67 72 1 http://www.orpha.net/ORDO/Orphanet_35689 Primary lateral sclerosis 'Primary lateral sclerosis' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_33069 Dravet syndrome 'Dravet syndrome' SubClassOf 'syndromic disease' 'Dravet syndrome' SubClassOf 'disease shares features of' some 'epileptic encephalopathy, early infantile, 6' 'Dravet syndrome' SubClassOf 'infancy electroclinical syndrome' 'Dravet syndrome' SubClassOf 'Early infantile epileptic encephalopathy' 'Dravet syndrome' SubClassOf 'Channelopathy with epilepsy' http://www.ebi.ac.uk/efo/EFO_0000253 amyotrophic lateral sclerosis 'amyotrophic lateral sclerosis' SubClassOf 'neurodegenerative disease' http://www.ebi.ac.uk/efo/EFO_0009117 typhus 'typhus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100120 http://www.ebi.ac.uk/efo/EFO_0009425 Yersinia pestis infectious disease 'Yersinia pestis infectious disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100120 http://purl.obolibrary.org/obo/UBERON_0000411 visual cortex 'visual cortex' SubClassOf 'part of' some 'occipital lobe' 'visual cortex' SubClassOf 'part of' some 'cerebral cortex' 'visual cortex' SubClassOf 'part of' some 'occipital cortex' http://purl.obolibrary.org/obo/HP_0000486 Strabismus 'Strabismus' SubClassOf http://purl.obolibrary.org/obo/HP_0000549 http://www.orpha.net/ORDO/Orphanet_1775 Dyskeratosis congenita 'Dyskeratosis congenita' SubClassOf 'Genetic skin tumor' 'Dyskeratosis congenita' SubClassOf 'congenital anemia' 'Dyskeratosis congenita' SubClassOf 'Malformation syndrome with hamartosis' 'Dyskeratosis congenita' SubClassOf 'Hereditary poikiloderma' 'Dyskeratosis congenita' SubClassOf 'Genetic hyperpigmentation of the skin' 'Dyskeratosis congenita' SubClassOf 'epidermal appendage tumor' 'Dyskeratosis congenita' SubClassOf 'Excretory apparatus of the lacrimal system anomaly' 'Dyskeratosis congenita' SubClassOf 'inherited aplastic anemia' 'Dyskeratosis congenita' SubClassOf 'syndrome with combined immunodeficiency' 'Dyskeratosis congenita' SubClassOf 'hematopoietic and lymphoid system neoplasm' 'Dyskeratosis congenita' SubClassOf 'Conjunctival tumor' 'Dyskeratosis congenita' SubClassOf 'skin neoplasm' 'Dyskeratosis congenita' SubClassOf 'Hereditary poikiloderma' 'Dyskeratosis congenita' SubClassOf 'Malformation syndrome with hamartosis' 'Dyskeratosis congenita' SubClassOf 'Genetic hyperpigmentation of the skin' 'Dyskeratosis congenita' SubClassOf 'Excretory apparatus of the lacrimal system anomaly' 'Dyskeratosis congenita' SubClassOf 'congenital hematological disorder' 'Dyskeratosis congenita' SubClassOf 'Conjunctival tumor' http://www.ebi.ac.uk/efo/EFO_0005224 Q fever 'Q fever' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100120 http://www.ebi.ac.uk/efo/EFO_0005225 human african trypanosomiasis 'human african trypanosomiasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100120 http://purl.obolibrary.org/obo/MONDO_0002429 idiopathic interstitial pneumonia 'idiopathic interstitial pneumonia' SubClassOf 'pneumonitis' http://purl.obolibrary.org/obo/MONDO_0002282 West Nile fever 'West Nile fever' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100120 http://www.ebi.ac.uk/efo/EFO_0005547 dengue disease 'dengue disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100120 http://purl.obolibrary.org/obo/MONDO_0100079 epileptic encephalopathy, early infantile, 6 'epileptic encephalopathy, early infantile, 6' SubClassOf 'Early infantile epileptic encephalopathy' 'epileptic encephalopathy, early infantile, 6' SubClassOf 'disease shares features of' some 'Dravet syndrome' http://www.ebi.ac.uk/efo/EFO_0003106 