Trait Ontology ID Link Definition Synonyms External IDs Angina pectoris EFO:0003913 http://www.ebi.ac.uk/efo/EFO_0003913 The symptom of paroxysmal pain consequent to MYOCARDIAL ISCHEMIA usually of distinctive character, location and radiation. It is thought to be provoked by a transient stressful situation during which the oxygen requirements of the MYOCARDIUM exceed that supplied by the CORONARY CIRCULATION. Angor Pectoris, Stenocardia, Stenocardias, angina, stable angina ICD10:I20, ICD9:413, MESH:D000787, MESH:D060050, MedDRA:10002383, NCIt:C66914, SNOMEDCT:194828000, SNOMEDCT:233819005 Aortic aneurysm MONDO:0005160 http://purl.obolibrary.org/obo/MONDO_0005160 A ruptured aneurysm located in the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta. ruptured abdominal aortic aneurysm, ruptured thoracic aneurysm, ruptured thoracic aortic aneurysm, ruptured thoracoabdominal aortic aneurysm, thoracic aortic aneurysm which HAS ruptured, thoracoabdominal aortic aneurysm, ruptured, abdominal aortic aneurysm, ruptured, aortic aneurysm (disease), aortic aneurysm of unspecified site, ruptured, aortic aneurysm, thoracic aortic aneurysm, ruptured DOID:3627, EFO:0001666, HP:0004942, ICD9:441.1, ICD9:441.3, ICD9:441.5, ICD9:441.6, MEDGEN:362, MESH:D001014, NANDO:2100101, NANDO:2200294, SCTID:73067008, UMLS:C0003486 Atrial fibrillation HP:0005110 http://purl.obolibrary.org/obo/HP_0005110 The ventricular response to atrial fibrillation is irregularly irregular because of the large number of atrial impulses that transit the atrioventricular node, making the ventricle partially refractory to further impulses. Atrial fibrillation can cause a number of manifestations including excessive ventricular response with angina pectoris or hypotension in susceptible individuals, syncope, systemic embolization, fatigue, or anxiety. These features should be coded separately. Quivering upper heart chambers resulting in irregular heartbeat SNOMEDCT_US:49436004, UMLS:C0004238 Aortic valve stenosis MONDO:0042981 http://purl.obolibrary.org/obo/MONDO_0042981 Aortic valve stenosis (AVS) is a condition characterized by narrowing of the heart's aortic valve opening. This narrowing prevents the valve from opening fully, which obstructs blood flow from the heart into the aorta, and onward to the rest of the body. AVS can range from mild to severe. Signs and symptoms typically develop when the narrowing of the opening is severe and may include chest pain (angina) or tightness; shortness of breath or fatigue (especially during exertion); feeling faint or fainting; heart palpitations; and heart murmur. Individuals with less severe congenital AVS (present at birth) may not develop symptoms until adulthood. Individuals with severe cases may faint without warning. AVS can have several causes including abnormal development before birth (such as having 1 or 2 valve leaflets instead of 3); calcium build-up on the valve in adulthood; and rheumatic fever. rheumatic aortic valve stenosis, AS, aortic stenosis, rheumatic aortic stenosis, valvular aortic stenosis DOID:1712, HP:0001650, ICD10CM:I06.0, ICD9:395.0, MEDGEN:1621, MESH:D001024, NANDO:2200306, NCIT:C50462, SCTID:60573004, SCTID:72011007, UMLS:C0003507, icd11.foundation:956813047 Coronary artery disorder MONDO:0005010 http://purl.obolibrary.org/obo/MONDO_0005010 Narrowing of the coronary arteries due to fatty deposits inside the arterial walls. The diagnostic criteria may include documented history of any of the following: documented coronary artery stenosis greater than or equal to 50% (by cardiac catheterization or other modality of direct imaging of the coronary arteries); previous coronary artery bypass surgery (CABG); previous percutaneous coronary intervention (PCI); previous myocardial infarction. (ACC) CHD (coronary heart disease), coronary arteriosclerosis, disease or disorder of coronary artery, CAD, coronary artery disease or disorder, coronary artery disease, coronary disease, coronary heart disease, disease of coronary artery, disorder of coronary artery DOID:3393, EFO:0001645, ICD9:410-414, ICD9:414.0, ICD9:414.9, MEDGEN:365486, MESH:D003324, NCIT:C26732, SCTID:414024009, UMLS:C1956346, icd11.foundation:1059873720 Coronary artery bypass EFO:0003776 http://www.ebi.ac.uk/efo/EFO_0003776 Surgical therapy of ischemic coronary artery disease achieved by grafting a section of saphenous vein, internal mammary artery, or other substitute between the aorta and the obstructed coronary artery distal to the obstructive lesion. Aortocoronary Bypass, Aortocoronary Bypasses, Artery Bypass, Coronary, Artery Bypasses, Coronary, BYPASS SURG CORONARY ARTERY, Bypass Surgery, Coronary Artery, Bypass, Aortocoronary, Bypass, Coronary Artery, Bypasses, Aortocoronary, Bypasses, Coronary Artery, CABG, CORONARY ARTERY BYPASS SURG, Coronary Artery Bypass Grafting, Coronary Artery Bypass Surgery, Coronary Artery Bypasses MESH:D001026, NCIt:C51998 Dead PATO:0001422 http://purl.obolibrary.org/obo/PATO_0001422 A viability quality inhering in a bearer by virtue of the cessation of the bearer's life. - - Cardiovascular disorder MONDO:0004995 http://purl.obolibrary.org/obo/MONDO_0004995 A disease involving the cardiovascular system. disease or disorder of cardiovascular system, cardiovascular disease (CVD), cardiovascular disease, cardiovascular disorder, cardiovascular system disease or disorder, cardiovascular system disease, circulatory system disease, disease of cardiovascular system, disorder of cardiovascular system DOID:1287, EFO:0000319, ICD10CM:I00-I99, ICD9:390-459, ICD9:420-429, ICD9:423, ICD9:423.8, ICD9:424, ICD9:429, ICD9:429.2, ICD9:429.7, ICD9:429.8, ICD9:429.81, ICD9:429.89, ICD9:459.89, ICD9:459.9, MEDGEN:2848, MESH:D002318, NANDO:1100005, NCIT:C2931, SCTID:49601007, UMLS:C0007222, icd11.foundation:424293435, icd11.foundation:426429380 Heart failure MONDO:0005252 http://purl.obolibrary.org/obo/MONDO_0005252 Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction. cardiac insufficiency, failure, heart, insufficiency, Cardiac, cardiac failure, heart failure EFO:0003144, ICD10CM:I50, ICD10WHO:I50, ICD9:428, ICD9:428.9, MEDGEN:6749, MESH:D006333, NCIT:C50577, SCTID:84114007, UMLS:C0018801, icd11.foundation:1458683894 Hypertension HP:0000822 http://purl.obolibrary.org/obo/HP_0000822 Hypertension is sustained elevation of resting systolic BP (140 mm Hg or higher), diastolic BP (90 mm Hg or higher), or both. Arterial hypertension, Systemic hypertension, High blood pressure SNOMEDCT_US:24184005, SNOMEDCT_US:38341003, UMLS:C0020538, UMLS:C0497247 Myocardial infarction MONDO:0005068 http://purl.obolibrary.org/obo/MONDO_0005068 Gross necrosis of the myocardium, as a result of interruption of the blood supply to the area, as in coronary thrombosis. MI, myocardial infarction, infarction (MI), myocardial, myocardial infarction, (MI), MI, heart attack, myocardial infarct, myocardial infarction (disease), myocardial infarction DOID:5844, EFO:0000612, HP:0001658, ICD10CM:I21, MEDGEN:10150, MESH:D009203, NANDO:2200248, NCIT:C27996, SCTID:22298006, UMLS:C0027051 Heart valve disorder MONDO:0002869 http://purl.obolibrary.org/obo/MONDO_0002869 A disease involving the cardial valve. disease or disorder of cardial valve, cardial valve disease or disorder, cardial valve disease, disease of cardial valve, disorder of cardial valve, disorder of heart valve, heart valve disorder, valvular heart disorder DOID:4079, EFO:0009551, ICD9:424.99, MEDGEN:5463, MESH:D006349, NANDO:2100105, NCIT:C45525, SCTID:368009, UMLS:C0018824, icd11.foundation:1121431779 Stroke HP:0001297 http://purl.obolibrary.org/obo/HP_0001297 Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain. Cerebral vascular events, Cerebrovascular accident, Cerebrovascular accidents, Stroke SNOMEDCT_US:230690007, UMLS:C0038454 Cardioembolic stroke EFO:1001976 http://www.ebi.ac.uk/efo/EFO_1001976 stroke caused by the blockage of blood flow in a brain vessel through a clot or other foreign matters pumped from the heart to the brain - MedDRA:10067816, PMID:7678184 Cerebrovascular disorder MONDO:0011057 http://purl.obolibrary.org/obo/MONDO_0011057 A disorder resulting from inadequate blood flow in the vessels that supply the brain. Representative examples include cerebrovascular ischemia, cerebral embolism, and cerebral infarction. CVA (cerebral vascular accident), cerebral infarction, cerebrovascular accident, stroke, CVA, cerebrovascular disease, cerebrovascular disorder DOID:6713, EFO:0003763, ICD10CM:I60-I69, ICD9:430-438, ICD9:434.91, ICD9:437.8, ICD9:437.9, MEDGEN:858, MESH:D002561, NCIT:C2938, SCTID:62914000, UMLS:C0007820, icd11.foundation:843843448 Large artery stroke MONDO:0005490 http://purl.obolibrary.org/obo/MONDO_0005490 This term is scheduled for obsoletion based on the fact that it is a not a disease. After obsoletion, this term will not have a replacement ID, but one could consider the following term: - - EFO:0005524 Deep venous thrombosis HP:0002625 http://purl.obolibrary.org/obo/HP_0002625 Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected. Deep vein thrombosis, Multiple deep venous thrombosis, Blood clot in a deep vein SNOMEDCT_US:128053003, UMLS:C0149871 Vein disorder MONDO:0004634 http://purl.obolibrary.org/obo/MONDO_0004634 A disease involving the vein. disease or disorder of vein, disease of vein, disorder of vein, vein disease or disorder, vein disease DOID:866, ICD9:453, MEDGEN:115992, NCIT:C35279, SCTID:90507008, UMLS:C0235522 Pulmonary embolism MONDO:0005279 http://purl.obolibrary.org/obo/MONDO_0005279 The obstruction of the pulmonary artery or one of its branches by an embolus, sometimes associated with infarction of the lung. embolism, pulmonary, pulmonary embolism (disease), pulmonary embolism, pulmonary embolus DOID:9477, EFO:0003827, HP:0002204, ICD10CM:I26, ICD10WHO:I26, ICD9:415.19, MEDGEN:11027, MESH:D011655, NCIT:C50713, SCTID:59282003, UMLS:C0034065, icd11.foundation:1014964218 Varicose veins HP:0002619 http://purl.obolibrary.org/obo/HP_0002619 Enlarged and tortuous veins. - SNOMEDCT_US:128060009, SNOMEDCT_US:12856003, SNOMEDCT_US:399989005, UMLS:C0042345 Venous thromboembolism MONDO:0005399 http://purl.obolibrary.org/obo/MONDO_0005399 Occlusion of the lumen of a vein by a thrombus that has migrated from a distal site via the blood stream. venous thromboembolism EFO:0004286, MEDGEN:348285, MESH:D054556, NCIT:C99537, UMLS:C1861172, icd11.foundation:1197943614 Hip osteoarthritis HP:0008843 http://purl.obolibrary.org/obo/HP_0008843 - Osteoarthritis of hip SNOMEDCT_US:239872002, UMLS:C0029410 Alzheimer disease MONDO:0004975 http://purl.obolibrary.org/obo/MONDO_0004975 A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language. Alzheimer dementia, Alzheimers disease, presenile and senile dementia, AD, Alzheimer disease, Alzheimer disease, familial, Alzheimer's dementia, Alzheimer's disease DOID:10652, HP:0002511, ICD10CM:G30, ICD10WHO:G30, ICD9:290.1, ICD9:331.0, MEDGEN:1853, MESH:D000544, NCIT:C2866, Orphanet:238616, SCTID:142811000119104, UMLS:C0002395, birnlex:2092, icd11.foundation:1611724421 Osteoarthritis MONDO:0005178 http://purl.obolibrary.org/obo/MONDO_0005178 A noninflammatory degenerative joint disease occurring chiefly in older persons, characterized by degeneration of the articular cartilage, hypertrophy of bone at the margins and changes in the synovial membrane. It is accompanied by pain and stiffness, particularly after prolonged activity. degenerative joint disease DOID:8398, HP:0002758, ICD10CM:M15-M19, ICD10CM:M19, ICD9:715.3, MEDGEN:45244, MESH:D010003, NCIT:C3293, SCTID:396275006, UMLS:C0029408, icd11.foundation:558562409 Type 2 diabetes mellitus MONDO:0005148 http://purl.obolibrary.org/obo/MONDO_0005148 A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity. diabetes mellitis type 2, diabetes mellitis type II, diabetes mellitus, noninsulin-dependent, 2, diabetes mellitus, noninsulin-dependent, association with, diabetes mellitus, noninsulin-dependent, late onset, diabetes mellitus, type II, insulin resistance, severe, digenic, NIDDM, T2D, T2DM - type 2 diabetes mellitus, T2DM, adult onset diabetes, adult-onset diabetes, diabetes mellitus, noninsulin-dependent, diabetes mellitus, type 2, diabetes, type 2, non-insulin dependent diabetes mellitus, non-insulin dependent diabetes, noninsulin dependent diabetes, noninsulin-dependent diabetes mellitus, type 2 diabetes mellitus non-insulin dependent, type 2 diabetes mellitus, type 2 diabetes, type II diabetes mellitus, type II diabetes DOID:9352, ICD10CM:E11, ICD10WHO:E11, MEDGEN:41523, MESH:D003924, NANDO:2200461, NCIT:C26747, OMIM:125853, SCTID:44054006, UMLS:C0011860, icd11.foundation:119724091 Glioblastoma MONDO:0018177 http://purl.obolibrary.org/obo/MONDO_0018177 The most malignant astrocytic tumor (WHO grade IV). It is composed of poorly differentiated neoplastic astrocytes and it is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. It may develop from diffuse astrocytoma WHO grade II or anaplastic astrocytoma (secondary glioblastoma, IDH-mutant), but more frequently, it manifests after a short clinical history de novo, without evidence of a less malignant precursor lesion (primary glioblastoma, IDH- wildtype). (Adapted from WHO) WHO grade IV glioma, grade IV adult astrocytic tumor, grade IV astrocytic neoplasm, grade IV astrocytic tumor, grade IV astrocytoma, GBM (glioblastoma), GBM, giant cell glioblastoma (histologic variant), glioblastoma (disease), glioblastoma multiforme (disease), glioblastoma multiforme, glioblastoma, gliosarcoma (histologic variant), grade IV adult astrocytic tumour, grade IV astrocytic tumour, spongioblastoma multiforme DOID:3068, EFO:0000519, GARD:0002491, HP:0012174, HP:0100843, ICDO:9440/3, MEDGEN:42228, MESH:D005909, MedDRA:10018336, MedDRA:10018337, NANDO:2200087, NCIT:C3058, NORD:1187, ONCOTREE:GB, ONCOTREE:GBM, Orphanet:360, SCTID:393563007, UMLS:C0017636 Chronic musculoskeletal pain EFO:0022195 http://www.ebi.ac.uk/efo/EFO_0022195 A chronic pain phenotype that originates in the bones, muscles, tendons or ligaments. - - Multiple sclerosis MONDO:0005301 http://purl.obolibrary.org/obo/MONDO_0005301 A progressive autoimmune disorder affecting the central nervous system resulting in demyelination. Patients develop physical and cognitive impairments that correspond with the affected nerve fibers. generalized multiple sclerosis, generalised multiple sclerosis DOID:2377, ICD10CM:G35, ICD10WHO:G35, ICD9:340, MEDGEN:10123, MESH:D009103, NANDO:1200023, NANDO:2100250, NANDO:2200904, NCIT:C3243, Orphanet:802, SCTID:24700007, UMLS:C0026769, icd11.foundation:1298865187 Mood disorder MONDO:0005371 http://purl.obolibrary.org/obo/MONDO_0005371 A cognitive disorder a disturbance in which the person's mood is hypothesized to be the main underlying feature. episodic mood disorder DOID:3324, EFO:0004247, ICD10CM:F30-F39, ICD9:296.99, MEDGEN:99866, MESH:D019964, NCIT:C92200, SCTID:46206005, UMLS:C0525045 Benign prostatic hyperplasia MONDO:0010811 http://purl.obolibrary.org/obo/MONDO_0010811 A non-cancerous nodular enlargement of the prostate gland. It is characterized by the presence of epithelial cell nodules, and stromal nodules containing fibrous and smooth muscle elements. It is the most common urologic disorder in men, causing blockage of urine flow. prostate hypertrophy, prostatic hyperplasia, benign, prostatic hypertrophy, BPH, benign hyperplasia of prostate, benign hyperplasia of the prostate, benign prostate hyperplasia, benign prostatic Hypertrophy, benign prostatic hyperplasia (disease), benign prostatic hyperplasia - BPH, benign prostatic hyperplasia, benign prostatic hypertrophy DOID:11132, EFO:0000284, HP:0008711, ICD10CM:N40, ICD9:600, ICD9:600.0, ICD9:600.20, MEDGEN:312369, MESH:D011470, NCIT:C2897, OMIM:600082, SCTID:266569009, UMLS:C1704272 Knee osteoarthritis HP:0005086 http://purl.obolibrary.org/obo/HP_0005086 - - SNOMEDCT_US:239873007, UMLS:C0409959 Lumbar spondylosis HP:0034931 http://purl.obolibrary.org/obo/HP_0034931 Arthrosis, i.e., of degenerative joint disease, affecting the lumbar vertebral column. Lumbar spine osteoarthritis - Osteoarthritis, hand MONDO:0006632 http://purl.obolibrary.org/obo/MONDO_0006632 Osteoarthritis of the hands usually happens as part of nodal osteoarthritis (a form of osteoarthritis that runs in families). This mainly affects women and often starts in your 40s or 50s, around the menopause (the time when menstruation ends and it¡¯s no longer possible to have children). - EFO:1000789, MEDGEN:472992, UMLS:C0263746 Parkinson disease MONDO:0005180 http://purl.obolibrary.org/obo/MONDO_0005180 A progressive degenerative disorder of the central nervous system characterized by loss of dopamine producing neurons in the substantia nigra and the presence of Lewy bodies in the substantia nigra and locus coeruleus. Signs and symptoms include tremor which is most pronounced during rest, muscle rigidity, slowing of the voluntary movements, a tendency to fall back, and a mask-like facial expression. PD, Parkinson disease, Parkinson's disease, paralysis agitans DOID:14330, ICD10CM:G20, ICD10WHO:G20, ICD9:332, ICD9:332.0, MEDGEN:10590, MESH:D010300, NANDO:1200010, NCIT:C26845, OMIMPS:168600, Orphanet:319705, SCTID:49049000, UMLS:C0030567, birnlex:2098, icd11.foundation:296066191 Lewy body dementia MONDO:0007488 http://purl.obolibrary.org/obo/MONDO_0007488 A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease. cortical Lewy body disease, dementia, Lewy body, lewy body dementia, susceptibility to, DLB, Lewy body dementia, Lewy body disease, dementia with Lewy bodies DOID:12217, EFO:0006792, ICD10CM:G31.83, ICD9:331.82, MEDGEN:199874, NCIT:C84826, OMIM:127750, Orphanet:1648, SCTID:312991009, UMLS:C0752347 Preeclampsia HP:0100602 http://purl.obolibrary.org/obo/HP_0100602 Pregnancy-induced hypertension in association with significant amounts of protein in the urine. Pre-eclampsia SNOMEDCT_US:15394000, SNOMEDCT_US:398254007, UMLS:C0032914 Depression HP:0000716 http://purl.obolibrary.org/obo/HP_0000716 Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior. Depressive disorder, Depressive episode, Depressivity, Depression SNOMEDCT_US:21061000119107, SNOMEDCT_US:35489007, SNOMEDCT_US:78667006, UMLS:C0011581 Pancreatic cancer, susceptibility to, 2 MONDO:0013235 http://purl.obolibrary.org/obo/MONDO_0013235 Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the BRCA2 gene. pancreatic cancer 2, pancreatic cancer, susceptibility to, type 2, BRCA2 familial pancreatic carcinoma, familial pancreatic carcinoma caused by mutation in BRCA2, pancreatic cancer, susceptibility to, 2 GARD:0027845, MEDGEN:461896, OMIM:613347, UMLS:C3150546 Birth weight EFO:0004344 http://www.ebi.ac.uk/efo/EFO_0004344 The mass or quantity of heaviness of an individual at?BIRTH. It is expressed by units of pounds or kilograms. birthweight MESH:D001724, NCIt:C76325, SNOMEDCT:364589006 Forced expiratory volume EFO:0004314 http://www.ebi.ac.uk/efo/EFO_0004314 Measure of the maximum amount of air that can be expelled in a given number of seconds during a??FORCED VITAL CAPACITY??determination . It is usually given as??FEV??followed by a subscript indicating the number of seconds over which the measurement is made, although it is sometimes given as a percentage of forced vital capacity. FEV1, FEVt, timed vital capacity MESH:D005541, MedDRA:10016984, NCIt:C120933 FEV/FVC ratio EFO:0004713 http://www.ebi.ac.uk/efo/EFO_0004713 - FEV/FEC ratio, FEV/FVC, FEV1/FVC - Vital capacity EFO:0004312 http://www.ebi.ac.uk/efo/EFO_0004312 The volume of air that is exhaled by a maximal expiration following a maximal inspiration. FVC, forced vital capacity MESH:D014797, MedDRA:10047579, NCIt:C111361, SNOMEDCT:268379003 Peak expiratory flow EFO:0009718 http://www.ebi.ac.uk/efo/EFO_0009718 The maximum rate of gas flow, beginning at the point of peak inspiratory capacity, that can be sustained during forced exhalation for a defined period of time. This test is most often used in combination with other studies of lung function to diagnose and monitor obstructive and restrictive lung disease(s). [ NCI ] PEF NCIt:C41372, PMID:30804560 Diminishment of relationship seeking HP:5200320 http://purl.obolibrary.org/obo/HP_5200320 A reduction in the tendency of a person to seek new interpersonal relationships or maintain existing relationships. Decreased seeking of relationships, Introversion, Self-isolation, Social isolation - Loneliness measurement EFO:0007865 http://www.ebi.ac.uk/efo/EFO_0007865 Quantification of some aspect of loneliness, such as severity or presence/absence, generally through administration of a standardised questionnaire such as the 3-Item Leave Behind Questionnaire (LBQ). - - Schizophrenia MONDO:0005090 http://purl.obolibrary.org/obo/MONDO_0005090 A major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality. schizophrenia 12, SCZD, schizophrenia (disease), schizophrenia DOID:5419, HP:0100753, ICD10CM:F20, ICD10WHO:F20, ICD9:295, ICD9:295.8, ICD9:295.80, ICD9:295.85, ICD9:295.9, ICD9:295.90, MEDGEN:48574, NCIT:C3362, OMIM:181500, Orphanet:3140, SCTID:58214004, UMLS:C0036341, birnlex:2104, icd11.foundation:1683919430 Intelligence EFO:0004337 http://www.ebi.ac.uk/efo/EFO_0004337 The ability to learn and to deal with new situations and to deal effectively with tasks involving abstractions. cognitive ability, general cognitive ability, general cognitive function MESH:D007360, SNOMEDCT:22851009 Lung cancer MONDO:0008903 http://purl.obolibrary.org/obo/MONDO_0008903 A malignant neoplasm involving the lung. adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation, adenocarcinoma of lung, somatic, lung cancer, protection against, autosomal dominant, somatic mutation, lung cancer, resistance to, autosomal dominant, somatic mutation, lung cancer, somatic, lung cancer, susceptibility to, autosomal dominant, somatic mutation, nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation, nonsmall cell lung cancer, somatic, nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation, cancer of lung, lung cancer, malignant lung neoplasm, malignant lung tumor, malignant lung tumour, malignant neoplasm of lung, malignant neoplasm of the lung, malignant tumor of lung, malignant tumor of the lung, malignant tumour of lung, malignant tumour of the lung DOID:1324, ICD9:162.3, ICD9:162.4, ICD9:162.5, ICD9:162.8, ICD9:162.9, MEDGEN:66885, NCIT:C7377, OMIM:211980, SCTID:363358000, UMLS:C0242379 Sporadic Creutzfeldt-Jakob disease MONDO:0016079 http://purl.obolibrary.org/obo/MONDO_0016079 A rare sporadic human prion disease characterized by rapidly progressive cognitive impairment in combination with variable neurologic signs and symptoms including myoclonus, visual or cerebellar problems, pyramidal or extrapyramidal features, or akinetic mutism. Brain imaging may show high signal intensity in caudate, putamen, and/or cortical regions, and a typical EEG pattern consisting of generalized periodic sharp wave complexes is observed in many cases. The disease is invariably fatal within less than two years. Neuropathologic examination reveals deposition of abnormal prion protein in brain tissue, as well as spongiform change and massive neuronal loss and gliosis. sporadic CJD GARD:0006956, ICD9:046.19, MEDGEN:377682, MedDRA:10011384, NANDO:1200187, Orphanet:204, SCTID:713060000, UMLS:C1852467, icd11.foundation:1553463690 Urolithiasis MONDO:0024647 http://purl.obolibrary.org/obo/MONDO_0024647 Stone(s) within the urinary tract. calculus, kidney stone, urinary stones, urolithiasis DOID:0080653, ICD10CM:N20-N23, ICD10CM:N21, ICD10WHO:N20-N23, MEDGEN:141536, MESH:D052878, NCIT:C114688, SCTID:95566004, UMLS:C0451641, icd11.foundation:1746821938 Major depressive disorder MONDO:0002009 http://purl.obolibrary.org/obo/MONDO_0002009 An episode of depression lasting two or more weeks without an intervening episode of mania. major depressive disorder 1, major depressive disorder 2, major depressive disorder and accelerated response to antidepressant drug treatment, major depressive disorder, response to citalopram therapy in, unipolar depression, susceptibility to, major depression, major depressive disorder, unipolar depression MFOMD:0000143, DOID:1470, EFO:0003761, ICD9:296.2, ICD9:296.20, ICD9:296.3, ICD9:296.30, MEDGEN:266123, MESH:D003865, NCIT:C35094, OMIM:608516, SCTID:370143000, UMLS:C1269683 Bipolar disorder MONDO:0004985 http://purl.obolibrary.org/obo/MONDO_0004985 A disorder of the brain that causes unusual shifts in mood, energy, activity levels and the ability to carry out day-to-day tasks. Often these moods range and shift from periods of elation and energized behavior to those of hopelessness and depression. bipolar depression, bipolar disorder manic phase, manic bipolar I disorder, manic bipolar affective disorder, manic depression, manic depressive disorder, manic disorder, mixed bipolar disorder, MAFD, bipolar disorder, major affective disorder, manic-depression DOID:3312, ICD10CM:F31, ICD10WHO:F31, ICD9:296.40, ICD9:296.60, ICD9:296.80, ICD9:296.89, MEDGEN:2649, MESH:D001714, NCIT:C34423, SCTID:13746004, UMLS:C0005586, birnlex:12754 Anorexia nervosa MONDO:0005351 http://purl.obolibrary.org/obo/MONDO_0005351 A disorder most often seen in adolescent females characterized by a refusal to maintain a minimally normal body weight, an intense fear of gaining weight, a disturbance in body image, and, in postmenarcheal females, the development of amenorrhea. - DOID:8689, ICD10CM:F50.0, ICD9:307.1, MEDGEN:316, MESH:D000856, NCIT:C34387, Orphanet:36297, SCTID:56882008, UMLS:C0003125, icd11.foundation:263852475 Attention deficit hyperactivity disorder HP:0007018 http://purl.obolibrary.org/obo/HP_0007018 Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient. ADHD, Attention deficit disorder, Attention deficit, Attention deficit-hyperactivity disorder, Attention deficits, Childhood attention deficit/hyperactivity disorder SNOMEDCT_US:406506008, SNOMEDCT_US:7461003, UMLS:C1263846 Autism spectrum disorder MONDO:0005258 http://purl.obolibrary.org/obo/MONDO_0005258 A spectrum of developmental disorders that includes autism, and Asperger syndrome. Signs and symptoms include poor communication skills, defective social interactions, and repetitive behaviors. autism spectrum disorder, autistic spectrum disorder, pervasive developmental disorder - not otherwise specified, pervasive developmental disorders DOID:0060041, EFO:0003756, MEDGEN:307153, NCIT:C88412, Orphanet:106, SCTID:408856003, UMLS:C1510586, icd11.foundation:437815624 Insomnia MONDO:0013600 http://purl.obolibrary.org/obo/MONDO_0013600 A sleep disorder characterized by difficulty in falling asleep and/or remaining asleep. delayed sleep phase syndrome, susceptibility to, DSPD, DSPS, insomnia (disease), insomnia EFO:0004698, HP:0100785, ICD10CM:G47.0, ICD10WHO:G47.0, ICD9:780.52, MEDGEN:214589, MESH:D007319, NCIT:C28286, SCTID:193462001, UMLS:C0917801 Neuroticism measurement EFO:0007660 http://www.ebi.ac.uk/efo/EFO_0007660 Quantification of some aspect of neuroticism or neurotic behaviour, such as severity or frequency of neurotic behaviour. This is usually assessed via a standardised questionnaire. - - Open-angle glaucoma MONDO:0005338 http://purl.obolibrary.org/obo/MONDO_0005338 Chronic outflow obstruction of the eye's drainage canals that can lead to increased internal eye pressure and optic nerve damage. glaucoma, primary open angle, primary open angle glaucoma, POAG, open angle glaucoma, pigmentary glaucoma DOID:1067, EFO:0004190, ICD10CM:H40.1, ICD9:365.1, ICD9:365.10, ICD9:365.13, MEDGEN:6611, MESH:D005902, NCIT:C34641, SCTID:46168003, SCTID:84494001, UMLS:C0017612 Left ventricular ejection fraction measurement EFO:0008373 http://www.ebi.ac.uk/efo/EFO_0008373 quantification of the volumetric fraction of blood pumped out of the left ventricle - PMID:28763429 Left ventricular mass EFO:0009289 http://www.ebi.ac.uk/efo/EFO_0009289 A quantitative measure calculated as the difference between the epicardium delimited volume and the left ventricular chamber volume LV mass PMID:29403010, http://purl.obolibrary.org/obo/NCIT_C35462 Heart function attribute OBA:2045275 http://purl.obolibrary.org/obo/OBA_2045275 The functionality of a heart. functionality of heart - Atopic dermatitis HP:0001047 http://purl.obolibrary.org/obo/HP_0001047 In infants, atopic dermatitis is known as infantile eczema. Allergic eczema, Atopic dermatitis, chronic, Atopic eczema, Dermatitis, Atopic, Infantile eczema, Neurodermatitis, Prurigo Besnier, Baby eczema SNOMEDCT_US:200775004, SNOMEDCT_US:24079001, UMLS:C0011615, UMLS:C4280605 Breast cancer MONDO:0007254 http://purl.obolibrary.org/obo/MONDO_0007254 A primary or metastatic malignant neoplasm involving the breast. The vast majority of cases are carcinomas arising from the breast parenchyma or the nipple. Malignant breast neoplasms occur more frequently in females than in males. breast tumor, mammary tumor, primary breast cancer, breast cancer, breast tumour, cancer of breast, malignant breast neoplasm, malignant breast tumor, malignant breast tumour, malignant neoplasm of breast, malignant neoplasm of the breast, malignant tumor of breast, malignant tumor of the breast, malignant tumour of breast, malignant tumour of the breast, mammary tumour DOID:1612, ICD10CM:C50, ICD9:174.8, MEDGEN:651, NCIT:C9335, SCTID:254837009, UMLS:C0006142, icd11.foundation:1047754165 Extraversion EFO:0004317 http://www.ebi.ac.uk/efo/EFO_0004317 A state in which attention is largely directed outward from the self. extraversion (psychology), extroversion MESH:D005120 Agreeableness measurement EFO:0007915 http://www.ebi.ac.uk/efo/EFO_0007915 quantification of agreeableness, usually through administration of standardised questionnaire such as the Big Five Inventory (BFI) - PMID:27918536 Conscientiousness measurement EFO:0007912 http://www.ebi.ac.uk/efo/EFO_0007912 quantification of conscientiousness, usually through administration of standardised questionnaire such as the Big Five Inventory (BFI) - PMID:27918536 Openness measurement EFO:0007914 http://www.ebi.ac.uk/efo/EFO_0007914 quantification of openness, usually through administration of standardised questionnaire such as the Big Five Inventory (BFI) - PMID:27918536 Hypothyroidism MONDO:0005420 http://purl.obolibrary.org/obo/MONDO_0005420 Abnormally low levels of thyroid hormone. underactive thyroid, hypothyroidism DOID:1459, EFO:0004705, ICD9:244.9, MEDGEN:6991, MESH:D007037, NANDO:2100120, NCIT:C26800, SCTID:40930008, UMLS:C0020676, icd11.foundation:1722092627 Body fat percentage EFO:0007800 http://www.ebi.ac.uk/efo/EFO_0007800 Quantification of the amount of body fat as a percentage of total body mass, calculated as either total mass of fat divided by total body mass or one of a number of more complex weighted equations. Body fat includes essential body fat and storage body fat. - - Body mass index EFO:0004340 http://www.ebi.ac.uk/efo/EFO_0004340 An indicator of body density as determined by the relationship of BODY WEIGHT?to?BODY HEIGHT. BMI=weight (kg)/height squared (m2). BMI correlates with body fat (ADIPOSE TISSUE). Their relationship varies with age and gender. For adults, BMI falls into these categories: below 18.5 (underweight); 18.5-24.9 (normal); 25.0-29.9 (overweight); 30.0 and above (obese). (National Center for Health Statistics, Centers for Disease Control and Prevention) BMI, Quetelet's Index ICD9:V85-V85.99, MESH:D015992, MedDRA:10005894, NCIt:C16358, SNOMEDCT:60621009 Visceral adipose tissue quantity OBA:2045224 http://purl.obolibrary.org/obo/OBA_2045224 The amount of a visceral fat. amount of visceral fat - Waist circumference EFO:0007915 http://www.ebi.ac.uk/efo/EFO_0007915 quantification of agreeableness, usually through administration of standardised questionnaire such as the Big Five Inventory (BFI) - PMID:27918536 Waist-hip ratio EFO:0004343 http://www.ebi.ac.uk/efo/EFO_0004343 The waist circumference measurement divided by the hip circumference measurement. For both men and women, a waist-to-hip ratio (WHR) of 1.0 or higher is considered at risk for undesirable health consequences, such as heart disease and ailments associated with OVERWEIGHT. A healthy WHR is 0.90 or less for men, and 0.80 or less for women. (National Center for Chronic Disease Prevention and Health Promotion, 2004) - MESH:D049629, NCIt:C17651 Ischemic stroke HP:0002140 http://purl.obolibrary.org/obo/HP_0002140 Acute ischemic stroke (AIS) is defined by the sudden loss of blood flow to an area of the brain with the resulting loss of neurologic function. It is caused by thrombosis or embolism that occludes a cerebral vessel supplying a specific area of the brain. During a vessel occlusion, there is a core area where damage to the brain is irreversible and an area of penumbra where the brain has lost function owing to decreased blood flow but is not irreversibly injured. Ischaemic stroke SNOMEDCT_US:422504002, UMLS:C0948008 Anxiety MONDO:0011918 http://purl.obolibrary.org/obo/MONDO_0011918 - anxiety-related personality traits, anxiety MEDGEN:1613, MESH:D001007, OMIM:607834, UMLS:C0003467, icd11.foundation:2027043655 Multisite chronic pain EFO:0010100 http://www.ebi.ac.uk/efo/EFO_0010100 A chronic pain phenotype that is defined as the number of sites on the body at which chronic pain is experienced. - - Ankylosing spondylitis MONDO:0005306 http://purl.obolibrary.org/obo/MONDO_0005306 An autoimmune chronic inflammatory disorder characterized by inflammation in the vertebral joints of the spine and sacroiliac joints. It predominantly affects young males. Patients present with stiffness and pain in the spine. ankylosing spondylarthritis DOID:7147, EFO:0003898, ICD10CM:M45, ICD10WHO:M45, ICD9:720.0, MEDGEN:11561, MESH:D013167, NANDO:1200870, NCIT:C84564, Orphanet:825, SCTID:9631008, UMLS:C0038013 Celiac disease MONDO:0005130 http://purl.obolibrary.org/obo/MONDO_0005130 An autoimmune genetic disorder with an unknown pattern of inheritance that primarily affects the digestive tract. It is caused by intolerance to dietary gluten. Consumption of gluten protein triggers an immune response which damages small intestinal villi and prevents adequate absorption of nutrients. Clinical signs include abdominal cramping, diarrhea or constipation and weight loss. If untreated, the clinical course may progress to malnutrition, anemia, osteoporosis and an increased risk of intestinal malignancies. However, the prognosis is favorable with successful avoidance of gluten in the diet. gluten intolerance, celiac disease, celiac sprue, coeliac sprue, gluten-induced enteropathy, non tropical sprue DOID:10608, EFO:0001060, ICD10CM:K90.0, ICD9:579.0, MEDGEN:3291, MESH:D002446, NCIT:C26714, OMIMPS:212750, Orphanet:555, SCTID:396331005, UMLS:C0007570, icd11.foundation:2005943638 Inflammatory bowel disease MONDO:0005265 http://purl.obolibrary.org/obo/MONDO_0005265 A spectrum of small and large bowel inflammatory diseases of unknown etiology. It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type. IBD, autoimmune bowel disorder, inflammatory bowel disease DOID:0050589, EFO:0003767, ICD9:558.9, MEDGEN:43877, MESH:D015212, NANDO:2100259, NCIT:C3138, OMIMPS:266600, SCTID:24526004, UMLS:C0021390 Myasthenia gravis MONDO:0009688 http://purl.obolibrary.org/obo/MONDO_0009688 Myasthenia gravis (MG) is a rare, clinically heterogeneous, autoimmune disorder of the neuromuscular junction characterized by fatigable weakness of voluntary muscles. MG, acquired myasthenia, autoimmune myasthenia gravis, myasthenia gravis DOID:437, EFO:0004991, GARD:0007122, ICD10CM:G70.0, ICD9:358.0, ICD9:358.00, MEDGEN:7764, MESH:D009157, MedDRA:10028417, NANDO:1200020, NANDO:2100252, NANDO:2200906, NCIT:C60989, NORD:1478, OMIM:254200, Orphanet:589, SCTID:91637004, UMLS:C0026896, icd11.foundation:1270100227 Pernicious anemia MONDO:0008228 http://purl.obolibrary.org/obo/MONDO_0008228 Megaloblastic anemia caused by vitamin B-12 deficiency due to impaired absorption. The impaired absorption of vitamin B-12 is secondary to atrophic gastritis and loss of gastric parietal cells. Addison's anemia, Addison-Biermer anemia, Biermer disease, acquired pernicious anemia, juvenile onset pernicious anemia, Addison anaemia, Addison anemia, Addison-Biermer anaemia, Biermer anaemia, Biermer anemia, acquired pernicious anaemia, anaemia pernicious, anemia pernicious, intrinsic factor deficiency, juvenile onset pernicious anaemia, pernicious anemia DOID:13381, EFO:0005576, GARD:0027356, ICD10CM:D51.0, ICD9:281.0, MEDGEN:1531, MESH:D000752, NCIT:C2871, OMIM:170900, Orphanet:120, SCTID:84027009, UMLS:C0002892 Rheumatoid arthritis MONDO:0008383 http://purl.obolibrary.org/obo/MONDO_0008383 A chronic, systemic autoimmune disorder characterized by inflammation in the synovial membranes and articular surfaces. It manifests primarily as a symmetric, erosive polyarthritis that spares the axial skeleton and is typically associated with the presence in the serum of rheumatoid factor. RA, rheumatoid arthritis DOID:7148, EFO:0000685, HP:0001370, ICD9:714.0, MEDGEN:2078, MESH:D001172, NCIT:C2884, OMIM:180300, Orphanet:284130, SCTID:69896004, UMLS:C0003873, icd11.foundation:576319925 Systemic lupus erythematosus HP:0002725 http://purl.obolibrary.org/obo/HP_0002725 This is a bundled term that describes a disease rather than a phenotypic feature, but is left for convenience for annotations of lupus conceived of as a feature of another disease. SLE SNOMEDCT_US:55464009, UMLS:C0024141 Type 1 diabetes mellitus MONDO:0005147 http://purl.obolibrary.org/obo/MONDO_0005147 A chronic condition characterized by minimal or absent production of insulin by the pancreas. diabetes mellitis type 1, diabetes mellitis type I, IDDM, T1D, T1DM, immune mediated diabetes, insulin dependent diabetes, juvenile diabetes, type 1 diabetes, type I diabetes mellitus, type I diabetes DOID:9744, ICD10CM:E10, ICD10WHO:E10, MEDGEN:41522, MESH:D003922, NANDO:2200460, NCIT:C2986, OMIM:222100, Orphanet:243377, SCTID:46635009, UMLS:C0011854, icd11.foundation:1651053999 Senile cataract MONDO:0004847 http://purl.obolibrary.org/obo/MONDO_0004847 A cataract with no obvious cause occurring in persons over 50 years old. - DOID:9669, ICD10CM:H25, ICD10WHO:H25, ICD9:366.1, ICD9:366.10, MEDGEN:11372, NCIT:C35012, SCTID:39450006, UMLS:C0036646 Age-related macular degeneration MONDO:0005150 http://purl.obolibrary.org/obo/MONDO_0005150 Age-related loss of vision in the central portion of the retina (macula), secondary to retinal degeneration. AMD, ARMD, Senile macular retinal degeneration, age-related macular degeneration, macular degeneration, age-related DOID:10871, EFO:0001365, GARD:0027715, ICD9:362.50, MEDGEN:116576, NCIT:C84391, OMIMPS:603075, Orphanet:279, SCTID:267718000, UMLS:C0242383, birnlex:12812, icd11.foundation:1514301548 Glaucoma MONDO:0005041 http://purl.obolibrary.org/obo/MONDO_0005041 Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor. glaucoma (disease), glaucoma DOID:1686, HP:0000501, ICD10CM:H40, ICD10CM:H40-H42, ICD10WHO:H40, ICD10WHO:H40-H42, ICD9:365, ICD9:365.89, ICD9:365.9, MEDGEN:42224, MESH:D005901, NCIT:C26782, SCTID:23986001, UMLS:C0017601, icd11.foundation:499924848 Myopia HP:0000545 http://purl.obolibrary.org/obo/HP_0000545 An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. Close sighted, Near sighted, Near sightedness, Nearsightedness SNOMEDCT_US:57190000, UMLS:C0027092 Diabetic retinopathy MONDO:0005266 http://purl.obolibrary.org/obo/MONDO_0005266 A chronic, pathological complication associated with diabetes mellitus, where retinal damages are incurred due to microaneurysms in the vasculature of the retina, progressively leading to abnormal blood vessel growth, and swelling and leaking of fluid from blood vessels, resulting in vision loss or blindness. - DOID:8947, EFO:0003770, ICD9:362.0, MEDGEN:3786, MESH:D003930, NCIT:C34538, SCTID:4855003, UMLS:C0011884, icd11.foundation:1006882070 Renal cell carcinoma MONDO:0005086 http://purl.obolibrary.org/obo/MONDO_0005086 A carcinoma that arises from glandular epithelial cells of the kidney RCC, kidney adenocarcinoma, renal cell adenocarcinoma, renal cell carcinoma (disease), renal cell carcinoma DOID:4450, EFO:0000681, GARD:0013215, HP:0005584, ICD9:189.0, MEDGEN:766, MESH:D002292, MedDRA:10067946, NANDO:2200045, NORD:1657, ONCOTREE:RCC, Orphanet:217071, SCTID:702391001, UMLS:C0007134 Peripheral arterial stenosis HP:0004950 http://purl.obolibrary.org/obo/HP_0004950 Narrowing of peripheral arteries with reduction of blood flow to the limbs. This feature may be quantified as an ankle-brachial index of less than 0.9, and may be manifested clinically as claudication. Arterial disease of legs, Occlusive arterial disease, Occlusive vascular disease, Peripheral artery occlusive disease, Peripheral artery disease, Peripheral vascular disease SNOMEDCT_US:399957001, SNOMEDCT_US:400047006, UMLS:C0085096, UMLS:C1704436 Abdominal aortic aneurysm HP:0005112 http://purl.obolibrary.org/obo/HP_0005112 An abnormal localized widening (dilatation) of the abdominal aorta. Dilatation of the abdominal aorta UMLS:C4025248 Phlebitis MONDO:0004625 http://purl.obolibrary.org/obo/MONDO_0004625 Inflammation of a vein. inflammation of vein, vein inflammation DOID:864, EFO:1001395, MEDGEN:18425, MESH:D010689, NCIT:C38003, SCTID:61599003, UMLS:C0031542 Neuroimaging measurement EFO:0004346 http://www.ebi.ac.uk/efo/EFO_0004346 Non-invasive methods of visualizing and measuring the CENTRAL NERVOUS SYSTEM, especially the brain, by various imaging modalities e.g. CT scan brain imaging - Amyotrophic lateral sclerosis HP:0007354 http://purl.obolibrary.org/obo/HP_0007354 - Lou Gehrig's disease SNOMEDCT_US:86044005, UMLS:C0002736 Dilatation of the cerebral artery HP:0004944 http://purl.obolibrary.org/obo/HP_0004944 Aneurysm is considered a severe form of dilatation. Cerebral aneurysm, Cerebral artery aneurysm, Intracranial aneurysm, Brain aneurysm SNOMEDCT_US:128608001, UMLS:C0751003, UMLS:C1290398 Ulcerative colitis MONDO:0005101 http://purl.obolibrary.org/obo/MONDO_0005101 An inflammatory bowel disease involving the mucosal surface of the large intestine and rectum. It may present with an acute or slow onset and follows an intermittent or continuous course. Signs and symptoms include abdominal pain, diarrhea, fever, weight loss, and intestinal hemorrhage. left-sided ulcerative colitis, colitis ulcerative, ulcerative colitis (disease), ulcerative colitis DOID:8577, EFO:0000729, HP:0100279, ICD10CM:K51, ICD10WHO:K51, ICD9:556, ICD9:556.5, ICD9:556.8, ICD9:556.9, MEDGEN:3532, MESH:D003093, NANDO:1200449, NANDO:2200920, NCIT:C2952, Orphanet:771, SCTID:64766004, UMLS:C0009324, icd11.foundation:784669405 Inflammatory bowel disease 1 MONDO:0009960 http://purl.obolibrary.org/obo/MONDO_0009960 Any inflammatory bowel disease in which the cause of the disease is a mutation in the NOD2 gene. Crohn disease-associated growth failure, inflammatory bowel disease 1, Crohn disease, inflammatory bowel disease caused by mutation in NOD2, inflammatory bowel disease type 1, IBD1, NOD2 inflammatory bowel disease, inflammatory bowel disease (Crohn disease) 1, inflammatory bowel disease 1, paediatric ulcerative colitis, pediatric ulcerative colitis, ulcerative colitis, paediatric, ulcerative colitis, pediatric DOID:0110892, GARD:0009857, ICD9:555.9, OMIM:266600, SCTID:34000006 Endometriosis MONDO:0005133 http://purl.obolibrary.org/obo/MONDO_0005133 The growth of functional endometrial tissue in anatomic sites outside the uterine body. It most often occurs in the pelvic organs. endometriosis (disease), endometriosis DOID:289, EFO:0001065, HP:0030127, ICD10CM:N80, ICD10WHO:N80, ICD9:617, ICD9:617.8, ICD9:617.9, MEDGEN:8620, MESH:D004715, NCIT:C3014, SCTID:129103003, UMLS:C0014175, icd11.foundation:1838213761 Attempted suicide EFO:0004321 http://www.ebi.ac.uk/efo/EFO_0004321 The unsuccessful attempt to kill oneself. suicide, attempted MESH:D013406, MedDRA:10003728 Thyrotropin OMIT:0014817 http://purl.obolibrary.org/obo/OMIT_0014817 A glycoprotein hormone secreted by the anterior pituitary gland that regulates the secretion of thyroid hormones. TSH, thyroid stimulating hormone, thyrotrophin MESH:D013972, NCIT:C61235 Thyroxine amount OBA:1001010 http://purl.obolibrary.org/obo/OBA_1001010 The amount of a thyroxine when measured in anatomical entity. thyroxine amount, anatomical entity thyroxine amount - Chronic kidney disease MONDO:0005300 http://purl.obolibrary.org/obo/MONDO_0005300 Impairment of the renal function secondary to chronic kidney damage persisting for three or more months. chronic renal failure syndrome, CKD - chronic kidney disease, chronic kidney disease, chronic renal disease, kidney disease, chronic DOID:784, EFO:0003884, ICD10CM:N18, ICD10CM:N18.9, ICD10WHO:N18, ICD9:585, MEDGEN:473458, MESH:D007676, NANDO:2100008, NANDO:2100023, NCIT:C80078, SCTID:709044004, UMLS:C1561643, icd11.foundation:412389819 Glomerular filtration rate OBA:0003747 http://purl.obolibrary.org/obo/OBA_0003747 The rate of a glomerular filtration. rate of glomerular filtration - Blood urea nitrogen amount OBA:VT0005265 http://purl.obolibrary.org/obo/OBA_VT0005265 The proportion, quantity, or volume of nitrogen, in the form of urea, in whole blood, serum, or plasma; commonly used to measure renal function. BUN level, blood urea nitrogen level, blood urea nitrogen measurement CMO:0000049, CMO:0000586, CMO:0000587, EFO:0004741, EFO:0009795 Carcinoma of gallbladder and extrahepatic biliary tract MONDO:0018918 http://purl.obolibrary.org/obo/MONDO_0018918 Carcinoma of the gallbladder (GBC) is the most common and aggressive form of biliary tract cancer (BTC) usually arising in the fundus of the gallbladder, rapidly metastasizing to lymph nodes and distant sites. carcinoma of gallbladder and EBT GARD:0018850, MEDGEN:1797980, MedDRA:10007426, Orphanet:56044, UMLS:C5566557 Colon cancer HP:0003003 http://purl.obolibrary.org/obo/HP_0003003 - Colon cancer SNOMEDCT_US:363406005, UMLS:C0007102 Liver cancer MONDO:0002691 http://purl.obolibrary.org/obo/MONDO_0002691 An epithelial or non-epithelial malignant neoplasm that arises from the liver. Representative examples include hepatocellular carcinoma, intrahepatic cholangiocarcinoma, lymphoma, and sarcoma. cancer of liver, hepatic cancer, liver cancer, malignant liver neoplasm, malignant neoplasm of liver, malignant neoplasm of liver, not specified as primary or secondary, malignant neoplasm of liver, primary, malignant tumour of liver, primary cancer of liver, primary liver cancer, primary malignant liver neoplasm, primary malignant neoplasm of liver, primary tumor of the liver, primary tumour of the liver DOID:3571, GARD:0027613, ICD9:155.0, ICD9:155.2, MEDGEN:87520, NCIT:C34803, SCTID:93870000, UMLS:C0345904, icd11.foundation:1605020868 Melanoma MONDO:0005105 http://purl.obolibrary.org/obo/MONDO_0005105 A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes. Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma. Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi. Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain. malignant melanoma, melanoma (disease), melanoma, melanoma, malignant DOID:1909, EFO:0000756, HP:0002861, ICDO:8720/3, MEDGEN:9944, MESH:D008545, NANDO:2200077, NCIT:C3224, ONCOTREE:MEL, Orphanet:411533, SCTID:372244006, UMLS:C0025202 Prostate cancer MONDO:0008315 http://purl.obolibrary.org/obo/MONDO_0008315 A primary or metastatic malignant tumor involving the prostate gland. The vast majority are carcinomas. hereditary prostate cancer, prostate neoplasm, prostatic neoplasm, tumor of the prostate, cancer of prostate gland, malignant neoplasm of prostate gland, malignant neoplasm of prostate, malignant neoplasm of the prostate, malignant prostate gland neoplasm, malignant prostate neoplasm, malignant prostate tumor, malignant prostate tumour, malignant tumor of prostate, malignant tumor of the prostate, malignant tumour of prostate, malignant tumour of the prostate, prostate cancer, familial, prostate gland cancer, tumour of the prostate DOID:10283, ICD10CM:C61, ICD9:185, MEDGEN:138169, MESH:D011471, NCIT:C7378, SCTID:399068003, UMLS:C0376358 Rectal cancer MONDO:0006519 http://purl.obolibrary.org/obo/MONDO_0006519 A primary or metastatic malignant neoplasm that affects the rectum. Representative examples include carcinoma, lymphoma, and sarcoma. carcinoma of rectum, carcinoma of the rectum, cancer of rectum, malignant neoplasm of rectum, malignant neoplasm of the rectum, malignant rectal neoplasm, malignant rectal tumor, malignant rectal tumour, malignant rectum neoplasm, malignant rectum tumour, malignant tumor of rectum, malignant tumor of the rectum, malignant tumour of rectum, malignant tumour of the rectum, rectal cancer, rectum cancer DOID:1993, EFO:1000657, ICD10CM:C20, ICD9:154.1, MEDGEN:181763, NCIT:C7418, SCTID:363351006, UMLS:C0949022, icd11.foundation:1113099195 Juvenile idiopathic arthritis MONDO:0011429 http://purl.obolibrary.org/obo/MONDO_0011429 Juvenile idiopathic arthritis (JIA) is the term used to describe a group of inflammatory articular disorders of unknown cause that begin before the age of 16 and last over 6 weeks. The term juvenile idiopathic arthritis was chosen to signify the absence of any known mechanism underlying the disorder and to highlight the necessity of excluding other types of arthritis occurring in well defined diseases (in particular arthritis occurring in association with infectious, inflammatory and haematooncologic diseases). acute juvenile rheumatoid arthritis, monarticular juvenile rheumatoid arthritis, pauciarticular juvenile arthritis, pauciarticular onset juvenile chronic arthritis, rheumatoid arthritis, systemic juvenile, susceptibility to, systemic juvenile rheumatoid arthritis, Arthritis, Juvenile Rheumatoid, JIA, Juvenile idiopathic arthritis, juvenile idiopathic arthritis, juvenile rheumatoid arthritis DOID:676, EFO:0002609, GARD:0018677, ICD9:714.3, ICD9:714.31, ICD9:714.33, MEDGEN:760659, MESH:D001171, MedDRA:10059177, NANDO:1200469, NANDO:2200415, NCIT:C114357, NORD:808, OMIM:604302, Orphanet:92, SCTID:410502007, UMLS:C3495559, icd11.foundation:1322678686 Pancreatic ductal adenocarcinoma MONDO:0005184 http://purl.obolibrary.org/obo/MONDO_0005184 An infiltrating adenocarcinoma that arises from the epithelial cells of the pancreas. It affects males more often than females and the patients are usually over 50 years of age. Microscopically it is characterized by the presence of glandular (ductal) differentiation and desmoplastic stroma formation. Signs and symptoms include pain, loss of weight, and jaundice. It grows rapidly and is usually detected after it has metastasized to other anatomic sites. The prognosis is usually poor. ductal adenocarcinoma of pancreas, ductal adenocarcinoma of the pancreas, pancreas ductal adenocarcinoma, pancreas tubular adenocarcinoma, pancreatic duct adenocarcinoma, pancreatic ductal adenocarcinoma, pancreatic ductal carcinoma, pancreatic tubular adenocarcinoma DOID:3498, DOID:3587, EFO:0002517, GARD:0027716, ICD9:157.3, MEDGEN:277490, MESH:D021441, NCIT:C9120, UMLS:C1335302, icd11.foundation:581089833 Epilepsy MONDO:0005027 http://purl.obolibrary.org/obo/MONDO_0005027 A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions. epilepsy, seizure disorder DOID:1826, EFO:0000474, ICD10CM:G40, ICD10WHO:G40, ICD9:345, ICD9:345.8, ICD9:345.80, ICD9:345.9, ICD9:345.90, ICD9:345.91, MEDGEN:4506, MESH:D004827, NCIT:C3020, SCTID:84757009, UMLS:C0014544, birnlex:12718 Migraine HP:0002076 http://purl.obolibrary.org/obo/HP_0002076 Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms. Intermittent migraine headaches, Migraine headache, Migraine headaches, Migraine SNOMEDCT_US:37796009, UMLS:C0149931, UMLS:C0744641 Oral ulcer HP:0000155 http://purl.obolibrary.org/obo/HP_0000155 Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue. Oral mucosal ulceration, Mouth sore, Mouth ulcer SNOMEDCT_US:26284000, UMLS:C0149745 Albumin to Creatinine Ratio Measurement NCIT:C74761 http://purl.obolibrary.org/obo/NCIT_C74761 The determination of the ratio of albumin compared to creatinine present in a sample. The measurement may be expressed as a ratio or percentage. ALBCREAT, Albumin to Creatinine Ratio Measurement, Albumin/Creatinine, Microalbumin/Creatinine Ratio - Alcohol dependence MONDO:0007079 http://purl.obolibrary.org/obo/MONDO_0007079 Physical and psychological dependence on alcohol. alcohol dependence, alcoholism DOID:0050741, ICD10CM:F10.2, ICD9:303.90, ICD9:305.0, MEDGEN:1801, NCIT:C93040, OMIM:103780, SCTID:66590003, UMLS:C0001973, icd11.foundation:1580466198 Smoking initiation EFO:0005670 http://www.ebi.ac.uk/efo/EFO_0005670 initation of the habit of smoking, the inhaling and exhaling of tobacco smoke. - - Alcohol use disorder measurement EFO:0009458 http://www.ebi.ac.uk/efo/EFO_0009458 A quantitative measure of alcohol use disorder, e.g. using the Alcohol Use Disorders Identification Test. - PMID:30336701 Cannabis use EFO:0007585 http://www.ebi.ac.uk/efo/EFO_0007585 The consumption of the recreational drug cannabis (also known as marijuna and a number of other colloquial names). Cannabis use is illegal in some countries but not in others. Cannabis consumption, Cannabis use behaviour MedDRA:10070996 Opioid use disorder EFO:0010702 http://www.ebi.ac.uk/efo/EFO_0010702 A substance-related disorder that involves the recurring use of opioids despite negative consequences. Opioid use disorder is a diagnosis in DSM-5 that corresponds to two separate diagnoses in DSM-IV: opioid abuse and opioid dependence. - MedDRA:10079385 Abdominal pain HP:0002027 http://purl.obolibrary.org/obo/HP_0002027 Abdominal pain can be crampy, achy, dull, intermittent or sharp. The terms stomach ache and stomach cramps are nonmedical terms often used to describe pain in the mid- or upper abdominal area, even though it is not the case that the (smooth) muscles of the stomach or the abdomen have cramps. Stomach pain is another layperson term commonly used to refer to abdominal pain. Abdominal discomfort, Abdominal pain, Gastro pain, Gastrointestinal pain, Pain in stomach, Stomach pain, Upset stomach SNOMEDCT_US:21522001, UMLS:C0000737, MEDDRA:10000081 Shoulder pain HP:0030834 http://purl.obolibrary.org/obo/HP_0030834 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the shoulder. Shoulder pain SNOMEDCT_US:45326000, UMLS:C0037011 Vertigo HP:0002321 http://purl.obolibrary.org/obo/HP_0002321 An abnormal sensation of spinning while the body is actually stationary. Dizziness, Dizzy spell SNOMEDCT_US:271789005, SNOMEDCT_US:399090003, SNOMEDCT_US:399153001, SNOMEDCT_US:404640003, UMLS:C0012833, UMLS:C0042571 Post-traumatic stress disorder MONDO:0005146 http://purl.obolibrary.org/obo/MONDO_0005146 An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by intrusive recurring thoughts or images of the traumatic event; avoidance of anything associated with the event; a state of hyperarousal and diminished emotional responsiveness. These symptoms are present for at least one month and the disorder is usually long-term. combat neurosis, PTSD, post-traumatic stress disorder, traumatic neurosis DOID:2055, EFO:0001358, ICD10CM:F43.1, ICD9:309.81, MEDGEN:21345, MESH:D013313, NCIT:C3389, SCTID:47505003, UMLS:C0038436, birnlex:12679 Lacunar stroke HP:0032325 http://purl.obolibrary.org/obo/HP_0032325 A stroke related to a small infarct (2-20 mm in diameter) in the deep cerebral white matter, basal ganglia, or pons, that is presumed to result from the occlusion of a single small perforating artery supplying the subcortical areas of the brain. - - Sensory perception of bitter taste GO:0050913 http://purl.obolibrary.org/obo/GO_0050913 The series of events required to receive a bitter taste stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. bitter taste perception - Sensory perception of taste GO:0050909 http://purl.obolibrary.org/obo/GO_0050909 The series of events required for an organism to receive a gustatory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Gustation involves the direct detection of chemical composition, usually through contact with chemoreceptor cells. This is a neurological process. gustation, sense of taste, taste perception, taste Wikipedia:Taste, Reactome:R-HSA-9717189 Sensory perception of sweet taste GO:0050916 http://purl.obolibrary.org/obo/GO_0050916 The series of events required to receive a sweet taste stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. sweet taste perception - Urate measurement EFO:0004531 http://www.ebi.ac.uk/efo/EFO_0004531 A urate measurement is the quantification of some urate in body fluid urate levels NCIt:C64814 Gout MONDO:0005393 http://purl.obolibrary.org/obo/MONDO_0005393 A condition characterized by painful swelling of the joints, which is caused by deposition of urate crystals. chronic gout, gout, gouty arthropathy, tophaceous disease, tophaceous gout DOID:13189, EFO:0004274, ICD10CM:M10, ICD9:274, ICD9:274.0, ICD9:274.00, ICD9:274.9, MEDGEN:42280, MESH:D006073, NCIT:C34650, SCTID:190828008, UMLS:C0018099, icd11.foundation:395622227 Small vessel stroke EFO:1001504 http://www.ebi.ac.uk/efo/EFO_1001504 stroke caused by the blockage of blood flow in one of the small blood vessels in the brain - PMID:7678184 Intracerebral haemorrhages MONDO:0013792 http://purl.obolibrary.org/obo/MONDO_0013792 A cerebrovascular disorder characterized by bleeding into one or both cerebral hemispheres including the basal ganglia and the cerebral cortex. It is often associated with hypertension and craniocerebral trauma. stroke, hemorrhagic EFO:0005669, ICD9:431, MEDGEN:423648, MESH:D002543, SCTID:274100004, UMLS:C2937358, icd11.foundation:873092535 LDL cholesterol EFO:0004195 http://www.ebi.ac.uk/efo/EFO_0004195 Cholesterol which is contained in or bound to low density lipoproteins (LDL), including CHOLESTEROL ESTERS and free cholesterol. High-density lipoprotein cholesterol, High-density lipoproteins, LDL lipoproteins, cholesterol, LDL, lipoproteins, LDL MESH:D008077, MESH:D008078, SNOMEDCT:102739008 C-reactive protein PR:000005897 http://purl.obolibrary.org/obo/PR_000005897 Category=gene. CRP, PTX1 - Total cholesterol measurement EFO:0004574 http://www.ebi.ac.uk/efo/EFO_0004574 A total cholesterol measurement is the quantification of cholesterol in blood, total cholesterol is defined as the sum of HDL, LDL, and VLDL. cholesterol, total, total cholesterol levels SNOMEDCT:121868005 HDL cholesterol SNOMED:102737005 http://snomed.info/id/102737005 HDL cholesterol HDL - High density lipoprotein cholesterol, HDL cholesterol, HDLC - High density lipoprotein cholesterol, High density lipoprotein (HDL) cholesterol, High density lipoprotein cholesterol, High density lipoprotein cholesterol (substance) - Sleep quality OBA:2040170 http://purl.obolibrary.org/obo/OBA_2040170 The quality of a sleep. quality of sleep - Attention deficit-hyperactivity disorder MONDO:0007743 http://purl.obolibrary.org/obo/MONDO_0007743 A disorder characterized by a marked pattern of inattention and/or hyperactivity-impulsivity that is inconsistent with developmental level and clearly interferes with functioning in at least two settings (e.g. at home and at school). When present, the symptoms of hyperactivity are most often present before the age of 7 years. There are three recognized presentations or subtypes from most to least common: combined type, inattentive/distractible type, hyperactive/impulsive type. ADHD, attention deficit hyperactivity disorder, attention deficit-hyperactivity disorder, attention deficit/hyperactivity disorder EFO:0003888, MEDGEN:220387, NCIT:C97160, UMLS:C1263846 Temporomandibular joint disorder MONDO:0005473 http://purl.obolibrary.org/obo/MONDO_0005473 Any condition affecting the anatomic and functional characteristics of the temporomandibular joint. TMD EFO:0005279, ICD9:524.60, ICD9:524.69, MEDGEN:21092, MESH:D013705, NCIT:C63709, SCTID:41888000, UMLS:C0039494 Diastolic blood pressure EFO:0006336 http://www.ebi.ac.uk/efo/EFO_0006336 The blood pressure after the contraction of the heart while the chambers of the heart refill with blood. DIABP, diastolic pressure MedDRA:10012751, NCIt:C25299, SNOMEDCT:271650006 Respiratory tract infectious disorder MONDO:0024355 http://purl.obolibrary.org/obo/MONDO_0024355 Invasion of the host RESPIRATORY SYSTEM by microorganisms, usually leading to pathological processes or diseases. infection, respiratory tract, infections, respiratory tract, infections, respiratory, infections, upper respiratory tract, infections, upper respiratory, respiratory infection, upper, respiratory infections, respiratory tract infection, upper respiratory infections, upper respiratory tract infections ICD9:519.8, MESH:D012141, SCTID:275498002 Acute tubulointerstitial nephritis HP:0004729 http://purl.obolibrary.org/obo/HP_0004729 Acute inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. - UMLS:C1843274 Bacterial infectious disease MONDO:0005113 http://purl.obolibrary.org/obo/MONDO_0005113 An acute infectious disorder that is caused by gram positive or gram negative bacteria; representative examples include pneumococcal, streptococcal, salmonella, and meningeal infections. Bacteria disease or disorder, Bacteria infectious disease, Bacteria caused disease or disorder, bacterial disease, bacterial disorder, bacterial infection, bacterial infectious disease, infection, bacterial, infections, bacterial DOID:104, EFO:0000771, ICD9:040.89, ICD9:041.89, ICD9:041.9, MEDGEN:14012, MESH:D001424, NCIT:C2890, SCTID:87628006, UMLS:C0004623 Cystitis MONDO:0006032 http://purl.obolibrary.org/obo/MONDO_0006032 Inflammation of the urinary bladder. bladder infection, inflammation of urinary bladder, urinary bladder inflammation DOID:1679, EFO:1000025, ICD10CM:N30, ICD10WHO:N30, ICD9:595, ICD9:595.89, ICD9:595.9, MEDGEN:8227, MESH:D003556, NCIT:C26738, SCTID:38822007, UMLS:C0010692, icd11.foundation:1181120673 Intestinal infectious disease MONDO:0000916 http://purl.obolibrary.org/obo/MONDO_0000916 An infectious disease involving a pathogenic inflammatory response in the intestinal mucosa. - DOID:100, ICD10CM:A00-A09, ICD9:001-009, ICD9:008.8, MEDGEN:511728, SCTID:266071000, UMLS:C0178238 Sepsis HP:0100806 http://purl.obolibrary.org/obo/HP_0100806 For clinical operationalization, organ dysfunction can be represented by an increase in the Sequential Sepsis-related Organ Failure Assessment (SOFA) score of 2 points or more. Infection in blood stream UMLS:C0036690 Skin infection MONDO:0021201 http://purl.obolibrary.org/obo/MONDO_0021201 An inflammatory process affecting the skin, caused by bacteria, viruses, parasites, or fungi. Examples of bacterial infection include carbuncles, furuncles, impetigo, erysipelas, and abscesses. Examples of viral infection include shingles, warts, molluscum contagiosum, and pityriasis rosea. Examples of parasitic infection include scabies and lice. Examples of fungal infection include athlete's foot, yeast infection, and ringworm. skin infection MEDGEN:52365, NCIT:C35025, SCTID:19824006, UMLS:C0037278 Viral hepatitis MONDO:0006011 http://purl.obolibrary.org/obo/MONDO_0006011 Editor note: consider adding term for viral Hepatitis viral, Viruses hepatitis, viral hepatitis with hepatic coma, Viruses caused hepatitis, unspecified viral hepatitis with hepatic coma, viral Hepatitis, viral human hepatitis DOID:1884, EFO:0004196, ICD10CM:B15-B19, ICD10WHO:B15-B19, ICD9:573.1, MEDGEN:22652, MESH:D006525, NCIT:C35124, SCTID:3738000, UMLS:C0042721, icd11.foundation:985510409 Frailty measurement EFO:0009885 http://www.ebi.ac.uk/efo/EFO_0009885 Quantification of some aspect of frailty. Frailty is usually described as clinical state of heightened vulnerability to poor resolution of homeostasis after a stressor event, which thereby increases the risk of adverse outcomes, including falls, delirium, disability and mortality. - PMID:30475886 Paroxysmal supraventricular tachycardia HP:0004763 http://purl.obolibrary.org/obo/HP_0004763 PSVT is a term used to denote intermittent supraventricular tachycardia other than atrial fibrillation, atrial flutter and multifocal atrial tachycardia (AT). The major causes are atrioventricular reentrant tachycardia (AVNRT), atrioventricular reentrant tachycardia (AVRT), and sinoatrial node reentrant tachycardia (SNRT). Episodic supraventricular tachycardia, Episodic rapid heart beat, PSVT SNOMEDCT_US:67198005, UMLS:C0030590, UMLS:C4280507 Hypertensive heart disease MONDO:0001302 http://purl.obolibrary.org/obo/MONDO_0001302 Abnormal enlargement of the heart resulting from long-standing hypertension. hypertensive heart disease DOID:11516, ICD10CM:I11, ICD10WHO:I11, ICD9:402, ICD9:402.9, MEDGEN:508889, NCIT:C4907, SCTID:64715009, UMLS:C0152105, icd11.foundation:1210166201 Atherosclerosis MONDO:0005311 http://purl.obolibrary.org/obo/MONDO_0005311 A disease characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. atherosclerosis of artery ICD9:440.8, DOID:1936, EFO:0003914, ICD10CM:I70, ICD10WHO:I70, ICD9:440, MEDGEN:13948, MESH:D050197, NCIT:C35768, SCTID:441574008, UMLS:C0004153, icd11.foundation:109367356 Cardiovascular measurement EFO:0004298 http://www.ebi.ac.uk/efo/EFO_0004298 A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used in the process of disease diagnosis in human patients. Diagnostic Techniques, Cardiovascular, cardiovascular diagnostic technique MESH:D003935, SNOMEDCT:113021009 Intracerebral hemorrhage MONDO:0013792 http://purl.obolibrary.org/obo/MONDO_0013792 A cerebrovascular disorder characterized by bleeding into one or both cerebral hemispheres including the basal ganglia and the cerebral cortex. It is often associated with hypertension and craniocerebral trauma. stroke, hemorrhagic EFO:0005669, ICD9:431, MEDGEN:423648, MESH:D002543, SCTID:274100004, UMLS:C2937358, icd11.foundation:873092535 Perivascular space measurement EFO:0803382 http://www.ebi.ac.uk/efo/EFO_0803382 Quantification of the space between a blood vessel and the brain's pia mater. It may be measured by magnetic resonance imaging as an imaging marker of cerebral small vessel disease. PVS, Virchow-Robin space - Peripheral vascular disease MONDO:0005294 http://purl.obolibrary.org/obo/MONDO_0005294 Any disorder affecting blood flow through the veins or arteries outside of the heart. disease, peripheral vascular, vascular disease, peripheral, peripheral vascular disorder DOID:341, EFO:0003875, ICD9:443.81, MEDGEN:38790, MESH:D016491, NCIT:C35136, UMLS:C0085096, icd11.foundation:426429380 Anxiety disorder MONDO:0005618 http://purl.obolibrary.org/obo/MONDO_0005618 A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety. anxiety, anxiety disorder DOID:2030, EFO:0006788, ICD9:300.09, MEDGEN:361, MESH:D001008, NCIT:C2878, SCTID:197480006, UMLS:C0003469 Obsessive-compulsive disorder MONDO:0008114 http://purl.obolibrary.org/obo/MONDO_0008114 A disorder characterized by the presence of persistent and recurrent irrational thoughts (obsessions), resulting in marked anxiety and repetitive excessive behaviors (compulsions) as a way to try to decrease that anxiety. obsessive-compulsive disorder, susceptibility to, OCD, obsessive compulsive disorder, obsessive-compulsive disorder DOID:10933, EFO:0004242, ICD10CM:F42, ICD10WHO:F42, ICD9:300.3, MEDGEN:14445, MESH:D009771, NCIT:C88411, OMIM:164230, SCTID:191736004, UMLS:C0028768, icd11.foundation:1582741816 Obesity disorder MONDO:0011122 http://purl.obolibrary.org/obo/MONDO_0011122 Obesity is a complex disease that may involve multiple environmental and genetic causes. See the subclass monogenic disease for genetic subtypes obesity disease, obesity DOID:9970, EFO:0001073, HP:0001513, ICD9:278.0, ICD9:278.00, MEDGEN:18127, NCIT:C3283, Orphanet:521399, SCTID:414916001, UMLS:C0028754 Low back pain HP:0003419 http://purl.obolibrary.org/obo/HP_0003419 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back. Lower back pain, Lumbago SNOMEDCT_US:279039007, UMLS:C0024031 Asthma MONDO:0004979 http://purl.obolibrary.org/obo/MONDO_0004979 A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors resulting in recurring periods of wheezing (a whistling sound while breathing), chest tightness, shortness of breath, mucus production and coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, exercise, stress, reflux disease, medications, foods and emotional anxiety. chronic obstructive asthma with acute exacerbation, chronic obstructive asthma with status asthmaticus, chronic obstructive asthma, exercise induced asthma, exercise-induced asthma DOID:2841, HP:0002099, ICD10CM:J45, ICD10WHO:J45, ICD9:493, ICD9:493.81, ICD9:493.9, MEDGEN:2109, MESH:D001249, NCIT:C28397, SCTID:31387002, UMLS:C0004096, icd11.foundation:1656445230 Atopic asthma EFO:0010638 http://www.ebi.ac.uk/efo/EFO_0010638 An asthma that is characterized by symptoms that are triggered by an allergic reaction caused by inhaled allergens such as dust mite allergen, pet dander, pollen and mold. allergic asthma MedDRA:10003638 Childhood onset asthma MONDO:0005405 http://purl.obolibrary.org/obo/MONDO_0005405 Asthma that starts in childhood. asthma of childhood, childhood asthma, paediatric asthma, pediatric asthma DOID:0080815, MEDGEN:538550, SCTID:233678006, UMLS:C0264408 Chronic obstructive pulmonary disease MONDO:0005002 http://purl.obolibrary.org/obo/MONDO_0005002 A chronic and progressive lung disorder characterized by the loss of elasticity of the bronchial tree and the air sacs, destruction of the air sacs wall, thickening of the bronchial wall, and mucous accumulation in the bronchial tree. The pathologic changes result in the disruption of the air flow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough, and chest tightness. The two main types of chronic obstructive pulmonary disease are chronic obstructive bronchitis and emphysema. COPD, chronic obstructive pulmonary disease, chronic obstructive pulmonary disease, (COPD), cold (chronic obstructive lung disease), disease (COPD), chronic obstructive, obstructive pulmonary disease (COPD), chronic, pulmonary disease (COPD), chronic obstructive, COLD, COPD, chronic obstructive airways disease, chronic obstructive lung disease, chronic obstructive pulmonary disease (COPD), cold, obstructive lung disease, chronic DOID:3083, EFO:0000341, ICD9:490-496, ICD9:496, MEDGEN:9818, MESH:D029424, NCIT:C3199, OMIM:606963, SCTID:13645005, UMLS:C0024117, icd11.foundation:133207228 Intervertebral disk degenerative disorder MONDO:0011385 http://purl.obolibrary.org/obo/MONDO_0011385 Any disease of a degenerative nature that affects the intervertebral disk. cervical disk degenerative disease, degenerative disk disease, intervertebral disk degeneration, intervertebral disk disease, lumbar disk degeneration, vertebral disk disease, IDD, cervical disc degenerative disease, degenerative disorder of intervertebral disc, degenerative disorder of intervertebral disk, intervertebral Disc Degeneration, intervertebral Disc degenerative disease, intervertebral Disc degenerative disorder, intervertebral disc degeneration, intervertebral disc disease, intervertebral disk degenerative disorder, lumbar disc degeneration, vertebral Disc degenerative disease, vertebral Disc degenerative disorder DOID:90, EFO:0004994, ICD9:722.6, MEDGEN:102357, MESH:D055959, NCIT:C26983, OMIM:603932, SCTID:77547008, UMLS:C0158266 Metabolic dysfunction-associated steatotic liver disease MONDO:0013209 http://purl.obolibrary.org/obo/MONDO_0013209 Metabolic dysfunction-associated steatotic liver disease (MASLD, formerly known as nonalcoholic fatty liver disease or NAFLD) is a type of liver disease that is not caused by alcohol. It typically does not cause symptoms in the early stages, but it can cause health problems due to fat accumulation, inflammation, and scarring in the liver. fatty liver disease, nonalcoholic, susceptibility to, 1, MASLD, NAFLD - nonalcoholic fatty liver disease, NAFLD, NAFLD1, fatty liver disease, nonalcoholic, non-alcoholic fatty liver disease, non-alcoholic fatty liver, nonalcoholic fatty liver disease DOID:0080208, DOID:0080546, EFO:0003095, ICD9:571.8, MEDGEN:96033, MESH:D065626, MedDRA:10029530, NCIT:C84444, Orphanet:33271, SCTID:197315008, UMLS:C0400966, icd11.foundation:1912806631 Membranous nephropathy HP:0012578 http://purl.obolibrary.org/obo/HP_0012578 A type of glomerulonephropathy characterized by thickening of the basement membrane and deposition of immune complexes in the subepithelial space. Membranous glomerulonephritis SNOMEDCT_US:77182004, UMLS:C0017665 Potassium measurement EFO:0009283 http://www.ebi.ac.uk/efo/EFO_0009283 A quantitative measurement of the amount of potassium present in a sample. K measurement, potassium levels PMID:29403010 Magnesium measurement EFO:0004845 http://www.ebi.ac.uk/efo/EFO_0004845 Is a quantification of magnesium in serum. - NCIt:C64840, SNOMEDCT:38151008 Alcohol drinking EFO:0004329 http://www.ebi.ac.uk/efo/EFO_0004329 Behaviors associated with the ingesting of alcoholic beverages, including social drinking. alcohol consumption MESH:D000428, NCIt:C16273 Sleep duration trait OBA:2040171 http://purl.obolibrary.org/obo/OBA_2040171 The duration of a sleep. duration of sleep - Early morning waking SNOMED:401236004 http://snomed.info/id/401236004 Early morning waking Early morning waking, Early morning waking (finding), Early waking, Wakes early - Chronotype measurement EFO:0008328 http://www.ebi.ac.uk/efo/EFO_0008328 quantification of some aspect of chronotype such as ease of getting up in the morning - - Nap during day, self-reported EFO:0009818 http://www.ebi.ac.uk/efo/EFO_0009818 Having a nap during the day, as reported by an individual. - NCIt:C118602 Snoring HP:0025267 http://purl.obolibrary.org/obo/HP_0025267 Deep, noisy breathing during sleep, accompanied by hoarse or harsh sounds, is caused by the vibration of respiratory structures, especially the soft palate. This vibration results in sound due to obstructed air movement during breathing while sleeping. Snore, Snores, Snoring symptoms - Narcolepsy MONDO:0021107 http://purl.obolibrary.org/obo/MONDO_0021107 A sleep disorder characterized by a tendency for excessive sleepiness during the day which occurs even after adequate sleep in the nighttime. The persons who suffer from this condition experience fatigue and may fall asleep at inappropriate times during the day. narcolepsy, without cataplexy, narcolepsy with or without cataplexy, paroxysmal sleep DOID:8986, GARD:0022460, ICD10CM:G47.41, MEDGEN:45001, MESH:D009290, NCIT:C84489, Orphanet:619284, SCTID:60380001, UMLS:C0027404, icd11.foundation:1201727099 Number of treatments or medications taken, self-reported EFO:0009803 http://www.ebi.ac.uk/efo/EFO_0009803 Number of treatments undergone by an individual (including medications taken), as reported by the individual. - - Diet measurement EFO:0008111 http://www.ebi.ac.uk/efo/EFO_0008111 quantification of some aspect of diet, including diet patterns, balance of nutrient consumption and glycemic load - - Alcohol abuse MONDO:0002046 http://purl.obolibrary.org/obo/MONDO_0002046 The use of alcoholic beverages to excess, either on individual occasions (binge drinking) or as a regular practice. abuse, alcohol, addiction, alcohol, alcohol abuse, alcohol addiction, alcohol dependence, alcoholic intoxication, chronic, alcoholism, chronic alcoholic intoxication, dependence, alcohol, intoxication, chronic alcoholic DOID:1574, ICD10CM:F10.1, ICD9:305.0, ICD9:305.00, MEDGEN:39339, MESH:D000437, SCTID:15167005, UMLS:C0085762 Comparative body size at age 10, self-reported EFO:0009819 http://www.ebi.ac.uk/efo/EFO_0009819 Description of an individual's body size at age 10 compared to average, as reported by the individual. - - Handedness EFO:0009902 http://www.ebi.ac.uk/efo/EFO_0009902 A better, faster, or more precise performance or individual preference for use of a hand, known as the dominant hand; the less capable or less preferred hand is called the non-dominant hand. Dominance typically applies to all tasks, but in rare cases may be task-specific (known as cross-handedness or mixed-dominance) Ambidexterity is the ability to do any task equally well with either hand. Ambidexterity, Mirror Writing, Mirror Writings, Writing, Mirror, Writings, Mirror - Color of skin SNOMED:364533002 http://snomed.info/id/364533002 Colour of skin Color of skin, Color of skin (observable entity), Colour of skin - Facial wrinkling HP:0009762 http://purl.obolibrary.org/obo/HP_0009762 Excessive wrinkling of the skin of the face. Facial wrinkling SNOMEDCT_US:248194004, UMLS:C0262478 Feeling miserable measurement EFO:0009598 http://www.ebi.ac.uk/efo/EFO_0009598 Quantification of whether an individual feels or felt miserable. - PMID:29500382 Sensitivity NCIT:C25201 http://purl.obolibrary.org/obo/NCIT_C25201 The ability to respond to physical stimuli or to register small physical amounts or differences. Sensitive, Sensitivity - Feeling fed-up measurement EFO:0009588 http://www.ebi.ac.uk/efo/EFO_0009588 Quantification of whether an individual feels or felt fed-up. - PMID:29500382 Feeling nervous MFOEM:000124 http://purl.obolibrary.org/obo/MFOEM_000124 A subjective affective feeling of being not at ease or agitated. anxiety, nervousness, nervous feeling - Sitting height measurement EFO:0011011 http://www.ebi.ac.uk/efo/EFO_0011011 Quantification of some aspect of height, when assuming a sitting position. - PMID:33623009 Reaction time measurement EFO:0008393 http://www.ebi.ac.uk/efo/EFO_0008393 In psychology, the quantification of the interval of time between the presentation of a stimulus to a subject and the beginning of the subject's response to that stimulus. Several categories of reaction time, such as simple reaction time and choice reaction time, have been established and studied in experimental psychology to assess general alertness and motor speed. - PMID:28746715 Risk-taking behaviour EFO:0008579 http://www.ebi.ac.uk/efo/EFO_0008579 The tendency to take risks. Risk-taking behaviour is a characteristic of several psychiatric disorders such as ADHD and bipolar disorder, as well as problem behaviours such as smoking and drug abuse. - - Sleeping behavior quality OBA:1000905 http://purl.obolibrary.org/obo/OBA_1000905 The quality of a sleeping behavior. quality of sleeping behavior - Body weight EFO:0004338 http://www.ebi.ac.uk/efo/EFO_0004338 The mass or quantity of heaviness of an individual. It is expressed by units of pounds or kilograms. weight MESH:D001835, NCIt:C81328, SNOMEDCT:27113001 Allergic rhinitis MONDO:0011786 http://purl.obolibrary.org/obo/MONDO_0011786 Inflammation of the nasal mucous membranes caused by an IgE-mediated response to external allergens. The inflammation may also involve the mucous membranes of the sinuses, eyes, middle ear, and pharynx. Symptoms include sneezing, nasal congestion, rhinorrhea, and itching. It may lead to fatigue, drowsiness, and malaise thus causing impairment of the quality of life. Perenial allergic rhinitis, atopic rhinitis, non-seasonal allergic rhinitis, perennial allergic rhinitis, seasonal allergic rhinitis, allergic form of rhinitis, allergic rhinitis DOID:4481, EFO:0005854, HP:0003193, ICD9:477, ICD9:477.8, ICD9:477.9, MEDGEN:382012, NCIT:C79532, SCTID:61582004, UMLS:C2607914, icd11.foundation:1711769234 Sarcoidosis MONDO:0019338 http://purl.obolibrary.org/obo/MONDO_0019338 Editor note: ORDO makes this a type of cardiomyopathy but this would render the subclass cardiac sarcoidosis equivalent; same with neurogenic sarcoidosis. TODO - check type of hypersensitivity disease. This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'connective tissue disorder' (MONDO:0018153) ontology branch (https://orcid.org/0000-0002-1780-5230). Boeck's sarcoidosis, Darier-Roussy sarcoid, besnier-Boeck-Schaumann syndrome, Besnier-Boeck-Schaumann disease, Boeck sarcoid, Boeck's sarcoid, sarcoid, sarcoidosis DOID:11335, GARD:0007607, ICD10CM:D86, ICD10WHO:D86, MEDGEN:48554, MESH:D012507, MedDRA:10039486, NANDO:1200415, NCIT:C34995, NORD:1690, Orphanet:797, SCTID:31541009, UMLS:C0036202, icd11.foundation:330792642 Noise induced hearing loss MONDO:0013098 http://purl.obolibrary.org/obo/MONDO_0013098 A condition in which a person loses the ability to hear due to exposure to high intensity sound. hearing loss, noise-induced, susceptibility to, NIHL, noise-induced hearing loss EFO:1001254, ICD9:388.12, MEDGEN:5455, MESH:D006317, NCIT:C34664, SCTID:73415002, UMLS:C0018781 Body fat mass OBA:VT0010482 http://purl.obolibrary.org/obo/OBA_VT0010482 The amount of matter in the body of an organism that is fat or adipose tissue. fat body mass EFO:0004341, EFO:0005409, EFO:0007800, EFO:0009890, EFO:0803317, EFO:0803318, EFO:0803319 Lean body mass EFO:0004403 http://www.ebi.ac.uk/efo/EFO_0004403 Lean body mass (LBM) is the weight of bones, muscles, organs, and other non-fat tissues. It is calculated as total body mass minus fat mass. LBM, fat-free mass, lean mass MESH:D049629, NCIt:C18111 Whole body water mass EFO:0009805 http://www.ebi.ac.uk/efo/EFO_0009805 The weight of an individual's body water, i.e. the water content of a body that is contained in the tissues, the blood, the bones and elsewhere. The percentages of body water contained in various fluid compartments add up to total body water (TBW). - Wikipedia:Body_water Base metabolic rate measurement EFO:0007777 http://www.ebi.ac.uk/efo/EFO_0007777 quantification of an individual's base metabolic rate, the minimum amount of energy required to sustain life while at complete rest, including the body being in a post-absorptive state (ie the digestive system is inactive). BMR differs from RMR because BMR measurements must meet total physiological equilibrium whereas RMR conditions of measurement can be altered and defined by the contextual limitations. BMR measurement, basal metabolic rate measurement - Voice disorders MONDO:0043862 http://purl.obolibrary.org/obo/MONDO_0043862 A pathologic process in the larynx that affects the production of speech. Causes include vocal cord paresis, vocal cord nodule, vocal cord polyp, and laryngitis. neurologic voice disorder, voice disorder EFO:0009692, MEDGEN:12120, MESH:D014832, NCIT:C3441, SCTID:71941009, UMLS:C0042940 Number of children fathered measurement EFO:0009814 http://www.ebi.ac.uk/efo/EFO_0009814 A measurement of the number of children fathered by a male individual. - - Diabetes mellitus MONDO:0005015 http://purl.obolibrary.org/obo/MONDO_0005015 A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization. DM, diabetes mellitus (disease), diabetes mellitus, diabetes DOID:9351, EFO:0000400, HP:0000819, ICD10CM:E08-E13, ICD10WHO:E10-E14, ICD9:250, MEDGEN:8350, MESH:D003920, NANDO:2100157, NANDO:2100158, NCIT:C2985, SCTID:73211009, UMLS:C0011849, icd11.foundation:465177735 Age at menarch assessment MAXO:0001597 http://purl.obolibrary.org/obo/MAXO_0001597 Obtaining information about the onset of menarch, the beginning of the first menstrual cycle. determination of start of menstruation, determination of start of period - Leukocyte disorder MONDO:0004805 http://purl.obolibrary.org/obo/MONDO_0004805 A disease involving leukocytes. disease or disorder of leukocyte, white blood cell disorder, disease of leukocyte, disorder of leukocyte, disorder, leukocyte, disorders, leukocyte, leukocyte disease or disorder, leukocyte disease, leukocyte disorder DOID:9500, ICD9:288, ICD9:288.9, MEDGEN:7325, MESH:D007960, SCTID:54097007, UMLS:C0023510 Erythrocyte count EFO:0004305 http://www.ebi.ac.uk/efo/EFO_0004305 The number of red blood cells?per unit volume in a sample of venous blood. RBC, erythrocyte number, red blood cell count MESH:D004906, NCIt:C51946, SNOMEDCT:14089001 Mean corpuscular hemoglobin concentration EFO:0004528 http://www.ebi.ac.uk/efo/EFO_0004528 The mean corpuscular hemoglobin concentration is a measure of the concentration of hemoglobin in a given volume of packed red blood cell CHCM, Corpuscular HGB Concentration Mean, Corpuscular Hemoglobin Concentration Mean, Erythrocyte Corpuscular Hemoglobin Concentration Mean, MCHC, mean corpuscular haemoglobin concentration NCIt:C139067 Hematocrit EFO:0004348 http://www.ebi.ac.uk/efo/EFO_0004348 The volume of packed RED BLOOD CELLS in a blood specimen. The volume is measured by centrifugation in a tube with graduated markings, or with automated blood cell counters. It is an indicator of erythrocyte status in disease. For example, ANEMIA shows a low value; POLYCYTHEMIA, a high value. Ht, packed erythrocyte volume, packed red-cell volume MESH:D006400, MedDRA:10019422 Mean corpuscular haemoglobin concentration EFO:0004528 http://www.ebi.ac.uk/efo/EFO_0004528 The mean corpuscular hemoglobin concentration is a measure of the concentration of hemoglobin in a given volume of packed red blood cell CHCM, Corpuscular HGB Concentration Mean, Corpuscular Hemoglobin Concentration Mean, Erythrocyte Corpuscular Hemoglobin Concentration Mean, MCHC, mean corpuscular haemoglobin concentration NCIt:C139067 Red cell distribution width EFO:0009188 http://www.ebi.ac.uk/efo/EFO_0009188 Red blood cell distribution width (RDW or RDW-CV or RCDW and RDW-SD) is a measure of the range of variation of red blood cell (RBC) volume that is reported as part of a standard complete blood count. Usually red blood cells are a standard size of about 6-8 ¦̀m in diameter. Certain disorders, however, cause a significant variation in cell size. Higher RDW values indicate greater variation in size. Normal reference range of RDW-CV in human red blood cells is 11.5-14.5%.