| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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uric acid nephrolithiasis
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acute urate nephropathy; Uric acid nephrolithiasis..
[+]
acute urate nephropathy; Uric acid nephrolithiasis; Uric acid urolithiasis
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A nephrolithiasis that is characterized by stones .. [+]A nephrolithiasis that is characterized by stones composed predominantly uric acid.
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hemolytic anemia
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ANEMIA HEMOLYTIC
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A normocytic anemia that is characterized by the r.. [+]A normocytic anemia that is characterized by the rate of descruction of red blood cells exceeding the rate than they can be made.
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1 articles
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juvenile rheumatoid arthritis
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acute juvenile rheumatoid arthritis; monarticular ..
[+]
acute juvenile rheumatoid arthritis; monarticular juvenile rheumatoid arthritis; pauciarticular juvenile arthritis; juvenile idiopathic arthritis; systemic juvenile rheumatoid arthritis; Pauciarticular onset juvenile chronic arthritis; Still's disease; juvenile chronic polyarthritis
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A rheumatoid arthritis that involves an autoimmune.. [+]A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint.
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hepatocellular carcinoma
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adult primary hepatocellular carcinoma; adult Hepa..
[+]
adult primary hepatocellular carcinoma; adult Hepatoma; HCC; Hepatoma
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A liver carcinoma that has_material_basis_in undif.. [+]A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.
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2 articles
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normocytic anemia
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ANEMIA NORMOCYTIC; Normocytic anemia (disorder); N..
[+]
ANEMIA NORMOCYTIC; Normocytic anemia (disorder); Normocytic normochromic anemia
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An anemia that is characterized by circulating red.. [+]An anemia that is characterized by circulating red blood cells that are the same size and have a normal red color and a mean corpuscular volume (MCV) between 80 and 100 fL.
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18 articles
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epididymis adenomatoid tumor
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adenomatoid neoplasm of the epididymis; benign Epi..
[+]
adenomatoid neoplasm of the epididymis; benign Epididymal epithelial Mesothelioma
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A male reproductive organ benign neoplasm that is .. [+]A male reproductive organ benign neoplasm that is located_in the epididymis.
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peptic ulcer disease
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acute peptic ulcer without hemorrhage AND without ..
[+]
acute peptic ulcer without hemorrhage AND without perforation; acute peptic ulcer with hemorrhage; acute peptic ulcer without hemorrhage AND without perforation (disorder); acute peptic ulcer without hemorrhage and without perforation; acute peptic ulcer with hemorrhage and perforation
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n_a
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peptic ulcer perforation
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acute peptic ulcer with perforation; Peptic ulcer ..
[+]
acute peptic ulcer with perforation; Peptic ulcer with perforation (disorder); Perforated peptic ulcer; Unspecified peptic ulcer with perforation (disorder); Peptic ulcer with perforation
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n_a
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muscular atrophy
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Amyotrophia; Muscle wasting; Wasting - muscle
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n_a
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1 articles
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periapical periodontitis
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Apical periodontitis NOS; Apical periodontitis; Ap..
[+]
Apical periodontitis; Apical periodontitis NOS; Apical periodontitis (disorder)
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n_a
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extrinsic allergic alveolitis
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alveolitis; hypersensitivity pneumonitis
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An interstitial lung disease involving inflammatio.. [+]An interstitial lung disease involving inflammation of alveoli and smallest airways (bronchioles) of the lung caused by an allergic reaction to inhaled organic dusts containing microorganisms or proteins, and chemicals. Symptoms include chills, cough, fever, malaise, shortness of breath, loss of appetite and weight loss.
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cyclothymic disorder
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Affective personality disorder; Cyclothymic person..
[+]
Affective personality disorder; Cyclothymic personality; Cyclothymia; Cycloid personality
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A bipolar disorder that involves recurrent hypoman.. [+]A bipolar disorder that involves recurrent hypomanic and dysthymic episodes, but no full manic episodes or full major depressive episodes.