pneumonia 'pneumonia' SubClassOf 'lung disease' 'pneumonia' SubClassOf 'inflammatory disease' http://www.orpha.net/ORDO/Orphanet_3088 Revesz syndrome 'Revesz syndrome' SubClassOf 'retina neoplasm' 'Revesz syndrome' SubClassOf 'connective tissue neoplasm' http://www.ebi.ac.uk/efo/EFO_1002047 spotted fever 'spotted fever' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100120 http://www.ebi.ac.uk/efo/EFO_0007221 contagious pleuropneumonia 'contagious pleuropneumonia' SubClassOf 'pneumonitis' http://www.ebi.ac.uk/efo/EFO_0007213 Colorado tick fever 'Colorado tick fever' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100120 http://www.ebi.ac.uk/efo/EFO_0007272 filarial elephantiasis 'filarial elephantiasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100120 http://www.ebi.ac.uk/efo/EFO_0007257 eosinophilic pneumonia 'eosinophilic pneumonia' SubClassOf 'pneumonitis' http://www.ebi.ac.uk/efo/EFO_0007256 enzootic pneumonia of calves 'enzootic pneumonia of calves' SubClassOf 'pneumonitis' http://www.ebi.ac.uk/efo/EFO_0007296 hantavirus pulmonary syndrome 'hantavirus pulmonary syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100120 http://www.ebi.ac.uk/efo/EFO_0007184 bronchopneumonia 'bronchopneumonia' SubClassOf 'pneumonitis' http://www.ebi.ac.uk/efo/EFO_0007183 bronchiolitis obliterans 'bronchiolitis obliterans' SubClassOf 'pneumonitis' http://www.ebi.ac.uk/efo/EFO_0007448 pneumocystosis 'pneumocystosis' SubClassOf 'pneumonitis' http://www.ebi.ac.uk/efo/EFO_0007437 Phlebotomus fever 'Phlebotomus fever' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100120 http://purl.obolibrary.org/obo/MONDO_0000188 GLUT1 deficiency syndrome 'GLUT1 deficiency syndrome' SubClassOf 'disease of transporter activity' 'GLUT1 deficiency syndrome' SubClassOf 'Glucose transport disorder' http://www.ebi.ac.uk/efo/EFO_0007461 recurrent pneumonia 'recurrent pneumonia' SubClassOf 'pneumonitis' http://www.orpha.net/ORDO/Orphanet_209341 Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures 'Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures' SubClassOf 'Genetic neurodegenerative disease' http://www.ebi.ac.uk/efo/EFO_0007402 onchocerciasis 'onchocerciasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100120 http://purl.obolibrary.org/obo/MONDO_0000265 aspiration pneumonia (disease) 'aspiration pneumonia (disease)' SubClassOf 'pneumonitis' http://www.ebi.ac.uk/efo/EFO_0007347 listeriosis 'listeriosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100120 http://www.ebi.ac.uk/efo/EFO_0007338 Lassa fever 'Lassa fever' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100120 http://www.ebi.ac.uk/efo/EFO_0007386 Mycobacterium avium complex disease 'Mycobacterium avium complex disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100120 http://www.ebi.ac.uk/efo/EFO_0005044 Leishmaniasis 'Leishmaniasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100120 http://www.ebi.ac.uk/efo/EFO_0007519 trench fever 'trench fever' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100120 http://www.ebi.ac.uk/efo/EFO_0007541 viral pneumonia 'viral pneumonia' SubClassOf 'pneumonitis' http://www.ebi.ac.uk/efo/EFO_0007534 Venezuelan equine encephalitis 'Venezuelan equine encephalitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100120 http://www.orpha.net/ORDO/Orphanet_83420 Proximal spinal muscular atrophy type 4 'Proximal spinal muscular atrophy type 4' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_83419 Proximal spinal muscular atrophy type 3 'Proximal spinal muscular atrophy type 3' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_83418 