth disease, demyelinating, IIA 1I' SubClassOf 'POLR3B-related disorder' http://purl.obolibrary.org/obo/MONDO_0001941 blindness (disorder) 'blindness (disorder)' SubClassOf 'disease has major feature' some 'Blindness' 'blindness (disorder)' EquivalentTo 'vision disorder' and ('disease has major feature' some 'Blindness') 'blindness (disorder)' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Blindness' 'blindness (disorder)' EquivalentTo 'vision disorder' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Blindness') http://purl.obolibrary.org/obo/MONDO_1010030 pediatric high-grade glioma 'pediatric high-grade glioma' SubClassOf 'malignant glioma' 'pediatric high-grade glioma' SubClassOf 'malignant glioma' http://purl.obolibrary.org/obo/MONDO_0011138 systemic lupus erythematosus, susceptibility to, 1 'systemic lupus erythematosus, susceptibility to, 1' SubClassOf 'predisposes towards' some 'systemic lupus erythematosus' 'systemic lupus erythematosus, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'systemic lupus erythematosus' http://purl.obolibrary.org/obo/MONDO_0011147 chromosome 18q deletion syndrome 'chromosome 18q deletion syndrome' SubClassOf 'disease has major feature' some 'cataract' 'chromosome 18q deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'cataract' http://purl.obolibrary.org/obo/MONDO_0011157 Gomez-Lopez-Hernandez syndrome 'Gomez-Lopez-Hernandez syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Gomez-Lopez-Hernandez syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0011163 malignant hyperthermia, susceptibility to, 5 'malignant hyperthermia, susceptibility to, 5' SubClassOf 'predisposes towards' some 'malignant hyperthermia of anesthesia' 'malignant hyperthermia, susceptibility to, 5' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'malignant hyperthermia of anesthesia' http://purl.obolibrary.org/obo/MONDO_0001627 dementia 'dementia' EquivalentTo 'cognitive disorder' and ('disease has major feature' some 'Dementia') 'dementia' SubClassOf 'disease has major feature' some 'Dementia' 'dementia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Dementia' 'dementia' EquivalentTo 'cognitive disorder' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Dementia') http://purl.obolibrary.org/obo/MONDO_0001673 diarrheal disease 'diarrheal disease' EquivalentTo 'disease' and ('disease has major feature' some 'Diarrhea') 'diarrheal disease' SubClassOf 'disease has major feature' some 'Diarrhea' 'diarrheal disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Diarrhea') 'diarrheal disease' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Diarrhea' http://purl.obolibrary.org/obo/OBI_0000971 fresh specimen 'frozen specimen' DisjointWith 'fresh specimen' 'paraffin specimen' DisjointWith 'fresh specimen' 'fresh specimen' DisjointWith 'agar stab specimen' http://purl.obolibrary.org/obo/OBI_0000981 agar stab specimen 'frozen specimen' DisjointWith 'agar stab specimen' 'fresh specimen' DisjointWith 'agar stab specimen' 'paraffin specimen' DisjointWith 'agar stab specimen' http://purl.obolibrary.org/obo/OBI_0000950 paraffin specimen 'paraffin specimen' DisjointWith 'fresh specimen' 'frozen specimen' DisjointWith 'paraffin specimen' 'paraffin specimen' DisjointWith 'agar stab specimen' http://purl.obolibrary.org/obo/MONDO_0001551 ulceration of vulva 'ulceration of vulva' SubClassOf 'disease has major feature' some 'Genital ulcers' 'ulceration of vulva' EquivalentTo 'disease' and ('disease has location' some 'mammalian vulva') and ('disease has major feature' some 'Genital ulcers') 'ulceration of vulva' EquivalentTo 'disease' and ('disease has location' some 'mammalian vulva') and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Genital