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Male | 56 | c3203653 | IgG4-related disease | heat intolerance (time since onset: more than one year), reduced exercise tolerance (time since onset: more than one year), fatigue, dyspepsia/indigestion (time since onset: more than one year repeat consult: yes), malaise (time since onset: more than one year), myalgia, dyspnea (repeat consult: yes time since onset: more than one year severity: on exertion), flatulence (dairy products: no effect), constipation (time since onset: more than one year repeat consult: yes), headache (laterality: unilateral throbbing quality: yes repeat consult: yes intensity: severe time since onset: more than one year) impaired vision (time since onset: more than one year), polyuria (time since onset: one month to one year), blood pressure, tremor (time since onset: one month to one year), dry throat, dry mouth (time since onset: more than one year), cough (time since onset: more than one year repeat consult: yes clear or yellow phlegm: no), IgG4 level (result: elevated), hematuria, feeling of heavy legs, dermatitis, dry skin, foreign body sensation in the eye, predominance of IgG4 positive plasma cells in histopathology | polydipsia, airway obstruction wheezing on auscultation | null | null |
Female | 63 | c0036202 | Sarcoidosis | malaise, spots on the knee (color: purple), Lymphadenopathy on palpation, high blood pressure, headache, nausea, impaired vision (laterality: bilateral), cough (clear or yellow phlegm: no bloody: no), dyspnea, peripheral edema (pitting), spots on the lower extremity (color: purple with elevated margin and central clearing: no with black dots on surface: no scaly surface: no) renal insufficiency, bacteria in urine, microhematuria, leukocyturia, nitrituria, interstitial nephritis, nephrosclerosis, renal cysts, liver cyst, steatosis hepatis, hilar lymphadenopathy (laterality: bilateral), mediastinal lymphadenopathy, pulmonary radiopacity, microalbuminuria | hypercalcemia glomerulonephritis, restrictive ventilation pattern mixed pattern in spirometry obstructive ventilation pattern | null | null |
Female | 60 | c0034152 | Henoch-Schonlein Purpura (HSP) | spots on the lower extremity (color: purple time since onset: one week to one month) groin pain (time since onset: one week to one month), purpura, lower extremity pain (laterality: bilateral time since onset: one week to one month) swelling of the lower leg (laterality: bilateral time since onset: one week to one month) urinary tract infection, leukocytoclastic vasculitis | antinuclear antibody level, elevated, antineutrophil cytoplasmic antibodies present, perinuclear anti-neutrophil cytoplasmic antibodies present cytoplasmic antineutrophil cytoplasmic antibodies present complement C4 level, complement C3 level, serum complement level, elevated rheumatoid factor, free T3, free T4, thyroglobulin antibodies, thyroid peroxidase antibodies, hepatitis C virus, deep vein thrombosis | null | null |
Female | 57 | c0008728 | Eosinophilic Granulomatosis with Polyangiitis (EGPA) | dyspnea (severity: daily activities) pulmonary nodules, eosinophils in bronchoalveolar lavage Total IgE level, elevated, eosinophilia in blood, anti-cyclic citrullinated protein antibodies | malignant cells in pulmonary tissue, perinuclear anti-neutrophil cytoplasmic antibodies present cytoplasmic antineutrophil cytoplasmic antibodies present | null | null |
Female | 32 | c0014805, c1720983 | Small Fiber Neuropathy ENaC, CFTR channelopathy | dyspepsia/indigestion, painful dysesthesia of the hand (distribution: symmetrical) painful dysesthesia of the foot (distribution: symmetrical) arthralgia, neutropenia, lymphocytosis, creatine kinase level, elevated, muscular atrophy of the lower limb, diminished deep tendon reflexes, vitamin B12 level (result: reduced), myopia, double vision, airway obstruction, hyperventilation, painful dysesthesia, steatorrhea, dry skin | erythrocyte sedimentation rate, CRP, elevated, antinuclear antibody level, elevated anti-cyclic citrullinated protein antibodies IgG level, IgA level, IgM level, pyramidal signs, pathological visual evoked potentials pathological acoustic evoked potentials helicobacter pylori in stomach/duodenum alpha-1 antitrypsin level, decreased, fecal calprotectin, elevated, CFTR gene mutation | null | null |
Male | 25 | c3495801 | Granulomatosis with Polyangiitis (GPA) | swelling, ankle joint (laterality: unilateral time since onset: one month to one year) blue skin, foot (time since onset: one month to one year laterality: unilateral), ear swelling (bilateral distribution: yes), glomerular filtration rate, reduced, serum creatinine level (result: elevated), proteinuria, hematuria, dysmorphic RBCs in urine, cytoplasmic antineutrophil cytoplasmic antibodies present proteinase 3 antibody titer, elevated, CRP, elevated, anemia, alanine transaminase level, elevated aspartate transaminase level, elevated swelling of the nasal and sinus mucosa | pulmonary nodules pulmonary infiltrates pulmonary cavitation | null | null |
Male | 22 | c3495801 | Granulomatosis with Polyangiitis (GPA) | sensory deficit, lower leg (distribution: bilateral, symmetrical time since onset: one month to one year) lower extremity pain (laterality: bilateral time since onset: one month to one year), peripheral polyneuropathy, lower extremity paresis (laterality: bilateral time since onset: one month to one year), hearing deficit (laterality: unilateral time since onset: one month to one year) rhinitis, gait impairment (time since onset: one month to one year), pulmonary cavitation, cytoplasmic antineutrophil cytoplasmic antibodies present proteinase 3 antibody titer, elevated, steatosis hepatis, hepatomegaly, liver cyst, splenomegaly, splenic mass seen on imaging, pericardial effusion, insomnia (time since onset: one month to one year) | null | null | null |
Male | 54 | c3495801 | Granulomatosis with Polyangiitis (GPA) | cough (time since onset: more than one year repeat consult: yes bloody: yes) pulmonary radiopacity, hemoptysis (time since onset: more than one year), CRP, elevated, leukocytosis, fever (high grade: no), urinary urgency, episcleritis, pulmonary nodules, hemoglobin level (result: reduced) sinusitis | mycobacterium tuberculosis in lower respiratory tract legionella pneumophila in lower respiratory tract fungi in lower respiratory tract, bronchiectasis | null | null |
Female | 34 | c0035615 | Takayasu's arteritis | fatigue, CRP, elevated, erythrocyte sedimentation rate (result: elevated), circumferential thickening of the carotid artery wall, anterior neck pain (position: lateral time since onset: one month to one year) cervical lymphadenopathy, vasculitis | diarrhea, constipation, abdominal pain dyspepsia/indigestion, abdominal mass seen on imaging ascites, splenomegaly hepatomegaly cholecystitis abnormal bile duct gallstone, carotid bruit, stenosis of the carotid artery obstruction of subclavian veins, aortitis, stenosis of the ascending aorta, arterial aneurysm of the thoracic aorta arterial aneurysm of the abdominal aorta stenosis of the renal artery | null | null |
Female | 70 | c1956391 | Giant Cell Arteritis | reduced exercise tolerance (time since onset: one month to one year) headache (time since onset: one month to one year intensity: severe) jaw claudication, facial pain, erythrocyte sedimentation rate (result: elevated) leukocyte level (result: elevated), syncope, temporary loss of consciousness, nausea, vomiting, malaise, facial pallor, weight loss, hyperhidrosis, generalized chills, multinucleated giant cells | fever | null | null |
Female | 27 | c3495801 | Granulomatosis with Polyangiitis (GPA) | feeling of heavy legs (time since onset: one month to one year) epistaxis (time since onset: one month to one year), fever (time since onset: one month to one year), malaise (time since onset: one month to one year repeat consult: yes) myalgia (time since onset: one month to one year), hearing deficit (laterality: bilateral time since onset: one month to one year) otalgia, lower extremity pain (laterality: bilateral), gait impairment, fatigue, CRP, elevated, cytoplasmic antineutrophil cytoplasmic antibodies present proteinase 3 antibody titer, elevated | perinuclear anti-neutrophil cytoplasmic antibodies present | null | null |
Female | 37 | c3495801 | Granulomatosis with Polyangiitis (GPA) | otitis media, necrosis of the toes (time since onset: one month to one year) peripheral hypoperfusion, peripheral cyanosis (time since onset: one month to one year) generalized arthralgia (time since onset: one month to one year) peripheral polyneuropathy, pleural effusion, pericardial effusion | null | null | null |
Female | 60 | c3495801 | Granulomatosis with Polyangiitis (GPA) | ankle pain (laterality: unilateral time since onset: more than one year) hyperpigmentation of the lower extremity, CRP, elevated, leukocytosis, lymphocytosis, periosteal thickening, fever (time since onset: more than one year), cough (time since onset: more than one year), cytoplasmic antineutrophil cytoplasmic antibodies present pulmonary nodules, thrombocytosis, normocytic anemia, mean corpuscular hemoglobin (result: reduced) unexplained fracture, tricuspid valve regurgitation on imaging, alkaline phosphatase level (result: elevated), erythrocyte sedimentation rate (result: elevated), gamma gt level, elevated, alanine transaminase level, elevated, saddle nose deformity, myalgia, proteinase 3 antibody titer, elevated | pneumonia, endocarditis, hepatitis C virus, Hepatitis B virus, Lyme-specific IgM level, elevated Lyme-specific IgG level, elevated antinuclear antibody level, elevated anti-Sm antibodies, anti-dsDNA antibodies anticardiolipin antibodies, elevated pulmonary infiltrates, aortitis, iron level, pleural effusion, hepatic mass seen on imaging liver cirrhosis, hepatomegaly, liver abscess | alcohol abuse | null |
Male | 56 | c3495801 | Granulomatosis with Polyangiitis (GPA) | localized arthralgia (laterality: bilateral), epistaxis (time since onset: one month to one year), nasal discharge (time since onset: one month to one year appearance: crusty) microhematuria, antineutrophil cytoplasmic antibodies present, influenza A virus subtype H1N1 in respiratory tract, pulmonary infiltrates, CRP, elevated, glomerular filtration rate, reduced, hemoptysis | serum creatinine level | null | null |
Female | 19 | c3495801 | Granulomatosis with Polyangiitis (GPA) | reduced exercise tolerance, sinus pain (time since onset: more than one year) otitis media, headache (intensity: severe), knee pain (laterality: bilateral), elbow pain (laterality: bilateral), fever | null | null | null |
Female | 26 | c3495801 | Granulomatosis with Polyangiitis (GPA) | elbow pain (intensity: severe time since onset: one month to one year) shoulder pain (intensity: severe time since onset: one month to one year) knee pain (intensity: severe time since onset: one month to one year) nasal discharge (time since onset: one month to one year), sinus pain (time since onset: one month to one year), fever (time since onset: one month to one year), reduced exercise tolerance (time since onset: one month to one year) conjunctivitis (distribution pattern: bilateral), cough (bloody: yes clear or yellow phlegm: yes), pulmonary hemorrhage, renal insufficiency, oliguria, glomerulonephritis | epistaxis dyspnea microhematuria | null | null |
Male | 50 | c3495801 | Granulomatosis with Polyangiitis (GPA) | rhinitis, hemoptysis, headache, knee pain (laterality: bilateral) ankle pain (laterality: bilateral) wrist pain (laterality: bilateral) high blood pressure generalized arthralgia, hearing deficit (laterality: unilateral) | null | null | null |
Female | 45 | c0010403 | Cryoglobulinemia | recurrent respiratory tract infections leukocytoclastic vasculitis, pathologically increased cryoglobulin level IgM monoclonal antibody mesangiocapillary glomerulonephritis | axillary lymphadenopathy cervical lymphadenopathy supraclavicular lymphadenopathy lower airway obstruction | null | null |