Proximal spinal muscular atrophy type 2 'Proximal spinal muscular atrophy type 2' SubClassOf 'Genetic neurodegenerative disease' http://www.ebi.ac.uk/efo/EFO_1001321 extrinsic allergic alveolitis 'extrinsic allergic alveolitis' SubClassOf 'pneumonia' http://www.ebi.ac.uk/efo/EFO_1001272 bacterial pneumonia 'bacterial pneumonia' SubClassOf 'pneumonitis' http://www.ebi.ac.uk/efo/EFO_1001445 Tungiasis 'Tungiasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100120 http://www.ebi.ac.uk/efo/EFO_1001444 Tularemia 'Tularemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100120 http://www.ebi.ac.uk/efo/EFO_1001475 schistosomiasis 'schistosomiasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100120 http://www.ebi.ac.uk/efo/EFO_1001411 Radiation Pneumonitis 'Radiation Pneumonitis' SubClassOf 'pneumonia' http://www.ebi.ac.uk/efo/EFO_1001144 rat-bite fever 'rat-bite fever' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100120 http://www.ebi.ac.uk/efo/EFO_1001269 Arbovirus Infections 'Arbovirus Infections' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100120 http://www.orpha.net/ORDO/Orphanet_2116 Hartnup disease 'Hartnup disease' SubClassOf 'disease of transporter activity' http://www.orpha.net/ORDO/Orphanet_71277 Encephalopathy due to GLUT1 deficiency 'Encephalopathy due to GLUT1 deficiency' SubClassOf 'Glucose transport disorder' http://purl.obolibrary.org/obo/HP_0001195 Single umbilical artery 'Single umbilical artery' SubClassOf 'Abnormality of prenatal development or birth' 'Single umbilical artery' SubClassOf http://purl.obolibrary.org/obo/HP_0010881 http://www.ebi.ac.uk/efo/EFO_0001068 malaria 'malaria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100120 http://purl.obolibrary.org/obo/MONDO_0020601 mosquito-borne viral encephalitis 'mosquito-borne viral encephalitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100120 http://www.ebi.ac.uk/efo/EFO_1001991 pneumonitis 'pneumonitis' SubClassOf 'pneumonia' 'pneumonitis' SubClassOf 'respiratory tract infectious disease' http://www.ebi.ac.uk/efo/EFO_0003871 tongue neoplasm 'tongue neoplasm' SubClassOf 'digestive system disease' 'tongue neoplasm' SubClassOf 'head and neck neoplasia' 'tongue neoplasm' SubClassOf 'mouth neoplasm' 'tongue neoplasm' SubClassOf 'head and neck neoplasia' 'tongue neoplasm' SubClassOf 'tongue disease' http://www.ebi.ac.uk/efo/EFO_0003782 motor neuron disease 'motor neuron disease' SubClassOf 'neurodegenerative disease' 'motor neuron disease' SubClassOf 'neurodegenerative disease' http://www.ebi.ac.uk/efo/EFO_1001865 ventilator-associated pneumonia 'ventilator-associated pneumonia' SubClassOf 'pneumonitis' http://www.orpha.net/ORDO/Orphanet_252202 Constitutional mismatch repair deficiency syndrome 'Constitutional mismatch repair deficiency syndrome' SubClassOf 'Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells' 'Constitutional mismatch repair deficiency syndrome' SubClassOf 'DNA repair deficiency' http://www.ebi.ac.uk/efo/EFO_0006792 Lewy body dementia 'Lewy body dementia' SubClassOf 'synucleinopathy' 'Lewy body dementia' SubClassOf 'cognitive disorder' http://www.ebi.ac.uk/efo/EFO_0006799 Lewy body dementia measurement 'Lewy body dementia measurement' SubClassOf 'mental or behavioural disorder biomarker' http://purl.obolibrary.org/obo/MONDO_0013877 mitochondrial pyruvate carrier deficiency 'mitochondrial pyruvate carrier deficiency' SubClassOf 'inborn mitochondrial metabolism disorder' 'mitochondrial pyruvate carrier deficiency' SubClassOf 'congenital nervous system disorder' 'mitochondrial pyruvate