ulcers') 'ulceration of vulva' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Genital ulcers' http://purl.obolibrary.org/obo/MONDO_0001566 hypercalcemia disease 'hypercalcemia disease' SubClassOf 'disease has major feature' some 'Hypercalcemia' 'hypercalcemia disease' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Hypercalcemia' http://purl.obolibrary.org/obo/OBI_0000922 frozen specimen 'frozen specimen' DisjointWith 'fresh specimen' 'frozen specimen' DisjointWith 'agar stab specimen' 'frozen specimen' DisjointWith 'paraffin specimen' http://purl.obolibrary.org/obo/MONDO_0001437 pulmonary alveolar proteinosis 'pulmonary alveolar proteinosis' SubClassOf 'disease has major feature' some 'Intraalveolar phospholipid accumulation' 'pulmonary alveolar proteinosis' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Intraalveolar phospholipid accumulation' http://purl.obolibrary.org/obo/MONDO_0001328 thyroid hormone resistance syndrome 'thyroid hormone resistance syndrome' SubClassOf 'disease has major feature' some 'Abnormal thyroid-stimulating hormone level' 'thyroid hormone resistance syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Abnormal thyroid-stimulating hormone level' http://purl.obolibrary.org/obo/MONDO_0001340 heart cancer 'heart cancer' SubClassOf 'thoracic cancer' 'heart cancer' SubClassOf 'thoracic cancer' http://purl.obolibrary.org/obo/MONDO_0015985 bone dysplasia, Azouz type 'bone dysplasia, Azouz type' SubClassOf 'skeletal dysplasia' 'bone dysplasia, Azouz type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0011904 seizures, benign familial infantile, 3 'seizures, benign familial infantile, 3' SubClassOf 'benign familial infantile epilepsy' http://purl.obolibrary.org/obo/MONDO_0035838 idiopathic multicentric Castleman disease 'idiopathic multicentric Castleman disease' SubClassOf 'Castleman disease' http://purl.obolibrary.org/obo/MONDO_0100476 lipodystrophy, partial, acquired, susceptibility to 'lipodystrophy, partial, acquired, susceptibility to' SubClassOf 'inherited disease susceptibility' 'lipodystrophy, partial, acquired, susceptibility to' SubClassOf 'predisposes towards' some 'acquired partial lipodystrophy' http://purl.obolibrary.org/obo/MONDO_0100573 combined generalized and focal epilepsy 'combined generalized and focal epilepsy' EquivalentTo 'generalized epilepsy' and 'partial epilepsy' 'combined generalized and focal epilepsy' SubClassOf 'partial epilepsy' 'combined generalized and focal epilepsy' SubClassOf 'generalized epilepsy' http://purl.obolibrary.org/obo/MONDO_0100574 generalized epilepsy 'generalized epilepsy' SubClassOf 'epilepsy' http://purl.obolibrary.org/obo/MONDO_0100575 genetic generalized epilepsy 'genetic generalized epilepsy' SubClassOf 'generalized epilepsy' http://purl.obolibrary.org/obo/MONDO_0100576 hereditary generalized epilepsy 'hereditary generalized epilepsy' SubClassOf 'hereditary neurological disease' 'hereditary generalized epilepsy' SubClassOf 'genetic generalized epilepsy' http://purl.obolibrary.org/obo/MONDO_0100520 NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction 'NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction' SubClassOf 'syndromic disease' 'NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction' SubClassOf 'endocrine system disease' 'NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_1040022 linkeropathy 'linkeropathy' SubClassOf 'syndromic disease' 'linkeropathy' SubClassOf 'osteochondrodysplasia' 'linkeropathy' SubClassOf 'connective tissue disease' http://purl.obolibrary.org/obo/MONDO_1040054 DHDDS-CDG 'DHDDS-CDG' SubClassOf 'congenital disorder of glycosylation' http://purl.obolibrary.org/obo/MONDO_1040001 TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations 'TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations' SubClassOf 'developmental defect during embryogenesis' 'TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0100068 SLC10A7-congenital disorder of glycosylation 'SLC10A7-congenital disorder of glycosylation' SubClassOf 'bone disease' 'SLC10A7-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation' http://purl.obolibrary.org/obo/MONDO_0012614 intellectual disability, autosomal recessive 6 'intellectual disability, autosomal recessive 6' SubClassOf 'autosomal recessive non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0012430 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 'cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2' SubClassOf 'cerebellar ataxia, intellectual disability, and dysequilibrium' http://purl.obolibrary.org/obo/MONDO_0012291 immunoglobulin A deficiency 2 'immunoglobulin A deficiency 2' SubClassOf 'selective IgA deficiency disease' http://purl.obolibrary.org/obo/OBA_VT0000277 heart shape trait 'heart shape trait' SubClassOf 'inheres in' some 'anatomical entity' 'heart shape trait' SubClassOf 'phenotype' http://purl.obolibrary.org/obo/MONDO_0012371 Noonan syndrome 3 'Noonan syndrome 3' SubClassOf 'Noonan syndrome' http://purl.obolibrary.org/obo/MONDO_0007273 paragangliomas 4 'paragangliomas 4' SubClassOf 'peripheral nervous system cancer' 'paragangliomas 4' SubClassOf 'central nervous system cancer' 'paragangliomas 4' SubClassOf 'hereditary pheochromocytoma-paraganglioma' 'paragangliomas 4' SubClassOf 'Paraganglioma' 'paragangliomas 4' SubClassOf 'Malignant Urinary System Neoplasm' 'paragangliomas 4' SubClassOf 'adrenal gland cancer' http://purl.obolibrary.org/obo/MONDO_0007087 alternating hemiplegia of childhood 1 'alternating hemiplegia of childhood 1' SubClassOf 'alternating hemiplegia of childhood' http://purl.obolibrary.org/obo/MONDO_0007094 amelogenesis imperfecta type 1A 'amelogenesis imperfecta type 1A' SubClassOf 'amelogenesis imperfecta type 1' http://purl.obolibrary.org/obo/MONDO_0012835 systemic lupus erythematosus, susceptibility to, 11 'systemic lupus erythematosus, susceptibility to, 11' SubClassOf 'inherited disease susceptibility' 'systemic lupus erythematosus, susceptibility to, 11' SubClassOf 'predisposes towards' some 'systemic lupus erythematosus' http://purl.obolibrary.org/obo/MONDO_0012848 Meckel syndrome, type 6 'Meckel syndrome, type 6' SubClassOf 'Meckel syndrome' 'Meckel syndrome, type 6' SubClassOf 'polydactyly-syndactyly-triphalangism' http://purl.obolibrary.org/obo/MONDO_0012849 Joubert syndrome 9 'Joubert syndrome 9' SubClassOf 'Joubert syndrome' 'Joubert syndrome 9' SubClassOf 'Joubert syndrome with oculorenal defect' http://purl.obolibrary.org/obo/MONDO_0012878 Cowden syndrome 2 'Cowden syndrome 2' SubClassOf 'Cowden disease' http://purl.obolibrary.org/obo/MONDO_0007919 lymphatic malformation 1 'lymphatic malformation 1' SubClassOf 'lymphatic malformation' http://purl.obolibrary.org/obo/MONDO_0007568 aortic aneurysm, familial thoracic 4 'aortic aneurysm, familial thoracic 4' SubClassOf 'familial thoracic aortic aneurysm and aortic dissection' http://purl.obolibrary.org/obo/MONDO_0013015 Brugada syndrome 5 'Brugada syndrome 5' SubClassOf 'Brugada syndrome' http://purl.obolibrary.org/obo/MONDO_0013087 bronchiectasis with or without elevated sweat chloride 2 'bronchiectasis with or without elevated sweat chloride 2' SubClassOf 'idiopathic bronchiectasis' http://purl.obolibrary.org/obo/MONDO_0013929 autosomal recessive nonsyndromic hearing loss 98 'autosomal recessive nonsyndromic hearing loss 98' SubClassOf 'hearing loss, autosomal recessive' http://purl.obolibrary.org/obo/MONDO_0013498 schizophrenia 15 'schizophrenia 