Male | 57 | c0010403 | Cryoglobulinemia | reduced exercise tolerance dyspnea, headache (intensity: severe) nausea, abdominal pain, high blood pressure, pleural effusion, generalized lymphadenopathy, splenomegaly, renal insufficiency, proteinuria, metabolic acidosis, serum creatinine level (result: elevated), serum albumin level (result: reduced), CRP, elevated, BNP in serum, elevated, d-dimer level in blood, elevated, hematuria, complement C3 level (result: reduced) complement C4 level (result: reduced), IgG level (result: reduced), beta 2 microglobulin level, elevated, vascular markings of the lung (result: elevated) lobar consolidation, pulmonary infiltrates (laterality: bilateral) swelling, ankle joint (laterality: bilateral), ankle pain (laterality: bilateral), effusion, ankle, purpura, nephrotic syndrome, mesangiocapillary glomerulonephritis pathologically increased cryoglobulin level | antinuclear antibody level, elevated, cytoplasmic antineutrophil cytoplasmic antibodies present perinuclear anti-neutrophil cytoplasmic antibodies present anti-GBM antibodies present, Bence-Jones protein | null | null |
Female | 52 | c2609059 | Antisynthetase Syndrome | reduced exercise tolerance (time since onset: more than one year) fatigue, fever (time since onset: more than one year), knee pain (laterality: unilateral time since onset: more than one year) CRP, elevated, lymphocytosis, swelling of the foot (laterality: unilateral time since onset: more than one year), dyspnea (severity: on exertion time since onset: more than one year repeat consult: yes) air-fluid levels in the sinus, cough (clear or yellow phlegm: no time since onset: more than one year repeat consult: yes) weight loss, malaise (time since onset: more than one year), sinus pain (time since onset: more than one year), swelling, ankle joint (laterality: unilateral time since onset: more than one year), peripheral edema (pitting) (time since onset: more than one year), lymphocytosis in bronchoalveolar lavage, mitral valve regurgitation on imaging, high blood pressure (time since onset: more than one year), enlarged thyroid gland, CD4+ to CD8+ ratio (result: elevated), ground-glass opacities, vascular markings of the lung (result: elevated), swelling of the nasal and sinus mucosa, hyperhidrosis, generalized (night sweats: yes time since onset: more than one year), general muscle weakness (time since onset: more than one year), antinuclear antibody level, elevated, anti-SRP antibodies, toe pain (laterality: bilateral time since onset: more than one year) | pulmonary infiltrates pulmonary embolism, anti-Sm antibodies anti-U1-RNP antibodies anti-SSA autoantibodies anti-La (SS-B)-autoantibodies anti-Scl-70, anti-Jo 1 antibodies, glomerular filtration rate, reduced pulmonary nodules, pleural effusion, hilar lymphadenopathy mediastinal lymphadenopathy | null | null |
Female | 60 | c2609059 | Antisynthetase Syndrome | reduced exercise tolerance (time since onset: more than one year) dyspnea (severity: daily activities time since onset: one month to one year) foot pain (laterality: unilateral time since onset: one month to one year) diffusion capacity (result: reduced), leukopenia, dizziness (time since onset: one month to one year), weight loss, creatine kinase level, elevated, ground-glass opacities, pulmonary fibrosis, anti-PL 7 antibodies | arthralgia headache | null | diabetes mellitus |
Male | 48 | c0004943 | Behcet's disease | fever (time since onset: more than one year high grade: no) CRP, elevated, sinusitis, leukocytosis, leukocyte 'left shift', erythema nodosum, retinitis, aphthous ulcerations of the oral cavity erythrocyte sedimentation rate (result: elevated) gamma gt level, elevated, alkaline phosphatase level (result: elevated) alpha 2 globulin level (result: elevated) swelling of the nasal and sinus mucosa cervical lymphadenopathy, mediastinal lymphadenopathy thrombocytosis, swelling, knee | antinuclear antibody level, elevated anti-dsDNA antibodies, hilar lymphadenopathy, pulmonary radiopacity, pulmonary infiltrates | null | null |
Male | 67 | c0085655, c0566602 | Polymyositis, Primary sclerosing cholangitis | creatine kinase level, elevated, myalgia (time since onset: one month to one year), upper extremity paresis (time since onset: one month to one year) proteinuria (intensity: moderate to severe), serum creatinine level (result: elevated), glomerular filtration rate, reduced, antinuclear antibody level, elevated, atrial fibrillation, left axis deviation, left fascicular hemiblock, serum cardiac troponin level, elevated, stenosis of the arteries of the leg, stenosis of the coronary artery, muscle necrosis, steatosis hepatis, aspartate transaminase level, elevated, alanine transaminase level, elevated, gamma gt level, elevated, antimitochondrial antibody, arrhythmias on ECG, BNP in serum, elevated, proximal lower extremity paresis (time since onset: one month to one year) | cardiac CK-MB level, elevated anticardiolipin antibodies, elevated anti-dsDNA antibodies | diabetes mellitus | null |
Female | 31 | c0034152 | Henoch-Schonlein Purpura (HSP) | petechiae, headache, bad taste in mouth, malaise, mesangiocapillary glomerulonephritis | chills, pruritus, hemoglobin level, platelet count, antinuclear antibody level, elevated elevated rheumatoid factor leukocyte level, sinus pain | null | null |
Female | 17 | c0024141 | Systemic Lupus Erythematosus (SLE) | malaise, reduced exercise tolerance, antinuclear antibody level, elevated anti-dsDNA antibodies, serum complement level (result: reduced) nephrotic syndrome, proteinuria (intensity: moderate to severe) serum creatinine level (result: elevated) pericardial effusion, polyserositis, pericarditis, anemia, renal insufficiency | null | null | null |
Female | 21 | c0024141 | Systemic Lupus Erythematosus (SLE) | fever (high grade: yes), myalgia, abdominal pain (position: epigastric) fatigue, arthralgia, reduced exercise tolerance, diarrhea, proteinuria, pancytopenia, splenomegaly, fluid in recto-uterine pouch peritonism, proof of acute pancreatitis, volume depletion, general muscle weakness, ascites, anti-dsDNA antibodies, anti-Sm antibodies, creatine kinase level, elevated, lactate dehydrogenase level, elevated | null | null | Hx: recent infection |
Female | 24 | c0024141, c0026272 | Systemic Lupus Erythematosus (SLE), Mixed connective tissue disease (MCTD) | tricolor pattern of discoloration of the fingers and toes (time since onset: more than one year) foamy urine (time since onset: one month to one year), peripheral edema (pitting) (time since onset: one month to one year), dyspnea (severity: daily activities), amenorrhea, dysphagia, glomerular filtration rate, reduced glomerulonephritis, anti-U1-RNP antibodies, anti-Sm antibodies, anti-dsDNA antibodies, partial thromboplastin time (result: prolonged) hematuria, proteinuria, renal insufficiency, microcytic anemia, arthritis, polyserositis, hepatomegaly, splenomegaly, cachexia, anti-SSA autoantibodies | null | null | null |
Female | 39 | c1527336, c0024141 | Sjogren's syndrome, Systemic Lupus Erythematosus (SLE) | leukopenia, hemoglobin level (result: reduced) dry mouth, dry eye, diarrhea, anti-alpha-fodrin antibodies missed menstruation | null | null | null |
Male | 36 | c3495801 | Granulomatosis with Polyangiitis (GPA) | epistaxis (time since onset: more than one year repeat consult: yes), sneezing (time since onset: one month to one year), swelling of the nasal and sinus mucosa, elbow pain (time since onset: one month to one year laterality: bilateral), knee pain (time since onset: one month to one year laterality: bilateral), ankle pain (time since onset: one month to one year laterality: bilateral), nasal discharge (appearance: crusty time since onset: one month to one year) hemoptysis, spots on the upper extremity (color: purple pruritus: no) swelling, wrist | null | null | null |
Male | 33 | c0034152 | Henoch-Schonlein Purpura (HSP) | spots on the lower extremity (color: purple pruritus: no time since onset: one week to one month) spots on the trunk (color: purple pruritus: no time since onset: one week to one month), spots on the upper extremity (color: purple pruritus: no time since onset: one week to one month) swelling, wrist (time since onset: one week to one month), weight gain, swelling of the lower extremity, foamy urine, dyspnea, post-nasal drip, mesangiocapillary glomerulonephritis proteinuria (intensity: moderate to severe) cholesterol level (result: elevated) triglyceride level (result: elevated) nephrotic syndrome, peripheral edema (pitting), dysmorphic RBCs in urine | epistaxis, hemoptysis, antinuclear antibody level, elevated, antineutrophil cytoplasmic antibodies present anti-dsDNA antibodies, Hepatitis B virus, confirmed human immunodeficiency virus infection IgG level, hyperproteinemia | null | elevated BMI |
Female | 48 | c0036202 | Sarcoidosis | facial nerve palsy (position: peripheral time since onset: one month to one year) hearing deficit (time since onset: one month to one year laterality: bilateral) dizziness (time since onset: one week to one month), mastoiditis, rapid pulse, palpitation, weight loss, irregular menstrual bleeding, vesicle in the oral cavity (time since onset: one month to one year), swelling, ankle joint (time since onset: one month to one year laterality: unilateral) vertigo (time since onset: one month to one year), complement C3 level (result: reduced) complement C4 level (result: reduced) anticardiolipin antibodies, elevated Melkersson-Rosenthal syndrome | anti-SSA autoantibodies, anti-La (SS-B)-autoantibodies, anti-U1-RNP antibodies, anti-Sm antibodies, anti-Scl-70, anti-Jo 1 antibodies, anti-dsDNA antibodies, anti-alpha-fodrin antibodies, cytoplasmic antineutrophil cytoplasmic antibodies present perinuclear anti-neutrophil cytoplasmic antibodies present antinuclear antibody level, elevated | null | null |
Male | 35 | c0162323, c0031069 | Chronic Polyarthritis, Familial Mediterranean Fever (FMF) | se/lsbuobwtroppaicns(time since onset: more than one year laterality: bilateral) knee pain, patellar (time since onset: more than one year), morning stiffness (time since onset: more than one year), acne, swelling, knee (laterality: unilateral time since onset: more than one year) foot pain (laterality: bilateral time since onset: more than one year) tenderness, knee (laterality: unilateral time since onset: more than one year) tenderness, wrist (laterality: unilateral time since onset: more than one year) effusion, knee, toe pain (laterality: bilateral time since onset: more than one year) creatine kinase level, elevated, polyuria, polydipsia, fatigue, headache, IgG4 level (result: elevated), tenderness, MCP joints (time since onset: more than one year laterality: bilateral) MEFV gene mutation | Lymphadenopathy on palpation enlarged thyroid gland erythema of the oral cavity effusion, ankle, fever, double vision, disorientation, facial pallor, elevated rheumatoid factor, anti-cyclic citrullinated protein antibodies antinuclear antibody level, elevated anti-Sm antibodies, anti-U1-RNP antibodies, anti-SSA autoantibodies, anti-La (SS-B)-autoantibodies anti-Scl-70, anti-Jo 1 antibodies, anti-alpha-fodrin antibodies, serum complement level, anti-dsDNA antibodies | null | Recent travel to tropic elevated BMI |
Female | 55 | c0031069 | Familial Mediterranean Fever (FMF) | fever (time since onset: more than one year high grade: no), myalgia (time since onset: more than one year), arthralgia (time since onset: more than one year), hyperhidrosis, generalized (night sweats: yes time since onset: more than one year) dyspnea (severity: on exertion), CRP, elevated, reduced exercise tolerance diverticula, splenomegaly, steatosis hepatis, ovarian cyst seen on imaging | leukocytosis, antinuclear antibody level, elevated antineutrophil cytoplasmic antibodies present antimitochondrial antibody anti-smooth-muscle antibodies, vasculitis | null | elevated BMI Hx: hypertension diabetes mellitus |