carrier deficiency' SubClassOf 'autosomal recessive disease' http://www.ebi.ac.uk/efo/EFO_0008556 Methicillin-Resistant Staphylococcus Aureus Pneumonia 'Methicillin-Resistant Staphylococcus Aureus Pneumonia' SubClassOf 'pneumonitis' http://www.orpha.net/ORDO/Orphanet_88621 Ichthyosis prematurity syndrome 'Ichthyosis prematurity syndrome' SubClassOf 'pneumonia' http://purl.obolibrary.org/obo/MONDO_0001444 Chagas disease 'Chagas disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100120 http://purl.obolibrary.org/obo/MONDO_0025294 tick-borne infectious disease 'tick-borne infectious disease' SubClassOf 'infectious disease' 'tick-borne infectious disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100120 http://purl.obolibrary.org/obo/MONDO_0021506 benign neoplasm of spinal cord 'benign neoplasm of spinal cord' SubClassOf 'spinal cord neoplasm' 'benign neoplasm of spinal cord' SubClassOf 'central nervous system organ benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0021439 benign neoplasm of pituitary gland 'benign neoplasm of pituitary gland' SubClassOf 'bone benign neoplasm' 'benign neoplasm of pituitary gland' SubClassOf 'benign neoplasm of brain' 'benign neoplasm of pituitary gland' SubClassOf 'benign endocrine neoplasm' 'benign neoplasm of pituitary gland' SubClassOf 'pituitary tumor' http://purl.obolibrary.org/obo/MONDO_0021487 benign neoplasm of choroid 'benign neoplasm of choroid' SubClassOf 'benign neoplasm of eye' 'benign neoplasm of choroid' SubClassOf 'choroid neoplasm' 'benign neoplasm of choroid' SubClassOf 'cardiovascular organ benign neoplasm' 'benign neoplasm of choroid' SubClassOf 'neurovascular disease' http://purl.obolibrary.org/obo/MONDO_0021476 benign neoplasm of tongue 'benign neoplasm of tongue' SubClassOf 'tongue neoplasm' 'benign neoplasm of tongue' SubClassOf 'sensory organ benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0021496 benign neoplasm of lip 'benign neoplasm of lip' SubClassOf 'lip neoplasm' 'benign neoplasm of lip' SubClassOf 'integumentary system benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0021340 intertrigo 'intertrigo' SubClassOf 'dermatitis' http://purl.obolibrary.org/obo/MONDO_0008289 brain small vessel disease 1 with or without ocular anomalies 'brain small vessel disease 1 with or without ocular anomalies' SubClassOf 'Familial porencephaly' 'brain small vessel disease 1 with or without ocular anomalies' SubClassOf 'Porencephaly' http://purl.obolibrary.org/obo/HP_0002571 Achalasia 'Achalasia' SubClassOf 'Abnormal peristalsis' http://purl.obolibrary.org/obo/MONDO_0043224 multi-infarct dementia 'multi-infarct dementia' SubClassOf 'vascular dementia' 'multi-infarct dementia' SubClassOf 'cerebral infarction' http://purl.obolibrary.org/obo/HP_0002905 Hyperphosphatemia 'Hyperphosphatemia' SubClassOf 'Abnormal blood phosphate concentration' http://purl.obolibrary.org/obo/MONDO_0008771 amelogenesis imperfecta type 1G 'amelogenesis imperfecta type 1G' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'amelogenesis imperfecta type 1G' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'amelogenesis imperfecta type 1G' SubClassOf 'Amelogenesis imperfecta' http://purl.obolibrary.org/obo/HP_0000559 Corneal scarring 'Corneal scarring' SubClassOf 'Scarring' 'Corneal scarring' SubClassOf 'Corneal opacity' http://purl.obolibrary.org/obo/HP_0000549 Abnormal conjugate eye movement 'Abnormal conjugate eye movement' SubClassOf 'Abnormality of the eye' http://purl.obolibrary.org/obo/MONDO_0002354 benign laryngeal neoplasm 'benign laryngeal neoplasm' SubClassOf 'laryngeal neoplasm' 