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vasculitis
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Angiitis
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A vascular disease that is characterized by inflam.. [+]A vascular disease that is characterized by inflammation of the blood vessels.
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chronic leukemia
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adult chronic leukemia; CLL; CML
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A leukemia that develops slowly.
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Fanconi syndrome
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adult Fanconi syndrome; adult Fanconi Anemia; De T..
[+]
adult Fanconi Anemia; adult Fanconi syndrome; De Toni-Fanconi syndrome; Fanconi-de Toni syndrome; Fanconi-de-Toni syndrome; Infantile nephropathic cystinosis; Lignac-Fanconi syndrome; Congenital Fanconi syndrome (disorder); Congenital Fanconi syndrome; deToni Fanconi syndrome
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A renal tubular transport disease of the proximal .. [+]A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting.
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2 articles
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hemolytic disease of the fetus
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alloimmune HDFN; (Haemolytic disease due to rhesus..
[+]
alloimmune HDFN; (Haemolytic disease due to rhesus isoimmunisation) or (erythroblastosis fetalis) or (rhesus isoimmunisation of the newborn); erythroblastosis fetalis; EF - Erythroblastosis foetalis; Haemolytic disease due to rhesus isoimmunisation; rhesus isoimmunisation of the newborn; fetal erythroblastosis; Hemolytic disease of the fetus and newborn
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A microcytic anemia that is characterized by Rho(D.. [+]A microcytic anemia that is characterized by Rho(D) incompatibility, which may develop when a woman with Rh-negative blood is impregnated by an individual with Rh-positive blood and conceives a fetus with Rh-positive blood, sometimes resulting in hemolysis.
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brain cancer
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adult brain tumor; adult malignant brain neoplasm; ..
[+]
adult malignant brain neoplasm; adult brain tumor; brain neoplasm; malignant brain tumour; malignant primary brain neoplasm; malignant primary brain tumor; neoplasm of brain (disorder); neoplasm of unspecified nature of brain; neoplasm of unspecified nature of brain (disorder); primary brain neoplasm; primary malignant neoplasm of brain (disorder); tumor of the Brain; brain neoplasm, adult; primary brain tumor; BT - Brain tumour; malignant tumor of Brain; neoplasm of brain; primary malignant neoplasm of brain; malignant tumor of adult brain
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A central nervous system cancer that is characteri.. [+]A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain.
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9 articles
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18 matches
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Machado-Joseph disease
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Azorean disease; MJD; spinocerebellar ataxia 3; sp..
[+]
Azorean disease; MJD; spinocerebellar ataxia 3; spinocerebellar ataxia type 3; SCA3
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An autosomal dominant cerebellar ataxia that is ch.. [+]An autosomal dominant cerebellar ataxia that is characterized by slow degeneration of the hindbrain and has_material_basis_in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene.
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cholesterol embolism
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atheroembolism; cholesterol crystal embolism; tras..
[+]
atheroembolism; cholesterol crystal embolism; trash foot; warfarin blue toe syndrome; purple toe syndrome
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A vascular disease that is characterized by blood .. [+]A vascular disease that is characterized by blood vessel obstruction resulting from the release of cholesterol from the inside of blood vessels along the bloodstream.
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serous labyrinthitis
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acute serous labyrinthitis; serous labyrinthitis (..
[+]
acute serous labyrinthitis; serous labyrinthitis (disorder)
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A labyrinthitits in which bacterial toxins invade .. [+]A labyrinthitits in which bacterial toxins invade the inner ear. It is the most common complication of acute or chronic middle ear infections.
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rheumatic fever
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ACUTE RHEUMATIC FEVER; RhF - Rheumatic fever
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A connective tissue disease that develops from an .. [+]A connective tissue disease that develops from an antecedent Group A Streptococcal pharyngeal infection and has_symptom carditis, has_symptom polyarthritis, has_symptom chorea, has_symptom erythema marginatum, has_symptom subcutaneous nodules, has_symptom arthralgia, has_symptom prolonged PR interval, and/or has_symptom fever.
