| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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peritonitis
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acute generalized peritonitis (disorder); acute ge..
[+]
acute generalized peritonitis (disorder); acute generalized peritonitis; primary bacterial peritonitis (disorder); Retractile mesenteritis; Retractile mesenteritis (disorder); sclerosing mesenteritis; primary bacterial peritonitis
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A gastrointestinal system disease that involves in.. [+]A gastrointestinal system disease that involves inflammation of the peritoneum resulting from perforation of the gastrointestinal tract, which produces immediate chemical inflammation followed shortly by infection from intestinal organisms. Peritonitis can also result from appendicitis, diverticulitis, strangulating intestinal obstruction, pancreatitis, pelvic inflammatory disease, mesenteric ischemia, intraperitoneal blood, barium, or peritoneo-systemic shunts, drains, and dialysis catheters in the peritoneal cavity. The symptoms include abdominal pain and tenderness, fever, fluid in the abdomen, nausea, vomiting and low urine output.
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kidney angiomyolipoma
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Angiomyolipoma of kidney; Angiomyolipoma of kidney..
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Angiomyolipoma of kidney; Angiomyolipoma of kidney (disorder); renal Angiomyolipoma
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n_a
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breast apocrine carcinoma in situ
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Apocrine carcinoma in situ of the breast
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A breast carcinoma in situ that is characterized b.. [+]A breast carcinoma in situ that is characterized by abundant eosinophilic apocrine cytoplasm and large nuclei. It is a variant of ductal carcinoma in situ of the breast.
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riboflavin deficiency
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ariboflavinosis; vitamin B2 deficiency
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A nutritional deficiency disease that is character.. [+]A nutritional deficiency disease that is characterized by stomatitis, cheilosis, glossitis, conjunctivitis, and anemia, develops_from vitamin B2 (riboflavin) deficiency, has_symptom red chapped lips, painful swollen tongue, sore throat, blurred vision, and fatigue, and has_material_basis_in inadequate intake, endocrine disorder, liver disorder, alcoholism, and dialysis.
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rheumatic myocarditis
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acute Rheumatic Myocarditis; acute rheumatic myoca..
[+]
acute Rheumatic Myocarditis; acute rheumatic myocarditis (disorder) [Ambiguous]; acute rheumatic myocarditis (disorder); acute rheumatic myocarditis; acute rheumatic carditis; active rheumatic fever with myocarditis; Rheumatic degeneration of myocardium; Rheumatic myocarditis (disorder); Rheumatoid myocarditis (disorder); Rheumatic fever with myocarditis; Rheumatic myocarditis; Rheumatoid myocarditis
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n_a
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maple bark strippers' lung
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alveolitis due to cryptostroma corticale; Maple ba..
[+]
alveolitis due to cryptostroma corticale; Maple bark-strippers' lung; Maple-bark strippers' lung (disorder); maple bark disease; maple bark stripper's lung; Maple-bark strippers' lung; maple bark stripper's disease
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An opportunistic mycosis that is located_in lungs .. [+]An opportunistic mycosis that is located_in lungs caused by inhalation of fungal spores while stripping the bark from maple logs, has_material_basis_in Cryptostroma corticale.
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gastroesophageal reflux disease
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Acid reflux; Gastresophageal reflux; Gastro-esopha..
[+]
Acid reflux; Gastresophageal reflux; Gastro-esophageal reflux; Gastroesophageal reflux; GERD; GERD - Gastro-esophageal reflux disease; Gastroesophageal reflux disease
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n_a
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1 articles
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malignant hyperthermia
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anesthesia related hyperthermia; malignant hyperpy..
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anesthesia related hyperthermia; malignant hyperpyrexia due to anesthesia
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A muscle tissue disease that is characterized by a.. [+]A muscle tissue disease that is characterized by a drastic and uncontrolled increase in skeletal muscle oxidative metabolism, which overwhelms the body's capacity to supply oxygen, remove carbon dioxide, and regulate body temperature and that has_material_basis_in heterozygous mutation in the ryanodine receptor gene (RYR1) on chromosome 19q13. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine).
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Kaposi's sarcoma
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anal Kaposi's sarcoma; African lymphadenopathic Ka..