'benign laryngeal neoplasm' SubClassOf 'respiratory system benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0002246 perichondritis of auricle 'perichondritis of auricle' SubClassOf 'otitis externa' http://purl.obolibrary.org/obo/MONDO_0002278 benign colon neoplasm 'benign colon neoplasm' SubClassOf 'benign neoplasm of large intestine' 'benign colon neoplasm' SubClassOf 'colonic neoplasm' http://purl.obolibrary.org/obo/MONDO_0016785 complete hydatidiform mole 'complete hydatidiform mole' SubClassOf 'Hydatidiform Mole' http://purl.obolibrary.org/obo/MONDO_0002172 otosalpingitis 'otosalpingitis' SubClassOf 'Otitis media' 'otosalpingitis' SubClassOf 'eustachian tube disease' http://purl.obolibrary.org/obo/MONDO_0004800 chronic dacryoadenitis 'chronic dacryoadenitis' SubClassOf 'dacryoadenitis' http://purl.obolibrary.org/obo/MONDO_0004804 dacryoadenitis 'dacryoadenitis' SubClassOf 'inflammatory disease' 'dacryoadenitis' SubClassOf 'disorder of lacrimal gland' http://purl.obolibrary.org/obo/MONDO_0004812 acute dacryoadenitis 'acute dacryoadenitis' SubClassOf 'dacryoadenitis' 'acute dacryoadenitis' SubClassOf 'acute disease' http://purl.obolibrary.org/obo/MONDO_0004640 alcoholic gastritis 'alcoholic gastritis' SubClassOf 'gastritis' http://purl.obolibrary.org/obo/MONDO_0002046 alcohol abuse 'alcohol abuse' SubClassOf 'substance abuse' 'alcohol abuse' SubClassOf 'alcohol-related disorders' http://purl.obolibrary.org/obo/MONDO_0026045 prurigo nodularis 'prurigo nodularis' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0004710 uterus carcinoma in situ 'uterus carcinoma in situ' SubClassOf 'in situ carcinoma' 'uterus carcinoma in situ' SubClassOf 'uterine carcinoma' http://purl.obolibrary.org/obo/MONDO_0004618 diplegia of upper limb 'diplegia of upper limb' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0100120 vector-borne disease 'vector-borne disease' SubClassOf 'infectious disease' http://purl.obolibrary.org/obo/HP_0010881 Abnormality of the umbilical cord 'Abnormality of the umbilical cord' SubClassOf 'Abnormality of prenatal development or birth' http://purl.obolibrary.org/obo/HP_0009736 Tibial pseudarthrosis 'Tibial pseudarthrosis' SubClassOf 'Abnormality of the lower limb' 'Tibial pseudarthrosis' SubClassOf 'Abnormality of skeletal morphology' http://purl.obolibrary.org/obo/MONDO_0000643 vulvar benign neoplasm 'vulvar benign neoplasm' SubClassOf 'vulvar neoplasm' 'vulvar benign neoplasm' SubClassOf 'benign female reproductive system neoplasm' http://purl.obolibrary.org/obo/MONDO_0000647 benign vaginal neoplasm 'benign vaginal neoplasm' SubClassOf 'Vaginal neoplasm' 'benign vaginal neoplasm' SubClassOf 'benign female reproductive system neoplasm' http://purl.obolibrary.org/obo/MONDO_0012676 autosomal recessive osteopetrosis 4 'autosomal recessive osteopetrosis 4' SubClassOf 'Autosomal recessive malignant osteopetrosis' http://purl.obolibrary.org/obo/HP_0009926 Epiphora 'Epiphora' SubClassOf 'Lacrimation abnormality' http://purl.obolibrary.org/obo/MONDO_0024464 pituitary hormone deficiency, combined, 1 'pituitary hormone deficiency, combined, 1' SubClassOf 'Combined pituitary hormone deficiencies, genetic forms' http://www.ebi.ac.uk/efo/EFO_0010731 response to low calorie diet 'response to low calorie diet' SubClassOf 'cellular response to stimulus' http://www.ebi.ac.uk/efo/EFO_0010732 omega-6:omega-3 polyunsaturated fatty acid ratio 'omega-6:omega-3 polyunsaturated fatty acid ratio' SubClassOf 'fatty acid measurement' http://www.ebi.ac.uk/efo/EFO_0010733 polyunsaturated fatty acid measurement 'polyunsaturated fatty acid