Male | 59 | c2930851 | Whipple disease | swelling, wrist (time since onset: more than one year), swelling, ankle joint (laterality: bilateral time since onset: more than one year), swelling, finger joints (time since onset: more than one year), swelling, toe joint (time since onset: more than one year), swelling, knee (time since onset: more than one year), wrist pain (time since onset: more than one year laterality: bilateral), ankle pain (time since onset: more than one year laterality: bilateral), finger joint pain (laterality: bilateral time since onset: more than one year), toe pain (laterality: bilateral time since onset: more than one year), knee pain (laterality: bilateral time since onset: more than one year), generalized arthralgia (time since onset: more than one year), effusion, wrist, tendinitis, hand and wrist, CRP, elevated, gamma gt level, elevated, uric acid level (result: elevated), peripheral edema (pitting), back pain (time since onset: more than one year), hip pain (time since onset: more than one year), paresthesia of the hand (distribution: asymmetrical time since onset: more than one year) feeling of lump in the throat, hyperhidrosis, generalized (night sweats: yes time since onset: more than one year) arthritis (time since onset: more than one year), effusion, knee, effusion, ankle, right ventricular pressure, elevated, pulmonary hypertension, erythrocyte sedimentation rate (result: elevated), antinuclear antibody level, elevated, helicobacter pylori in stomach/duodenum, erosions and ulcerations of the stomach, mesenteric lymphadenopathy, morning stiffness, reduced exercise tolerance, abdominal pain (position: upper left quadrant), flank pain (side: left), abdominal tenderness, loss of appetite, weight loss, steatosis hepatis, elevated skin temperature of the joint, myalgia, elevated skin temperature of the ankle, anti-SRP antibodies, fever, Tropheryma whipplei | elevated rheumatoid factor, antineutrophil cytoplasmic antibodies present anti-cyclic citrullinated protein antibodies HLA-B27 positive, alanine transaminase level, elevated aspartate transaminase level, elevated anti-U1-RNP antibodies, anti-Sm antibodies, anti-SSA autoantibodies, anti-La (SS-B)-autoantibodies, anti-Scl-70, anti-Jo 1 antibodies | null | smoker elevated BMI |
Male | 28 | c0035615 | Takayasu's arteritis | sf/astuigbuteropics, pruritus, upper extremity (time since onset: one month to one year), pruritus, lower extremity (time since onset: one month to one year), fever (time since onset: one month to one year), cough (clear or yellow phlegm: yes time since onset: one month to one year) sputum (bloody: no time since onset: one month to one year), nasal discharge (time since onset: one month to one year), dyspnea (time since onset: one month to one year), left ventricular dilatation, cardiac ejection fraction (result: reduced), pericardial effusion, serum cardiac troponin level, elevated, dilated cardiomyopathy, renal insufficiency, glomerular filtration rate, reduced, myocarditis, hypertrophic cardiomyopathy | stenosis of the coronary artery, antinuclear antibody level, elevated antineutrophil cytoplasmic antibodies present | null | Recent travel to tropic Hx: hypertension |
Female | 57 | c0085655, c0011644 | Polymyositis, scleroderma overlap | hip pain (laterality: bilateral intensity: severe time since onset: more than one year), gait impairment, paresthesia of the lower extremity (distribution: symmetrical time since onset: one month to one year), lower leg pain (laterality: bilateral time since onset: one month to one year), chills (time since onset: one month to one year), hyperhidrosis, generalized (night sweats: yes paroxysmal sweats: yes time since onset: more than one year) flushing (time since onset: one month to one year), alopecia (time since onset: one month to one year), loose teeth, headache (time since onset: one month to one year), palpitation (time since onset: one month to one year), high blood pressure (time since onset: one month to one year), agitation, lower extremity pain (laterality: bilateral time since onset: one month to one year), erythema of the trunk, erythema of the cheeks, erythema of the thigh, vaginal wall bleeding, Insulin-like growth factor 1 level (result: elevated), lowered skin temperature of the leg, lowered skin temperature of the foot, MCP I joint pain (laterality: bilateral), limited range of motion of the MCP I joint, painful dysesthesia of the lower extremity (distribution: symmetrical), groin pain, vertigo, facial pain, sinus pain, swelling of the nasal and sinus mucosa, gastroesophageal reflux, polydipsia, feeling of lump in the throat, temporomandibular joint pain, crepitus, temporomandibular joint, disc displacement of the temporomandibular joint, bone degeneration of the temporomandibular joint, finger joint pain (laterality: bilateral), tenderness, finger joint (laterality: bilateral), tenderness, hip (laterality: bilateral), lower back pain, lowered skin temperature of the hand, morning stiffness, swelling, PIP joints (finger), anti-PmScl antibody titer, antinuclear antibody level, elevated, periorbital pain, anti-PL 12 antibodies, proteinuria, glomerular filtration rate, reduced, flank pain, leukocyturia, brain white matter lesion, pruritus, trunk, pruritus, palms, erythema nodosum | fever, diminished lower extremity pulse, deep vein thrombosis in the lower extremity pulmonary embolism, intracerebral mass, aneurysm of the intracranial arteries increased intracranial pressure, air-fluid levels in the sinus, serum cardiac troponin level, elevated sinusitis, thyroid stimulating hormone level, enlarged thyroid gland, hearing deficit, leukocyte glucocerebrosidase activity limited range of motion of hip joint, EMG abnormalities, slowed nerve conduction velocity, creatine kinase level, elevated, anti-dsDNA antibodies, elevated rheumatoid factor, anti-Sm antibodies, anti-SSA autoantibodies, anti-La (SS-B)-autoantibodies, anti-U1-RNP antibodies, anti-Scl-70, anti-Jo 1 antibodies, MI-2 antibody titer, anti-EJ antibodies, anticardiolipin antibodies, elevated anti-alpha-fodrin antibodies, complement C3 level, complement C4 level | null | null |
Female | 28 | c0035615 | Takayasu's arteritis | sc/hseuebktroppaicns(time since onset: one month to one year), otalgia (time since onset: one month to one year), facial pain (time since onset: one month to one year), anterior neck pain (position: lateral time since onset: one month to one year) dizziness (time since onset: one month to one year), headache (laterality: unilateral time since onset: one month to one year) erythrocyte sedimentation rate (result: elevated), stenosis of the carotid artery, vasculitis, reduced exercise tolerance epistaxis | weight loss, hyperhidrosis, generalized, chest pain, syncope, dyspnea, tricolor pattern of discoloration of the fingers and toes impaired vision, arthralgia, skin rash, paresthesia, muscle cramps, dysuria, stenosis of the renal artery | null | Recent travel to tropic |
Male | 45 | c0040021, c0006272 | Thrombangiitis obliterans, Panarteritis nodosa | thrombosis, portal vein, deep vein thrombosis in the lower extremity, generalized lymphadenopathy, splenic artery thrombosis, malaise, fever, foot pain, lower back pain, cachexia, peripheral edema (pitting) (laterality: bilateral), oropharyngeal candidiasis, submandibular lymphadenopathy (consistency: soft mobility: mobile tenderness: non-tender) erythema of the palm, caput medusae, hepatomegaly, necrosis of the toes, blue skin, foot, vasculitis | antiphospholipid antibodies, elevated plasma cell infiltration, cough, sputum, disorientation, partial loss of consciousness distended jugular veins, scleral icterus, change in pupil diameter anisocoria, conjunctival injection oculomotor nerve palsy, dry mouth, cranial nerve disorder, enlarged thyroid gland, axillary lymphadenopathy inguinal lymphadenopathy, facial pallor, jaundice, cyanosis, prolonged capillary refill, spider angiomata, nail clubbing, abdominal mass on examination pallor of upper extremity, pallor of lower extremity increased range of joint motion purpura, petechiae | null | null |
Male | 40 | c1275126 | TNF receptor associated periodic syndrome (TRAPS) | TNFRSF1A gene mutation, serum creatinine level (result: elevated), proteinuria (intensity: moderate to severe), amyloid protein deposition, splenomegaly, mesenteric lymphadenopathy, weight loss (more than 10% of body weight within six months: no), pericarditis, epididymitis, abdominal pain (time since onset: more than one year), fever (time since onset: more than one year high grade: yes), diarrhea (time since onset: more than one year), swelling, knee (time since onset: more than one year laterality: unilateral), hip pain (time since onset: more than one year laterality: unilateral), conjunctivitis (time since onset: more than one year), periorbital swelling (time since onset: more than one year), fatigue, CRP, elevated, erythrocyte sedimentation rate (result: elevated), leukocytosis, hypoalbuminemia, erythema of the skin, localized (time since onset: more than one year), hyperhidrosis, generalized (night sweats: yes time since onset: one month to one year) | antinuclear antibody level, elevated, antimitochondrial antibody, cytoplasmic antineutrophil cytoplasmic antibodies present anti-smooth-muscle antibodies, anti-Saccharomyces cerevisiae antibodies, gliadin antibodies | null | null |
Female | 36 | c0031069, c0004943 | Familial Mediterranean Fever (FMF), Behcet's disease | fever (time since onset: more than one year high grade: no) malaise, reduced exercise tolerance (time since onset: more than one year) AV block second degree, lower back pain (Intensity: severe time since onset: more than one year) double vision (time since onset: more than one year), arthritis, shoulder (time since onset: more than one year), myalgia (time since onset: more than one year), proteinuria (intensity: trace to mild), headache (time since onset: one month to one year), perioral paresthesia (time since onset: one month to one year), sensory deficit, face (distribution: unilateral time since onset: one month to one year) finger pain (laterality: unilateral time since onset: one month to one year), CRP, elevated, leukocytosis, erythrocyte sedimentation rate (result: elevated), procalcitonin level, elevated, alpha 2 globulin level (result: elevated), temporary loss of consciousness, aphthous ulcerations of the oral cavity (time since onset: more than one year) mesangial cell proliferation, microhematuria, inflammatory back pain, MEFV gene mutation, aphthous ulcerations of the genital area | eosinophilia in blood, antinuclear antibody level, elevated, cytoplasmic antineutrophil cytoplasmic antibodies present perinuclear anti-neutrophil cytoplasmic antibodies present anticardiolipin antibodies, elevated, anti-dsDNA antibodies, thyroid peroxidase antibodies, thyrotropin receptor antibodies, thyroglobulin antibodies | null | null |
Male | 37 | c1275126, c2316212 | TNF receptor associated periodic syndrome (TRAPS), Cryopyrin-associated periodic syndrome (CAPS) | fever (high grade: yes time since onset: more than one year) urticaria (time since onset: more than one year), arthritis, knee (time since onset: more than one year) sensorineural hearing deficit (laterality: bilateral), panic attacks, supraventricular arrhythmias in ECG, CRP, elevated, arthritis (time since onset: more than one year) TNFRSF1A gene mutation, NLRP3 gene mutation | null | null | null |
Female | 15 | c0035615 | Takayasu's arteritis | lower back pain (time since onset: one month to one year Intensity: severe) sinusitis, CRP, elevated, papule on the scalp, papule on the upper extremity, papule on the lower extremity, reduced exercise tolerance (time since onset: one month to one year) dyspnea, osteomyelitis, antinuclear antibody level, elevated, erythrocyte sedimentation rate (result: elevated), IgG level (result: elevated), anemia, gamma gt level, elevated, serum creatinine level (result: elevated), fever (time since onset: one month to one year high grade: no), dry skin on other location, abdominal pain (position: epigastric eating: no effect), flank pain (side: bilateral), vomiting (time since onset: one week to one month), loss of appetite, high blood pressure, facial pallor, serum CA-125 level, elevated, blood urea nitrogen level (result: elevated), convulsion, fecal calprotectin, elevated, stenosis of the renal artery, stenosis of the mesenteric artery | tachypnea, anti-dsDNA antibodies, anti-Sm antibodies, anti-U1-RNP antibodies, anti-La (SS-B)-autoantibodies anti-SSA autoantibodies, anti-Scl-70, anti-Jo 1 antibodies, platelet count, aspartate transaminase level, elevated alanine transaminase level, elevated lactate dehydrogenase level, elevated alkaline phosphatase level, proteinuria, pitted nails, oil drop nail, endocarditis, swelling, joint, abdominal tenderness, hepatomegaly, splenomegaly, abdominal distension, abdominal mass on examination leukocyte level, cervical lymphadenopathy glomerulonephritis, gliadin antibodies | null | null |
