665 61 8 http://www.ebi.ac.uk/efo/EFO_1000237 Endometrial Polyp 'Endometrial Polyp' SubClassOf 'endometrium neoplasm' 'Endometrial Polyp' SubClassOf 'endometrial disease' http://purl.obolibrary.org/obo/HP_0100281 Chronic colitis 'Chronic colitis' SubClassOf 'Abnormality of the large intestine' 'Chronic colitis' SubClassOf 'Inflammation of the large intestine' http://www.ebi.ac.uk/efo/EFO_1000268 Gastric Adenoma 'Gastric Adenoma' SubClassOf 'stomach neoplasm' http://www.ebi.ac.uk/efo/EFO_1000280 Gastrointestinal Hamartoma 'Gastrointestinal Hamartoma' SubClassOf 'digestive system neoplasm' http://www.ebi.ac.uk/efo/EFO_1000299 Hyperplastic Polyp 'Hyperplastic Polyp' SubClassOf 'stomach neoplasm' 'Hyperplastic Polyp' SubClassOf 'colonic neoplasm' 'Hyperplastic Polyp' SubClassOf 'gastrointestinal disease' http://purl.obolibrary.org/obo/HP_0004401 Meconium ileus 'Meconium ileus' SubClassOf 'Abnormality of the intestine' 'Meconium ileus' SubClassOf 'Gastrointestinal dysmotility' http://purl.obolibrary.org/obo/HP_0004367 abnormality of glycoprotein metabolism 'abnormality of glycoprotein metabolism' SubClassOf 'abnormality of metabolism/homeostasis' 'abnormality of glycoprotein metabolism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/HP_0004363 Abnormality of calcium homeostasis 'Abnormality of calcium homeostasis' SubClassOf 'abnormality of metabolism/homeostasis' 'Abnormality of calcium homeostasis' EquivalentTo 'has part' some ('quality' and ('inheres_in' some 'calcium ion homeostasis') and ('has component' some 'abnormal')) 'Abnormality of calcium homeostasis' SubClassOf 'Abnormality of ion homeostasis' http://purl.obolibrary.org/obo/HP_0004378 abnormality of the anus 'abnormality of the anus' SubClassOf 'abnormality of the gastrointestinal tract' 'abnormality of the anus' SubClassOf 'morphological abnormality of the gastrointestinal tract' http://purl.obolibrary.org/obo/HP_0004371 abnormality of glycosaminoglycan metabolism 'abnormality of glycosaminoglycan metabolism' SubClassOf 'abnormality of carbohydrate metabolism/homeostasis' 'abnormality of glycosaminoglycan metabolism' SubClassOf 'abnormality of metabolism/homeostasis' http://purl.obolibrary.org/obo/HP_0004386 gastrointestinal inflammation 'gastrointestinal inflammation' SubClassOf 'abnormality of the gastrointestinal tract' 'gastrointestinal inflammation' SubClassOf 'increased inflammatory response' 'gastrointestinal inflammation' SubClassOf 'Functional abnormality of the gastrointestinal tract' http://purl.obolibrary.org/obo/HP_0031988 muscle spasm 'muscle spasm' SubClassOf 'Abnormality of muscle physiology' 'muscle spasm' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/HP_0004326 cachexia 'cachexia' SubClassOf 'body weight loss' http://www.ebi.ac.uk/efo/EFO_1000184 Colon Inflammatory Polyp 'Colon Inflammatory Polyp' SubClassOf 'colonic neoplasm' http://purl.obolibrary.org/obo/HP_0100309 subdural hemorrhage 'subdural hemorrhage' SubClassOf 'Abnormality of blood circulation' 'subdural hemorrhage' SubClassOf 'Abnormal bleeding' 'subdural hemorrhage' SubClassOf 'abnormality of the cerebral vasculature' http://www.ebi.ac.uk/efo/EFO_1000391 Nasal Cavity Polyp 'Nasal Cavity Polyp' SubClassOf 'nasal cavity neoplasm' 'Nasal Cavity Polyp' SubClassOf 'nasal cavity disease' http://purl.obolibrary.org/obo/HP_0006957 Loss of ability to walk 'Loss of ability to walk' SubClassOf 'Abnormality of nervous system physiology' http://purl.obolibrary.org/obo/UBERON_0002360 meninx 'meninx' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0010743 http://purl.obolibrary.org/obo/MONDO_0021400 polyp of colon 'polyp of colon' SubClassOf 'colonic neoplasm' 'polyp of colon' SubClassOf 'colonic disease' http://purl.obolibrary.org/obo/HP_0006915 Inability to walk by childhood/adolescence 'Inability to walk by childhood/adolescence' SubClassOf 'Abnormality of nervous system physiology' http://purl.obolibrary.org/obo/HP_0031844 Euphoria 'Euphoria' SubClassOf 'behavioral abnormality' 'Euphoria' SubClassOf 'Abnormal emotion/affect behavior' http://purl.obolibrary.org/obo/MONDO_0021416 polyp of gallbladder 'polyp of gallbladder' SubClassOf 'gallbladder neoplasm' 'polyp of gallbladder' SubClassOf 'gallbladder disease' http://purl.obolibrary.org/obo/HP_0004209 Clinodactyly of the 5th finger 'Clinodactyly of the 5th finger' SubClassOf 'Finger clinodactyly' http://purl.obolibrary.org/obo/HP_0004299 Hernia of the abdominal wall 'Hernia of the abdominal wall' SubClassOf 'Abnormality of the digestive system' http://purl.obolibrary.org/obo/HP_0004296 Abnormality of gastrointestinal vasculature 'Abnormality of gastrointestinal vasculature' SubClassOf 'abnormality of the gastrointestinal tract' 'Abnormality of gastrointestinal vasculature' SubClassOf 'morphological abnormality of the gastrointestinal tract' 'Abnormality of gastrointestinal vasculature' SubClassOf 'Abnormality of the vasculature' http://purl.obolibrary.org/obo/HP_0100033 Tics 'Tics' SubClassOf 'Abnormality of nervous system physiology' http://purl.obolibrary.org/obo/HP_0002007 Frontal bossing 'Frontal bossing' SubClassOf 'abnormality of the face' http://www.ebi.ac.uk/efo/EFO_0000662 polyp 'polyp' SubClassOf 'neoplasm' 'polyp' SubClassOf 'cell proliferation disorder' http://purl.obolibrary.org/obo/HP_0002015 Dysphagia 'Dysphagia' SubClassOf 'abnormality of the gastrointestinal tract' 'Dysphagia' SubClassOf 'Abnormality of nervous system physiology' 'Dysphagia' SubClassOf 'Abnormality of esophagus physiology' http://purl.obolibrary.org/obo/HP_0004605 Absent vertebral body mineralization 'Absent vertebral body mineralization' SubClassOf 'Abnormality of skeletal morphology' 'Absent vertebral body mineralization' SubClassOf 'Abnormality of the vertebral column' http://www.ebi.ac.uk/efo/EFO_0009047 Hyperpigmentation of the skin 'Hyperpigmentation of the skin' SubClassOf 'inheres in part of' some 'zone of skin' http://purl.obolibrary.org/obo/MONDO_0021396 polyp of vulva 'polyp of vulva' SubClassOf 'vulvar neoplasm' 'polyp of vulva' SubClassOf 'female reproductive system disease' http://purl.obolibrary.org/obo/MONDO_0021398 polyp of rectum 'polyp of rectum' SubClassOf 'rectal neoplasm' 'polyp of rectum' SubClassOf 'rectal disease' http://purl.obolibrary.org/obo/MONDO_0021392 polyp of large intestine 'polyp of large intestine' SubClassOf 'intestinal neoplasm' http://www.ebi.ac.uk/efo/EFO_1000145 breast fibrosis 'breast fibrosis' SubClassOf 'neoplasm' http://purl.obolibrary.org/obo/HP_0004532 Sacral hypertrichosis 'Sacral hypertrichosis' SubClassOf 'abnormality of the skin' 'Sacral hypertrichosis' SubClassOf 'abnormality of the integument' http://www.ebi.ac.uk/efo/EFO_0000556 ischemia 'ischemia' SubClassOf 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'cardiovascular system')) http://purl.obolibrary.org/obo/HP_0004552 Scarring alopecia of scalp 'Scarring alopecia of scalp' SubClassOf 'Alopecia of scalp' 'Scarring alopecia of scalp' SubClassOf 'Abnormality of skin morphology' 'Scarring alopecia of scalp' SubClassOf 'Abnormality of connective tissue' http://purl.obolibrary.org/obo/HP_0004482 Relative macrocephaly 'Relative macrocephaly' SubClassOf 'Abnormality of skeletal morphology' http://purl.obolibrary.org/obo/HP_0004448 Fulminant hepatic failure 'Fulminant hepatic failure' SubClassOf 'hepatic failure' 'Fulminant hepatic failure' SubClassOf 'Acute hepatic failure' http://purl.obolibrary.org/obo/HP_0004443 Lambdoidal craniosynostosis 'Lambdoidal craniosynostosis' SubClassOf 'Abnormality of skeletal morphology' http://purl.obolibrary.org/obo/MONDO_0008277 stomach polyp 'stomach polyp' SubClassOf 'stomach neoplasm' 'stomach polyp' SubClassOf 'stomach disease' http://purl.obolibrary.org/obo/MONDO_0021239 urethra neoplasm 'urethra neoplasm' SubClassOf 'urethral disease' 'urethra neoplasm' SubClassOf 'urinary system neoplasm' http://www.ebi.ac.uk/efo/EFO_1000091 Appendix Hyperplastic Polyp 'Appendix Hyperplastic Polyp' SubClassOf 'appendiceal neoplasm' 'Appendix Hyperplastic Polyp' SubClassOf 'disorder of appendix' http://purl.obolibrary.org/obo/HP_0100249 calcification of muscles 'calcification of muscles' SubClassOf 'abnormality of the musculature' 'calcification of muscles' SubClassOf 'abnormality of the skeletal system' 'calcification of muscles' SubClassOf 'Abnormality of muscle morphology' http://purl.obolibrary.org/obo/HP_0100256 senile plaques 'senile plaques' SubClassOf 'abnormality of the nervous system' 'senile plaques' SubClassOf 'morphological abnormality of the central nervous system' http://purl.obolibrary.org/obo/MONDO_0045056 grade II meningioma 'grade II meningioma' SubClassOf 'meningioma (disease)' 'grade II meningioma' EquivalentTo 'meningioma (disease)' and ('has modifier' some 'tumor grade 2, general grading system') 'grade II meningioma' SubClassOf 'Meningioma' 'grade II meningioma' EquivalentTo 'Meningioma' and ('has modifier' some 'tumor grade 2, general grading system') http://purl.obolibrary.org/obo/HP_0002221 Absent axillary hair 'Absent axillary hair' SubClassOf 'abnormality of the skin' 'Absent axillary hair' SubClassOf 'abnormality of the integument' http://purl.obolibrary.org/obo/HP_0002236 Frontal upsweep of hair 'Frontal upsweep of hair' SubClassOf 'Abnormal digit morphology' http://purl.obolibrary.org/obo/HP_0002239 gastrointestinal hemorrhage 'gastrointestinal hemorrhage' SubClassOf 'abnormality of the gastrointestinal tract' 'gastrointestinal hemorrhage' SubClassOf 'Functional abnormality of the gastrointestinal tract' 'gastrointestinal hemorrhage' SubClassOf 'Abnormal bleeding' 'gastrointestinal hemorrhage' SubClassOf 'Abnormality of blood circulation' http://purl.obolibrary.org/obo/HP_0002243 Protein-losing enteropathy 'Protein-losing enteropathy' SubClassOf 'Abnormality of the intestine' http://purl.obolibrary.org/obo/HP_0002242 Abnormality of the intestine 'Abnormality of the intestine' EquivalentTo 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'intestine')) 'Abnormality of the intestine' SubClassOf 'abnormality of the gastrointestinal tract' 'Abnormality of the intestine' SubClassOf 'morphological abnormality of the gastrointestinal tract' http://purl.obolibrary.org/obo/HP_0002250 Abnormality of the large intestine 'Abnormality of the large intestine' EquivalentTo 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'large intestine')) http://purl.obolibrary.org/obo/HP_0002251 megacolon 'megacolon' SubClassOf 'abnormality of the gastrointestinal tract' 'megacolon' SubClassOf 'Abnormality of the intestine' 'megacolon' SubClassOf 'abnormality of the nervous system' http://purl.obolibrary.org/obo/HP_0004840 Hypochromic microcytic anemia 'Hypochromic microcytic anemia' SubClassOf 'anemia' 'Hypochromic microcytic anemia' SubClassOf 'Anemia of inadequate production' http://www.ebi.ac.uk/efo/EFO_0010247 incident 'incident' SubClassOf 'clinical modifier' 'incident' SubClassOf http://www.ebi.ac.uk/efo/EFO_0010569 http://www.ebi.ac.uk/efo/EFO_0010274 thoracic aortic artery calcification 'thoracic aortic artery calcification' SubClassOf 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'cardiovascular system')) http://purl.obolibrary.org/obo/HP_0002205 Recurrent respiratory infections 'Recurrent respiratory infections' SubClassOf 'abnormality of the immune system' 'Recurrent respiratory infections' SubClassOf 'recurrent infection' http://purl.obolibrary.org/obo/HP_0002208 Coarse hair 'Coarse hair' SubClassOf 'abnormality of the skin' 'Coarse hair' SubClassOf 'abnormality of the integument' http://purl.obolibrary.org/obo/HP_0100727 Histiocytosis 'Histiocytosis' SubClassOf 'abnormality of blood and blood-forming tissues' 'Histiocytosis' SubClassOf 'abnormal leukocyte morphology' http://purl.obolibrary.org/obo/HP_0002180 neurodegeneration 'neurodegeneration' SubClassOf 'morphological abnormality of the central nervous system' http://purl.obolibrary.org/obo/HP_0100704 Cerebral visual impairment 'Cerebral visual impairment' SubClassOf 'Abnormality of vision' http://purl.obolibrary.org/obo/HP_0002148 Hypophosphatemia 'Hypophosphatemia' SubClassOf 'abnormality of blood and blood-forming tissues' 'Hypophosphatemia' EquivalentTo 'has part' some ('decreased concentration' and ('inheres_in' some ('phosphate' and ('part of' some 'blood'))) and ('has component' some 'abnormal')) http://purl.obolibrary.org/obo/HP_0002141 Gait imbalance 'Gait imbalance' SubClassOf 'Abnormality of nervous system physiology' http://purl.obolibrary.org/obo/MONDO_0011789 familial meningioma 'familial meningioma' EquivalentTo 'meningioma (disease)' and ('has modifier' some 'inherited') 'familial meningioma' SubClassOf 'meningioma (disease)' 'familial meningioma' EquivalentTo 'Meningioma' and ('has modifier' some 'inherited') 'familial meningioma' SubClassOf 'Meningioma' http://purl.obolibrary.org/obo/HP_0100749 chest pain 'chest pain' SubClassOf 'Constitutional symptom' http://purl.obolibrary.org/obo/HP_0002169 Clonus 'Clonus' SubClassOf 'Abnormality of nervous system physiology' http://purl.obolibrary.org/obo/HP_0002167 Neurological speech impairment 'Neurological speech impairment' SubClassOf 'Abnormality of nervous system physiology' http://purl.obolibrary.org/obo/HP_0002162 Low posterior hairline 'Low posterior hairline' SubClassOf 'Abnormal digit morphology' 'Low posterior hairline' SubClassOf 'Abnormality of the neck' 'Low posterior hairline' SubClassOf 'Abnormality of the head' http://purl.obolibrary.org/obo/HP_0002164 Nail dysplasia 'Nail dysplasia' SubClassOf 'Abnormality of skin morphology' http://purl.obolibrary.org/obo/HP_0100755 Abnormality of salivation 'Abnormality of salivation' SubClassOf 'abnormality of metabolism/homeostasis' http://purl.obolibrary.org/obo/MONDO_0021111 ureter neoplasm 'ureter neoplasm' SubClassOf 'urinary system neoplasm' 'ureter neoplasm' SubClassOf 'ureteral disease' http://purl.obolibrary.org/obo/HP_0002172 Postural instability 'Postural instability' SubClassOf 'Abnormality of nervous system physiology' http://purl.obolibrary.org/obo/HP_0100763 abnormality of the lymphatic system 'abnormality of the lymphatic system' SubClassOf 'Abnormality of the vasculature' http://purl.obolibrary.org/obo/MONDO_0021154 dermis disease 'dermis disease' SubClassOf 'integumentary system disease' 'dermis disease' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0060766 anal polyp 'anal polyp' SubClassOf 'anal neoplasm' 'anal polyp' SubClassOf 'anus disease' http://purl.obolibrary.org/obo/HP_0002104 Apnea 'Apnea' SubClassOf 'Abnormality of the respiratory system' 'Apnea' SubClassOf 'Abnormal pattern of respiration' http://purl.obolibrary.org/obo/HP_0002108 spontaneous pneumothorax 'spontaneous pneumothorax' SubClassOf 'Abnormality of the respiratory system' 'spontaneous pneumothorax' SubClassOf 'pneumothorax' http://purl.obolibrary.org/obo/HP_0002109 Abnormality of bronchi 'Abnormality of bronchi' EquivalentTo 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'bronchus')) 'Abnormality of bronchi' SubClassOf 'Abnormality of the respiratory system' 'Abnormality of bronchi' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/HP_0002110 Bronchiectasis 'Bronchiectasis' SubClassOf 'Abnormality of bronchi' 'Bronchiectasis' SubClassOf 'Abnormality of the respiratory system' http://purl.obolibrary.org/obo/HP_0002121 Absence seizure 'Absence seizure' SubClassOf 'Abnormality of nervous system physiology' http://purl.obolibrary.org/obo/HP_0002123 Generalized myoclonic seizures 'Generalized myoclonic seizures' SubClassOf 'Abnormality of nervous system physiology' http://purl.obolibrary.org/obo/HP_0002120 Cerebral cortical atrophy 'Cerebral cortical atrophy' SubClassOf 'abnormality of brain morphology' 'Cerebral cortical atrophy' SubClassOf 'Brain atrophy' http://purl.obolibrary.org/obo/HP_0002136 Broad-based gait 'Broad-based gait' SubClassOf 'Abnormality of nervous system physiology' http://purl.obolibrary.org/obo/HP_0004798 Recurrent infection of the gastrointestinal tract 'Recurrent infection of the gastrointestinal tract' SubClassOf 'abnormality of the gastrointestinal tract' 'Recurrent infection of the gastrointestinal tract' SubClassOf 'Functional abnormality of the gastrointestinal tract' 'Recurrent infection of the gastrointestinal tract' SubClassOf 'recurrent infection' http://purl.obolibrary.org/obo/HP_0004796 gastrointestinal obstruction 'gastrointestinal obstruction' SubClassOf 'abnormality of the gastrointestinal tract' 'gastrointestinal obstruction' SubClassOf 'Functional abnormality of the gastrointestinal tract' http://purl.obolibrary.org/obo/HP_0004755 supraventricular tachycardia 'supraventricular tachycardia' SubClassOf 'Tachycardia' http://www.ebi.ac.uk/efo/EFO_0010059 cerebral microbleeds 'cerebral microbleeds' SubClassOf 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'cardiovascular system')) http://purl.obolibrary.org/obo/HP_0002069 