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anal Kaposi's sarcoma; African lymphadenopathic Kaposi's sarcoma; central nervous system Kaposi's sarcoma; Conjunctival Kaposi's sarcoma; Corneal Kaposi's sarcoma; Cutaneous Kaposi's sarcoma; cutaneous Kaposi's sarcoma; esophageal Kaposi's sarcoma; gallbladder Kaposi's sarcoma; Kaposi sarcoma; Kaposi's sarcoma of conjunctiva (disorder); Kaposi's sarcoma of cornea (disorder); Kaposi's sarcoma of gastrointestinal sites; Kaposi's sarcoma of Heart; Kaposi's sarcoma of lung (disorder); Kaposi's sarcoma of lymph nodes; Kaposi's sarcoma of palate (disorder); Kaposi's sarcoma of penis; Kaposi's sarcoma of skin (disorder); Kaposi's sarcoma of soft tissue (disorder); Kaposi's sarcoma of soft tissues (disorder); Kaposi's sarcoma of the gallbladder; Kaposi's sarcoma, lung; Kaposi's sarcoma-associated herpesvirus (KSHV); lymphadenopathic Kaposi's sarcoma; palate Kaposi's sarcoma; prostate Kaposi's sarcoma; soft tissue Kaposi's sarcoma; Kaposi's sarcoma of anus; Kaposi's sarcoma of esophagus; Kaposi's sarcoma of lymph nodes (disorder); Kaposi's sarcoma of the CNS; Kaposi's sarcoma, skin; pulmonary Kaposi's sarcoma; cardiac Kaposi's sarcoma; conjunctival Kaposi's sarcoma; corneal Kaposi's sarcoma; intestinal Kaposi's sarcoma; Kaposi's sarcoma of central nervous system; Kaposi's sarcoma of conjunctiva; Kaposi's sarcoma of cornea; Kaposi's sarcoma of palate; Kaposi's sarcoma of skin; Kaposi's sarcoma of soft tissue; Kaposi's sarcoma of the prostate; lymph node Kaposi's sarcoma; Palate Kaposi's sarcoma; penis Kaposi's sarcoma; gastric Kaposi's sarcoma; Kaposi's sarcoma of lung; Kaposi's sarcoma of soft tissues
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A connective tissue cancer that derives_from lymph.. [+]A connective tissue cancer that derives_from lymphatic endothelium, and derives_from spindle cells, results_in_formation_of vascular channels that fill with blood cells, has_material_basis_in Human herpesvirus 8 (HHV8).
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neurofibromatosis
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Acoustic neurofibromatosis; Neurofibromatosis 1; n..
[+]
Acoustic neurofibromatosis; Neurofibromatosis 1; neurofibromatosis type 1; neurofibromatosis type 4; neurofibromatosis type IV; Recklinghausen's neurofibromatosis; type IV neurofibromatosis of riccardi; von Reklinghausen disease; neurofibromatosis type 2; central Neurofibromatosis; peripheral Neurofibromatosis
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n_a
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2 articles
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intermediate coronary syndrome
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Anginal chest pain at rest; Angina at rest; (Angin..
[+]
Angina at rest; Anginal chest pain at rest; (Angina: [crescendo] or [unstable] or [at rest]) or (preinfarction syndrome) or (impending infarction); Impending infarction (disorder); Preinfarction angina; Preinfarction angina (disorder); Impending infarction; Worsening angina; Unstable angina
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n_a
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rosacea
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Acne, erythematosa; Acne roscea
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n_a
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learning disability
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Academic skill disorder; learning disorder
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A specific developmental disorder that involves di.. [+]A specific developmental disorder that involves difficulty in scholastic skills such as reading, writing, spelling, reasoning, recalling and/or organizing information resulting from the brain's inability to receive and process information.
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1 articles
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sideroblastic anemia
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Anemia, hypochromic with iron loading; ANEMIA SIDE..
[+]
Anemia, hypochromic with iron loading; ANEMIA SIDEROBLASTIC
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A microcytic anemia where the bone marrow produces.. [+]A microcytic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes).
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psoriatic arthritis
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arthritis psoriatica; arthropathic psoriasis; psor..
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arthropathic psoriasis; arthritis psoriatica; psoriatic arthropathy
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An arthritis that is characterized by joint inflam.. [+]An arthritis that is characterized by joint inflammation that usually occurs in combination with psoriasis.
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cutaneous leishmaniasis
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Asian Desert Cutaneous Leishmaniasis; diffuse cuta..
[+]
Asian Desert Cutaneous Leishmaniasis; diffuse cutaneous leishmaniasis; Leproid leishmaniasis
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A leishmaniasis that involves skin infection cause.. [+]A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions.
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variola minor
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Alastrim; cottonpox; Variola minor; whitepox; milk..
[+]
Alastrim; cottonpox; Variola minor; whitepox; milkpox
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A smallpox that results_in milder infection, locat.. [+]A smallpox that results_in milder infection, located_in skin, has_material_basis_in Variola virus. The infection results_in_formation_of lesions.
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mucocutaneous leishmaniasis
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American cutaneous leishmaniasis; American mucocut..
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American cutaneous leishmaniasis; American mucocutaneous leishmaniasis (disorder); American mucocutaneous leishmaniasis; American Cutaneous Leishmaniasis; Cutaneous leishmaniasis, American; Mucocutaneous leishmaniasis, (American); Mucocutaneous leishmaniasis, American; New World cutaneous leishmaniasis; Mucocutaneous leishmaniasis
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A leishmaniasis that involves a chronic inflammato.. [+]A leishmaniasis that involves a chronic inflammatory process involving the nasal, pharyngeal, and laryngeal mucosa, which can lead to extensive tissue destruction, caused by protozoan parasites belonging to the genus Leishmania. The infection is characterized by granulomatous lesion which can destroy upper respiratory tract mucosa.
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Pallister-Hall syndrome
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A syndrome that is characterized by hypothalamic h..