Female | 59 | c0036202 | Sarcoidosis | pulmonary nodules, epistaxis (time since onset: more than one year), hyperhidrosis, generalized (time since onset: one month to one year) proteinase 3 antibody titer, elevated, fatigue (time since onset: more than one year), hemoptysis (time since onset: one month to one year), reduced exercise tolerance (time since onset: one month to one year) dyspnea (severity: on exertion time since onset: one month to one year) pulmonary radiopacity, adrenal mass seen on imaging, nasal discharge (appearance: crusty), urinary tract infection, thyroid stimulating hormone level (result: reduced), knee pain, elbow pain, cervical lymphadenopathy, sore throat, gingivitis, facial swelling, peripheral edema (pitting), submandibular lymphadenopathy, skin abscess, facial nerve palsy, lagophthalmos, microcytic anemia, hyperkalemia, eosinophils in bronchoalveolar lavage, Melkersson-Rosenthal syndrome | cough, CRP, elevated, glomerulonephritis, glomerular filtration rate, reduced arthralgia, procalcitonin level, elevated proteinuria, fever, dysuria | null | null |
Female | 25 | c0031069 | Familial Mediterranean Fever (FMF) | chest pain (position: bilateral sharp: yes time since onset: one month to one year) pleuritis, pleural effusion, fever (time since onset: one month to one year), splenomegaly, CRP, elevated, d-dimer level in blood, elevated, loss of appetite (time since onset: one month to one year) malaise (time since onset: one month to one year), sinus tachycardia, microcytic anemia, hypothyroidism, lactate dehydrogenase level, elevated, lymphopenia, sodium level (result: reduced), calcium level (result: reduced), cervical inflammation, dyspnea, chills, MEFV gene mutation | serum creatinine level, antinuclear antibody level, elevated antineutrophil cytoplasmic antibodies present HLA-B27 positive, anticardiolipin antibodies, elevated, anti-beta 2 glycoprotein antibodies, elevated anti-SSA autoantibodies, anti-La (SS-B)-autoantibodies, anti-Sm antibodies, right ventricular pressure, elevated, right ventricular enlargement, anti-dsDNA antibodies, pleural empyema | null | null |
Male | 55 | c0036421 | Systemic sclerosis (renal crisis) | fatigue, reduced exercise tolerance (time since onset: one month to one year), malaise (time since onset: one month to one year), tricolor pattern of discoloration of the fingers and toes (time since onset: one month to one year) weight loss, arthralgia (time since onset: one month to one year), serum creatinine level (result: elevated), anti-Scl-70, restless legs | null | null | null |
Female | 44 | c2609059 | Antisynthetase Syndrome | swelling, MCP joints (time since onset: one month to one year), swelling of the fingers (time since onset: one month to one year), myalgia (time since onset: one month to one year), lower extremity pain (time since onset: one month to one year), tricolor pattern of discoloration of the fingers and toes (time since onset: one month to one year) erythema of the forearm, CRP, elevated, erythrocyte sedimentation rate (result: elevated) leukocytosis, anemia, neutrophilia, lymphopenia, creatine kinase level, elevated, cardiac CK-MB level, elevated hypoalbuminemia, alpha 2 globulin level (result: elevated) antinuclear antibody level, elevated antimitochondrial antibody, myositis, myopathic pattern on EMG, anti-alpha-fodrin antibodies, cough, fever, pruritus, weight loss, morning stiffness, swelling, knee, swelling, ankle joint, reduced exercise tolerance, cardiac troponin T level, elevated, tachycardia on ECG, anti-PL 7 antibodies | anti-dsDNA antibodies anti-Jo 1 antibodies | null | null |
Male | 46 | c0085278 | Antiphospholipid Syndrome (APS) | anterior ischemic optic neuropathy, reduced visual acuity (time since onset: one week to one month) leukocytosis in CSF, gamma gt level, elevated, LDL level (result: elevated), alanine transaminase level, elevated, brain white matter lesion, cholesterol level (result: elevated), feeling of heavy legs, neck pain, lupus anticoagulant antibodies, elevated | cardiomegaly, pericardial effusion, heart valve defect, aneurysm of the intracranial arteries | null | null |
Female | 28 | c0036202 | Sarcoidosis | microhematuria, proteinuria (intensity: trace to mild), parotid gland enlargement, fever (high grade: no), erythrocyte sedimentation rate (result: elevated) CRP, elevated, transaminase levels, elevated, dry mouth, reduced exercise tolerance, loss of appetite, hyperhidrosis, generalized (night sweats: yes) erythema, axillary lymphadenopathy, cervical lymphadenopathy, weight loss, impaired vision, back pain, eye pain (intensity: severe laterality: unilateral) anterior uveitis, hyposalivation, thinning of the glomerular basement membrane | arthralgia, morning stiffness, inflammatory back pain, aphthous ulcerations of the oral cavity, tricolor pattern of discoloration of the fingers and toes venous thrombosis, proof of miscarriage, dry eye, hepatomegaly, anti-SSA autoantibodies, anti-La (SS-B)-autoantibodies, mumps virus, confirmed human immunodeficiency virus infection Epstein-Barr virus, splenomegaly, ACE level, hilar lymphadenopathy, pulmonary nodules, Interleukin 2 receptor, elevated, granuloma | null | null |
Female | 58 | c3203653 | IgG4-related disease | high blood pressure (time since onset: one month to one year) cholesterol level (result: elevated), triglyceride level (result: elevated), double vision (time since onset: one month to one year) oculomotor nerve palsy (time since onset: one month to one year) sinusitis, exophthalmos (laterality: unilateral time since onset: one month to one year) swelling of the eyelid (time since onset: one month to one year), glomerular filtration rate, reduced, orbital mass, hepatic mass seen on imaging, left ventricular hypertrophy, mitral valve regurgitation on imaging, aortic valve regurgitation on imaging, tricuspid valve regurgitation on imaging, predominance of IgG4 positive plasma cells in histopathology | CRP, elevated, orbital fracture, vitamin D level, decreased, thyroid peroxidase antibodies, thyrotropin receptor antibodies, thyroglobulin antibodies, ACTH level, antineutrophil cytoplasmic antibodies present, anti-GBM antibodies present, IgG4 level, thrombosis, venous sinus, free T4, thyroid stimulating hormone level, elevated rheumatoid factor, cardiac ejection fraction, positive interferon gamma release assay for tuberculosis | Hx: eye trauma | smoker |
Female | 62 | c0020630 | Hypophosphatasia | lipoprotein a level, elevated, cholesterol level (result: elevated), antinuclear antibody level, elevated, myalgia (time since onset: more than one year), upper back pain (time since onset: more than one year) wedging of vertebral body, osteoporosis, alkaline phosphatase level (result: reduced), lower back pain (time since onset: more than one year) scoliosis, rib fracture, knee pain, ankle pain, muscle cramps in the lower extremity | creatine kinase level, elevated erythrocyte sedimentation rate, CRP, elevated, elevated rheumatoid factor, anti-cyclic citrullinated protein antibodies anti-dsDNA antibodies, complement C3 level, complement C4 level, proteinase 3 antibody titer, elevated myeloperoxidase antibodies present anti-Scl-70 | Hx: spinal trauma | null |
Female | 44 | c2316212 | Cryopyrin-associated periodic syndrome (CAPS) | fever (time since onset: one month to one year high grade: yes), chills (time since onset: one month to one year), hyperhidrosis, generalized (night sweats: yes time since onset: one month to one year) reduced exercise tolerance (time since onset: one month to one year), arthralgia (time since onset: one month to one year), knee pain (time since onset: one month to one year), erythrocyte sedimentation rate (result: reduced), anemia, thrombocytosis, leukocytosis, CRP, elevated, calcium level (result: elevated), alpha 2 globulin level (result: elevated), gamma gt level, elevated, alkaline phosphatase level (result: elevated), alanine transaminase level, elevated, hepatomegaly, paraaortic lymphadenopathy, myalgia (time since onset: one month to one year), sore throat, gallstone, enlarged thyroid gland, serum free light chain level, elevated, cervical lymphadenopathy, bowel wall thickening, arthritis, NLRP3 gene mutation | malignant cells in bone marrow lymphoblastic hyperplasia myeloid hyperplasia, ACE level, immune deposits, anti-dsDNA antibodies, liver abscess, increased hepatic echogenicity, hilar lymphadenopathy, pulmonary nodules, pulmonary infiltrates, pleural effusion, antinuclear antibody level, elevated, ferritin level, antistreptolysin O antibody titer, elevated, swelling, joint, tricolor pattern of discoloration of the fingers and toes dry mouth, dry eye, uveitis, stenosis of the carotid artery, stenosis of the subclavian artery, MEFV gene mutation, TNFRSF1A gene mutation | null | null |
Male | 28 | c0018099 | Gout arthritis | lower back pain (time since onset: one month to one year), PIP joint pain (finger) (laterality: unilateral time since onset: one month to one year) weight loss, sacroiliitis, swelling, elbow, urate crystals in synovial fluid, arthritis, MTP I joint, creatine kinase level, elevated, alkaline phosphatase level (result: elevated), lactate dehydrogenase level, elevated, mean corpuscular volume (result: reduced), parathyroid hormone level (result: elevated), CRP, elevated, iron level (result: reduced), ferritin level (result: reduced), triglyceride level (result: elevated), anemia, renal insufficiency | dyspnea, chest pain, fever, hyperuricemia, elevated rheumatoid factor, anti-cyclic citrullinated protein antibodies antinuclear antibody level, elevated antineutrophil cytoplasmic antibodies present serum complement level, anti-Sm antibodies anti-U1-RNP antibodies anti-SSA autoantibodies anti-La (SS-B)-autoantibodies anti-Scl-70, anti-Jo 1 antibodies abdominal tenderness | null | null |
Female | 44 | c2316212 | Cryopyrin-associated periodic syndrome (CAPS) | CRP, elevated, elbow pain (time since onset: more than one year laterality: unilateral) vertigo (time since onset: more than one year), wrist pain (time since onset: more than one year), hip pain (time since onset: more than one year laterality: unilateral), foot pain (laterality: bilateral time since onset: more than one year), knee pain (time since onset: more than one year), hearing deficit (laterality: unilateral time since onset: more than one year) free T3 (result: elevated), IgM level (result: reduced), complement C4 level (result: elevated), calcium level (result: elevated), fever (time since onset: more than one year high grade: no), tachycardia on ECG, potassium level (result: elevated), splenomegaly, complement C3 level (result: elevated), NLRP3 gene mutation | erythrocyte sedimentation rate myalgia, antinuclear antibody level, elevated serum complement level, anti-Sm antibodies, anti-U1-RNP antibodies, anti-SSA autoantibodies, anti-La (SS-B)-autoantibodies pathologically increased cryoglobulin level anti-Scl-70, anti-Jo 1 antibodies, thyroid stimulating hormone level, parathyroid hormone level, IgG level, IgA level, elevated rheumatoid factor, anti-cyclic citrullinated protein antibodies antineutrophil cytoplasmic antibodies present anticardiolipin antibodies, elevated, cardiac ejection fraction, heart valve defect, anti-dsDNA antibodies, glomerular filtration rate, reduced, creatine kinase level, elevated, serum amyloid A, elevated, IgG4 level, facial pain, facial swelling, chest pain, alkaline phosphatase level | null | null |