Generalized tonic-clonic seizures 'Generalized tonic-clonic seizures' SubClassOf 'Abnormality of nervous system physiology' http://purl.obolibrary.org/obo/HP_0002068 Neuromuscular dysphagia 'Neuromuscular dysphagia' SubClassOf 'Abnormality of esophagus physiology' 'Neuromuscular dysphagia' SubClassOf 'Abnormality of nervous system physiology' http://purl.obolibrary.org/obo/HP_0002063 Rigidity 'Rigidity' SubClassOf 'Abnormality of nervous system physiology' http://purl.obolibrary.org/obo/HP_0100851 Abnormal emotion/affect behavior 'Abnormal emotion/affect behavior' SubClassOf 'Abnormality of nervous system physiology' http://purl.obolibrary.org/obo/HP_0002079 Hypoplasia of the corpus callosum 'Hypoplasia of the corpus callosum' SubClassOf 'Aplasia/Hypoplasia of the corpus callosum' http://purl.obolibrary.org/obo/HP_0100825 Cheilitis 'Cheilitis' SubClassOf 'abnormality of the mouth' http://purl.obolibrary.org/obo/HP_0002088 abnormality of the lung Abnormal lung morphology 'abnormality of the lung' EquivalentTo 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'lung')) http://purl.obolibrary.org/obo/HP_0002086 Abnormality of the respiratory system 'Abnormality of the respiratory system' EquivalentTo 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'respiratory system')) http://purl.obolibrary.org/obo/HP_0002080 Intention tremor 'Intention tremor' SubClassOf 'Abnormality of nervous system physiology' http://purl.obolibrary.org/obo/HP_0002027 abdominal pain 'abdominal pain' EquivalentTo 'pain in abdomen' 'abdominal pain' SubClassOf 'Abdominal symptom' 'abdominal pain' SubClassOf 'Constitutional symptom' http://purl.obolibrary.org/obo/HP_0002037 Inflammation of the large intestine 'Inflammation of the large intestine' SubClassOf 'Abnormality of the intestine' 'Inflammation of the large intestine' SubClassOf 'Abnormality of the large intestine' http://purl.obolibrary.org/obo/HP_0002033 Poor suck 'Poor suck' SubClassOf 'behavioral abnormality' http://purl.obolibrary.org/obo/HP_0002036 hiatus hernia 'hiatus hernia' SubClassOf 'Abnormality of the digestive system' 'hiatus hernia' SubClassOf 'morphological abnormality of the gastrointestinal tract' http://purl.obolibrary.org/obo/HP_0002035 rectal prolapse 'rectal prolapse' SubClassOf 'abnormality of the gastrointestinal tract' 'rectal prolapse' SubClassOf 'abnormality of the rectum' http://purl.obolibrary.org/obo/HP_0004696 Talipes cavus equinovarus 'Talipes cavus equinovarus' SubClassOf 'Talipes' http://purl.obolibrary.org/obo/HP_0002031 Abnormality of esophagus morphology 'Abnormality of esophagus morphology' SubClassOf 'morphological abnormality of the gastrointestinal tract' http://purl.obolibrary.org/obo/HP_0002043 esophageal stricture 'esophageal stricture' SubClassOf 'Abnormality of esophagus morphology' http://purl.obolibrary.org/obo/HP_0100880 Nephrogenic rest 'Nephrogenic rest' SubClassOf 'abnormal renal physiology' 'Nephrogenic rest' SubClassOf 'Abnormal renal morphology' http://purl.obolibrary.org/obo/MONDO_0021057 classic or attenuated familial adenomatous polyposis 'classic or attenuated familial adenomatous polyposis' SubClassOf 'Genetic digestive tract tumor' 'classic or attenuated familial adenomatous polyposis' SubClassOf 'intestinal neoplasm' http://purl.obolibrary.org/obo/HP_0002465 Poor speech 'Poor speech' SubClassOf 'Neurological speech impairment' http://www.ebi.ac.uk/efo/EFO_0009457 abnormal vascular wound healing 'abnormal vascular wound healing' SubClassOf 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'cardiovascular system')) http://purl.obolibrary.org/obo/HP_0002474 Expressive language delay 'Expressive language delay' SubClassOf 'Delayed speech and language development' http://www.ebi.ac.uk/efo/EFO_0009484 uterine polyp 'uterine polyp' SubClassOf 'tumor of uterus' 'uterine polyp' SubClassOf 'uterine disease' http://www.ebi.ac.uk/efo/EFO_0009478 vocal cord polyp 'vocal cord polyp' SubClassOf 'glottis neoplasm' 'vocal cord polyp' SubClassOf 'laryngeal disease' http://purl.obolibrary.org/obo/HP_0002442 Dyscalculia 'Dyscalculia' SubClassOf 'Abnormality of nervous system physiology' http://purl.obolibrary.org/obo/HP_0002448 Progressive encephalopathy 'Progressive encephalopathy' SubClassOf 'Abnormality of nervous system physiology' http://purl.obolibrary.org/obo/HP_0002385 Paraparesis 'Paraparesis' SubClassOf 'Abnormality of nervous system physiology' 'Paraparesis' SubClassOf 'abnormality of brain morphology' 'Paraparesis' SubClassOf 'abnormality of metabolism/homeostasis' 'Paraparesis' SubClassOf 'Abnormality of central motor function' http://purl.obolibrary.org/obo/HP_0002384 Focal impaired awareness seizure 'Focal impaired awareness seizure' SubClassOf 'Abnormality of nervous system physiology' http://purl.obolibrary.org/obo/HP_0100537 Fasciitis 'Fasciitis' EquivalentTo 'has part' some ('having extra processual parts' and ('inheres_in' some 'connective tissue') and ('towards' some 'inflammation (MPATH)')) 'Fasciitis' SubClassOf 'Abnormality of connective tissue' 'Fasciitis' SubClassOf 'increased inflammatory response' http://www.orpha.net/ORDO/Orphanet_1117 Aplasia cutis - myopia 'Aplasia cutis - myopia' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_1115 Recessive aplasia cutis congenita of limbs 'Recessive aplasia cutis congenita of limbs' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/HP_0002395 Lower limb hyperreflexia 'Lower limb hyperreflexia' SubClassOf 'Abnormality of nervous system physiology' http://purl.obolibrary.org/obo/HP_0100543 cognitive impairment 'cognitive impairment' EquivalentTo 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'cognition')) http://purl.obolibrary.org/obo/HP_0100508 abnormality of vitamin metabolism 'abnormality of vitamin metabolism' EquivalentTo 'has part' some ('quality' and ('inheres_in' some 'vitamin metabolic process') and ('has component' some 'abnormal')) http://purl.obolibrary.org/obo/HP_0100585 Telangiectasia of the skin 'Telangiectasia of the skin' SubClassOf 'Abnormality of skin morphology' http://purl.obolibrary.org/obo/HP_0100595 Camptocormia 'Camptocormia' SubClassOf 'Abnormality of skeletal morphology' 'Camptocormia' SubClassOf 'Abnormality of the vertebral column' http://purl.obolibrary.org/obo/HP_0004933 Ascending aortic dissection 'Ascending aortic dissection' SubClassOf 'Abnormality of the vasculature' 'Ascending aortic dissection' SubClassOf 'Aortic dissection' http://purl.obolibrary.org/obo/HP_0002344 Progressive neurologic deterioration 'Progressive neurologic deterioration' SubClassOf 'Abnormality of nervous system physiology' http://purl.obolibrary.org/obo/HP_0002353 EEG abnormality 'EEG abnormality' SubClassOf 'Abnormality of nervous system physiology' http://purl.obolibrary.org/obo/HP_0002352 Leukoencephalopathy 'Leukoencephalopathy' SubClassOf 'Abnormality of the cerebral white matter' 'Leukoencephalopathy' SubClassOf 'abnormality of brain morphology' http://purl.obolibrary.org/obo/HP_0002355 Difficulty walking 'Difficulty walking' SubClassOf 'gait disturbance' http://www.ebi.ac.uk/efo/EFO_0009354 Anti-influenza A virus IgG measurement 'Anti-influenza A virus IgG measurement' SubClassOf 'is_about' some 'influenza infection' 'Anti-influenza A virus IgG measurement' SubClassOf 'is_about' some 'influenza' 'Anti-influenza A virus IgG measurement' SubClassOf 'infectious disease biomarker' 'Anti-influenza A virus IgG measurement' SubClassOf 'respiratory disease biomarker' http://purl.obolibrary.org/obo/HP_0002378 Hand tremor 'Hand tremor' SubClassOf 'Abnormality of nervous system physiology' http://purl.obolibrary.org/obo/HP_0002376 Developmental regression 'Developmental regression' SubClassOf 'Neurodevelopmental abnormality' http://purl.obolibrary.org/obo/HP_0002373 febrile seizures 'febrile seizures' SubClassOf 'abnormality of the nervous system' 'febrile seizures' SubClassOf 'Seizures' http://purl.obolibrary.org/obo/HP_0002304 Akinesia 'Akinesia' SubClassOf 'abnormality of movement' http://purl.obolibrary.org/obo/HP_0004969 Peripheral pulmonary artery stenosis 'Peripheral pulmonary artery stenosis' SubClassOf 'Abnormality of the cardiovascular system' 'Peripheral pulmonary artery stenosis' SubClassOf 'Abnormality of the vasculature' 'Peripheral pulmonary artery stenosis' SubClassOf 'Abnormality of cardiovascular system morphology' http://purl.obolibrary.org/obo/HP_0002307 Drooling 'Drooling' SubClassOf 'Abnormality of nervous system physiology' http://purl.obolibrary.org/obo/HP_0002313 Spastic paraparesis 'Spastic paraparesis' SubClassOf 'Lower limb spasticity' 'Spastic paraparesis' SubClassOf 'Paraparesis' http://purl.obolibrary.org/obo/HP_0002315 Headache 'Headache' SubClassOf 'abnormality of the nervous system' 'Headache' SubClassOf 'Abnormality of nervous system physiology' http://purl.obolibrary.org/obo/HP_0002317 Unsteady gait 'Unsteady gait' SubClassOf 'Abnormality of nervous system physiology' http://purl.obolibrary.org/obo/HP_0100608 metrorrhagia 'metrorrhagia' SubClassOf 'abnormality of female internal genitalia' http://purl.obolibrary.org/obo/HP_0002269 Abnormality of neuronal migration 'Abnormality of neuronal migration' SubClassOf 'morphological abnormality of the central nervous system' http://purl.obolibrary.org/obo/HP_0002267 Exaggerated startle response 'Exaggerated startle response' SubClassOf 'Abnormality of nervous system physiology' http://purl.obolibrary.org/obo/HP_0100659 abnormality of the cerebral vasculature 'abnormality of the cerebral vasculature' SubClassOf 'abnormality of brain morphology' http://www.orpha.net/ORDO/Orphanet_1003 Scalp defects - postaxial polydactyly 'Scalp defects - postaxial polydactyly' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/HP_0002283 Global brain atrophy 'Global brain atrophy' SubClassOf 'Brain atrophy' http://purl.obolibrary.org/obo/HP_0100633 Esophagitis 'Esophagitis' SubClassOf 'Abnormality of esophagus morphology' http://purl.obolibrary.org/obo/HP_0002290 Poliosis 'Poliosis' SubClassOf 'Hypopigmentation of the skin' 'Poliosis' SubClassOf 'abnormality of the integument' http://purl.obolibrary.org/obo/HP_0100698 Subcutaneous neurofibromas 'Subcutaneous neurofibromas' SubClassOf 'abnormality of the nervous system' 'Subcutaneous neurofibromas' SubClassOf 'abnormality of the skin' http://purl.obolibrary.org/obo/HP_0002617 Dilatation 'Dilatation' SubClassOf 'Abnormality of cardiovascular system morphology' http://purl.obolibrary.org/obo/HP_0002616 Aortic root aneurysm 'Aortic root aneurysm' SubClassOf 'abnormality of the aorta' http://purl.obolibrary.org/obo/HP_0002624 Venous abnormality 'Venous abnormality' SubClassOf 'Abnormality of cardiovascular system morphology' http://purl.obolibrary.org/obo/HP_0002637 Cerebral ischemia 'Cerebral ischemia' SubClassOf 'abnormality of the cerebral vasculature' 'Cerebral ischemia' SubClassOf 'Abnormality of cardiovascular system morphology' http://purl.obolibrary.org/obo/HP_0002647 Aortic dissection 'Aortic dissection' SubClassOf 'Abnormality of the vasculature' 'Aortic dissection' SubClassOf 'abnormality of the aorta' http://purl.obolibrary.org/obo/HP_0002652 Skeletal dysplasia 'Skeletal dysplasia' SubClassOf 'abnormality of the skeletal system' 'Skeletal dysplasia' SubClassOf 'Abnormality of skeletal morphology' http://purl.obolibrary.org/obo/HP_0000044 Hypogonadotrophic hypogonadism 'Hypogonadotrophic hypogonadism' SubClassOf 'abnormality of the genital system' http://purl.obolibrary.org/obo/HP_0000054 Micropenis 'Micropenis' SubClassOf 'abnormality of the genital system' http://purl.obolibrary.org/obo/HP_0012042 aspirin induced asthma 'aspirin induced asthma' SubClassOf 'Abnormality of the respiratory system' http://purl.obolibrary.org/obo/HP_0002659 Increased susceptibility to fractures 'Increased susceptibility to fractures' SubClassOf 'Abnormality of skeletal morphology' 'Increased susceptibility to fractures' SubClassOf 'abnormality of the skeletal system' http://purl.obolibrary.org/obo/HP_0000014 Abnormality of the bladder 'Abnormality of the bladder' EquivalentTo 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'urinary bladder')) http://purl.obolibrary.org/obo/HP_0000020 Urinary incontinence 'Urinary incontinence' SubClassOf 'Constitutional symptom' http://www.ebi.ac.uk/efo/EFO_0004723 coronary artery calcification 'coronary artery calcification' SubClassOf 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'cardiovascular system')) http://purl.obolibrary.org/obo/HP_0002509 Limb hypertonia 'Limb hypertonia' SubClassOf 'Abnormality of nervous system physiology' 'Limb hypertonia' SubClassOf 'Abnormal muscle tone' 'Limb hypertonia' SubClassOf 'Abnormality of muscle morphology' 'Limb hypertonia' SubClassOf 'Hypertonia' 'Limb hypertonia' SubClassOf 'abnormality of limbs' http://purl.obolibrary.org/obo/HP_0002515 Waddling gait 'Waddling gait' SubClassOf 'gait disturbance' http://purl.obolibrary.org/obo/HP_0002597 Abnormality of the vasculature 'Abnormality of the vasculature' EquivalentTo 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'vasculature')) http://purl.obolibrary.org/obo/HP_0002536 Abnormal cortical gyration 'Abnormal cortical gyration' SubClassOf 'Abnormality of neuronal migration' http://purl.obolibrary.org/obo/HP_0002540 Inability to walk 'Inability to walk' SubClassOf 'gait disturbance' http://purl.obolibrary.org/obo/HP_0002555 Absent pubic hair 'Absent pubic hair' SubClassOf 'abnormality of the skin' 'Absent pubic hair' SubClassOf 'abnormality of the integument' http://purl.obolibrary.org/obo/HP_0002573 rectal bleeding 'rectal bleeding' SubClassOf 'abnormality of the gastrointestinal tract' 'rectal bleeding' SubClassOf 'gastrointestinal hemorrhage' 'rectal bleeding' SubClassOf 'diarrhea' http://purl.obolibrary.org/obo/HP_0002575 Tracheoesophageal fistula 'Tracheoesophageal fistula' SubClassOf 'Abnormality of the respiratory system' http://purl.obolibrary.org/obo/HP_0002574 Episodic abdominal pain 'Episodic abdominal pain' SubClassOf 'pain in abdomen' http://purl.obolibrary.org/obo/HP_0000201 Pierre-Robin sequence 'Pierre-Robin sequence' SubClassOf 'cleft palate' 'Pierre-Robin sequence' SubClassOf 'Micrognathia' 'Pierre-Robin sequence' SubClassOf 'abnormality of the mouth' http://purl.obolibrary.org/obo/HP_0000219 Thin upper lip vermilion 'Thin upper lip vermilion' SubClassOf 'Thin vermilion border' http://purl.obolibrary.org/obo/HP_0000225 Gingival bleeding 'Gingival bleeding' EquivalentTo 'has part' some ('increased amount' and ('inheres_in' some ('hemorrhage' and ('part of' some 'gingiva'))) and ('has component' some 'abnormal')) 'Gingival bleeding' SubClassOf 'Abnormal bleeding' http://purl.obolibrary.org/obo/HP_0012211 abnormal renal physiology 'abnormal renal physiology' SubClassOf 'abnormality of the kidney' http://purl.obolibrary.org/obo/HP_0000236 Abnormality of the anterior fontanelle 'Abnormality of the anterior fontanelle' SubClassOf 'Abnormality of skeletal morphology' http://purl.obolibrary.org/obo/HP_0012207 Reduced sperm motility 'Reduced sperm motility' SubClassOf 'abnormality of male internal genitalia' 'Reduced sperm motility' SubClassOf 'abnormality of the genital system' http://purl.obolibrary.org/obo/HP_0002829 arthralgia 'arthralgia' SubClassOf 'abnormality of the skeletal system' 'arthralgia' SubClassOf 'Constitutional symptom' http://purl.obolibrary.org/obo/HP_0002840 lymphadenitis 'lymphadenitis' SubClassOf 'increased inflammatory response' http://purl.obolibrary.org/obo/HP_0012262 Abnormal ciliary motility 'Abnormal ciliary motility' SubClassOf 'abnormality of metabolism/homeostasis' 'Abnormal ciliary motility' SubClassOf 'Abnormality of the respiratory system' http://purl.obolibrary.org/obo/HP_0000280 Coarse facial features 'Coarse facial features' SubClassOf 'abnormality of the face' 'Coarse facial features' SubClassOf 'abnormal facial shape' http://purl.obolibrary.org/obo/HP_0000282 Facial edema 'Facial edema' SubClassOf 'abnormality of metabolism/homeostasis' http://purl.obolibrary.org/obo/HP_0000283 Broad face 'Broad face' SubClassOf 'abnormality of the face' 'Broad face' SubClassOf 'abnormal facial shape' http://purl.obolibrary.org/obo/HP_0012278 Abnormal circulating serine concentration 'Abnormal circulating serine concentration' SubClassOf 'abnormality of metabolism/homeostasis' 'Abnormal circulating serine concentration' SubClassOf 'Abnormality of carboxylic acid metabolism' http://purl.obolibrary.org/obo/HP_0000294 Low anterior hairline 'Low anterior hairline' SubClassOf 'abnormality of the face' http://purl.obolibrary.org/obo/HP_0000238 Hydrocephalus 'Hydrocephalus' SubClassOf 'abnormality of the cerebrospinal fluid' http://purl.obolibrary.org/obo/HP_0012234 agranulocytosis 'agranulocytosis' SubClassOf 'abnormality of the immune system' 'agranulocytosis' EquivalentTo 'has part' some ('decreased