Term
Bud-Chiari Syndrome
aka
Post hepatic venous thrombosis
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Definition
| Abdominal Pain, ascites, hepatomegaly |
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Term
| Familial Hypercholesterolemia |
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Definition
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Term
Waterhouse-Friderichsen Syndrome
Meningococcemia |
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Definition
| Adrenal hemorrhage, hypotension, DIC |
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Term
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Definition
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
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Term
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Definition
| Athlete with polycythemia |
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Term
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Definition
| Back pain, fever, night sweats, weight loss |
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Term
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Definition
Bilateral hilar adenopathy, uveitis
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Term
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Definition
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Term
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Definition
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Term
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Definition
Bone pain, bone enlargement, arthritis
increased osteoblastic and osteoclastic activity |
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Term
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Definition
| Bounding pulses, diastolic heart murmur, head bobbing |
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Term
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Definition
Pheochromocytoma, optic gliomas
Cafe-au-lait spots, Lisch nodules |
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Term
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Definition
Bilateral acoustic neuromas
Cafe-au-lait spots, Lisch nodules
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Term
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Definition
masaic G-protein signaling mutation
Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty |
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Term
| Muscular Dystrophy (Duchennes) |
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Definition
Calf Pseudohypertrophy
X-linked recessive deleted gene |
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Term
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Definition
Cherry red spot on macula
Ganglioside accumulation |
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Term
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Definition
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Term
| Central retinal artery occlusion |
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Definition
| Cherry red spot on macula |
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Term
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Definition
Chest pain, pericardial effusion/friction rub
persistent fever following MI
Autoimmune-mediated post-MI (1-12 weeks) fibrinous pericarditis |
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Term
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Definition
| Child Uses arms to stand up from squat |
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Term
Parvo B19
erythema infectiosum |
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Definition
| Child with fever develops red rash on face that spreads to body |
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Term
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Definition
Autosomal dominant CAG repeat
Chorea, dementia, Cuadate degeneration
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Term
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Definition
muscle phosphorylase deficiency
Chronic exercise intolerance with myalgia, fatigue, painful cramps |
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Term
Internuclear opthalmoplegia
MLF lesion |
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Definition
Stroke or MS
Conjugate lateral gaze palsy, horizontal diplopia |
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Term
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Definition
| Continuous Machinery Murmur |
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Term
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Definition
Myxedema - cutaneous dermal edemea due to connective tissue deposition
Hypothyroidism
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Term
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Definition
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Term
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Definition
Diabetic ketoacidosis
Deep labored breathing, hyperventilation |
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Term
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Definition
Niacin Deficiency
Dermatitis, Dementia, diarrhea |
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Term
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Definition
Thiamine deficiency
Dilated Cardiomyopathy, edema, polyneuropathy |
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Term
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Definition
Cellulitis at inoculation site
Dog or Cat bite resulting in infection |
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Term
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Definition
May progress to esophageal squamous cell carcinoma
Dysphagia, Glossitis, Iron deficiency anemia |
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Term
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Definition
Autoimmune destruction of exocrine glands
Dry eyes, mouth, arthritis
SSA/Rho
SSB/La
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Term
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Definition
Collagen type III defect
Elastic Skin, hypermobility of joints
Berry Aneurysms |
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Term
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Definition
Abdominal Metastasis
Left Supraclavicular |
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Term
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Definition
Cutaneous T-cell Lymphoma
or Mycosis Fungoides
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
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Term
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Definition
Hypocalcemia
Facial muscle spasm upon tapping
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Term
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Definition
Bile Duct blockage
Fat, female, forty, fertile |
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Term
| Jarisch-herxheimer reaction |
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Definition
rapid lysis of spirochetes rusults in toxin release