Male | 39 | c0004943 | Behcet's disease | dysuria (time since onset: more than one year), abdominal pain (position: epigastric time since onset: one month to one year) back pain (time since onset: one month to one year), brain white matter lesion, pain of the oral cavity (time since onset: one month to one year), impaired vision (time since onset: one month to one year), muscle fasciculation (time since onset: one month to one year), cerebrospinal fluid protein level (result: elevated), creatine kinase level, elevated, lactate dehydrogenase level, elevated, spinal stenosis seen on imaging, arthritis, uveitis, fatigue, aphthous ulcerations of the oral cavity, balanitis, swelling, ankle joint (laterality: unilateral), gamma gt level, elevated, alanine transaminase level, elevated, high blood pressure, hematuria, epistaxis (time since onset: one month to one year), foot dorsiflexor paresis, myalgia (time since onset: one month to one year), tenderness, MTP joints (laterality: unilateral) | urethritis, testicular enlargement, scrotal mass, Treponema pallidum antigen Lymphadenopathy on palpation, antinuclear antibody level, elevated antimitochondrial antibody, antineutrophil cytoplasmic antibodies present proteinase 3 antibody titer, elevated myeloperoxidase antibodies present meningism, cranial nerve disorder, lower extremity paresis, upper extremity paresis, muscle atrophy, muscular hypertonicity, hyperreflexic deep tendon reflexes, serum creatinine level, CRP, elevated, HLA-B27 positive, HLA-B51 positive, anti-dsDNA antibodies, leukocyte level, erythema, Enterocolitis, sensory deficit, painful dysesthesia, elevated skin temperature of the ankle, skin rash, hepatomegaly, splenomegaly, borrelia burgdorferi antibodies in CSF | null | elevated BMI |
Female | 30 | c0006272 | Panarteritis nodosa | erosion and ulceration of the lower extremity (pain: yes crusted surface: yes time since onset: more than one year) paresthesia of the lower extremity, macule on the lower extremity (purple: yes uneven borders: yes pain: yes time since onset: more than one year) livedo (time since onset: more than one year), CRP, elevated, erythrocyte sedimentation rate (result: elevated) creatine kinase level, elevated, INR level (result: elevated), microhematuria, complement C4 level (result: reduced) | antinuclear antibody level, elevated anti-SSA autoantibodies, anti-La (SS-B)-autoantibodies complement C3 level, pathologically increased cryoglobulin level anti-dsDNA antibodies, antineutrophil cytoplasmic antibodies present | null | null |
Female | 53 | c0012940 | Spondyloarthritis | swelling, wrist (time since onset: more than one year), wrist pain (time since onset: more than one year), shoulder pain (time since onset: more than one year), gluteal pain (time since onset: more than one year laterality: unilateral) nightly awakening (adults), lower back pain (nocturnal or early morning: exacerbates time since onset: more than one year) urinary tract infection, sacroiliitis, HLA-B27 positive, microcytic anemia arthritis, wrist enthesitis leukopenia, knee pain (time since onset: more than one year), morning stiffness (time since onset: one month to one year) hand pain, paresthesia of the hand, headache (time since onset: more than one year), dizziness, sensory deficit, lower extremity, spinal stenosis seen on imaging, tendinitis, serum glucose level (result: reduced), BNP in serum, elevated, complement C3 level (result: reduced) | diarrhea, uveitis, erythrocyte sedimentation rate, CRP, elevated, serum complement level, elevated rheumatoid factor antinuclear antibody level, elevated anticardiolipin antibodies, elevated plaque of the skin, erythema, glomerular filtration rate, reduced anti-dsDNA antibodies, anti-GBM antibodies present, anti-Ku antibodies, anti-PL 7 antibodies, anti-PL 12 antibodies, anti-SRP antibodies, anti-Jo 1 antibodies, anti-PmScl antibody titer, anti-OJ antibodies, anti-EJ antibodies, anti-alpha-fodrin antibodies, serum amyloid A, elevated, aphthous ulcerations of the oral cavity venous thrombosis, chest pain, peripheral edema (pitting) | null | null |
Male | 21 | c0002986 | Fabry disease | palpitation (time since onset: one month to one year), rapid pulse (time since onset: one month to one year), tachycardia on ECG, swelling of the hand (time since onset: one month to one year laterality: bilateral) acne, ankle pain (time since onset: more than one year alcohol: exacerbates), knee pain (laterality: bilateral alcohol: exacerbates time since onset: one month to one year) hand pain (time since onset: one month to one year laterality: bilateral), tenderness, finger joint (time since onset: one month to one year laterality: bilateral), left ventricular hypertrophy, alpha-galactosidase A enzyme activity, decreased, papule in the periumbilical region, GLA gene mutation | heart failure, syncope, heart valve defect, elevated rheumatoid factor, anti-cyclic citrullinated protein antibodies antinuclear antibody level, elevated erythrocyte sedimentation rate anti-dsDNA antibodies, anti-SSA autoantibodies, anti-La (SS-B)-autoantibodies anti-Scl-70, skin rash, erythema, plaque of the skin, bone erosion of the finger joint, anemia, leukocyte level, platelet count | null | null |
Male | 21 | c0002986 | Fabry disease | diarrhea, hypothyroidism, proteinuria (intensity: trace to mild), serum creatinine level (result: elevated) glomerular filtration rate, reduced, small kidneys (laterality: bilateral) hyperkalemia, blood urea nitrogen level (result: elevated) serum albumin level (result: reduced) serum protein level (result: reduced), focal segmental glomerulosclerosis, renal insufficiency, anemia, parathyroid hormone level (result: elevated) papule on the trunk, GLA gene mutation | fever, vomiting, hematochezia, antinuclear antibody level, elevated, anti-dsDNA antibodies, serum complement level, antineutrophil cytoplasmic antibodies present schistocytes, amyloid protein deposition, immune deposits, vitamin D level, decreased, leukocyte level, platelet count, hepatitis C virus, confirmed human immunodeficiency virus infection | diabetes mellitus Hx: hypertension | Hx: recent infection smoker |
Female | 53 | c2609059 | Antisynthetase Syndrome | vomiting (time since onset: more than one year), cholesterol level (result: elevated), steatosis hepatis, lower back pain (time since onset: more than one year), finger joint pain (time since onset: more than one year), tricolor pattern of discoloration of the fingers and toes (time since onset: more than one year) diarrhea (time since onset: more than one year), groin pain (time since onset: more than one year), swelling, finger joints (time since onset: more than one year), morning stiffness (time since onset: more than one year), shoulder pain (time since onset: more than one year), neck pain (time since onset: more than one year), insomnia, rapid pulse (time since onset: more than one year), hyperhidrosis, generalized, Hepatitis A virus, ferritin level (result: elevated), iron level (result: reduced), triglyceride level (result: elevated), cerebral atrophy, lipase level, elevated, perirenal fluid collections, bilirubin level, elevated, CRP, elevated, pleural effusion, pleuritis, ascites, renal cysts, nausea, proof of acute pancreatitis, ovarian cyst seen on imaging, IgM level (result: elevated), gamma gt level, elevated, reduced exercise tolerance (time since onset: one month to one year) elevated rheumatoid factor, anti-Jo 1 antibodies, complement C3 level (result: elevated), uric acid level (result: elevated), nocturia, erythema of the cheeks, tenderness, finger joint, swelling, MCP joints, elevated skin temperature of the MTP joint, myalgia (time since onset: one month to one year), dyspnea (time since onset: one month to one year), IgG4 level (result: elevated), anticardiolipin antibodies, elevated, beta 2 microglobulin level, elevated, vitamin D level, decreased, peripheral polyneuropathy, hepatic mass seen on imaging, renal mass seen on imaging | antinuclear antibody level, elevated antimitochondrial antibody ceruloplasmin level, Hepatitis B virus, hepatitis C virus, Lyme-specific IgM level, elevated, Lyme-specific IgG level, elevated, vitamin B12 level, leukocytosis, IgG level, anti-smooth-muscle antibodies, antineutrophil cytoplasmic antibodies present anti-dsDNA antibodies, anti-cyclic citrullinated protein antibodies thrombocytopenia, heart valve defect, anti-SSA autoantibodies, anti-La (SS-B)-autoantibodies, anti-U1-RNP antibodies, anti-Sm antibodies, anti-Scl-70, alpha-1 antitrypsin level, decreased, positive interferon gamma release assay for tuberculosis lupus erythematosus | alcohol abuse | null |
Male | 50 | c0206138 | CREST syndrome | focal segmental glomerulosclerosis, sutraictuascid level (result: elevated), carpal tunnel syndrome, pain in the upper arm (laterality: bilateral time since onset: one month to one year) thigh pain (laterality: bilateral time since onset: one month to one year), neck pain (time since onset: one month to one year) diarrhea, shoulder pain (time since onset: one month to one year) swelling, shoulder (time since onset: one month to one year) antinuclear antibody level, elevated, anti-centromere antibodies, erythrocyte sedimentation rate (result: elevated) hemoglobin level (result: reduced) thrombocytopenia, potassium level (result: elevated), phosphate level (result: elevated), serum creatinine level (result: elevated), blood urea nitrogen level (result: elevated) glomerular filtration rate, reduced, PSA level, elevated, ferritin level (result: elevated), serum complement level (result: elevated) parathyroid hormone level (result: elevated) steatosis hepatis, liver cyst, small kidneys, splenomegaly, nephrocalcinosis, Interleukin 2 receptor, elevated | anti-dsDNA antibodies anti-Sm antibodies, anti-SSA autoantibodies anti-La (SS-B)-autoantibodies anti-U1-RNP antibodies anti-Scl-70, anti-Jo 1 antibodies | null | Hx: hypertension immunocompromised |
Female | 45 | c0018099 | Gout arthritis | swtraitsutspain (time since onset: more than one year laterality: unilateral), swelling, wrist (time since onset: more than one year), ankle pain (time since onset: more than one year laterality: unilateral) swelling, ankle joint (time since onset: more than one year laterality: unilateral) uric acid level (result: elevated), headache (time since onset: one month to one year), joint space narrowing of the fingers, lower back pain (time since onset: one month to one year) MCP joint pain (time since onset: one month to one year) swelling, MCP joints (time since onset: one month to one year) | sensory deficit, hand, antinuclear antibody level, elevated elevated rheumatoid factor | diabetes mellitus | immunocompromised Hx: hypertension |
Male | 58 | c0012940 | Spondyloarthritis | nausea (time since onset: more than one year), rapid pulse (time since onset: more than one year), chest pain (position: unilateral time since onset: more than one year sharp: yes), aural fullness (time since onset: more than one year), hyperhidrosis, generalized (cold perspiration: yes time since onset: more than one year), headache (time since onset: more than one year), vertigo (time since onset: more than one year), upper extremity pain (laterality: unilateral time since onset: more than one year), neck pain (time since onset: more than one year), high blood pressure (time since onset: more than one year), lower back pain (time since onset: more than one year activity: exacerbates nocturnal or early morning: exacerbates), sensory deficit, hand (distribution: bilateral, symmetrical time since onset: more than one year), painful dysesthesia of the upper extremity (distribution: symmetrical time since onset: more than one year), painful dysesthesia of the lower extremity (distribution: symmetrical time since onset: more than one year), paresthesia of the hand (distribution: symmetrical time since onset: more than one year), paresthesia of the lower extremity (distribution: symmetrical time since onset: more than one year), sensory deficit, foot (distribution: bilateral, symmetrical reduced vibration sense: yes impaired proprioception: yes time since onset: more t Premature ventricular contraction, ventricular tachycardia, aortic valve regurgitation on imaging, dyspnea (severity: on exertion time since onset: more than one year), LDL level (result: elevated), left axis deviation, right bundle branch block, gait impairment (time since onset: more than one year), spinal tenderness, positive straight leg raise, CRP, elevated, lower extremity pain (time since onset: more than one year), insomnia (time since onset: more than one year), reduced exercise tolerance (time since onset: more than one year), peripheral polyneuropathy, carpal tunnel syndrome, panic attacks (time since onset: more than one year), depressed mood (time since onset: one month to one year), impaired vision (time since onset: one month to one year), heat intolerance (time since onset: one month to one year), tenderness, MTP joints (laterality: bilateral time since onset: one month to one year), limited range of motion of the spine (time since onset: one month to one year), ferritin level (result: elevated), vitamin D level, decreased, groin pain (time since onset: one month to one year), hip pain (time since onset: one month to one year), diarrhea (time since onset: one month to one year), constipation (time since onset: one month to one year), intestinal meteorism, reduced nerve fiber density, transaminase levels, elevated, creatine kinase level, elevated, splenomegaly, steatosis hepatis, intestinal inflammation, gastric mucosal inflammation, sacroiliitis, inflammatory back pain | upper extremity paresis, lower extremity paresis, facial nerve palsy, impaired fine motor skills hyperreflexia, upper limb hyperreflexia, lower limb diminished reflexes, upper limb diminished reflexes, lower limb spinal stenosis seen on imaging disc herniation, urinary incontinence, fecal incontinence, cardiac ejection fraction, serum cardiac troponin level, elevated shortened PR interval on ECG prolonged PR interval on ECG shortened QT interval on ECG prolonged QT interval on ECG, heart wall motion abnormality, ST segment changes on ECG, thyroid stimulating hormone level calcium level, phosphate level, normetanephrine level in urine, elevated swelling, joint, transferrin level, hepatitis C virus, Hepatitis B virus, Hepatitis A virus, monoclonal gammopathy, amyloid protein deposition, serum amyloid A, elevated, HLA-B27 positive, GLA gene mutation, Tropheryma whipplei | alcohol abuse, an one year) | elevated BMI |