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thrombocytopenia due to platelet alloimmunization
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Auto-immune thrombocytopenia; Immune thrombocytope..
[+]
Auto-immune thrombocytopenia; Immune thrombocytopenia (disorder); Thrombocytopenia Due to Immune Destruction; Immune thrombocytopenia
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n_a
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lymphadenitis
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acute adenitis; acute lymphadenitis; Adenitis; chr..
[+]
Adenitis; acute lymphadenitis; acute adenitis; chronic Lymphadenitis; Inflammation of lymph node; chronic adenitis
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A lymph node disease that is characterized by an a.. [+]A lymph node disease that is characterized by an acute or chronic inflammation of one or more lymph nodes.
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1 articles
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breast adenoma
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Ademoma - breast
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A breast benign neoplasm that is has_material_basi.. [+]A breast benign neoplasm that is has_material_basis_in epithelial tissue in which tumor cells form glands or glandlike structures.
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breast adenomyoepithelioma
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adenomyoepithelioma of the breast; breast Adenomyo..
[+]
adenomyoepithelioma of the breast; breast Adenomyoepithelioma with malignant Change; malignant adenomyoepithelioma of breast
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A breast myoepithelial neoplasm that affects the b.. [+]A breast myoepithelial neoplasm that affects the breast and is characterized by biphasic proliferation of both epithelial and myoepithelial cells.
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Behcet's syndrome arthropathy
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Arthropathy in Behcet's syndrome involving upper a..
[+]
Arthropathy in Behcet's syndrome involving upper arm; Arthropathy in Behcet's syndrome involving lower leg; Arthropathy in Behcet's syndrome involving pelvic region and thigh; Arthropathy in Behcet's syndrome involving ankle and foot; Arthropathy in Behcet's syndrome involving shoulder region; Arthropathy in Behcet's syndrome involving multiple sites; Arthropathy in Behcet's syndrome involving hand; Arthropathy in Behcet's syndrome involving forearm; Behcet syndrome arthropathy
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n_a
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peritoneal mesothelioma
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advanced malignant peritoneal mesothelioma; Advanc..
[+]
advanced malignant peritoneal mesothelioma; Advanced malignant Mesothelioma of Peritoneum; malignant mesothelioma of peritoneum
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A peritoneum cancer that develops from cells of th.. [+]A peritoneum cancer that develops from cells of the mesothelium and is located_in the peritoneum.
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malignant mesothelioma
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asbestos-related malignant mesothelioma; advanced ..
[+]
asbestos-related malignant mesothelioma; advanced malignant mesothelioma; malignant tumor of Mesothelium; Diffuse malignant Mesothelioma
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A cell type cancer that has_material_basis_in meso.. [+]A cell type cancer that has_material_basis_in mesothelial tissue that develops from the thin layer of tissue that covers many of the internal organs.
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childhood absence epilepsy
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absence seizure; pyknolepsy; petit mal seizure
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A childhood electroclinical syndrome that is chara.. [+]A childhood electroclinical syndrome that is characterized by brief and frequent absence seizures in children with age of onset between four and ten years.
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1 articles
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viral hepatitis
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animal viral hepatitis; human viral hepatitis; Uns..
[+]
animal viral hepatitis; human viral hepatitis; Unspecified viral hepatitis with hepatic coma; viral hepatitis with hepatic coma; Viral hepatitis with hepatic coma (disorder); Viral hepatitis with hepatic coma
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A hepatitis that involves viral infection causing .. [+]A hepatitis that involves viral infection causing inflammation of the liver.
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Gaucher's disease
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acid beta-glucosidase deficiency; glocucerebrosida..
[+]
acid beta-glucosidase deficiency; glocucerebrosidase deficiency; kerasin thesaurismosis; lipoid histiocytosis (kerasin type); glucosylceramide beta-glucosidase deficiency; Gaucher disease
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A sphingolipidosis characterized by deficiency of .. [+]A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver.