Fever, chills, headache, myalgia following antibiotic treatment for syphilis
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Term
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Definition
| Fever, Caugh, coryza, conjunctivitis, diffuse rash |
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Term
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Definition
Lymphoma
Fever, night sweats, weight loss |
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Term
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Definition
| Fibrous plaques in soft tissue of penis |
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Term
Lesch-Nyhan Syndrome
pathology |
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Definition
| HGPRT deficiency, X-linked recessive |
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Term
Lesch Nyhan Syndrome
Presentation |
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Definition
Gout, mental retardation, self-mutilating behavior in boy
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Term
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Definition
Hamartomatous GI polyps, Hyperpigmentation of mouth/feet/hands
Bowel Obstruction, INcreased cancer risk |
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Term
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Definition
glucocerebrosidase deficiency
Hepatosplenomegaly, osteoporosis, neurologic symptoms
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Term
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Definition
| Hereditary nephritis, sensorineural hearing loss, cataracts |
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Term
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Definition
Hypercoagulability leading to migrating DVT's and vasculitis
indicates adenocarcinoma of pancreas or lung |
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Term
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Definition
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Bilateral amygdala lesion
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Term
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Definition
| Hypertension, hypokalemia, metabolic acidosis |
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Term
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Definition
Hypoxemia, polycythemia, hypercapnia
Hyperplasia of mucous cells |
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Term
Nonpainful chancre
Painful |
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Definition
Indurated Ulcerated genital lesion
Nonpainful:Due to Syphilis
Painful with Exudate: Chancroid (H. ducreyi) |
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Term
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Definition
Infant with failure to thrive, hepatosplenomegaly, neurodegeneration
Sphingomyelinase Deficiency |
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Term
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Definition
Infant with Hypoglycemia, Failure to thrive, Hepatomegaly
Debranching enzyme deficiency |
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Term
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Definition
Infant with microcephaly, rocker-bottom feet, clenched hands, structural heart defect
Trisomy 18 |
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Term
Charcot's Triad
ascending cholangitis |
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Definition
| Jaundice, RUQ pain, fever |
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Term
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Definition
| Keratin Pearls on Skin biopsy |
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Term
| Erythema Chronicum Migrans |
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Definition
Large rash with bull's-eye appearance
Ixodes
Borrelia |
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Term
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Definition
Lucid interval after traumatic brain injury
middle meningeal artery rupture |
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Term
Bruton's disease
X-linked Agammaglobulinemia |
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Definition
| Male child, recurrent infections, no mature B cells |
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Term
| Glanzmann's Thrombasthenia |
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Definition
Mucosal bleeding and prolonged bleeding time
lack of IIB/IIIA |
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Term
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Definition
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Subtype of FAP |
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Term
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Definition
Necrotizing vasculitis (lungs), necrotizing glomerulonephritis
C-ANCA |
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Term
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Definition
Necrotizing Vasculitis (lungs), necrotizing glomerulonephritis
Anti-basement membrane antibodies |
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Term
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Definition
Neonate with arm paralysis following difficult birth
Superior trunk (C5- C6) |
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Term
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Definition
| No lactation postpartum, absent, menstruation, cold intolerance |
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Term
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Definition
| Nystagmus, intention tremor, scanning speech, bilateral internuclear opthalmoplegia |
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Term
| Cheyne-Stokes respirations |
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Definition
Oscillating slow/fast breathing
Central apnea in CHF or increased ICP |
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Term
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Definition
Painful blue fingers/toes, hemolytic anemia
Autoimmune hemolysis caused by M. Pneumoniae, infectious mononucleosis |
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Term
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Definition
Painful, pale, cold fingers/toes
Vasospasm in extremities |
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Term
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Definition
Painful, raised red lesions on palms and soles
Infective endocarditis |
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Term
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Definition
Painless erythematous lesions on palms and soles
Infective endocarditis |
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Term
| Cancer of Pancreatic head |
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Definition
| Painless jaundice and bile duct obstruction |
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Term
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Definition
Palbable purpura, joint pain, abdominal pain (child)
IgA vasculitis affecting skin and kidneys |