15' SubClassOf 'schizophrenia' 'schizophrenia 15' SubClassOf 'hereditary neurological disease' http://purl.obolibrary.org/obo/MONDO_0013388 developmental and epileptic encephalopathy, 11 'developmental and epileptic encephalopathy, 11' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0013468 retinitis pigmentosa 59 'retinitis pigmentosa 59' SubClassOf 'DHDDS-related syndrome' 'retinitis pigmentosa 59' SubClassOf 'retinitis pigmentosa' 'retinitis pigmentosa 59' SubClassOf 'congenital nervous system disorder' 'retinitis pigmentosa 59' SubClassOf 'DHDDS-CDG' http://purl.obolibrary.org/obo/HP_0100829 Galactorrhea 'Galactorrhea' SubClassOf 'Abnormality of the breast' http://purl.obolibrary.org/obo/HP_0002591 Polyphagia 'Polyphagia' SubClassOf 'Abnormal eating behavior' http://purl.obolibrary.org/obo/PR_000009888 apolipoprotein(a) 'apolipoprotein(a)' SubClassOf 'protein' http://purl.obolibrary.org/obo/MONDO_0008822 arthrogryposis, renal dysfunction, and cholestasis 1 'arthrogryposis, renal dysfunction, and cholestasis 1' SubClassOf 'arthrogryposis-renal dysfunction-cholestasis syndrome' http://purl.obolibrary.org/obo/MONDO_0033717 congenital cerebellar ataxia due to RNU12 mutation 'congenital cerebellar ataxia due to RNU12 mutation' SubClassOf 'autosomal recessive congenital cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0014321 premature ovarian failure 8 'premature ovarian failure 8' SubClassOf 'inherited primary ovarian failure' http://purl.obolibrary.org/obo/MONDO_0014344 congenital heart defects, multiple types, 4 'congenital heart defects, multiple types, 4' SubClassOf 'familial atrioventricular septal defect' 'congenital heart defects, multiple types, 4' SubClassOf 'congenital heart defects, multiple types' http://purl.obolibrary.org/obo/MONDO_0014359 pigmented nodular adrenocortical disease, primary, 4 'pigmented nodular adrenocortical disease, primary, 4' SubClassOf 'primary pigmented nodular adrenocortical disease' http://purl.obolibrary.org/obo/MONDO_0014381 cholestasis, progressive familial intrahepatic, 4 'cholestasis, progressive familial intrahepatic, 4' SubClassOf 'progressive familial intrahepatic cholestasis' http://purl.obolibrary.org/obo/HP_0012764 Orthopnea 'Orthopnea' SubClassOf 'Dyspnea' http://purl.obolibrary.org/obo/MONDO_0014113 cardiofaciocutaneous syndrome 3 'cardiofaciocutaneous syndrome 3' SubClassOf 'cardiofaciocutaneous syndrome' http://purl.obolibrary.org/obo/MONDO_0014112 cardiofaciocutaneous syndrome 2 'cardiofaciocutaneous syndrome 2' SubClassOf 'cardiofaciocutaneous syndrome' http://purl.obolibrary.org/obo/MONDO_0014155 atrial fibrillation, familial, 13 'atrial fibrillation, familial, 13' SubClassOf 'familial atrial fibrillation' http://purl.obolibrary.org/obo/MONDO_0014199 developmental and epileptic encephalopathy, 17 'developmental and epileptic encephalopathy, 17' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0014092 schizophrenia 18 'schizophrenia 18' SubClassOf 'schizophrenia, susceptibility to' http://purl.obolibrary.org/obo/OBA_2051965 amount of apolipoprotein(a) in blood 'amount of apolipoprotein(a) in blood' SubClassOf 'amount' http://purl.obolibrary.org/obo/OBA_2051964 age of onset of isolated dystonia 'age of onset of isolated dystonia' SubClassOf 'age of onset of disease' 'age of onset of isolated dystonia' SubClassOf 'inheres in' some 'isolated dystonia' 'age of onset of isolated dystonia' EquivalentTo 'Onset' and ('inheres in' some 'isolated dystonia') http://purl.obolibrary.org/obo/OBA_2051963 trait in response to gabapentin 'trait in response to gabapentin' SubClassOf 'response to anticonvulsant' http://purl.obolibrary.org/obo/MONDO_0004390 ocular hypotension 'ocular