Female | 50 | c0032453 | Relapsing Polychondritis | renal insufficiency, osteopenia, microcytic anemia, swelling of the nose (time since onset: more than one year) erythema of the nose (time since onset: more than one year) erythema of the ear (time since onset: more than one year) ear swelling, episcleritis, necrosis of the fingers (time since onset: more than one year), necrosis of the toes (time since onset: more than one year), impaired vision (time since onset: one month to one year laterality: unilateral) shoulder pain (time since onset: one month to one year laterality: bilateral) foot pain (time since onset: more than one year laterality: bilateral), swelling, wrist, swelling of the foot (laterality: unilateral), swelling, MCP I joint, muscular atrophy of the upper limb, reduced exercise tolerance, eosinophilia in blood, leukocytosis | null | null | null |
Female | 49 | c0032453 | Relapsing Polychondritis | renal insufficiency, heart failure, Lymphadenopathy on examination, elbow pain, sternal tenderness, heel pain, arthritis, MCP joints (time since onset: more than one year), left bundle branch block, aortic valve regurgitation on imaging, sacroiliitis, microhematuria, CRP, elevated, HLA-B27 positive, reduced exercise tolerance, rapid pulse, palpitation (time since onset: one month to one year), pleural effusion, lower back pain (time since onset: more than one year), foot pain (time since onset: more than one year), ankle pain (time since onset: more than one year), myalgia, erythema of the ear (time since onset: one month to one year pain: yes bilateral distribution: no) nasal pain (time since onset: one month to one year), erythema of the nose, aphthous ulcerations of the oral cavity, fatigue, ear swelling (bilateral distribution: no), uric acid level (result: elevated), erythrocyte sedimentation rate (result: elevated), enthesitis, malaise | syncope chest pain | null | Hx: hypertension |
Female | 57 | c0263859 | SAPHO Syndrome | palmoplantar pustulosis (time since onset: more than one year) jaw swelling (time since onset: one month to one year), pain in lower jaw (time since onset: one month to one year) erythrocyte sedimentation rate (result: elevated), bone lesion osteomyelitis CRP, elevated leukocytosis Hyperostosis | antinuclear antibody level, elevated anti-dsDNA antibodies, antineutrophil cytoplasmic antibodies present anti-U1-RNP antibodies, anti-SSA autoantibodies anti-La (SS-B)-autoantibodies anti-Sm antibodies, anti-Jo 1 antibodies anti-Scl-70 | null | null |
Male | 35 | c0004943 | Behcet's disease | lower back pain (time since onset: more than one year radiating down the leg: yes), neck pain (time since onset: more than one year), extremity pain (at motion: exacerbates time since onset: more than one year laterality: bilateral) leukocyte level (result: elevated), lymphocytosis, creatine kinase level, elevated, nasal septum deviation, sinusitis, eosinophilia in blood, chest pain (respiration: exacerbates position: unilateral time since onset: more than one year) headache (laterality: bilateral time since onset: more than one year), bone pain (time since onset: more than one year), fatigue (time since onset: more than one year), kidney stone, myalgia (time since onset: more than one year), nausea (time since onset: one month to one year), vertigo (time since onset: more than one year), double vision (time since onset: more than one year), sensory deficit, face (distribution: unilateral time since onset: more than one year), Sensory deficit of the trunk (distribution: unilateral time since onset: more than one year) impaired vision (laterality: unilateral time since onset: more than one year), dry eye (time since onset: more than one year), ear noise (time since onset: more than one year), renal tubular acidosis type 1, paresthesia of the foot (time since onset: more than one year), paresthesia of the hand (time since onset: more than one year), sensory deficit, arm (distribution: unilateral time since onset: more than one year), sensory deficit, lower extremity (distribution: unilateral time since onset: more than one year) hypercalciuria, hematuria, morning stiffness (time since onset: more than one year), wrist pain (time since onset: more than one year), ankle pain (time since onset: more than one year), abdominal pain (position: epigastric time since onset: more than one year), proteinuria (intensity: trace to mild), uric acid level (result: reduced), dyspnea (severity: on exertion time since onset: one month to one year), syncope, hearing deficit (laterality: unilateral), papule on the trunk, pustule on the trunk, oral mucosal bleeding, inflammatory back pain, dermatitis, aphthous ulcerations of the oral cavity (time since onset: one month to one year), arthritis (time since onset: more than one year), Interleukin 2 receptor, elevated | CRP, elevated, lactate dehydrogenase level, elevated, serum creatinine level, spinal stenosis seen on imaging, cervical spine degeneration, disc herniation, pulmonary infiltrates, vomiting, complete loss of consciousness, antinuclear antibody level, elevated anti-dsDNA antibodies, antineutrophil cytoplasmic antibodies present antiphospholipid antibodies, elevated, ACE level, thyroid stimulating hormone level, intracranial hemorrhage, increased intracranial pressure, cerebral ischemia, peripheral edema (pitting), foamy urine, GLA gene mutation, protein S level, protein C level, lupus anticoagulant antibodies, elevated heart valve defect, myopathy, cerebrospinal fluid protein level, CSF lymphocytosis, leukocytosis in CSF, RBC count in CSF, elevated, bacteria in CSF, arrhythmias on ECG, AV block, elevated rheumatoid factor, anti-U1-RNP antibodies, anti-Sm antibodies, anti-SSA autoantibodies, anti-La (SS-B)-autoantibodies, anti-Jo 1 antibodies, anti-Scl-70, anti-PL 7 antibodies, anti-PL 12 antibodies, anti-alpha-fodrin antibodies, serum amyloid A, elevated, MEFV gene mutation, NLRP3 gene mutation, TNFRSF1A gene mutation | null | smoker |
Female | 43 | c0263859 | SAPHO Syndrome | sternal tenderness (time since onset: more than one year), dyspnea (time since onset: more than one year), chest pain (respiration: exacerbates time since onset: more than one year) erythrocyte sedimentation rate (result: elevated), CRP, elevated, osteomyelitis, leukocyte level (result: elevated), Hyperostosis | complement C4 level, antinuclear antibody level, elevated anti-dsDNA antibodies, anti-U1-RNP antibodies, anti-SSA autoantibodies, anti-La (SS-B)-autoantibodies, anti-Sm antibodies, anti-Scl-70, anti-Jo 1 antibodies, antineutrophil cytoplasmic antibodies present | null | null |
Female | 48 | c0019196 | Chronic Hepatitis C | peripheral edema (pitting) (time since onset: one month to one year) gingival bleeding (time since onset: one month to one year) tenderness, MCP joints, epistaxis (time since onset: one month to one year), depressed mood, hopelessness, Factor VIII level (result: reduced), von Willebrand factor level, decreased, Hepatitis B virus, hepatitis C virus, sensory deficit, hand (time since onset: one month to one year distribution: bilateral, symmetrical) erythema of the finger joint (time since onset: one day to one week), swelling, finger joints (time since onset: one day to one week), erythema of the hand, swelling of the hand (laterality: bilateral), MCP joint pain (laterality: bilateral), ankle pain (laterality: bilateral), knee pain (laterality: bilateral), headache, nausea, constipation, limited range of motion of the ankle joint, crepitus in knee, tenderness, wrist, paresthesia of the first three fingers (distribution: symmetrical time since onset: one day to one week) transaminase levels, elevated, complement C4 level (result: reduced), anti-smooth-muscle antibodies, transferrin saturation (result: reduced), iron level (result: reduced), osteoarthritis of the spine, carpal tunnel syndrome | distended jugular veins collateral vessels thrombocytopenia vomiting, diarrhea, elevated rheumatoid factor, anti-cyclic citrullinated protein antibodies anti-U1-RNP antibodies, anti-SSA autoantibodies, anti-La (SS-B)-autoantibodies, anti-Sm antibodies, anti-Jo 1 antibodies, anti-Scl-70, anti-dsDNA antibodies, antineutrophil cytoplasmic antibodies present anticardiolipin antibodies, elevated complement C3 level, CRP, elevated, hemoglobin level, leukocyte level, bone erosion of a joint, peripheral polyneuropathy | null | alcohol abuse |
Male | 58 | c0008728 | Eosinophilic Granulomatosis with Polyangiitis (EGPA) | sinusitis, pulmonary nodules, diverticula, dyspnea (severity: daily activities time since onset: more than one year) FEV1, decreased, colitis, CRP, elevated, nasal polyp, eosinophilia in blood, neutrophilia, bronchitis, oropharyngeal candidiasis, Total IgE level, elevated, anti-cyclic citrullinated protein antibodies, mean corpuscular volume (result: reduced), glomerular filtration rate, reduced, creatine kinase level, elevated, alanine transaminase level, elevated, IgG4 level (result: elevated), vitamin D level, decreased, eosinophilic infiltrate | hypoxemia, antinuclear antibody level, elevated, antineutrophil cytoplasmic antibodies present anti-dsDNA antibodies, interleukin 6, elevated, mycobacterium tuberculosis in lower respiratory tract granuloma, elevated rheumatoid factor, anti-U1-RNP antibodies, anti-Sm antibodies, anti-SSA autoantibodies, anti-Jo 1 antibodies, anti-Scl-70, MI-2 antibody titer, anti-EJ antibodies, anti-OJ antibodies, anti-Ku antibodies, anti-PL 7 antibodies, anti-PL 12 antibodies, anticardiolipin antibodies, elevated, anti-GBM antibodies present | null | null |
Female | 51 | c1527336 | Sjogren's syndrome | dry eye (time since onset: more than one year), dry mouth (time since onset: more than one year), weight loss (more than 10% of body weight within six months: yes), hyperhidrosis, generalized (night sweats: yes time since onset: one month to one year), erosions and ulcerations of the oral cavity (time since onset: one month to one year), oral mucosal bleeding (time since onset: one month to one year), abdominal pain (position: lower right quadrant time since onset: one month to one year eating: no effect) diarrhea (time since onset: one month to one year), foul smelling stool, thigh pain (laterality: bilateral time since onset: one month to one year), headache (time since onset: one month to one year), uterine mass seen on imaging, hepatic mass seen on imaging, esophagitis, gastric mucosal inflammation, sensory deficit, upper leg (time since onset: one month to one year), reduced exercise tolerance (time since onset: one month to one year), brain white matter lesion, finger joint pain (time since onset: one month to one year), livedo, cachexia, alkaline phosphatase level (result: reduced), cholesterol level (result: elevated), serum protein level (result: elevated), abdominal tenderness (position: pelvic), anti-alpha-fodrin antibodies, painful dysesthesia of the lower extremity, tricolor pattern of discoloration of the fingers and toes, vaginal wall bleeding, hyposalivation | CRP, elevated, erythrocyte sedimentation rate proteinase 3 antibody titer, elevated myeloperoxidase antibodies present anti-GBM antibodies present, anemia, leukocyte level, platelet count, edema (pitting), serum complement level, elevated rheumatoid factor, anti-cyclic citrullinated protein antibodies anti-dsDNA antibodies, anticardiolipin antibodies, elevated anti-U1-RNP antibodies, anti-SSA autoantibodies, anti-La (SS-B)-autoantibodies, anti-Sm antibodies, anti-Jo 1 antibodies, anti-Scl-70, fever, ferritin level | null | null |