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Term
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Definition
| Pancreatic, pituitary, parathyroid tumors |
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Term
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Definition
proximal tubular reabsorption defect
Polyuria, acidosis, growth failure, electrolyte imbalance |
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Term
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Definition
sympathetic chain lesion
Ptosis, miosis, anhidrosis |
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Term
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Definition
Rapidly progressive leg weakness that ascends
following GI/upper respiratory infection |
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Term
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Definition
2ndary syphilis
Rocky Mountain spotted fever
Coxsackie A |
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Term
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Definition
Recurrent colds
unusual eczema
high serum IgE
Hyper-IgE syndrome: neutrophil chemotaxis abnormality |
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Term
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Definition
| red "current jelly" sputum in alcoholic or diabetic |
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Term
| Paget's disease of the breast |
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Definition
Red, itchy, swollen rash of nipple/areola
represents underlying neoplasm |
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Term
| Paroxysmal nocturnal hemoglobinuria |
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Definition
Red urine in the morning
fragile RBC's |
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Term
| Von Hippel-Lindau disease |
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Definition
Renal cell carcinoma
hemangioblastomas
angiomatosis
pheochromocytoma
Autosomal dominant tumor suppressor gene mutation |
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Term
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Definition
Restrictive Cardiomyopathy
juvenile form: cardiomegaly
Exercise intolerance
lysosomal glucosidase deficiency |
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Term
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Definition
Retinal hemorrhages with pale centers
bacterial endocarditis |
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Term
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Definition
Severe jaundice in neonate
congenital unconjugated hyperbilirubinemia |
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Term
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Definition
Short stature
increased incidence of tumors/leukemia
aplastic anemia
Autosomal recessive, often progresses to AML |
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Term
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Definition
dynein defect affecting cilia
Situs inversus, chronic sinusitis, bronchiectasis |
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Term
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Definition
primary adrenocortical insufficiency of autoimmune or infectious etiology
Skin hyperpigmentation |
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Term
| Becker's muscular dystrophy |
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Definition
X-linked defective dystrophin; less severe than duchenne's
SLow progressive muscle weakness in boys |
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Term
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Definition
measles
small, irregular red spots on buccal/ lingual mucosa with blue-white centers |
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Term
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Definition
Smooth flat, moist white lesions on genitals
secondary syphilis |
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Term
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Definition
| Scarlet fever, Kawasaki disease, toxic shock syndrome |
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Term
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Definition
XO, short stature, webbed neck, lyphedema
Streak ovaries
Congenital heart disease
horseshoe kidney |
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Term
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Definition
Hyperuricemia
Sudden swollen/painful big toe join
Tophi |
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Term
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Definition
Vit C deficiency, can't hydroxylate proline/lysine for collagen synthesis
Swollen gums
Mucous bleeding
Poor wound healing
Spots on skin |
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Term
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Definition
Osteophytes on PIP (bouchard's), DIP (heberdens)
Swollen, hard, painful finger joints
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Term
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Definition
| Systolic ejection murmur (crescendo-decrescendo) |
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Term
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Definition
Thyroid
Parathyroid
Pheochromocytoma |
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Term
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Definition
LMN CN VII palsy
Unilateral facial drooping involving forehead |
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Term
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Definition
(Reactive arthritis associated with HLA-B27)
Urethritis, conjunctivitis, arthritis in male |
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Term
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Definition
Benign
Associated with Sturge-Weber Syndrome
Vascular birthmark (port-wine stain) |
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Term
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Definition
Follows second exposure to endotoxin
Vasculitis from exposure to endotoxin causing glomerular thrombosis |
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Term
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Definition
Alcoholic and bulimic patients
Vomiting blood following esophagogoastric lacerations |
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Term
Chronic end-stage renal disease
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Definition
| Waxy casts with very low urine volume |
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Term
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Definition
WBC casts in urine
Acute pyelonephritis |
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Term
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Definition
Tropheryma Whippelii
Weight loss
diarrhea
arthritis
fever
adenopathy |
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Term
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Definition
Worst headache of my life
Most commonly a berry anuerysm |
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