measurement' SubClassOf 'fatty acid measurement' http://www.ebi.ac.uk/efo/EFO_0010727 vacuum aspiration 'vacuum aspiration' SubClassOf 'collecting specimen from organism' http://www.ebi.ac.uk/efo/EFO_0010728 curettage 'curettage' SubClassOf 'collecting specimen from organism' http://purl.obolibrary.org/obo/MONDO_0014671 neuropathy, hereditary motor and sensory, type 6B 'neuropathy, hereditary motor and sensory, type 6B' SubClassOf 'Hereditary motor and sensory neuropathy type 6' 'neuropathy, hereditary motor and sensory, type 6B' SubClassOf 'motor peripheral neuropathy' http://purl.obolibrary.org/obo/HP_0030369 Induced vaginal delivery 'Induced vaginal delivery' SubClassOf 'Abnormal delivery' http://purl.obolibrary.org/obo/MONDO_0009815 autosomal recessive osteopetrosis 1 'autosomal recessive osteopetrosis 1' SubClassOf 'Autosomal recessive malignant osteopetrosis' http://purl.obolibrary.org/obo/MONDO_0010817 autosomal dominant nonsyndromic deafness 2A 'autosomal dominant nonsyndromic deafness 2A' SubClassOf 'autosomal dominant nonsyndromic deafness' http://purl.obolibrary.org/obo/MONDO_0044202 episodic kinesigenic dyskinesia 'episodic kinesigenic dyskinesia' SubClassOf 'Paroxysmal dyskinesia' http://purl.obolibrary.org/obo/MONDO_0010635 hypogonadotropic hypogonadism 1 with or without anosmia 'hypogonadotropic hypogonadism 1 with or without anosmia' SubClassOf 'Kallmann syndrome' http://purl.obolibrary.org/obo/MONDO_0009652 mucolipidosis type III gamma 'mucolipidosis type III gamma' SubClassOf 'Mucolipidosis type III' http://purl.obolibrary.org/obo/HP_0040269 Blocked Eustachian tube 'Blocked Eustachian tube' SubClassOf 'Abnormal ear morphology' http://purl.obolibrary.org/obo/MONDO_0010555 X-linked chondrodysplasia punctata 1 'X-linked chondrodysplasia punctata 1' SubClassOf 'X-linked dominant chondrodysplasia punctata' 'X-linked chondrodysplasia punctata 1' SubClassOf 'Other metabolic disease' http://purl.obolibrary.org/obo/MONDO_0010372 Clark-Baraitser syndrome 'Clark-Baraitser syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/HP_0025116 Fetal distress 'Fetal distress' SubClassOf 'Abnormality of prenatal development or birth' http://purl.obolibrary.org/obo/MONDO_0012880 hypogonadotropic hypogonadism 5 with or without anosmia 'hypogonadotropic hypogonadism 5 with or without anosmia' SubClassOf 'Kallmann syndrome' http://purl.obolibrary.org/obo/MONDO_0009273 hydatidiform mole, recurrent, 1 'hydatidiform mole, recurrent, 1' SubClassOf 'complete hydatidiform mole' 'hydatidiform mole, recurrent, 1' SubClassOf 'Gestational trophoblastic neoplasm' http://purl.obolibrary.org/obo/MONDO_0010178 congenital bilateral aplasia of vas deferens from CFTR mutation 'congenital bilateral aplasia of vas deferens from CFTR mutation' SubClassOf 'Congenital bilateral absence of vas deferens' http://purl.obolibrary.org/obo/MONDO_0042487 uterine cervix carcinoma in situ 'uterine cervix carcinoma in situ' SubClassOf 'cervical carcinoma' 'uterine cervix carcinoma in situ' SubClassOf 'uterus carcinoma in situ' http://purl.obolibrary.org/obo/MONDO_0007844 hypogonadotropic hypogonadism 2 with or without anosmia 'hypogonadotropic hypogonadism 2 with or without anosmia' SubClassOf 'Kallmann syndrome' http://purl.obolibrary.org/obo/MONDO_0032843 oculopharyngeal myopathy with leukoencephalopathy 1 'oculopharyngeal myopathy with leukoencephalopathy 1' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0020740 ectodermal dysplasia and immunodeficiency 1 'ectodermal dysplasia and immunodeficiency 1' SubClassOf 'Hypohidrotic ectodermal dysplasia with