Female | 78 | c1527336 | Sjogren's syndrome | obstructive ventilation pattern pulmonary nodules, bronchitis, oropharyngeal candidiasis sliding hiatal hernia ground-glass opacities bronchiectasis, neutrophilia, erythrocyte sedimentation rate (result: elevated), CRP, elevated, serum creatinine level (result: elevated), back pain, liver cyst, abdominal pain (position: epigastric), nausea, dysphagia, sputum, heartburn, glomerular filtration rate, reduced, parathyroid hormone level (result: elevated), swelling, ankle joint, fatigue, crackles, mycobacterium avium-intracellulare in blood, renal cysts, small kidneys, blood urea nitrogen level (result: elevated) anti-alpha-fodrin antibodies, dizziness, palpitation, thigh pain, FEV1/FVC (result: reduced), Premature ventricular contraction, hyposalivation, dry mouth, creatine kinase level, elevated, tricolor pattern of discoloration of the fingers and toes diffusion capacity (result: reduced) | cough, malignant cells in pulmonary tissue, positive tuberculin skin test, leukocytosis, pulmonary infiltrates, pleural effusion, proteinuria, hematuria, anti-U1-RNP antibodies, anti-La (SS-B)-autoantibodies, antineutrophil cytoplasmic antibodies present, anti-SSA autoantibodies, anemia, weight loss, peripheral edema (pitting), axillary lymphadenopathy, hilar lymphadenopathy, stenosis of the renal artery, renal perfusion, decreased, thrombocytosis, antinuclear antibody level, elevated, complement C3 level, complement C4 level, anti-PL 7 antibodies, AV block, hypolacrimation, anti-Jo 1 antibodies, partial thromboplastin time, anti-PL 12 antibodies, anti-OJ antibodies, anti-EJ antibodies, positive interferon gamma release assay for tuberculosis | null | Hx: hypertension |
Female | 38 | c0265253 | Stickler Syndrome | hip pain (time since onset: more than one year laterality: unilateral activity: exacerbates) groin pain (time since onset: more than one year), osteoarthritis of the knee, meniscal tear, knee pain (laterality: unilateral time since onset: more than one year) gastric mucosal inflammation, ovarian cyst seen on imaging, varicose veins, swelling, knee (time since onset: more than one year) genu valgum, pes cavus, arthritis, knee (time since onset: one month to one year) renal cysts, low blood pressure, arthritis, elbow, glaucoma, swelling of the lower leg dyspnea (severity: on exertion) weight loss, tall stature, myopia microhematuria, disc herniation reduced visual acuity finger joint pain chondrodysplasia | dysuria, flank pain, macrohematuria, foamy urine, renal insufficiency complement C3 level complement C4 level erythrocyte sedimentation rate eosinophilia in blood | null | null |
Female | 23 | c0012940 | Spondyloarthritis | uveitis, hyperopia, inflammatory back pain, lower back pain (nocturnal or early morning: exacerbates activity: relieves time since onset: one month to one year) gluteal pain (time since onset: one month to one year), dry eye, limited range of motion of the spine, microhematuria, vitamin D level, decreased, kyphosis | morning stiffness, plaque of the skin, scaling of the skin, localized, urethritis, tricolor pattern of discoloration of the fingers and toes aphthous ulcerations of the oral cavity Lymphadenopathy on examination, photosensitivity of the skin, recurrent blood clots, swelling, joint, HLA-B27 positive, sacroiliitis, erosions and ulcerations of the large intestine, lactose intolerance, spinal deformity, spinal tenderness, antinuclear antibody level, elevated, elevated rheumatoid factor, anti-cyclic citrullinated protein antibodies, serum complement level, antineutrophil cytoplasmic antibodies present, thyroid stimulating hormone level, parathyroid hormone level | null | null |
Female | 21 | c0017668 | Focal segmental glomerulosclerosis (FSGS) | proteinuria (intensity: trace to mild), striae, erythrocyte sedimentation rate (result: elevated) glomerular filtration rate, reduced, alpha 2 globulin level (result: elevated), triglyceride level (result: elevated), serum protein level (result: reduced), increased urinary frequency, erythema of the skin, localized (scaly surface: yes) serum albumin level (result: reduced), sodium level (result: reduced), blood urea nitrogen level (result: elevated) transaminase levels, elevated, focal segmental glomerulosclerosis nephrosclerosis, uric acid level (result: elevated) | peripheral edema (pitting) diarrhea, CRP, elevated, loss of appetite, serum glucose level microhematuria malaise, cholesterol level potassium level cough, dysuria, fever, reduced exercise tolerance | Hx: hypertension diabetes mellitus | smoker elevated BMI |
Female | 16 | c1843273 | Tubulointerstitial nephritis and uveitis syndrome (TINU) | ventricular septal defect, dyspnea, splenomegaly, systolic heart murmur, aortic valve regurgitation on imaging right bundle branch block, reduced exercise tolerance, fever (high grade: yes time since onset: one day to one week) increased urinary frequency, hand pain (laterality: unilateral), posterior neck pain, underweight, cough (clear or yellow phlegm: no), erythrocyte sedimentation rate (result: elevated), generalized arthralgia, platelet count (result: elevated), glomerular filtration rate, reduced, microcytic anemia, weight loss (more than 10% of body weight within six months: no) secondary amenorrhea, shoulder asymmetry, flank pain (side: right time since onset: one month to one year) interstitial nephritis, blood urea nitrogen level (result: elevated), endocarditis, anterior uveitis | cyanosis, edema (pitting), hepatomegaly, arrhythmic pulse on palpation, heart valve defect, hypoxemia, arrhythmias on ECG, supraventricular premature beats, Premature ventricular contraction cardiomegaly, chest pain, antistreptolysin O antibody titer, elevated proteinuria, antineutrophil cytoplasmic antibodies present antinuclear antibody level, elevated anti-dsDNA antibodies, serum complement level, spinal tenderness, hyperhidrosis, generalized, gastroesophageal reflux, exocrine dysfunction of the pancreas restrictive ventilation pattern, obstructive ventilation pattern Lymphadenopathy on palpation, crackles, abdominal tenderness | null | null |
Female | 37 | c2609059 | Antisynthetase Syndrome | generalized arthralgia (time since onset: more than one year) abdominal pain (time since onset: more than one year) crepitus in knee, feeling of lump in the throat, palpitation (time since onset: more than one year) enlarged thyroid gland, rapid pulse (time since onset: more than one year) atrioventricular re-entrant tachycardia, right bundle branch block, myalgia (time since onset: more than one year), sensory deficit, upper extremity paresis, headache, gastroesophageal reflux, neuropathic pattern on EMG, antinuclear antibody level, elevated, tricolor pattern of discoloration of the fingers and toes, complement C3 level (result: reduced), knee pain, PIP joint pain (finger), elbow pain, painful dysesthesia of the upper extremity, painful dysesthesia of the trunk, posterior neck pain, dysphagia (time since onset: one month to one year), increased tearing, arthritis, muscle fasciculation, tenderness, MCP joints, tenderness, MTP joints, anti-PL 7 antibodies, aphthous ulcerations of the oral cavity (time since onset: more than one year) serum chromogranin A/B, elevated, proximal lower extremity paresis | swelling, joint, fever, urinary tract infection, skin rash, diarrhea, spinal tenderness, thyroglobulin antibodies, thyrotropin receptor antibodies, thyroid nodule on imaging, dry mouth, disorientation, muscle atrophy, muscular hypertonicity, muscular hypotonicity, clonus, cranial nerve disorder, complement C4 level, CRP, elevated, creatine kinase level, elevated, serum creatinine level, anemia, lupus anticoagulant antibodies, elevated elevated rheumatoid factor, immune deposits, antineutrophil cytoplasmic antibodies present ACE level, anti-dsDNA antibodies, anti-U1-RNP antibodies, anti-Sm antibodies, anti-SSA autoantibodies, anti-La (SS-B)-autoantibodies, anti-Scl-70, anti-Jo 1 antibodies, erythema of the joint, morning stiffness, dry eye, photophobia, weight loss, hyperhidrosis, generalized, leukopenia, anti-cyclic citrullinated protein antibodies uveitis, conjunctivitis, erythema, anti-SRP antibodies, anti-Ku antibodies, anti-PL 12 antibodies, anticardiolipin antibodies, elevated, anti-EJ antibodies, anti-OJ antibodies | null | null |
Male | 48 | c0263859 | SAPHO Syndrome | obstructive sleep apnea (time since onset: more than one year), aphthous ulcerations of the oral cavity (time since onset: more than one year) headache (time since onset: one month to one year), effusion, ankle, osteoarthritis, kyphosis, memory difficulty (time since onset: more than one year), ankle pain (time since onset: more than one year laterality: bilateral), pustule on the foot, disc degeneration, osteomyelitis, back pain (time since onset: more than one year) | nasal discharge ankle fracture | null | diabetes mellitus elevated BMI |
Male | 52 | c0085655 | Polymyositis | headache (time since onset: one month to one year), sore throat (time since onset: one month to one year), fever (high grade: no time since onset: one month to one year), myalgia (time since onset: one month to one year), groin pain (time since onset: one month to one year), scrotal pain (time since onset: one month to one year), lower extremity pain (time since onset: one month to one year), hyperhidrosis, generalized (night sweats: yes time since onset: one month to one year) weight loss (more than 10% of body weight within six months: no), nocturia (time since onset: one month to one year), CRP, elevated, vitamin D level, decreased, parathyroid hormone level (result: elevated), elevated rheumatoid factor, myositis, anemia, leukocytosis, thrombocytopenia, sodium level (result: elevated), gamma gt level, elevated, IgG4 level (result: elevated), complement C4 level (result: elevated), proteinase 3 antibody titer, elevated, anti-smooth-muscle antibodies, glomerular filtration rate, reduced, cardiac ejection fraction (result: reduced) | venous thrombosis, IgA level, IgG level, antinuclear antibody level, elevated antineutrophil cytoplasmic antibodies present anti-dsDNA antibodies, anti-SSA autoantibodies, anti-La (SS-B)-autoantibodies, anti-Sm antibodies, anti-Jo 1 antibodies, anti-U1-RNP antibodies, anti-Scl-70, Hepatitis B virus, hepatitis C virus, confirmed human immunodeficiency virus infection Treponema pallidum antigen, antimitochondrial antibody, anti-soluble liver antigens antibodies, parietal cell antibodies, heart valve defect, partial thromboplastin time | null | null |
Female | 33 | c0162323, c1527336 | Chronic Polyarthritis, Sjogren's syndrome | gastric mucosal inflammation, antinuclear antibody level, elevated, anti-SSA autoantibodies, IgG level (result: elevated), intestinal inflammation, wrist pain (laterality: bilateral time since onset: one month to one year), finger joint pain (laterality: bilateral time since onset: one month to one year) tarsometatarsal joint pain (laterality: bilateral time since onset: one month to one year) ankle pain (laterality: bilateral time since onset: one month to one year), knee pain (laterality: bilateral time since onset: one month to one year), myalgia (time since onset: one month to one year), muscle cramps (time since onset: one month to one year), morning stiffness, dry mouth, headache (laterality: unilateral time since onset: more than one year), swelling, wrist, swelling, knee (laterality: bilateral), tenderness, MCP joints (laterality: bilateral), tenderness, MTP joints (laterality: bilateral), Total IgE level, elevated, elevated rheumatoid factor, microcytic anemia, procalcitonin level, elevated, hypolacrimation, anti-cyclic citrullinated protein antibodies | anti-U1-RNP antibodies, anti-Sm antibodies, anti-La (SS-B)-autoantibodies, antineutrophil cytoplasmic antibodies present C3 nephritic factor level, elevated, IgA level, complement C3 level, complement C4 level, tubular necrosis, focal segmental glomerulosclerosis serum creatinine level, glomerular filtration rate, reduced proteinuria, hematuria, anti-Jo 1 antibodies, anti-alpha-fodrin antibodies anticardiolipin antibodies, elevated anti-dsDNA antibodies, creatine kinase level, elevated leukocyte level, platelet count, CRP, elevated, transaminase levels, elevated, lactate dehydrogenase level, elevated diffusion capacity, neutropenia, splenomegaly, hepatomegaly, bone erosion of a joint | null | null |