concentration' and ('inheres_in' some 'granulocyte') and ('has component' some 'abnormal')) 'agranulocytosis' SubClassOf 'abnormal leukocyte morphology' http://purl.obolibrary.org/obo/HP_0000252 Microcephaly 'Microcephaly' SubClassOf 'abnormality of the skeletal system' 'Microcephaly' SubClassOf 'abnormality of brain morphology' 'Microcephaly' SubClassOf 'Abnormality of the skull' http://purl.obolibrary.org/obo/HP_0000269 Prominent occiput 'Prominent occiput' SubClassOf 'abnormality of the face' 'Prominent occiput' SubClassOf 'Abnormality of skeletal morphology' http://purl.obolibrary.org/obo/HP_0000278 Retrognathia 'Retrognathia' SubClassOf 'Abnormality of skeletal morphology' http://purl.obolibrary.org/obo/HP_0000276 Long face 'Long face' SubClassOf 'abnormality of the face' 'Long face' SubClassOf 'abnormal facial shape' http://purl.obolibrary.org/obo/HP_0000272 Malar flattening 'Malar flattening' SubClassOf 'abnormality of the face' http://purl.obolibrary.org/obo/HP_0012194 Episodic hemiplegia 'Episodic hemiplegia' SubClassOf 'abnormality of metabolism/homeostasis' 'Episodic hemiplegia' SubClassOf 'abnormality of brain morphology' 'Episodic hemiplegia' SubClassOf 'Abnormality of nervous system physiology' http://www.orpha.net/ORDO/Orphanet_228215 Genetic dermis elastic tissue disorder 'Genetic dermis elastic tissue disorder' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_363314 Genetic intestinal polyposis 'Genetic intestinal polyposis' SubClassOf 'Genetic digestive tract tumor' 'Genetic intestinal polyposis' SubClassOf 'intestinal neoplasm' 'Genetic intestinal polyposis' SubClassOf 'has modifier' some 'rare' 'Genetic intestinal polyposis' SubClassOf 'intestinal disease' http://purl.obolibrary.org/obo/HP_0002808 Kyphosis 'Kyphosis' SubClassOf 'Abnormality of skeletal morphology' 'Kyphosis' SubClassOf 'Abnormality of the vertebral column' http://purl.obolibrary.org/obo/HP_0002747 Respiratory insufficiency due to muscle weakness 'Respiratory insufficiency due to muscle weakness' SubClassOf 'Respiratory insufficiency' http://purl.obolibrary.org/obo/HP_0000103 polyuria 'polyuria' EquivalentTo 'has part' some ('increased rate' and ('inheres_in' some 'micturition')) 'polyuria' SubClassOf 'abnormal renal physiology' 'polyuria' SubClassOf 'Abnormal urine output' http://purl.obolibrary.org/obo/HP_0000107 Renal cyst 'Renal cyst' SubClassOf 'Abnormal renal morphology' http://purl.obolibrary.org/obo/HP_0000111 Renal juxtaglomerular cell hypertrophy/hyperplasia 'Renal juxtaglomerular cell hypertrophy/hyperplasia' SubClassOf 'abnormality of the kidney' 'Renal juxtaglomerular cell hypertrophy/hyperplasia' SubClassOf 'Abnormal renal cortex morphology' http://purl.obolibrary.org/obo/HP_0000164 Abnormality of the dentition 'Abnormality of the dentition' SubClassOf 'abnormality of the skeletal system' http://purl.obolibrary.org/obo/HP_0000161 Median cleft lip 'Median cleft lip' SubClassOf 'Abnormality of mouth shape' http://purl.obolibrary.org/obo/HP_0000179 Thick lower lip vermilion 'Thick lower lip vermilion' SubClassOf 'Thick vermilion border' http://www.orpha.net/ORDO/Orphanet_399391 Osteochondrosis of genetic origin 'Osteochondrosis of genetic origin' EquivalentTo 'Osteochondrosis' and ('has modifier' some 'inherited') 'Osteochondrosis of genetic origin' SubClassOf 'Osteochondrosis' http://purl.obolibrary.org/obo/HP_0002788 Recurrent upper respiratory tract infections 'Recurrent upper respiratory tract infections' SubClassOf 'Abnormality of the digestive system' http://purl.obolibrary.org/obo/HP_0012115 hepatitis 'hepatitis' EquivalentTo 'has part' some ('increased rate' and ('inheres_in' some ('inflammatory response' and ('part of' some 'liver'))) and ('has component' some 'abnormal')) 'hepatitis' SubClassOf 'Abnormality of the endocrine system' 'hepatitis' SubClassOf 'increased inflammatory response' http://purl.obolibrary.org/obo/HP_0000132 Menorrhagia 'Menorrhagia' SubClassOf 'abnormality of blood and blood-forming tissues' 'Menorrhagia' SubClassOf 'Abnormal bleeding' 'Menorrhagia' SubClassOf 'Abnormality of the endocrine system' 'Menorrhagia' SubClassOf 'abnormality of female internal genitalia' http://purl.obolibrary.org/obo/HP_0000153 abnormality of the mouth 'abnormality of the mouth' EquivalentTo 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'mouth')) http://www.ebi.ac.uk/efo/EFO_0004859 abdominal aortic artery calcification 'abdominal aortic artery calcification' SubClassOf 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'cardiovascular system')) http://www.ebi.ac.uk/efo/EFO_1000911 dystocia 'dystocia' SubClassOf 'reproductive system disease' 'dystocia' SubClassOf 'pregnancy disorder' 'dystocia' SubClassOf 'pregnancy disorder' http://www.ebi.ac.uk/efo/EFO_1000938 fibromuscular dysplasia 'fibromuscular dysplasia' SubClassOf 'cardiovascular disease' 'fibromuscular dysplasia' SubClassOf 'genetic disorder' 'fibromuscular dysplasia' SubClassOf 'arterial disorder' http://purl.obolibrary.org/obo/HP_0012076 Borderline personality disorder 'Borderline personality disorder' SubClassOf 'behavioral abnormality' 'Borderline personality disorder' SubClassOf 'personality disorder' http://purl.obolibrary.org/obo/HP_0000093 Proteinuria 'Proteinuria' EquivalentTo 'has part' some ('increased concentration' and ('inheres_in' some ('protein' and ('part of' some 'urine'))) and ('has component' some 'abnormal')) http://purl.obolibrary.org/obo/HP_0012098 Edema of the dorsum of feet 'Edema of the dorsum of feet' SubClassOf 'abnormality of limbs' 'Edema of the dorsum of feet' SubClassOf 'abnormality of the lower limb' http://www.ebi.ac.uk/efo/EFO_1000971 hyperemesis gravidarum 'hyperemesis gravidarum' SubClassOf 'pregnancy disorder' 'hyperemesis gravidarum' SubClassOf 'reproductive system disease' 'hyperemesis gravidarum' SubClassOf 'pregnancy disorder' http://purl.obolibrary.org/obo/HP_0012424 chorioretinitis 'chorioretinitis' SubClassOf 'Abnormality of the eye' 'chorioretinitis' SubClassOf 'Abnormal choroid morphology' 'chorioretinitis' SubClassOf 'Abnormal retinal morphology' http://purl.obolibrary.org/obo/HP_0012443 abnormality of brain morphology 'abnormality of brain morphology' SubClassOf 'morphological abnormality of the central nervous system' http://purl.obolibrary.org/obo/HP_0012438 Abnormal gallbladder physiology 'Abnormal gallbladder physiology' SubClassOf 'Abnormality of the abdominal organs' 'Abnormal gallbladder physiology' SubClassOf 'Abnormality of the liver' http://purl.obolibrary.org/obo/HP_0000478 Abnormality of the eye 'Abnormality of the eye' SubClassOf 'abnormality of the face' 'Abnormality of the eye' EquivalentTo 'has part' some ('quality' and ('inheres_in' some 'eyeball of camera-type eye') and ('has component' some 'abnormal')) 'Abnormality of the eye' SubClassOf 'Phenotypic abnormality' http://purl.obolibrary.org/obo/HP_0000473 Torticollis 'Torticollis' SubClassOf 'Dystonia' 'Torticollis' SubClassOf 'Abnormality of central motor function' 'Torticollis' SubClassOf 'Abnormality of muscle morphology' http://purl.obolibrary.org/obo/HP_0012448 Delayed myelination 'Delayed myelination' SubClassOf 'Abnormal myelination' http://purl.obolibrary.org/obo/HP_0000470 Short neck 'Short neck' SubClassOf 'Abnormality of skeletal morphology' 'Short neck' SubClassOf 'Abnormality of the cervical spine' http://purl.obolibrary.org/obo/HP_0000407 Sensorineural hearing impairment 'Sensorineural hearing impairment' SubClassOf 'Abnormality of the inner ear' http://purl.obolibrary.org/obo/HP_0000408 Progressive sensorineural hearing impairment 'Progressive sensorineural hearing impairment' SubClassOf 'Progressive hearing impairment' http://purl.obolibrary.org/obo/HP_0000430 Underdeveloped nasal alae 'Underdeveloped nasal alae' SubClassOf 'abnormality of the skeletal system' 'Underdeveloped nasal alae' SubClassOf 'Abnormality of connective tissue' http://www.ebi.ac.uk/efo/EFO_0002608 AIDS dementia 'AIDS dementia' SubClassOf 'inheres_in' some 'brain' http://purl.obolibrary.org/obo/HP_0000479 Abnormal retinal morphology 'Abnormal retinal morphology' SubClassOf 'Abnormality of the eye' 'Abnormal retinal morphology' SubClassOf 'abnormal morphology of the posterior segment of the globe' http://purl.obolibrary.org/obo/HP_0012470 Setting-sun eye phenomenon 'Setting-sun eye phenomenon' SubClassOf 'behavioral abnormality' http://www.ebi.ac.uk/efo/EFO_1000609 Ureter Carcinoma 'Ureter Carcinoma' SubClassOf 'ureteral neoplasm' http://purl.obolibrary.org/obo/HP_0000319 Smooth philtrum 'Smooth philtrum' SubClassOf 'Abnormality of mouth shape' 'Smooth philtrum' SubClassOf 'abnormality of the mouth' http://purl.obolibrary.org/obo/HP_0002979 Bowing of the legs 'Bowing of the legs' SubClassOf 'Abnormality of skeletal morphology' 'Bowing of the legs' SubClassOf 'abnormality of limbs' 'Bowing of the legs' SubClassOf 'Bowing of the long bones' 'Bowing of the legs' SubClassOf 'abnormality of the lower limb' http://purl.obolibrary.org/obo/HP_0002986 Radial bowing 'Radial bowing' SubClassOf 'Abnormality of skeletal morphology' 'Radial bowing' SubClassOf 'Bowing of the long bones' http://purl.obolibrary.org/obo/HP_0002980 Femoral bowing 'Femoral bowing' SubClassOf 'Bowing of the legs' http://purl.obolibrary.org/obo/HP_0000325 Triangular face 'Triangular face' SubClassOf 'abnormality of the face' 'Triangular face' SubClassOf 'abnormal facial shape' http://purl.obolibrary.org/obo/HP_0002987 Elbow flexion contracture 'Elbow flexion contracture' SubClassOf 'Limb joint contracture' 'Elbow flexion contracture' SubClassOf 'Abnormality of upper limb joint' http://purl.obolibrary.org/obo/HP_0000327 Hypoplasia of the maxilla 'Hypoplasia of the maxilla' SubClassOf 'Abnormality of skeletal morphology' 'Hypoplasia of the maxilla' SubClassOf 'abnormality of the mouth' http://purl.obolibrary.org/obo/HP_0000331 Short chin 'Short chin' SubClassOf 'abnormality of the mouth' 'Short chin' SubClassOf 'abnormality of the face' http://purl.obolibrary.org/obo/HP_0012304 Hypoplastic aortic arch 'Hypoplastic aortic arch' SubClassOf 'Abnormality of the vasculature' 'Hypoplastic aortic arch' SubClassOf 'abnormality of the aorta' http://purl.obolibrary.org/obo/HP_0000356 Abnormality of the outer ear 'Abnormality of the outer ear' EquivalentTo 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'external ear')) http://purl.obolibrary.org/obo/HP_0002938 Lumbar hyperlordosis 'Lumbar hyperlordosis' SubClassOf 'Abnormality of skeletal morphology' 'Lumbar hyperlordosis' SubClassOf 'Abnormality of the vertebral column' http://purl.obolibrary.org/obo/HP_0002944 Thoracolumbar scoliosis 'Thoracolumbar scoliosis' SubClassOf 'Abnormality of the vertebral column' http://purl.obolibrary.org/obo/HP_0002943 Thoracic scoliosis 'Thoracic scoliosis' SubClassOf 'Abnormality of skeletal morphology' 'Thoracic scoliosis' SubClassOf 'Abnormality of the vertebral column' 'Thoracic scoliosis' SubClassOf 'abnormality of the thorax' http://www.orpha.net/ORDO/Orphanet_70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 'Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type' SubClassOf 'Leigh syndrome' 'Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type' SubClassOf 'Leigh disease' 'Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type' SubClassOf 'Leigh syndrome' http://www.orpha.net/ORDO/Orphanet_70474 Leigh syndrome with cardiomyopathy 'Leigh syndrome with cardiomyopathy' SubClassOf 'Leigh syndrome' 'Leigh syndrome with cardiomyopathy' SubClassOf 'Leigh syndrome' http://purl.obolibrary.org/obo/HP_0000307 Pointed chin 'Pointed chin' SubClassOf 'Abnormality of mouth shape' 'Pointed chin' SubClassOf 'abnormality of the face' http://purl.obolibrary.org/obo/HP_0000303 Mandibular prognathia 'Mandibular prognathia' SubClassOf 'Abnormality of skeletal morphology' 'Mandibular prognathia' SubClassOf 'abnormality of the face' http://purl.obolibrary.org/obo/HP_0000311 Round face 'Round face' SubClassOf 'abnormality of the face' 'Round face' SubClassOf 'abnormal facial shape' http://purl.obolibrary.org/obo/HP_0012389 Appendicular hypotonia 'Appendicular hypotonia' SubClassOf 'Abnormal muscle tone' http://purl.obolibrary.org/obo/HP_0000359 Abnormality of the inner ear 'Abnormality of the inner ear' EquivalentTo 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'internal ear')) http://www.ebi.ac.uk/efo/EFO_1000782 altitude sickness 'altitude sickness' SubClassOf 'respiratory system disease' 'altitude sickness' SubClassOf 'cardiovascular disease' 'altitude sickness' SubClassOf 'respiratory system disease' http://purl.obolibrary.org/obo/HP_0000366 abnormality of the nose 'abnormality of the nose' EquivalentTo 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'nose')) http://purl.obolibrary.org/obo/HP_0000368 Low-set, posteriorly rotated ears 'Low-set, posteriorly rotated ears' SubClassOf 'Low-set ears' http://purl.obolibrary.org/obo/HP_0000364 Hearing abnormality 'Hearing abnormality' EquivalentTo 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'sensory perception of sound')) http://purl.obolibrary.org/obo/HP_0000384 Preauricular skin tag 'Preauricular skin tag' SubClassOf 'Abnormality of skin morphology' http://purl.obolibrary.org/obo/HP_0012378 fatigue 'fatigue' SubClassOf 'Constitutional symptom' http://www.ebi.ac.uk/efo/EFO_1000700 fibroepithelial polyp of urethra 'fibroepithelial polyp of urethra' SubClassOf 'urethra neoplasm' 'fibroepithelial polyp of urethra' SubClassOf 'urethral disease' http://purl.obolibrary.org/obo/HP_0002900 hypokalemia 'hypokalemia' EquivalentTo 'has part' some ('decreased concentration' and ('inheres_in' some ('potassium' and ('part of' some 'blood'))) and ('has component' some 'abnormal')) 'hypokalemia' SubClassOf 'abnormality of blood and blood-forming tissues' http://purl.obolibrary.org/obo/HP_0002901 Hypocalcemia 'Hypocalcemia' EquivalentTo 'has part' some ('decreased concentration' and ('inheres_in' some 'blood') and ('towards' some 'calcium')) http://purl.obolibrary.org/obo/HP_0012664 Reduced ejection fraction 'Reduced ejection fraction' SubClassOf 'Abnormality of cardiovascular system morphology' 'Reduced ejection fraction' SubClassOf 'Abnormal cardiovascular system physiology' http://purl.obolibrary.org/obo/HP_0000682 Abnormality of dental enamel 'Abnormality of dental enamel' SubClassOf 'Abnormality of the dentition' 'Abnormality of dental enamel' SubClassOf 'Abnormality of connective tissue' 'Abnormality of dental enamel' SubClassOf 'abnormality of the skeletal system' http://purl.obolibrary.org/obo/HP_0009027 Foot dorsiflexor weakness 'Foot dorsiflexor weakness' SubClassOf 'abnormality of the foot' 'Foot dorsiflexor weakness' SubClassOf 'Limb muscle weakness' http://purl.obolibrary.org/obo/HP_0009028 Generalized weakness of limb muscles 'Generalized weakness of limb muscles' SubClassOf 'Limb-girdle muscle weakness' 'Generalized weakness of limb muscles' SubClassOf 'Limb muscle weakness' 'Generalized weakness of limb muscles' SubClassOf 'Abnormality of muscle morphology' 'Generalized weakness of limb muscles' SubClassOf 'abnormality of limbs' http://purl.obolibrary.org/obo/HP_0009020 Exercise-induced muscle fatigue 'Exercise-induced muscle fatigue' SubClassOf 'Muscle weakness' 'Exercise-induced muscle fatigue' SubClassOf 'Abnormality of muscle physiology' http://purl.obolibrary.org/obo/HP_0009049 Peroneal muscle atrophy 'Peroneal muscle atrophy' SubClassOf 'abnormality of limbs' 'Peroneal muscle atrophy' SubClassOf 'abnormality of the lower limb' http://purl.obolibrary.org/obo/HP_0000639 Nystagmus 'Nystagmus' SubClassOf 'Abnormality of the inner ear' 'Nystagmus' SubClassOf 'Abnormality of the eye' http://purl.obolibrary.org/obo/HP_0000664 Synophrys 'Synophrys' SubClassOf 'abnormality of the integument' http://purl.obolibrary.org/obo/HP_0009053 Distal lower limb Muscle weakness 'Distal lower limb Muscle weakness' SubClassOf 'abnormality of the lower limb' 'Distal lower limb Muscle weakness' SubClassOf 'Lower limb Muscle weakness' http://purl.obolibrary.org/obo/HP_0010059 Broad hallux phalanx 'Broad hallux phalanx' SubClassOf 'abnormality of the foot' http://purl.obolibrary.org/obo/HP_0010049 Short metacarpal 'Short metacarpal' SubClassOf 'Abnormality of skeletal morphology' http://purl.obolibrary.org/obo/HP_0000610 Abnormal choroid morphology 'Abnormal choroid morphology' SubClassOf 'Abnormality of the vasculature' 'Abnormal choroid morphology' SubClassOf 'Abnormality of the eye' 'Abnormal choroid morphology' SubClassOf 'abnormal morphology of the posterior segment of the globe' http://purl.obolibrary.org/obo/HP_0000618 Blindness 'Blindness' SubClassOf 'Reduced visual acuity' http://purl.obolibrary.org/obo/HP_0000622 Blurred vision 'Blurred vision' SubClassOf 'Abnormality of the eye' 'Blurred vision' SubClassOf 'Abnormality of vision' http://purl.obolibrary.org/obo/HP_0000572 Visual