immunodeficiency' http://purl.obolibrary.org/obo/HP_0001788 Premature rupture of membranes 'Premature rupture of membranes' SubClassOf 'Abnormal delivery' http://purl.obolibrary.org/obo/MONDO_0007664 glaucoma 1, open angle, A 'glaucoma 1, open angle, A' SubClassOf 'Juvenile glaucoma' http://purl.obolibrary.org/obo/MONDO_0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant 'ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant' SubClassOf 'Autosomal dominant hypohidrotic ectodermal dysplasia' http://purl.obolibrary.org/obo/MONDO_0007572 primary familial polycythemia due to EPO receptor mutation 'primary familial polycythemia due to EPO receptor mutation' SubClassOf 'Genetic polycythemia' http://purl.obolibrary.org/obo/MONDO_0032594 intellectual developmental disorder and retinitis pigmentosa; IDDRP 'intellectual developmental disorder and retinitis pigmentosa; IDDRP' SubClassOf 'Rare genetic neurological disorder' 'intellectual developmental disorder and retinitis pigmentosa; IDDRP' SubClassOf 'developmental disorder of mental health' 'intellectual developmental disorder and retinitis pigmentosa; IDDRP' SubClassOf 'disease has feature' some 'Retinitis pigmentosa' http://purl.obolibrary.org/obo/MONDO_0007494 episodic kinesigenic dyskinesia 1 'episodic kinesigenic dyskinesia 1' SubClassOf 'episodic kinesigenic dyskinesia' http://purl.obolibrary.org/obo/HP_0011412 Ventouse delivery 'Ventouse delivery' SubClassOf 'Abnormal delivery' http://purl.obolibrary.org/obo/MONDO_0030912 intellectual disability, autosomal dominant 47 'intellectual disability, autosomal dominant 47' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'intellectual disability, autosomal dominant 47' SubClassOf 'Autosomal dominant non-syndromic intellectual disability' 'intellectual disability, autosomal dominant 47' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0030918 intellectual disability, autosomal dominant 52 'intellectual disability, autosomal dominant 52' SubClassOf 'Autosomal dominant non-syndromic intellectual disability' http://purl.obolibrary.org/obo/HP_0011886 Hyphema 'Hyphema' SubClassOf 'Abnormality of the eye' 'Hyphema' SubClassOf 'Abnormal bleeding' 'Hyphema' SubClassOf 'Abnormality of blood circulation' http://purl.obolibrary.org/obo/MONDO_0023297 guttate psoriasis 'guttate psoriasis' SubClassOf 'psoriasis' http://purl.obolibrary.org/obo/MONDO_0001858 Tietze syndrome 'Tietze syndrome' SubClassOf 'joint disease' 'Tietze syndrome' SubClassOf 'syndromic disease' 'Tietze syndrome' SubClassOf 'cartilage disease' http://purl.obolibrary.org/obo/MONDO_0013656 intellectual disability, autosomal dominant 9 'intellectual disability, autosomal dominant 9' SubClassOf 'Autosomal dominant non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0001680 vaginal mullerian papilloma 'vaginal mullerian papilloma' SubClassOf 'benign vaginal neoplasm' 'vaginal mullerian papilloma' EquivalentTo 'benign vaginal neoplasm' and 'vaginal glandular neoplasm' and 'papilloma' 'vaginal mullerian papilloma' SubClassOf 'vaginal glandular neoplasm' 'vaginal mullerian papilloma' SubClassOf 'glandular papilloma' http://purl.obolibrary.org/obo/MONDO_0001583 diabetic polyneuropathy 'diabetic polyneuropathy' SubClassOf 'diabetic nephropathy' 'diabetic polyneuropathy' SubClassOf 'diabetic neuropathy' http://purl.obolibrary.org/obo/MONDO_0100079 epileptic encephalopathy, early infantile, 6 'epileptic encephalopathy, early infantile, 6' SubClassOf 'Early infantile epileptic encephalopathy' 'epileptic encephalopathy, early infantile, 6' SubClassOf 'disease shares features of' some 'Dravet syndrome'