[1] If anemia is observed, RDW test results are often used together with mean corpuscular volume (MCV) results to determine the possible causes of the anemia. It is mainly used to differentiate an anemia of mixed causes from an anemia of a single cause. Erythrocyte Distribution Width Measurement, RCDW, RDW, RDW-CV, RDW-SD, Red blood cell erythrocyte distribution width, Red cell distribution width (RDW) blood test MedDRA:10051168, NCIt:C64800, Wikipedia:Red_blood_cell_distribution_width Abnormal platelet count HP:0011873 http://purl.obolibrary.org/obo/HP_0011873 Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood. - SNOMEDCT_US:165558001, UMLS:C0580317 Mean Platelet Volume HP:0005537 http://purl.obolibrary.org/obo/HP_0005537 Mean platelet volume (MPV) is a measure of the average size of platelets, with a typical reference range of 7.5 to 11.5 femtoliters (fL). Small platelet size, Small platelets size, Small platelets UMLS:C1096368, UMLS:C1833182 Platelet component distribution width EFO:0007984 http://www.ebi.ac.uk/efo/EFO_0007984 Measure of variation in platelet size. PCDW, Platelet Component Distribution Width Measurement, Platelet distribution width CMO:0001350, NCIt:C111294 Abnormal lymphocyte count HP:0040088 http://purl.obolibrary.org/obo/HP_0040088 Any abnormality in the total number of lymphocytes in the blood. Abnormal lymphocyte count, Abnormal lymphocyte counts, Abnormal number of lymphocytes, Abnormal numbers of lymphocytes, Abnormality of lymphocyte number SNOMEDCT_US:165534000, UMLS:C0580550 Abnormal monocyte count HP:0012310 http://purl.obolibrary.org/obo/HP_0012310 Mmonocytes are myeloid mononuclear recirculating leukocytes that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells. Abnormal monocyte number SNOMEDCT_US:165540007, SNOMEDCT_US:165541006, UMLS:C0580319 Neutrophill count SNOMED:30630007 http://snomed.info/id/30630007 Neutrophil count Neutrophil count, Neutrophil count (procedure) - Eosinophil count EFO:0004842 http://www.ebi.ac.uk/efo/EFO_0004842 Is a quantification of eosinphils in blood. blood eosinophil count CMO:0000033, MedDRA:10014941, NCIt:C64550, SNOMEDCT:71960002 Basophil count EFO:0005090 http://www.ebi.ac.uk/efo/EFO_0005090 The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter. blood basophil count CMO:0000034, CMO:0000111, MedDRA:10049695, SNOMEDCT:42351005 Nucleated Red Blood Cell Count NCIT:C74705 http://purl.obolibrary.org/obo/NCIT_C74705 The determination of the number of nucleated red blood cells present in a sample. Nucleated Erythrocytes, Nucleated Red Blood Cell Count, Nucleated Red Blood Cells, RBCNUC - Lymphocyte count EFO:0004587 http://www.ebi.ac.uk/efo/EFO_0004587 A quantification of lymphocytes in blood. lymphocyte counts MESH:D018655, MedDRA:10025251, NCIt:C51949, SNOMEDCT:74765001 Monocyte count EFO:0005091 http://www.ebi.ac.uk/efo/EFO_0005091 quantification of monocytes in the blood - MedDRA:10027876, NCIt:C64823, SNOMEDCT:67776007 Neutrophil count EFO:0004833 http://www.ebi.ac.uk/efo/EFO_0004833 The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter. blood neutrophil count CMO:0000030, MedDRA:10029363, NCIt:C51950, SNOMEDCT:30630007 Reticulocyte amount OBA:0002272 http://purl.obolibrary.org/obo/OBA_0002272 The amount of a reticulocyte. amount of reticulocyte - Reticulocyte count EFO:0007986 http://www.ebi.ac.uk/efo/EFO_0007986 The number of reticulocytes per unit volume of blood. Reticulocytes are immature red blood cells and typically compose aoubt 1% of red blood cells in the human body. - MedDRA:10038787 Mean reticulocyte volume EFO:0010701 http://www.ebi.ac.uk/efo/EFO_0010701 Mean volume of reticulocyte cells - - Urine microalbumin detected SNOMED:167582007 http://snomed.info/id/167582007 Urine microalbumin positive Urine microalbumin detected, Urine microalbumin detected (finding), Urine microalbumin positive - Urinary metabolite measurement EFO:0005116 http://www.ebi.ac.uk/efo/EFO_0005116 quantification of some metabolite in urine - - Abnormal urine sodium concentration HP:0012603 http://purl.obolibrary.org/obo/HP_0012603 An abnormal concentration of sodium in the urine. Abnormal urine Na concentration, Abnormal urine Na+ levels UMLS:C4022825 Serum albumin measurement EFO:0004663 http://www.ebi.ac.uk/efo/EFO_0004663 A processed genotype data file is a data file which stores information about genotypeswhich has been processed by some form of analysis method, for example normalization or noise reduction. - - Alkaline phosphatase measurement EFO:0004533 http://www.ebi.ac.uk/efo/EFO_0004533 Alkaline phosphatase measurement is a quantification of alkaline phosphatase in blood. AP is a marker for bone and liver disease. AP NCIt:C64432, SNOMEDCT:88810008 Serum alanine aminotransferase amount OBA:2050062 http://purl.obolibrary.org/obo/OBA_2050062 The amount of a alanine aminotransferase when measured in blood serum. blood serum alanine aminotransferase amount - Bilirubin measurement EFO:0004570 http://www.ebi.ac.uk/efo/EFO_0004570 A bilirubin measurement is a quantification of bilirubin typically measured in serum. bilirubin levels SNOMEDCT:302787001 Urea measurement EFO:0011005 http://www.ebi.ac.uk/efo/EFO_0011005 Quantification of urea in a sample. - PMID:33283231 Serum creatinine amount OBA:2050096 http://purl.obolibrary.org/obo/OBA_2050096 The amount of a creatinine when measured in blood serum. blood serum creatinine amount - C-reactive protein measurement EFO:0004458 http://www.ebi.ac.uk/efo/EFO_0004458 C-reactive protein (CRP) measurement is a measurement of the level of C-reactive protein in the blood. Levels are known to rise in response to inflammation, CRP is therefore used as a clinical measure of inflammation. The measurement is used in the process of clinical diagnosis as high levels of CRP are associated with cardiovascular disease, diabetes and hypertension and in some cancers. C-reactive protein level NCIt:C64548, SNOMEDCT:55235003, uniprot:P02741 Cystatin c measurement EFO:0004617 http://www.ebi.ac.uk/efo/EFO_0004617 is a quantification of serum cystatin C C (formerly gamma trace, post-gamma-globulin or neuroendocrine basic polypeptide),[1] a protein encoded by the CST3 gene, is mainly used as a biomarker of kidney function and kidney disease. - NCIt:C92290, uniprot:P01034 Protein-glutamine gamma-glutamyltransferase activity GO:0003810 http://purl.obolibrary.org/obo/GO_0003810 Catalysis of the reaction: L-glutaminyl-[protein] + L-lysyl-[protein] = [protein]-L-lysyl-N(6)-5-L-glutamyl-[protein] + NH4+. This reaction is the formation of the N6-(L-isoglutamyl)-L-lysine isopeptide, resulting in cross-linking polypeptide chains; the gamma-carboxamide groups of peptidyl-glutamine residues act as acyl donors, and the 6-amino-groups of peptidyl-lysine residues act as acceptors, to give intra- and intermolecular N6-(5-glutamyl)lysine cross-links. TGase activity, fibrinoligase activity, transglutaminase activity, R-glutaminyl-peptide:amine gamma-glutamyl transferase activity, factor XIIIa, fibrin stabilizing factor, glutaminylpeptide gamma-glutamyltransferase activity, polyamine transglutaminase activity, protein-glutamine:amine gamma-glutamyltransferase, tissue transglutaminase EC:2.3.2.13, MetaCyc:2.3.2.13-RXN, RHEA:54816, Reactome:R-HSA-140851, Reactome:R-HSA-6810894, Reactome:R-HSA-9921091 Glucose measurement EFO:0004468 http://www.ebi.ac.uk/efo/EFO_0004468 Is any quantification of glucose. glucose level ICD10:R73, NCIt:C105585, SNOMEDCT:36048009 HbA1c measurement EFO:0004541 http://www.ebi.ac.uk/efo/EFO_0004541 A quantification of glycated A1c hemoglobin in blood used as an index for blood glucose level over several months. A1C measurement, A1c measurement, Glycosylated Hemoglobin Measurement, Glycosylated Hemoglobin, HBA1C, HbA1c levels, Hemoglobin A1C, glycated hemoglobin levels, glycosylated Haemoglobin A level, glycosylated Hemoglobin A level NCIt:C64849 High density lipoprotein cholesterol measurement EFO:0004612 http://www.ebi.ac.uk/efo/EFO_0004612 The measurement of HDL cholesterol in blood used as a risk indicator for heart disease. HDL measurement MedDRA:10020060, NCIt:C105587, SNOMEDCT:28036006 Low density lipoprotein cholesterol measurement EFO:0004611 http://www.ebi.ac.uk/efo/EFO_0004611 The measurement of LDL cholesterol in blood used as a risk indicator for heart disease. LDL measurement NCIt:C105588, SNOMEDCT:113079009 Lipoprotein A measurement EFO:0006925 http://www.ebi.ac.uk/efo/EFO_0006925 quantification of some lipoprotein A in a sample Lp(a) measurement - Estradiol measurement EFO:0004697 http://www.ebi.ac.uk/efo/EFO_0004697 Is a quantification of circulating estradiol a circulating steriod sex hormone. estradiol levels, oestrogen level, oestrogen levels NCIt:C74782, SNOMEDCT:37538009 Phosphate measurement EFO:0010968 http://www.ebi.ac.uk/efo/EFO_0010968 Quantification of phosphate levels in a sample. - PMID:33462484 Sex hormone-binding globulin measurement EFO:0004696 http://www.ebi.ac.uk/efo/EFO_0004696 Is a quantification of sex hormone binding globulin. In men the test is used in when investigating testosterone deficiency. The SHBG glycoprotein binds to circulating estradiol and testosterone, low levels of SHBG may be implicated in breast cancer etiology. SHBG level, SHBG levels uniprot:P04278 Testosterone measurement EFO:0004908 http://www.ebi.ac.uk/efo/EFO_0004908 is a quantification of testosterone, typically in serum. Testosterone is a steroid hormone.Testosterone measurement is used in the diagnosis of precocious or delayed puberty, infertility (in men and women), ovarian tumours, adrenal tumours and pituitary disorders. testosterone level, testosterone levels NCIt:C75378, SNOMEDCT:104957004 Total internal ophthalmoplegia MONDO:0001211 http://purl.obolibrary.org/obo/MONDO_0001211 - - DOID:11177, GARD:0022901, ICD9:367.52, MEDGEN:508924, SCTID:86266009, UMLS:C0152197 Triglyceride measurement EFO:0004530 http://www.ebi.ac.uk/efo/EFO_0004530 A triglyceride measurement is a quantification of triglycerides in some body fluid, used as a biomarker for cardiovascular disease. triglyceride levels NCIt:C64812 Ankle brachial index EFO:0003912 http://www.ebi.ac.uk/efo/EFO_0003912 An alternative to the ankle-brachial index. ABPI, Ankle Brachial Indices, Ankle Brachial Pressure Index (ABPI), Ankle-Brachial Index, Ankle-Brachial Indices, Brachial Index, Ankle, Brachial Index, Toe, Brachial Indices, Ankle, Brachial Indices, Toe, Index, Ankle Brachial, Index, Ankle-Brachial, Index, Toe Brachial, Index, Toe-Brachial, Indices, Ankle Brachial, Indices, Ankle-Brachial, Indices, Toe Brachial, Indices, Toe-Brachial, Toe Brachial Index, Toe Brachial Indices, Toe-Brachial Index, Toe-Brachial Indices, ankle brachial pressure index MESH:D055109, MedDRA:10062762, NCIt:C87304, SNOMEDCT:401221002, SNOMEDCT:446841001 Heel bone mineral density EFO:0009270 http://www.ebi.ac.uk/efo/EFO_0009270 Quantification of the mineral density of the heel bone - PMID:28869591 Multiple myeloma HP:0006775 http://purl.obolibrary.org/obo/HP_0006775 A malignant plasma cell tumor growing within soft tissue or within the skeleton. Plasmocytoma, Kahler's disease SNOMEDCT_US:10639003, SNOMEDCT_US:109989006, SNOMEDCT_US:415112005, SNOMEDCT_US:55921005, UMLS:C0026764, UMLS:C0032131 Motor neuron disorder MONDO:0020128 http://purl.obolibrary.org/obo/MONDO_0020128 Neurological disease involving the motor neuron. disease or disorder of motor neuron, anterior horn cell disease, disease of motor neuron, disorder of motor neuron, motor neuron disease or disorder, motor neuron disease DOID:231, EFO:0003782, GARD:0019477, ICD10CM:G12.2, ICD9:335.2, ICD9:335.8, ICD9:335.9, MEDGEN:38785, MESH:D016472, MedDRA:10028003, Orphanet:98503, SCTID:37340000, UMLS:C0085084, icd11.foundation:661720689 Abnormal pulse pressure HP:0030850 http://purl.obolibrary.org/obo/HP_0030850 An anomaly of the pulse pressure, which is defined as the systolic pressured minus the diastolic pressure. - UMLS:C0855322 Happiness NCIT:C72670 http://purl.obolibrary.org/obo/NCIT_C72670 The feeling of being pleased and content. Happiness, Happy - Grip strength measurement EFO:0006941 http://www.ebi.ac.uk/efo/EFO_0006941 quantification of the force applied by the hand to pull on or suspend from objects - - Hip circumference OBA:1000032 http://purl.obolibrary.org/obo/OBA_1000032 The circumference of a hip. circumference of hip, hip circumference trait - Body height OBA:VT0001253 http://purl.obolibrary.org/obo/OBA_VT0001253 The vertical dimension of the body of an organism, usually measured from the top of the head to the bottom of feet or hindlimbs. height of multicellular organism ATOL:0000350, EFO:0004339, EFO:0006784, EFO:0006785, EFO:0007118 Refractive error measurement EFO:0007814 http://www.ebi.ac.uk/efo/EFO_0007814 quantification of some aspect of refractive errors, which occur when the shape of the eye prevents light from focusing directly on the retina. The length of the eyeball (longer or shorter), changes in the shape of the cornea, or aging of the lens can cause refractive errors. Quantification of an individual's refractive error allows the establishemnt of a number of corrective parameters such as spherical equivalent, lens decentration and transposition - - Macular degeneration MONDO:0003004 http://purl.obolibrary.org/obo/MONDO_0003004 Loss of vision in the central portion of the retina (macula), secondary to retinal degeneration. macula lutea retinal degeneration, macula retinal degeneration, retinal degeneration of macula lutea DOID:4448, EFO:0009606, MEDGEN:7434, MESH:D008268, NCIT:C123330, SCTID:422338006, UMLS:C0024437 Canker sore MONDO:0005318 http://purl.obolibrary.org/obo/MONDO_0005318 A type of stomatitis that is characterized by small white ulcerative lesions, single or multiple, round or oval, lasting for 7-14 days and healing without scarring. It is a recurrent disease of the oral mucosa of unknown etiology. aphthous ulcer, canker sore EFO:0003938, HP:0032154, MEDGEN:445425, MESH:D013281, NCIT:C62546, SCTID:427617000, UMLS:C2937365 High Blood Pressure Service Type NCIT:C212640 http://purl.obolibrary.org/obo/NCIT_C212640 The service type that is associated with the Health Level 7 Fast Healthcare Interoperability Resources High Blood Pressure code. High Blood Pressure Service Type, High Blood Pressure - Adverse effect EFO:0009658 http://www.ebi.ac.uk/efo/EFO_0009658 An undesired harmful effect resulting from a medication or other intervention such as surgery. adverse reaction ICD10:T78, MedDRA:10060933, Wikipedia:Adverse_effect Anal canal cancer MONDO:0000405 http://purl.obolibrary.org/obo/MONDO_0000405 A malignant neoplasm involving the anal canal anal canal cancer, cancer of anal canal, malignant anal canal neoplasm, malignant neoplasm of anal canal DOID:0050688, ICD10CM:C21.1, ICD9:154.2, MEDGEN:509296, SCTID:363352004, UMLS:C0153445, icd11.foundation:655574575 Lymphomas MONDO:0005062 http://purl.obolibrary.org/obo/MONDO_0005062 A malignant (clonal) proliferation of B- lymphocytes or T- lymphocytes which involves the lymph nodes, bone marrow and/or extranodal sites. This category includes Non-Hodgkin lymphomas and Hodgkin lymphomas. MLYM, lymphoma (Hodgkin and non-Hodgkin), lymphoma (Hodgkin's and non-Hodgkin's), lymphoma, lymphoma, malignant, lymphomatous, malignant lymphoma DOID:0060058, EFO:0000574, ICD9:200.0, ICD9:200.1, ICD9:202.80, ICDO:9590/3, MEDGEN:44223, MESH:D008223, MedDRA:10025310, NANDO:2100004, NCIT:C3208, ONCOTREE:MLYM, Orphanet:223735, SCTID:118600007, UMLS:C0024299 Cutaneous melanoma MONDO:0005012 http://purl.obolibrary.org/obo/MONDO_0005012 A primary melanoma arising from atypical melanocytes in the skin. Precursor lesions include acquired and congenital melanocytic nevi, and dysplastic nevi. Several histologic variants have been recognized, including superficial spreading melanoma, acral lentiginous melanoma, nodular melanoma, and lentigo maligna melanoma. melanoma (disease) of zone of skin, zone of skin melanoma, cutaneous (skin) melanoma, cutaneous melanoma (disease), cutaneous melanoma, malignant cutaneous melanoma, malignant melanoma (of skin), stage unspecified, malignant melanoma of skin stage unspecified, malignant melanoma of skin, melanoma of skin, melanoma of the skin, skin melanoma, skin, melanoma, zone of skin melanoma (disease) DOID:8923, EFO:0000389, HP:0012056, ICD10CM:C43, ICD9:172, ICD9:172.0, ICD9:172.2, ICD9:172.3, ICD9:172.4, ICD9:172.5, ICD9:172.8, ICD9:172.9, MEDGEN:57486, NCIT:C3510, ONCOTREE:SKCM, SCTID:93655004, UMLS:C0151779 Esophageal cancer MONDO:0007576 http://purl.obolibrary.org/obo/MONDO_0007576 A primary or metastatic malignant neoplasm involving the esophagus. Ca lower third esophagus, Ca middle third esophagus, esophageal cancer, somatic, esophageal carcinoma, somatic, esophageal squamous cell carcinoma, somatic, malignant neoplasm of distal third of esophagus, malignant neoplasm of lower third of esophagus, malignant neoplasm of middle third of esophagus, malignant neoplasm of proximal third of esophagus, malignant neoplasm of upper third esophagus, malignant tumor of abdominal esophagus, malignant tumor of distal third of esophagus, malignant tumor of proximal third of esophagus, malignant tumor of the middle third of the esophagus, Ca lower third oesophagus, Ca middle third oesophagus, cancer of esophagus, cancer of oesophagus, esophageal cancer, esophagus cancer, malignant esophageal neoplasm, malignant esophageal tumor, malignant esophageal tumour, malignant esophagus neoplasm, malignant esophagus tumor, malignant neoplasm of distal third of oesophagus, malignant neoplasm of esophagus, malignant neoplasm of lower third of oesophagus, malignant neoplasm of middle third of oesophagus, malignant neoplasm of oesophagus, malignant neoplasm of proximal third of oesophagus, malignant neoplasm of the esophagus, malignant neoplasm of the oesophagus, malignant neoplasm of upper third oesophagus, malignant oesophagus neoplasm, malignant oesophagus tumour, malignant tumor of esophagus, malignant tumor of the esophagus, malignant tumour of abdominal oesophagus, malignant tumour of distal third of oesophagus, malignant tumour of oesophagus, malignant tumour of proximal third of oesophagus, malignant tumour of the middle third of the oesophagus, malignant tumour of the oesophagus, oesophagus cancer DOID:5041, GARD:0027778, ICD10CM:C15, ICD9:150.3, ICD9:150.4, ICD9:150.5, ICD9:150.8, ICD9:150.9, MEDGEN:107792, NCIT:C7478, OMIM:133239, SCTID:363402007, UMLS:C0546837, icd11.foundation:669033105 Small intestine cancer MONDO:0000956 http://purl.obolibrary.org/obo/MONDO_0000956 A primary or metastatic malignant neoplasm involving the small intestine. cancer of small intestine, malignant neoplasm of small bowel, malignant neoplasm of small intestine, malignant neoplasm of the small bowel, malignant neoplasm of the small intestine, malignant neoplasms of the small intestine, malignant small bowel neoplasm, malignant small bowel tumor, malignant small bowel tumour, malignant small intestinal neoplasm, malignant small intestine neoplasm, malignant small intestine tumor, malignant small intestine tumour, malignant tumor of small bowel, malignant tumor of small intestine, malignant tumor of the small bowel, malignant tumor of the small intestine, malignant tumour of small bowel, malignant tumour of small intestine, malignant tumour of the small bowel, malignant tumour of the small intestine, small bowel tumors, small bowel tumours, small intestine cancer DOID:10154, GARD:0009385, ICD10CM:C17, ICD9:152.9, MEDGEN:56300, NCIT:C7523, UMLS:C0153425, icd11.foundation:906379260 Testicular cancer MONDO:0005447 http://purl.obolibrary.org/obo/MONDO_0005447 A primary or metastatic malignant neoplasm that affects the testis. Representative examples include seminoma, embryonal carcinoma, sarcoma, leukemia, and lymphoma. testicular tumor, testis neoplasm, cancer of testis, malignant neoplasm of testis, malignant neoplasm of the testis, malignant testicular neoplasm, malignant testicular tumor, malignant testicular tumour, malignant testis neoplasm, malignant tumor of testis, malignant tumor of the testis, malignant tumour of testis, malignant tumour of the testis, paediatric testicular neoplasm, testicular tumour, testis cancer DOID:2998, EFO:0005088, ICD10CM:C62, ICD9:186, ICD9:186.9, MEDGEN:56313, MESH:D013736, NCIT:C7251, SCTID:363449006, UMLS:C0153594 Male reproductive organ cancer MONDO:0005836 http://purl.obolibrary.org/obo/MONDO_0005836 A primary or metastatic malignant neoplasm involving the male reproductive system. Representative examples include prostate carcinoma, penile carcinoma, testicular seminoma, and testicular embryonal carcinoma. male genital neoplasm, male reproductive system neoplasm, neoplasm of male genital organ, tumor of male reproductive system, cancer of male reproductive organ, male reproductive organ cancer, malignant Male reproductive system neoplasm, malignant Male reproductive system tumor, malignant Male reproductive system tumour, malignant male reproductive organ neoplasm, malignant neoplasm of Male reproductive system, malignant neoplasm of male genital organ, site unspecified, malignant neoplasm of male reproductive organ, malignant neoplasm of the Male reproductive system, malignant tumor of Male reproductive system, malignant tumor of male genital organ, malignant tumor of male reproductive system, malignant tumor of the Male reproductive system, malignant tumour of Male reproductive system, malignant tumour of male genital organ, malignant tumour of male reproductive system, malignant tumour of the Male reproductive system, tumour of male reproductive system DOID:3856, EFO:0007355, ICD9:187.8, ICD9:187.9, MEDGEN:102279, MESH:D005834, NCIT:C8561, SCTID:363515000, UMLS:C0153606 Hematopoietic and lymphoid system neoplasm MONDO:0002334 http://purl.obolibrary.org/obo/MONDO_0002334 Neoplasms of the hematopoietic system, including hematopoietic cell neoplasms (e.g. leukemias, lymphomas) and non-hematopoietic cell neoplasms that can affect the hematopoietic system (e.g. lymph node and splenic sarcomas). --2003 blood cancer, hematologic malignancy, hematologic neoplasm, hematopoietic cancer, hematopoietic neoplasm (morphologic abnormality), hematopoietic neoplasm, hematopoietic system neoplasm, malignant hematopoietic neoplasm (morphologic abnormality), blood neoplasm (disease), blood tumor, blood tumour, haematological tumours, haematopoietic and lymphoid system tumour, haematopoietic cancer, haematopoietic neoplasm (morphologic abnormality), haematopoietic neoplasm, haematopoietic system neoplasm, haematopoietic system tumour, haematopoietic tumours, hematopoietic and lymphoid system neoplasm, hematopoietic and lymphoid system tumor, hematopoietic system tumor, malignant haematopoietic neoplasm (morphologic abnormality), malignant haematopoietic neoplasm, neoplasm of blood, neoplasm of haematopoietic system, neoplasm of hematopoietic system, tumor of blood, tumor of hematopoietic system, tumour of blood, tumour of haematopoietic system DOID:2531, GARD:0023120, MEDGEN:268180, MESH:D019337, NCIT:C35813, SCTID:129154003, UMLS:C1512393 Skin cancer MONDO:0002898 http://purl.obolibrary.org/obo/MONDO_0002898 A malignant neoplasm involving the zone of skin cancer of zone of skin, malignant neoplasm of skin, malignant neoplasm of the skin, malignant neoplasm of zone of skin, malignant skin neoplasm, malignant skin tumor, malignant skin tumour, malignant tumor of skin, malignant tumor of the skin, malignant tumour of skin, malignant tumour of the skin, malignant zone of skin neoplasm, melanoma and non-melanoma skin cancer, skin cancer, skin cancer, Including melanoma, skin neoplasm, malignant, zone of skin cancer DOID:4159, ICD10CM:C43-C44, ICD9:173.8, ICD9:173.9, MEDGEN:40101, NCIT:C2920, SCTID:372130007, UMLS:C0007114, icd11.foundation:1706880799 Urinary system neoplasm MONDO:0021066 http://purl.obolibrary.org/obo/MONDO_0021066 Editor note: note the ONCOTREE class is more general than just bladder neoplasm of the urinary tract, neoplasm of urinary tract, renal system neoplasm, tumor of the urinary tract, tumor of urinary tract, urinary tract tumor, neoplasm of renal system, neoplasm of the urinary system, neoplasm of urinary system, renal system neoplasm (disease), renal system tumor, renal system tumour, tumor of renal system, tumor of the urinary system, tumor of urinary system, tumour of renal system, tumour of the urinary system, tumour of the urinary tract, tumour of urinary system, tumour of urinary tract, urinary system neoplasm, urinary system tumor, urinary system tumour, urinary tract neoplasm, urinary tract tumour ICD9:239.5, MEDGEN:52949, NCIT:C192666, NCIT:C3431, ONCOTREE:BLADDER, SCTID:126879004, UMLS:C0042076 Uterine cervix neoplasm MONDO:0021230 http://purl.obolibrary.org/obo/MONDO_0021230 A neoplasm (disease) that involves the uterine cervix. Cervical neoplasm, cervical tumor, cervical tumour, cervix neoplasm, cervix tumor, cervix tumour, cervix uteri neoplasm, cervix uteri tumor, cervix uteri tumour, cervix, neoplasm of cervix uteri, neoplasm of cervix, neoplasm of the cervix uteri, neoplasm of the cervix, neoplasm of the uterine cervix, neoplasm of uterine cervix, tumor of cervix uteri, tumor of cervix, tumor of the cervix uteri, tumor of the cervix, tumor of the uterine cervix, tumor of uterine cervix, tumour of cervix uteri, tumour of cervix, tumour of the cervix uteri, tumour of the cervix, tumour of the uterine cervix, tumour of uterine cervix, uterine cervix neoplasm (disease), uterine cervix tumor, uterine cervix tumour MEDGEN:40201, NCIT:C2940, ONCOTREE:CERVIX, UMLS:C0007873 Crohn's disease HP:0100280 http://purl.obolibrary.org/obo/HP_0100280 A chronic granulomatous inflammatory disease of the intestines that may affect any part of the gastrointestinal tract from mouth to anus, causing a wide variety of symptoms. It primarily causes abdominal pain, diarrhea which may be bloody, vomiting, or weight loss, but may also cause complications outside of the gastrointestinal tract such as skin rashes, arthritis, inflammation of the eye, tiredness, and lack of concentration. Crohn's disease is thought to be an autoimmune disease, in which the body's immune system attacks the gastrointestinal tract, causing inflammation. Granulomatous enteritis and colitis, Morbus Crohn SNOMEDCT_US:34000006, UMLS:C0010346 Breast benign neoplasm MONDO:0000620 http://purl.obolibrary.org/obo/MONDO_0000620 A non-metastasizing neoplasm arising from the breast parenchyma. benign breast neoplasm, benign breast tumor, benign breast tumour, benign neoplasm of breast, benign neoplasm of the breast, benign tumor of breast, benign tumor of the breast, benign tumour of breast, benign tumour of the breast, breast benign neoplasm DOID:0060082, ICD10CM:D24, ICD9:217, MEDGEN:91085, NCIT:C4505, SCTID:269485000, UMLS:C0346156, icd11.foundation:2120366482 Uterine corpus leiomyoma MONDO:0007886 http://purl.obolibrary.org/obo/MONDO_0007886 A benign smooth muscle neoplasm arising from the body of the uterus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. leiomyoma, uterine, UL, body of uterus fibroid, body of uterus leiomyoma, corpus uteri fibroid, corpus uteri leiomyoma, fibroid of body of uterus, fibroid of corpus uteri, fibroid of the body of uterus, fibroid of the corpus uteri, fibroid of the uterine body, fibroid of the uterine corpus, fibroid of uterine body, fibroid of uterine corpus, leiomyoma of body of uterus, leiomyoma of corpus uteri, leiomyoma of the body of uterus, leiomyoma of the corpus uteri, leiomyoma of the uterine body, leiomyoma of the uterine corpus, leiomyoma of uterine body, leiomyoma of uterine corpus, uterine body fibroid, uterine body leiomyoma, uterine corpus fibroid, uterine corpus leiomyoma, uterine corpus leiomyomata, uterine fibroid, uterine leiomyoma, uterus fibroma DOID:13223, EFO:0000731, GARD:0024585, HP:0000131, ICD10CM:D25, ICD9:218, ICD9:218.9, MEDGEN:21801, NCIT:C3434, OMIM:150699, ONCOTREE:ULM, SCTID:95315005, UMLS:C0042133 Benign urinary system neoplasm MONDO:0004180 http://purl.obolibrary.org/obo/MONDO_0004180 A non-metastasizing neoplasm that arises from the organs that comprise the urinary system. Representative examples include renal oncocytoma, bladder inverted papilloma, and urothelial papilloma. benign neoplasm of the urinary tract, benign neoplasm of urinary tract, benign tumor of the urinary tract, benign tumor of urinary tract, neoplasm of urinary system, tumor of the urinary system, tumor of urinary tract, urinary tract neoplasm, benign tumour of the urinary tract, benign tumour of urinary tract, benign urinary system neoplasm, benign urinary tract neoplasm, benign urinary tract tumor, benign urinary tract tumour, renal system benign neoplasm, tumour of the urinary system, tumour of urinary tract DOID:731, ICD9:223.89, ICD9:223.9, MEDGEN:146348, MESH:D014571, NCIT:C192667, NCIT:C4893, SCTID:92468007, UMLS:C0686167 Agranulocytosis MONDO:0001609 http://purl.obolibrary.org/obo/MONDO_0001609 A decrease in the number of mature granulocytes (neutrophils, eosinophils, and basophils) in the peripheral blood. granulocytopenia DOID:12987, ICD10CM:D70, ICD10WHO:D70, ICD9:288.8, MEDGEN:7932, MESH:D000380, NCIT:C2863, SCTID:417672002, UMLS:C0001824, icd11.foundation:1913706366 Background diabetic retinopathy MONDO:0001661 http://purl.obolibrary.org/obo/MONDO_0001661 An early stage of diabetic retinopathy that is characterized by retinal hemorrhage and exudate, but without proliferation of the blood vessels. non-proliferative diabetic retinopathy DOID:13208, ICD9:362.01, ICD9:362.03, MEDGEN:2531, NCIT:C35668, SCTID:390834004, UMLS:C0004606 Diabetic ketoacidosis MONDO:0012819 http://purl.obolibrary.org/obo/MONDO_0012819 The metabolic condition resulted from uncontrolled diabetes mellitus, in which the shift of acid-base status of the body toward the acid side because of loss of base or retention of acids other than carbonic acid is accompanied by the accumulation of ketone bodies in body tissues and fluids. KPD DOID:1837, EFO:1000897, ICD9:250.1, ICD9:250.10, MEDGEN:8351, MESH:D016883, MedDRA:10012671, SCTID:420422005, UMLS:C0011880 Nontoxic goiter MONDO:0001658 http://purl.obolibrary.org/obo/MONDO_0001658 Sporadic enlargement of the thyroid gland that is not associated with changes in thyroid function or malignancy. non-toxic simple goiter, euthyroid goiter, euthyroid goitre, non-toxic goiter, nontoxic goiter DOID:13195, MEDGEN:113172, NCIT:C35271, UMLS:C0221777 Thyrotoxicosis MONDO:0010138 http://purl.obolibrary.org/obo/MONDO_0010138 A hypermetabolic syndrome caused by the elevation of thyroid hormone levels in the serum. Signs and symptoms include tachycardia, palpitations, tremor, weight loss, warm weather intolerance, and moist skin. Causes include Graves disease, toxic nodular goiter, toxic thyroid nodule, and lymphocytic thyroiditis. Graves disease, susceptibility to, 1, GRD1 DOID:7997, EFO:0009190, ICD10CM:E05, ICD9:242, ICD9:242.80, ICD9:242.90, MEDGEN:11814, MESH:D013971, NCIT:C61469, SCTID:90739004, UMLS:C0040156, icd11.foundation:1470387017 Primary hyperparathyroidism MONDO:0010837 http://purl.obolibrary.org/obo/MONDO_0010837 Editor note: check relationship to parent and familiar form primary hyperparathyroidism (disease), primary hyperparathyroidism DOID:11202, EFO:0008519, HP:0008200, ICD10CM:E21.0, ICD9:252.01, MEDGEN:66354, MESH:D049950, NCIT:C48280, SCTID:36348003, UMLS:C0221002, icd11.foundation:817194045 Endometriosis of pelvic peritoneum MONDO:0001285 http://purl.obolibrary.org/obo/MONDO_0001285 - - DOID:11429, ICD10CM:N80.3, ICD9:617.3, MEDGEN:510249, SCTID:198251001, UMLS:C0156345, icd11.foundation:1015401835 Somatoform disorders MONDO:0003117 http://purl.obolibrary.org/obo/MONDO_0003117 A category of psychiatric disorders which are characterized by the presence of physical symptoms that suggest a medical condition but are not fully explained by any known medical reasons. somatoform disorder DOID:4737, EFO:0009687, ICD9:300.8, ICD9:306.8, MEDGEN:20835, MESH:D013001, NCIT:C34956, SCTID:31297008, UMLS:C0037650 Dementia MONDO:0001627 http://purl.obolibrary.org/obo/MONDO_0001627 Loss of intellectual abilities interfering with an individual's social and occupational functions. Causes include Alzheimer's disease, brain injuries, brain tumors, and vascular disorders. dementia (disease), dementia DOID:1307, HP:0000726, ICD10CM:F02, ICD9:290.8, ICD9:294.1, ICD9:294.8, MEDGEN:99229, MESH:D003704, NCIT:C4786, SCTID:52448006, UMLS:C0497327, icd11.foundation:1468768235, icd11.foundation:546689346 Mononeuropathy HP:0009831 http://purl.obolibrary.org/obo/HP_0009831 A focal lesion of a single peripheral nerve. Damage to a sensory nerve is accompanied by sensory impairment of all modalities in the affected anatomic distribution. Single damaged nerve SNOMEDCT_US:128189008, UMLS:C0494491 Carpal tunnel syndrome MONDO:0007275 http://purl.obolibrary.org/obo/MONDO_0007275 Entrapment of the median nerve in the wrist that is characterized by numbness, tingling and painful movement. CTS, carpal tunnel syndrome DOID:12169, EFO:0004143, GARD:0027775, ICD10CM:G56.0, ICD9:354.0, MEDGEN:2856, MESH:D002349, NCIT:C34450, OMIMPS:115430, Orphanet:50838, SCTID:57406009, UMLS:C0007286, icd11.foundation:1275186848 Central nervous system disorder MONDO:0002602 http://purl.obolibrary.org/obo/MONDO_0002602 A disease involving the central nervous system. central nervous disease, disease or disorder of central nervous system, CNS disorder, central nervous system disease or disorder, central nervous system disease, central nervous system disorder, disease of central nervous system, disease of the central nervous system, disorder of central nervous system DOID:331, EFO:0009386, MEDGEN:892343, MESH:D002493, NCIT:C2934, SCTID:23853001, UMLS:C4021765 Guillain-Barre syndrome MONDO:0016218 http://purl.obolibrary.org/obo/MONDO_0016218 A spectrum of rare post-infectious neuropathies that usually occur in otherwise healthy patients. GBS is clinically heterogeneous and encompasses acute inflammatory demyelinating polyradiculoneuropathy (AIDP), acute motor axonal neuropathy (AMAN) and acute motor-sensory axonal neuropathy (AMSAN), Miller-Fisher syndrome (MFS) and some other regional variants. Guillain-Barre-Strohl syndrome, post-infectious polyneuritis, postinfectious polyneuritis, GBS, Guillain Barre syndrome, Guillain Barr¨¦ syndrome, Guillain-Barr¨¦ syndrome, Guillain-Barr¨¦-Strohl syndrome, Landry's ascending paralysis, Landry-Guillain-Barre-Strohl syndrome, acute autoimmune peripheral neuropathy, acute immune-mediated polyneuropathy, acute inflammatory demyelinating polyneuropathy, acute inflammatory neuropathy, post-infective polyneuritis DOID:12842, EFO:0007292, GARD:0006554, ICD10CM:G61.0, MEDGEN:5399, MESH:D020275, MedDRA:10018767, NCIT:C116345, Orphanet:2103, SCTID:40956001, UMLS:C0018378 Sleep apnea syndrome MONDO:0005296 http://purl.obolibrary.org/obo/MONDO_0005296 A disorder characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep. breathing-related sleep disorder, SDB, apnea syndrome, sleep, apnea syndromes, sleep, apnea, sleep, apneas, sleep, breathing, sleep-disordered, hypersomnia with periodic respiration, hypopnea, sleep, hypopneas, sleep, mixed central and obstructive sleep apnea, mixed sleep Apneas, mixed sleep apnea, sleep apnea syndrome, sleep apnea, sleep apnea, mixed central and obstructive, sleep apnea, mixed, sleep apneas, sleep apneas, mixed, sleep disordered breathing, sleep hypopnea, sleep hypopneas, sleep-disordered breathing DOID:0050847, EFO:0003877, HP:0010535, ICD10CM:G47.3, ICD9:780.57, MEDGEN:11458, MESH:D012891, NCIT:C148023, SCTID:111489007, SCTID:73430006, UMLS:C0037315 Polyneuropathy MONDO:0021718 http://purl.obolibrary.org/obo/MONDO_0021718 Inflammation of several peripheral nerves. Inflammatory polyneuropathy, Multiple neuritis, Polyneuritides, polyneuritis GTR:AN1353837, GTR:AN1355640, HP:0031003, MEDGEN:46005, NCIT:C26864, SCTID:76886005, UMLS:C0032541 Hordeolum MONDO:0005800 http://purl.obolibrary.org/obo/MONDO_0005800 An acute, localized swelling of the eyelid that may be external or internal and usually is a pyogenic (typically staphylococcal) infection or abscess. Stye, blepharitis of eyelid gland, eyelid gland blepharitis DOID:9909, MEDGEN:6884, MESH:D006726, NCIT:C118722, SCTID:397513003, UMLS:C0019917, icd11.foundation:1259721857 Otitis externa MONDO:0004795 http://purl.obolibrary.org/obo/MONDO_0004795 Inflammation of the anatomical structures of the outer ear and ear canal secondary to an infectious process. Bacterial etiology is most common, but fungal infection is also possible. Symptoms include erythema, edema, and pain. external Ear infection, infectious otitis externa, otitis externa, outer Ear infection, swimmer's Ear, swimmer's ear DOID:9463, EFO:0009560, ICD10CM:H60, ICD10CM:H60.33, ICD10WHO:H60, ICD9:380.1, ICD9:380.10, MEDGEN:10505, MESH:D010032, NCIT:C3299, NCIT:C79601, SCTID:3135009, UMLS:C0029878, icd11.foundation:1303990434 Blepharochalasis HP:0010749 http://purl.obolibrary.org/obo/HP_0010749 Most patients who have blepharochalasis present in an atrophic condition with atrophy of redundant eyelid skin and superior nasal fat pads. Most of these atrophic patients do not go through a hypertrophic phase. Multiple attacks of eyelid edema result in thinning, stretching, and atrophy of eyelid tissues. The eyelid skin becomes redundant, discolored, and atrophic, appearing like wrinkled cigarette paper. The upper eyelids are more commonly affected, but the lower eyelids may also be involved. Blepharochalasis is not synonymous with dermatochalasis. Saggy upper eyelid skin SNOMEDCT_US:47704002, UMLS:C0005742 Chalazion MONDO:0005844 http://purl.obolibrary.org/obo/MONDO_0005844 An eyelid cyst caused by the blockage of a meibomian gland. Meibomian cyst, chalazia, chalazion, cyst, Meibomian DOID:9903, EFO:0007363, ICD10CM:H00.1, ICD9:373.2, MEDGEN:869, MESH:D017043, NCIT:C26717, SCTID:1482004, UMLS:C0007933, icd11.foundation:777918741 Lens disorder MONDO:0001176 http://purl.obolibrary.org/obo/MONDO_0001176 Includes cataracts, lens subluxation and aphakia disease or disorder of lens of camera-type eye, disease of lens of camera-type eye, disorder of lens of camera-type eye, lens disorder, lens of camera-type eye disease or disorder, lens of camera-type eye disease DOID:110, EFO:0009674, ICD10CM:H25-H28, ICD9:379.39, MEDGEN:892382, MESH:D007905, NCIT:C26812, SCTID:10810001, UMLS:C0549651 Impacted cerumen HP:0030788 http://purl.obolibrary.org/obo/HP_0030788 Blockage of the external auditory canal by a buildup of earwax. - SNOMEDCT_US:18070006, UMLS:C0021092 Otorrhoea SNOMED:65668001 http://snomed.info/id/65668001 Otorrhoea Discharge of ear, Drainage from external ear canal, Otorrhea, Otorrhea (disorder), Otorrhoea - Hearing loss disorder MONDO:0005365 http://purl.obolibrary.org/obo/MONDO_0005365 A partial or complete loss of hearing in one or both ears. It is classified as conductive, sensory, or central. loss of hearing, deafness, hearing impairment, hearing loss, hypoacuses, hypoacusis, loss, hearing EFO:0004238, ICD10CM:H90, ICD9:389, ICD9:389.8, ICD9:389.9, MEDGEN:235586, MESH:D034381, NCIT:C35731, SCTID:15188001, UMLS:C1384666 Myocardial ischemia MONDO:0024644 http://purl.obolibrary.org/obo/MONDO_0024644 A disorder of cardiac function caused by insufficient blood flow to the muscle tissue of the heart. The decreased blood flow may be due to narrowing of the coronary arteries (coronary artery disease), to obstruction by a thrombus (coronary thrombosis), or less commonly, to diffuse narrowing of arterioles and other small vessels within the heart. Severe interruption of the blood supply to the myocardial tissue may result in necrosis of cardiac muscle (myocardial infarction). IHD, disease, ischaemic heart, disease, ischemic heart, diseases, ischaemic heart, diseases, ischemic heart, heart disease, ischaemic, heart disease, ischemic, heart diseases, ischaemic, heart diseases, ischemic, ischaemic disease of myocardium, ischaemic heart disease, ischaemic heart diseases, ischemia, myocardial, ischemias, myocardial, ischemic disease of myocardium, ischemic heart disease, ischemic heart diseases, myocardial Ischemias, myocardium ischaemic disease, myocardium ischemic disease EFO:1001375, ICD10CM:I20-I25, MEDGEN:101801, MESH:D017202, NANDO:2100070, NCIT:C50625, SCTID:414545008, UMLS:C0151744, icd11.foundation:1964269418 Cor pulmonale MONDO:0004596 http://purl.obolibrary.org/obo/MONDO_0004596 Hypertrophy and dilation of the right ventricle of the heart that is caused by pulmonary hypertension. This condition is often associated with pulmonary parenchymal or vascular diseases, such as chronic obstructive pulmonary disease and pulmonary embolism. cor pulmonale, disease, pulmonary heart, diseases, pulmonary heart, heart disease, pulmonary, heart diseases, pulmonary, pulmonary heart disease, pulmonary heart diseases DOID:8515, ICD10CM:I27.81, MEDGEN:18765, MESH:D011660, SCTID:274096000, UMLS:C0034072, icd11.foundation:738218522 Hemorrhoid MONDO:0004872 http://purl.obolibrary.org/obo/MONDO_0004872 Dilated veins in the anal canal. Hemorrhoids, Haemorrhoids, hemorrhoid DOID:9746, EFO:0009552, ICD9:455, ICD9:455.8, MEDGEN:5507, MESH:D006484, NCIT:C26792, SCTID:70153002, UMLS:C0019112, icd11.foundation:1352501137 Odontogenesis GO:0042476 http://purl.obolibrary.org/obo/GO_0042476 The process whose specific outcome is the progression of a tooth or teeth over time, from formation to the mature structure(s). A tooth is any hard bony, calcareous, or chitinous organ found in the mouth or pharynx of an animal and used in procuring or masticating food. odontogenesis of calcareous or chitinous tooth, odontogeny, odontosis, tooth development, tooth morphogenesis Wikipedia:Odontogenesis Esophageal obstruction HP:0005240 http://purl.obolibrary.org/obo/HP_0005240 - - SNOMEDCT_US:405247003, UMLS:C0239296 Inguinal hernia HP:0000023 http://purl.obolibrary.org/obo/HP_0000023 Inguinal hernia appears as a bulge in the groin. - SNOMEDCT_US:396232000, UMLS:C0019294, MEDDRA:10022016 Femoral hernia EFO:1001791 http://www.ebi.ac.uk/efo/EFO_1001791 A groin hernia occurring inferior