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cholecystitis
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acute cholecystitis; acute cholecystitis NOS (diso..
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acute cholecystitis; acute cholecystitis NOS (disorder); acute on chronic cholecystitis; acute cholecystitis unspecified (disorder); acute cholecystitis (disorder); acute and chronic cholecystitis (disorder); acute and chronic cholecystitis; chronic cholecystitis; chronic cholecystitis (disorder)
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A cholangitis that is characterized by an inflamma.. [+]A cholangitis that is characterized by an inflammation that is located in the gallbladder.
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rectum adenocarcinoma
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adenocarcinoma of rectum; adenocarcinoma of rectum..
[+]
adenocarcinoma of rectum; adenocarcinoma of rectum (disorder); Rectal adenocarcinoma
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A rectum cancer that derives_from epithelial cells.. [+]A rectum cancer that derives_from epithelial cells of glandular origin.
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minor vestibular glands adenoma
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adenoma of minor vestibular glands
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A vestibular gland benign neoplasm that is located.. [+]A vestibular gland benign neoplasm that is located_in the minor vestibular glands and is composed_of epithelial tissue in which tumor cells form glands or glandlike structures.
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vulva adenocarcinoma
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adenocarcinoma of Vulva; adenocarcinoma of the vul..
[+]
adenocarcinoma of Vulva; adenocarcinoma of the vulva
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A vulva carcinoma that derives_from epithelial cel.. [+]A vulva carcinoma that derives_from epithelial cells of glandular origin.
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nephroblastoma
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adult renal Wilms' tumor; adult nephroblastoma; ch..
[+]
adult nephroblastoma; adult renal Wilms' tumor; childhood renal Wilms tumor; childhood renal Wilms' cancer; renal Wilms tumor; Wilms' tumor
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A kidney cancer that affects the kidneys and typic.. [+]A kidney cancer that affects the kidneys and typically located_in children.
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hepatitis
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animal hepatitis; acute hepatitis; acute/subac. ne..
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acute hepatitis; animal hepatitis; acute/subac. necrosis of liver; acute and subacute liver necrosis; chronic hepatitis; chronic persistent hepatitis
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n_a
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pharyngitis
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acute sore throat; acute pharyngitis; chronic phar..
[+]
acute pharyngitis; acute sore throat; chronic pharyn/nasopharyngitis; chronic pharyngitis; chronic pharyngitis and nasopharyngitis; Inflamed throat; Persistent sore throat; Pharyngeal disorder; Pharyngitis - acute; Sore throat - chronic; chronic sore throat; pharyngeal disease
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An upper respiratory tract disease involving infla.. [+]An upper respiratory tract disease involving inflammation of the throat or pharynx resulting from bacterial, viral, fungal infections or irritants like pollutants or chemical substances and smoking. The infection is often referred to as sore throat. The symptoms include pain during swallowing, enlarged tonsils coated with a white discharge, runny nose, cough and slight fever.
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hidradenitis suppurativa
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Acne inversa, familial; Hidradenitis suppurativa; ..
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Acne inversa, familial; Hidradenitis suppurativa; Hidradenitis suppurativa (disorder)
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A hidradenitis that is characterized by chronic in.. [+]A hidradenitis that is characterized by chronic inflammation of the apocrine sweat glands, has_symptom painful nodules, abscesses, sinus tract formation, scarring, erythema, pruritis, and pain, and has_material_basis_in chronic inflammation of the apocrine sweat glands leading to recurrent folliculitis and an accompanying immune response that worsens inflammation.
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malt worker's lung
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alveolitis due to aspergillus clavatus; malt worke..
[+]
alveolitis due to aspergillus clavatus; malt worker lung; Malt-workers' lung; Malt workers' lung
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An extrinsic allergic alveolitis which is caused b.. [+]An extrinsic allergic alveolitis which is caused by inhalation of fungal spores of Aspergillus clavatus and Aspergillus fumigatus from moldy barley.