loss 'Visual loss' SubClassOf 'Abnormality of vision' http://purl.obolibrary.org/obo/HP_0000598 Abnormality of the ear 'Abnormality of the ear' EquivalentTo 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'ear')) http://purl.obolibrary.org/obo/HP_0000527 Long eyelashes 'Long eyelashes' SubClassOf 'abnormality of the face' http://purl.obolibrary.org/obo/HP_0000529 Progressive visual loss 'Progressive visual loss' SubClassOf 'Visual loss' http://purl.obolibrary.org/obo/HP_0012520 Perivascular spaces 'Perivascular spaces' SubClassOf 'Abnormality of the cardiovascular system' 'Perivascular spaces' SubClassOf 'abnormality of brain morphology' 'Perivascular spaces' SubClassOf 'abnormality of the cerebral vasculature' http://purl.obolibrary.org/obo/HP_0000535 Sparse and thin eyebrow 'Sparse and thin eyebrow' SubClassOf 'abnormality of the integument' http://purl.obolibrary.org/obo/HP_0000540 hypermetropia 'hypermetropia' SubClassOf 'Abnormality of the eye' 'hypermetropia' SubClassOf 'Abnormality of refraction' http://purl.obolibrary.org/obo/HP_0012514 lower limb pain 'lower limb pain' SubClassOf 'pain' 'lower limb pain' SubClassOf 'Limb pain' http://purl.obolibrary.org/obo/HP_0012532 chronic pain 'chronic pain' SubClassOf 'Constitutional symptom' http://purl.obolibrary.org/obo/MONDO_0008627 ureter cancer 'ureter cancer' SubClassOf 'ureter neoplasm' 'ureter cancer' SubClassOf 'ureteral neoplasm' http://www.ebi.ac.uk/efo/EFO_0002687 ischemia reperfusion injury 'ischemia reperfusion injury' SubClassOf 'cardiovascular disease' 'ischemia reperfusion injury' SubClassOf 'injury' http://purl.obolibrary.org/obo/HP_0000505 Visual impairment 'Visual impairment' SubClassOf 'Abnormality of vision' http://www.ebi.ac.uk/efo/EFO_0005262 mitral annular calcification 'mitral annular calcification' SubClassOf 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'cardiovascular system')) http://www.ebi.ac.uk/efo/EFO_0005251 hypotension 'hypotension' SubClassOf 'arterial disorder' 'hypotension' SubClassOf 'cardiovascular disease' 'hypotension' SubClassOf 'arterial disorder' http://purl.obolibrary.org/obo/MONDO_0002353 glottis neoplasm 'glottis neoplasm' SubClassOf 'laryngeal neoplasm' http://purl.obolibrary.org/obo/HP_0000892 Bifid ribs 'Bifid ribs' SubClassOf 'Abnormality of skeletal morphology' 'Bifid ribs' SubClassOf 'abnormality of the thorax' http://purl.obolibrary.org/obo/HP_0000833 Glucose intolerance 'Glucose intolerance' SubClassOf 'abnormal glucose tolerance' 'Glucose intolerance' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/HP_0000842 Hyperinsulinemia 'Hyperinsulinemia' SubClassOf 'Abnormal glucose homeostasis' http://purl.obolibrary.org/obo/HP_0012823 clinical modifier 'clinical modifier' SubClassOf 'quality' 'clinical modifier' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/HP_0000857 Neonatal insulin-dependent diabetes mellitus 'Neonatal insulin-dependent diabetes mellitus' SubClassOf http://purl.obolibrary.org/obo/HP_0001952 'Neonatal insulin-dependent diabetes mellitus' SubClassOf 'Abnormality of the endocrine system' http://purl.obolibrary.org/obo/HP_0000863 Central diabetes insipidus 'Central diabetes insipidus' SubClassOf 'abnormality of brain morphology' http://purl.obolibrary.org/obo/MONDO_0002436 nose disease 'nose disease' SubClassOf 'otorhinolaryngologic disease' http://purl.obolibrary.org/obo/HP_0000800 Cystic renal dysplasia 'Cystic renal dysplasia' SubClassOf 'Abnormal renal morphology' http://www.ebi.ac.uk/efo/EFO_0007879 petaloid toenail 'petaloid toenail' SubClassOf 'has part' some ('quality' and ('inheres_in' some 'nail') and ('has component' some 'abnormal')) http://purl.obolibrary.org/obo/HP_0000817 Poor eye contact 'Poor eye contact' SubClassOf 'Abnormality of nervous system physiology' http://purl.obolibrary.org/obo/HP_0000818 Abnormality of the endocrine system 'Abnormality of the endocrine system' EquivalentTo 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'endocrine system')) http://www.ebi.ac.uk/efo/EFO_0005245 body weight loss 'weight loss' EquivalentTo 'body weight loss' http://purl.obolibrary.org/obo/HP_0000820 Abnormality of the thyroid gland 'Abnormality of the thyroid gland' EquivalentTo 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'thyroid gland')) http://purl.obolibrary.org/obo/HP_0000823 Delayed puberty 'Delayed puberty' SubClassOf 'growth delay' http://purl.obolibrary.org/obo/HP_0009130 Hand muscle atrophy 'Hand muscle atrophy' SubClassOf 'abnormality of the musculature' 'Hand muscle atrophy' SubClassOf 'Abnormality of muscle size' http://purl.obolibrary.org/obo/HP_0000758 Impaired use of nonverbal behaviors 'Impaired use of nonverbal behaviors' SubClassOf 'Abnormality of nervous system physiology' http://purl.obolibrary.org/obo/HP_0012736 Profound global developmental delay 'Profound global developmental delay' SubClassOf 'Neurodevelopmental abnormality' http://purl.obolibrary.org/obo/HP_0000769 abnormality of the breast 'abnormality of the breast' SubClassOf 'abnormality of the thorax' 'abnormality of the breast' SubClassOf 'Phenotypic abnormality' http://purl.obolibrary.org/obo/HP_0000765 abnormality of the thorax 'abnormality of the thorax' SubClassOf 'abnormality of the skeletal system' 'abnormality of the thorax' SubClassOf 'Abnormality of skeletal morphology' http://purl.obolibrary.org/obo/HP_0000766 Abnormality of the sternum 'Abnormality of the sternum' SubClassOf 'Abnormality of skeletal morphology' http://purl.obolibrary.org/obo/HP_0000767 Pectus excavatum 'Pectus excavatum' SubClassOf 'Abnormality of the sternum' http://purl.obolibrary.org/obo/HP_0000775 Abnormality of the diaphragm 'Abnormality of the diaphragm' SubClassOf 'abnormality of the musculature' 'Abnormality of the diaphragm' SubClassOf 'Abnormality of muscle morphology' http://purl.obolibrary.org/obo/HP_0000786 Primary amenorrhea 'Primary amenorrhea' SubClassOf 'Abnormality of the endocrine system' http://purl.obolibrary.org/obo/HP_0009124 Abnormality of adipose tissue 'Abnormality of adipose tissue' EquivalentTo 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'adipose tissue')) http://purl.obolibrary.org/obo/HP_0000790 Hematuria 'Hematuria' SubClassOf 'abnormal renal physiology' http://purl.obolibrary.org/obo/HP_0000712 Emotional lability 'Emotional lability' SubClassOf 'Abnormality of nervous system physiology' http://purl.obolibrary.org/obo/HP_0000713 Agitation 'Agitation' SubClassOf 'Abnormality of nervous system physiology' http://purl.obolibrary.org/obo/HP_0000720 mood swings 'mood swings' SubClassOf 'behavioral abnormality' 'mood swings' SubClassOf 'Abnormal emotion/affect behavior' http://purl.obolibrary.org/obo/HP_0000725 Psychotic episodes 'Psychotic episodes' SubClassOf 'Abnormality of nervous system physiology' http://purl.obolibrary.org/obo/HP_0000726 dementia 'dementia' SubClassOf 'cognitive impairment' 'dementia' SubClassOf 'cognitive decline' http://purl.obolibrary.org/obo/HP_0000736 Short attention span 'Short attention span' SubClassOf 'Abnormality of nervous system physiology' http://purl.obolibrary.org/obo/HP_0000737 irritability 'irritability' SubClassOf 'Impaired social interactions' 'irritability' SubClassOf 'Abnormal emotion/affect behavior' http://www.ebi.ac.uk/efo/EFO_0007743 influenza A severity measurement 'influenza A severity measurement' SubClassOf 'is_about' some 'influenza infection' 'influenza A severity measurement' SubClassOf 'measurement' 'influenza A severity measurement' SubClassOf 'is_about' some 'influenza' 'influenza A severity measurement' SubClassOf 'respiratory disease biomarker' 'influenza A severity measurement' SubClassOf 'infectious disease biomarker' http://purl.obolibrary.org/obo/HP_0000732 Inflexible adherence to routines or rituals 'Inflexible adherence to routines or rituals' SubClassOf 'Abnormality of nervous system physiology' http://purl.obolibrary.org/obo/HP_0000733 Stereotypy 'Stereotypy' SubClassOf 'abnormality of movement' http://purl.obolibrary.org/obo/HP_0012718 morphological abnormality of the gastrointestinal tract 'morphological abnormality of the gastrointestinal tract' SubClassOf 'Abnormality of the digestive system' 'morphological abnormality of the gastrointestinal tract' SubClassOf 'abnormality of the gastrointestinal tract' http://purl.obolibrary.org/obo/HP_0000750 Delayed speech and language development 'Delayed speech and language development' SubClassOf 'abnormality of the nervous system' 'Delayed speech and language development' SubClassOf 'Neurodevelopmental abnormality' http://purl.obolibrary.org/obo/HP_0000753 Autism with high cognitive abilities 'Autism with high cognitive abilities' SubClassOf 'Abnormality of nervous system physiology' http://purl.obolibrary.org/obo/HP_0000707 abnormality of the nervous system 'abnormality of the nervous system' EquivalentTo 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'nervous system')) http://purl.obolibrary.org/obo/HP_0000708 behavioral abnormality 'behavioral abnormality' SubClassOf 'abnormality of the nervous system' 'behavioral abnormality' EquivalentTo 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'behavior')) 'behavioral abnormality' SubClassOf 'Abnormality of nervous system physiology' http://purl.obolibrary.org/obo/MONDO_0016743 tumor of meninges 'tumor of meninges' SubClassOf 'has modifier' some 'rare' 'tumor of meninges' SubClassOf 'Central Nervous System Neoplasm' http://purl.obolibrary.org/obo/MONDO_0002134 physiological sexual disorder 'physiological sexual disorder' SubClassOf 'sexual disorder' 'physiological sexual disorder' SubClassOf 'reproductive system disease' http://purl.obolibrary.org/obo/MONDO_0016642 meningioma (disease) 'meningioma (disease)' SubClassOf 'tumor of meninges' http://purl.obolibrary.org/obo/HP_0000999 pyoderma 'pyoderma' SubClassOf 'inflammatory abnormality of the skin' http://purl.obolibrary.org/obo/HP_0000902 Rib fusion 'Rib fusion' SubClassOf 'Abnormality of skeletal morphology' 'Rib fusion' SubClassOf 'abnormality of the thorax' http://www.ebi.ac.uk/efo/EFO_0007940 chronic venous insufficiency 'chronic venous insufficiency' SubClassOf 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'cardiovascular system')) http://purl.obolibrary.org/obo/HP_0000957 Cafe-au-lait spot 'Cafe-au-lait spot' SubClassOf 'Abnormality of skin morphology' http://purl.obolibrary.org/obo/HP_0000952 jaundice 'jaundice' SubClassOf 'abnormality of the skin' 'jaundice' SubClassOf 'Abnormality of skin morphology' http://purl.obolibrary.org/obo/HP_0000954 Single transverse palmar crease 'Single transverse palmar crease' SubClassOf 'Abnormality of skin morphology' 'Single transverse palmar crease' SubClassOf 'Abnormality of the upper limb' http://purl.obolibrary.org/obo/HP_0000960 Sacral dimple 'Sacral dimple' SubClassOf 'Abnormality of skeletal morphology' 'Sacral dimple' SubClassOf 'Abnormality of the vertebral column' http://purl.obolibrary.org/obo/HP_0000964 Eczema 'Eczema' EquivalentTo 'has part' some ('having extra processual parts' and ('inheres_in' some 'blood vessel') and ('towards' some 'skin of body')) http://purl.obolibrary.org/obo/HP_0000975 hyperhidrosis 'hyperhidrosis' SubClassOf 'phenotype' 'hyperhidrosis' SubClassOf 'abnormality of the integument' http://purl.obolibrary.org/obo/HP_0000929 Abnormality of the skull 'Abnormality of the skull' SubClassOf 'Abnormality of skeletal morphology' http://purl.obolibrary.org/obo/HP_0000921 Missing ribs 'Missing ribs' SubClassOf 'Abnormality of skeletal morphology' http://purl.obolibrary.org/obo/HP_0000938 osteopenia 'osteopenia' SubClassOf 'abnormality of the skeletal system' 'osteopenia' SubClassOf 'Reduced bone mineral density' http://purl.obolibrary.org/obo/HP_0000934 Chondrocalcinosis 'Chondrocalcinosis' SubClassOf 'Abnormality of skeletal morphology' http://purl.obolibrary.org/obo/HP_0000932 Abnormality of the posterior cranial fossa 'Abnormality of the posterior cranial fossa' SubClassOf 'Abnormality of skeletal morphology' http://purl.obolibrary.org/obo/HP_0007034 Generalized hyperreflexia 'Generalized hyperreflexia' SubClassOf 'Abnormality of nervous system physiology' http://www.ebi.ac.uk/efo/EFO_0005600 abdominal aortic fatty streak 'abdominal aortic fatty streak' SubClassOf 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'cardiovascular system')) 'abdominal aortic fatty streak' SubClassOf 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'aorta')) http://www.ebi.ac.uk/efo/EFO_0005601 abdominal aortic raised atherosclerotic lesion 'abdominal aortic raised atherosclerotic lesion' SubClassOf 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'cardiovascular system')) 'abdominal aortic raised atherosclerotic lesion' SubClassOf 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'aorta')) http://www.ebi.ac.uk/efo/EFO_0005616 coronary artery raised atherosclerotic lesion 'coronary artery raised atherosclerotic lesion' SubClassOf 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'cardiovascular system')) http://www.ebi.ac.uk/efo/EFO_0005617 thoracic aortic fatty streak 'thoracic aortic fatty streak' SubClassOf 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'cardiovascular system')) 'thoracic aortic fatty streak' SubClassOf 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'aorta')) http://www.ebi.ac.uk/efo/EFO_0005618 thoracic aortic raised atherosclerotic lesion 'thoracic aortic raised atherosclerotic lesion' SubClassOf 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'cardiovascular system')) 'thoracic aortic raised atherosclerotic lesion' SubClassOf 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'aorta')) http://purl.obolibrary.org/obo/HP_0010650 Hypoplasia of the premaxilla 'Hypoplasia of the premaxilla' SubClassOf 'Abnormality of skeletal morphology' 'Hypoplasia of the premaxilla' SubClassOf 'abnormality of the mouth' http://purl.obolibrary.org/obo/HP_0010668 Abnormality of the zygomatic bone 'Abnormality of the zygomatic bone' SubClassOf 'Abnormality of skeletal morphology' http://purl.obolibrary.org/obo/HP_0010609 skin tags 'skin tags' SubClassOf 'abnormality of the skin' 'skin tags' SubClassOf 'Abnormality of skin morphology' http://purl.obolibrary.org/obo/HP_0010511 Long toe 'Long toe' SubClassOf 'Abnormal digit morphology' http://purl.obolibrary.org/obo/HP_0010517 Ectopic thymus tissue 'Ectopic thymus tissue' SubClassOf 'Abnormality of the endocrine system' http://purl.obolibrary.org/obo/HP_0010515 Aplasia/Hypoplasia of the thymus 'Aplasia/Hypoplasia of the thymus' SubClassOf 'Abnormality of the endocrine system' http://purl.obolibrary.org/obo/HP_0010554 Cutaneous finger syndactyly 'Cutaneous finger syndactyly' SubClassOf 'Abnormal digit morphology' http://purl.obolibrary.org/obo/HP_0010508 Metatarsus valgus 'Metatarsus valgus' SubClassOf 'abnormality of limbs' 'Metatarsus valgus' SubClassOf 'abnormality of the foot' 'Metatarsus valgus' SubClassOf 'Abnormality of skeletal morphology' http://purl.obolibrary.org/obo/HP_0009816 Lower limb undergrowth 'Lower limb undergrowth' SubClassOf 'abnormality of the lower limb' http://purl.obolibrary.org/obo/HP_0009826 Limb undergrowth 'Limb undergrowth' SubClassOf 'abnormality of limbs' http://purl.obolibrary.org/obo/HP_0010813 Abnormal number of hair whorls 'Abnormal number of hair whorls' SubClassOf 'Abnormal digit morphology' http://purl.obolibrary.org/obo/HP_0009800 Maternal diabetes 'Maternal diabetes' SubClassOf 'Glucose intolerance' 'Maternal diabetes' SubClassOf http://purl.obolibrary.org/obo/HP_0001952 'Maternal diabetes' SubClassOf 'abnormality of prenatal development or birth' 'Maternal diabetes' SubClassOf 'Abnormality of the endocrine system' http://purl.obolibrary.org/obo/HP_0007256 Abnormal pyramidal sign 'Abnormal pyramidal sign' SubClassOf 'Abnormality of nervous system physiology' 'Abnormal pyramidal sign' SubClassOf 'abnormality of metabolism/homeostasis' 'Abnormal pyramidal sign' SubClassOf 'abnormality of brain morphology' http://purl.obolibrary.org/obo/HP_0010862 Delayed fine motor development 'Delayed fine motor development' SubClassOf 'Abnormality of nervous system physiology' http://purl.obolibrary.org/obo/HP_0010863 Receptive language delay 'Receptive language delay' SubClassOf 'Delayed speech and language development' http://purl.obolibrary.org/obo/HP_0032155 Abdominal cramps 'Abdominal cramps' SubClassOf 'pain in abdomen' 'Abdominal cramps' SubClassOf 'Constitutional symptom' http://purl.obolibrary.org/obo/MONDO_0018859 Leigh disease 'Leigh disease' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' 'Leigh disease' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Leigh disease' SubClassOf 'Syndrome with a symptomatic strabismus' 'Leigh disease' SubClassOf 'Supranuclear oculomotor palsy' 'Leigh disease' SubClassOf 'Neurometabolic disease' 'Leigh disease' SubClassOf 'Mitochondrial disease with eye