to the inguinal ligament and medial to the FEMORAL VEIN and FEMORAL ARTERY. The femoral hernia sac has a small neck but may enlarge considerably when it enters the subcutaneous tissue of the thigh. It is caused by defects in the ABDOMINAL WALL. Hernia, Femoral ICD10:K41, MESH:D006550, MedDRA:10016434, MedDRA:10016448, NCIt:C34689, SNOMEDCT:50063009 Diaphragmatic hernia (disorder) SNOMED:39839004 http://snomed.info/id/39839004 Diaphragmatic hernia Diaphragmatic hernia, Diaphragmatic hernia (disorder) - Hernia HP:0100790 http://purl.obolibrary.org/obo/HP_0100790 - Hernias SNOMEDCT_US:414403008, SNOMEDCT_US:52515009, UMLS:C0019270 Crohn disease MONDO:0005011 http://purl.obolibrary.org/obo/MONDO_0005011 A gastrointestinal disorder characterized by chronic inflammation involving all layers of the intestinal wall, noncaseating granulomas affecting the intestinal wall and regional lymph nodes, and transmural fibrosis. Crohn disease most commonly involves the terminal ileum; the colon is the second most common site of involvement. Crohn disease, Crohn's disease of large bowel, Crohn's disease, paediatric Crohn's disease, pediatric Crohn's disease, regional enteritis DOID:8778, EFO:0000384, ICD10CM:K50, ICD9:555.1, MEDGEN:3664, MESH:D003424, NANDO:1200444, NANDO:1200446, NANDO:2200921, NCIT:C2965, Orphanet:206, SCTID:7620006, UMLS:C0010346, icd11.foundation:1267652425 Intestinal disorder MONDO:0005020 http://purl.obolibrary.org/obo/MONDO_0005020 A non-neoplastic or neoplastic disorder that affects the small or large intestine. disease or disorder of intestine, disease of intestine, disease, intestinal, diseases, intestinal, disorder of intestine, intestinal disease, intestinal disorder, intestine disease or disorder, intestine disease DOID:5295, EFO:0009431, ICD9:520-579, ICD9:560-569, ICD9:564, ICD9:564.4, ICD9:569, ICD9:569.4, ICD9:569.49, ICD9:569.89, ICD9:569.9, ICD9:570-579, ICD9:575, MEDGEN:7130, MESH:D007410, NCIT:C26801, SCTID:85919009, UMLS:C0021831 Cholelithiasis MONDO:0012672 http://purl.obolibrary.org/obo/MONDO_0012672 The presence of crystallized deposits forming in the gallbladder or biliary tree, primarily composed of cholesterol, bilirubin, and bile. gallstones DOID:10211, EFO:0004799, ICD10CM:K80, ICD10WHO:K80, ICD9:574, ICD9:574.20, ICD9:574.5, MEDGEN:3039, MESH:D002769, NCIT:C122822, SCTID:266474003, UMLS:C0008350, icd11.foundation:1268183934 Intestinal malabsorption SNOMED:197476001 http://snomed.info/id/197476001 Intestinal malabsorption Intestinal malabsorption, Intestinal malabsorption (disorder) - Actinic keratosis MONDO:0005173 http://purl.obolibrary.org/obo/MONDO_0005173 A precancerous lesion of the skin composed of atypical keratinocytes. It is characterized by the presence of thick, scaly patches of skin. Several histologic variants have been described, including atrophic, acantholytic, and hyperkeratotic variants. actinic (solar) keratosis, actinic keratosis (disease), actinic keratosis, solar keratosis DOID:8866, EFO:0002496, HP:0025127, ICD10CM:L57.0, ICD9:702.0, ICD9:702.19, MEDGEN:9627, MESH:D055623, NCIT:C3148, SCTID:201101007, UMLS:C0022602, icd11.foundation:1803982621 Psoriasis MONDO:0005083 http://purl.obolibrary.org/obo/MONDO_0005083 An autoimmune condition characterized by red, well-delineated plaques with silvery scales that are usually on the extensor surfaces and scalp. They can occasionally present with these manifestations: pustules; erythema and scaling in intertriginous areas, and erythroderma, that are often distributed on extensor surfaces and scalp. - DOID:8893, EFO:0000676, ICD10CM:L40, ICD10WHO:L40, ICD9:696, ICD9:696.1, ICD9:696.5, ICD9:696.8, MEDGEN:10997, MESH:D011565, NCIT:C3346, OMIMPS:177900, SCTID:9014002, UMLS:C0033860, icd11.foundation:63698555 Chronic sphenoidal sinusitis MONDO:0001123 http://purl.obolibrary.org/obo/MONDO_0001123 Inflammation of the sphenoid sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties. chronic sphenoid sinusitis, sphenoid sinusitis, chronic DOID:10793, ICD10CM:J32.3, ICD9:473.3, MEDGEN:3087, NCIT:C34480, SCTID:38961000, UMLS:C0008712, icd11.foundation:627227610 Rosacea MONDO:0006604 http://purl.obolibrary.org/obo/MONDO_0006604 A chronic erythematous skin disorder that affects the face. It is characterized by the development of redness in the cheeks, nose, and/or forehead and telangiectasia. Sometimes, the erythematous changes may involve the eyelids. acne rosacea DOID:8881, EFO:1000760, ICD10CM:L71, ICD10WHO:L71, ICD9:695.3, MEDGEN:11269, MESH:D012393, NCIT:C97136, SCTID:398909004, UMLS:C0035854, Wikipedia:Rosacea, icd11.foundation:134161404 Epidermal thickening HP:0011368 http://purl.obolibrary.org/obo/HP_0011368 Thickening of the epidermal layer of the skin. Abnormality of keratinization UMLS:C0494876, UMLS:C4020752 Arthropathy MONDO:0006816 http://purl.obolibrary.org/obo/MONDO_0006816 Any disorder of the joints. Joint ankylosis of the ankle and foot, Joint ankylosis of the forearm, Joint ankylosis of the hand, Joint ankylosis of the lower leg, Joint ankylosis of the pelvic region and thigh, Joint ankylosis of the shoulder region, Joint ankylosis of the upper arm, ankylosis of ankle and foot joint, ankylosis of forearm joint, ankylosis of hand joint, ankylosis of joint of multiple sites, ankylosis of joint of pelvic region and thigh, ankylosis of joint of shoulder region, ankylosis of lower leg joint, ankylosis of multiple joints, ankylosis of upper arm joint, disease or disorder of skeletal joint, disorder, Joint, infectious arthropathy, Joint disorder, arthropathy, disease of skeletal joint, disorder of skeletal joint, skeletal joint disease or disorder, skeletal joint disease DOID:381, EFO:1000999, ICD9:711, ICD9:716.80, ICD9:716.88, ICD9:716.9, ICD9:716.90, ICD9:716.98, ICD9:719.80, ICD9:719.88, ICD9:719.89, ICD9:719.9, ICD9:719.90, ICD9:719.98, MEDGEN:7190, MESH:D007592, MedDRA:10003285, NCIT:C35760, SCTID:399269003, UMLS:C0022408 Cartilage disease EFO:0005802 http://www.ebi.ac.uk/efo/EFO_0005802 Softening and degeneration of the CARTILAGE. Pathological processes involving the chondral tissue (CARTILAGE). Cartilage Diseases, Cartilage disorder, Chondropathy (disorder) DOID:1222, ICD10:M94, MESH:D002357, SNOMEDCT:50927007 De Quervain disease MONDO:0006721 http://purl.obolibrary.org/obo/MONDO_0006721 Stenosing tenosynovitis of the abductor pollicis longus and extensor pollicis brevis tendons in the first dorsal wrist compartment. The presenting symptoms are usually pain and tenderness at the radial styloid. The cause is almost always related to overuse injury or is associated with rheumatoid arthritis. radial styloid tenosynovitis DOID:14107, EFO:1000891, ICD10CM:M65.4, ICD9:727.04, MEDGEN:101771, MESH:D053684, SCTID:21794005, UMLS:C0149870 Dupuytren Contracture EFO:0004229 http://www.ebi.ac.uk/efo/EFO_0004229 A fibromatosis of the palmar fascia characterized by thickening and contracture of the fibrous bands on the palmar surfaces of the hand and fingers. It arises most commonly in men between the ages of 30 and 50. Dupuytren's Contracture, Dupuytren's Disease MESH:D004387, SNOMEDCT:274142002, SNOMEDCT:410812005 Fibroblastic disorders EFO:0009432 http://www.ebi.ac.uk/efo/EFO_0009432 A disorder that affects fibroblasts. fibroblastic disease ICD10:M72, ISBN-10:0632067101, ISBN-13:978-0632067107 Shoulder impingement syndrome MONDO:0006968 http://purl.obolibrary.org/obo/MONDO_0006968 Compression of the rotator cuff tendons and subacromial bursa between the humeral head and structures that make up the coracoacromial arch and the humeral tuberosities. This condition is associated with subacromial bursitis and rotator cuff (largely supraspinatus) and bicipital tendon inflammation, with or without degenerative changes in the tendon. Pain that is most severe when the arm is abducted in an arc between 40 and 120 degrees, sometimes associated with tears in the rotator cuff, is the chief symptom. (From Jablonski's Dictionary of Syndromes and Eponymic Diseases, 2d ed) shoulder impingement syndrome (disorder) [ambiguous] DOID:14276, EFO:1001178, ICD10CM:M75.4, ICD9:726.2, MEDGEN:138249, MESH:D019534, MedDRA:10049039, SCTID:202849001, UMLS:C0376685 Knee injury EFO:0009507 http://www.ebi.ac.uk/efo/EFO_0009507 Injury to a knee. - ICD10:M23, ICD10:S83, MedDRA:10049032, NCIt:C34753 Synovium disorder MONDO:0056799 http://purl.obolibrary.org/obo/MONDO_0056799 A disease or disorder that involves the layer of synovial tissue. disease or disorder of layer of synovial tissue, disorder of synovium, layer of synovial tissue disease, disease of layer of synovial tissue, disorder of layer of synovial tissue, layer of synovial tissue disease or disorder ICD9:727.89, ICD9:727.9, MEDGEN:538212, SCTID:3519007, UMLS:C0263945 Stenosing tenosynovitis EFO:0010822 http://www.ebi.ac.uk/efo/EFO_0010822 A disorder characterised by catching or locking of the involved finger. trigger finger MedDRA:10044654, Wikipedia:Trigger_finger Scoliosis MONDO:0005392 http://purl.obolibrary.org/obo/MONDO_0005392 A congenital or acquired spinal deformity characterized by lateral curvature of the spine. - DOID:0060249, EFO:0004273, HP:0002650, ICD10CM:M41, ICD10WHO:M41, ICD9:737.43, MEDGEN:11348, MESH:D012600, NCIT:C78603, SCTID:298382003, UMLS:C0036439, icd11.foundation:1925604007 Cervical disk degenerative disorder MONDO:0044343 http://purl.obolibrary.org/obo/MONDO_0044343 Any degenerative disorder affecting one or more vertebral disks of the cervical spine. degeneration of cervical intervertebral disk, cervical Disc Degeneration, cervical Disc degenerative disease, cervical Disc degenerative disorder, cervical region of vertebral column intervertebral disc degenerative disorder, cervical region of vertebral column intervertebral disk degenerative disorder, degeneration of cervical intervertebral disc, intervertebral disc degenerative disorder of cervical region of vertebral column, intervertebral disk degenerative disorder of cervical region of vertebral column EFO:0009537, MEDGEN:96081, NCIT:C27156, SCTID:69195002, UMLS:C0410606 Tenosynovitis MONDO:0004855 http://purl.obolibrary.org/obo/MONDO_0004855 Inflammation of the synovial lining of a tendon sheath. Causes include trauma, tendon stress, bacterial disease (gonorrhea, tuberculosis), rheumatic disease, and gout. Common sites are the hand, wrist, shoulder capsule, hip capsule, hamstring muscles, and Achilles tendon. The tendon sheaths become inflamed and painful, and accumulate fluid. Joint mobility is usually reduced. Tenosynovitides, tendon sheath inflammation DOID:970, EFO:1001435, MEDGEN:52670, MESH:D013717, SCTID:67801009, UMLS:C0039520, icd11.foundation:163006370 Disorder of continuity of bone SNOMED:240194000 http://snomed.info/id/240194000 Disorder of continuity of bone Disorder of continuity of bone, Disorder of continuity of bone (disorder) - Memory impairment EFO:0001072 http://www.ebi.ac.uk/efo/EFO_0001072 - Memory Impairment Adverse Event MedDRA:10027175, NCIt:C55427, NCIt:C78444, SNOMEDCT:386807006 Nephrolithiasis MONDO:0008171 http://purl.obolibrary.org/obo/MONDO_0008171 The presence of a calculus in the pelvis of the kidney; this is most often composed of mineral salts and proteins. calculus of kidney and ureter, CAON, kidney stone, renal calculi DOID:585, EFO:0004253, ICD9:592, MEDGEN:98227, MESH:D053040, NCIT:C114667, SCTID:266556005, UMLS:C0392525 Prolapse of female genital organ MONDO:0001592 http://purl.obolibrary.org/obo/MONDO_0001592 Editor note: requires review - DOID:1284, ICD10CM:N81, ICD9:618.8, ICD9:618.89, MEDGEN:510253, SCTID:73998008, UMLS:C0156349 Ectopic pregnancy MONDO:0000755 http://purl.obolibrary.org/obo/MONDO_0000755 An abnormal pregnancy in which the conception is implanted outside the endometrial cavity. pregnancy, ectopic, extrauterine pregnancy DOID:0060329, ICD10WHO:O00, ICD9:633, ICD9:633.8, ICD9:633.9, ICD9:633.90, MEDGEN:18618, MESH:D011271, NCIT:C34945, SCTID:34801009, UMLS:C0032987, icd11.foundation:1563334645 Pulmonary aspergilloma MONDO:0000266 http://purl.obolibrary.org/obo/MONDO_0000266 A aspergillosis that involves the lung. lung aspergillosis DOID:0050153, EFO:1001834, GARD:0022738, MEDGEN:390019, MESH:D055732, UMLS:C2350529 Fecal incontinence EFO:0009523 http://www.ebi.ac.uk/efo/EFO_0009523 Involuntary passage of stool from the rectum. [ NCI ] faecal incontinence ICD10:R15, MESH:D005242, MedDRA:10016296, NCIt:C78498, SNOMEDCT:72042002 Ascites HP:0001541 http://purl.obolibrary.org/obo/HP_0001541 Ascites is commonly associated with liver disease that has resulted in portal hypertension and low serum albumin levels. Peritoneal effusion, Accumulation of fluid in the abdomen SNOMEDCT_US:389026000, UMLS:C0003962 Haematuria AE OAE:0009355 http://purl.obolibrary.org/obo/OAE_0009355 This is an AE which is defined as the presence of blood or red blood cells in the urine. blood in urine AE, hematuria adverse event MedDRA:10018956 Spondyloarthropathy MONDO:0005095 http://purl.obolibrary.org/obo/MONDO_0005095 A group of inflammatory rheumatic diseases associated with arthritis and enthesitis, and often involving the axial skeleton. The most common form of spondyloarthritis is ankylosing spondylitis. Other forms include axial spondyloarthritis, peripheral spondyloarthritis, reactive arthritis, psoriatic arthritis/spondylitis and enteropathic arthritis/spondylitis. seronegative spondyloarthropathy, spondylarthropathy, spondyloarthritis DOID:1123, EFO:0000706, MEDGEN:181888, NCIT:C116778, UMLS:C0949691 Inflammatory spondylopathy MONDO:0001434 http://purl.obolibrary.org/obo/MONDO_0001434 - inflammatory spondylopathy in disease classified elsewhere, inflammatory spondylopathies in disease classified elsewhere DOID:12105, ICD9:720.81, ICD9:720.89, ICD9:720.9, MEDGEN:215416, SCTID:202649003, UMLS:C0949690 Nervous system disorder MONDO:0005071 http://purl.obolibrary.org/obo/MONDO_0005071 'psychiatric disorder' is not classified as a 'nervous system disorder' in Mondo (though it is often as such): the hallmarks of psychiatric disorders are based in behavior and emotional state, and the relation with nervous system malfunction or damage is not always clearly determined. disease or disorder of nervous system, neurologic disease, neurological disease, disease of nervous system, disorder of nervous system, nervous system disease or disorder, nervous system disease, nervous system disorder, neurologic disorder, neurological disorder DOID:863, EFO:0000618, ICD10CM:G00-G99, ICD9:349.89, ICD9:349.9, MEDGEN:14336, MESH:D009422, NCIT:C26835, SCTID:118940003, UMLS:C0027765, Wikipedia:Nervous_system_disease Diseases of the respiratory system HP:0002086 http://purl.obolibrary.org/obo/HP_0002086 An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles. Respiratory abnormality UMLS:C4018871 Digestive system disorder MONDO:0004335 http://purl.obolibrary.org/obo/MONDO_0004335 A disease or disorder that involves the digestive system. disease or disorder of digestive system, digestive disease, digestive system disease or disorder, digestive system disease, digestive system disorder, disease of digestive system, disorder of digestive system, gastroenterological system disease, gastroenterological system disorder, gastrointestinal disorder, gastrointestinal system disease, gastrointestinal system disorder, stomach or intestinal disorder DOID:77, ICD10CM:K00-K95, ICD9:520-579, ICD9:V47.3, MEDGEN:892790, MESH:D005767, NANDO:1100013, NCIT:C2990, SCTID:53619000, UMLS:C4023588, icd11.foundation:1256772020 Disease of genitourinary system EFO:0009663 http://www.ebi.ac.uk/efo/EFO_0009663 A disease that involves the genitourinary system. [database_cross_reference: MONDO:patterns/location] - ICD10:N99, MONDO:0021145 Iron amount OBA:VT0001770 http://purl.obolibrary.org/obo/OBA_VT0001770 The proportion, quantity, or volume in a body tissue or fluid of this metallic element that normally occurs in the heme of hemoglobin, myoglobin, transferrin, ferritin, and iron-containing porphyrins; it is an essential component of enzymes such as catalase, peroxidase, and various cytochromes. anatomical entity iron atom amount - Laterality measurement EFO:0008372 http://www.ebi.ac.uk/efo/EFO_0008372 quantification of some aspect of laterality such as scoring concepts as unilateral or bilateral - PMID:28775256 Tobacco addiction, susceptibility to MONDO:0100460 http://purl.obolibrary.org/obo/MONDO_0100460 An inherited susceptibility or predisposition to developing nicotine dependence. nicotine addiction, protection from, susceptibility to tobacco addiction, cigarette habituation, susceptibility to, nicotine addiction, susceptibility to, nicotine dependence, protection against, nicotine dependence, susceptibility to, smoking habit, susceptibility to, tobacco addiction, susceptibility to MEDGEN:348778, OMIM:188890, UMLS:C1861063 Irritability HP:0000737 http://purl.obolibrary.org/obo/HP_0000737 Consider the context of the individual experience; the state of being irritable implies a change from a recognized baseline. Irritability as a trait implies an enduring feature (years) of the individual. Affect lability, Behavioral irritation state, Dysphoric agitation, Elevated frustration, Emotional overactivity, Exasperation, Frustration intolerance, Heightened agitation state, Heightened emotional reactivity, Heightened reactivity state, Hyperreactivity, Increased emotional instability, Increased emotional sensitivity, Irritable mood, Mood volatility, Overreactive emotional state, Oversensitivity, Cranky, Easily annoyed, Easily bothered, Easily upset, Grumpy, Hot-temper, Irritability, Irritable, On edge, Quick-temper, Short fuse, Short tempered UMLS:C2700617 Feeling tense measurement EFO:0009596 http://www.ebi.ac.uk/efo/EFO_0009596 Quantification of whether an individual feels or felt tense. - PMID:29500382 Bipolar depression MONDO:0024613 http://purl.obolibrary.org/obo/MONDO_0024613 The depressive stage of bipolar disorder. bipolar affective disorder, current episode depression, bipolar depression MEDGEN:585, NCIT:C34424, SCTID:191627008, UMLS:C0005587 Arterial stiffness measurement EFO:0004517 http://www.ebi.ac.uk/efo/EFO_0004517 An Arterial stiffness measurement is the information output of a non invasive pulse wave velocity assay. Arterial stiffness is a predictor of cardiovascular mortality arterial stiffness - Chronic bronchitis MONDO:0005607 http://purl.obolibrary.org/obo/MONDO_0005607 A type of chronic obstructive pulmonary disease characterized by chronic inflammation in the bronchial tree that results in edema, mucus production, obstruction, and reduced airflow to and from the lung alveoli. The most common cause is tobacco smoking. Signs and symptoms include coughing with excessive mucus production, and shortness of breath. bronchitis, chronic EFO:0006505, ICD9:491, ICD9:491.8, ICD9:491.9, MEDGEN:3084, MESH:D029481, NCIT:C26722, SCTID:63480004, UMLS:C0008677, icd11.foundation:290835130 Bronchiectasis MONDO:0004822 http://purl.obolibrary.org/obo/MONDO_0004822 Segmental, irreversible dilation of the bronchial tree resulting in the accumulation of secretions which leads to obstruction. The most common cause is bacterial infection. - DOID:9563, ICD10CM:J47, ICD10WHO:J47, ICD9:494, MEDGEN:14234, MESH:D001987, NANDO:2100036, NANDO:2200206, NCIT:C84475, OMIMPS:211400, SCTID:12295008, UMLS:C0006267, icd11.foundation:1935524933 Lifestyle measurement EFO:0010724 http://www.ebi.ac.uk/efo/EFO_0010724 Quantification of some aspect of a subject's lifestyle. - PMID:32317632 Cough variant asthma MONDO:0001491 http://purl.obolibrary.org/obo/MONDO_0001491 An asthma that is characterized by chronic nonproductive cough without shortness of breath. - DOID:12323, ICD10CM:J45.991, ICD9:493.82, MEDGEN:675053, SCTID:409663006, UMLS:C0694548, icd11.foundation:1466639844 Chest wall lipoma MONDO:0000971 http://purl.obolibrary.org/obo/MONDO_0000971 A benign adipose tissue neoplasm of the chest wall. chest wall lipoma, lipoma of chest wall, lipoma of the chest wall DOID:10200, ICD9:214.8, MEDGEN:234118, NCIT:C6719, SCTID:448270009, UMLS:C1332932 Fracture NCIT:C3046 http://purl.obolibrary.org/obo/NCIT_C3046 A traumatic injury to the bone in which the continuity of the bone is broken. Bone Fracture, Bone Fracture(s), FRACTURE, FRACTURE_SITE, Fracture of Bone, Fracture IMDRF:E1603 Urine potassium amount OBA:2050095 http://purl.obolibrary.org/obo/OBA_2050095 The amount of a potassium atom when measured in urine. urine potassium atom amount - Number of stillbirths EFO:0009722 http://www.ebi.ac.uk/efo/EFO_0009722 A measurement of the total number of birth events at which the fetus is of at least 20 weeks gestation, or of a birth weight of at least 350 grams if the gestational age is unknown, which is born without signs of life at the time of delivery, and with an Apgar score of zero at both one and five minutes. [ NCI ] - NCIt:C139267 Number of induced abortions (observable entity) SNOMED:252114001 http://snomed.info/id/252114001 Number of induced terminations of pregnancy Number of induced abortions, Number of induced abortions (observable entity), Number of induced terminations of pregnancy - Malignant neoplasm of ovary SNOMED:363443007 http://snomed.info/id/363443007 Malignant neoplasm of ovary Cancer of ovary, Malignant neoplasm of ovary, Malignant neoplasm of ovary (disorder), Malignant tumor of ovary, Malignant tumour of ovary, Ovarian cancer - Gestational diabetes MONDO:0005406 http://purl.obolibrary.org/obo/MONDO_0005406 Carbohydrate intolerance first diagnosed during pregnancy. diabetes in pregnancy, gestational diabetes mellitus, maternal gestational diabetes mellitus DOID:11714, EFO:0004593, ICD10CM:O24.4, MEDGEN:38815, MESH:D016640, NCIT:C34942, SCTID:11687002, UMLS:C0085207, icd11.foundation:1320503631 Short of Breath When Hurrying on Level Ground or Walking Up a Slight Hill Question NCIT:C127145 http://purl.obolibrary.org/obo/NCIT_C127145 A question about whether an individual is or was short of breath when hurrying on level ground or walking up a slight hill. Are you short of breath when hurrying on the level or walking up a slight hill, Short of Breath When Hurrying on Level Ground or Walking Up a Slight Hill Question, Short of Breath When Hurrying on Level Ground or Walking Up a Slight Hill - Eye infection EFO:1001888 http://www.ebi.ac.uk/efo/EFO_1001888 An infectious process affecting any part of the eye. Causes include viruses and bacteria. Symptoms include itching and discomfort in the eye, watery eyes, eye pain and discharge, and blurring vision. Representative examples include pink eye, blepharitis, and trachoma. Ocular Infections, eye infections, ocular infection MESH:D015817, MedDRA:10015929, NCIt:C45372, UMLS:C0015403 Surgery on leg artery EFO:0009729 http://www.ebi.ac.uk/efo/EFO_0009729 Surgical intervention performed on leg artery. - - Gingival bleeding HP:0000225 http://purl.obolibrary.org/obo/HP_0000225 Hemorrhage affecting the gingiva. Gingivorrhagia, Bleeding gums, Gingival haemorrhage, Gingival hemorrhage SNOMEDCT_US:86276007, UMLS:C0017565 Viral meningitis MONDO:0007015 http://purl.obolibrary.org/obo/MONDO_0007015 Inflammation of the membranes surrounding the brain and spinal cord due to a viral infection. - DOID:10310, EFO:1001236, GARD:0024518, ICD10CM:A87, ICD10WHO:A87, ICD9:047.8, ICD9:047.9, ICD9:321.2, MEDGEN:44355, MESH:D008587, MedDRA:10047469, NCIT:C118298, SCTID:58170007, UMLS:C0025297 Infectious disease MONDO:0005550 http://purl.obolibrary.org/obo/MONDO_0005550 A disorder directly resulting from the presence and activity of a microbial, viral, or parasitic agent in humans. It can be transmitted by direct or indirect contact. clinical infection, communicable disease, infection, infectious disease, infectious diseases and manifestations, infectious disorder, infectious, transmissible disease DOID:0050117, EFO:0005741, ICD10CM:A00-B99, ICD9:079.0, ICD9:136.8, ICD9:136.9, IDO:0000436, MEDGEN:1057, MESH:D003141, NCIT:C26726, SCTID:40733004, UMLS:C0009450 Hereditary hypophosphatemic rickets MONDO:0000044 http://purl.obolibrary.org/obo/MONDO_0000044 Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium. hereditary hypophosphatemic rickets GARD:0006735, MedDRA:10060873, OMIMPS:193100, Orphanet:437, icd11.foundation:1010293846 Amnesia EFO:1001454 http://www.ebi.ac.uk/efo/EFO_1001454 Pathologic partial or complete loss of the ability to recall past experiences ( AMNESIA, RETROGRADE) or to form new memories ( AMNESIA, ANTEROGRADE). This condition may be of organic or psychologic origin. Organic forms of amnesia are usually associated with dysfunction of the DIENCEPHALON or HIPPOCAMPUS. (From Adams et al., Principles of Neurology, 6th ed, pp426-7) Amnesia-Memory Loss, Amnestic State, Amnestic syndrome DOID:4544, MESH:D000647, MedDRA:10001949 Brain cancer MONDO:0001657 http://purl.obolibrary.org/obo/MONDO_0001657 A primary or metastatic malignant neoplasm affecting the brain. adult brain tumor, adult malignant brain neoplasm, brain neoplasm, malignant primary brain neoplasm, malignant primary brain tumor, malignant tumor of adult brain, tumor of the brain, BT - brain tumour, adult brain tumour, brain cancer, brain neoplasms, malignant, brain tumor, adult, cancer of brain, cancer of the brain, malignant brain neoplasm, malignant brain tumor, malignant neoplasm of brain, malignant neoplasm of the brain, malignant primary brain tumour, malignant tumor of brain, malignant tumor of the brain, malignant tumour of adult brain, malignant tumour of brain, malignant tumour of the brain, neoplasm of unspecified nature of brain, primary brain tumour, tumour of the brain CSP:2006-2736, DOID:1319, GARD:0027584, ICD10CM:C71, ICD9:191, ICD9:191.8, ICD9:191.9, ICD9:239.6, MEDGEN:57796, MESH:D001932, NCIT:C3568, SCTID:428061005, UMLS:C0153633, icd11.foundation:189650925 Malignant colon neoplasm MONDO:0021063 http://purl.obolibrary.org/obo/MONDO_0021063 A primary or metastatic malignant neoplasm that affects the colon. Representative examples include carcinoma, lymphoma, and sarcoma. cancer of colon, colon cancer, colon neoplasm, malignant, colon tumor, malignant, malignant colon neoplasm, malignant colon tumor, malignant colon tumour, malignant colonic neoplasm, malignant colonic tumor, malignant colonic tumour, malignant neoplasm of colon, malignant neoplasm of the colon, malignant tumor of colon, malignant tumor of the colon, malignant tumour of colon, malignant tumour of the colon DOID:219, ICD10CM:C18, ICD9:153, ICD9:153.8, ICD9:153.9, MEDGEN:2839, NCIT:C9242, SCTID:363406005, UMLS:C0007102, icd11.foundation:1265576634 Connective and soft tissue neoplasm MONDO:0044334 http://purl.obolibrary.org/obo/MONDO_0044334 Editor note: we follow NCIT in making this a grouping of all soft tissue and connective tissue neoplasms, including bone connective and soft tissue neoplasm, connective and soft tissue tumor, connective and soft tissue tumour, musculoskeletal and soft tissue neoplasm, musculoskeletal and soft tissue tumor, musculoskeletal and soft tissue tumour, neoplasm of skeletal and soft tissue, neoplasm of soft tissue and bone, neoplasm of soft tissue and skeleton, skeletal and soft tissue neoplasm, skeletal and soft tissue tumor, skeletal and soft tissue tumour, soft tissue and bone neoplasm, soft tissue and bone tumor, soft tissue and bone tumour, tumor of skeletal and soft tissue, tumor of soft tissue and bone, tumor of soft tissue and skeleton, tumour of skeletal and soft tissue, tumour of soft tissue and bone, tumour of soft tissue and skeleton MEDGEN:60224, NCIT:C3810, UMLS:C0206765 Uterine corpus cancer MONDO:0006003 http://purl.obolibrary.org/obo/MONDO_0006003 Editor note: NCIT has terms for both UC malignant neoplasm (NCIT:C3556) and cancer. uterine (including endometrial) cancer, body of uterus cancer, cancer of body of uterus, cancer of the corpus uteri, corpus uteri cancer, malignant body of uterus neoplasm, malignant neoplasm of body of uterus, uterine corpus cancer DOID:9460, EFO:0007532, ICD9:182, NCIT:C61574, SCTID:371972005 Enterocolitis MONDO:0009172 http://purl.obolibrary.org/obo/MONDO_0009172 An inflammatory process affecting the small intestine and colon. Causes include viruses, bacteria, radiation, and antibiotics use. enterocolitis (disease), enterocolitis EFO:1001481, HP:0004387, ICD9:558.9, MEDGEN:4966, MESH:D004760, NCIT:C79573, OMIM:226150, SCTID:43752006, UMLS:C0014356 Liver and intrahepatic bile duct neoplasm MONDO:0024477 http://purl.obolibrary.org/obo/MONDO_0024477 A benign or malignant neoplasm that affects the liver parenchyma or intrahepatic bile ducts. Representative examples of benign neoplasms include hepatocellular adenoma, and bile duct adenoma. Representative examples of malignant neoplasms include hepatocellular carcinoma, intrahepatic cholangiocarcinoma, and lymphoma. epithelial hepatic and intrahepatic bile duct neoplasm, hepatic and intrahepatic bile duct neoplasm, liver and intrahepatic bile duct epithelial neoplasm, liver and intrahepatic bile duct neoplasm, liver neoplasm (disease), liver neoplasm, liver tumor, liver tumour, neoplasm of liver, tumor of liver, tumour of liver DOID:916, MEDGEN:232599, NCIT:C7103, NCIT:C7106, ONCOTREE:LIVER, SCTID:126851005, UMLS:C1333976 Lymphatic system cancer MONDO:0000612 http://purl.obolibrary.org/obo/MONDO_0000612 A malignant neoplasm involving the lymphatic part of lymphoid system cancer of lymphatic part of lymphoid system, lymphatic part of lymphoid system cancer, malignant lymphatic part of lymphoid system neoplasm, malignant neoplasm of lymphatic part of lymphoid system DOID:0060073 Mesothelioma MONDO:0005065 http://purl.obolibrary.org/obo/MONDO_0005065 A usually malignant and aggressive neoplasm of the mesothelium which is often associated with exposure to asbestos. mesothelioma EFO:0000588, ICD10CM:C45, MEDGEN:9975, MESH:D008654, NCIT:C3234, UMLS:C0025500 Gastric cancer MONDO:0001056 http://purl.obolibrary.org/obo/MONDO_0001056 A primary or metastatic malignant neoplasm involving the stomach. Ca body - stomach, Ca lesser curvature - stomach, ca greater curvature of stomach, gastric cancer risk after h. pylori infection, gastric cancer, somatic, gastric neoplasm, malignant neoplasm of body of stomach, malignant neoplasm of lesser curve of stomach, malignant tumor of body of stomach, malignant tumor of greater curve of stomach, malignant tumor of lesser curve of stomach, GC, cancer of stomach, gastric cancer, malignant gastric neoplasm, malignant gastric tumor, malignant gastric tumour, malignant neoplasm of stomach, malignant neoplasm of the stomach, malignant stomach neoplasm, malignant tumor of stomach, malignant tumor of the stomach, malignant tumour of body of stomach, malignant tumour of greater curve of stomach, malignant tumour of lesser curve of stomach, malignant tumour of stomach, malignant tumour of the stomach, stomach cancer DOID:10534, GARD:0007704, ICD10CM:C16, ICD9:151, ICD9:151.4, ICD9:151.5, ICD9:151.6, ICD9:151.9, MEDGEN:44264, NCIT:C9331, OMIM:613659, UMLS:C0024623, icd11.foundation:1397617262 Endocrine gland neoplasm MONDO:0002082 http://purl.obolibrary.org/obo/MONDO_0002082 A benign or malignant neoplasm arising from the epithelial cells of an endocrine organ. Representative examples include pituitary gland adenoma, pituitary gland carcinoma, thyroid gland carcinoma, carcinoid tumor, and neuroendocrine carcinoma. malignant endocrine tumor, endocrine gland neoplasm (disease), endocrine gland tumor, endocrine gland tumour, endocrine neoplasm, endocrine system neoplasm, endocrine system tumor, endocrine system tumour, endocrine tumor, endocrine tumour, malignant endocrine tumour, neoplasm of endocrine gland, tumor of endocrine gland, tumour of endocrine gland EFO:0003769, ICD9:239.7, MEDGEN:4044, NCIT:C3010, SCTID:387922007, UMLS:C0014132 Soft tissue neoplasm MONDO:0006424 http://purl.obolibrary.org/obo/MONDO_0006424 A benign, intermediate, or malignant neoplasm that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms. SOFT_TISSUE, neoplasm of soft tissue, neoplasm of the soft tissue, soft tissue neoplasm, soft tissue tumor, soft tissue tumors, soft tissue tumour, soft tissue tumours, tumor of soft tissue, tumor of the soft tissue, tumour of soft tissue, tumour of the soft tissue EFO:1000541, MEDGEN:11495, NCIT:C3377, ONCOTREE:SOFT_TISSUE, SCTID:387837005, UMLS:C0037579 Secondary malignant neoplasm MONDO:0024881 http://purl.obolibrary.org/obo/MONDO_0024881 Note that we currently treat secondary neoplasms as being neoplastic diseases that are derived from neoplasm; classes such as 'neoplasm', 'carcinoma' are implicitly primary. This may change in future. secondary cancer, secondary malignancy, secondary malignant neoplasm EFO:0009812, ICD9:198.89, ICD9:199.1, MEDGEN:473807, NCIT:C4968, SCTID:128462008, UMLS:C3266877 Retroperitoneal cancer MONDO:0005941 http://purl.obolibrary.org/obo/MONDO_0005941 A primary or metastatic malignant neoplasm involving the retroperitoneum. The vast majority of cases are carcinomas, lymphomas, or sarcomas. neoplasm of retroperitoneum, neoplasm of the retroperitoneum, retroperitoneal neoplasm, retroperitoneal space cancer, tumor of retroperitoneum, cancer of retroperitoneal space, malignant neoplasm of retroperitoneal space, malignant neoplasm of retroperitoneum and peritoneum, malignant neoplasm of retroperitoneum, malignant retroperitoneal neoplasm, malignant retroperitoneal space neoplasm, malignant tumour of peritoneum and retroperitoneum, tumour of retroperitoneum DOID:5875, EFO:0007466, ICD9:158, ICD9:158.0, MEDGEN:57559, MESH:D012186, NCIT:C3537, SCTID:126872008, UMLS:C0153465, icd11.foundation:1731312506 Non-Hodgkin's lymphoma MONDO:0018908 http://purl.obolibrary.org/obo/MONDO_0018908 Distinct from Hodgkin lymphoma both morphologically and biologically, non-Hodgkin lymphoma (NHL) is characterized by the absence of Reed-Sternberg cells, can occur at any age, and usually presents as a localized or generalized lymphadenopathy associated with fever and weight loss. The clinical course varies according to the morphologic type. NHL is clinically classified as indolent, aggressive, or having a variable clinical course. NHL can be of B-or T-/NK-cell lineage. NHL, non-Hodgkin lymphoma, non-Hodgkin's lymphoma (NHL), non-Hodgkin's lymphoma, non-Hodgkins lymphoma DOID:0060060, EFO:0005952, ICDO:9591/3, MEDGEN:6160, MESH:D008228, MedDRA:10029547, NCIT:C3211, ONCOTREE:NHL, Orphanet:547, UMLS:C0024305 Enteritis MONDO:0043579 http://purl.obolibrary.org/obo/MONDO_0043579 Inflammation of the small intestine. enteritis of small intestine, inflammation of small intestine, Enteritides, enteritis, small intestine inflammation MEDGEN:4964, MESH:D004751, NCIT:C26765, SCTID:64613007, UMLS:C0014335 Small bowel Crohn disease MONDO:0005539 http://purl.obolibrary.org/obo/MONDO_0005539 A Crohn disease involving a pathogenic inflammatory response in the small intestine. small bowel Crohn's disease EFO:0005629, MEDGEN:57617, NANDO:1200445, UMLS:C0156146 Breast carcinoma in situ MONDO:0004658 http://purl.obolibrary.org/obo/MONDO_0004658 A in situ carcinoma that involves the breast. stage 0 breast carcinoma in situ, breast cancer in situ, breast cancer stage 0, breast carcinoma in situ, breast in situ carcinoma, carcinoma in situ of breast, carcinoma in situ of the breast, in situ breast cancer, non-infiltrating breast carcinoma, non-infiltrating carcinoma of breast, non-infiltrating carcinoma of the breast, non-invasive breast carcinoma, non-invasive carcinoma of breast, non-invasive carcinoma of the breast, stage 0 breast cancer aJCC v6 and v7, stage 0 breast cancer aJCC v6, stage 0 breast cancer aJCC v7, stage 0 breast cancer, stage 0 breast carcinoma, stage 0 carcinoma of breast, stage 0 carcinoma of the breast DOID:8791, ICD10CM:D05, ICD9:233.0, MEDGEN:57817, MESH:D000071960, NCIT:C3641, SCTID:189336000, UMLS:C0154084, icd11.foundation:1264360394 In situ carcinoma MONDO:0004647 http://purl.obolibrary.org/obo/MONDO_0004647 Editor note: check pre-malignant vs malignant stage 0 disease, CIS, carcinoma in situ, carcinoma, in situ, malignant, epithelial tumor, in situ, malignant, intraepithelial carcinoma, non-invasive carcinoma DOID:8719, ICD9:230-234, ICD9:234.8, ICD9:234.9, ICDO:8010/2, MEDGEN:763, MESH:D002278, NCIT:C2917, SCTID:109355002, UMLS:C0007099 Benign digestive system neoplasm MONDO:0000385 http://purl.obolibrary.org/obo/MONDO_0000385 A non-metastasizing neoplasm arising from any part of the digestive system. alimentary part of gastrointestinal system benign neoplasm, benign GI neoplasm, benign GI system neoplasm, benign GI system tumor, benign GI system tumour, benign GI tumor, benign GI tumour, benign digestive system tumor, benign digestive system tumour, benign gastrointestinal neoplasm, benign gastrointestinal system tumor, benign gastrointestinal system tumour, benign gastrointestinal tumor, benign gastrointestinal tumour, benign neoplasm of digestive system, benign neoplasm of gastrointestinal system, benign neoplasm of the digestive system, benign tumor of GI system, benign tumor of digestive system, benign tumor of gastrointestinal system, benign tumor of the GI system, benign tumor of the digestive system, benign tumor of the gastrointestinal system, benign tumour of GI system, benign tumour of digestive system, benign tumour of gastrointestinal system, benign tumour of the GI system, benign tumour of the digestive system, benign tumour of the gastrointestinal system DOID:0050624, MEDGEN:141680, NCIT:C4787, UMLS:C0497538 Bone benign neoplasm MONDO:0000631 http://purl.obolibrary.org/obo/MONDO_0000631 A neoplasm that arises from the bone or articular cartilage and does not invade adjacent tissues or metastasize to other anatomic sites. benign bone neoplasm, benign bone tumor, benign bone tumour, benign neoplasm of bone, benign neoplasm of the bone, benign osseous neoplasm, benign osseous tumor, benign osseous tumour, benign tumor of bone, benign tumor of the bone, benign tumour of bone, benign tumour of the bone, bone tissue benign neoplasm DOID:0060094, GARD:0022813, ICD9:213.9, MEDGEN:146337, NCIT:C4880, SCTID:92027006, UMLS:C0684516 Benign lipomatous neoplasm MONDO:0044983 http://purl.obolibrary.org/obo/MONDO_0044983 A benign mesenchymal neoplasm composed of adipose (fatty) tissue. The most common representative of this category is the lipoma. adipose tissue benign connective and soft tissue neoplasm, benign adipose tissue neoplasm, benign adipose tissue tumor, benign adipose tissue tumour, benign connective and soft tissue neoplasm of adipose tissue, benign lipomatous neoplasm, benign lipomatous tumor, benign lipomatous tumour, benign neoplasm of adipose tissue, benign neoplasm of the adipose tissue, benign tumor of the adipose tissue, benign tumour of adipose tissue, benign tumour of the adipose tissue ICD10CM:D17, ICD10WHO:D17, MEDGEN:91084, NCIT:C4502, UMLS:C0346118, icd11.foundation:226447034 Benign connective and soft tissue neoplasm MONDO:0000654 http://purl.obolibrary.org/obo/MONDO_0000654 A non-metastasizing neoplasm that arises from the connective and soft tissue. Representative examples include lipoma, leiomyoma, fibroma, and osteoma. benign connective and soft tissue neoplasm, benign connective and soft tissue tumor, benign connective and soft tissue tumour, benign mesenchymal cell neoplasm, benign neoplasm of the soft tissue and bone, benign tumor of the soft tissue and bone, benign tumour of the soft tissue and bone, connective and soft tissue neoplasm, benign, connective tissue benign neoplasm, tumour of the soft tissue DOID:0060123, MEDGEN:83866, NCIT:C53684, UMLS:C0347481 Melanocytic nevus MONDO:0005073 http://purl.obolibrary.org/obo/MONDO_0005073 This term is scheduled for obsoletion based on the fact that it is a not a disease. After obsoletion, this term will not have a replacement ID, but one could consider the following term: - mole of skin, melanocytic Nevus, melanotic Nevus, mole, nevus EFO:0009675, MEDGEN:14364, MESH:D009506, NCIT:C7570, SCTID:400096001, UMLS:C0027962, Wikipedia:Nevus Benign neoplasm of meninges MONDO:0021527 http://purl.obolibrary.org/obo/MONDO_0021527 A benign neoplasm that involves the meningeal cluster. benign meningeal neoplasm, benign meningeal neoplasms, benign meningeal tumor, benign meningeal tumors, benign meninges neoplasm, benign meninges tumor, benign neoplasm of the meninges, benign neoplasms of meninges, benign neoplasms of the meninges, benign tumor of meninges, benign tumor of the meninges, meningeal tumors, benign, benign meningeal tumour, benign meningeal tumours, benign meninges tumour, benign tumour of meninges, benign tumour of the meninges, meningeal cluster benign neoplasm GARD:0025330, ICD10CM:D32, ICD10WHO:D32, MEDGEN:138093, NCIT:C4957, SCTID:109913001, UMLS:C0348426 Benign thyroid gland neoplasm MONDO:0006107 http://purl.obolibrary.org/obo/MONDO_0006107 A benign neoplasm arising from the thyroid gland. benign neoplasm of the thyroid gland, benign neoplasm of the thyroid, benign neoplasm of thyroid gland, benign neoplasm of thyroid glands, benign neoplasm of thyroid, benign thyroid gland neoplasm, benign thyroid gland tumor, benign thyroid gland tumour, benign thyroid neoplasm, benign thyroid tumor, benign thyroid tumour, benign tumor of the thyroid gland, benign tumor of the thyroid, benign tumor of thyroid gland, benign tumor of thyroid, benign tumour of the thyroid gland, benign tumour of the thyroid, benign tumour of thyroid gland, benign tumour of thyroid, thyroid gland benign neoplasm, thyroid neoplasm, benign EFO:1000122, GARD:0024295, ICD10CM:D34, ICD9:226, MEDGEN:102306, NCIT:C3628, SCTID:92439006, UMLS:C0154038 Acquired polycythemia vera MONDO:0009891 http://purl.obolibrary.org/obo/MONDO_0009891 Polycythemia vera (PV) is an acquired myeloproliferative disorder characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production, frequently associated with uncontrolled white blood cell and platelet production. polycythemia vera, somatic, Osler-Vaquez disease, PRV, PV, Vaquez disease, acquired primary erythrocytosis, polycythaemia rubra vera, polycythemia rubra vera, polycythemia vera, primary polycythemia DOID:8997, EFO:0002429, GARD:0007422, ICD10CM:D45, ICD9:238.4, ICDO:9950/3, MEDGEN:45996, MESH:D011087, MedDRA:10036057, NANDO:2100186, NANDO:2200643, NCIT:C3336, OMIM:263300, ONCOTREE:PV, Orphanet:729, UMLS:C0032463, icd11.foundation:818364947 Hypoglycemia MONDO:0004946 http://purl.obolibrary.org/obo/MONDO_0004946 Abnormally low level of glucose in the blood. blood glucose, Low, glucose, Low blood, low blood glucose DOID:9993, ICD9:251.1, ICD9:251.2, MEDGEN:6979, MESH:D007003, NCIT:C3126, SCTID:302866003, UMLS:C0020615 Pituitary gland disorder MONDO:0003381 http://purl.obolibrary.org/obo/MONDO_0003381 A disease involving the pituitary gland. disease or disorder of pituitary gland, disease of pituitary gland, disorder of pituitary gland, pituitary gland disease or disorder, pituitary gland disease, pituitary gland disorder DOID:53, EFO:0009607, ICD9:253.1, ICD9:253.8, ICD9:253.9, MEDGEN:45934, MESH:D010900, NCIT:C26854, SCTID:399244003, UMLS:C0032002 Obesity HP:0001513 http://purl.obolibrary.org/obo/HP_0001513 Accumulation of substantial excess body fat. Having too much body fat, Obesity SNOMEDCT_US:414915002, SNOMEDCT_US:414916001, UMLS:C0028754 Panic disorder MONDO:0005383 http://purl.obolibrary.org/obo/MONDO_0005383 An anxiety disorder characterized by multiple unexpected panic attacks with persistent concern of recurring attacks. Panic disorder may or may not be accompanied by agoraphobia. - DOID:594, EFO:0004262, ICD10CM:F41.0, ICD9:300.01, MEDGEN:14588, MESH:D016584, NCIT:C34890, SCTID:371631005, UMLS:C0030319, icd11.foundation:56162827 Spinal muscular atrophy MONDO:0001516 http://purl.obolibrary.org/obo/MONDO_0001516 A motor neuron disease that affect the muscles, and characterized by muscle weakness and atrophy resulting from progressive degeneration and irreversible loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. The severity of the condition; the associated signs and symptoms; and the age at which symptoms develop varies by subtype. In general, people with spinal muscular atrophy (SMA) experience progressive weakness and atrophy of muscles involved in mobility, the ability to sit unassisted, and head control. Breathing and swallowing may also be affected in severe cases. SMA is generally caused by changes (mutations) in the SMN1 gene and is inherited in an autosomal recessive manner. Extra copies of the SMN2 gene modify the severity of SMA. Rare autosomal dominant (caused by mutations in DYNC1H1, BICD2, or VAPB genes) and X-linked (caused by mutations in UBA1) forms of SMA exist. Treatment is based on the signs and symptoms present in each person. - DOID:12377, EFO:0008525, GARD:0007674, ICD9:335.1, ICD9:335.10, ICD9:335.19, MEDGEN:7755, MESH:D009134, NANDO:1200003, NANDO:2100231, NANDO:2200853, NCIT:C85075, OMIMPS:253300, SCTID:5262007, UMLS:C0026847, icd11.foundation:71074342 Dermatitis MONDO:0002406 http://purl.obolibrary.org/obo/MONDO_0002406 An inflammatory process affecting the skin. Signs include red rash, itching, and blister formation. Representative examples are contact dermatitis, atopic dermatitis, and seborrheic dermatitis. inflammation of zone of skin, inflammation of skin, inflammation of the skin, inflammatory skin disease, skin inflammation, zone of skin inflammation DOID:2723, ICD9:692.9, MEDGEN:849741, MESH:D003872, NCIT:C2983, SCTID:43116000, UMLS:C3875321 Migraine disorder MONDO:0005277 http://purl.obolibrary.org/obo/MONDO_0005277 A common, severe type of vascular headache often associated with increased sympathetic activity, resulting in nausea, vomiting, and light sensitivity. migraine headache, migraine DOID:6364, ICD10CM:G43, ICD9:346, ICD9:346.9, MEDGEN:57451, MESH:D008881, NCIT:C89715, UMLS:C0149931, icd11.foundation:669367341 Headache disorder MONDO:0021146 http://purl.obolibrary.org/obo/MONDO_0021146 Various conditions with the symptom of headache. Headache disorders are classified into major groups, such as primary headache disorders (based on characteristics of their headache symptoms) and secondary headache disorders (based on their etiologies). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1) cephalgia syndrome, cephalgia syndromes, chronic daily headache, chronic daily headaches, chronic headache, chronic headaches, daily headache, chronic, daily headaches, chronic, headache disorder, headache syndrome, headache syndromes, headache, chronic daily, headache, chronic, headache, intractable, headaches, chronic daily, headaches, chronic, headaches, intractable, intractable headache, intractable headaches, syndrome, headache EFO:0009550, MEDGEN:140743, MESH:D020773, SCTID:230461009, UMLS:C0393735 Brain injury MONDO:0043510 http://purl.obolibrary.org/obo/MONDO_0043510 Acute and chronic (see also brain INJURIES, CHRONIC) injuries to the brain, including the cerebral hemispheres, CEREBELLUM, and brain STEM. Clinical manifestations depend on the nature of injury. Diffuse trauma to the brain is frequently associated with DIFFUSE AXONAL INJURY or COMA, POST-TRAUMATIC. Localized injuries may be associated with NEUROBEHAVIORAL MANIFESTATIONS; HEMIPARESIS, or other focal neurologic deficits. injury of brain, brain Traumas, brain injury, brain trauma MESH:D001930 Plantar nerve lesion MONDO:0001541 http://purl.obolibrary.org/obo/MONDO_0001541 A peripheral nerve lesion that involves the plantar nerve. peripheral nerve lesion of plantar nerve, lesion of plantar nerve, plantar nerve peripheral nerve lesion DOID:12524, GARD:0022963, ICD10CM:G57.6, ICD9:355.6, MEDGEN:509644, SCTID:193148004, UMLS:C0154752 Extrapyramidal and movement disorders MONDO:0001815 http://purl.obolibrary.org/obo/MONDO_0001815 - - DOID:13839, ICD10CM:G20-G26, ICD9:333.90, MEDGEN:852565, UMLS:C0477355 Glomerulonephritis MONDO:0002462 http://purl.obolibrary.org/obo/MONDO_0002462 A renal disorder characterized by damage in the glomeruli. It may be acute or chronic, focal or diffuse, and it may lead to renal failure. Causes include autoimmune disorders, infections, diabetes, and malignancies. bright's disease, glomerular nephritis, glomerulonephritis (disease), glomerulonephritis, nephritis of renal glomerulus, renal glomerulus nephritis DOID:2921, GARD:0006516, HP:0000099, ICD9:583.9, MEDGEN:6616, MESH:D005921, NCIT:C26784, SCTID:36171008, UMLS:C0017658 Lacrimal passage granuloma MONDO:0000957 http://purl.obolibrary.org/obo/MONDO_0000957 - granuloma of lacrimal passages DOID:10174, ICD10CM:H04.81, ICD9:375.81, MEDGEN:509875, SCTID:417563003, UMLS:C0155253 Disorder of orbital region MONDO:0002022 http://purl.obolibrary.org/obo/MONDO_0002022 A disease that involves the orbital region. disease or disorder of orbital region, disorder of eye region, disease of orbital region, disorder of orbital region, orbital region disease or disorder, orbital region disease DOID:1492, ICD10CM:H00-H59, ICD9:362.10, MEDGEN:1863347, SCTID:371409005, UMLS:C5886742 Cataract MONDO:0005129 http://purl.obolibrary.org/obo/MONDO_0005129 Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.) opacity of the lens, cataract (disease), cataract DOID:83, HP:0000518, ICD9:366, ICD9:366.44, ICD9:366.8, ICD9:366.9, MEDGEN:39462, MESH:D002386, NCIT:C26713, OMIMPS:116200, SCTID:193570009, UMLS:C0086543, icd11.foundation:109841337 External ear disorder MONDO:0002776 http://purl.obolibrary.org/obo/MONDO_0002776 A disease involving the external ear. disease or disorder of external ear, disease of external ear, disorder of external ear, external ear disease or disorder, external ear disease, external ear disorder, preauricular cyst (disorder), preauricular cyst, preauricular sinus and fistula (disorder), preauricular sinus or fistula NOS (disorder), preauricular sinus or fistula DOID:379, EFO:0009668, ICD10CM:H60-H62, ICD9:380, ICD9:380.9, ICD9:744.47, MEDGEN:57606, NCIT:C26972, SCTID:49130001, UMLS:C0155388 Eustachian tube disorder MONDO:0004866 http://purl.obolibrary.org/obo/MONDO_0004866 A disease involving the pharyngotympanic tube. disease or disorder of pharyngotympanic tube, eustachian tube disorder, disease of pharyngotympanic tube, disorder of pharyngotympanic tube, pharyngotympanic tube disease or disorder, pharyngotympanic tube disease DOID:9739, EFO:0009667, ICD10CM:H68, ICD9:381.8, ICD9:381.89, ICD9:381.9, MEDGEN:543364, SCTID:69494008, UMLS:C0271468 Strabismus HP:0000486 http://purl.obolibrary.org/obo/HP_0000486 A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. Cross-eyed, Squint eyes, Squint SNOMEDCT_US:128602000, SNOMEDCT_US:22066006, UMLS:C0038379 Lacrimal apparatus disorder MONDO:0001854 http://purl.obolibrary.org/obo/MONDO_0001854 A non-neoplastic or neoplastic disorder that affects the lacrimal apparatus. disease or disorder of lacrimal apparatus, disease of lacrimal apparatus, disorder of lacrimal apparatus, disorder of lacrimal system, lacrimal apparatus disease or disorder, lacrimal apparatus disease, lacrimal system disease, lacrimal system disorder DOID:1400, EFO:0009455, ICD9:375, ICD9:375.69, ICD9:375.89, ICD9:375.9, MEDGEN:5994, MESH:D007766, NCIT:C26809, SCTID:31053003, UMLS:C0022904 Retinal detachment MONDO:0008375 http://purl.obolibrary.org/obo/MONDO_0008375 An eye emergency condition which may lead to blindness if left untreated. It is characterized by the separation of the inner retina layers from the underlying pigment epithelium. Causes include trauma, advanced diabetes mellitus, high myopia, and choroid tumors. Symptoms include sudden appearance of floaters, sudden light flushes, and blurred vision. detached retina, retina, detached, retinal detachment DOID:5327, EFO:0005773, ICD9:361.89, ICD9:361.9, ICD9:362.40, MEDGEN:19759, MESH:D012163, NCIT:C26874, OMIM:180050, OMIM:312530, SCTID:42059000, UMLS:C0035305 Vitreous haemorrhage EFO:0008626 http://www.ebi.ac.uk/efo/EFO_0008626 Blood extravasation in the vitreous humor. Causes include neovascularization, retinal tear, retinal detachment, and rupture of a blood vessel aneurysm in the eye. [ NCI ] Blood In Vitreous Fluid,, Blood In Vitreous, Vitreous Fluid, Blood In, Vitreous Hemorrhage Fluid, vitreous body hemorrhage HP:0007902, ICD10:H43.1, MESH:D014823, MP:0006202, MedDRA:10047656, NCIt:C50469 Eyelid disorder MONDO:0003382 http://purl.obolibrary.org/obo/MONDO_0003382 A disease involving the eyelid. disease or disorder of eyelid, disease of eyelid, disorder of eyelid, eyelid disease or disorder, eyelid disease, eyelid disorder DOID:530, EFO:0009547, ICD10CM:H00, ICD9:374.89, ICD9:374.9, MEDGEN:41938, MESH:D005141, NCIT:C26768, SCTID:60113004, UMLS:C0015423 Vestibular disorder MONDO:0002643 http://purl.obolibrary.org/obo/MONDO_0002643 Pathological processes of the vestibular labyrinth which contains part of the balancing apparatus. Patients with vestibular diseases show instability and are at risk of frequent falls. disease or disorder of vestibular labyrinth, disease of vestibular labyrinth, disease of vestibular system, disorder of vestibular labyrinth, disorder of vestibular system, vestibular labyrinth disease or disorder, vestibular labyrinth disease, vestibular system disease DOID:3426, EFO:0009691, MEDGEN:12079, MESH:D015837, UMLS:C0042594 Hypertensive disorder MONDO:0005044 http://purl.obolibrary.org/obo/MONDO_0005044 Persistently high systemic arterial blood pressure. Based on multiple readings (blood pressure determination), hypertension is currently defined as when systolic pressure is consistently greater than 140 mm Hg or when diastolic pressure is consistently 90 mm Hg or more. blood pressure, high, blood pressure, increased, increased blood pressure, pressure, high blood, HTN, high blood pressure, hypertensive disease, vascular hypertensive disorder DOID:10763, EFO:0000537, HP:0000822, ICD10CM:I10-I16, ICD10CM:I15, ICD9:401-405, ICD9:997.91, MEDGEN:6969, MESH:D006973, NCIT:C3117, SCTID:38341003, UMLS:C0020538 Acute myocardial infarction MONDO:0004781 http://purl.obolibrary.org/obo/MONDO_0004781 Necrosis of the myocardium, as a result of interruption of the blood supply to the area. It is characterized by a severe and rapid onset of symptoms that may include chest pain, often radiating to the left arm and left side of the neck, dyspnea, sweating, and palpitations. acute myocardial infarction (disease), myocardial infarction (disease), acute DOID:9408, EFO:0008583, ICD10CM:I21.9, ICD10WHO:I21, ICD9:410, ICD9:410.80, ICD9:410.81, ICD9:410.82, ICD9:410.9, ICD9:410.90, ICD9:410.91, ICD9:410.92, MEDGEN:57611, NCIT:C35204, SCTID:57054005, UMLS:C0155626, icd11.foundation:1334938734 Pericardium disorder MONDO:0000474 http://purl.obolibrary.org/obo/MONDO_0000474 A disease involving the pericardium. disease or disorder of pericardium, disease of pericardium, disorder of pericardium, pericardium disease or disorder, pericardium disease DOID:0050829, ICD9:423.8, ICD9:423.9, MEDGEN:539093, SCTID:55855009, UMLS:C0265122 Subacute bacterial endocarditis MONDO:0006981 http://purl.obolibrary.org/obo/MONDO_0006981 Subacute inflammation of the endocardium. Streptococcus viridans is the usual etiologic agent of subacute bacterial endocarditis. The distinction between acute and subacute endocarditis has traditionally been made based on the pathogenic organism and clinical presentation. SBE, Subacute bacterial endocarditis DOID:4562, EFO:1001193, GARD:0024510, MEDGEN:41780, MESH:D004698, MedDRA:10042271, NCIT:C34583, SCTID:73774007, UMLS:C0014122, icd11.foundation:933942548 Ventricular fibrillation MONDO:0000190 http://purl.obolibrary.org/obo/MONDO_0000190 A disorder characterized by an electrocardiographic finding of a rapid grossly irregular ventricular rhythm with marked variability in QRS cycle length, morphology, and amplitude. The rate is typically greater than 300 bpm. (CDISC) fibrillation, ventricular, VF, VFib, ventricular fibrillation (disease), ventricular fibrillation EFO:0004287, HP:0001663, ICD10CM:I49.01, ICD9:427.41, MEDGEN:21844, MESH:D014693, NANDO:2100052, NANDO:2200227, NCIT:C50799, SCTID:71908006, UMLS:C0042510, icd11.foundation:1662472992 Aneurysm EFO:0009659 http://www.ebi.ac.uk/efo/EFO_0009659 Bulging or ballooning in an area of an artery secondary to arterial wall weakening. [ NCI ] - ICD10:I72, MedDRA:10002329, NCIt:C26693 Peripheral vascular diseases MONDO:0005294 http://purl.obolibrary.org/obo/MONDO_0005294 Any disorder affecting blood flow through the veins or arteries outside of the heart. disease, peripheral vascular, vascular disease, peripheral, peripheral vascular disorder DOID:341, EFO:0003875, ICD9:443.81, MEDGEN:38790, MESH:D016491, NCIT:C35136, UMLS:C0085096, icd11.foundation:426429380 Capillary disease DOID:1271 http://purl.obolibrary.org/obo/DOID_1271 A vascular disease that is located_in the capillaries. disease of capillaries ICD10CM:I78, ICD9CM:448, NCI:C197892, SNOMEDCT_US_2025_09_01:58729003, UMLS_CUI:C0155765 Esophageal varices MONDO:0001221 http://purl.obolibrary.org/obo/MONDO_0001221 Abnormally dilated veins of the esophagus. bleeding esophageal varices, bleeding oesophageal varices, esophageal varices, esophageal varix, esophagus varicose disease, oesophagus varicose disease, varicose disease of esophagus, varicose disease of oesophagus DOID:112, EFO:0009545, ICD10CM:I85, ICD10CM:I85.0, ICD9:456.2, ICD9:456.20, MEDGEN:5027, MESH:D004932, NCIT:C53506, SCTID:28670008, UMLS:C0014867 Dental caries MONDO:0005276 http://purl.obolibrary.org/obo/MONDO_0005276 The decay of a tooth, in which it becomes softened, discolored, and/or porous. - DOID:216, EFO:0003819, ICD10CM:K02, ICD10WHO:K02, ICD9:521.0, ICD9:521.00, ICD9:521.06, ICD9:521.07, MEDGEN:8288, MESH:D003731, SCTID:80967001, UMLS:C0011334, icd11.foundation:1983306720 Periapical tissue disease EFO:0010688 http://www.ebi.ac.uk/efo/EFO_0010688 Any disease of the periapical tissue. disease of periapical tissue, disease, periapical tissue, disorder of periapical tissue, disorder, periapical tissue, periapical tissue condition, periapical tissue disorder MESH:D010483, SNOMEDCT: 266417001 Disorder of appendix MONDO:0056798 http://purl.obolibrary.org/obo/MONDO_0056798 A disease or disorder that involves the vermiform appendix. appendiceal disease, disease of appendix, disease or disorder of vermiform appendix, disorder of appendix, vermiform appendix disease, disease of vermiform appendix, disorder of vermiform appendix, vermiform appendix disease or disorder ICD9:543.9, DOID:60000, EFO:0009542, ICD10CM:K35-K38, MEDGEN:540821, SCTID:18526009, UMLS:C0267613 Peptic ulcer disease MONDO:0004247 http://purl.obolibrary.org/obo/MONDO_0004247 A digestive system disease characterized by discontinuation in the inner lining of the gastrointestinal (GI) tract because of gastric acid secretion or pepsin. acute peptic ulcer with haemorrhage and perforation, acute peptic ulcer with haemorrhage, acute peptic ulcer without haemorrhage and without perforation, peptic ulcer DOID:750, ICD9:533, MEDGEN:45384, MESH:D010437, NCIT:C3318, SCTID:13200003, UMLS:C0030920 Stomatitis MONDO:0004842 http://purl.obolibrary.org/obo/MONDO_0004842 Inflammation of the oral mucosa due to local or systemic factors. inflammation of mouth mucosa, mucositis oral, mouth mucosa inflammation, oral mucositis DOID:9637, EFO:0009688, ICD9:528.0, ICD9:528.00, MEDGEN:52511, MESH:D013280, NCIT:C26887, SCTID:61170000, UMLS:C0038362 Tongue disorder MONDO:0001165 http://purl.obolibrary.org/obo/MONDO_0001165 A disease involving the tongue. disease or disorder of tongue, disease of tongue, disorder of tongue, tongue disease or disorder, tongue disease DOID:10944, ICD9:529.8, ICD9:529.9, MEDGEN:52777, MESH:D014060, NCIT:C173793, SCTID:69244009, UMLS:C0040409, icd11.foundation:928435705 Esophageal disorder MONDO:0003749 http://purl.obolibrary.org/obo/MONDO_0003749 A non-neoplastic or neoplastic disorder that affects the esophagus. Representative examples of non-neoplastic disorders include esophagitis and esophageal ulcer. Representative examples of neoplastic disorders include carcinomas, lymphomas, and melanomas. disease or disorder of esophagus, esophageal ulcer, disease of esophagus, disease of oesophagus, disease or disorder of oesophagus, disorder of esophagus, disorder of oesophagus, esophageal disorder, esophagus disease or disorder, esophagus disease, oesophagus disease or disorder, oesophagus disease DOID:6050, EFO:0009544, ICD9:530, ICD9:530.2, ICD9:530.20, ICD9:530.9, MEDGEN:8693, MESH:D004935, NCIT:C3027, SCTID:30811009, SCTID:37657006, UMLS:C0014852, icd11.foundation:1594312948 Ventral hernia EFO:1001866 http://www.ebi.ac.uk/efo/EFO_1001866 A hernia caused by weakness of the anterior ABDOMINAL WALL due to midline defects, previous incisions, or increased intra-abdominal pressure. Ventral hernias include UMBILICAL HERNIA, incisional, epigastric, and spigelian hernias. Hernia, Ventral, hernia of anterior abdominal wall ICD10:K43, MESH:D006555, MedDRA:10047272, NCIt:C118313, SNOMEDCT:414396006 Rectal abscess HP:0005224 http://purl.obolibrary.org/obo/HP_0005224 A collection of pus in the area of the rectum. Perirectal abscess SNOMEDCT_US:197166005, SNOMEDCT_US:91669008, UMLS:C0149770, UMLS:C0267566 Ulcer of anus and rectum MONDO:0001772 http://purl.obolibrary.org/obo/MONDO_0001772 - - DOID:13662, ICD10CM:K62.6, ICD9:569.41, MEDGEN:1843457, UMLS:C0400832 Cirrhosis of liver MONDO:0005155 http://purl.obolibrary.org/obo/MONDO_0005155 A disorder characterized by replacement of the liver parenchyma with fibrous tissue and regenerative nodules. It is usually caused by alcoholism, hepatitis B, and hepatitis C. Complications include the development of ascites, esophageal varices, bleeding, and hepatic encephalopathy. cirrhosis DOID:5082, EFO:0001422, ICD9:571.5, MEDGEN:7368, MESH:D008103, NANDO:2100268, NANDO:2200937, NCIT:C2951, SCTID:19943007, UMLS:C0023890 Biliary tract disorder MONDO:0004868 http://purl.obolibrary.org/obo/MONDO_0004868 A disease involving the biliary tree. disease or disorder of biliary tree, biliary tree disease or disorder, biliary tree disease, disease of biliary tree, disorder of biliary tree DOID:9741, EFO:0009534, ICD9:576.9, MEDGEN:108201, MESH:D001660, SCTID:105997008, UMLS:C0549613 Acute pancreatitis MONDO:0006515 http://purl.obolibrary.org/obo/MONDO_0006515 An acute inflammatory process that leads to necrosis of the pancreatic parenchyma. Signs and symptoms include severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock. Causes include alcohol consumption, presence of gallstones, trauma, and drugs. acute pancreatitis (disorder) [ambiguous], pancreatitis, acute DOID:2913, EFO:1000652, HP:0001735, ICD10CM:K85, ICD10WHO:K85, ICD9:577.0, MEDGEN:7872, NCIT:C95437, SCTID:7881005, UMLS:C0001339, Wikipedia:Acute_pancreatitis, icd11.foundation:698285441 Pancreas disorder MONDO:0002356 http://purl.obolibrary.org/obo/MONDO_0002356 A non-neoplastic or neoplastic disorder that affects the pancreas. Representative examples of non-neoplastic disorders include pancreatitis and pancreatic insufficiency. Representative examples of neoplastic disorders include cystadenomas, carcinomas, lymphomas, and neuroendocrine neoplasms. disease or disorder of pancreas, disease of pancreas, disease, pancreatic, diseases, pancreatic, disorder of pancreas, pancreas disease or disorder, pancreas disease, pancreatic disease, pancreatic disorder ICD9:577.9, DOID:26, EFO:0009605, ICD10CM:K86.9, ICD9:577.8, MEDGEN:14583, MESH:D010182, NCIT:C26842, SCTID:3855007, UMLS:C0030286, icd11.foundation:1726554290 Mental disorder MONDO:0005084 http://purl.obolibrary.org/obo/MONDO_0005084 A disease that has its basis in the disruption of mental process. mental or behavioral disorder, disorder of mental process, mental or behavioural disorder, mental process disease EFO:0000677, ICD9:290-299, ICD9:298.8, ICD9:V11.9, MEDGEN:14047, SCTID:74732009, UMLS:C0004936, birnlex:12669 Personality disorder MONDO:0002028 http://purl.obolibrary.org/obo/MONDO_0002028 A diverse category of psychiatric disorders characterized by behavior that deviates markedly from the expectations of the individual's culture; this pattern of deviation is pervasive and inflexible and is stable over time. The behavioral pattern negatively interferes with relationships and work. personality disorder (disease), personality disorder DOID:1510, HP:0012075, ICD9:301.8, ICD9:301.89, ICD9:301.9, MEDGEN:45827, NCIT:C34922, SCTID:33449004, UMLS:C0031212, icd11.foundation:941859884 Psoriatic arthritis MONDO:0011849 http://purl.obolibrary.org/obo/MONDO_0011849 Joint inflammation associated with psoriasis. arthritis psoriatica, arthropathic psoriasis DOID:9008, EFO:0003778, ICD10CM:L40.5, ICD9:696.0, MEDGEN:2077, MESH:D015535, NANDO:2201059, NCIT:C61277, Orphanet:40050, SCTID:156370009, UMLS:C0003872, icd11.foundation:868183264 Urticaria MONDO:0005492 http://purl.obolibrary.org/obo/MONDO_0005492 A vascular reaction of the skin characterized by erythema and wheal formation due to localized increase of vascular permeability. The causative mechanism may be allergy, infection, or stress. Urticarias, hives, urticaria (disease), urticaria DOID:1555, EFO:0005531, HP:0001025, ICD10CM:L50, ICD10WHO:L50, ICD9:708, ICD9:708.8, ICD9:708.9, MEDGEN:22587, MESH:D014581, NCIT:C3432, SCTID:126485001, UMLS:C0042109 Food dermatitis MONDO:0100505 http://purl.obolibrary.org/obo/MONDO_0100505 Dermatitis caused by an allergic reaction to ingested food. dermatitis due to food taken internally NCIT:C34534 Dyshidrosis MONDO:0006540 http://purl.obolibrary.org/obo/MONDO_0006540 A recurrent eczematous reaction characterized by the development of vesicular eruptions on the palms and soles, particularly along the sides and between the digits. It is accompanied by pruritus, a burning sensation, and hyperhidrosis. The disease is self-limiting, lasting only a few weeks. (Dorland, 27th ed) DYSHYDROTIC eczema, dyshidrosis, vesicular eczema of hands and/or feet DOID:9230, EFO:1000688, ICD10CM:L30.1, ICD9:692.9, ICD9:705.81, MEDGEN:10851, MESH:D011146, SCTID:402567004, UMLS:C0032633, Wikipedia:Dyshidrosis Follicular cyst EFO:1001329 http://www.ebi.ac.uk/efo/EFO_1001329 Cyst due to the occlusion of the duct of a follicle or small gland. - ICD10:L72, MESH:D005497, SNOMEDCT:103614000 Hidradenitis suppurativa MONDO:0006559 http://purl.obolibrary.org/obo/MONDO_0006559 A chronic suppurative and cicatricial disease of the apocrine glands occurring chiefly in the axillae in women and in the groin and anal regions in men. It is characterized by poral occlusion with secondary bacterial infection, evolving into abscesses which eventually rupture. As the disease becomes chronic, ulcers appear, sinus tracts enlarge, fistulas develop, and fibrosis and scarring become evident. acne inversa, familial, ectopic acne, fox den disease, pyoderma fistulans significa, verneuil disease, acne inversa, hidradenitis suppurativa DOID:2280, EFO:1000710, ICD10CM:L73.2, MEDGEN:57993, MESH:D017497, Orphanet:387, SCTID:59393003, UMLS:C0162836, Wikipedia:Hidradenitis_suppurativa, icd11.foundation:1621794154 Bacterial arthritis MONDO:0004471 http://purl.obolibrary.org/obo/MONDO_0004471 The inflammation of one or more joints caused by a bacterial infection within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint. infectious arthritis, pyogenic arthritis, septic arthritis DOID:813, EFO:1001351, GARD:0027681, ICD9:711.0, ICD9:711.40, ICD9:711.9, ICD9:711.90, ICD9:711.91, ICD9:711.92, ICD9:711.93, ICD9:711.94, ICD9:711.95, ICD9:711.96, ICD9:711.97, MEDGEN:308434, MESH:D001170, NANDO:2200437, NCIT:C26699, SCTID:48245008, UMLS:C1692886 Back pain HP:0003418 http://purl.obolibrary.org/obo/HP_0003418 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back. Back pain SNOMEDCT_US:161891005, UMLS:C0004604 Hallux valgus HP:0001822 http://purl.obolibrary.org/obo/HP_0001822 Lateral deviation of the great toe (i.e., in the direction of the little toe). Lateral deviation of great toe, Lateral deviation of halluces, Bunion SNOMEDCT_US:122480009, SNOMEDCT_US:415692008, UMLS:C0006386, UMLS:C0018536 Lateral epicondylitis EFO:1001896 http://www.ebi.ac.uk/efo/EFO_1001896 inflammation of the lateral epicondyle. archer's elbow, golfer's elbow, hockey elbow, lateral epicondylalgia, lateral humeral epicondylitis, tennis elbow DOID:14088, MESH:D013716, MedDRA:10018503, MedDRA:10024032, NCIt:C35067, UMLS:C0039516 Bursitis MONDO:0002471 http://purl.obolibrary.org/obo/MONDO_0002471 Inflammation or irritation of a synovial bursa, the fibrous sac that acts as a cushion between moving structures of bones, muscles, tendons or skin. inflammation of synovial bursa, Bursitides, Capsulitides, Capsulitides, adhesive, Capsulitides, shoulder adhesive, adhesive Capsulitides, adhesive Capsulitides, shoulder, adhesive capsulitis of the shoulder, adhesive capsulitis, adhesive capsulitis, shoulder, capsulitis, capsulitis, adhesive, capsulitis, shoulder adhesive, frozen shoulder, frozen shoulders, shoulder adhesive Capsulitides, shoulder adhesive capsulitis, shoulder, frozen, shoulders, frozen, synovial bursa inflammation DOID:2965, ICD9:727.3, MEDGEN:691, MESH:D002062, NCIT:C94407, SCTID:84017003, UMLS:C0006444, icd11.foundation:1984620329 Connective tissue disorder MONDO:0003900 http://purl.obolibrary.org/obo/MONDO_0003900 Following clinical usage of the term 'connective tissue disorder' this grouping excludes some diseases affecting tissues classically considered to be connective tissue, such as bone. disease or disorder of connective tissue, disease, connective tissue, tissue disease, connective, connective tissue disease or disorder, connective tissue disease, connective tissue diseases, connective tissue disorder, connective tissue disorders, disease of connective tissue, disorder of connective tissue, primary disorder of connective tissue DOID:65, EFO:1001986, MEDGEN:1098, MESH:D003240, NANDO:2100172, NCIT:C26729, SCTID:105969002, UMLS:C0009782 Arthritic joint disease MONDO:0005578 http://purl.obolibrary.org/obo/MONDO_0005578 Editor note: osteoarthritis is primarily non-inflammatory which causes issues if we classify arthritis as inflammatory. inflammation of skeletal joint, inflammatory disorder of joint, arthritis, skeletal joint inflammation DOID:848, EFO:0005856, MEDGEN:2043, MESH:D001168, NCIT:C2883, SCTID:3723001, UMLS:C0003864, Wikipedia:Arthritis Radiculopathy MONDO:0002959 http://purl.obolibrary.org/obo/MONDO_0002959 Editor note: DO classifies under polyradiculopathy, which we invert nerve root disorder DOID:4306, ICD10CM:M54.1, MEDGEN:147133, MESH:D011843, SCTID:72274001, UMLS:C0700594, icd11.foundation:1802542189 Lumbago with sciatica SNOMED:202794004 http://snomed.info/id/202794004 Lumbago with sciatica Lumbago with sciatica, Lumbago with sciatica (disorder) - Disorders of patella EFO:0009665 http://www.ebi.ac.uk/efo/EFO_0009665 A disease involving the patella, a large sesamoid bone found in the distal femur/proximal tibial region of the hindlimb of tetrapods. The patella is the attachment site for proximal hindlimb tendons. patella disease ICD10:M22 Myositis disease MONDO:0021167 http://purl.obolibrary.org/obo/MONDO_0021167 An inflammatory disease involving a pathogenic inflammatory response in the muscle tissue. inflammation of muscle tissue, inflammatory disorder of muscle (disorder), muscle tissue inflammation DOID:633, EFO:0000783, ICD9:728.9, MEDGEN:44564, MESH:D009220, NCIT:C27578, SCTID:128496001, UMLS:C0027121 Tendon rupture HP:0100550 http://purl.obolibrary.org/obo/HP_0100550 Tendon rupture is usually painful,and accompanied by swelling, inability to move, and bunching up of the muscle normally attached to the tendon. Tendon/muscle rupture, Rupture of tendons, Ruptured tendon, Tendon rupture SNOMEDCT_US:415749005, UMLS:C0151937 Rheumatic disorder MONDO:0005554 http://purl.obolibrary.org/obo/MONDO_0005554 This is an umbrella term encompassing conditions causing chronic, often intermittent pain affecting the joints and/or connective tissue disease, rheumatic, diseases, rheumatic, enthesopathies, enthesopathy, rheumatic disease, rheumatism, rheumatologic disorder DOID:1575, EFO:0005755, ICD9:729.0, MEDGEN:3157, MESH:D012216, NANDO:2100151, NANDO:2100152, NCIT:C27204, SCTID:396332003, UMLS:C0009326, Wikipedia:Rheumatism Meningitis MONDO:0021108 http://purl.obolibrary.org/obo/MONDO_0021108 A disorder characterized by acute inflammation of the meninges of the brain and/or spinal cord. inflammation of meninx, meningitis (disease), meningitis, meninx inflammation ICD9:322.9, MEDGEN:6298, MESH:D008581, NCIT:C26828, SCTID:7180009, UMLS:C0025289 Urethral disorder MONDO:0004184 http://purl.obolibrary.org/obo/MONDO_0004184 A disease involving the urethra. disease or disorder of urethra, disease of urethra, disorder of urethra, urethra disease or disorder, urethra disease, urethra disorder DOID:732, EFO:0009689, MEDGEN:22569, MESH:D014522, NCIT:C26903, SCTID:4985009, UMLS:C0041969 Prostate disorder MONDO:0003105 http://purl.obolibrary.org/obo/MONDO_0003105 A disease involving the prostate gland. disease or disorder of prostate gland, disease of prostate gland, disorder of prostate gland, prostate disease, prostate disorder, prostate gland disease or disorder, prostate gland disease DOID:47, EFO:0009602, ICD9:602.8, ICD9:602.9, MEDGEN:10964, MESH:D011469, NCIT:C26865, SCTID:30281009, UMLS:C0033575 Penile disorder MONDO:0002036 http://purl.obolibrary.org/obo/MONDO_0002036 A non-neoplastic or neoplastic disorder that affects the penis. Representative examples of non-neoplastic disorders include phimosis, balanitis, and hypospadias. Representative examples of neoplastic disorders include hemangioma, penile intraepithelial neoplasia, and penile carcinoma. disease or disorder of penis, disease of penis, disorder of penis, penile disease, penile disorder, penis disease or disorder, penis disease ICD9:607.9, DOID:1529, ICD9:607.8, ICD9:607.89, MEDGEN:10627, MESH:D010409, NCIT:C26846, SCTID:33958003, UMLS:C0030846 Breast lump SNOMED:89164003 http://snomed.info/id/89164003 Breast lump Breast irregular nodularity, Breast lump, Breast lump (finding), Breast mass, Lumpy breast, Lumpy breasts, Mass in breast - Chronic salpingo-oophoritis DOID:12265 http://purl.obolibrary.org/obo/DOID_12265 A salpingo-oophoritis that is chronic in nature, involving persistent inflammation of the fallopian tube and ovary. chronic salpingitis and oophoritis, chronic salpingitis/oophoritis ICD10CM:N70.1, ICD9CM:614.1, SNOMEDCT_US_2025_09_01:198142001, UMLS_CUI:C0156328 Bartholin duct cyst MONDO:0004593 http://purl.obolibrary.org/obo/MONDO_0004593 Distension of the Bartholin gland duct caused by an accumulation of mucus in the duct, usually as a result of obstruction of the gland duct orifice. cyst of Bartholin's gland DOID:851, ICD10CM:N75.0, ICD9:616.2, MEDGEN:14032, SCTID:57044006, UMLS:C0004767 Polyp MONDO:0005079 http://purl.obolibrary.org/obo/MONDO_0005079 A usually exophytic mass attached to the underlying tissue by a broad base or a thin stalk. Polyps can be neoplastic or non-neoplastic. Neoplastic polyps usually represent proliferations of the epithelium, and are commonly seen in the gastrointestinal tract. Polyps of the gastrointestinal tract are often called adenomas, are associated with dysplasia, and may eventually transform into carcinomas. Non-neoplastic polyps may be inflammatory, degenerative, or the result of malformations. polyp EFO:0000662, ICD10CM:N84, MEDGEN:19397, MESH:D011127, NCIT:C3340, SCTID:441456002, UMLS:C0032584 Uterine cervix carcinoma in situ MONDO:0042487 http://purl.obolibrary.org/obo/MONDO_0042487 Stage 0 includes: (Tis, N0, M0). Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th ed.) - 2003 CIN 3 aJCC v6, CIN grade 3 aJCC v6, FIGO stage 0 carcinoma of cervix uteri, FIGO stage 0 carcinoma of cervix, FIGO stage 0 carcinoma of the cervix uteri, FIGO stage 0 carcinoma of the cervix, FIGO stage 0 carcinoma of the uterine cervix, FIGO stage 0 carcinoma of uterine cervix, FIGO stage 0 cervical carcinoma, FIGO stage 0 cervix carcinoma, FIGO stage 0 cervix uteri carcinoma, FIGO stage 0 uterine cervix carcinoma, carcinoma in situ of cervix aJCC v6, carcinoma in situ of cervix uteri aJCC v6, carcinoma in situ of the cervix aJCC v6, carcinoma in situ of the cervix uteri aJCC v6, carcinoma in situ of the uterine cervix aJCC v6, carcinoma in situ of uterine cervix aJCC v6, carcinoma in situ of uterine cervix, cervical Severe dysplasia aJCC v6, cervical cancer stage 0 aJCC v6, cervical carcinoma in situ aJCC v6, cervical intraepithelial neoplasia grade 3 aJCC v6, cervix Severe dysplasia aJCC v6, cervix carcinoma in situ aJCC v6, cervix intraepithelial neoplasia grade 3 aJCC v6, cervix uteri Severe dysplasia aJCC v6, cervix uteri carcinoma in situ aJCC v6, cervix uteri intraepithelial neoplasia grade 3 aJCC v6, grade 3 cervical intraepithelial neoplasia aJCC v6, intraepithelial neoplasia of cervix grade 3 aJCC v6, intraepithelial neoplasia of cervix uteri grade 3 aJCC v6, intraepithelial neoplasia of the cervix grade 3 aJCC v6, intraepithelial neoplasia of the cervix uteri grade 3 aJCC v6, intraepithelial neoplasia of the uterine cervix grade 3 aJCC v6, intraepithelial neoplasia of uterine cervix grade 3 aJCC v6, severe cervical dysplasia aJCC v6, severe dysplasia of cervix aJCC v6, severe dysplasia of cervix uteri aJCC v6, severe dysplasia of the cervix aJCC v6, severe dysplasia of the cervix uteri aJCC v6, severe dysplasia of the uterine cervix aJCC v6, severe dysplasia of uterine cervix aJCC v6, stage 0 cervical cancer aJCC v6, stage 0 cervical cancer, stage 0 uterine cervix carcinoma, uterine cervix Severe dysplasia aJCC v6, uterine cervix carcinoma in situ aJCC v6, uterine cervix intraepithelial neoplasia grade 3 aJCC v6 DOID:8991, ICD9:233.1, MEDGEN:163094, MESH:D018290, NCIT:C4000, SCTID:254889004, UMLS:C0851140 Cervix disorder MONDO:0002256 http://purl.obolibrary.org/obo/MONDO_0002256 A non-neoplastic or neoplastic disorder that affects the cervix. Representative examples include cervicitis, endocervical polyp, and carcinoma. disease or disorder of uterine cervix, cervical disorder, disease of uterine cervix, disorder of uterine cervix, uterine cervix disease or disorder, uterine cervix disease DOID:2253, MEDGEN:2970, MESH:D002577, NCIT:C40241, SCTID:63339007, UMLS:C0007867 Uterine Hemorrhage mesh:D014592 http://id.nlm.nih.gov/mesh/D014592 Bleeding from blood vessels in the UTERUS, sometimes manifested as vaginal bleeding. Uterine Hemorrhage, Uterine Hemorrhages, Hemorrhage, Uterine, Uterine Bleeding, Bleeding, Uterine, Uterine Bleedings, Vaginal Bleeding, Bleedings, Vaginal, Bleeding, Vaginal, Vaginal Bleedings - Menstrual pain GSSO:001367 http://purl.obolibrary.org/obo/GSSO_001367 Pain related to the process of menstruation. pain menstrual, period pain MESH:D004412, ICD10:N94.4 Menopausal or post-menopausal disease EFO:0010685 http://www.ebi.ac.uk/efo/EFO_0010685 Any disease during or after menopause. menopausal or post-menopausal disorder ICD9:627 Hemorrhage MP:0001914 http://purl.obolibrary.org/obo/MP_0001914 loss of blood from the vascular compartment to the exterior or into nonvascular body space as a result of rupture or severance of the blood vessels bleeding, haemorrhage - Maternal Care NCIT:C215382 http://purl.obolibrary.org/obo/NCIT_C215382 Healthcare services provided to a mother before, during, and after childbirth. Maternal Care - Chest pain HP:0100749 http://purl.obolibrary.org/obo/HP_0100749 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest. Chest discomfort, Thoracic pain, Chest pain SNOMEDCT_US:29857009, UMLS:C0008031 Pelvic pain MONDO:0009842 http://purl.obolibrary.org/obo/MONDO_0009842 An autoinflammatory disease with defective neutrophil function caused by a homozygous Arg219His mutation in the transcription factor C/EBP¦Å. Pelger-Huet-like anomaly and episodic fever with abdominal pain, immunodeficiency 108 with autoinflammation DOID:0061077, GARD:0024698, MEDGEN:376692, MESH:C564899, OMIM:260570, UMLS:C1850054 Nausea and vomiting D017699 http://id.nlm.nih.gov/mesh/D017699 Pain in the pelvic region of genital and non-genital origin. Pelvic Pain, Pain, Pelvic, Pains, Pelvic, Pelvic Pains - Jaundice MP:0000611 http://purl.obolibrary.org/obo/MP_0000611 clinical manifestation of hyperbilirubinemia, with deposition of bile pigments in the skin, resulting in yellowish staining of the skin and mucous membranes icterus - Eye adnexa disorder MONDO:0000462 http://purl.obolibrary.org/obo/MONDO_0000462 A disease involving the ocular adnexa. disease or disorder of ocular adnexa, disease of ocular adnexa, disorder of ocular adnexa, ocular adnexa disease or disorder, ocular adnexa disease DOID:0050815, EFO:0009546, ICD10WHO:H00-H06, MEDGEN:713201, SCTID:118941004, UMLS:C1290855 Vocal cord dysfunction HP:0031801 http://purl.obolibrary.org/obo/HP_0031801 Any functional anomaly of the vocal cord. - - Energy intake EFO:0003939 http://www.ebi.ac.uk/efo/EFO_0003939 Total number of calories taken in daily whether ingested or by parenteral routes. Caloric Intake MESH:D002149, NCIt:C28135 Fat intake measurement EFO:0010809 http://www.ebi.ac.uk/efo/EFO_0010809 Quantification of the fat intake of an individual. fat consumption measurement PMID:32393786 Distressed by Trouble Falling Asleep Question NCIT:C121160 http://purl.obolibrary.org/obo/NCIT_C121160 A question about whether an individual is or has been distressed because they have trouble falling asleep. Distressed by Trouble Falling Asleep Question, Distressed by Trouble Falling Asleep, Trouble falling asleep - Miscarriage HP:0005268 http://purl.obolibrary.org/obo/HP_0005268 The age at which fetal demise is legally classified asa a miscarriage varies between countries with the US being 20 gestational weeks and the UK being 24 gestational weeks. The HPO chooses the average of these age ranges. Early fetal demise, Spontaneous abortion, Early foetal demise SNOMEDCT_US:17369002, UMLS:C0000786 Intrahepatic bile duct cancer MONDO:0001487 http://purl.obolibrary.org/obo/MONDO_0001487 A cancer that involves the intrahepatic bile duct. cancer of intrahepatic bile duct, malignant intrahepatic bile duct neoplasm, malignant neoplasm of intrahepatic bile duct, malignant neoplasm of intrahepatic bile ducts DOID:12298, GARD:0022955, ICD9:155.1, MEDGEN:639748, SCTID:187777008, UMLS:C0546835, icd11.foundation:1938186540 Leg dermatosis MONDO:0006569 http://purl.obolibrary.org/obo/MONDO_0006569 A nonspecific term used to denote any cutaneous lesion or group of lesions, or eruptions of any type on the leg. (From Stedman, 25th ed) - DOID:3142, MEDGEN:9700, MESH:D007868, UMLS:C0023219 Astigmatism MONDO:0011284 http://purl.obolibrary.org/obo/MONDO_0011284 Unequal curvature of the refractive surfaces of the eye. Thus a point source of light cannot be brought to a point focus on the retina but is spread over a more or less diffuse area. This results from the radius of curvature in one plane being longer or shorter than the radius at right angles to it. (Dorland, 27th ed) astigmatism (disease), astigmatism CSP:1116-1831, DOID:11782, HP:0000483, ICD10CM:H52.2, ICD9:367.2, ICD9:367.20, MEDGEN:2473, MESH:D001251, OMIM:603047, SCTID:82649003, UMLS:C0004106, icd11.foundation:402558626 Sudden sensorineural hearing loss MONDO:0043373 http://purl.obolibrary.org/obo/MONDO_0043373 Sensorineural hearing loss which develops suddenly over a period of hours or a few days. It varies in severity from mild to total deafness. Sudden deafness can be due to head trauma, vascular diseases, infections, or can appear without obvious cause or warning. acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma, deafness, sudden, sudden deafness, sudden hearing loss, sudden sensorineural hearing loss GARD:0012927, MEDGEN:907022, MESH:D003639, Orphanet:90059, SCTID:715239002, UMLS:C4275242 Herpes zoster MONDO:0005609 http://purl.obolibrary.org/obo/MONDO_0005609 A common dermal and neurologic disorder caused by reactivation of the varicella-zoster virus that has remained dormant within dorsal root ganglia, often for decades, after the patient's initial exposure to the virus in the form of varicella (chickenpox). It is characterized by severe neuralgic pain along the distribution of the affected nerve and crops of clustered vesicles over the area. Zoster, herpes Zoster, shingles DOID:8536, EFO:0006510, ICD10CM:B02, ICD9:053, MEDGEN:42437, MESH:D006562, NCIT:C71079, SCTID:4740000, UMLS:C0019360 Follicular lymphoma MONDO:0018906 http://purl.obolibrary.org/obo/MONDO_0018906 Follicular lymphoma is a form of non-Hodgkin lymphoma characterized by a proliferation of B cells whose nodular structure of follicular architecture is preserved. follicular center cell lymphoma, lymphoma, follicular center cell, follicle center lymphoma, follicle centre lymphoma, follicular centre cell lymphoma, follicular non-Hodgkin lymphoma, follicular non-Hodgkin's lymphoma, lymphoma, follicular centre cell, lymphoma, follicular, lymphoma, follicular, malignant DOID:0050873, GARD:0002356, HGNC:990, ICD10CM:C82, ICD10WHO:C82, ICDO:9690/3, MEDGEN:7417, MESH:D008224, NCIT:C3209, NORD:1983, ONCOTREE:FL, Orphanet:545, SCTID:308121000, UMLS:C0024301, icd11.foundation:797822185 