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myelophthisic anemia
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Anemia, leukoerythroblastic; ANEMIA LEUKOERYTHROBL..
[+]
Anemia, leukoerythroblastic; ANEMIA LEUKOERYTHROBLASTIC; Leukoerythroblastosis; myelophthisis
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An aplastic anemia that is characterized by displa.. [+]An aplastic anemia that is characterized by displacement of hemopoietic bone-marrow tissue either by fibrosis, tumors or granulomas.
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macrocytic anemia
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ANEMIA MACROCYTIC; Macrocytic anaemia of unspecifi..
[+]
ANEMIA MACROCYTIC; Macrocytic anaemia of unspecified cause; Macrocytic Anemia; Macrocytic anemia (disorder); Macrocytic anemia of unspecified cause (disorder); Macrocytic anemia; Macrocytic anaemia
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An anemia that is characterized by the production .. [+]An anemia that is characterized by the production of abnormally large red blood cells and mean corpuscular volume (MCV) (more than 100 fL).
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1 articles
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Takayasu's arteritis
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Aortic arch syndrome; aortic arch syndrome; Aortic..
[+]
aortic arch syndrome; Aortic arch syndrome; Aortic Arch syndrome; Aortic arch arteritis; (Aortic arch arteritis) or (Takayasu's disease[& pulseless]); Takayasu's disease; Idiopathic aortitis (disorder); Idiopathic aortitis; Takayasu arteritis
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A vasculitis that involves inflammation of the aor.. [+]A vasculitis that involves inflammation of the aorta that carries blood from the heart to the rest of the body.
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intracranial structure hemangioma
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Angioma of intracranial Structure; hemangioma of i..
[+]
Angioma of intracranial Structure; hemangioma of intracranial structure (disorder); hemangioma of intracranial structures; hemangioma of intracranial structures (disorder); hemangioma of intracranial structure
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n_a
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Landau-Kleffner syndrome
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acquired epileptic aphasia
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A childhood electroclinical syndrome that is chara.. [+]A childhood electroclinical syndrome that is characterized by the loss of language comprehension (auditory verbal agnosia) and verbal expression (aphasia) in association with severely abnormal electroencephalographic (EEG) findings during sleep and clinical seizures in most patients.
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1 articles
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suppurative periapical periodontitis
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Apical abscess; Suppurative apical periodontitis; ..
[+]
Apical abscess; Suppurative apical periodontitis; Periapical abscess (disorder); Periapical abscess; Dentoalveolar abscess
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n_a
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sebaceous adenoma
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adenoma of the Sebaceous gland; Sebaceous adenoma ..
[+]
adenoma of the Sebaceous gland; Sebaceous adenoma (morphologic abnormality); skin appendage sebaceous adenoma; Sebaceous adenoma
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n_a
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epidermolysis bullosa
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acantholysis bullosa; Epidermolysis bullosa (disor..
[+]
acantholysis bullosa; Epidermolysis bullosa (disorder); Epidermolysis bullosa
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A vesiculobullous skin disease that is characteriz.. [+]A vesiculobullous skin disease that is characterized by formation of blisters with only minor skin trauma, which can cause widespread wounds, dehydration, electrolyte abnormalities, and severe infection, frequently develops_from mutations in connective tissue elements, including genes encoding keratin, collagen, and laminin.
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skin atrophy
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Atrophoderma; Atrophy - skin; atrophic condition o..
[+]
Atrophy - skin; Atrophoderma; atrophic condition of skin
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n_a
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1 articles
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Hajdu-Cheney syndrome
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acroosteolysis with osteoporosis and changes in sk..
[+]
acroosteolysis with osteoporosis and changes in skull and mandible; arthrodentoosteodysplasia; HJCYS; serpentine fibula-polycystic kidney syndrome; SFPKS; Cheney syndrome
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A bone disease characterized by short stature, coa.. [+]A bone disease characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies that has_material_basis_in heterozygous mutation in the NOTCH2 gene on chromosome 1p12.
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