involvement' 'Leigh disease' SubClassOf 'Mitochondrial disease with peripheral neuropathy' http://purl.obolibrary.org/obo/HP_0009722 Dental enamel pits 'Dental enamel pits' SubClassOf 'Abnormality of the dentition' 'Dental enamel pits' SubClassOf 'Abnormality of dental enamel' http://purl.obolibrary.org/obo/HP_0010771 pilonidal abscess 'pilonidal abscess' SubClassOf 'Abnormality of the vertebral column' http://purl.obolibrary.org/obo/HP_0007126 Proximal amyotrophy 'Proximal amyotrophy' SubClassOf 'abnormality of limbs' http://purl.obolibrary.org/obo/HP_0009737 Lisch nodules 'Lisch nodules' SubClassOf 'abnormality of the face' http://purl.obolibrary.org/obo/HP_0010720 Abnormal hair pattern 'Abnormal hair pattern' SubClassOf 'abnormality of the skin' 'Abnormal hair pattern' SubClassOf 'abnormality of the integument' http://purl.obolibrary.org/obo/HP_0009762 facial wrinkling 'facial wrinkling' SubClassOf 'Abnormality of skin morphology' http://purl.obolibrary.org/obo/HP_0009763 Limb pain 'Limb pain' SubClassOf 'Abnormality of skeletal morphology' 'Limb pain' SubClassOf 'abnormality of the skeletal system' 'Limb pain' SubClassOf 'Constitutional symptom' http://purl.obolibrary.org/obo/HP_0010743 Short metatarsal 'Short metatarsal' SubClassOf 'abnormality of limbs' 'Short metatarsal' SubClassOf 'abnormality of the foot' http://purl.obolibrary.org/obo/HP_0010747 Medial flaring of the eyebrow 'Medial flaring of the eyebrow' SubClassOf 'Abnormality of skin morphology' 'Medial flaring of the eyebrow' SubClassOf 'abnormality of the integument' http://www.ebi.ac.uk/efo/EFO_0009678 paralytic strabismus 'paralytic strabismus' SubClassOf 'strabismus' http://www.ebi.ac.uk/efo/EFO_0007066 chronic ulcer of skin 'chronic ulcer of skin' SubClassOf 'inheres in part of' some 'zone of skin' http://purl.obolibrary.org/obo/HP_0009944 Partial duplication of thumb phalanx 'Partial duplication of thumb phalanx' SubClassOf 'Abnormal upper limb bone morphology' http://purl.obolibrary.org/obo/HP_0007305 CNS demyelination 'CNS demyelination' SubClassOf 'morphological abnormality of the central nervous system' http://purl.obolibrary.org/obo/HP_0010944 abnormality of the renal pelvis 'abnormality of the renal pelvis' SubClassOf 'abnormality of the kidney' 'abnormality of the renal pelvis' SubClassOf 'Abnormal renal morphology' http://purl.obolibrary.org/obo/HP_0007370 Aplasia/Hypoplasia of the corpus callosum 'Aplasia/Hypoplasia of the corpus callosum' SubClassOf 'Abnormality of the cerebral white matter' 'Aplasia/Hypoplasia of the corpus callosum' SubClassOf 'Abnormality of the corpus callosum' http://purl.obolibrary.org/obo/MONDO_0000595 sexual disorder 'sexual disorder' SubClassOf 'psychiatric disorder' http://purl.obolibrary.org/obo/HP_0007313 cerebral degeneration 'cerebral degeneration' SubClassOf 'abnormality of the nervous system' 'cerebral degeneration' SubClassOf 'Brain atrophy' http://purl.obolibrary.org/obo/HP_0007333 Hypoplasia of the frontal lobes 'Hypoplasia of the frontal lobes' SubClassOf 'Cerebral hypoplasia' http://purl.obolibrary.org/obo/HP_0007340 Lower limb Muscle weakness 'Lower limb Muscle weakness' SubClassOf 'Limb muscle weakness' http://purl.obolibrary.org/obo/HP_0030096 Abnormal muscle fiber dystrophin expression 'Abnormal muscle fiber dystrophin expression' SubClassOf 'abnormality of the musculature' 'Abnormal muscle fiber dystrophin expression' SubClassOf 'abnormality of metabolism/homeostasis' 'Abnormal muscle fiber dystrophin expression' SubClassOf 'Abnormality of muscle morphology' http://www.ebi.ac.uk/efo/EFO_0009866 pulmonary vascular congestion 'pulmonary vascular congestion' SubClassOf 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'cardiovascular system')) http://purl.obolibrary.org/obo/HP_0030084 Clinodactyly 'Clinodactyly' SubClassOf 'Abnormal digit morphology' http://www.ebi.ac.uk/efo/EFO_0009873 decreased cardiac output 'decreased cardiac output' SubClassOf 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'cardiovascular system')) http://www.ebi.ac.uk/efo/EFO_0009871 increased heart weight 'increased heart weight' SubClassOf 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'cardiovascular system')) http://www.ebi.ac.uk/efo/EFO_0009872 increased cardiac output 'increased cardiac output' SubClassOf 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'cardiovascular system')) http://purl.obolibrary.org/obo/HP_0007663 Reduced visual acuity 'Reduced visual acuity' SubClassOf 'Abnormality of vision' http://purl.obolibrary.org/obo/HP_0005085 Limited knee flexion/extension 'Limited knee flexion/extension' SubClassOf 'Abnormality of skeletal morphology' http://www.ebi.ac.uk/efo/EFO_0009829 vascular smooth muscle hypertrophy 'vascular smooth muscle hypertrophy' SubClassOf 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'cardiovascular system')) http://purl.obolibrary.org/obo/HP_0005033 Distal ulnar hypoplasia 'Distal ulnar hypoplasia' SubClassOf 'abnormality of limbs' 'Distal ulnar hypoplasia' SubClassOf 'Abnormal upper limb bone morphology' 'Distal ulnar hypoplasia' SubClassOf 'Upper limb undergrowth' http://purl.obolibrary.org/obo/MONDO_0024292 gastrointestinal polyp 'gastrointestinal polyp' SubClassOf 'digestive system neoplasm' 'gastrointestinal polyp' SubClassOf 'digestive system disease' http://www.ebi.ac.uk/efo/EFO_0007190 campylobacteriosis 'campylobacteriosis' SubClassOf 'disease has feature' some 'dysentery' 'campylobacteriosis' SubClassOf 'gastrointestinal disease' 'campylobacteriosis' SubClassOf 'digestive system infectious disease' 'campylobacteriosis' SubClassOf 'gastroenteritis' http://purl.obolibrary.org/obo/MONDO_0002998 skull base meningioma 'skull base meningioma' SubClassOf 'meningioma (disease)' 'skull base meningioma' SubClassOf 'Meningioma' http://purl.obolibrary.org/obo/HP_0007559 Localized epidermolytic hyperkeratosis 'Localized epidermolytic hyperkeratosis' SubClassOf 'abnormality of the skin' 'Localized epidermolytic hyperkeratosis' SubClassOf 'epidermal thickening' http://purl.obolibrary.org/obo/HP_0007552 Abnormal subcutaneous fat tissue distribution 'Abnormal subcutaneous fat tissue distribution' SubClassOf 'Abnormality of connective tissue' 'Abnormal subcutaneous fat tissue distribution' SubClassOf 'Abnormality of adipose tissue' http://purl.obolibrary.org/obo/HP_0007924 Slow decrease in visual acuity 'Slow decrease in visual acuity' SubClassOf 'Visual loss' http://purl.obolibrary.org/obo/HP_0005224 rectal abscess 'rectal abscess' SubClassOf 'abnormality of the immune system' http://purl.obolibrary.org/obo/HP_0005241 Total intestinal aganglionosis 'Total intestinal aganglionosis' SubClassOf 'abnormality of the nervous system' http://purl.obolibrary.org/obo/HP_0005281 Hypoplastic nasal bridge 'Hypoplastic nasal bridge' SubClassOf 'abnormality of the skeletal system' http://www.ebi.ac.uk/efo/EFO_0007328 influenza 'influenza' SubClassOf 'has phenotype' some 'influenza infection' http://purl.obolibrary.org/obo/HP_0030160 cervicitis 'cervicitis' SubClassOf 'abnormality of female internal genitalia' 'cervicitis' SubClassOf 'Abnormality of the uterus' http://purl.obolibrary.org/obo/HP_0030190 Oral motor hypotonia 'Oral motor hypotonia' SubClassOf 'Abnormal muscle tone' http://purl.obolibrary.org/obo/HP_0007754 Macular dystrophy 'Macular dystrophy' SubClassOf 'Abnormal macular morphology' http://purl.obolibrary.org/obo/HP_0007722 Retinal pigment epithelial atrophy 'Retinal pigment epithelial atrophy' SubClassOf 'abnormality of the nervous system' http://purl.obolibrary.org/obo/HP_0005181 Premature coronary artery atherosclerosis 'Premature coronary artery atherosclerosis' SubClassOf 'Abnormality of cardiovascular system morphology' http://purl.obolibrary.org/obo/HP_0030114 Absent muscle fiber dysferlin 'Absent muscle fiber dysferlin' SubClassOf 'abnormality of metabolism/homeostasis' http://purl.obolibrary.org/obo/HP_0005184 Prolonged QTc interval 'Prolonged QTc interval' SubClassOf 'Abnormal EKG' 'Prolonged QTc interval' SubClassOf 'prolonged QT interval' http://purl.obolibrary.org/obo/HP_0030151 Cholangitis 'Cholangitis' SubClassOf 'Abnormality of the liver' 'Cholangitis' SubClassOf 'increased inflammatory response' 'Cholangitis' SubClassOf 'Abnormal biliary tract morphology' http://purl.obolibrary.org/obo/HP_0005469 Flat occiput 'Flat occiput' SubClassOf 'Abnormality of skeletal morphology' http://purl.obolibrary.org/obo/HP_0005465 Facial hyperostosis 'Facial hyperostosis' SubClassOf 'Abnormality of the skull' 'Facial hyperostosis' SubClassOf 'Abnormality of skeletal morphology' 'Facial hyperostosis' SubClassOf 'abnormality of the face' 'Facial hyperostosis' SubClassOf 'Abnormality of facial skeleton' http://purl.obolibrary.org/obo/HP_0005487 Prominent metopic ridge 'Prominent metopic ridge' SubClassOf 'Abnormality of skeletal morphology' 'Prominent metopic ridge' SubClassOf 'abnormality of the face' http://purl.obolibrary.org/obo/HP_0005484 Postnatal microcephaly 'Postnatal microcephaly' SubClassOf 'growth abnormality' http://purl.obolibrary.org/obo/HP_0007968 Remnants of the hyaloid vascular system 'Remnants of the hyaloid vascular system' SubClassOf 'Abnormality of the eye' 'Remnants of the hyaloid vascular system' SubClassOf 'Abnormality of the vasculature' 'Remnants of the hyaloid vascular system' SubClassOf 'abnormal morphology of the posterior segment of the globe' http://purl.obolibrary.org/obo/HP_0040082 Happy demeanor 'Happy demeanor' SubClassOf 'behavioral abnormality' 'Happy demeanor' SubClassOf 'Abnormal emotion/affect behavior' http://purl.obolibrary.org/obo/HP_0040083 Toe walking 'Toe walking' SubClassOf 'Abnormality of nervous system physiology' http://purl.obolibrary.org/obo/HP_0003031 Ulnar bowing 'Ulnar bowing' SubClassOf 'Abnormality of skeletal morphology' 'Ulnar bowing' SubClassOf 'Bowing of the long bones' http://purl.obolibrary.org/obo/HP_0003065 Patellar hypoplasia 'Patellar hypoplasia' SubClassOf 'Lower limb undergrowth' 'Patellar hypoplasia' SubClassOf 'abnormality of the lower limb' 'Patellar hypoplasia' SubClassOf 'Abnormality of skeletal morphology' http://purl.obolibrary.org/obo/HP_0003011 abnormality of the musculature 'abnormality of the musculature' EquivalentTo 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'musculature')) http://purl.obolibrary.org/obo/HP_0040070 Abnormal upper limb bone morphology 'Abnormal upper limb bone morphology' SubClassOf 'Abnormality of skeletal morphology' http://purl.obolibrary.org/obo/HP_0003074 Hyperglycemia 'Hyperglycemia' EquivalentTo 'has part' some ('increased concentration' and ('inheres_in' some 'blood') and ('has component' some 'pathological') and ('towards' some 'glucose')) http://purl.obolibrary.org/obo/HP_0003073 hypoalbuminemia 'hypoalbuminemia' SubClassOf 'abnormality of blood and blood-forming tissues' 'hypoalbuminemia' EquivalentTo 'has part' some ('decreased concentration' and ('inheres_in' some ('serum albumin' and ('part of' some 'blood'))) and ('has component' some 'abnormal')) 'hypoalbuminemia' SubClassOf 'Abnormality of nitrogen compound homeostasis' 'hypoalbuminemia' SubClassOf 'abnormality of metabolism/homeostasis' http://purl.obolibrary.org/obo/HP_0003072 Hypercalcemia 'Hypercalcemia' EquivalentTo 'has part' some ('increased concentration' and ('inheres_in' some 'blood') and ('towards' some 'calcium')) http://purl.obolibrary.org/obo/HP_0003086 Acromesomelia 'Acromesomelia' SubClassOf 'abnormality of limbs' http://purl.obolibrary.org/obo/HP_0005613 Aplasia/hypoplasia of the femur 'Aplasia/hypoplasia of the femur' SubClassOf 'Abnormality of the cerebral white matter' 'Aplasia/hypoplasia of the femur' SubClassOf 'abnormality of the lower limb' http://purl.obolibrary.org/obo/HP_0005639 Hyperextensible hand joints 'Hyperextensible hand joints' SubClassOf 'Abnormality of skeletal morphology' http://www.ebi.ac.uk/efo/EFO_0001669 influenza infection 'influenza infection' SubClassOf 'infection' 'influenza infection' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2556 Microphthalmia with linear skin defects syndrome 'Microphthalmia with linear skin defects syndrome' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/HP_0005532 Macrocytic dyserythropoietic anemia 'Macrocytic dyserythropoietic anemia' SubClassOf 'anemia' 'Macrocytic dyserythropoietic anemia' SubClassOf 'Anemia of inadequate production' http://purl.obolibrary.org/obo/HP_0005562 Multiple renal cysts 'Multiple renal cysts' SubClassOf 'Abnormal renal morphology' http://www.orpha.net/ORDO/Orphanet_83629 Leukoencephalopathy - metaphyseal chondrodysplasia 'Leukoencephalopathy - metaphyseal chondrodysplasia' SubClassOf 'Genetic neurodegenerative disease' 'Leukoencephalopathy - metaphyseal chondrodysplasia' SubClassOf 'Genetic neurodegenerative disease' http://www.ebi.ac.uk/efo/EFO_1001369 Meningomyelocele 'Meningomyelocele' SubClassOf 'central nervous system disease' http://purl.obolibrary.org/obo/HP_0003306 Spinal rigidity 'Spinal rigidity' SubClassOf 'Abnormality of skeletal morphology' 'Spinal rigidity' SubClassOf 'abnormality of the nervous system' 'Spinal rigidity' SubClassOf 'Abnormality of the vertebral column' http://purl.obolibrary.org/obo/HP_0003319 Abnormality of the cervical spine 'Abnormality of the cervical spine' SubClassOf 'Abnormality of the neck' http://purl.obolibrary.org/obo/HP_0003325 Limb-girdle muscle weakness 'Limb-girdle muscle weakness' SubClassOf 'abnormality of the musculature' 'Limb-girdle muscle weakness' SubClassOf 'Muscle weakness' 'Limb-girdle muscle weakness' SubClassOf 'abnormality of limbs' 'Limb-girdle muscle weakness' SubClassOf 'Abnormality of muscle morphology' http://purl.obolibrary.org/obo/HP_0003326 Myalgia 'Myalgia' SubClassOf 'Abnormality of muscle physiology' 'Myalgia' SubClassOf 'Constitutional symptom' http://purl.obolibrary.org/obo/HP_0030914 abnormal peristalsis 'abnormal peristalsis' SubClassOf 'Functional abnormality of the gastrointestinal tract' 'abnormal peristalsis' SubClassOf 'Gastrointestinal dysmotility' http://purl.obolibrary.org/obo/HP_0003274 Hypoplastic acetabulae 'Hypoplastic acetabulae' SubClassOf 'Lower limb undergrowth' 'Hypoplastic acetabulae' SubClassOf 'abnormality of the lower limb' 'Hypoplastic acetabulae' SubClassOf 'Abnormality of skeletal morphology' http://purl.obolibrary.org/obo/HP_0003270 Abdominal distention 'Abdominal distention' SubClassOf 'abnormality of the abdomen morphology' 'Abdominal distention' SubClassOf 'Abdominal symptom' http://purl.obolibrary.org/obo/HP_0040223 Pulmonary hemorrhage 'Pulmonary hemorrhage' SubClassOf 'Abnormal bleeding' 'Pulmonary hemorrhage' SubClassOf 'abnormality of the lung' 'Pulmonary hemorrhage' SubClassOf 'Abnormality of blood circulation' http://purl.obolibrary.org/obo/HP_0003298 Spina bifida occulta 'Spina bifida occulta' SubClassOf 'Abnormality of skeletal morphology' 'Spina bifida occulta' SubClassOf 'morphological abnormality of the central nervous system' http://purl.obolibrary.org/obo/HP_0003231 Hypertyrosinemia 'Hypertyrosinemia' SubClassOf 'abnormality of metabolism/homeostasis' 'Hypertyrosinemia' SubClassOf 'abnormality of aromatic amino acid family metabolism' http://purl.obolibrary.org/obo/HP_0030834 shoulder pain 'shoulder pain' SubClassOf 'Constitutional symptom' http://purl.obolibrary.org/obo/HP_0030833 neck pain 'neck pain' SubClassOf 'Constitutional symptom' http://purl.obolibrary.org/obo/HP_0030838 hip pain 'hip pain' SubClassOf 'Constitutional symptom' http://purl.obolibrary.org/obo/HP_0030839 knee pain 'knee pain' SubClassOf 'Constitutional symptom' http://www.orpha.net/ORDO/Orphanet_2869 Peutz-Jeghers syndrome 'Peutz-Jeghers syndrome' SubClassOf 'Genetic digestive tract tumor' 'Peutz-Jeghers syndrome' SubClassOf 'intestinal neoplasm' http://www.ebi.ac.uk/efo/EFO_1001439 Trilogy of Fallot 'Trilogy of Fallot' SubClassOf 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'cardiovascular system')) http://purl.obolibrary.org/obo/HP_0003212 Increased circulating total IgE level 'Increased circulating total IgE level' SubClassOf 'abnormality of metabolism/homeostasis' http://purl.obolibrary.org/obo/HP_0030766 ear pain 'ear pain' SubClassOf 'Abnormality of the ear' 'ear pain' SubClassOf 'Constitutional symptom' http://purl.obolibrary.org/obo/HP_0003150 Glutaric aciduria 'Glutaric aciduria' SubClassOf 'Abnormality of carboxylic acid metabolism' 'Glutaric aciduria' SubClassOf 'Abnormality of urine homeostasis' http://purl.obolibrary.org/obo/HP_0003179 Protrusio acetabuli 'Protrusio acetabuli' SubClassOf 'abnormality of the lower limb' http://purl.obolibrary.org/obo/HP_0030775 Modic type vertebral endplate changes 'Modic type vertebral endplate changes' SubClassOf 'abnormality of the skeletal system' 'Modic type vertebral endplate changes' SubClassOf 'Abnormality of the vertebral column' http://purl.obolibrary.org/obo/HP_0003108 