hypotension' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0000479 segmental dystonia 'segmental dystonia' SubClassOf 'dystonic disorder' http://purl.obolibrary.org/obo/MONDO_0014926 Bardet-Biedl syndrome 22 'Bardet-Biedl syndrome 22' SubClassOf 'Bardet-Biedl syndrome' http://purl.obolibrary.org/obo/MONDO_0014840 agammaglobulinemia 8, autosomal dominant 'agammaglobulinemia 8, autosomal dominant' SubClassOf 'autosomal agammaglobulinemia' http://purl.obolibrary.org/obo/MONDO_0014685 progressive myoclonic epilepsy type 9 'progressive myoclonic epilepsy type 9' SubClassOf 'progressive myoclonus epilepsy' http://purl.obolibrary.org/obo/MONDO_0014705 craniosynostosis 6 'craniosynostosis 6' SubClassOf 'isolated oxycephaly' http://purl.obolibrary.org/obo/MONDO_0014565 cataract 43 'cataract 43' SubClassOf 'early-onset non-syndromic cataract' http://purl.obolibrary.org/obo/MONDO_0014627 dystonia 27 'dystonia 27' SubClassOf 'segmental dystonia' 'dystonia 27' SubClassOf 'focal, segmental or multifocal dystonia' http://purl.obolibrary.org/obo/MONDO_0700227 ELOVL4-related maculopathy 'ELOVL4-related maculopathy' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0010822 Warburg micro syndrome 1 'Warburg micro syndrome 1' SubClassOf 'Warburg micro syndrome' http://purl.obolibrary.org/obo/MONDO_8000015 46,XY sex reversal 11 '46,XY sex reversal 11' SubClassOf '46,XY complete gonadal dysgenesis' http://purl.obolibrary.org/obo/MONDO_0010607 heterotaxy, visceral, 1, X-linked 'heterotaxy, visceral, 1, X-linked' SubClassOf 'visceral heterotaxy' http://purl.obolibrary.org/obo/MONDO_0010449 autism, susceptibility to, X-linked 5 'autism, susceptibility to, X-linked 5' SubClassOf 'autism, susceptiblity to' http://purl.obolibrary.org/obo/MONDO_0009454 immunodeficiency-centromeric instability-facial anomalies syndrome 1 'immunodeficiency-centromeric instability-facial anomalies syndrome 1' SubClassOf 'immunodeficiency-centromeric instability-facial anomalies syndrome' http://purl.obolibrary.org/obo/MONDO_0010488 intellectual disability, X-linked 100 'intellectual disability, X-linked 100' SubClassOf 'non-syndromic X-linked intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010238 hearing loss, X-linked 4 'hearing loss, X-linked 4' SubClassOf 'X-linked nonsyndromic hearing loss' http://purl.obolibrary.org/obo/MONDO_0020607 Liddle syndrome 1 'Liddle syndrome 1' SubClassOf 'Liddle syndrome' http://purl.obolibrary.org/obo/MONDO_0011232 migraine, familial hemiplegic, 2 'migraine, familial hemiplegic, 2' SubClassOf 'familial hemiplegic migraine' http://purl.obolibrary.org/obo/MONDO_1010097 DHDDS-related syndrome 'DHDDS-related syndrome' SubClassOf 'hereditary neurological disease' http://purl.obolibrary.org/obo/MONDO_0100028 immune epilepsy 'immune epilepsy' SubClassOf 'epilepsy' http://purl.obolibrary.org/obo/MONDO_0100029 antibody mediated epilepsy 'antibody mediated epilepsy' SubClassOf 'immune epilepsy' http://purl.obolibrary.org/obo/MONDO_0000169 microphthalmia, isolated, with cataract 'microphthalmia, isolated, with cataract' SubClassOf 'isolated microphthalmia' http://purl.obolibrary.org/obo/MONDO_0700249 epidermolytic hyperkeratosis 1 'epidermolytic hyperkeratosis 1' SubClassOf 'epidermolytic ichthyosis' http://purl.obolibrary.org/obo/MONDO_0020727 combined oxidative phosphorylation deficiency 22 'combined oxidative phosphorylation deficiency 22' SubClassOf 'mitochondrial proton-transporting ATP synthase complex deficiency' http://purl.obolibrary.org/obo/MONDO_0020627 epileptic encephalopathy, infantile or early childhood 'epileptic encephalopathy, infantile or early childhood' SubClassOf 'hereditary neurological disease' 'epileptic encephalopathy, infantile or early childhood' SubClassOf 'epilepsy syndrome'