Male | 40 | c0012940 | Spondyloarthritis | chest pain (position: retrosternal radiating: yes respiration: exacerbates time since onset: one month to one year) heartburn, fever (time since onset: one month to one year), reduced exercise tolerance (time since onset: more than one year), CRP, elevated, leukocytosis, crackles, polyserositis, fatigue (time since onset: more than one year) alanine transaminase level, elevated, gamma gt level, elevated, lower back pain (radiating down the leg: yes time since onset: one month to one year) inflammatory back pain, morning stiffness, knee pain (time since onset: more than one year laterality: bilateral), elbow pain (time since onset: more than one year laterality: bilateral), erosion and ulceration of the back (time since onset: more than one year), limited range of motion of the spine, chest tightness, shortened PR interval on ECG, steatosis hepatis, hepatic mass seen on imaging, prostate enlargement, diffusion capacity (result: reduced), sacroiliitis, Interleukin 2 receptor, elevated, positive interferon gamma release assay for tuberculosis | pericardial effusion, pleural effusion, erythrocyte sedimentation rate procalcitonin level, elevated cardiac ejection fraction anti-SSA autoantibodies, anti-OJ antibodies, anti-EJ antibodies, anti-PL 12 antibodies, anti-PL 7 antibodies, anti-SRP antibodies, anti-Jo 1 antibodies, anti-PmScl antibody titer, anti-Ku antibodies, MI-2 antibody titer, MEFV gene mutation, glomerular filtration rate, reduced anemia, platelet count, TNFRSF1A gene mutation NLRP3 gene mutation, swelling, joint, abdominal lymphadenopathy pulmonary infiltrates, HLA-B27 positive | null | smoker |
Male | 45 | c0004943, c0012940 | Behcet's disease, Spondyloarthritis | headache (laterality: unilateral time since onset: more than one year), sensory deficit, arm (distribution: unilateral time since onset: more than one year), sensory deficit, lower extremity (distribution: unilateral time since onset: more than one year) double vision (time since onset: more than one year), impaired vision (time since onset: more than one year), gait impairment, leukocytosis, vitamin D level, decreased, exophthalmos, hypolacrimation, kidney stone, renal tubular acidosis type 1, vesicle on the trunk (erythematous: yes pain: yes pruritus: yes), reduced exercise tolerance (time since onset: one month to one year), dyspnea (severity: on exertion), aural fullness, mitral valve regurgitation on imaging, vertigo, ear noise (laterality: unilateral), uric acid level (result: reduced), thyroid stimulating hormone level (result: elevated), hemiparesis, pustule on the trunk (time since onset: one month to one year), dry mouth, neck pain, finger joint pain, aphthous ulcerations of the oral cavity (time since onset: one month to one year), hearing deficit (laterality: unilateral time since onset: one month to one year), arthritis, other location | ataxia, disorientation, meningism, Lhermitte's sign, cranial nerve disorder, lower extremity paresis, upper extremity paresis, extensor plantar reflex, clonus, ischemic infarction, intracerebral hemorrhage, intracranial hemorrhage, galactorrhea, chest pain, weight loss, blood pressure, cardiac ejection fraction, left ventricular hypertrophy, heart valve defect, positive pathergy test, elevated rheumatoid factor, ACE level, beta 2 microglobulin level, elevated pathologically increased cryoglobulin level uveitis | null | smoker |
Female | 81 | c0010403 | Cryoglobulinemia | headache (time since onset: one month to one year bending forward: exacerbates) alanine transaminase level, elevated, aspartate transaminase level, elevated, hepatitis C virus, antinuclear antibody level, elevated, erythrocyte sedimentation rate (result: elevated), CRP, elevated, anti-smooth-muscle antibodies, antimitochondrial antibody, leukocytoclastic vasculitis, lower extremity pain, complement C3 level (result: reduced), complement C4 level (result: reduced), pathologically increased cryoglobulin level, peripheral polyneuropathy, tricolor pattern of discoloration of the fingers and toes feeling of heavy legs, swelling of the lower extremity, foot pain, fatigue, petechiae | antineutrophil cytoplasmic antibodies present leukocyte level, hemoglobin level, platelet count, abdominal pain, serum creatinine level, alkaline phosphatase level anti-U1-RNP antibodies, anti-Sm antibodies, anti-SSA autoantibodies, anti-La (SS-B)-autoantibodies proteinase 3 antibody titer, elevated myeloperoxidase antibodies present anti-Scl-70, anti-dsDNA antibodies, cold agglutinin, erosions and ulcerations of the skin | alcohol abuse smoker | Hx: hypertension |
Female | 52 | c0002726 | Mixed Amyloidosis | dyspnea (time since onset: more than one year) bone pain (time since onset: more than one year) CRP, elevated, chest pain (position: unilateral), diminished sense of taste, intestinal meteorism, renal insufficiency, proteinuria (intensity: moderate to severe) serum amyloid A, elevated, amyloid protein deposition, Total IgE level, elevated, positive interferon gamma release assay for tuberculosis | erythrocyte sedimentation rate, mycobacterium tuberculosis in lower respiratory tract mycobacterium tuberculosis in upper respiratory tract mycobacterium tuberculosis in urine, mycobacterium tuberculosis in blood, positive tuberculin skin test | null | null |
Female | 39 | c0024141, c0007134 | Systemic Lupus Erythematosus (SLE), Renal Cell Carcinoma | knee pain (time since onset: one month to one year activity: no effect intensity: severe colchicine: no effect alcohol: no effect laterality: bilateral diet rich in purine deep vein thrombosis, pulmonary embolism, Factor V level (result: reduced), arthritis, uveitis, antinuclear antibody level, elevated anti-beta 2 glycoprotein antibodies, elevated lymphopenia, microhematuria, proteinuria, renal insufficiency, renal mass seen on imaging glomerulonephritis, malignant cells in renal tissue | null | sa: ntoi-edffseDcNt)A antibodies elevated rheumatoid factor complement C3 level complement C4 level | null |
Female | 40 | c0020630 | Hypophosphatasia | short stature, lower extremity pain (laterality: bilateral) dental abnormalities, alopecia, proof of miscarriage, evidence of ectopic pregnancy in ultrasound fatigue, unexplained fracture, alkaline phosphatase level (result: reduced) | parathyroid hormone level vitamin D level, decreased | null | null |
Male | 42 | c0033838 | Kimura Disease | soft tissue lump on the face (time since onset: one month to one year change in size: yes tenderness: tender consistency: firm) preauricular lymphadenopathy (time since onset: one month to one year), Total IgE level, elevated, eosinophilic infiltrate, antistreptolysin O antibody titer, elevated anti-alpha-fodrin antibodies, parathyroid hormone level (result: elevated) steatosis hepatis, blue skin, transaminase levels, elevated gamma gt level, elevated cholesterol level (result: elevated) | sensory deficit, face facial muscle weakness | null | null |
Female | 32 | c0038013 | Ankylosing spondylitis (Spondyloarthritis) | neck pain (time since onset: one month to one year) leukocytosis, thrombocytosis, swelling, wrist (time since onset: one month to one year), wrist pain (time since onset: one month to one year), increased range of joint motion, shoulder pain (laterality: unilateral), elbow pain (laterality: unilateral), knee pain (laterality: unilateral), heel pain (laterality: bilateral), lower back pain, gluteal pain HLA-B51 positive | HLA-B27 positive | null | null |
Female | 54 | c0003872 | Psoriatic arthritis (Spondyloarthritis) | antinuclear antibody level, elevated, creatine kinase level, elevated, weight gain (rapid: no), erythema of the trunk (scaly surface: yes time since onset: more than one year) cholesterol level (result: elevated), thyroid stimulating hormone level (result: elevated), scaling skin of the extensor surfaces of the extremities, arthralgia (time since onset: more than one year), morning stiffness (time since onset: one month to one year), enthesitis, fatigue, shoulder pain (laterality: unilateral), exocrine dysfunction of the pancreas, tenderness, MCP joints (laterality: bilateral), tenderness, MTP joints (laterality: bilateral), general muscle weakness (time since onset: more than one year), myalgia (time since onset: more than one year), skin rash of the extensor surfaces of the extremities (elevated: yes time since onset: more than one year) heel pain, dry eye, effusion, knee, tenderness, knee, tenderness, hip | CRP, elevated | null | null |
Male | 48 | c0034155 | Thrombotic thrombocytopenic purpura (TTP) | vertigo, imbalance, thrombocytopenia, alanine transaminase level, elevated, impaired concentration, reduced exercise tolerance (time since onset: one day to one week) lactate dehydrogenase level, elevated, serum creatinine level (result: elevated), glomerular filtration rate, reduced, blood urea nitrogen level (result: elevated), aspartate transaminase level, elevated, lipase level, elevated, procalcitonin level, elevated, hemoglobin level (result: reduced), d-dimer level in blood, elevated, ADAMTS-13 activity, decreased, trigeminal nerve disorder, schistocytes, partial loss of consciousness | null | null | null |
Female | 66 | c0010403 | Cryoglobulinemia | extremity pain (time since onset: one month to one year), painful dysesthesia of the hand (distribution: asymmetrical time since onset: one month to one year) neck pain (time since onset: one month to one year), limited range of motion of the wrist (time since onset: one month to one year), weight loss, complement C3 level (result: elevated), CRP, elevated, erythrocyte sedimentation rate (result: elevated), alpha 2 globulin level (result: elevated), ferritin level (result: elevated), alanine transaminase level, elevated, stenosis of the subclavian artery, pathologically increased cryoglobulin level, erosion and ulceration of the lower extremity, elevated rheumatoid factor | proteinase 3 antibody titer, elevated myeloperoxidase antibodies present complement C4 level, antinuclear antibody level, elevated | null | null |
Male | 47 | c3203653 | IgG4-related disease | proof of acute pancreatitis hypothyroidism, antinuclear antibody level, elevated obstructive sleep apnea, thyroid stimulating hormone level (result: elevated) thyroid peroxidase antibodies, free T4 (result: reduced), leukocytosis, lipase level, elevated CRP, elevated, gallstone, gamma gt level, elevated pruritus, speech difficulties, stenosis of the carotid artery, vasculitis, dilated cardiomyopathy, bradycardia on ECG, atrioventricular dissociation, erythrocyte sedimentation rate (result: elevated) perinuclear anti-neutrophil cytoplasmic antibodies present parathyroid hormone level (result: elevated), macrocytic anemia, depressed mood, nausea, weight loss, IgG4 level (result: elevated) | pancreatic pseudocyst/ cyst transaminase levels, elevated cardiac ejection fraction calcium level, anti-dsDNA antibodies | null | smoker |
Male | 70 | c3203653, c0035357 | IgG4-related disease, Retroperitoneal fibrosis | dilated renal calyces, ureteric stenosis, serum creatinine level (result: elevated), CRP, elevated, periaortic fibrotic mass, splenic mass seen on imaging, hydroureter, retroperitoneal fibrosis, predominance of IgG4 positive plasma cells in histopathology plasma cell infiltration | flank pain, renal mass seen on imaging Lymphadenopathy on investigation | null | null |
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