Hyperglycinuria 'Hyperglycinuria' SubClassOf 'Abnormality of urine homeostasis' http://purl.obolibrary.org/obo/HP_0005775 Multiple skeletal anomalies 'Multiple skeletal anomalies' SubClassOf 'Abnormality of skeletal morphology' http://purl.obolibrary.org/obo/HP_0003111 Abnormality of ion homeostasis 'Abnormality of ion homeostasis' EquivalentTo 'has part' some ('concentration of' and ('has component' some 'abnormal') and ('towards' some 'monoatomic ion')) http://purl.obolibrary.org/obo/HP_0003110 Abnormality of urine homeostasis 'Abnormality of urine homeostasis' EquivalentTo 'has part' some ('quality' and ('inheres_in' some ('homeostatic process' and ('part of' some 'urine'))) and ('has component' some 'abnormal')) 'Abnormality of urine homeostasis' SubClassOf 'abnormality of the urinary system physiology' http://purl.obolibrary.org/obo/HP_0003119 Abnormality of lipid metabolism 'Abnormality of lipid metabolism' EquivalentTo 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'lipid metabolic process')) http://purl.obolibrary.org/obo/HP_0040188 Osteochondritis 'Osteochondritis' SubClassOf 'abnormality of the skeletal system' 'Osteochondritis' SubClassOf 'Abnormality of skeletal morphology' http://purl.obolibrary.org/obo/HP_0040183 Encopresis 'Encopresis' SubClassOf 'Abnormality of the abdominal organs' 'Encopresis' SubClassOf 'Abnormality of the digestive system' 'Encopresis' SubClassOf 'Constitutional symptom' http://purl.obolibrary.org/obo/HP_0003549 Abnormality of connective tissue 'Abnormality of connective tissue' EquivalentTo 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'connective tissue')) http://purl.obolibrary.org/obo/HP_0003530 Glutaric acidemia 'Glutaric acidemia' SubClassOf 'Abnormality of carboxylic acid metabolism' http://purl.obolibrary.org/obo/HP_0003547 Shoulder girdle muscle weakness 'Shoulder girdle muscle weakness' SubClassOf 'Abnormality of muscle physiology' http://purl.obolibrary.org/obo/HP_0003429 CNS hypomyelination 'CNS hypomyelination' SubClassOf 'Abnormal myelination' 'CNS hypomyelination' SubClassOf 'morphological abnormality of the central nervous system' http://purl.obolibrary.org/obo/HP_0003458 EMG: myopathic abnormalities 'EMG: myopathic abnormalities' SubClassOf 'Abnormality of muscle morphology' http://purl.obolibrary.org/obo/HP_0003401 Paresthesia 'Paresthesia' SubClassOf 'abnormality of the nervous system' 'Paresthesia' SubClassOf 'Sensory neuropathy' http://purl.obolibrary.org/obo/HP_0003418 back pain 'back pain' SubClassOf 'Constitutional symptom' 'back pain' SubClassOf 'Abnormality of the vertebral column' http://purl.obolibrary.org/obo/HP_0003710 Exercise-induced muscle cramps 'Exercise-induced muscle cramps' SubClassOf 'muscle spasm' 'Exercise-induced muscle cramps' SubClassOf 'Abnormality of muscle physiology' http://purl.obolibrary.org/obo/HP_0003720 Generalized muscle hypertrophy 'Generalized muscle hypertrophy' SubClassOf 'Abnormality of muscle morphology' 'Generalized muscle hypertrophy' SubClassOf 'Abnormality of muscle size' http://www.orpha.net/ORDO/Orphanet_109 Bannayan-Riley-Ruvalcaba syndrome 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'brain neoplasm' 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'rare genetic vascular tumor' 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'Genetic vascular anomaly' http://purl.obolibrary.org/obo/HP_0003749 Pelvic girdle muscle weakness 'Pelvic girdle muscle weakness' SubClassOf 'Lower limb Muscle weakness' http://purl.obolibrary.org/obo/HP_0003756 Skeletal myopathy 'Skeletal myopathy' SubClassOf 'Abnormality of muscle morphology' http://purl.obolibrary.org/obo/HP_0001103 Abnormal macular morphology 'Abnormal macular morphology' SubClassOf 'abnormality of the nervous system' http://purl.obolibrary.org/obo/HP_0001123 Visual field defect 'Visual field defect' SubClassOf 'Abnormality of vision' http://purl.obolibrary.org/obo/HP_0001094 iridocyclitis 'iridocyclitis' SubClassOf 'increased inflammatory response' http://www.orpha.net/ORDO/Orphanet_2495 Meningioma 'Meningioma' SubClassOf 'endocrine neoplasm' 'Meningioma' SubClassOf 'meningeal neoplasm' 'Meningioma' SubClassOf 'has_disease_location' some 'endocrine system' 'Meningioma' SubClassOf 'meningeal neoplasm' http://purl.obolibrary.org/obo/HP_0001082 Cholecystitis 'Cholecystitis' SubClassOf 'Abnormal gallbladder physiology' http://purl.obolibrary.org/obo/HP_0025031 Abnormality of the digestive system 'Abnormality of the digestive system' EquivalentTo 'has part' some ('quality' and ('inheres_in' some 'digestive system') and ('has component' some 'abnormal')) http://purl.obolibrary.org/obo/HP_0003690 Limb muscle weakness 'Limb muscle weakness' SubClassOf 'abnormality of the musculature' 'Limb muscle weakness' SubClassOf 'Abnormality of muscle morphology' 'Limb muscle weakness' SubClassOf 'abnormality of limbs' 'Limb muscle weakness' SubClassOf 'Muscle weakness' http://www.orpha.net/ORDO/Orphanet_2380 Legg-Calvé-Perthes disease 'Legg-Calvé-Perthes disease' SubClassOf 'Osteochondrosis' 'Legg-Calvé-Perthes disease' SubClassOf 'Osteochondrosis of genetic origin' 'Legg-Calvé-Perthes disease' SubClassOf 'Osteonecrosis of genetic origin' http://purl.obolibrary.org/obo/HP_0001310 Dysmetria 'Dysmetria' SubClassOf 'Ataxia' http://purl.obolibrary.org/obo/HP_0001319 Neonatal hypotonia 'Neonatal hypotonia' SubClassOf 'muscular hypotonia' http://purl.obolibrary.org/obo/HP_0001315 Reduced tendon reflexes 'Reduced tendon reflexes' SubClassOf 'Abnormality of nervous system physiology' http://purl.obolibrary.org/obo/HP_0025328 antepartum hemorrhage 'antepartum hemorrhage' SubClassOf 'Abnormal bleeding' 'antepartum hemorrhage' SubClassOf 'Abnormality of blood circulation' http://purl.obolibrary.org/obo/HP_0001385 Hip dysplasia 'Hip dysplasia' SubClassOf 'abnormality of limbs' http://purl.obolibrary.org/obo/HP_0001399 hepatic failure 'hepatic failure' SubClassOf 'Abnormality of the liver' 'hepatic failure' SubClassOf 'Abnormality of the digestive system' http://purl.obolibrary.org/obo/HP_0001395 Hepatic fibrosis 'Hepatic fibrosis' EquivalentTo 'has part' some ('increased amount' and ('inheres_in' some ('fibrosis' and ('part of' some 'liver'))) and ('has component' some 'abnormal')) 'Hepatic fibrosis' SubClassOf 'Abnormality of the endocrine system' http://purl.obolibrary.org/obo/HP_0001328 Specific learning disability 'Specific learning disability' SubClassOf 'abnormality of the nervous system' 'Specific learning disability' SubClassOf 'Neurodevelopmental abnormality' http://purl.obolibrary.org/obo/HP_0001332 Dystonia 'Dystonia' SubClassOf 'abnormality of movement' http://purl.obolibrary.org/obo/HP_0001338 Partial agenesis of the corpus callosum 'Partial agenesis of the corpus callosum' SubClassOf 'Aplasia/Hypoplasia of the corpus callosum' http://purl.obolibrary.org/obo/HP_0001344 Absent speech 'Absent speech' SubClassOf 'Neurological speech impairment' 'Absent speech' SubClassOf 'Delayed speech and language development' http://purl.obolibrary.org/obo/HP_0001348 Brisk reflexes 'Brisk reflexes' SubClassOf 'Abnormality of nervous system physiology' http://purl.obolibrary.org/obo/HP_0001350 Slurred speech 'Slurred speech' SubClassOf 'Abnormality of nervous system physiology' http://purl.obolibrary.org/obo/HP_0001298 Encephalopathy 'Encephalopathy' SubClassOf 'Abnormality of nervous system physiology' http://purl.obolibrary.org/obo/HP_0025258 Stiff neck 'Stiff neck' SubClassOf 'abnormality of the skeletal system' http://purl.obolibrary.org/obo/HP_0003865 Bowed humerus 'Bowed humerus' SubClassOf 'Abnormality of skeletal morphology' 'Bowed humerus' SubClassOf 'Bowing of the long bones' http://purl.obolibrary.org/obo/HP_0001249 Intellectual disability 'Intellectual disability' SubClassOf 'Neurodevelopmental abnormality' http://purl.obolibrary.org/obo/HP_0001257 Spasticity 'Spasticity' SubClassOf 'Abnormality of nervous system physiology' 'Spasticity' SubClassOf 'Abnormal muscle tone' http://purl.obolibrary.org/obo/HP_0001258 Spastic paraplegia 'Spastic paraplegia' SubClassOf 'Abnormality of muscle physiology' 'Spastic paraplegia' SubClassOf 'Lower limb spasticity' http://purl.obolibrary.org/obo/HP_0001252 muscular hypotonia 'muscular hypotonia' SubClassOf 'Abnormal muscle tone' http://purl.obolibrary.org/obo/HP_0001250 Seizures 'Seizures' SubClassOf 'abnormality of the nervous system' 'Seizures' SubClassOf 'Abnormality of nervous system physiology' http://purl.obolibrary.org/obo/HP_0001251 Ataxia 'Ataxia' SubClassOf 'Abnormality of nervous system physiology' http://purl.obolibrary.org/obo/HP_0001269 Hemiparesis 'Hemiparesis' SubClassOf 'Abnormality of central motor function' http://purl.obolibrary.org/obo/HP_0001263 global developmental delay 'global developmental delay' SubClassOf 'Neurodevelopmental abnormality' http://purl.obolibrary.org/obo/HP_0001265 Hyporeflexia 'Hyporeflexia' SubClassOf 'abnormality of movement' 'Hyporeflexia' SubClassOf 'Reduced tendon reflexes' http://purl.obolibrary.org/obo/HP_0001260 Dysarthria 'Dysarthria' SubClassOf 'Neurological speech impairment' http://purl.obolibrary.org/obo/HP_0001279 syncope 'syncope' SubClassOf 'Abnormality of the cardiovascular system' 'syncope' SubClassOf 'Abnormal cardiovascular system physiology' http://purl.obolibrary.org/obo/HP_0001274 Agenesis of corpus callosum 'Agenesis of corpus callosum' SubClassOf 'Aplasia/Hypoplasia of the corpus callosum' http://purl.obolibrary.org/obo/HP_0001276 Hypertonia 'Hypertonia' SubClassOf 'Abnormality of central motor function' 'Hypertonia' SubClassOf 'Abnormal muscle tone' http://purl.obolibrary.org/obo/HP_0001270 Motor delay 'Motor delay' SubClassOf 'Neurodevelopmental abnormality' http://purl.obolibrary.org/obo/HP_0001273 Abnormality of the corpus callosum 'Abnormality of the corpus callosum' SubClassOf 'Abnormality of the cerebral white matter' http://purl.obolibrary.org/obo/HP_0001182 Tapered finger 'Tapered finger' SubClassOf 'Long fingers' http://purl.obolibrary.org/obo/HP_0001195 Single umbilical artery 'Single umbilical artery' SubClassOf 'Abnormality of the vasculature' 'Single umbilical artery' SubClassOf 'Abnormality of the cardiovascular system' http://purl.obolibrary.org/obo/HP_0001548 overgrowth 'overgrowth' SubClassOf 'growth abnormality' 'overgrowth' SubClassOf 'Tall stature' http://purl.obolibrary.org/obo/HP_0001507 growth abnormality 'growth abnormality' SubClassOf 'phenotype' 'growth abnormality' SubClassOf 'Phenotypic abnormality' http://purl.obolibrary.org/obo/HP_0001597 Abnormality of the nail 'Abnormality of the nail' SubClassOf 'abnormality of limbs' http://purl.obolibrary.org/obo/HP_0001591 Bell-shaped thorax 'Bell-shaped thorax' SubClassOf 'Abnormality of skeletal morphology' http://www.orpha.net/ORDO/Orphanet_646 Niemann-Pick disease type C 'Niemann-Pick disease type C' SubClassOf 'secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease' 'Niemann-Pick disease type C' SubClassOf 'Neurometabolic disease' 'Niemann-Pick disease type C' SubClassOf 'Supranuclear oculomotor palsy' 'Niemann-Pick disease type C' SubClassOf 'Monogenic disease with epilepsy' 'Niemann-Pick disease type C' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Niemann-Pick disease type C' SubClassOf 'cerebral lipidosis with dementia' 'Niemann-Pick disease type C' SubClassOf 'sphingolipidosis with epilepsy' 'Niemann-Pick disease type C' SubClassOf 'Neurometabolic disease' http://www.ebi.ac.uk/efo/EFO_0001064 Down syndrome 'Down syndrome' SubClassOf 'syndromic intellectual disability' 'Down syndrome' SubClassOf 'congenital nervous system disorder' 'Down syndrome' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_91135 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)' http://www.orpha.net/ORDO/Orphanet_506 Leigh syndrome 'Leigh syndrome' SubClassOf 'Leigh disease' 'Leigh syndrome' SubClassOf 'Syndrome with a symptomatic strabismus' 'Leigh syndrome' SubClassOf 'Mitochondrial disease with peripheral neuropathy' 'Leigh syndrome' SubClassOf 'Mitochondrial disease with eye involvement' 'Leigh syndrome' SubClassOf 'Supranuclear oculomotor palsy' 'Leigh syndrome' SubClassOf 'Neurometabolic disease' 'Leigh syndrome' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Leigh syndrome' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' http://purl.obolibrary.org/obo/HP_0001773 Short foot 'Short foot' SubClassOf 'abnormality of limbs' 'Short foot' SubClassOf 'abnormality of the foot' http://purl.obolibrary.org/obo/HP_0001776 Bilateral talipes equinovarus 'Bilateral talipes equinovarus' SubClassOf 'Talipes' http://purl.obolibrary.org/obo/HP_0001770 Toe syndactyly 'Toe syndactyly' SubClassOf 'abnormality of the foot' http://purl.obolibrary.org/obo/HP_0011110 tonsillitis 'tonsillitis' SubClassOf 'Abnormality of the digestive system' 'tonsillitis' SubClassOf 'Abnormality of the head' http://purl.obolibrary.org/obo/HP_0001798 Anonychia 'Anonychia' SubClassOf 'Aplasia/Hypoplasia of the nails' http://purl.obolibrary.org/obo/HP_0011107 Recurrent aphthous stomatitis 'Recurrent aphthous stomatitis' SubClassOf 'increased inflammatory response' http://purl.obolibrary.org/obo/HP_0011106 Hypovolemia hypovolemia 'Hypovolemia' SubClassOf 'abnormality of blood and blood-forming tissues' http://purl.obolibrary.org/obo/HP_0001744 Splenomegaly 'Splenomegaly' SubClassOf 'Abnormality of the abdominal organs' http://www.ebi.ac.uk/efo/EFO_0003907 deep vein thrombosis 'deep vein thrombosis' SubClassOf 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'vein')) http://purl.obolibrary.org/obo/HP_0001762 Talipes equinovarus 'Talipes equinovarus' SubClassOf 'Talipes' http://purl.obolibrary.org/obo/HP_0001761 Pes cavus 'Pes cavus' SubClassOf 'abnormality of the foot' http://www.ebi.ac.uk/efo/EFO_0003913 angina pectoris 'angina pectoris' SubClassOf 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'cardiovascular system')) http://purl.obolibrary.org/obo/MONDO_0020634 grade III meningioma 'grade III meningioma' EquivalentTo 'meningioma (disease)' and ('has modifier' some 'tumor grade 3, general grading system') 'grade III meningioma' SubClassOf 'meningioma (disease)' 'grade III meningioma' SubClassOf 'Meningioma' 'grade III meningioma' EquivalentTo 'Meningioma' and ('has modifier' some 'tumor grade 3, general grading system') http://purl.obolibrary.org/obo/HP_0011098 Speech apraxia 'Speech apraxia' SubClassOf 'Abnormality of central motor function' http://www.ebi.ac.uk/efo/EFO_1001913 Purpura Fulminans 'Purpura Fulminans' SubClassOf 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'cardiovascular system')) http://www.ebi.ac.uk/efo/EFO_1001923 varicose ulcer 'varicose ulcer' SubClassOf 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'cardiovascular system')) http://purl.obolibrary.org/obo/HP_0001647 Bicuspid aortic valve 'Bicuspid aortic valve' SubClassOf 'Abnormality of cardiovascular system morphology' 'Bicuspid aortic valve' SubClassOf 'Abnormal heart morphology' http://purl.obolibrary.org/obo/HP_0001653 Mitral regurgitation 'Mitral regurgitation' SubClassOf 'Abnormal mitral valve physiology' http://purl.obolibrary.org/obo/HP_0001655 Patent foramen ovale 'Patent foramen ovale' SubClassOf 'Abnormality of the cardiovascular system' 'Patent foramen ovale' SubClassOf 'abnormal cardiac septum morphology' http://purl.obolibrary.org/obo/HP_0001651 Dextrocardia 'Dextrocardia' SubClassOf 'Abnormality of the cardiovascular system' 'Dextrocardia' SubClassOf 'Abnormal heart morphology' http://purl.obolibrary.org/obo/HP_0001657 prolonged QT interval 'prolonged QT interval' SubClassOf 'Abnormality of the cardiovascular system' 'prolonged QT interval' SubClassOf 'Abnormal EKG' http://purl.obolibrary.org/obo/HP_0001660 Truncus arteriosus 'Truncus arteriosus' SubClassOf 'Abnormality of cardiovascular system morphology' http://purl.obolibrary.org/obo/HP_0001662 Bradycardia 'Bradycardia' SubClassOf 'Abnormality of cardiovascular system morphology' 'Bradycardia' SubClassOf 'Abnormality of cardiovascular system electrophysiology' http://www.orpha.net/ORDO/Orphanet_2930 Cronkhite-Canada syndrome 'Cronkhite-Canada syndrome' SubClassOf 'skin neoplasm' http://purl.obolibrary.org/obo/HP_0001671 abnormal cardiac septum morphology 'abnormal cardiac septum morphology' SubClassOf 'Abnormality of the cardiovascular system' 'abnormal cardiac septum morphology' SubClassOf 'Abnormal heart morphology' http://purl.obolibrary.org/obo/HP_0001679 abnormality of the aorta 'abnormality of the aorta' SubClassOf 'Abnormality of the cardiovascular system' 'abnormality of the aorta' SubClassOf 'Abnormality of cardiovascular system morphology' 'abnormality of the aorta' SubClassOf 'Abnormality of the vasculature' http://purl.obolibrary.org/obo/HP_0001685 Myocardial fibrosis 'Myocardial fibrosis' SubClassOf 'Abnormality of cardiovascular system morphology' 'Myocardial fibrosis' SubClassOf 