Splenic hodgkin lymphoma MONDO:0006429 http://purl.obolibrary.org/obo/MONDO_0006429 A rare Hodgkin lymphoma that arises from the spleen. Hodgkin's disease of spleen, Hodgkin's disease of the spleen, Hodgkin's lymphoma of spleen, Hodgkin's lymphoma of the spleen, primary splenic Hodgkin's lymphoma, splenic Hodgkin's disease, splenic Hodgkin's lymphoma, splenic Hodgkins lymphoma GARD:0024409, MEDGEN:56323, NCIT:C7295, SCTID:93527005, UMLS:C0153791 Lymphoid leukemia MONDO:0005402 http://purl.obolibrary.org/obo/MONDO_0005402 A malignant lymphocytic neoplasm of B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. This category includes precursor or acute lymphoblastic leukemias and chronic leukemias. subacute lymphoid leukemia, leukemia, LYMPHOCYTIC, malignant, lymphocytic leukemia, lymphogenous leukaemia, lymphogenous leukemia, lymphoid leukaemia (disease), lymphoid leukemia (disease), lymphoid leukemia, subacute lymphoid leukaemia DOID:1037, DOID:10747, EFO:0004289, GARD:0024179, HP:0005526, ICD10CM:C91, ICD9:204, ICD9:204.2, ICD9:204.20, ICDO:981-983, ICDO:9820/3, MEDGEN:9728, MESH:D007945, NCIT:C7539, SCTID:188726003, UMLS:C0023448 Tonsil neoplasm MONDO:0021250 http://purl.obolibrary.org/obo/MONDO_0021250 A neoplasm (disease) that involves the tonsil. neoplasm of the tonsil, neoplasm of tonsil, tonsil neoplasm (disease), tonsil tumor, tonsil tumour, tonsillar neoplasm, tonsillar neoplasms, tonsillar tumor, tonsillar tumour, tumor of the tonsil, tumor of tonsil, tumour of the tonsil, tumour of tonsil MEDGEN:21201, NCIT:C3417, SCTID:127227003, UMLS:C0040422 Tongue cancer MONDO:0004631 http://purl.obolibrary.org/obo/MONDO_0004631 A malignant neoplasm affecting the tongue. The vast majority of cases are carcinomas. malignant neoplasm of anterior 2/3 of tongue, malignant neoplasm of anterior two-thirds of tongue, malignant neoplasm of anterior two-thirds of tongue, part unspecified, malignant neoplasm of base of tongue, malignant neoplasm of dorsal surface of tongue, malignant neoplasm of dorsal tongue NOS, malignant neoplasm of dorsal tongue, malignant neoplasm of dorsum of tongue, malignant neoplasm of fixed part of tongue NOS, malignant neoplasm of fixed part of tongue, malignant neoplasm of junctional zone of tongue, malignant neoplasm of mobile part of tongue NOS, malignant neoplasm of mobile part of tongue, malignant neoplasm of other sites of tongue, malignant neoplasm of the tongue, malignant neoplasm of tip and lateral border of tongue, malignant neoplasm of tip and/or lateral border of tongue, malignant neoplasm of tongue NOS, malignant neoplasm of tongue, NOS, malignant neoplasm of tongue, tip and lateral border, malignant neoplasm of ventral surface of tongue, malignant neoplasm of ventral tongue surface, malignant tumor of anterior two-thirds of tongue, malignant tumor of base of tongue, malignant tumor of mobile part of tongue, malignant tumor of posterior tongue, tongue neoplasm malignant stage unspecified, tongue neoplasm malignant, cancer of tongue, malignant neoplasm of border of tongue, malignant neoplasm of lingual tonsil, malignant neoplasm of tongue, malignant tongue neoplasm, malignant tongue tumor, malignant tongue tumour, malignant tumor of lingual tonsil (disorder), malignant tumor of lingual tonsil, malignant tumor of the tongue, malignant tumor of tongue, malignant tumour of anterior two-thirds of tongue, malignant tumour of base of tongue, malignant tumour of lingual tonsil (disorder), malignant tumour of lingual tonsil, malignant tumour of mobile part of tongue, malignant tumour of posterior tongue, malignant tumour of the tongue, malignant tumour of tongue, tongue cancer, tongue carcinoma, tongue neoplasm, malignant DOID:8649, GARD:0027692, ICD9:141, ICD9:141.0, ICD9:141.1, ICD9:141.2, ICD9:141.3, ICD9:141.4, ICD9:141.5, ICD9:141.6, ICD9:141.9, MEDGEN:102262, MESH:D014062, NCIT:C9345, SCTID:363360003, UMLS:C0153349 Tonsil cancer MONDO:0006998 http://purl.obolibrary.org/obo/MONDO_0006998 A primary or metastatic malignant neoplasm that affects the tonsil. cancer of tonsil, malignant neoplasm of the tonsil, malignant neoplasm of tonsil, malignant tonsil neoplasm, malignant tonsil tumor, malignant tonsil tumour, malignant tonsillar neoplasm, malignant tonsillar tumor, malignant tonsillar tumour, malignant tumor of the tonsil, malignant tumor of tonsil, malignant tumour of the tonsil, malignant tumour of tonsil, tonsil cancer DOID:8858, EFO:1001214, GARD:0027770, ICD10CM:C09, ICD9:146.0, MEDGEN:148341, MESH:D014067, MedDRA:10044002, NCIT:C7404, SCTID:363393007, UMLS:C0751560, icd11.foundation:2044833589 Bronchus cancer MONDO:0001672 http://purl.obolibrary.org/obo/MONDO_0001672 A malignant neoplasm involving the bronchus malignant neoplasm of bronchus and lung, bronchus cancer, cancer of bronchus, malignant bronchus neoplasm, malignant neoplasm of bronchus and lung, unspecified, malignant neoplasm of bronchus DOID:1325, ICD9:162.8, ICD9:162.9, MEDGEN:730206, NCIT:C156885, SCTID:363493006, UMLS:C1322284, icd11.foundation:1501594633 Non-Hodgkin lymphoma MONDO:0018908 http://purl.obolibrary.org/obo/MONDO_0018908 Distinct from Hodgkin lymphoma both morphologically and biologically, non-Hodgkin lymphoma (NHL) is characterized by the absence of Reed-Sternberg cells, can occur at any age, and usually presents as a localized or generalized lymphadenopathy associated with fever and weight loss. The clinical course varies according to the morphologic type. NHL is clinically classified as indolent, aggressive, or having a variable clinical course. NHL can be of B-or T-/NK-cell lineage. NHL, non-Hodgkin lymphoma, non-Hodgkin's lymphoma (NHL), non-Hodgkin's lymphoma, non-Hodgkins lymphoma DOID:0060060, EFO:0005952, ICDO:9591/3, MEDGEN:6160, MESH:D008228, MedDRA:10029547, NCIT:C3211, ONCOTREE:NHL, Orphanet:547, UMLS:C0024305 Skin carcinoma in situ MONDO:0004641 http://purl.obolibrary.org/obo/MONDO_0004641 A in situ carcinoma that involves the zone of skin. nonmelanoma carcinoma in situ, stage 0 nonmelanoma skin carcinoma in situ, zone of skin carcinoma in situ, carcinoma in situ of skin, carcinoma in situ of the skin, carcinoma in situ of zone of skin, carcinoma of skin stage 0, carcinoma of the skin stage 0, cutaneous carcinoma in situ, skin cancer stage 0, skin carcinoma in situ, skin carcinoma stage 0, stage 0 skin cancer aJCC v6, stage 0 skin cancer aJCC v7, stage 0 skin cancer, stage 0 skin carcinoma, stage 0 zone of skin carcinoma, zone of skin in situ carcinoma DOID:8687, ICD10CM:D04, ICD9:232, ICD9:232.0, ICD9:232.2, ICD9:232.3, ICD9:232.4, ICD9:232.5, ICD9:232.6, ICD9:232.7, ICD9:232.8, ICD9:232.9, MEDGEN:102308, NCIT:C3640, SCTID:92749008, UMLS:C0154073 Benign neoplasm MONDO:0005165 http://purl.obolibrary.org/obo/MONDO_0005165 Editor note: see https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/14 benign neoplasm (disease), benign neoplasm, benign tumour, benign unclassifiable tumour, neoplasm (disease), benign DOID:0060072, DOID:0060084, DOID:0060085, EFO:0002422, ICD10CM:D10-D36, ICD10WHO:D10-D36, ICD9:210-229, ICD9:229.8, ICD9:229.9, ICDO:8000/0, MEDGEN:39483, NCIT:C3677, SCTID:20376005, UMLS:C0086692 Ovarian benign neoplasm MONDO:0000646 http://purl.obolibrary.org/obo/MONDO_0000646 A non-metastasizing neoplasm that arises from the ovary. Representative examples include serous cystadenoma, mucinous cystadenoma, clear cell adenofibroma, benign Brenner tumor, thecoma, and fibroma. benign neoplasm of ovary, benign neoplasm of the ovary, benign ovarian neoplasm, benign ovarian tumor, benign ovarian tumour, benign tumor of ovary, benign tumor of the ovary, benign tumour of ovary, benign tumour of the ovary, ovary benign neoplasm DOID:0060112, EFO:1000116, MEDGEN:14058, NCIT:C2895, SCTID:92260003, UMLS:C0004997, icd11.foundation:181365103 Secondary polycythaemia MONDO:0020115 http://purl.obolibrary.org/obo/MONDO_0020115 Secondary polycythemia is an elevated absolute red blood cell mass caused by enhanced stimulation of red blood cell production by an otherwise normal erythroid lineage that may be congenital or acquired (congenital secondary polycythemia and acquired secondary polycythemia). secondary erythrocytosis, secondary polycythemia GARD:0019467, ICD10CM:D75.1, MEDGEN:231144, MedDRA:10036062, NCIT:C27178, Orphanet:98428, UMLS:C1318533 Mineral metabolism disease MONDO:0000226 http://purl.obolibrary.org/obo/MONDO_0000226 - disease of mineral metabolism, disorder of mineral metabolism EFO:0009556, ICD10CM:E83, ICD9:275.8, ICD9:275.9, MEDGEN:509562, SCTID:45744005, UMLS:C0154260 Sleep Disorders, Circadian Rhythm mesh:D020178 http://id.nlm.nih.gov/mesh/D020178 Dyssomnias associated with disruption of the normal 24 hour sleep wake cycle secondary to travel (e.g., JET LAG SYNDROME), shift work, or other causes. Sleep Disorders, Circadian Rhythm, Circadian Rhythm Sleep Disorder, Sleep-Wake Schedule Disorders, Sleep Wake Schedule Disorders, Sleep-Wake Cycle Disorders, Sleep Wake Cycle Disorders, Circadian Rhythm Sleep Disorders, Disturbed Nyctohemeral Rhythm, Disturbed Nyctohemeral Rhythms, Nyctohemeral Rhythm, Disturbed, Nyctohemeral Rhythms, Disturbed, Sleep-Wake Cycle Disorder, Sleep Wake Cycle Disorder, Sleep-Wake Schedule Disorder, Sleep Wake Schedule Disorder, Shift-Work Sleep Disorder, Shift Work Sleep Disorder, Sleep Disorder, Shift-Work, Shift-Work Sleep Disorders, Sleep Disorder, Shift Work, Sleep Disorders, Shift-Work, Advanced Sleep Phase Syndrome, Delayed Sleep Phase Syndrome, Delayed Sleep-Phase Syndrome, Delayed Sleep-Phase Syndromes, Non-24 Hour Sleep-Wake Disorder, Non 24 Hour Sleep Wake Disorder, Sleep-Wake Disorder, Non-24 Hour, Sleep Wake Disorder, Non 24 Hour, Nonorganic Sleep Wake Cycle Disorders, Nonorganic Sleep Wake Cycle Disorder - Peripheral nervous system disorder MONDO:0003620 http://purl.obolibrary.org/obo/MONDO_0003620 A disease involving the peripheral nervous system. disease or disorder of peripheral nervous system, disorder of the peripheral nervous system, PNS (peripheral nervous system) diseases, PNS disease, PNS diseases, disease of peripheral nervous system, disorder of peripheral nervous system, nerve disease, peripheral, nerve diseases, peripheral, neuropathy, peripheral, peripheral Neuropathies, peripheral nerve disease, peripheral nerve diseases, peripheral nervous system disease or disorder, peripheral nervous system disease, peripheral nervous system disorder, peripheral nervous system disorders, peripheral neuropathy DOID:574, EFO:0009387, ICD9:350-359, ICD9:356.9, MEDGEN:892389, MESH:D010523, NCIT:C27580, SCTID:42658009, UMLS:C4025831 Bell's palsy MONDO:0005665 http://purl.obolibrary.org/obo/MONDO_0005665 Partial or complete paralysis of the facial muscles of one side of a person's face. It is caused by damage to the seventh cranial nerve. It is usually temporary but it may recur. nerve paralysis, Facial, paralysis Of Facial nerve, facial nerve palsy, facial nerve paralysis, palsy of facial nerve DOID:12506, EFO:0007167, ICD10CM:G51.0, ICD9:351.0, MEDGEN:87660, MESH:D020330, NCIT:C26769, Orphanet:2810, SCTID:193093009, UMLS:C0376175 Systemic atrophies MONDO:0005100 http://purl.obolibrary.org/obo/MONDO_0005100 A chronic disorder, possibly autoimmune, marked by excessive production of collagen which results in hardening and thickening of body tissues. The two types of systemic scleroderma, limited cutaneous and diffuse cutaneous are classified with focus on the extent of affected skin. A relationship exists between the extent of skin area affected and degree of internal organ/system involvement. Systemic scleroderma can manifest itself in pulmonary fibrosis, Raynaud's syndrome, digestive system telangiectasias, renal hypertension and/or pulmonary hypertension. Scleroderma, SSc, SSc, diffuse sclerosis, Scleroderma, diffuse, Scleroderma, systemic, Systemic Scleroderma, diffuse Scleroderma, diffuse sclerosis, systemic Scleroderma, systemic scleroderma, systemic sclerosis DOID:418, EFO:0000717, GARD:0009748, ICD10CM:M34, ICD10WHO:M34, ICD9:710.1, MEDGEN:19897, MESH:D012595, MedDRA:10042953, NANDO:1200277, NANDO:2200429, NCIT:C72070, NORD:2007, Orphanet:90291, SCTID:89155008, UMLS:C0036421, icd11.foundation:1084365812 Spinal cord disorder MONDO:0002545 http://purl.obolibrary.org/obo/MONDO_0002545 A disease involving the spinal cord. disease or disorder of spinal cord, disease of spinal cord, disease of the spinal cord, disorder of spinal cord, spinal cord disease or disorder, spinal cord disease, spinal cord disorder DOID:319, EFO:0009488, ICD9:336.8, ICD9:336.9, MEDGEN:11550, MESH:D013118, NCIT:C97110, SCTID:48522003, UMLS:C0037928 Conjunctival disorder MONDO:0006170 http://purl.obolibrary.org/obo/MONDO_0006170 Any disorder of the conjunctiva. disease or disorder of conjunctiva, conjunctiva disease or disorder, conjunctiva disease, conjunctival disease, conjunctival disorder, disease of conjunctiva, disorder of conjunctiva DOID:4251, EFO:1000203, ICD10CM:H10-H11, MEDGEN:3207, NCIT:C27605, UMLS:C0009759 Keratitis MONDO:0003085 http://purl.obolibrary.org/obo/MONDO_0003085 A corneal disease that is characterized by inflammation of the cornea. inflammation of cornea, cornea inflammation DOID:4677, EFO:0009449, ICD10CM:H16, ICD10WHO:H16, ICD9:370, ICD9:370.8, ICD9:370.9, MEDGEN:44013, MESH:D007634, NCIT:C26805, SCTID:5888003, UMLS:C0022568 Retinal disorder MONDO:0005283 http://purl.obolibrary.org/obo/MONDO_0005283 Any disease or disorder of the retina. eye disease of retina, retina eye disease, retinopathy DOID:5679, EFO:0003839, HGNC:8002, ICD9:362.89, ICD9:362.9, MEDGEN:11209, MESH:D012164, NCIT:C26875, NCIT:C62601, SCTID:29555009, UMLS:C0035309 Paralytic strabismus MONDO:0001143 http://purl.obolibrary.org/obo/MONDO_0001143 - paralytic squint HP:0031775, DOID:10863, EFO:0009678, ICD10CM:H49, ICD10WHO:H49, ICD9:378.5, ICD9:378.50, MEDGEN:508935, SCTID:400942002, UMLS:C0152221, icd11.foundation:1858781487 Eye accommodation disease MONDO:0000926 http://purl.obolibrary.org/obo/MONDO_0000926 Disease that disrupts the process by which the vertebrate eye changes optical power to maintain a clear image or focus on an object as its distance varies. disorder of accommodation DOID:10034, ICD9:367.5, MEDGEN:508925, SCTID:54552008, UMLS:C0152198 Blepharitis MONDO:0004785 http://purl.obolibrary.org/obo/MONDO_0004785 Inflammation of the eyelids near the eyelashes. inflammation of eyelid, eyelid inflammation DOID:9423, EFO:0009536, ICD10CM:H01.0, ICD9:373.0, ICD9:373.00, ICD9:373.4, ICD9:373.8, ICD9:373.9, MEDGEN:598, MESH:D001762, NCIT:C112183, SCTID:41446000, UMLS:C0005741 Pterygium HP:0001059 http://purl.obolibrary.org/obo/HP_0001059 Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits. Pterygia SNOMEDCT_US:77489003, UMLS:C0033999 Ptosis of eyelid (disorder) SNOMED:11934000 http://snomed.info/id/11934000 Ptosis of eyelid Blepharoptosis, Drooping eyelid, Droopy eyelid, Ptosis, Ptosis eyelid, Ptosis of eyelid, Ptosis of eyelid (disorder) - Chronic purulent otitis media MONDO:0001920 http://purl.obolibrary.org/obo/MONDO_0001920 Otitis media that persists for at least six weeks, and that is associated with otorrhea through a perforated tympanic membrane. CSOM, chronic suppurative otitis Media, chronic suppurative otitis media, suppurative otitis media, chronic DOID:14247, ICD9:382.3, MEDGEN:543356, NCIT:C128386, SCTID:38394007, UMLS:C0271454, icd11.foundation:669695172 Multiple valve diseases SNOMED:195002007 http://snomed.info/id/195002007 Multiple valve disease Multiple valve disease, Multiple valve disease (disorder) - Arterial thrombosis HP:0004420 http://purl.obolibrary.org/obo/HP_0004420 The formation of a blood clot inside an artery. Blood clot in artery SNOMEDCT_US:65198009, UMLS:C0151942 Arterial disorder MONDO:0000473 http://purl.obolibrary.org/obo/MONDO_0000473 An impairment of the structure or function of the blood vessels which carry blood away from the heart. disease or disorder of artery, arterial disease, arterial disorder, arteriopathy, artery disease or disorder, artery disease, disease of artery, disorder of artery ICD9:447.8, ICD9:447.9, DOID:0050828, MEDGEN:208875, NCIT:C35317, SCTID:359557001, UMLS:C0852949 Jaw disease EFO:0009468 http://www.ebi.ac.uk/efo/EFO_0009468 A disease affecting the jaw region, i.e. the part of the head that corresponds to the jaw skeleton, containing soft tissue, skeleton and teeth. - ICD10:K10 Chronic gastritis MONDO:0005001 http://purl.obolibrary.org/obo/MONDO_0005001 Inflammation of the stomach that is chronic in nature. chronic gastritis (disease), chronic gastritis, gastritis (disease), chronic EFO:0000337, HP:0005231, ICD9:535.4, ICD9:535.40, ICD9:535.41, MEDGEN:39089, NCIT:C26929, SCTID:8493009, UMLS:C0085695 Intestinal obstruction MONDO:0004565 http://purl.obolibrary.org/obo/MONDO_0004565 Blockage of the normal flow of the intestinal contents within the bowel. bowel obstruction DOID:8437, ICD9:560.89, ICD9:560.9, MEDGEN:43933, MESH:D007415, NCIT:C9175, SCTID:81060008, UMLS:C0021843 Mouth disorder MONDO:0006858 http://purl.obolibrary.org/obo/MONDO_0006858 A disease involving the mouth. disease or disorder of mouth, disease of mouth, disorder of mouth, mouth disease or disorder, mouth disease, oral disease, oral disorder DOID:403, EFO:1001047, ICD9:528.9, MEDGEN:6448, MESH:D009059, NCIT:C3240, SCTID:118938008, UMLS:C0026636 Esophagitis MONDO:0001409 http://purl.obolibrary.org/obo/MONDO_0001409 An acute or chronic inflammatory disease affecting the esophageal wall. acute esophagitis, inflammation of esophagus, esophagitis (disease), esophagitis, esophagus inflammation, inflammation of oesophagus, oesophagus inflammation DOID:11963, HP:0100633, ICD10CM:K20, ICD9:530.1, ICD9:530.10, ICD9:530.12, MEDGEN:4549, MESH:D004941, NCIT:C9224, SCTID:16761005, UMLS:C0014868, icd11.foundation:1540965840 Duodenitis MONDO:0004627 http://purl.obolibrary.org/obo/MONDO_0004627 Acute or chronic inflammation of the duodenum. Causes include bacterial and viral infections and gastroesophageal reflux disease. Symptoms include vomiting and abdominal pain. duodenitis, duodenum inflammation, hemorrhagic duodenitis, inflammation of duodenum DOID:8643, ICD10CM:K29.8, ICD9:535.6, ICD9:535.60, MEDGEN:4419, MESH:D004382, NCIT:C94409, SCTID:72007001, UMLS:C0013298, icd11.foundation:1595026136 Stomach disorder MONDO:0004298 http://purl.obolibrary.org/obo/MONDO_0004298 A disease involving the stomach. disease or disorder of stomach, disease of stomach, disorder of stomach, stomach disease or disorder, stomach disease, stomach disorder DOID:76, EFO:0009608, ICD9:537.89, ICD9:537.9, MEDGEN:21329, MESH:D013272, NCIT:C26886, SCTID:29384001, UMLS:C0038354, icd11.foundation:1264914040 Umbilical hernia HP:0001537 http://purl.obolibrary.org/obo/HP_0001537 Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect. Umbilical hernias Fyler:4445, SNOMEDCT_US:396347007, UMLS:C0019322 Irritable bowel syndrome MONDO:0005052 http://purl.obolibrary.org/obo/MONDO_0005052 Irritable bowel syndrome (IBS) is a chronic functional condition of the lower gastrointestinal (GI) tract characterized by abdominal pain or discomfort and disordered bowel habit (diarrhea, constipation, or fluctuation between the two). mucus colitis, IBS, irritable bowel syndrome, irritable colon, spastic colon DOID:9778, EFO:0000555, ICD10CM:K58, ICD10WHO:K58, ICD9:564.1, MEDGEN:5897, MESH:D043183, NCIT:C82343, SCTID:10743008, UMLS:C0022104, icd11.foundation:1158238623 Anal fistula MONDO:0000754 http://purl.obolibrary.org/obo/MONDO_0000754 An intestinal disorder characterized by an opening in the anal canal to the perianal skin. In the vast majority of cases there is a history of perianal abscess. anal fistula (disease), anal fistula, anorectal fistula DOID:0060328, GARD:0020568, HP:0010447, ICD10CM:K60.3, MEDGEN:61482, MESH:D012003, NCIT:C60785, Orphanet:228113, SCTID:72779005, UMLS:C0205929, icd11.foundation:206903882 Liver disorder MONDO:0005154 http://purl.obolibrary.org/obo/MONDO_0005154 A disease involving the liver. disease or disorder of liver, hepatic disease, disease of liver, disorder of liver, hepatic disorder, liver and intrahepatic bile duct disorder, liver disease or disorder, liver disease, liver disorder DOID:409, EFO:0001421, ICD10CM:K70-K77, ICD9:573.8, ICD9:573.9, MEDGEN:893061, MESH:D008107, NCIT:C3196, SCTID:235856003, UMLS:C4021780, icd11.foundation:1784240230 Skin disorder MONDO:0005093 http://purl.obolibrary.org/obo/MONDO_0005093 Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs. disease or disorder of zone of skin, genodermatosis, cutaneous disorder, dermatosis, disease of zone of skin, disorder of skin, disorder of zone of skin, skin diseases and manifestations, skin disorder, zone of skin disease or disorder, zone of skin disease DOID:37, EFO:0000701, ICD9:702, ICD9:702.8, ICD9:709.8, MEDGEN:20777, MESH:D012871, NANDO:2100281, NCIT:C3371, SCTID:95320005, UMLS:C0037274 Hypertrophic scar (disorder) SNOMED:19843006 http://snomed.info/id/19843006 Hypertrophic scar Hypertrophic cicatrix, Hypertrophic scar, Hypertrophic scar (disorder) - Prurigo MONDO:0021739 http://purl.obolibrary.org/obo/MONDO_0021739 A name applied to several itchy skin eruptions of unknown cause. The characteristic course is the formation of a dome-shaped papule with a small transient vesicle on top, followed by crusting over or lichenification. (From Dorland, 27th ed) pruritic rash, Itchy skin eruption, Pruritic rash, prurigo ICD9:698.2, ICD9:698.8, MEDGEN:10986, MESH:D011536, SCTID:64144002, UMLS:C0033771, icd11.foundation:268810206 Neurodermatitis MONDO:0006585 http://purl.obolibrary.org/obo/MONDO_0006585 Skin findings arising from repeated rubbing, picking or scratching of a real or imagined irritation of the skin. lichen simplex Chronicus DOID:3309, EFO:1000740, ICD10CM:L28.0, MEDGEN:45056, MESH:D009450, NCIT:C111963, SCTID:267854005, UMLS:C0027822 Pigmentation GO:0043473 http://purl.obolibrary.org/obo/GO_0043473 The accumulation of pigment in an organism, tissue or cell, either by increased deposition or by increased number of cells. - - Seborrheic keratosis MONDO:0008420 http://purl.obolibrary.org/obo/MONDO_0008420 A common benign skin neoplasm usually affecting older individuals. The lesions usually are multiple and arise in the face, chest, and shoulders. They appear as black or brown, slightly elevated skin lesions. keratosis, seborrheic, somatic, basal cell papilloma, keratosis Seborrheica DOID:6498, EFO:0005584, ICD10CM:L82, ICD9:702.1, MEDGEN:5957, MESH:D017492, NCIT:C9006, OMIM:182000, SCTID:398838000, UMLS:C0022603, Wikipedia:Seborrheic_keratosis Hypertrophic condition of skin (disorder) SNOMED:24782002 http://snomed.info/id/24782002 Hypertrophic condition of skin Hypertrophic condition of skin, Hypertrophic condition of skin (disorder), Hypertrophic skin - Granuloma annulare MONDO:0006554 http://purl.obolibrary.org/obo/MONDO_0006554 Granuloma annulare is a long-term (chronic) skin disease consisting of a rash with reddish bumps arranged in a circle or ring. The most commonly affected areas are the forearms, hands and feet. The lesions associated with granuloma annulare usually resolve without treatment. Strong steroids (applied as a cream or injection) are sometimes used to clear the rash more quickly. Most symptoms will disappear within 2 years (even without treatment), but recurrence is common. The underlying cause of granuloma annulare is unknown. granuloma annulare DOID:3777, EFO:1000704, ICD10CM:L92.0, ICD9:709.8, MEDGEN:88319, MESH:D016460, NCIT:C3470, SCTID:65508009, UMLS:C0085074, Wikipedia:Granuloma_annulare, icd11.foundation:1925637202 Achilles tendon injury EFO:0600078 http://www.ebi.ac.uk/efo/EFO_0600078 Any injury to the Achilles tendon, including bursitis, tendinitis, rupture or degeneration. - PMID:33606446 Ureter leiomyoma HP:0025004 http://purl.obolibrary.org/obo/HP_0025004 Hallux rigidus is characterized by arthralgia, which is usually worsened by walking. With time the joint enlarges and the symptoms become more pronounced with pain at the dorsal bony prominence of the first metatarsophalengeal joint (MTPJ) and decreased range of motion, especially dorsiflexion. In this process the destruction of the cartilage commonly starts at the dorsal portion of the metatarsal head and the bony prominence might impinge against the proximal phalanx.. Physical examination usually shows a painful, tender and swollen first MTPJ with limited motion and pain usually when dorsiflexed. Typical radiographic findings are asymmetric joint narrowing and a flattened metatarsal head. With advancement of the disease more of the joint surface is involved and subchondral cysts, sclerosis and bony proliferation at the joint margins occur and the joint narrowing progresses [PMID:24649409]. Arthritis of the big toe SNOMEDCT_US:6654000, UMLS:C0264134 Osteoporosis MONDO:0005298 http://purl.obolibrary.org/obo/MONDO_0005298 A condition of reduced bone mass, with decreased cortical thickness and a decrease in the number and size of the trabeculae of cancellous bone (but normal chemical composition), resulting in increased fracture incidence. Osteoporosis is classified as primary (Type 1, postmenopausal osteoporosis; Type 2, age-associated osteoporosis; and idiopathic, which can affect juveniles, premenopausal women, and middle-aged men) and secondary osteoporosis (which results from an identifiable cause of bone mass loss). bone mineral density quantitative trait locus, osteoporosis, involutional, osteoporosis, postmenopausal DOID:11476, EFO:0003882, ICD10CM:M81, ICD9:733.0, ICD9:733.00, ICD9:733.09, MEDGEN:14535, MESH:D010024, NCIT:C3298, OMIM:166710, SCTID:64859006, UMLS:C0029456, icd11.foundation:2113001430 Plantar fibromatosis MONDO:0004684 http://purl.obolibrary.org/obo/MONDO_0004684 A superficial fibromatosis arising from soft tissue of the plantar regions. It is characterized by the presence of spindle-shaped fibroblasts, hypercellularity, and an infiltrative growth pattern. Ledderhose's disease, Lederhose disease, plantar fibromatosis, plantar part of pes superficial Fibromatosis, plantar part of pes superficial fibromatosis, superficial fibromatosis of plantar part of pes DOID:8936, EFO:1000481, GARD:0006873, ICD9:728.71, MEDGEN:56385, MESH:C537000, MedDRA:10035154, NCIT:C4680, Orphanet:199251, SCTID:13370002, UMLS:C0158360, icd11.foundation:409482033 Bone disorder MONDO:0005381 http://purl.obolibrary.org/obo/MONDO_0005381 Diseases of bones. disease or disorder of bone element, bone element disease or disorder, bone element disease, disease of bone element, disorder of bone element DOID:0080001, EFO:0004260, ICD10CM:M80-M85, ICD9:731.8, ICD9:733.99, MEDGEN:14182, MESH:D001847, NANDO:2100291, NANDO:2100293, SCTID:76069003, UMLS:C0005940 Glomerular disorder MONDO:0019722 http://purl.obolibrary.org/obo/MONDO_0019722 A disease involving the renal glomerulus. disease or disorder of renal glomerulus, disease of renal glomerulus, disorder of renal glomerulus, glomerulopathies, glomerulopathy, renal glomerulus disease or disorder, renal glomerulus disease GTR:AN0966176, EFO:1002049, ICD10CM:N00-N08, MEDGEN:451033, NCIT:C120887, Orphanet:93548, SCTID:197679002, UMLS:C0268731 Spermatocele MONDO:0006977 http://purl.obolibrary.org/obo/MONDO_0006977 A benign testicular cyst that is located in the epididymis, and which contains serous fluid, lymphocytes, spermatozoa, and debris. - DOID:11997, EFO:1001189, ICD10CM:N43.4, ICD9:608.1, MEDGEN:20857, MESH:D013088, MedDRA:10041490, SCTID:49263001, UMLS:C0037859, icd11.foundation:1907004531 Acute female pelvic peritonitis MONDO:0004940 http://purl.obolibrary.org/obo/MONDO_0004940 - - DOID:9978, ICD10CM:N73.3, ICD9:614.5, MEDGEN:541683, SCTID:85051008, UMLS:C0269032 Vaginal disorder MONDO:0001433 http://purl.obolibrary.org/obo/MONDO_0001433 A non-neoplastic or neoplastic disorder that affects the vagina. Representative examples include vaginal infection, vaginal polyp, and vaginal squamous cell carcinoma. disease or disorder of vagina, disease of vagina, disorder of vagina, vagina disease or disorder, vagina disease, vaginal disease, vaginal disorder DOID:121, MEDGEN:12042, MESH:D014623, NCIT:C26910, SCTID:25658005, UMLS:C0042251 Hypertension, pregnancy-induced MONDO:0024664 http://purl.obolibrary.org/obo/MONDO_0024664 A hypertensive disorder that develops during pregnancy. gestational hypertension, hypertension associated disorders of pregnancy, hypertension, gestational, hypertension, pregnancy induced, hypertension, pregnancy transient, hypertension-associated pregnancy disorder, hypertensions, pregnancy induced, induced Hypertensions, pregnancy, induced hypertension, pregnancy, pregnancy induced hypertension, pregnancy transient hypertension, pregnancy-induced hypertension, transient hypertension, pregnancy MEDGEN:852894, MESH:D046110, NCIT:C9243, SCTID:48194001, UMLS:C0852036 Congenital deformities of limbs MONDO:0017427 http://purl.obolibrary.org/obo/MONDO_0017427 - - GARD:0021181, MEDGEN:60222, MedDRA:10024500, Orphanet:294944, UMLS:C0206762 Respiratory system disorder MONDO:0005087 http://purl.obolibrary.org/obo/MONDO_0005087 A non-neoplastic or neoplastic disorder that affects the respiratory system. Representative examples include pneumonia, chronic obstructive pulmonary disease, pulmonary failure, lung adenoma, lung carcinoma, and tracheal carcinoma. disease or disorder of respiratory system, respiratory disease, disease of respiratory system, disorder of respiratory system, respiratory disorder, respiratory system disease or disorder, respiratory system disease, respiratory system disorder DOID:1579, EFO:0000684, ICD10CM:J00-J99, ICD9:460-519, ICD9:500-508, ICD9:503, ICD9:508, ICD9:508.1, ICD9:508.8, ICD9:508.9, ICD9:510-519, ICD9:516, ICD9:516.8, ICD9:516.9, ICD9:517, ICD9:517.8, ICD9:519, ICD9:519.1, ICD9:519.3, ICD9:519.8, ICD9:519.9, ICD9:V12.60, ICD9:V47.2, MEDGEN:48421, MESH:D012140, NANDO:1100010, NCIT:C26871, SCTID:50043002, UMLS:C0035204 Pain HP:0012531 http://purl.obolibrary.org/obo/HP_0012531 An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage. Pain SNOMEDCT_US:22253000, UMLS:C0030193 Urinary incontinence GSSO:005558 http://purl.obolibrary.org/obo/GSSO_005558 Involuntary passage of urine outside the body. incontinence of urine, incontinence urinary, urine incontinence, other specified urinary incontinence, other urinary incontinence, urinary incontinence, unspecified https://en.wikipedia.org/wiki/Urinary_incontinence, https://www.wikidata.org/wiki/Q281490 Malaise and fatigue SNOMED:271795006 http://snomed.info/id/271795006 Malaise and fatigue Malaise and fatigue, Malaise and fatigue (finding) - Syncope and collapse (finding) SNOMED:309585006 http://snomed.info/id/309585006 Syncope and collapse Syncope and collapse, Syncope and collapse (finding) - Neuropathy, small fiber MONDO:0800207 http://purl.obolibrary.org/obo/MONDO_0800207 - SFNP GARD:0026482, MEDGEN:478336, SCTID:709489006, UMLS:C3276706 Proctitis MONDO:0005538 http://purl.obolibrary.org/obo/MONDO_0005538 An inflammatory process affecting the anus. It is usually caused by sexually transmitted infectious agents and/or inflammatory bowel disease. inflammation of anus, rectitis, anus inflammation DOID:3127, EFO:0005628, ICD9:569.49, MEDGEN:46113, MESH:D011349, NCIT:C38011, SCTID:3951002, UMLS:C0033246 Retinol amount OBA:1000995 http://purl.obolibrary.org/obo/OBA_1000995 The amount of a retinol when measured in anatomical entity. retinol amount, anatomical entity retinol amount - Prospective memory NBO:0000192 http://purl.obolibrary.org/obo/NBO_0000192 Remembering to perform an intended action. prospective memory function - Lactose-free diet (regime/therapy) SNOMED:425458000 http://snomed.info/id/425458000 Lactose-free diet Lactose-free diet, Lactose-free diet (regime/therapy) - Rheumatoid factor measurement EFO:0005767 http://www.ebi.ac.uk/efo/EFO_0005767 quantification of rheumatoid factors, antibodies in the serum of individuals with rheumatoid arthritis that react with antigenic determinants or immunoglobulins that enhance agglutination of suspended particles coated with pooled human gamma -globulin. Rheumatoid factors also occur in other autoimmune and certain infectious diseases. - NCIt:C74717, SNOMEDCT:54921001 Atherosclerotic coronary heart disease CVDO:0000293 http://purl.obolibrary.org/obo/CVDO_0000293 Coronary heart disease caused by atherosclerosis, characterized by the narrowing of the coronary arteries due to plaque buildup. atherosclerotic CAD, coronary atherosclerosis DOID:3393, ICD10:I25.1 Age of death HP:0011420 http://purl.obolibrary.org/obo/HP_0011420 The age group when the cessation of life happens. - UMLS:C1546180 Memory performance EFO:0005606 http://www.ebi.ac.uk/efo/EFO_0005606 A reported family history of breast cancer in one or more family members. breast cancer family history, family history of breast carcinoma - Gastroenteritis MONDO:0002269 http://purl.obolibrary.org/obo/MONDO_0002269 An inflammatory disorder that affects the upper and lower gastrointestinal tract. Most commonly, this is attributed to viruses; however bacteria, parasites or adverse reactions can also be the culprit. Symptoms include acute diarrhea and vomiting. infectious colitis, enteritis and gastroenteritis, inflammation of intestine, intestine inflammation DOID:2326, EFO:1001463, ICD9:558.9, MEDGEN:8967, MESH:D005759, NCIT:C34632, SCTID:25374005, UMLS:C0017160 Laryngeal neoplasm MONDO:0021071 http://purl.obolibrary.org/obo/MONDO_0021071 A benign or malignant neoplasm involving the larynx. laryngeal tumor, tumor of the larynx, laryngeal neoplasm, laryngeal tumour, larynx neoplasm (disease), larynx neoplasm, larynx tumor, larynx tumour, neoplasm of larynx, neoplasm of the larynx, tumor of larynx, tumour of larynx, tumour of the larynx EFO:0003817, MEDGEN:7271, MESH:D007822, NCIT:C3156, SCTID:126692004, UMLS:C0023055 Myeloid leukemia MONDO:0004643 http://purl.obolibrary.org/obo/MONDO_0004643 A clonal proliferation of myeloid cells and their precursors in the bone marrow, peripheral blood, and spleen. When the proliferating cells are immature myeloid cells and myeloblasts, it is called acute myeloid leukemia. When the proliferating myeloid cells are neutrophils, it is called chronic myelogenous leukemia. leukaemia granulocytic, leukaemia myeloid, leukemia granulocytic, leukemia myelogenous, leukemia myeloid, leukemia, granulocytic, malignant, myelocytic leukaemia, myelocytic leukemia, myelogenous leukaemia, myelogenous leukemia, myeloid leukemia, non-lymphoblastic leukaemia, non-lymphoblastic leukemia, non-lymphocytic leukaemia, non-lymphocytic leukemia DOID:8692, GARD:0008226, ICD10CM:C92, ICD9:205, ICD9:205.80, ICD9:205.9, ICD9:205.90, ICDO:9860/3, MEDGEN:7320, MESH:D007951, NCIT:C3172, SCTID:188732008, UMLS:C0023470 Urinary bladder cancer MONDO:0001187 http://purl.obolibrary.org/obo/MONDO_0001187 A primary or metastatic malignant neoplasm involving the bladder. bladder cancer, somatic, tumor of the bladder, cancer of urinary bladder, malignant bladder neoplasm, malignant bladder tumor, malignant bladder tumour, malignant neoplasm of bladder, malignant neoplasm of the bladder, malignant neoplasm of the urinary bladder, malignant neoplasm of urinary bladder, malignant neoplasm, bladder, malignant neoplasm, urinary bladder, malignant tumor of bladder, malignant tumor of the bladder, malignant tumor of the urinary bladder, malignant tumor of urinary bladder, malignant tumor, urinary bladder, malignant tumour of bladder, malignant tumour of the bladder, malignant tumour of the urinary bladder, malignant tumour of urinary bladder, malignant urinary bladder neoplasm, malignant urinary bladder tumor, malignant urinary bladder tumour, tumour of the bladder, urinary bladder cancer, urinary bladder malignant neoplasm, urinary bladder malignant tumor, urinary bladder malignant tumour DOID:11054, ICD10CM:C67, ICD9:188, ICD9:188.8, ICD9:188.9, MEDGEN:14150, NCIT:C9334, OMIM:109800, Orphanet:157980, SCTID:399326009, UMLS:C0005684, icd11.foundation:1244512758 Hodgkins lymphoma MONDO:0004952 http://purl.obolibrary.org/obo/MONDO_0004952 A heterogeneous group of malignant lymphoid neoplasms of B-cell origin characterized histologically by the presence of Hodgkin and Reed-Sternberg (HRS) cells in the vast majority of cases. There are two distinct subtypes: nodular lymphocyte predominant Hodgkin lymphoma and classical Hodgkin lymphoma. Hodgkin lymphoma involves primarily lymph nodes. stage I subdiaphragmatic Hodgkin lymphoma, stage II subdiaphragmatic Hodgkin lymphoma, HL, Hodgkin disease, Hodgkin lymphoma, Hodgkin's Disease, Hodgkin's disease, Hodgkin's lymphoma, Hodgkin's sarcoma, lymphoma, Hodgkin's DOID:8567, EFO:0000183, GARD:0002714, ICD10CM:C81, ICD9:201, ICD9:201.0, ICD9:201.1, ICD9:201.2, ICD9:201.9, ICD9:201.90, ICDO:9650/3, MESH:D006689, NANDO:2200024, NCIT:C9357, NORD:1246, ONCOTREE:HL, Orphanet:98293, icd11.foundation:1528863768 Plasma cell myeloma MONDO:0009693 http://purl.obolibrary.org/obo/MONDO_0009693 A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001) multiple myeloma, resistance to, Somatic mutation, multiple myeloma, susceptibility to, Somatic mutation, Kahler disease, Kahler's disease, Multiple Myeloma, medullary plasmacytoma, multiple myeloma, multiple myeloma/plasma cell myeloma, myeloid neoplasm of plasma cell, myeloma - multiple, myeloma, myeloma, multiple, myeloma, plasma cell, malignant, myelomatosis, plasma cell myeloid neoplasm, plasma cell myeloma DOID:9538, EFO:0001378, GARD:0007108, ICD10CM:C90.0, ICD9:203.0, ICDO:9732/3, MEDGEN:10122, MESH:D009101, MedDRA:10028228, NCIT:C3242, NORD:1469, OMIM:254500, ONCOTREE:PCM, Orphanet:29073, UMLS:C0026764, icd11.foundation:1582389689, icd11.foundation:526287100 Purpura HP:0000979 http://purl.obolibrary.org/obo/HP_0000979 Depending on their size, purpuric lesions are traditionally classified as petechiae (pinpoint hemorrhages less than 2 mm in greatest diameter), purpura (2 mm to 1 cm) or ecchymoses (more than 1 cm). Blood spots, Red or purple spots on the skin SNOMEDCT_US:12393003, SNOMEDCT_US:387778001, SNOMEDCT_US:423902002, UMLS:C0034150 Myelodysplastic syndrome MONDO:0018881 http://purl.obolibrary.org/obo/MONDO_0018881 A clonal hematopoietic disorder characterized by dysplasia and ineffective hematopoiesis in one or more of the hematopoietic cell lines. The dysplasia may be accompanied by an increase in myeloblasts, but the number is less than 20%, which, according to the WHO guidelines, is the requisite threshold for the diagnosis of acute myeloid leukemia. It may occur de novo or as a result of exposure to alkylating agents and/or radiotherapy. (WHO, 2001) hematopoeitic - myelodysplastic syndrome (MDS), myelodysplastic syndrome, somatic, MDS, MDS, unclassifiable, MDS-U, Myelodysplastic Syndromes, dysmyelopoietic syndrome, myelodysplasia, myelodysplastic neoplasm, myelodysplastic syndrome, myelodysplastic syndrome, unclassifiable, myelodysplastic syndrome/neoplasm, myelodysplastic syndromes, oligoblastic leukaemia, oligoblastic leukemia, preleukemia, smoldering leukemia, smouldering leukaemia DOID:0050908, EFO:0000198, GARD:0007132, ICD10CM:D46, ICD9:238.7, ICD9:238.75, ICDO:9989/3, MEDGEN:483005, MedDRA:10028532, NANDO:2100003, NANDO:2200019, NCIT:C3247, NORD:1480, OMIM:614286, ONCOTREE:MDS, Orphanet:52688, SCTID:109995007, UMLS:C3463824 Aplastic anaemias HP:0001915 http://purl.obolibrary.org/obo/HP_0001915 Aplastic anemia is characterized by reduced numbers of all blood cell types (red blood cells, white blood cells, and platelets) owing to reduced production. Aplastic anaemia SNOMEDCT_US:304132006, SNOMEDCT_US:306058006, UMLS:C0002874 Autoimmune thrombocytopenic purpura MONDO:0008558 http://purl.obolibrary.org/obo/MONDO_0008558 An autoimmune disorder in which the number of circulating platelets is reduced due to their antibody-mediated destruction. ITP is a diagnosis of exclusion and is heterogeneous in origin. immune thrombocytopenia, AITP, ITP, autoimmune thrombocytopenic purpura, idiopathic thrombocytopenia purpura, idiopathic thrombocytopenia, idiopathic thrombocytopenic purpura, thrombocytopenic purpura autoimmune, thrombocytopenic purpura, autoimmune DOID:8924, EFO:0007160, GARD:0005194, ICD10CM:D69.3, ICD9:287.31, MEDGEN:584986, MedDRA:10021245, NANDO:1200315, NANDO:2200645, NCIT:C3446, OMIM:188030, Orphanet:3002, UMLS:C0398650, icd11.foundation:364346400 Adenomyosis MONDO:0010888 http://purl.obolibrary.org/obo/MONDO_0010888 Editor note: NCIT does not classify as a subtype of endometriosis endometriosis (disease) of myometrium, adenomyosis of the uterus, adenomyosis of uterus, endometriosis interna, endometriosis of myometrium, endometriosis of uterus, endometriosis, myometrium, myometrium endometriosis (disease), uterine adenomyosis, uterine corpus adenomyosis, uterus corpus adenomyosis DOID:288, ICD10CM:N80.0, ICD9:617.0, MEDGEN:1805484, MESH:D062788, NCIT:C6996, OMIM:600458, SCTID:237115002, UMLS:C5574708, icd11.foundation:171294592 Concussion EFO:0011023 http://www.ebi.ac.uk/efo/EFO_0011023 A concussion, also known as a mild traumatic brain injury (mTBI), is a head injury that temporarily affects brain functioning. It is usually caused by a bump, blow or jolt to the head. brain concussion, mTBI, mild TBI, mild traumatic brain injury NCIT:C50502, OMIT:0003280, PMID:33017352 Cerebral palsy MONDO:0006497 http://purl.obolibrary.org/obo/MONDO_0006497 A group of disorders affecting the development of movement and posture, often accompanied by disturbances of sensation, perception, cognition, and behavior. It results from damage to the fetal or infant brain. infantile cerebral palsy CSP:0723-4729, DOID:1969, EFO:1000632, HP:0100021, ICD10CM:G80, ICD10WHO:G80, ICD9:343.8, ICD9:343.9, MEDGEN:854, MESH:D002547, NCIT:C34460, SCTID:128188000, UMLS:C0007789, icd11.foundation:76906748 Muscular disease EFO:0002970 http://www.ebi.ac.uk/efo/EFO_0002970 A muscular disease in which the muscle fibers do not function resulting in muscular weakness. MUSCLE DIS, MUSCULAR DIS, Muscle Disorder, Muscle Disorders, Muscular Diseases, Myopathic Condition, Myopathic Conditions DOID:0080000, ICD10:G71, ICD10:M62, MESH:D009135 Trigeminal neuralgia MONDO:0008599 http://purl.obolibrary.org/obo/MONDO_0008599 Trigeminal neuralgia is a nerve disorder that causes a stabbing or electric-shock-like pain in parts of the face. The pain lasts a few seconds to a few minutes, and usually on only one side of the face. It can also cause muscle spasms in the face the same time as the pain. The pain may result from a blood vessel pressing against