'Abnormal heart morphology' http://purl.obolibrary.org/obo/HP_0001611 Nasal speech 'Nasal speech' SubClassOf 'abnormality of the mouth' 'Nasal speech' SubClassOf 'abnormality of the larynx' 'Nasal speech' SubClassOf 'Phenotypic abnormality' http://purl.obolibrary.org/obo/HP_0001620 High pitched voice 'High pitched voice' SubClassOf 'abnormality of the mouth' 'High pitched voice' SubClassOf 'abnormality of the larynx' 'High pitched voice' SubClassOf 'Phenotypic abnormality' http://purl.obolibrary.org/obo/HP_0001634 Mitral valve prolapse 'Mitral valve prolapse' SubClassOf 'Abnormality of the cardiovascular system' 'Mitral valve prolapse' SubClassOf 'Abnormal heart morphology' http://purl.obolibrary.org/obo/HP_0001636 tetralogy of fallot 'tetralogy of fallot' SubClassOf 'Abnormality of the cardiovascular system' 'tetralogy of fallot' SubClassOf 'Abnormality of the vasculature' 'tetralogy of fallot' SubClassOf 'Abnormal heart morphology' http://purl.obolibrary.org/obo/HP_0001642 Pulmonic stenosis 'Pulmonic stenosis' SubClassOf 'Abnormal cardiovascular system physiology' http://purl.obolibrary.org/obo/HP_0001643 Patent ductus arteriosus 'Patent ductus arteriosus' SubClassOf 'Abnormality of the vasculature' http://purl.obolibrary.org/obo/HP_0011079 impacted tooth 'impacted tooth' SubClassOf 'Abnormality of the head' 'impacted tooth' SubClassOf 'Abnormality of the dentition' http://purl.obolibrary.org/obo/HP_0011010 chronic 'chronic' SubClassOf 'clinical modifier' 'chronic' SubClassOf http://www.ebi.ac.uk/efo/EFO_0010569 http://purl.obolibrary.org/obo/HP_0011015 Abnormality of blood glucose concentration 'Abnormality of blood glucose concentration' EquivalentTo 'has part' some ('concentration of' and ('inheres_in' some 'blood') and ('has component' some 'abnormal') and ('towards' some 'glucose')) http://purl.obolibrary.org/obo/HP_0011014 Abnormal glucose homeostasis 'Abnormal glucose homeostasis' SubClassOf 'abnormality of carbohydrate metabolism/homeostasis' 'Abnormal glucose homeostasis' SubClassOf 'abnormality of metabolism/homeostasis' http://www.ebi.ac.uk/efo/EFO_0003844 ureteral neoplasm 'ureteral neoplasm' SubClassOf 'urinary system disease' 'ureteral neoplasm' SubClassOf 'neoplasm' 'ureteral neoplasm' SubClassOf 'urinary system neoplasm' 'ureteral neoplasm' SubClassOf 'ureteral disease' http://purl.obolibrary.org/obo/HP_0011009 acute 'acute' SubClassOf 'clinical modifier' 'acute' SubClassOf http://www.ebi.ac.uk/efo/EFO_0010569 http://purl.obolibrary.org/obo/HP_0011007 age of onset 'age of onset' SubClassOf 'clinical temporal measurement' 'age of onset' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/HP_0011024 abnormality of the gastrointestinal tract 'abnormality of the gastrointestinal tract' SubClassOf 'Abnormality of the abdominal organs' 'abnormality of the gastrointestinal tract' SubClassOf 'Abnormality of the digestive system' http://purl.obolibrary.org/obo/HP_0011031 abnormality of iron homeostasis 'abnormality of iron homeostasis' EquivalentTo 'has part' some ('quality' and ('inheres_in' some 'iron ion homeostasis') and ('has component' some 'abnormal')) http://www.ebi.ac.uk/efo/EFO_0003851 meningeal neoplasm 'meningeal neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some 'meninx') 'meningeal neoplasm' SubClassOf 'neoplasm' 'meningeal neoplasm' SubClassOf 'Central Nervous System Neoplasm' 'meningeal neoplasm' SubClassOf 'has modifier' some 'rare' 'meningeal neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some http://purl.obolibrary.org/obo/UBERON_0010743) http://www.ebi.ac.uk/efo/EFO_0003855 intestinal polyp 'intestinal polyp' SubClassOf 'intestinal neoplasm' 'intestinal polyp' SubClassOf 'intestinal disease' http://www.ebi.ac.uk/efo/EFO_0003766 pain in abdomen 'abdominal pain' EquivalentTo 'pain in abdomen' http://purl.obolibrary.org/obo/HP_0011343 Moderate global developmental delay 'Moderate global developmental delay' SubClassOf 'Abnormality of nervous system physiology' http://purl.obolibrary.org/obo/HP_0011368 epidermal thickening 'epidermal thickening' SubClassOf 'abnormality of the skin' 'epidermal thickening' SubClassOf 'Thickened skin' http://purl.obolibrary.org/obo/HP_0001967 Diffuse mesangial sclerosis 'Diffuse mesangial sclerosis' SubClassOf 'Abnormal renal cortex morphology' http://purl.obolibrary.org/obo/HP_0001976 Reduced antithrombin III activity 'Reduced antithrombin III activity' SubClassOf 'abnormality of metabolism/homeostasis' 'Reduced antithrombin III activity' SubClassOf 'abnormality of blood and blood-forming tissues' http://purl.obolibrary.org/obo/HP_0011398 Central hypotonia 'Central hypotonia' SubClassOf 'Abnormality of central motor function' 'Central hypotonia' SubClassOf 'Abnormal muscle tone' http://purl.obolibrary.org/obo/HP_0001939 abnormality of metabolism/homeostasis 'abnormality of metabolism/homeostasis' EquivalentTo 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'metabolic process')) http://purl.obolibrary.org/obo/HP_0001933 Subcutaneous hemorrhage 'Subcutaneous hemorrhage' SubClassOf 'Abnormal bleeding' http://purl.obolibrary.org/obo/HP_0001943 Hypoglycemia 'Hypoglycemia' EquivalentTo 'has part' some ('decreased concentration' and ('inheres_in' some 'blood') and ('has component' some 'pathological') and ('towards' some 'glucose')) http://purl.obolibrary.org/obo/HP_0001956 Truncal obesity 'Truncal obesity' SubClassOf 'Increased body weight' http://purl.obolibrary.org/obo/HP_0001919 Acute kidney injury 'Acute kidney injury' SubClassOf 'abnormal renal physiology' 'Acute kidney injury' SubClassOf 'Renal insufficiency' http://purl.obolibrary.org/obo/HP_0001915 aplastic anemia 'aplastic anemia' SubClassOf 'Pancytopenia' http://purl.obolibrary.org/obo/HP_0001891 iron deficiency anemia 'iron deficiency anemia' SubClassOf 'anemia' 'iron deficiency anemia' SubClassOf 'Anemia of inadequate production' http://purl.obolibrary.org/obo/HP_0001848 Calcaneovalgus deformity 'Calcaneovalgus deformity' SubClassOf 'abnormality of limbs' 'Calcaneovalgus deformity' SubClassOf 'abnormality of the foot' 'Calcaneovalgus deformity' SubClassOf 'Abnormality of skeletal morphology' http://purl.obolibrary.org/obo/HP_0001845 Overlapping toe 'Overlapping toe' SubClassOf 'abnormality of the foot' http://purl.obolibrary.org/obo/HP_0001863 Toe clinodactyly 'Toe clinodactyly' SubClassOf 'Abnormal digit morphology' 'Toe clinodactyly' SubClassOf 'abnormality of the foot' http://purl.obolibrary.org/obo/HP_0001873 thrombocytopenia 'thrombocytopenia' EquivalentTo 'has part' some ('decreased concentration' and ('inheres_in' some 'platelet') and ('has component' some 'abnormal')) http://purl.obolibrary.org/obo/HP_0001871 abnormality of blood and blood-forming tissues 'abnormality of blood and blood-forming tissues' EquivalentTo 'has part' some ('quality' and ('inheres_in' some 'hematopoietic system') and ('has component' some 'abnormal')) http://purl.obolibrary.org/obo/HP_0011203 EEG with abnormally slow frequencies 'EEG with abnormally slow frequencies' SubClassOf 'Abnormality of nervous system physiology' http://purl.obolibrary.org/obo/HP_0001876 Pancytopenia 'Pancytopenia' SubClassOf 'thrombocytopenia' 'Pancytopenia' SubClassOf 'abnormal leukocyte morphology' 'Pancytopenia' SubClassOf 'abnormality of blood and blood-forming tissues' http://purl.obolibrary.org/obo/HP_0001881 abnormal leukocyte morphology 'abnormal leukocyte morphology' SubClassOf 'abnormality of the immune system' http://purl.obolibrary.org/obo/HP_0011276 Vascular skin abnormality 'Vascular skin abnormality' SubClassOf 'Abnormality of skin morphology' http://www.orpha.net/ORDO/Orphanet_168448 Spondyloepimetaphyseal dysplasia, Bieganski type 'Spondyloepimetaphyseal dysplasia, Bieganski type' SubClassOf 'Genetic neurodegenerative disease' http://purl.obolibrary.org/obo/HP_0001800 Hypoplastic toenails 'Hypoplastic toenails' SubClassOf 'abnormality of the skin' 'Hypoplastic toenails' SubClassOf 'abnormality of the foot' 'Hypoplastic toenails' SubClassOf 'Abnormality of the toenails' http://purl.obolibrary.org/obo/HP_0001822 Hallux valgus 'Hallux valgus' SubClassOf 'abnormality of the foot' http://purl.obolibrary.org/obo/HP_0001824 weight loss 'weight loss' SubClassOf 'abnormality of body weight' 'weight loss' EquivalentTo 'body weight loss' 'weight loss' SubClassOf 'Decreased body weight' http://purl.obolibrary.org/obo/HP_0001830 Postaxial foot polydactyly 'Postaxial foot polydactyly' SubClassOf 'abnormality of the foot' http://purl.obolibrary.org/obo/HP_0001831 Short toe 'Short toe' SubClassOf 'abnormality of the foot' http://purl.obolibrary.org/obo/HP_0001840 Metatarsus adductus 'Metatarsus adductus' SubClassOf 'abnormality of limbs' 'Metatarsus adductus' SubClassOf 'Abnormality of skeletal morphology' 'Metatarsus adductus' SubClassOf 'abnormality of the foot' http://www.orpha.net/ORDO/Orphanet_974 Adams-Oliver syndrome 'Adams-Oliver syndrome' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/HP_0011555 Double inlet left ventricle 'Double inlet left ventricle' SubClassOf 'Abnormality of the cardiovascular system' 'Double inlet left ventricle' SubClassOf 'Abnormal heart morphology' http://purl.obolibrary.org/obo/HP_0011565 Common atrium 'Common atrium' SubClassOf 'Abnormality of the cardiovascular system' 'Common atrium' SubClassOf 'Abnormal heart morphology' http://purl.obolibrary.org/obo/HP_0011504 Bull's eye maculopathy 'Bull's eye maculopathy' SubClassOf 'Abnormal macular morphology' http://purl.obolibrary.org/obo/HP_0011446 abnormality of higher mental function 'abnormality of higher mental function' SubClassOf 'abnormality of the nervous system' 'abnormality of higher mental function' SubClassOf 'Abnormality of nervous system physiology' http://purl.obolibrary.org/obo/HP_0011442 Abnormality of central motor function 'Abnormality of central motor function' SubClassOf 'abnormality of the nervous system' 'Abnormality of central motor function' SubClassOf 'Abnormality of nervous system physiology' http://purl.obolibrary.org/obo/MONDO_0003432 strabismus 'strabismus' SubClassOf 'ocular motility disease' http://purl.obolibrary.org/obo/HP_0008158 Hyperapobetalipoproteinemia 'Hyperapobetalipoproteinemia' SubClassOf 'abnormality of metabolism/homeostasis' 'Hyperapobetalipoproteinemia' SubClassOf 'Abnormality of lipid metabolism' http://purl.obolibrary.org/obo/HP_0011736 Primary hyperaldosteronism 'Primary hyperaldosteronism' SubClassOf 'abnormality of metabolism/homeostasis' 'Primary hyperaldosteronism' SubClassOf 'Abnormal circulating hormone level' 'Primary hyperaldosteronism' SubClassOf 'Abnormality of the endocrine system' http://www.ebi.ac.uk/efo/EFO_0006792 Lewy body dementia 'Lewy body dementia' SubClassOf 'inheres_in' some 'brain' http://www.ebi.ac.uk/efo/EFO_0004138 bundle branch block 'bundle branch block' SubClassOf 'cardiac ventricle disease' http://purl.obolibrary.org/obo/HP_0008066 Abnormal blistering of the skin 'Abnormal blistering of the skin' SubClassOf 'Abnormality of skin morphology' http://purl.obolibrary.org/obo/HP_0011659 Tetralogy of Fallot with absent pulmonary valve 'Tetralogy of Fallot with absent pulmonary valve' SubClassOf 'Abnormality of cardiovascular system morphology' http://purl.obolibrary.org/obo/HP_0045059 Hyperkeratotic papule 'Hyperkeratotic papule' SubClassOf 'Abnormality of skin morphology' 'Hyperkeratotic papule' SubClassOf 'epidermal thickening' http://purl.obolibrary.org/obo/HP_0011611 Interrupted aortic arch 'Interrupted aortic arch' SubClassOf 'Abnormality of the vasculature' 'Interrupted aortic arch' SubClassOf 'abnormality of the aorta' http://purl.obolibrary.org/obo/HP_0008365 Abnormality of the talus 'Abnormality of the talus' SubClassOf 'abnormality of limbs' 'Abnormality of the talus' SubClassOf 'abnormality of the foot' 'Abnormality of the talus' SubClassOf 'Abnormality of skeletal morphology' http://www.orpha.net/ORDO/Orphanet_255249 Leigh syndrome with nephrotic syndrome 'Leigh syndrome with nephrotic syndrome' SubClassOf 'Leigh syndrome' 'Leigh syndrome with nephrotic syndrome' SubClassOf 'Leigh disease' 'Leigh syndrome with nephrotic syndrome' SubClassOf 'Leigh syndrome' http://purl.obolibrary.org/obo/HP_0008388 Abnormality of the toenails 'Abnormality of the toenails' SubClassOf 'abnormality of the integument' 'Abnormality of the toenails' SubClassOf 'Abnormality of the nail' http://purl.obolibrary.org/obo/HP_0200042 Skin ulcer 'Skin ulcer' SubClassOf 'abnormality of the skin' 'Skin ulcer' SubClassOf 'Abnormality of skin morphology' http://www.ebi.ac.uk/efo/EFO_0006927 severe aplastic anemia 'severe aplastic anemia' SubClassOf 'has part' some ('quality' and ('inheres_in' some 'hematopoietic system') and ('has component' some 'abnormal')) http://www.ebi.ac.uk/efo/EFO_0006926 acquired aplastic anemia 'acquired aplastic anemia' SubClassOf 'has part' some ('quality' and ('inheres_in' some 'hematopoietic system') and ('has component' some 'abnormal')) http://purl.obolibrary.org/obo/HP_0011913 Lumbar hypertrichosis 'Lumbar hypertrichosis' SubClassOf 'abnormality of the skin' 'Lumbar hypertrichosis' SubClassOf 'abnormality of the integument' http://purl.obolibrary.org/obo/HP_0008348 Decreased circulating IgG2 level 'Decreased circulating IgG2 level' SubClassOf 'abnormality of the immune system' http://purl.obolibrary.org/obo/HP_0011950 Bronchiolitis 'Bronchiolitis' SubClassOf 'abnormality of the lung' 'Bronchiolitis' SubClassOf 'Recurrent respiratory infections' http://purl.obolibrary.org/obo/HP_0008277 Abnormality of zinc homeostasis 'Abnormality of zinc homeostasis' EquivalentTo 'has part' some ('quality' and ('inheres_in' some 'zinc ion homeostasis') and ('has component' some 'abnormal')) http://www.ebi.ac.uk/efo/EFO_0006835 pyoderma gangrenosum 'pyoderma gangrenosum' SubClassOf 'inheres in part of' some 'zone of skin' http://www.ebi.ac.uk/efo/EFO_0006834 septic shock 'septic shock' SubClassOf 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'cardiovascular system')) http://www.ebi.ac.uk/efo/EFO_0006851 malignant 'malignant' SubClassOf 'clinical modifier' 'malignant' SubClassOf http://www.ebi.ac.uk/efo/EFO_0010569 http://www.ebi.ac.uk/efo/EFO_0006852 metastatic 'metastatic' SubClassOf 'clinical modifier' 'metastatic' SubClassOf http://www.ebi.ac.uk/efo/EFO_0010569 http://purl.obolibrary.org/obo/HP_0011848 Abdominal colic 'Abdominal colic' SubClassOf 'pain in abdomen' http://www.ebi.ac.uk/efo/EFO_0006892 cutaneous precancerous condition 'cutaneous precancerous condition' SubClassOf 'inheres in part of' some 'zone of skin' http://purl.obolibrary.org/obo/HP_0011868 Sciatica 'Sciatica' SubClassOf 'abnormality of the skeletal system' 'Sciatica' SubClassOf 'back pain' http://www.ebi.ac.uk/efo/EFO_0006888 vascular malformation 'vascular malformation' SubClassOf 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'cardiovascular system')) http://purl.obolibrary.org/obo/HP_0011808 Decreased patellar reflex 'Decreased patellar reflex' SubClassOf 'abnormality of limbs' 'Decreased patellar reflex' SubClassOf 'Reduced tendon reflexes' 'Decreased patellar reflex' SubClassOf 'Hyporeflexia' 'Decreased patellar reflex' SubClassOf 'abnormality of the lower limb' http://purl.obolibrary.org/obo/HP_0008513 Bilateral conductive hearing impairment 'Bilateral conductive hearing impairment' SubClassOf 'abnormal ear morphology' 'Bilateral conductive hearing impairment' SubClassOf 'Hearing abnormality' http://www.ebi.ac.uk/efo/EFO_0004537 neonatal systemic lupus erythematosus 'neonatal systemic lupus erythematosus' SubClassOf 'systemic lupus erythematosus' 'neonatal systemic lupus erythematosus' SubClassOf 'lupus erythematosus' 'neonatal systemic lupus erythematosus' SubClassOf 'systemic lupus erythematosus' http://purl.obolibrary.org/obo/HP_0008404 Nail dystrophy 'Nail dystrophy' SubClassOf 'Abnormality of skin morphology' http://purl.obolibrary.org/obo/HP_0006159 Mesoaxial hand polydactyly 'Mesoaxial hand polydactyly' SubClassOf 'Abnormal upper limb bone morphology' http://purl.obolibrary.org/obo/HP_0031122 Two-raphe bicuspid aortic valve 'Two-raphe bicuspid aortic valve' SubClassOf 'Abnormal heart morphology' http://purl.obolibrary.org/obo/HP_0006101 Finger syndactyly 'Finger syndactyly' SubClassOf 'Abnormal digit morphology' http://purl.obolibrary.org/obo/HP_0008770 Obsessive-compulsive trait 'Obsessive-compulsive trait' SubClassOf 'Abnormality of nervous system physiology' http://www.ebi.ac.uk/efo/EFO_0008575 Osteochondrosis 'Osteochondrosis' SubClassOf 'osteonecrosis' 'Osteochondrosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0008576 Spinal Osteochondrosis 'Spinal Osteochondrosis' SubClassOf 'Osteochondrosis' 'Spinal Osteochondrosis' SubClassOf 'bone disease' http://www.ebi.ac.uk/efo/EFO_0008577 Juvenile Osteochondrosis 'Juvenile Osteochondrosis' SubClassOf 'Osteochondrosis' 'Juvenile