the trigeminal nerve (the nerve that carries pain, feeling, and other sensations from the brain to the skin of theface), as a complication of multiple sclerosis, or due to compression of the nerve by a tumor or cyst. In some cases, the cause is unknown. Treatment options include medicines, surgery, and complementary approaches. neuralgia of trigeminal nerve, trigeminal nerve neuralgia, trigeminal neuralgia DOID:12098, EFO:1001219, GARD:0007805, ICD10CM:G50.0, ICD9:350.1, MEDGEN:21683, MESH:D014277, MedDRA:10044652, NORD:1791, OMIM:190400, Orphanet:221091, SCTID:31681005, UMLS:C0040997, icd11.foundation:1803581281 Hemiplegia MONDO:0001170 http://purl.obolibrary.org/obo/MONDO_0001170 Severe or complete loss of motor function on one side of the body. This condition is usually caused by brain diseases that are localized to the cerebral hemisphere opposite to the side of weakness. Less frequently, brain stem lesions; cervical spinal cord diseases; peripheral nervous system diseases; and other conditions may manifest as hemiplegia. The term hemiparesis (see paresis) refers to mild to moderate weakness involving one side of the body. - DOID:10969, EFO:0009453, ICD10WHO:G81, ICD9:343.4, MEDGEN:9196, MESH:D006429, SCTID:1593000, UMLS:C0018991, icd11.foundation:1641958762 Corneal disorder MONDO:0000942 http://purl.obolibrary.org/obo/MONDO_0000942 A non-neoplastic or neoplastic disorder that affects the cornea. Representative examples include keratitis, bullous keratopathy, and squamous cell carcinoma. disease or disorder of cornea, cornea disease or disorder, cornea disease, corneal disease, corneal disorder, disease of cornea, disorder of cornea DOID:10124, EFO:0009464, ICD9:371.30, ICD9:371.89, ICD9:371.9, MEDGEN:3617, MESH:D003316, NCIT:C26731, SCTID:15250008, UMLS:C0010034, icd11.foundation:980864631 Retinal artery occlusion MONDO:0002089 http://purl.obolibrary.org/obo/MONDO_0002089 An occlusion of the retinal vasculature. retinal vascular occlusion, retinal vascular occlusion, unspecified DOID:1729, ICD10CM:H34, ICD9:362.3, ICD9:362.30, MEDGEN:19762, NCIT:C34980, SCTID:73757007, UMLS:C0035326 Cholesteatoma of middle ear MONDO:0006533 http://purl.obolibrary.org/obo/MONDO_0006533 A non-neoplastic lesion characterized by the proliferation of keratinizing squamous epithelium in the middle ear that results in the accumulation of keratin and cells. It is usually caused by repeated infections. If left untreated, it may increase in size and destroy the adjacent delicate bones of the middle ear. cholesteatoma (disease) of middle ear, unspecified cholesteatoma (morphologic abnormality), Epidermosis of ear, Epidermosis of middle ear, cholesteatoma of middle ear and mastoid, cholesteatoma of middle ear, cholesteatoma of the middle ear, middle ear cholesteatoma (disease), middle ear cholesteatoma DOID:10964, EFO:1000678, ICD10CM:H71, ICD10WHO:H71, ICD9:385.3, ICD9:385.32, ICD9:385.33, MEDGEN:57836, MESH:D018424, NCIT:C3654, SCTID:194339007, UMLS:C0155490, icd11.foundation:2134365487 Tympanic membrane disorder MONDO:0003648 http://purl.obolibrary.org/obo/MONDO_0003648 A disease involving the tympanic membrane. disease or disorder of tympanic membrane, disease of tympanic membrane, disorder of tympanic membrane, tympanic membrane disease or disorder, tympanic membrane disease DOID:5782, EFO:0009570, ICD9:384.9, MEDGEN:508258, SCTID:21426000, UMLS:C0041825 Otosclerosis MONDO:0005349 http://purl.obolibrary.org/obo/MONDO_0005349 Formation of spongy bone in the labyrinth capsule which can progress toward the stapes (stapedial fixation) or anteriorly toward the cochlea leading to conductive, sensorineural, or mixed hearing loss. Several genes are associated with familial otosclerosis with varied clinical signs. otosclerosis (disease), otosclerosis DOID:12185, EFO:0004213, GARD:0027719, HP:0000362, ICD10CM:H80, ICD10WHO:H80, ICD9:387, ICD9:387.8, ICD9:387.9, MEDGEN:10508, MESH:D010040, NCIT:C185242, OMIMPS:166800, Orphanet:2794, SCTID:11543004, UMLS:C0029899, icd11.foundation:1242649410 Cardiac arrest MONDO:0000745 http://purl.obolibrary.org/obo/MONDO_0000745 Cessation of breathing and/or cardiac function. circulatory arrest DOID:0060319, ICD10CM:I46, ICD10WHO:I46, ICD9:427.5, MEDGEN:5456, MESH:D006323, SCTID:410429000, UMLS:C0018790, icd11.foundation:395422191 Heart disorder MONDO:0005267 http://purl.obolibrary.org/obo/MONDO_0005267 A disease involving the heart and/or pericardium. cardiac disease, disease or disorder of heart, disease of heart, disorder of heart, disorder of heart/pericardium, heart disease or disorder, heart disease, heart disorder, heart trouble, heart/pericardial disease or disorder, heart/pericardial disease, heart/pericardial disorder, heart/pericardial trouble DOID:114, EFO:0003777, ICD9:429.89, ICD9:429.9, ICD9:V47.2, MEDGEN:5458, MESH:D006331, NCIT:C3079, SCTID:56265001, UMLS:C0018799, icd11.foundation:1512587470 Subarachnoid haemorrhage MONDO:0005099 http://purl.obolibrary.org/obo/MONDO_0005099 A serious neurological disorder characterized by intracranial hemorrhage into the subarachnoid space. subarachnoid haemorrhage (disease), subarachnoid hemorrhage (disease), subarachnoid hemorrhage EFO:0000713, HP:0002138, ICD9:430, MEDGEN:11625, MESH:D013345, SCTID:21454007, UMLS:C0038525, icd11.foundation:1363253283 Intracranial berry aneurysm MONDO:0016483 http://purl.obolibrary.org/obo/MONDO_0016483 An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm. aneurysm, intracranial berry, familial aneurysmal subarachnoid haemorrhage, familial berry aneurysm, familial intracranial saccular aneurysm DOID:0060228, GARD:0017161, HP:0007029, MEDGEN:825711, OMIMPS:105800, Orphanet:231160, SCTID:703226008, UMLS:C3839866, icd11.foundation:59881644 Embedded teeth SNOMED:196419009 http://snomed.info/id/196419009 Embedded teeth Embedded teeth, Embedded teeth (disorder) - Gingival disorder MONDO:0002021 http://purl.obolibrary.org/obo/MONDO_0002021 A disease involving the gingiva. disease or disorder of gingiva, disease of gingiva, disorder of gingiva, gingiva disease or disorder, gingiva disease DOID:1483, EFO:0009670, MEDGEN:42217, MESH:D005882, NCIT:C173795, SCTID:18718003, UMLS:C0017563 Sclerosing cholangitis MONDO:0018646 http://purl.obolibrary.org/obo/MONDO_0018646 A chronic, autoimmune inflammatory liver disorder characterized by narrowing and scarring of the lumen of the bile ducts. It is often seen in patients with ulcerative colitis. Signs and symptoms include jaundice, fatigue, and malabsorption. It may lead to cirrhosis and liver failure. sclerosing cholangitis (disease), sclerosing cholangitis DOID:14268, EFO:0004268, GARD:0021868, HP:0030991, MEDGEN:3036, NANDO:1200440, NANDO:2100265, Orphanet:447771, SCTID:235917005, UMLS:C0008313 Gastrointestinal hemorrhage HP:0002239 http://purl.obolibrary.org/obo/HP_0002239 Hemorrhage affecting the gastrointestinal tract. GI haemorrhage, GI hemorrhage, Gastrointestinal bleeding, Gastrointestinal haemorrhage SNOMEDCT_US:74474003, UMLS:C0017181 Esophageal ulcer MONDO:0044782 http://purl.obolibrary.org/obo/MONDO_0044782 An ulcerated lesion in the esophageal wall. esophagus ulcer, esophageal ulcer, esophagus ulcer disease, oesophagus ulcer disease, oesophagus ulcer, ulcer disease of esophagus, ulcer disease of oesophagus HP:0004791, MEDGEN:56254, NCIT:C26950, UMLS:C0151970 Gastric ulcer MONDO:0001126 http://purl.obolibrary.org/obo/MONDO_0001126 An ulcerated lesion in the mucosal surface of the stomach. It may progress to involve the deeper layers of the gastric wall. acute gastric ulcer with hemorrhage and obstruction, acute gastric ulcer with hemorrhage and perforation, acute gastric ulcer with hemorrhage and perforation, with obstruction, acute gastric ulcer with hemorrhage and perforation, without mention of obstruction, acute gastric ulcer with hemorrhage and with perforation but without obstruction, acute gastric ulcer with hemorrhage, with obstruction, acute gastric ulcer with hemorrhage, with perforation and with obstruction, acute gastric ulcer with perforation and obstruction, acute gastric ulcer with perforation, acute gastric ulcer with perforation, with obstruction, acute gastric ulcer without hemorrhage and without perforation, acute gastric ulcer without hemorrhage, without perforation and without obstruction, acute gastric ulcer without mention of hemorrhage or perforation, without mention of obstruction, bleeding acute gastric ulcer, chronic gastric ulcer without hemorrhage and without perforation but with obstruction, chronic gastric ulcer without hemorrhage and without perforation, chronic gastric ulcer without mention of hemorrhage or perforation, with obstruction, acute gastric ulcer with haemorrhage and obstruction, acute gastric ulcer with haemorrhage and perforation, acute gastric ulcer with haemorrhage and perforation, with obstruction, acute gastric ulcer with haemorrhage and perforation, without mention of obstruction, acute gastric ulcer with haemorrhage and with perforation but without obstruction, acute gastric ulcer without haemorrhage and without perforation, acute gastric ulcer without mention of haemorrhage or perforation, without mention of obstruction, chronic gastric ulcer without haemorrhage and without perforation but with obstruction, chronic gastric ulcer without haemorrhage and without perforation, chronic gastric ulcer without mention of haemorrhage or perforation, with obstruction, gastric ulcer (disease), gastric ulcer, peptic ulcer disease of stomach, stomach peptic ulcer disease DOID:10808, EFO:0009454, HP:0002592, ICD10CM:K25, ICD10WHO:K25, ICD9:531, MEDGEN:21330, MESH:D013276, NCIT:C3388, SCTID:397825006, UMLS:C0038358, icd11.foundation:1437411258 Colitis MONDO:0005292 http://purl.obolibrary.org/obo/MONDO_0005292 Inflammation of the colon. colitis (disease), colitis, colon inflammation, inflammation of colon DOID:0060180, EFO:0003872, HP:0002583, ICD9:558.9, MEDGEN:40385, MESH:D003092, NCIT:C26723, SCTID:64226004, UMLS:C0009319, icd11.foundation:1870792958 Ischemic bowel disorder MONDO:0020675 http://purl.obolibrary.org/obo/MONDO_0020675 Disease of the large or small intestine that is caused by inadequate blood supply. ischaemic bowel disease, ischemic bowel disease MEDGEN:412148, NCIT:C35212, UMLS:C2004435 Gallbladder disorder MONDO:0005281 http://purl.obolibrary.org/obo/MONDO_0005281 A disease involving the gall bladder. disease or disorder of gall bladder, Gall bladder disorder, disease of gall bladder, disorder of gall bladder, gall bladder disease or disorder, gall bladder disease, gallbladder disorder DOID:0060262, EFO:0003832, ICD10CM:K82, ICD9:575.8, ICD9:575.9, MEDGEN:8947, MESH:D005705, NCIT:C34631, SCTID:39621005, UMLS:C0016977 Lichen planus MONDO:0006572 http://purl.obolibrary.org/obo/MONDO_0006572 A chronic, recurrent, pruritic inflammatory disorder of unknown etiology that affects the skin and mucus membranes. It presents with rashes and papules that tend to resolve spontaneously. It may be associated with hepatitis C. Certain drugs that contain arsenic or bismuth are associated with reactions mimicking lichen planus. lichen ruber planus DOID:9201, EFO:1000726, ICD10CM:L43, ICD10WHO:L43, ICD9:697.0, MEDGEN:9753, MESH:D008010, NCIT:C3189, SCTID:4776004, UMLS:C0023646, icd11.foundation:1402978031 Erythema HP:0010783 http://purl.obolibrary.org/obo/HP_0010783 Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin. Redness of skin or mucous membrane SNOMEDCT_US:20255002, SNOMEDCT_US:238810007, SNOMEDCT_US:247441003, SNOMEDCT_US:271811009, SNOMEDCT_US:444827008, SNOMEDCT_US:70819003, SNOMEDCT_US:86735004, UMLS:C0016382, UMLS:C0041834 Limb pain HP:0009763 http://purl.obolibrary.org/obo/HP_0009763 Chronic pain in the limbs with no clear focal etiology. Limb pain, Pain in extremities SNOMEDCT_US:90834002, UMLS:C0030196 Recurrent joint dislocation HP:0031869 http://purl.obolibrary.org/obo/HP_0031869 Dislocation of a given joint repeated times. Recurrent joint dislocations - Rotator cuff syndrome MONDO:0007028 http://purl.obolibrary.org/obo/MONDO_0007028 Tear of one or more of the tendons of the four rotator cuff muscles of the shoulder. A rotator cuff 'injury' can include any type of irritation or overuse of those muscles or tendons, and is among the most common conditions affecting the shoulder. - EFO:1001250, ICD10CM:M75.1, ICD10WHO:M75.1, ICD9:726.10, MEDGEN:538186, SCTID:4106009, UMLS:C0263912, Wikipedia:Rotator_cuff_tear, icd11.foundation:1471943310 Osteomyelitis MONDO:0005246 http://purl.obolibrary.org/obo/MONDO_0005246 An acute or chronic inflammation of the bone and its structures due to infection with pyogenic bacteria. osteomyelitis (disease), osteomyelitis DOID:1019, EFO:0003102, GARD:0007286, HP:0002754, ICD10CM:M86, ICD10WHO:M86, ICD9:730.0, ICD9:730.01, ICD9:730.1, ICD9:730.10, ICD9:730.11, ICD9:730.20, ICD9:730.28, ICD9:730.92, ICD9:730.93, ICD9:730.94, ICD9:730.96, ICD9:730.97, MEDGEN:10497, MESH:D010019, NCIT:C27577, SCTID:60168000, UMLS:C0029443 Urinary tract obstruction MONDO:0003330 http://purl.obolibrary.org/obo/MONDO_0003330 Blockage of the normal flow of contents of the urinary tract. obstructive uropathy, urinary obstruction DOID:5200, EFO:0009571, ICD9:599.6, ICD9:599.60, MEDGEN:64247, NANDO:2200178, NCIT:C3675, SCTID:7163005, UMLS:C0178879 Renal colic EFO:1001412 http://www.ebi.ac.uk/efo/EFO_1001412 A severe intermittent and spasmodic pain in the lower back radiating to the groin, scrotum, and labia which is most commonly caused by a kidney stone (RENAL CALCULUS) passing through the URETER or by other urinary track blockage. It is often associated with nausea, vomiting, fever, restlessness, dull pain, frequent urination, and HEMATURIA. - ICD10:N23, MESH:D056844, MedDRA:10038419, NCIt:C78593, SNOMEDCT:7093002 Hypertrophy of breast MONDO:0001100 http://purl.obolibrary.org/obo/MONDO_0001100 Excessive enlargement of one or both breasts. Causes include pregnancy, obesity, and penicillamine therapy. It may result in neck, back, and shoulder pain. breast Hypertrophy, drug-induced gigantomastia (subtype), gestational gigantomastia (subtype), gigantomastia, hypertrophy of the breast, idiopathic gigantomastia (subtype), juvenile gigantomastia (subtype), macromastia, medication-induced gigantomastia (subtype), pregnancy-induced gigantomastia (subtype), puberty-induced gigantomastia (subtype) DOID:10688, ICD10CM:N62, ICD10WHO:N62, ICD9:611.1, MEDGEN:43789, NCIT:C3125, SCTID:372281005, UMLS:C0020565, icd11.foundation:2078176266 Vaginal inflammation EFO:0005757 http://www.ebi.ac.uk/efo/EFO_0005757 local accumulation of fluid, plasma proteins, and leukocytes in the vagina vaginitis DOID:2170, ICD10:N76, MESH:D014627, MP:0003541, MedDRA:10046916, MedDRA:10046950, NCIt:C26911, SNOMEDCT:30800001 Maternal hypertension HP:0008071 http://purl.obolibrary.org/obo/HP_0008071 Increased blood pressure during a pregnancy. - SNOMEDCT_US:288250001, UMLS:C0565599 Premature rupture of membranes HP:0001788 http://purl.obolibrary.org/obo/HP_0001788 Premature rupture of membranes (PROM) is a condition which occurs in pregnancy when the amniotic sac ruptures more than an hour before the onset of labor. - SNOMEDCT_US:237266003, SNOMEDCT_US:44223004, UMLS:C0015944 Prolonged pregnancy OAE:0008251 http://purl.obolibrary.org/obo/OAE_0008251 This is an AE which is when a woman has not yet delivered her baby after 42 weeks of gestation, two weeks beyond the typical 40-week duration of pregnancy. prolonged gestation, post-term pregnancy MedDRA:10036595 Eclampsia HP:0100601 http://purl.obolibrary.org/obo/HP_0100601 An acute and life-threatening complication of pregnancy, which is characterized by the appearance of tonic-clonic seizures, usually in a patient who had developed pre-eclampsia. Eclampsia includes seizures and coma that happen during pregnancy but are not due to preexisting or organic brain disorders. - SNOMEDCT_US:15938005, UMLS:C0013537 Cough HP:0012735 http://purl.obolibrary.org/obo/HP_0012735 The European Respiratory Society Task Force recommended two possible definitions of cough: (1) A three-phase expulsive motor act characterized by an inspiratory effort (inspiratory phase) followed by a forced expiratory effort against a closed glottis (compressive phase) and then by opening of the glottis and rapid expiratory airflow (expulsive phase);and (2) A forced expiratory maneuver, usually against a closed glottis and associated with a characteristic sound. The term Cough or any of its more specific descendents can be modified by the terms Acute (HP:0011009), Subacute (HP:0011011), and Chronic (HP:0011010). In adults, an acute cough lasts less than 3 weeks, a subacute cough from 3 to 8 weeks, and a chronic cough longer than 8 weeks. In children aged less than 15 years a chronic cough is defined as a daily cough lasting for over 4 weeks. Cough, Coughing SNOMEDCT_US:263731006, SNOMEDCT_US:272039006, SNOMEDCT_US:49727002, UMLS:C0010200 Heartburn NCIT:C34670 http://purl.obolibrary.org/obo/NCIT_C34670 Abdominal discomfort with retrosternal pain usually associated with gastroesophageal reflux. Heartburn, Heartburn/Indigestion, Pyrosis IMDRF:E1025 Dysphagia HP:0002015 http://purl.obolibrary.org/obo/HP_0002015 Difficulty in swallowing. Deglutition disorder, Difficulty swallowing, Poor swallowing, Swallowing difficulties, Swallowing difficulty SNOMEDCT_US:288939007, SNOMEDCT_US:40739000, UMLS:C0011168, MEDDRA:10013950 Fever of unknown origin EFO:0003952 http://www.ebi.ac.uk/efo/EFO_0003952 Fever in which the etiology cannot be ascertained. Unknown Origin Fever, Unknown Origin Fevers ICD10:R50, MESH:D005335, MedDRA:10016563, NCIt:C34608 Disorder of ear MONDO:0021205 http://purl.obolibrary.org/obo/MONDO_0021205 A disease that involves the ear. disease or disorder of ear, Ear disease, Ear disorder, disease of ear, disorder of ear, ear disease or disorder, ear disease ICD9:388.8, ICD9:388.9, MEDGEN:3946, NCIT:C26757, SCTID:25906001, UMLS:C0013447 Central nervous system infectious disorder MONDO:0024619 http://purl.obolibrary.org/obo/MONDO_0024619 An infectious process that affects the brain and/or spinal cord. Representative examples include encephalitis, poliomyelitis, arachnoiditis, and meningitis. central nervous system infection, central nervous system infectious disease, central nervous system infectious disorder, infections, central nervous system, infectious disease of central nervous system EFO:1001456, GARD:0025438, ICD9:349.89, MEDGEN:1684837, MESH:D002494, NCIT:C27582, SCTID:128117002, UMLS:C4759823 Viral infectious disease MONDO:0005108 http://purl.obolibrary.org/obo/MONDO_0005108 Any disease caused by a virus. Viruses disease or disorder, Viruses infectious disease, infection, viral, Viruses caused disease or disorder, Viruses infection, infections, Viruses, viral disease, viral disorder, viral infection DOID:934, EFO:0000763, ICD9:060-066, ICD9:066.9, ICD9:078.89, ICD9:079.99, MESH:D014777, NCIT:C3439, SCTID:34014006 Common wart MONDO:0001209 http://purl.obolibrary.org/obo/MONDO_0001209 A wart caused by human papillomavirus. It can appear anywhere on the skin. common wart, verruca vulgaris DOID:11165, EFO:0009662, ICD10CM:B07, ICD9:078.1, ICD9:078.10, ICD9:078.19, MEDGEN:777120, MESH:D014860, NCIT:C27087, SCTID:57019003, UMLS:C3665596, icd11.foundation:1074706780 Bronchitis MONDO:0003781 http://purl.obolibrary.org/obo/MONDO_0003781 An acute or chronic inflammatory process affecting the bronchi. acute bronchitis, bronchial infection, chronic bronchitis, inflammation of bronchus, bronchus inflammation CSP:2596-1500, DOID:6132, EFO:0009661, ICD9:466.0, ICD9:490, ICD9:491, MEDGEN:2736, MESH:D001991, NCIT:C2911, SCTID:32398004, UMLS:C0006277, icd11.foundation:11753425 Female reproductive organ cancer MONDO:0001416 http://purl.obolibrary.org/obo/MONDO_0001416 A primary or metastatic malignant neoplasm involving the female reproductive system. Representative examples include endometrial carcinoma, cervical carcinoma, ovarian carcinoma, uterine corpus leiomyosarcoma, adenosarcoma, malignant mixed mesodermal (mullerian) tumor, and gestational choriocarcinoma. cancer of female reproductive organ, female reproductive cancer, female reproductive organ cancer, gynecologic cancer, malignant female reproductive organ neoplasm, malignant female reproductive system neoplasm, malignant female reproductive system tumor, malignant female reproductive system tumour, malignant gynecologic neoplasm, malignant gynecologic tumor, malignant gynecologic tumour, malignant neoplasm of female reproductive organ, malignant neoplasm of female reproductive system, malignant neoplasm of the female reproductive system, malignant tumor of female reproductive system, malignant tumor of the female reproductive system, malignant tumour of female reproductive system, malignant tumour of the female reproductive system DOID:120, EFO:1001331, ICD10CM:C51-C58, ICD9:184, MEDGEN:195944, NCIT:C4913, SCTID:126907002, UMLS:C0699889 Malignant pancreatic neoplasm MONDO:0009831 http://purl.obolibrary.org/obo/MONDO_0009831 A malignant neoplasm involving the pancreas. pancreas neoplasm, cancer of pancreas, malignant neoplasm of pancreas, malignant neoplasm of the pancreas, malignant pancreas neoplasm, malignant pancreatic neoplasm, pancreas cancer, pancreatic cancer, pancreatic tumour DOID:1793, EFO:1000359, GARD:0027792, ICD10CM:C25, ICD9:157.0, ICD9:157.1, ICD9:157.2, ICD9:157.8, MEDGEN:138068, NCIT:C9005, UMLS:C0346647, icd11.foundation:542147910 Respiratory system cancer MONDO:0000376 http://purl.obolibrary.org/obo/MONDO_0000376 A malignant neoplasm involving the respiratory system cancer of respiratory system, malignant neoplasm of respiratory system, malignant respiratory system neoplasm, respiratory system cancer DOID:0050615, ICD10CM:C34, ICD9:165.8, ICD9:165.9, MEDGEN:756863, NCIT:C4571, SCTID:449096009, UMLS:C3164456, icd11.foundation:401100796 Ovarian cancer MONDO:0008170 http://purl.obolibrary.org/obo/MONDO_0008170 A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas. ovarian cancer, somatic, ovarian malignant tumor, ovary neoplasm, tumor of the ovary, cancer of ovary, cancer of the ovary, malignant neoplasm of ovary, malignant neoplasm of the ovary, malignant ovarian neoplasm, malignant ovarian tumor, malignant ovarian tumour, malignant ovary neoplasm, malignant tumor of ovary, malignant tumor of the ovary, malignant tumour of ovary, malignant tumour of the ovary, ovarian cancer, ovarian malignant tumour, ovarian neoplasm, ovary cancer, tumour of the ovary DOID:2394, ICD10CM:C56, ICD9:183.0, MEDGEN:216027, MESH:D010051, NCIT:C7431, OMIM:167000, Orphanet:213500, SCTID:363443007, UMLS:C1140680, icd11.foundation:685124533 Fungal infectious disease MONDO:0002041 http://purl.obolibrary.org/obo/MONDO_0002041 An infection caused by a fungus. Fungi disease or disorder, Fungi infectious disease, Fungi caused disease or disorder, Fungi infection, infections, Fungi, mycosis DOID:1564, ICD10CM:B35-B49, ICD9:110-118, ICD9:117.9, MEDGEN:6486, MESH:D009181, NCIT:C3245, SCTID:3218000, UMLS:C0026946 Noninfectious colitis (disorder) SNOMED:14066009 http://snomed.info/id/14066009 Noninfectious colitis Non-infective colitis, Noninfectious colitis, Noninfectious colitis (disorder) - Congenital anomaly of the great arteries MONDO:0020292 http://purl.obolibrary.org/obo/MONDO_0020292 - congenital aorta, aortic arch or pulmonary arteries anomaly GARD:0019556, MEDGEN:798768, MedDRA:10061080, Orphanet:98724, UMLS:C0948632 Major salivary gland cancer MONDO:0044743 http://purl.obolibrary.org/obo/MONDO_0044743 A primary or metastatic malignant neoplasm affecting the major salivary glands. Representative examples include carcinoma, lymphoma, and sarcoma. cancer of major salivary gland, malignant major salivary gland neoplasm, malignant major salivary gland tumor, malignant major salivary gland tumour, malignant neoplasm of major salivary gland, malignant neoplasm of the major salivary gland, malignant tumor of major salivary gland, malignant tumor of the major salivary gland, malignant tumour of major salivary gland, malignant tumour of the major salivary gland GARD:0027972, MEDGEN:96919, NCIT:C4762, SCTID:363378008, UMLS:C0496763 Benign neoplasm of skin MONDO:0021440 http://purl.obolibrary.org/obo/MONDO_0021440 A benign neoplasm that involves the zone of skin. benign cutaneous neoplasm, benign cutaneous tumor, benign cutaneous tumour, benign neoplasm of the skin, benign skin neoplasm, benign skin tumor, benign skin tumour, benign tumor of skin, benign tumor of the skin, benign tumour of skin, benign tumour of the skin, skin neoplasms, benign, zone of skin benign neoplasm ICD9:216.8, ICD9:216.9, MEDGEN:2197, NCIT:C2896, SCTID:92384009, UMLS:C0004998 Uterine benign neoplasm MONDO:0000632 http://purl.obolibrary.org/obo/MONDO_0000632 A non-metastasizing neoplasm that arises from the uterine corpus or the cervix. Representative examples include leiomyoma, adenomyoma, and endocervical polyp. Uterous neoplasms, benign, Uterous tumors, benign, benign neoplasm of the uterus, benign neoplasm of uterus, benign tumor of the uterus, benign tumor of uterus, benign tumour of the uterus, benign tumour of uterus, benign uterine neoplasm, benign uterine neoplasms, benign uterine tumor, benign uterine tumors, benign uterine tumour, benign uterine tumours, benign uterus neoplasm, benign uterus neoplasms, benign uterus tumor, benign uterus tumors, benign uterus tumour, benign uterus tumours, uterine neoplasms, benign, uterine tumors, benign, uterus benign neoplasm DOID:0060095, ICD9:219.8, ICD9:219.9, MEDGEN:57809, NCIT:C3609, SCTID:92470003, UMLS:C0153999 Iron deficiency anemia MONDO:0001356 http://purl.obolibrary.org/obo/MONDO_0001356 Anemia caused by low iron intake, inefficient iron absorption in the gastrointestinal tract, or chronic blood loss. iron-deficiency anaemia, iron-deficiency anemia DOID:11758, ICD10CM:D50, ICD9:280.8, ICD9:280.9, MEDGEN:57668, MESH:D018798, NCIT:C84484, SCTID:87522002, UMLS:C0162316 Purpura, Thrombocytopenic, Idiopathic OMIT:0017031 http://purl.obolibrary.org/obo/OMIT_0017031 An autoimmune disorder characterized by thrombocytopenia (low platelet count) caused by autoantibodies against platelet antigens. ITP, idiopathic thrombocytopenic purpura, immune thrombocytopenia MESH:D016553, NCIT:C3439, DOID:2394 Hematologic disorder MONDO:0005570 http://purl.obolibrary.org/obo/MONDO_0005570 A disease involving the hematopoietic system. disease or disorder of hematopoietic system, hematopoietic disease, blood disease, blood disorder, disease of hematopoietic system, disease of the blood and blood-forming organs, disease or disorder of haematopoietic system, disorder of haematopoietic system, disorder of hematopoietic system, haematological disease, haematological disorder, haematological disorders and malignancies, haematological system disease, haematopoietic disease, haematopoietic system disease or disorder, hematologic and lymphocytic disorder, hematologic disorder, hematological disease, hematological disorder, hematological disorders and malignancies, hematological system disease, hematopoietic system disease or disorder, hematopoietic system disease, rare hematologic disease GTR:AN1320635, DOID:74, EFO:0005803, ICD10CM:D50-D89, ICD9:280-289, ICD9:289.8, ICD9:289.9, MEDGEN:5483, MESH:D006402, NANDO:1100006, NANDO:2100175, NCIT:C26323, Orphanet:97992, SCTID:414022008, UMLS:C0018939 Nervous system benign neoplasm MONDO:0000648 http://purl.obolibrary.org/obo/MONDO_0000648 Abnormal growth of cells in the nervous system without evidence of malignant characteristics. Unlike other organ systems, tumors in the central nervous system can have benign histological characteristics but still have life threatening effects due to their location within the neuraxis (e.g., brainstem gliomas). benign neoplasm of nervous system, benign neoplasm of the nervous system, benign nervous system neoplasm, benign nervous system tumor, benign nervous system tumour, benign tumor of nervous system, benign tumor of the nervous system, benign tumour of nervous system, benign tumour of the nervous system, nervous system benign neoplasm, nervous system neoplasm, benign DOID:0060115, ICD9:225.8, ICD9:225.9, MEDGEN:99232, NCIT:C4789, SCTID:92247009, UMLS:C0497550 Benign endocrine neoplasm MONDO:0000627 http://purl.obolibrary.org/obo/MONDO_0000627 A non-metastasizing, functioning or non-functioning neoplasm that arises from an endocrine organ. Representative examples include thyroid gland follicular adenoma and parathyroid gland adenoma. benign endocrine gland neoplasm, benign endocrine gland tumor, benign endocrine gland tumour, benign endocrine neoplasm, benign endocrine tumor, benign endocrine tumour, benign neoplasm of endocrine gland, benign neoplasm of the endocrine gland, benign tumor of endocrine gland, benign tumor of the endocrine gland, benign tumour of endocrine gland, benign tumour of the endocrine gland, endocrine gland benign neoplasm DOID:0060089, ICD9:227.8, ICD9:227.9, MEDGEN:87577, NCIT:C4621, SCTID:92085000, UMLS:C0347524 Digestive system tumor MONDO:0021223 http://purl.obolibrary.org/obo/MONDO_0021223 A neoplasm (disease) that involves the digestive system. GI neoplasm, GI system neoplasm, GI system tumor, GI system tumour, GI tumor, GI tumour, digestive neoplasm, digestive system neoplasm (disease), digestive system tumor, digestive system tumour, digestive tumor, digestive tumour, gastrointestinal neoplasm, gastrointestinal system neoplasm, gastrointestinal system tumor, gastrointestinal system tumour, gastrointestinal tumor, gastrointestinal tumour, neoplasm of GI system, neoplasm of digestive system, neoplasm of gastrointestinal system, neoplasm of the GI system, neoplasm of the digestive system, neoplasm of the gastrointestinal system, tumor of GI system, tumor of digestive system, tumor of gastrointestinal system, tumor of the GI system, tumor of the digestive system, tumor of the gastrointestinal system, tumour of GI system, tumour of digestive system, tumour of gastrointestinal system, tumour of the GI system, tumour of the digestive system, tumour of the gastrointestinal system EFO:0008549, MEDGEN:8398, MESH:D005770, NCIT:C3052, UMLS:C0012243 Anemia MONDO:0002280 http://purl.obolibrary.org/obo/MONDO_0002280 A reduction in the number of red blood cells, the amount of hemoglobin, and/or the volume of packed red blood cells. Clinically, anemia represents a reduction in the oxygen-transporting capacity of a designated volume of blood, resulting from an imbalance between blood loss (through hemorrhage or hemolysis) and blood production. Signs and symptoms of anemia may include pallor of the skin and mucous membranes, shortness of breath, palpitations of the heart, soft systolic murmurs, lethargy, and fatigability. anaemia (disease), anemia (disease), anemia DOID:2355, HP:0001903, ICD9:285.8, ICD9:285.9, MEDGEN:1526, MESH:D000740, NCIT:C2869, SCTID:271737000, UMLS:C0002871 Hematologic Diseases mesh:D006402 http://id.nlm.nih.gov/mesh/D006402 Disorders of the blood and blood forming tissues. Hematologic Diseases, Disease, Hematologic, Diseases, Hematologic, Hematologic Disease, Blood Diseases, Blood Disease, Disease, Blood, Diseases, Blood, Hematological Diseases, Disease, Hematological, Diseases, Hematological, Hematological Disease - Diabetes mellitus (disease) MONDO:0005015 http://purl.obolibrary.org/obo/MONDO_0005015 A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization. DM, diabetes mellitus (disease), diabetes mellitus, diabetes DOID:9351, EFO:0000400, HP:0000819, ICD10CM:E08-E13, ICD10WHO:E10-E14, ICD9:250, MEDGEN:8350, MESH:D003920, NANDO:2100157, NANDO:2100158, NCIT:C2985, SCTID:73211009, UMLS:C0011849, icd11.foundation:465177735 Hyperpituitarism MONDO:0006793 http://purl.obolibrary.org/obo/MONDO_0006793 Disease of the glandular, anterior portion of the pituitary (pituitary gland, anterior) resulting in hypersecretion of adenohypophyseal hormones such as growth hormone; prolactin; thyrotropin; luteinizing hormone; follicle stimulating hormone ; and adrenocorticotropic hormone. Hyperpituitarism usually is caused by a functional adenoma. - DOID:2444, EFO:1000973, ICD9:253.1, MEDGEN:43783, MESH:D006964, MedDRA:10020716, SCTID:10649000, UMLS:C0020506 Adrenal gland disorder MONDO:0005495 http://purl.obolibrary.org/obo/MONDO_0005495 A disease involving the adrenal gland. disease or disorder of adrenal gland, adrenal gland disease or disorder, adrenal gland disease, adrenal gland diseases, adrenal gland disorder, adrenal gland disorders, disease of adrenal gland, disorder of adrenal gland DOID:9553, EFO:0005539, ICD9:255, ICD9:255.8, ICD9:255.9, MEDGEN:892577, MESH:D000307, NCIT:C26690, SCTID:30171000, UMLS:C4021794 Fox-Fordyce disease MONDO:0006553 http://purl.obolibrary.org/obo/MONDO_0006553 A chronic skin disease most common in women aged 13-35 years.It is characterized by the development of intense itching in the underarm area, the pubic area, and around the nipple of the breast as a result of perspiration which becomes trapped in the sweat gland and surrounding areas. The cause is unknown, but heat, humidity, and stress may play a role. Treatment may include the use of retinoids, antibiotics, and immunosuppressants. Fox-Fordyce disease, Fox-Fordyce syndrome, apocrine miliaria, miliaria, apocrine DOID:1381, GARD:0027762, ICD10CM:L75.2, ICD9:705.82, MEDGEN:42092, MESH:D005588, NCIT:C84716, SCTID:65038009, UMLS:C0016632, Wikipedia:Fox-Fordyce_disease Ovarian endometriosis MONDO:0006337 http://purl.obolibrary.org/obo/MONDO_0006337 A non-neoplastic disorder characterized by the growth of endometrial tissue in the ovaries. It results in the development of blood filled ovarian cysts (chocolate cysts), and creation of scars and adhesions. endometriosis (disease) of ovary, endometriosis of ovary, ovarian endometriosis, ovary endometriosis (disease) DOID:11432, EFO:1000418, ICD10CM:N80.1, ICD9:617.1, MEDGEN:102350, NCIT:C27628, SCTID:266589005, UMLS:C0156344 Dystonia HP:0001332 http://purl.obolibrary.org/obo/HP_0001332 An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk. Dystonic disease, Dystonic movements UMLS:C0013421, UMLS:C4020871 Ulnar nerve lesion MONDO:0001458 http://purl.obolibrary.org/obo/MONDO_0001458 Editor note: todo DP for lesions lesion of ulnar nerve, peripheral nerve lesion of ulnar nerve, ulnar nerve peripheral nerve lesion DOID:12168, GARD:0022946, ICD10CM:G56.2, ICD9:354.2, MEDGEN:710723, SCTID:367475009, UMLS:C1288279, icd11.foundation:1575441355 Brain disorder MONDO:0005560 http://purl.obolibrary.org/obo/MONDO_0005560 Editor note: NCIT has different classes for brain disease and encephalopathy disease or disorder of brain, encephalopathy, brain disease or disorder, brain disease, disease of brain, disorder of brain DOID:936, EFO:0005774, ICD9:348.3, ICD9:348.30, ICD9:348.8, ICD9:348.9, MEDGEN:14214, MESH:D001927, NCIT:C96413, SCTID:81308009, UMLS:C0006111 Visual loss HP:0000572 http://purl.obolibrary.org/obo/HP_0000572 Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that). Loss of vision, Vision loss, Visual loss SNOMEDCT_US:7973008, UMLS:C3665386 Non-suppurative otitis media MONDO:0001212 http://purl.obolibrary.org/obo/MONDO_0001212 A otitis media which involves transudation of fluid in the middle ear without pus formation. nonsuppurative otitis media DOID:11180, ICD10CM:H65, ICD9:381.4, MEDGEN:543351, SCTID:275481002, UMLS:C0271446, icd11.foundation:800153181 Otitis media MONDO:0005441 http://purl.obolibrary.org/obo/MONDO_0005441 Inflammation of the anatomical structures of the middle ear, which is most often caused by an infectious process. Symptoms include erythema and edema of the tympanic membrane, pain, and possibly fever. inflammation of middle ear, medial otitis, middle Ear Inflammation, middle ear inflammation, otitis Media, otitis media (disease) DOID:10754, EFO:0004992, HP:0000388, ICD9:382.9, MEDGEN:45253, MESH:D010033, NCIT:C34885, SCTID:65363002, UMLS:C0029882, icd11.foundation:1079654421 Corneal ulcer MONDO:0004577 http://purl.obolibrary.org/obo/MONDO_0004577 Area of epithelial tissue loss from corneal surface; associated with inflammatory cells in the cornea and anterior chamber. Ulcer, corneal, cornea ulcer disease, ulcer disease of cornea DOID:8463, HP:0200020, ICD10CM:H16.0, ICD9:370.0, ICD9:370.00, MEDGEN:40486, MESH:D003320, NCIT:C50515, SCTID:91514001, UMLS:C0010043, icd11.foundation:2089700977 Diplopia HP:0000651 http://purl.obolibrary.org/obo/HP_0000651 Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision. Double vision SNOMEDCT_US:24982008, UMLS:C0012569 Entropion and trichiasis of eyelid (disorder) SNOMED:267649003 http://snomed.info/id/267649003 Entropion and trichiasis of eyelid Entropion and trichiasis of eyelid, Entropion and trichiasis of eyelid (disorder) - Epiphora HP:0009926 http://purl.obolibrary.org/obo/HP_0009926 Epiphora or tearing is the presence of a watering eye, which is a common complaint for referrals to oculoplastics clinics for evaluation. The etiology of tearing can be divided into two categories: reflex tearing and reduced tear outflow. Reflex tearing is usually secondary to dry eye, inflammation, allergy or other ocular surface disorders, whereas primary hypersecretion of the lacrimal glands is rare. Reduced tear outflow is due to eyelid malposition, tear pump dysfunction caused by eyelid laxity, or obstruction at any portion of the nasaolacrimal drainage system. Increased lacrimation, Increased tears, Tearing, Watery eyes SNOMEDCT_US:193982009, SNOMEDCT_US:418035005, UMLS:C0152227 Primary angle-closure glaucoma MONDO:0001868 http://purl.obolibrary.org/obo/MONDO_0001868 An angle-closure glaucoma characterized by closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Primary angle-closure glaucoma has symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Primary angle closure glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component. - DOID:1405, EFO:1001506, ICD10CM:H40.2, ICD9:365.2, ICD9:365.20, MEDGEN:42225, NCIT:C34640, SCTID:392288006, UMLS:C0017606 Degeneration of macula and posterior pole MONDO:0002175 http://purl.obolibrary.org/obo/MONDO_0002175 - degeneration of macula and posterior pole of retina DOID:2007, ICD10CM:H35.3, ICD9:362.5, MEDGEN:573150, SCTID:267611002, UMLS:C0339436 Eye disorder MONDO:0005328 http://purl.obolibrary.org/obo/MONDO_0005328 A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma. disease or disorder of eyeball of camera-type eye, disease of eye, disease of eyeball of camera-type eye, disorder of eye, disorder of eyeball of camera-type eye, eye disease, eye disorder, eyeball of camera-type eye disease or disorder, eyeball of camera-type eye disease, globe disease DOID:1242, DOID:5614, EFO:0003966, ICD9:360, ICD9:360.29, ICD9:360.89, ICD9:360.9, ICD9:379.8, ICD9:379.90, MEDGEN:5092, MESH:D005128, NCIT:C26767, SCTID:371405004, UMLS:C0015397 Retinal break EFO:0010698 http://www.ebi.ac.uk/efo/EFO_0010698 Retinal breaks are full-thickness discontinuities in the retina. They can be classified into tears, such as horseshoe tears and giant retinal tears, or holes, such as operculated holes and atrophic holes. - MedDRA:10066422 Visual disturbance (disorder) SNOMED:63102001 http://snomed.info/id/63102001 Visual disturbance Visual disturbance, Visual disturbance (disorder) - Benign paroxysmal positional vertigo MONDO:8000018 http://purl.obolibrary.org/obo/MONDO_8000018 Idiopathic recurrent vertigo associated with positional nystagmus. It is associated with a vestibular loss without other neurological or auditory signs. Unlike in labyrinthitis and vestibular neuronitis inflammation in the ear is not observed. BPPV, BRV, benign paroxysmal positional vertigo, familial benign recurrent vertigo, familial vestibulopathy, vertigo, benign paroxysmal positional, vertigo, benign recurrent, vestibulopathy, familial DOID:13941, ICD9:386.11, MEDGEN:57837, MESH:D065635, OMIM:193007, SCTID:111541001, UMLS:C0155502 Hearing loss, mixed conductive-sensorineural MONDO:0044001 http://purl.obolibrary.org/obo/MONDO_0044001 Hearing loss characterized by a combination of conductive and sensorineural hearing loss. It is caused by problems in both the inner ear and middle or outer ear. Losses, mixed hearing, hearing loss, mixed conductive sensorineural, hearing loss, mixed, loss, mixed hearing, mixed conductive and sensorineural deafness, mixed conductive and sensorineural hearing loss, mixed hearing loss MEDGEN:102336, MESH:D046089, NCIT:C26974, SCTID:77507001, UMLS:C0155552 Sensorineural hearing loss disorder MONDO:0020678 http://purl.obolibrary.org/obo/MONDO_0020678 Hearing loss in which the root cause lies in the inner ear or sensory organ (cochlea and associated structures) or the vestibulocochlear nerve (cranial nerve VIII). SNHL, sensorineural deafness, sensorineural hearing loss disorder, sensorineural hearing loss HP:0000407, DOID:10003, EFO:1001176, MEDGEN:9164, NCIT:C26739, SCTID:60700002, UMLS:C0018784 Ear pain HP:0030766 http://purl.obolibrary.org/obo/HP_0030766 Pain in the ear can be a consequence of otologic disease (primary or otogenic otalgia), or can arise from pathologic processes and structures other than the ear (secondary or referred otalgia). Otalgia, Ear pain, Pain in the ear SNOMEDCT_US:16001004, SNOMEDCT_US:162356005, UMLS:C0013456 Hypertensive nephropathy MONDO:0024633 http://purl.obolibrary.org/obo/MONDO_0024633 Kidney damage that results from chronically elevated blood pressure; complications include glomerular damage resulting in proteinuria and hematuria. hypertensive renal disease, HNP1, hypertensive nephropathy ICD9:403.90, MEDGEN:167258, MESH:C563161, NCIT:C4757, OMIM:608026, SCTID:38481006, UMLS:C0848548 Pericarditis MONDO:0005904 http://purl.obolibrary.org/obo/MONDO_0005904 An inflammatory process affecting the pericardium. inflammation of pericardium, pericarditis (disease), pericarditis, pericardium inflammation DOID:1787, EFO:0007427, HP:0001701, MEDGEN:18377, MESH:D010493, NCIT:C34915, Orphanet:58208, SCTID:3238004, UMLS:C0031046, icd11.foundation:1296696944 Mitral valve disorder MONDO:0003767 http://purl.obolibrary.org/obo/MONDO_0003767 A disease involving the mitral valve. disease or disorder of mitral valve, rheumatic disease of mitral valve, rheumatic mitral valve changes, rheumatic mitral valve incompetence, rheumatic mitral valve regurgitation, disease of mitral valve, disorder of mitral valve, mitral valve disease or disorder, mitral valve disease, mitral valve disorder, rheumatic mitral insufficiency ICD9:394.9, DOID:61, EFO:0009557, ICD9:394, ICD9:394.1, ICD9:424.0, MEDGEN:7669, NCIT:C78446, SCTID:11851006, UMLS:C0026265, icd11.foundation:1997348476 Aortic valve disorder MONDO:0003803 http://purl.obolibrary.org/obo/MONDO_0003803 A disease involving the aortic valve. disease or disorder of aortic valve, aortic valve disease or disorder, aortic valve disease, aortic valve disorder, disease of aortic valve, disorder of aortic valve DOID:62, EFO:0009531, ICD9:395, ICD9:424.1, MEDGEN:226776, NCIT:C78650, UMLS:C1260873, icd11.foundation:1609206873 Cardiomyopathy MONDO:0004994 http://purl.obolibrary.org/obo/MONDO_0004994 A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive. Cardiomyopathies, cardiomyopathy DOID:0050700, EFO:0000318, ICD10CM:I42, ICD10WHO:I42, ICD9:425, ICD9:425.4, ICD9:425.9, MEDGEN:209232, MESH:D009202, MedDRA:10007636, NCIT:C34830, Orphanet:167848, SCTID:85898001, UMLS:C0878544, icd11.foundation:282225286 Bundle branch block EFO:0004138 http://www.ebi.ac.uk/efo/EFO_0004138 A bundle branch block refers to a defect of the heart's electrical conduction system in which the bundle branch may cease to conduct electrical impulses appropriately. This results in altered pathways for ventricular depolarization. Since the electrical impulse can no longer use the preferred pathway across the bundle branch, it may move instead through muscle fibers in a way that both slows the electrical movement and changes the directional propagation of the impulses. As a result, there is a loss of ventricular synchrony, ventricular depolarization is prolonged, and there may be a corresponding drop in cardiac output. When heart failure is present, a specialized pacemaker may be used to resynchronize the ventricles bundle-branch block ICD10:I44, MESH:D002037, MedDRA:10006578, MedDRA:10006583, MedDRA:10006584, OMIM:113900, SNOMEDCT:6374002 Ventricular tachycardia MONDO:0005477 http://purl.obolibrary.org/obo/MONDO_0005477 A disorder characterized by an electrocardiographic finding of three or more consecutive complexes of ventricular origin with a rate greater than a certain threshold (100 or 120 beats per minute are commonly used). The QRS complexes are wide and have an abnormal morphology. (CDISC) - EFO:0005306, ICD10CM:I47.2, MEDGEN:12068, MESH:D017180, NANDO:2100049, NCIT:C50802, SCTID:25569003, UMLS:C0042514, icd11.foundation:1171837620 Cerebral infarction MONDO:0002679 http://purl.obolibrary.org/obo/MONDO_0002679 An ischemic condition of the brain, producing a persistent focal neurological deficit in the area of distribution of the cerebral arteries. CVA - cerebral infarction, cerebral, infarction, infarction, cerebral, brain infarction of telencephalon, cerebral infarct, cerebral infarction, cerebral ischemia, telencephalon brain infarction DOID:3526, ICD10CM:I63, ICD10CM:I63.9, ICD10WHO:I63, ICD9:433.01, ICD9:433.21, ICD9:433.31, ICD9:433.81, ICD9:434.91, MEDGEN:3321, MESH:D002544, NCIT:C50486, SCTID:432504007, UMLS:C0007785, icd11.foundation:1614716959, icd11.foundation:636274910 Periodontitis MONDO:0005076 http://purl.obolibrary.org/obo/MONDO_0005076 An acute or chronic inflammatory process that affects the tissues that surround and support the teeth. inflammation of periodontium, periodontium inflammation, periodontosis DOID:824, DOID:9893, EFO:0000649, ICD10CM:K05.4, ICD9:523.5, MEDGEN:45815, MESH:D010518, NCIT:C34918, SCTID:41565005, UMLS:C0031099 Abnormality of the mouth HP:0000153 http://purl.obolibrary.org/obo/HP_0000153 An abnormality of the mouth. Abnormal mouth, Abnormality of the mouth SNOMEDCT_US:128334002, UMLS:C0026633 Achalasia HP:0002571 http://purl.obolibrary.org/obo/HP_0002571 Achalasia may lead to regurgitation of food, chest pain, cough, and difficulty swallowing. Achalasia of the esophagus, Achalasia of the oesophagus SNOMEDCT_US:45564002, UMLS:C0014848, MEDDRA:10030136 Gastritis MONDO:0004966 http://purl.obolibrary.org/obo/MONDO_0004966 Inflammation of the stomach. acute gastric mucosal erosion, erosive gastritis, erosive gastropathy, inflammation of stomach, gastritis (disease), gastritis, stomach inflammation DOID:4029, EFO:0000217, HP:0005263, ICD9:535.0, ICD9:535.00, ICD9:535.01, ICD9:535.4, ICD9:535.40, ICD9:535.41, MEDGEN:4843, MESH:D005756, NCIT:C26780, SCTID:4556007, UMLS:C0017152, icd11.foundation:1871672644 Barrett esophagus MONDO:0013662 http://purl.obolibrary.org/obo/MONDO_0013662 Esophageal lesion lined with columnar metaplastic epithelium which is flat or villiform. Barrett epithelium is characterized by two different types of cells: goblet cells and columnar cells. The symptomatology of Barrett esophagus is that of gastro-esophageal reflux. It is the precursor of most esophageal adenocarcinomas. (WHO) Barrett esophagus/esophageal adenocarcinoma, BE, Barrett esophagus, Barrett's esophagus, Barrett's oesophagus with esophagitis, Barrett's ulcer of oesophagus, CELLO, CLE, adenocarcinoma of oesophagus, cello, columnar epithelial-lined Lower esophagus, columnar epithelial-lined Lower oesophagus, columnar-lined esophagus, columnar-lined oesophagus DOID:9206, EFO:0000280, ICD10CM:K22.7, ICD9:530.85, MEDGEN:2551, MESH:D001471, NCIT:C2891, OMIM:614266, Orphanet:1232, SCTID:196609006, UMLS:C0004763 Salivary gland disorder MONDO:0001142 http://purl.obolibrary.org/obo/MONDO_0001142 A disease involving the saliva-secreting gland. disease or disorder of saliva-secreting gland, non-neoplastic salivary gland disease, disease of saliva-secreting gland, disorder of saliva-secreting gland, saliva-secreting gland disease or disorder, saliva-secreting gland disease, salivary gland disease, salivary gland disorder DOID:10854, EFO:0008581, ICD9:527.8, ICD9:527.9, MEDGEN:892384, MESH:D012466, NCIT:C26879, SCTID:10890000, UMLS:C0149772, icd11.foundation:1432273670 Chronic pancreatitis MONDO:0005003 http://purl.obolibrary.org/obo/MONDO_0005003 A chronic inflammatory process causing damage and fibrosis of the pancreatic parenchyma. Signs and symptoms include abdominal pain, malabsorption and diabetes mellitus. pancreatitis, chronic DOID:0051065, EFO:0000342, ICD9:577.1, MEDGEN:101753, MESH:D050500, NCIT:C84637, SCTID:235494005, UMLS:C0149521, icd11.foundation:1758007371 Intestinal impaction MONDO:0004571 http://purl.obolibrary.org/obo/MONDO_0004571 - - DOID:8448, ICD9:560.30, ICD9:560.39, MEDGEN:581145, SCTID:62851005, UMLS:C0392503 Disease of peritoneum EFO:0009541 http://www.ebi.ac.uk/efo/EFO_0009541 A non-neoplastic or neoplastic disorder that affects the peritoneal cavity. Representative examples of non-neoplastic disorders include peritonitis and panniculitis. Representative examples of neoplastic disorders include adenomatoid tumor, primary peritoneal carcinoma, metastatic carcinoma to the peritoneum, and malignant mesothelioma. disease of peritoneum, disease or disorder of peritoneum, disorder of peritoneum, peritoneal disease, peritoneal disorder, peritoneum disease or disorder, peritoneum disease ICD10:K66, MESH:D010532, MONDO:0020591, NCIt:C26848, UMLS:C0031142 Intestinal volvulus EFO:1000989 http://www.ebi.ac.uk/efo/EFO_1000989 A twisting in the intestine (INTESTINES) that can cause INTESTINAL OBSTRUCTION. Intestinal Volvulus, Twist of intestine, bowel, or colon, Volvulus (& [torsion of bowel]), Volvulus NOS (disorder), Volvulus, intestinal volvulus (disorder) DOID:8445, MESH:D045822, NCIt:C98963, SNOMEDCT:9707006 Gastroesophageal reflux disease MONDO:0007186 http://purl.obolibrary.org/obo/MONDO_0007186 A chronic disorder characterized by reflux of the gastric and/or duodenal contents into the distal esophagus. It is usually caused by incompetence of the lower esophageal sphincter. Symptoms include heartburn and acid indigestion. It may cause injury to the esophageal mucosa. ger, GERD, acid reflux, gastroesophageal reflux disease, gastroesophageal reflux, gastroesophageal reflux, paediatric DOID:8534, EFO:0003948, ICD9:530.81, MEDGEN:6553, MESH:D005764, NCIT:C26781, OMIM:109350, SCTID:235595009, UMLS:C0017168, icd11.foundation:1391387859 Duodenal ulcer MONDO:0005412 http://purl.obolibrary.org/obo/MONDO_0005412 An ulcer in the duodenal wall. stress Ulcer, duodenal ulcer (disease) DOID:1724, EFO:0004607, HP:0002588, ICD10CM:K26, ICD10WHO:K26, ICD9:532, MEDGEN:41670, MESH:D004381, NCIT:C26755, SCTID:39755000, UMLS:C0013295, icd11.foundation:553678663 Appendicitis MONDO:0005649 http://purl.obolibrary.org/obo/MONDO_0005649 Acute inflammation of the vermiform appendix. acute appendicitis with generalized peritonitis, acute appendicitis with peritoneal abscess, acute appendicitis, inflammation of vermiform appendix, acute appendicitis with generalised peritonitis, vermiform appendix inflammation DOID:8337, EFO:0007149, ICD9:540-543, ICD9:541, MEDGEN:1630, MESH:D001064, NCIT:C35145, SCTID:74400008, UMLS:C0003615, icd11.foundation:1881255733 Paralytic ileus MONDO:0004568 http://purl.obolibrary.org/obo/MONDO_0004568 An ileus caused by abdominal or pelvic surgery, infections, disorders that affect the muscles and nerves, and medications. Signs and symptoms include those of intestinal obstruction. paralytic ileus (disease), paralytic ileus DOID:8442, HP:0002590, ICD10CM:K56.0, ICD9:560.1, MEDGEN:18293, NCIT:C93045, SCTID:55525008, UMLS:C0030446, icd11.foundation:1868011045 Peritonitis MONDO:0004522 http://purl.obolibrary.org/obo/MONDO_0004522 Inflammation of the peritoneum due to infection by bacteria or fungi. Causes include liver disease, perforation of the gastrointestinal tract or biliary tract, and peritoneal dialysis. Patients usually present with abdominal pain and tenderness, fever, chills, and nausea and vomiting. It is an emergency medical condition that requires prompt medical attention and treatment. acute generalised peritonitis DOID:8283, EFO:0008588, ICD10CM:K65, ICD9:567.8, ICD9:567.82, ICD9:567.89, MEDGEN:688825, NCIT:C26849, SCTID:86422009, UMLS:C1264610 Alcoholic liver diseases MONDO:0043693 http://purl.obolibrary.org/obo/MONDO_0043693 A disorder caused by damage to the liver parenchyma due to alcohol consumption. It may present with an acute onset or follow a chronic course, leading to cirrhosis. alcoholic liver damage, alcoholic liver disease, alcoholic liver diseases, liver disease, alcoholic DOID:0070658, EFO:0008573, ICD10CM:K70, MEDGEN:9793, MESH:D008108, NCIT:C34783, SCTID:41309000, UMLS:C0023896, icd11.foundation:469481605 Cellulitis MONDO:0005230 http://purl.obolibrary.org/obo/MONDO_0005230 Inflammation of the dermis and subcutaneous tissues caused by a bacterial infection. Symptoms include erythema, edema, and pain to the affected area. cellulitis (disease), cellulitis DOID:3488, EFO:0003035, HP:0100658, ICD10WHO:L03, ICD9:682.8, ICD9:682.9, MEDGEN:40174, MESH:D002481, NCIT:C26715, SCTID:128045006, UMLS:C0007642, Wikipedia:Cellulitis Pilonidal cyst SNOMED:47639008 http://snomed.info/id/47639008 Pilonidal cyst Cyst - pilonidal, Piliferous cyst, Pilonidal cyst, Pilonidal cyst (disorder) - Skin atrophy MONDO:0006610 http://purl.obolibrary.org/obo/MONDO_0006610 The degeneration and thinning of the epidermis and dermis. It is usually a manifestation of aging. atrophic skin, atrophy of skin DOID:2733, EFO:1000766, ICD9:701.8, MEDGEN:101793, NCIT:C35163, SCTID:400190005, UMLS:C0151514, Wikipedia:Steroid_atrophy Lichen sclerosus et atrophicus MONDO:0007899 http://purl.obolibrary.org/obo/MONDO_0007899 A chronic inflammatory process affecting the skin. It is characterized by the presence of white, indurated plaques, epidermal atrophy, and fibrosis of the upper dermis. It usually appears in the vulva and penis. LSA, lichen sclerosis et atrophicus, lichen sclerosis, lichen sclerosus et atrophicus, lichen sclerosus ICD10CM:L90.0, MEDGEN:7338, MESH:D018459, NCIT:C26817, OMIM:151590, Orphanet:33409, SCTID:25674000, UMLS:C0023652 Nail anomaly MONDO:0019283 http://purl.obolibrary.org/obo/MONDO_0019283 A epidermal appendage anomaly that involves the nail. epidermal appendage anomaly of nail, nail epidermal appendage anomaly MEDGEN:539627, MedDRA:10028684, Orphanet:79368, UMLS:C0265997 Nail disorder MONDO:0002884 http://purl.obolibrary.org/obo/MONDO_0002884 A disease involving the nail. disease or disorder of nail, disease of nail, disorder of nail, nail disease or disorder, nail disease DOID:4123, ICD9:703, ICD9:703.8, ICD9:703.9, MEDGEN:10171, MESH:D009260, SCTID:17790008, UMLS:C0027339 Abnormality of the skin HP:0000951 http://purl.obolibrary.org/obo/HP_0000951 An abnormality of the skin. Skin abnormality, Abnormality of the skin, Dermatopathy, Dermopathy SNOMEDCT_US:199879009, SNOMEDCT_US:95320005, UMLS:C0037268, UMLS:C0037274 Pyogenic granuloma MONDO:0022096 http://purl.obolibrary.org/obo/MONDO_0022096 A disorder of the skin, the oral mucosa, and the gingiva, that usually presents as a solitary polypoid capillary hemangioma often resulting from trauma. It is manifested as an inflammatory response with similar characteristics to those of a granuloma. Capillary Hemangioma, Lobular, Capillary hemangioma of granulation tissue type, Granuloma Pyogenicum, Granuloma Telangiecticum, Granuloma pyogenicum, Granuloma telangiectaticum, Granuloma, Pyogenic, Lobular Capillary Hemangioma, Lobular capillary hemangioma, PG - Pyogenic granuloma, angiogranuloma, angiogranulomas, hemangioma, Lobular Capillary ICD10CM:L98.0, MEDGEN:39085, MESH:D017789, NCIT:C3480, SCTID:200722003, UMLS:C0085653, icd11.foundation:440675859 Pruritus HP:0000989 http://purl.obolibrary.org/obo/HP_0000989 Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus. Itching, Itchy skin, Skin itching SNOMEDCT_US:279333002, SNOMEDCT_US:418290006, SNOMEDCT_US:418363000, SNOMEDCT_US:424492005, UMLS:C0033774 Radiation-induced disorder MONDO:0043459 http://purl.obolibrary.org/obo/MONDO_0043459 A non-neoplastic or neoplastic disorder which results from exposure to radiation. Examples of non-neoplastic disorders include dermatitis, enteritis, stomatitis, pneumonitis, and cerebritis. Examples of neoplastic disorders include myelodysplastic syndromes, leukemias, and sarcomas. radiation-induced abnormalities, Abnormality, radiation-induced, abnormalities, radiation induced, radiation induced abnormalities, radiation-induced Abnormality, radiation-induced disorder EFO:0009565, GARD:0022139, MEDGEN:734320, MESH:D000016, NCIT:C26684, Orphanet:521132, SCTID:85983004, UMLS:C1527225 Acrodermatitis chronica atrophicans MONDO:0006524 http://purl.obolibrary.org/obo/MONDO_0006524 An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis. - DOID:0060344, EFO:1000665, GARD:0027761, ICD10CM:L90.4, ICD9:701.8, MEDGEN:537873, SCTID:4340003, UMLS:C0263421, icd11.foundation:1761234822 Frozen shoulder MONDO:0006763 http://purl.obolibrary.org/obo/MONDO_0006763 A painful inflammatory process leads to a mechanical block in active and passive range of motion (ROM) of the shoulder. Adhesive capsulitis of the shoulder is characterized by functional loss of passive and active shoulder motion. This inflammatory process results in fibroblastic proliferation and extensive scar tissue formation. Fibroblastic proliferation, a late phase of the inflammatory process involved in tissue repair, leads to thickening, fibrosis, and adhesion of the capsule to itself and the humerus. adhesive capsulitis of shoulder, adhesive capsulitis DOID:14188, EFO:1000941, ICD10CM:M75.0, ICD9:726.0, MEDGEN:90227, MedDRA:10017391, SCTID:399114005, UMLS:C0311223 Popliteal synovial cyst HP:0032072 http://purl.obolibrary.org/obo/HP_0032072 Popliteal synovial cysts, also known as Baker's cysts, are commonly found in association with intraarticular knee disorders, such as osteoarthritis and meniscus tears. Histologically, the cyst walls resemble synovial tissue with fibrosis, and chronic nonspecific inflammation may be present. Osteocartilaginous loose bodies may also be found within the cyst, even if they are not seen in the knee joint. Baker cysts can be a source of posterior knee pain that persists despite surgical treatment of the intraarticular lesion, and they are routinely discovered on magnetic resonance imaging scans of the symptomatic knee. Symptoms related to a popliteal cyst origin are infrequent and may be related to size. Baker's cyst - Joint contracture HP:0034392 http://purl.obolibrary.org/obo/HP_0034392 To assess a joint contracture, the passive or active range of motion (ROM) of a joint with a contracture is assessed by moving the joint through its natural range with no active effort from the individual. The angular distance of the joint motion and the loss of ROM in a contracture is recorded through comparison with the contralateral joint or normative values. Conventionally, a joint contracture is named according to the joint involved and the direction opposite the lack of range. For example, inability to fully extend the knee is referred to as a knee flexion contracture, compared to inability to bend (flex) the knee, which is referred to as a knee extension contracture. Contractures in neuromuscular diseases develop due to intrinsic myotendinous structural changes and extrinsic factors. Known contributing extrinsic factors include decreased ability to actively move a limb through its full range of motion, immobility or static positioning for prolonged periods of time, and agonist antagonist muscle imbalance. Intrinsic muscle tissue alterations in dystrophic myopathies contribute to contracture formation. The most significant histologic changes are those of muscle fiber loss, abnormal residual dystrophic muscle fibers, segmental necrosis of muscle fibers, and increased amounts of adipose tissue, connective tissue, and fibrosis. Contracture - Flexion deformity (disorder) SNOMED:203598005 http://snomed.info/id/203598005 Flexion deformity Flexion deformity, Flexion deformity (disorder) - Ganglion AEO:0000135 http://purl.obolibrary.org/obo/AEO_0000135 A group of neurons, usually outside the CNS, which relay neuronal signals. synovial cyst, ganglion cyst MESH:D005706 Temporal arteritis MONDO:0008538 http://purl.obolibrary.org/obo/MONDO_0008538 A large vessel vasculitis predominantly involving the arteries originating from the aortic arch and especially the extracranial branches of the carotid arteries. inflammation of temporal artery, GCA, Giant Cell Arteritis, Horton disease, Horton's arteritis, Horton's giant cell arteritis, Horton's temporal arteritis, Horton¡¯s disease, Horton¡¯s syndrome, arteritis cranialis, arteritis temporalis, giant cell arteritis, temporal arteritis, temporal artery inflammation DOID:13375, EFO:1001209, GARD:0009615, ICD9:446.5, MEDGEN:365495, MedDRA:10018250, MedDRA:10043207, NANDO:1200258, NANDO:1200259, NANDO:1200260, NCIT:C35065, NORD:805, OMIM:187360, Orphanet:397, SCTID:400130008, UMLS:C1956391, icd11.foundation:1929970386 Epicondylitis DOID:14087 http://purl.obolibrary.org/obo/DOID_14087 A bone inflammation disease that results_in inflammation located_in epicondyle. Lateral epicondylitis, andrel epicondylitis, archer's elbow, golfer's elbow, hockey elbow, medial epicondylitis, shooter's elbow, tennis elbow ICD10CM:M77.1, ICD9CM:726.32, MESH:D000070639, MESH:D013716, NCI:C34589, NCI:C35067, SNOMEDCT_US_2025_09_01:156659008, SNOMEDCT_US_2025_09_01:268088003, UMLS_CUI:C0014488, UMLS_CUI:C0039516 Myalgia HP:0003326 http://purl.obolibrary.org/obo/HP_0003326 Pain in muscle. Muscle ache, Muscle pain, Myalgias SNOMEDCT_US:68962001, UMLS:C0231528 Necrotizing vasculitis MONDO:0800113 http://purl.obolibrary.org/obo/MONDO_0800113 A type of vasculitis that is comprised of vasculitides that present with necrosis. systemic vasculitis GARD:0005106, MEDGEN:230813, NCIT:C70635, UMLS:C1318520 Spinal stenosis MONDO:0005965 http://purl.obolibrary.org/obo/MONDO_0005965 Narrowing of the spinal canal. cervical spinal stenosis, lumbar spinal stenosis, spinal stenosis of lumbar region DOID:6725, EFO:0007490, HP:0003416, ICD10CM:M48.0, ICD9:723.0, ICD9:724.00, ICD9:724.09, MEDGEN:396107, MESH:D013130, NANDO:1200372, NCIT:C177444, SCTID:76107001, UMLS:C1861329, icd11.foundation:1847895828 Spondylolisthesis MONDO:0008475 http://purl.obolibrary.org/obo/MONDO_0008475 A condition in which there is forward displacement of a vertebral bone over the on below it. spondylolisthesis (disease), spondylolisthesis DOID:6682, EFO:0007493, HP:0003302, ICD10CM:M43.1, MEDGEN:52470, MESH:D013168, NCIT:C35033, OMIM:184200, SCTID:274152003, UMLS:C0038016, icd11.foundation:1075039772 Joint damage measurement EFO:0005413 http://www.ebi.ac.uk/efo/EFO_0005413 quantification of the level of joint damage, eg through radiological analysis - - Vascular disorder MONDO:0005385 http://purl.obolibrary.org/obo/MONDO_0005385 The etiology of vasculopathy is generally unknown and the condition is frequently not pathologically proven. Vasculitis, on the other hand, is a more specific term and is defined as inflammation of the wall of a blood vessel. However, the term vasculopathy is also used for ¡°vasculitis¡± that has not been pathologically established. disease or disorder of vasculature, disease of vasculature, disorder of vasculature, vascular disorder, vasculature disease or disorder, vasculature disease, vasculopathy DOID:178, EFO:0004264, ICD10CM:I00-I99, ICD10CM:I70-I79, ICD9:442.9, MEDGEN:22621, MESH:D014652, NANDO:2100294, NCIT:C35117, SCTID:27550009, UMLS:C0042373 Vertebral column disorder MONDO:0000812 http://purl.obolibrary.org/obo/MONDO_0000812 A disease involving the vertebral column. disease of spine, disease or disorder of vertebral column, disease of vertebral column, disorder of vertebral column, vertebral column disease or disorder, vertebral column disease ICD9:724.9, DOID:0060564, MEDGEN:52455, MESH:D013122, SCTID:699699005, UMLS:C0037933, icd11.foundation:1989556002 Inflammatory spondylopathies MONDO:0001434 http://purl.obolibrary.org/obo/MONDO_0001434 - inflammatory spondylopathy in disease classified elsewhere, inflammatory spondylopathies in disease classified elsewhere DOID:12105, ICD9:720.81, ICD9:720.89, ICD9:720.9, MEDGEN:215416, SCTID:202649003, UMLS:C0949690 Myopathy EFO:0002970 http://www.ebi.ac.uk/efo/EFO_0002970 A muscular disease in which the muscle fibers do not function resulting in muscular weakness. MUSCLE DIS, MUSCULAR DIS, Muscle Disorder, Muscle Disorders, Muscular Diseases, Myopathic Condition, Myopathic Conditions DOID:0080000, ICD10:G71, ICD10:M62, MESH:D009135 Osteonecrosis MONDO:0005380 http://purl.obolibrary.org/obo/MONDO_0005380 A none disease characterized by death of bone tissue due to a lack of blood supply. bone necrosis, ischaemic bone disease, ischemic bone disease, osteonecrosis DOID:0080008, DOID:10159, EFO:0004259, GARD:0021657, ICD10CM:M87, ICD10WHO:M87, ICD9:732.3, ICD9:733.4, ICD9:733.41, ICD9:733.42, ICD9:733.43, ICD9:733.44, ICD9:733.49, MEDGEN:45249, MESH:D010020, NCIT:C34880, NCIT:C35476, NORD:1537, Orphanet:399158, SCTID:240196003, UMLS:C0029445, icd11.foundation:536467755 Overactive bladder MONDO:0006624 http://purl.obolibrary.org/obo/MONDO_0006624 Symptom of overactive detrusor muscle of the urinary bladder that contracts with abnormally high frequency and urgency. Overactive bladder is characterized by the frequent feeling of needing to urinate during the day, during the night, or both. urinary incontinence may or may not be present. overactive bladder (disease), overactive bladder DOID:0070355, EFO:1000781, HP:0000012, ICD10CM:N32.81, ICD9:596.51, MEDGEN:168058, MESH:D053201, MedDRA:10020853, SCTID:236633002, UMLS:C0878773, icd11.foundation:1118102209 Epididymo-orchitis MONDO:0004778 http://purl.obolibrary.org/obo/MONDO_0004778 A disorder involving inflammation of the epididymis and testes. - DOID:9401, ICD10CM:N45.3, ICD9:604, ICD9:604.90, MEDGEN:508448, SCTID:197983000, UMLS:C0149881, icd11.foundation:1745517194 Male reproductive system disorder MONDO:0003150 http://purl.obolibrary.org/obo/MONDO_0003150 A disease involving the male reproductive system. disease or disorder of male reproductive system, male reproductive disease, Male reproductive system disease, Male reproductive system disorder, disease of male reproductive system, disorder of Male reproductive system, disorder of male reproductive system, male reproductive system disease or disorder, male reproductive system disease DOID:48, EFO:0009555, ICD10CM:N40-N53, ICD10WHO:N40-N51, ICD9:600-608, ICD9:608.9, MEDGEN:66734, MESH:D005832, NCIT:C27019, SCTID:363194005, UMLS:C0236099 Benign mammary dysplasia MONDO:0004808 http://purl.obolibrary.org/obo/MONDO_0004808 Editor note: NCIT treats dysplasia as a finding. Also as distinct from neoplasia benign mammary dysplasia DOID:9504, ICD10CM:N60, ICD10WHO:N60, ICD9:610.8, ICD9:610.9, MEDGEN:726820, SCTID:57993004, UMLS:C1305934 Mastitis MONDO:0006849 http://purl.obolibrary.org/obo/MONDO_0006849 Inflammation of breast tissue during lactation or postpartum due to an obstructed duct or infection. Mastitis can also occur in non-breastfeeding women, and rarely in men. breast infection, inflammation of breast, breast inflammation, inflammatory disease of breast DOID:10690, EFO:1001034, MEDGEN:9901, MESH:D008413, MedDRA:10026883, NCIT:C53662, SCTID:45198002, UMLS:C0024894 Breast disorder MONDO:0002657 http://purl.obolibrary.org/obo/MONDO_0002657 A disease involving the breast. disease or disorder of breast, breast disease or disorder, breast disease, breast diseases, breast disorder, disease of breast, disorder of breast DOID:3463, EFO:0009483, ICD10CM:N60-N65, ICD9:610-612, ICD9:611.8, ICD9:611.9, MEDGEN:652, MESH:D001941, NCIT:C26709, SCTID:79604008, UMLS:C0006145 Female genital tract fistula EFO:0009524 http://www.ebi.ac.uk/efo/EFO_0009524 An abnormal communication between a female reproductive system organ and another organ or cavity. [ NCI ] - ICD10:N82, MedDRA:10061149, NCIt:C78298 Female infertility MONDO:0021124 http://purl.obolibrary.org/obo/MONDO_0021124 Diminished or absent ability of a female to achieve conception. female infertility, female reproductive system infertility disorder, female reproductive system infertility, female sterility, female sub-fertility, female subfertility, infertility disorder of female reproductive system, postpartum sterility, sterility, female, sterility, postpartum, sub fertility, female, sub-fertility, female, subfertility, female EFO:0008560, ICD10CM:N97, ICD10WHO:N97, ICD9:628.8, ICD9:628.9, MEDGEN:5795, MESH:D007247, SCTID:6738008, UMLS:C0021361, icd11.foundation:1237004558 Spontaneous abortion EFO:1001255 http://www.ebi.ac.uk/efo/EFO_1001255 Expulsion of the product of FERTILIZATION before completing the term of GESTATION and without deliberate interference. Abortion, spontaneous DOID:722, ICD10:O03, MESH:D000022, MedDRA:10041687, MedDRA:10041699, MedDRA:10041700, MedDRA:10041701, MedDRA:10041702, MedDRA:10041703, MedDRA:10041704, MedDRA:10041705, MedDRA:10041706, MedDRA:10041707, MedDRA:10041708, MedDRA:10041709, MedDRA:10041710, MedDRA:10041711, MedDRA:10041712, MedDRA:10041713, MedDRA:10041714, MedDRA:10041715, MedDRA:10041716, MedDRA:10041717, MedDRA:10041718, MedDRA:10041719, MedDRA:10041720, MedDRA:10041721, MedDRA:10041722, MedDRA:10041723, MedDRA:10041724, MedDRA:10041725, MedDRA:10041726 Excessive vomiting in pregnancy SNOMED:14094001 http://snomed.info/id/14094001 Hyperemesis gravidarum Excessive pregnancy vomiting, Excessive vomiting in pregnancy, Excessive vomiting in pregnancy (disorder), Hyperemesis arising during pregnancy, Hyperemesis gravidarum, Hyperemesis in pregnancy, Hyperemesis of pregnancy, Persistent AND/OR vicious vomiting arising during pregnancy - Placenta praevia MONDO:0005918 http://purl.obolibrary.org/obo/MONDO_0005918 Abnormal placentation in which the placenta implants in the lower segment of the uterus (the zone of dilation) and may cover part or all of the opening of the cervix. It is often associated with serious antepartum bleeding and premature labor. placenta praevia, placenta previa DOID:11060, EFO:0007442, ICD10CM:O44, ICD10WHO:O44, MEDGEN:10782, MESH:D010923, NCIT:C26858, SCTID:36813001, UMLS:C0032046 Premature birth mesh:D063847 http://id.nlm.nih.gov/mesh/D063847 A measure of the size of PLATELETS. Mean Platelet Volume, Mean Platelet Volumes, Platelet Volume, Mean, Platelet Volumes, Mean, Volume, Mean Platelet, Volumes, Mean Platelet - Perineal laceration during delivery EFO:0009816 http://www.ebi.ac.uk/efo/EFO_0009816 A laceration of the skin and other soft tissue structures which, in women, separate the vagina from the anus, occurring during childbirth. perineal tear Wikipedia:Perineal_tear Postpartum depression MONDO:0005929 http://purl.obolibrary.org/obo/MONDO_0005929 A type of clinical depression that occurs after childbirth. depression, post-Natal, depression, post-partum, depression, postnatal, depressive episode with postpartum onset, major depressive episode with peripartum onset, post Natal depression, post partum depression, post-Natal depression, post-partum depression, postnatal depression, postpartum depression DOID:9478, EFO:0007453, ICD10CM:F53.0, MEDGEN:66359, MESH:D019052, NCIT:C92852, SCTID:279225001, UMLS:C0221074 Bacterial pneumonia MONDO:0004652 http://purl.obolibrary.org/obo/MONDO_0004652 Acute infection of the lung parenchyma caused by bacteria (e.g., Streptococcus pneumoniae, Haemophilus influenzae, Chlamydia pneumoniae, Mycoplasma pneumoniae, and Legionella pneumophila). Signs and symptoms include productive cough, fever, chills, shortness of breath, and chest pain. Bacteria caused pneumonia, Bacteria pneumonia, pneumonia due to other gram-negative bacteria DOID:874, EFO:1001272, ICD9:482.89, ICD9:482.9, MEDGEN:484, MESH:D018410, NCIT:C26704, SCTID:53084003, UMLS:C0004626, icd11.foundation:1323682030 Pneumonitis MONDO:0043905 http://purl.obolibrary.org/obo/MONDO_0043905 Pneumonitis typically refers to non-infectious inflammation, whereas pneumonia refers to infectious inflammation of lung parenchyma, lung parenchyma inflammation, pneumonitis EFO:1001991, MEDGEN:811420, NCIT:C113159, SCTID:205237003, UMLS:C3714636, icd11.foundation:1324545867 Abnormality of head or neck HP:0000152 http://purl.obolibrary.org/obo/HP_0000152 An abnormality of head and neck. Abnormality of head or neck, Head and neck abnormality UMLS:C4021817 Abnormal heartbeat MP:0004085 http://purl.obolibrary.org/obo/MP_0004085 anomaly in the appearance of regularly spaced contractions of the heart due to defects in the frequency, rate, pattern or extent of heart contraction abnormal cardiac contraction, abnormal heart beat, abnormal heart beating, abnormal heart contraction, abnormal heart rhythm - Disturbances of skin sensation EFO:0009522 http://www.ebi.ac.uk/efo/EFO_0009522 Disruption of the normal functioning of the sensory nerves in the skin. [ NCI ] - ICD10:R20, MedDRA:10013508, NCIt:C34549 Rash SYMP:0000487 http://purl.obolibrary.org/obo/SYMP_0000487 A skin and integumentary tissue symptom that is characterized by an eruption on the body typically with little or no elevation above the surface. erythema, rubor, skin eruption, skin rash, skin redness ICD9CM_2005:782.1, UMLS_CUI:C0015230, UMLS_ICD9CM_2005_AUI:A0243780 Involuntary movements HP:0004305 http://purl.obolibrary.org/obo/HP_0004305 Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face. Involuntary movements, Involuntary muscle contractions SNOMEDCT_US:102542000, UMLS:C0235086 Gait disturbance HP:0001288 http://purl.obolibrary.org/obo/HP_0001288 Gait disturbances can be caused by neurological or muscular diseases but also fractures or other sources of pain that is triggered upon walking. Gait abnormalities, Gait difficulties, Gait disturbances, Walking disability, Abnormal gait, Abnormal walk, Difficulty in walking, Impaired gait SNOMEDCT_US:22325002, UMLS:C0575081 Retention of urine (disorder) SNOMED:267064002 http://snomed.info/id/267064002 Urinary retention Cannot pass urine to empty bladder, Retention of urine, Retention of urine (disorder), Unable to empty bladder, Urinary retention - Polyuria HP:0000103 http://purl.obolibrary.org/obo/HP_0000103 An excessive volume of urination for an adult is more than 2.5 liters of urine per day. Increased urine output SNOMEDCT_US:28442001, SNOMEDCT_US:56574000, SNOMEDCT_US:718402002, UMLS:C0032617 Neurobehavioral manifestations EFO:0004364 http://www.ebi.ac.uk/efo/EFO_0004364 Signs and symptoms of higher cortical dysfunction caused by organic conditions. These include certain behavioral alterations and impairments of skills involved in the acquisition, processing, and utilization of knowledge or information. cognitive manifestations, cognitive symptoms, neurobehavioral signs and symptoms MESH:D019954 Dizziness and giddiness (finding) SNOMED:271789005 http://snomed.info/id/271789005 Dizziness and giddiness Dizziness - giddy, Dizziness and giddiness, Dizziness and giddiness (finding) - Headache HP:0002315 http://purl.obolibrary.org/obo/HP_0002315 Headache is one of the most common types of recurrent pain as well as one of the most frequent symptoms in neurology. In addition to occasional headaches, there are well-defined headache disorders that vary in incidence, prevalence and duration and can be divided into two broad categories. In secondary headache disorders, headaches are attributed to another condition, such as brain tumor or head injury; for the primary disorders the headache is not due to another condition. Headache, Headaches SNOMEDCT_US:25064002, UMLS:C0018681 Enlarged lymph nodes MP:0000702 http://purl.obolibrary.org/obo/MP_0000702 lymph nodes of increased size adenopathy, increased lymph node size, lymphadenopathy - Hyperhidrosis HP:0000975 http://purl.obolibrary.org/obo/HP_0000975 The terms hyperhidrosis and diaphoresis are often used interchangeably to describe excessive perspiration. Diaphoresis can be used to refer to excessive sweating that occurs with certain diseases (secondary hyperhidrosis). Since the HPO does not intend to provide coess for etiologies or diseases, we will use these terms interchangeably to refer to excessive perspiration without an appropriate cause such as hot and humid weather. Diaphoresis, Excessive sweating, Increased sweating, Profuse sweating, Sweating profusely, Sweating, Sweating, increased SNOMEDCT_US:161857006, SNOMEDCT_US:312230002, SNOMEDCT_US:364538006, SNOMEDCT_US:415690000, SNOMEDCT_US:415691001, SNOMEDCT_US:52613005, UMLS:C0020458, UMLS:C0038990, UMLS:C0700590, MEDDRA:10020642 Blood glucose level CMO:0000046 http://purl.obolibrary.org/obo/CMO_0000046 Measurement of the amount of glucose, the monosaccharide sugar, C6H12O6, occurring widely in plant and animal tissues which is one of the three dietary monosaccharides that are absorbed directly into the bloodstream during digestion, is the end product of carbohydrate metabolism, and is the chief source of energy for living organisms, in a specified volume of blood, the fluid that circulates through the heart, arteries, capillaries and veins carrying nutrients and oxygen to the body tissues and metabolites away from them. fasting blood glucose measurement, glucose measurement EFO:0004468, VT:0000188 Bipolar II disorder EFO:0009964 http://www.ebi.ac.uk/efo/EFO_0009964 A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes. - DOID:0060166, MedDRA:10004940, PMID:31043756 Refractive error MONDO:0004892 http://purl.obolibrary.org/obo/MONDO_0004892 A defect in the focusing of light on the retina as in astigmatism, myopia, or hyperopia. - DOID:9835, MEDGEN:20508, MESH:D012030, SCTID:39021009, UMLS:C0034951 Pulmonary emphysema MONDO:0004849 http://purl.obolibrary.org/obo/MONDO_0004849 A subcategory of chronic obstructive pulmonary disease (COPD). It occurs in people who smoke and suffer from chronic bronchitis. It is characterized by inflation of the alveoli, alveolar wall damage, and reduction in the number of alveoli, resulting in difficulty breathing. emphysema, pulmonary, emphysema DOID:9675, EFO:0000464, ICD10CM:J43, ICD9:492, ICD9:492.8, MEDGEN:18764, MESH:D004646, MESH:D011656, NCIT:C3348, SCTID:87433001, UMLS:C0034067 Tuberculosis MONDO:0018076 http://purl.obolibrary.org/obo/MONDO_0018076 A chronic, recurrent infection caused by the bacterium Mycobacterium tuberculosis. Tuberculosis (TB) may affect almost any tissue or organ of the body with the lungs being the most common site of infection. The clinical stages of TB are primary or initial infection, latent or dormant infection, and recrudescent or adult-type TB. Ninety to 95% of primary TB infections may go unrecognized. Histopathologically, tissue lesions consist of granulomas which usually undergo central caseation necrosis. Local symptoms of TB vary according to the part affected; acute symptoms include hectic fever, sweats, and emaciation; serious complications include granulomatous erosion of pulmonary bronchi associated with hemoptysis. If untreated, progressive TB may be associated with a high degree of mortality. This infection is frequently observed in immunocompromised individuals with AIDS or a history of illicit IV drug use. active tuberculosis, Kochs disease, TB, tuberculosis disease DOID:399, GARD:0007827, ICD10CM:A15-A19, ICD10WHO:A15-A19, ICD9:017.90, ICD9:017.92, ICD9:017.94, ICD9:017.96, MEDGEN:22513, MESH:D014376, MedDRA:10044755, NCIT:C3423, NORD:1801, Orphanet:3389, SCTID:56717001, UMLS:C0041296, icd11.foundation:2072728114 Bringing up phlegm, sputum or mucus on most days, self-reported EFO:0009824 http://www.ebi.ac.uk/efo/EFO_0009824 Indication of whether an individual brings up phlegm, sputum or mucus on most days, as reported by the individual. - - Cancer MONDO:0004992 http://purl.obolibrary.org/obo/MONDO_0004992 A tumor composed of atypical neoplastic, often pleomorphic cells that invade other tissues. Malignant neoplasms often metastasize to distant anatomic sites and may recur after excision. The most common malignant neoplasms are carcinomas (adenocarcinomas or squamous cell carcinomas), Hodgkin and non-Hodgkin lymphomas, leukemias, melanomas, and sarcomas. malignant neoplasm (disease), CA, MT, cancer, cell type cancer, malignancy, malignant growth, malignant neoplasm, malignant neoplastic disease, malignant tumor, malignant tumour, neoplasm (disease), malignant, neoplasm, malignant DOID:0050686, DOID:0050687, DOID:162, ICD9:195.8, ICD9:199, ICD9:199.1, ICDO:8000/3, MEDGEN:14297, NCIT:C9305, ONCOTREE:MT, SCTID:363346000, UMLS:C0006826, birnlex:406 Able to hear with hearing aids EFO:0009720 http://www.ebi.ac.uk/efo/EFO_0009720 A measurement indicating ability of an individual to hear what was said with hearing aids. - NCIt:C156149 Acute myeloid leukemia MONDO:0018874 http://purl.obolibrary.org/obo/MONDO_0018874 Acute myeloid leukemia (AML) is a group of neoplasms arising from precursor cells committed to the myeloid cell-line differentiation. All of them are characterized by clonal expansion of myeloid blasts. AML manifests by fever, pallor, anemia, hemorrhages and recurrent infections. acute myeloid leukemia, somatic, leukemia, acute myeloid, leukemia, acute myeloid, autosomal dominant, somatic mutation, leukemia, acute myeloid, reduced survival in, somatic, leukemia, acute myeloid, somatic, leukemia, acute myeloid, susceptibility to, autosomal dominant, somatic mutation, myeloid leukemia, acute, M4/M4Eo subtype, somatic, AML - acute myeloid leukaemia, AML - acute myeloid leukemia, AML, ANLL, acute Nonlymphocytic leukaemia, acute Nonlymphocytic leukemia, acute granulocytic leukaemia, acute granulocytic leukemia, acute myeloblastic leukemia, acute myelocytic leukaemia, acute myelocytic leukemia, acute myelogenous leukemia, acute myelogenous leukemias, acute myeloid leukaemia (AML), acute myeloid leukemia (AML), acute myeloid leukemia, acute non lymphoblastic leukaemia, acute non lymphoblastic leukemia, acute nonlymphocytic leukaemia, acute nonlymphocytic leukemia, hematopoeitic - acute Myleogenous leukaemia (AML), hematopoeitic - acute Myleogenous leukemia (AML), leukemia, myelocytic, acute, myeloid leukemia, acute DOID:9119, EFO:0000222, GARD:0012757, ICD10CM:C92.0, ICD9:205.0, ICD9:205.00, ICDO:9861/3, MEDGEN:9730, MESH:D015470, MedDRA:10000880, NCIT:C3171, NORD:1905, OMIM:601626, ONCOTREE:AML, Orphanet:519, SCTID:91861009, UMLS:C0023467 Lung Diseases, Interstitial mesh:D017563 http://id.nlm.nih.gov/mesh/D017563 A diverse group of lung diseases that affect the lung parenchyma. They are characterized by an initial inflammation of PULMONARY ALVEOLI that extends to the interstitium and beyond leading to diffuse PULMONARY FIBROSIS. Interstitial lung diseases are classified by their etiology (known or unknown causes), and radiological-pathological features. Lung Diseases, Interstitial, Diffuse Parenchymal Lung Diseases, Interstitial Lung Diseases, Interstitial Lung Disease, Lung Disease, Interstitial, Diffuse Parenchymal Lung Disease, Pneumonia, Interstitial, Interstitial Pneumonia, Interstitial Pneumonias, Pneumonias, Interstitial, Pneumonitis, Interstitial, Interstitial Pneumonitides, Interstitial Pneumonitis, Pneumonitides, Interstitial - Tinnitus MONDO:0700322 http://purl.obolibrary.org/obo/MONDO_0700322 A central nervous system dysperception disorder characterized by the perception of a sound not justified by any internal or external vibration, lasting at least 5 minutes and occurring more than once a week, arising from maladaptive neuroplasticity secondary to an organic cochlear peripheral lesion, and classifiable as positive auditory hallucinosis in the absence of delusional attitudes or behaviors. - ICD10CM:H93.1 Regulation of heart rate GO:0002027 http://purl.obolibrary.org/obo/GO_0002027 Any process that modulates the frequency or rate of heart contraction. regulation of heart contraction rate, regulation of rate of heart contraction, cardiac chronotropy - Vitamin deficiency disorder MONDO:0024298 http://purl.obolibrary.org/obo/MONDO_0024298 A disorder that is caused by the deficiency of a vitamin. The deficiency may result from either suboptimal vitamin intake or conditions that prevent the vitamin's use or absorption in the body. Representative examples include beriberi caused by thiamine deficiency, scurvy caused by vitamin C deficiency, and rickets caused by vitamin D deficiency. Avitaminoses, avitaminosis, deficiencies, vitamin, deficiency, vitamin, vitamin deficiencies, vitamin deficiency disorder, vitamin deficiency ICD9:269.1, ICD9:269.2, MEDGEN:267607, MESH:D001361, NCIT:C35772, SCTID:85670002, UMLS:C1510471 Meniere disease MONDO:0007972 http://purl.obolibrary.org/obo/MONDO_0007972 A disease of the inner ear (labyrinth) that is characterized by fluctuating sensorineural hearing loss; tinnitus; episodic vertigo; and aural fullness. It is the most common form of endolymphatic hydrops. Mnire's vertigo, otogenic vertigo OMIT:0009641, mesh:D008575