Osteochondrosis' SubClassOf 'bone disease' http://purl.obolibrary.org/obo/HP_0008981 Calf muscle hypertrophy 'Calf muscle hypertrophy' SubClassOf 'abnormality of limbs' 'Calf muscle hypertrophy' SubClassOf 'abnormality of the lower limb' 'Calf muscle hypertrophy' SubClassOf 'Abnormality of muscle size' http://purl.obolibrary.org/obo/HP_0008997 Proximal muscle weakness in upper limbs 'Proximal muscle weakness in upper limbs' SubClassOf 'abnormality of limbs' 'Proximal muscle weakness in upper limbs' SubClassOf 'Abnormality of the upper limb' 'Proximal muscle weakness in upper limbs' SubClassOf 'Limb muscle weakness' http://purl.obolibrary.org/obo/HP_0008935 Generalized neonatal hypotonia 'Generalized neonatal hypotonia' SubClassOf 'Abnormal muscle tone' http://purl.obolibrary.org/obo/HP_0008942 Acute rhabdomyolysis 'Acute rhabdomyolysis' SubClassOf 'Abnormality of muscle morphology' http://www.orpha.net/ORDO/Orphanet_96147 Kleefstra syndrome due to 9q34 microdeletion 'Kleefstra syndrome due to 9q34 microdeletion' SubClassOf 'Kleefstra syndrome' 'Kleefstra syndrome due to 9q34 microdeletion' SubClassOf http://purl.obolibrary.org/obo/MONDO_0027407 http://purl.obolibrary.org/obo/HP_0008956 Proximal lower limb amyotrophy 'Proximal lower limb amyotrophy' SubClassOf 'abnormality of the lower limb' http://purl.obolibrary.org/obo/HP_0031284 Flushing 'Flushing' SubClassOf 'abnormality of the skin' 'Flushing' SubClassOf 'Abnormality of skin morphology' http://purl.obolibrary.org/obo/HP_0008873 Disproportionate short-limb short stature 'Disproportionate short-limb short stature' SubClassOf 'abnormality of limbs' http://www.ebi.ac.uk/efo/EFO_0008769 HT-SELEX 'HT-SELEX' SubClassOf 'DNA assay' 'HT-SELEX' SubClassOf 'SELEX-seq' http://purl.obolibrary.org/obo/HP_0006521 Pulmonary lymphangiectasia 'Pulmonary lymphangiectasia' SubClassOf 'Abnormality of the vasculature' 'Pulmonary lymphangiectasia' SubClassOf 'abnormality of the lymphatic system' 'Pulmonary lymphangiectasia' SubClassOf 'abnormality of the lung' 'Pulmonary lymphangiectasia' SubClassOf 'Abnormality of cardiovascular system morphology' http://purl.obolibrary.org/obo/HP_0006536 obstructive lung disease 'obstructive lung disease' SubClassOf 'abnormality of the lung' 'obstructive lung disease' SubClassOf 'Abnormality of the respiratory system' http://www.ebi.ac.uk/efo/EFO_0008757 gSELEX-Seq 'gSELEX-Seq' SubClassOf 'SELEX-seq' http://purl.obolibrary.org/obo/HP_0006467 Limited shoulder movement 'Limited shoulder movement' SubClassOf 'Abnormality of skeletal morphology' http://purl.obolibrary.org/obo/HP_0100022 abnormality of movement 'abnormality of movement' SubClassOf 'behavioral abnormality' 'abnormality of movement' SubClassOf 'Abnormality of nervous system physiology' http://purl.obolibrary.org/obo/HP_0100023 Recurrent hand flapping 'Recurrent hand flapping' SubClassOf 'Abnormality of nervous system physiology' http://purl.obolibrary.org/obo/HP_0006487 Bowing of the long bones 'Bowing of the long bones' SubClassOf 'abnormality of limbs' 'Bowing of the long bones' SubClassOf 'Abnormality of skeletal morphology' http://www.ebi.ac.uk/efo/EFO_0008622 female genital tract polyp 'female genital tract polyp' SubClassOf 'urogenital neoplasm' http://purl.obolibrary.org/obo/HP_0006829 Severe muscular hypotonia 'Severe muscular hypotonia' SubClassOf 'Abnormal muscle tone' http://purl.obolibrary.org/obo/HP_0006834 Developmental stagnation at onset of seizures 'Developmental stagnation at onset of seizures' SubClassOf 'Abnormality of nervous system physiology' 'Developmental stagnation at onset of seizures' SubClassOf 'Neurodevelopmental abnormality' http://purl.obolibrary.org/obo/HP_0006789 Mitochondrial encephalopathy 'Mitochondrial encephalopathy' SubClassOf 'Abnormality of nervous system physiology' http://www.ebi.ac.uk/efo/EFO_0008917 SELEX 'SELEX' SubClassOf 'DNA assay' 'SELEX' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'SELEX' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/HP_0006695 Atrioventricular canal defect 'Atrioventricular canal defect' SubClassOf 'Abnormality of the cardiovascular system' 'Atrioventricular canal defect' SubClassOf 'abnormal cardiac septum morphology' http://purl.obolibrary.org/obo/HP_0031678 atherosclerotic lesion 'atherosclerotic lesion' SubClassOf 'Abnormality of cardiovascular system morphology' http://purl.obolibrary.org/obo/MONDO_0018588 ALECT2 amyloidosis 'ALECT2 amyloidosis' SubClassOf 'amyloidosis' http://purl.obolibrary.org/obo/CHEBI_76004 dimethyl fumarate 'dimethyl fumarate' SubClassOf 'chemical entity' http://www.ebi.ac.uk/efo/EFO_0010602 brain age measurement 'brain age measurement' SubClassOf 'is_about' some 'aging' 'brain age measurement' SubClassOf 'measurement' 'brain age measurement' SubClassOf 'is_about' some 'brain' 'brain age measurement' SubClassOf 'brain measurement' http://www.ebi.ac.uk/efo/EFO_0010600 angiopoietin-1 receptor measurement 'angiopoietin-1 receptor measurement' SubClassOf 'endothelial growth factor measurement' http://www.ebi.ac.uk/efo/EFO_0010601 hepatitis A virus cellular receptor 1 measurement 'hepatitis A virus cellular receptor 1 measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0010558 preprint 'preprint' SubClassOf 'publication status' http://www.ebi.ac.uk/efo/EFO_0010559 anti-drug antibody measurement 'anti-drug antibody measurement' SubClassOf 'antibody measurement' 'anti-drug antibody measurement' SubClassOf 'is_about' some 'adverse effect' http://www.ebi.ac.uk/efo/EFO_0010557 lactose tolerance test 'lactose tolerance test' SubClassOf 'is_about' some 'lactose intolerance' 'lactose tolerance test' SubClassOf 'measurement' http://www.ebi.ac.uk/efo/EFO_0010576 liver fibrosis measurement 'liver fibrosis measurement' SubClassOf 'is_about' some 'liver' 'liver fibrosis measurement' SubClassOf 'liver disease biomarker' 'liver fibrosis measurement' SubClassOf 'is_about' some 'Hepatic fibrosis' http://www.ebi.ac.uk/efo/EFO_0010577 response to dimethyl fumarate 'response to dimethyl fumarate' SubClassOf 'has_input' some 'dimethyl fumarate' 'response to dimethyl fumarate' SubClassOf 'response to drug' http://www.ebi.ac.uk/efo/EFO_0010574 epithelial cell adhesion molecule measurement 'epithelial cell adhesion molecule measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0010575 vascular endothelial growth factor D measurement 'vascular endothelial growth factor D measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0010572 growth rate measurement 'growth rate measurement' SubClassOf 'body weights and measures' http://www.ebi.ac.uk/efo/EFO_0010573 kallikrein-11 measurement 'kallikrein-11 measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0010570 ventricular enlargement measurement 'ventricular enlargement measurement' SubClassOf 'is_about' some 'Ventriculomegaly' 'ventricular enlargement measurement' SubClassOf 'brain measurement' 'ventricular enlargement measurement' SubClassOf 'is_about' some 'brain ventricle' http://www.ebi.ac.uk/efo/EFO_0010578 complex trait 'complex trait' SubClassOf 'quality' http://www.ebi.ac.uk/efo/EFO_0010579 proteome 'proteome' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0010565 myopathy, congenital, progressive, with scoliosis 'myopathy, congenital, progressive, with scoliosis' SubClassOf 'Congenital myopathy' 'myopathy, congenital, progressive, with scoliosis' SubClassOf 'autosomal recessive disease' http://www.ebi.ac.uk/efo/EFO_0010566 intellectual developmental disorder 60 with seizures 'intellectual developmental disorder 60 with seizures' SubClassOf 'autosomal dominant disease' http://www.ebi.ac.uk/efo/EFO_0010563 neurodevelopmental disorder with structural brain anomalies and dysmorphic facies 'neurodevelopmental disorder with structural brain anomalies and dysmorphic facies' SubClassOf 'autosomal dominant disease' http://www.ebi.ac.uk/efo/EFO_0010564 glycosylphosphatidylinositol biosynthesis defect 21 'glycosylphosphatidylinositol biosynthesis defect 21' SubClassOf 'autosomal recessive disease' 'glycosylphosphatidylinositol biosynthesis defect 21' SubClassOf 'Disorder of lipid metabolism' 'glycosylphosphatidylinositol biosynthesis defect 21' SubClassOf 'disorder of GPI anchor biosynthesis' http://www.ebi.ac.uk/efo/EFO_0010561 neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies 'neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies' SubClassOf 'autosomal recessive disease' http://www.ebi.ac.uk/efo/EFO_0010562 neurodevelopmental disorder with cerebellar hypoplasia and spasticity 'neurodevelopmental disorder with cerebellar hypoplasia and spasticity' SubClassOf 'autosomal recessive disease' http://www.ebi.ac.uk/efo/EFO_0010560 neurodevelopmental disorder with ataxia, hypotonia, and microcephaly 'neurodevelopmental disorder with ataxia, hypotonia, and microcephaly' SubClassOf 'autosomal recessive disease' http://www.ebi.ac.uk/efo/EFO_0010569 clinical modifier 'clinical modifier' SubClassOf 'quality' http://www.ebi.ac.uk/efo/EFO_0010567 spastic tetraplegia and axial hypotonia, progressive 'spastic tetraplegia and axial hypotonia, progressive' SubClassOf 'autosomal recessive disease' http://www.ebi.ac.uk/efo/EFO_0010568 neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities 'neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities' SubClassOf 'autosomal dominant disease' http://www.ebi.ac.uk/efo/EFO_0010598 platelet endothelial cell adhesion molecule measurement 'platelet endothelial cell adhesion molecule measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0010599 ST2 protein measurement 'ST2 protein measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0010596 monocyte chemotactic protein 1 measurement 'monocyte chemotactic protein 1 measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0010597 NF-kappa-B essential modulator measurement 'NF-kappa-B essential modulator measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0010594 Fms-related tyrosine kinase 3 ligand measurement 'Fms-related tyrosine kinase 3 ligand measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0010595 heat shock protein beta-1 measurement 'heat shock protein beta-1 measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0010592 tumor necrosis factor ligand superfamily member 8 measurement 'tumor necrosis factor ligand superfamily member 8 measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0010593 cystatin B measurement 'cystatin B measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0010590 matrix metalloproteinase 12 measurement 'matrix metalloproteinase 12 measurement' SubClassOf 'matrix metalloproteinase measurement' http://www.ebi.ac.uk/efo/EFO_0010591 matrix metalloproteinase 7 measurement 'matrix metalloproteinase 7 measurement' SubClassOf 'matrix metalloproteinase measurement' http://www.ebi.ac.uk/efo/EFO_0010587 interleukin-2 receptor subunit alpha measurement 'interleukin-2 receptor subunit alpha measurement' SubClassOf 'cytokine measurement' http://www.ebi.ac.uk/efo/EFO_0010588 matrix metalloproteinase 1 measurement 'matrix metalloproteinase 1 measurement' SubClassOf 'matrix metalloproteinase measurement' http://www.ebi.ac.uk/efo/EFO_0010585 cancer antigen 15.3 measurement 'cancer antigen 15.3 measurement' SubClassOf 'blood protein measurement' 'cancer antigen 15.3 measurement' SubClassOf 'cancer biomarker measurement' http://www.ebi.ac.uk/efo/EFO_0010586 CD40 measurement 'CD40 measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0010583 alpha fetoprotein measurement 'alpha fetoprotein measurement' SubClassOf 'blood protein measurement' 'alpha fetoprotein measurement' SubClassOf 'cancer biomarker measurement' http://www.ebi.ac.uk/efo/EFO_0010584 cancer antigen 19.9 measurement 'cancer antigen 19.9 measurement' SubClassOf 'blood protein measurement' 'cancer antigen 19.9 measurement' SubClassOf 'cancer biomarker measurement' http://www.ebi.ac.uk/efo/EFO_0010581 organophosphate poisoning 'organophosphate poisoning' SubClassOf 'poisoning' http://www.ebi.ac.uk/efo/EFO_0010582 Morton Neuroma 'Morton Neuroma' SubClassOf 'neuroma' http://www.ebi.ac.uk/efo/EFO_0010580 blastic plasmacytoid dendritic cell neoplasm 'blastic plasmacytoid dendritic cell neoplasm' SubClassOf 'hematopoietic and lymphoid cell neoplasm' http://www.ebi.ac.uk/efo/EFO_0010589 matrix metalloproteinase 10 measurement 'matrix metalloproteinase 10 measurement' SubClassOf 'matrix metalloproteinase measurement' http://purl.obolibrary.org/obo/MONDO_0024519 renal hypodysplasia/aplasia 1 'renal hypodysplasia/aplasia 1' SubClassOf 'renal agenesis (disease)' http://purl.obolibrary.org/obo/MONDO_0014842 intellectual disability, autosomal dominant 41 'intellectual disability, autosomal dominant 41' SubClassOf 'Autosomal dominant non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014731 seizures-scoliosis-macrocephaly syndrome 'seizures-scoliosis-macrocephaly syndrome' SubClassOf 'syndromic intellectual disability' 'seizures-scoliosis-macrocephaly syndrome' SubClassOf 'Disorder of O-xylosylglycan synthesis' 'seizures-scoliosis-macrocephaly syndrome' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' http://purl.obolibrary.org/obo/MONDO_0014665 Charcot-Marie-Tooth disease axonal type 2V 'Charcot-Marie-Tooth disease axonal type 2V' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0014455 cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome 'cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome' SubClassOf 'Syndromic cataract' 'cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome' SubClassOf 'Neurometabolic disease' 'cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome' SubClassOf 'Syndromic genetic deafness' 'cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome' SubClassOf 'genetic endocrine growth disease' 'cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome' SubClassOf 'rare endocrine growth disease' 'cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0009410 Addison disease 'Addison disease' SubClassOf 'acquired chronic primary adrenal insufficiency' 'Addison disease' SubClassOf 'adrenocortical insufficiency' http://purl.obolibrary.org/obo/MONDO_0010432 thrombophilia, X-linked, due to factor 9 defect 'thrombophilia, X-linked, due to factor 9 defect' SubClassOf 'thrombophilia' 'thrombophilia, X-linked, due to factor 9 defect' SubClassOf 'Rare genetic coagulation disorder' http://purl.obolibrary.org/obo/HP_0003674 Onset 'Onset' SubClassOf 'clinical temporal measurement' http://purl.obolibrary.org/obo/MONDO_0007631 chromosome 16p12.1 deletion syndrome, 520kb 'chromosome 16p12.1 deletion syndrome, 520kb' SubClassOf 'syndrome caused by partial chromosomal deletion' 'chromosome 16p12.1 deletion syndrome, 520kb' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/HP_0001952 Glucose intolerance 'Glucose intolerance' SubClassOf 'Abnormal glucose homeostasis' http://purl.obolibrary.org/obo/MONDO_0027407 Kleefstra syndrome 1 'Kleefstra syndrome 1' SubClassOf 'Kleefstra syndrome' http://purl.obolibrary.org/obo/MONDO_0015446 atypical coarctation of aorta 'atypical coarctation of aorta' SubClassOf 'Aortic Coarctation' http://purl.obolibrary.org/obo/UBERON_0010743 meningeal cluster 'meningeal cluster' SubClassOf 'part of' some 'central nervous system' 'meningeal cluster' SubClassOf 'anatomical entity' http://purl.obolibrary.org/obo/HP_0200023 Priapism 'Priapism' SubClassOf 'Abnormality of the genital system' http://purl.obolibrary.org/obo/MONDO_0021239 urethra neoplasm 'urethra neoplasm' SubClassOf 'urethral disease' 'urethra neoplasm' SubClassOf 'urinary system neoplasm' http://purl.obolibrary.org/obo/MONDO_0021111 ureter neoplasm 'ureter neoplasm' SubClassOf 'urinary system neoplasm' 'ureter neoplasm' SubClassOf 'ureteral disease' http://purl.obolibrary.org/obo/MONDO_0002353 glottis neoplasm 'glottis neoplasm' SubClassOf 'laryngeal neoplasm' http://purl.obolibrary.org/obo/MONDO_0016743 tumor of meninges 'tumor of meninges' SubClassOf 'has modifier' some 'rare' 'tumor of meninges' SubClassOf 'Central Nervous System Neoplasm' http://purl.obolibrary.org/obo/MONDO_0016642 meningioma (disease) 'meningioma (disease)' SubClassOf 'tumor of meninges' http://purl.obolibrary.org/obo/MONDO_0018859 Leigh disease 'Leigh disease' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' 'Leigh disease' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Leigh disease' SubClassOf 'Syndrome with a symptomatic strabismus' 'Leigh disease' SubClassOf 'Supranuclear oculomotor palsy' 'Leigh disease' SubClassOf 'Neurometabolic disease' 'Leigh disease' SubClassOf 'Mitochondrial disease with eye involvement' 'Leigh disease' SubClassOf 'Mitochondrial disease with peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0000595 sexual disorder 'sexual disorder' SubClassOf 'psychiatric disorder' http://purl.obolibrary.org/obo/MONDO_0003432 strabismus 'strabismus' SubClassOf 'ocular motility disease'