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A syndrome that is characterized by hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations and has_material_basis_in autosomal dominant heterozygous mutation in the GLI3 gene on chromosome 7p14.; Pallister-Hall syndrome (disorder)
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A syndrome that is characterized by hypothalamic h.. [+]A syndrome that is characterized by hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations and has_material_basis_in autosomal dominant heterozygous mutation in the GLI3 gene on chromosome 7p14.
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1 articles
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citrullinemia
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ASS deficiency; deficiency of citrulline-aspartate..
[+]
ASS deficiency; deficiency of citrulline-aspartate ligase; classic citrullinemia
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An inherited urea cycle disorder that involves the.. [+]An inherited urea cycle disorder that involves the accumulation of ammonia and other toxic substances in the blood.
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hyperargininemia
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Arginase deficiency; argininemia; Arginase deficie..
[+]
argininemia; Arginase deficiency; Arginase deficiency (disorder); deficiency of canavanase
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An urea cycle disorder that involves arginase defi.. [+]An urea cycle disorder that involves arginase deficiency resulting in elevated levels of plasma arginine.
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status asthmaticus
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Asthma with status asthmaticus; Severe asthma atta..
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Asthma with status asthmaticus; Severe asthma attack
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An acute asthma that is characterized by an acute .. [+]An acute asthma that is characterized by an acute episode with a progressive severity that is poorly responsive to standard therapeutic measures, regardless of disease severity or phenotypic variant.
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tracheitis
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acute tracheitis; chronic tracheitis
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A tracheal disease which involves bacterial infect.. [+]A tracheal disease which involves bacterial infection of the trachea often caused by Staphylococcus aureus and streptococci that follows a recent viral upper respiratory infection. The symptoms include barking croup cough, loud squeaking noise while breathing, scratchy feeling in the throat, high fever, and production of large amounts of pus-filled secretions.
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croup
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acute Obstructive Laryngitis; acute laryngotracheo..
[+]
acute Obstructive Laryngitis; acute laryngotracheobronchitis; Croup syndrome; Laryngotracheobronchitis
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A respiratory system infectious disease that invol.. [+]A respiratory system infectious disease that involves inflammation, edema, and subsequent obstruction of the larynx, trachea, and bronchi. The disease is caused by viruses, bacteria, allergies and inhaled irritants. It is marked by episodes of difficult breathing and hoarse metallic cough in infants and young children. Croup is caused by parainfluenza virus (types 1 and 2), Influenza A and B viruses, Measles virus, adenovirus, respiratory syncytial virus, Staphylococcus and Streptococcus.
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epiglottitis
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acute epiglottitis and supraglottitis; acute epigl..
[+]
acute epiglottitis and supraglottitis; acute epiglottitis
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An upper respiratory tract disease which involves .. [+]An upper respiratory tract disease which involves inflammation of the epiglottis due to infection. Haemophilus influenzae type B is the most common bacterial causative agent, although some cases are attributable to Streptococcus pneumoniae or Streptococcus pyogenes. The infection can cause the epiglottis to either obstruct or completely close off the windpipe. Epiglottitis typically affects children, and is associated with fever, difficulty in swallowing, drooling, hoarseness of voice, and stridor.
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steatotic liver disease
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alcoholic fatty liver; Fatty change of liver; Stea..
[+]
alcoholic fatty liver; Fatty change of liver; Steatosis of liver (disorder); hepatic lipidosis; Steatosis of liver; cryptogenic steatotic liver disease; fatty liver disease; hepatic steatosis; SLD
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A lipid storage disease characterized by the accum.. [+]A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.
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3 articles
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choanal atresia
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Atresia of nares; Imperforate nares; posterior cho..
[+]
Atresia of nares; Imperforate nares; posterior choanal atresia
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n_a
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ischemic fasciitis
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Atypical Decubital Fibroplasia
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n_a
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placental abruption
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abruptio placenta; abruptio placentae
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A placenta disease that is characterized by separa.. [+]A placenta disease that is characterized by separation of the placental lining from the uterus of the mother.
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neovascular inflammatory vitreoretinopathy
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autosomal dominant neovascular inflammatory vitreo..
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autosomal dominant neovascular inflammatory vitreoretinopathy; ADNIV; Retinitis proliferans; proliferative vitreoretinopathy
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A retinal and vitreous disease characterized by oc.. [+]A retinal and vitreous disease characterized by ocular inflammation, vascular dropout, large spots of hyperpigmentation, neovascularization of the peripheral and posterior retina, vitreous hemorrhage, and retinal detachment that has_material_basis_in heterozygous mutation in the CAPN5 gene on chromosome 11q13.5.
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1 articles
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blue drum syndrome
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acute mucoid otitis media
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A acute transudative otitis media involving thick,.. [+]A acute transudative otitis media involving thick, viscid and mucuslike fluid effusion due to which the drum appears blue in color.
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Goodpasture syndrome
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anti-GBM disease; anti-glomerular basement membran..
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anti-GBM disease; anti-glomerular basement membrane disease
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An autoimmune disease that is characterized by ant.. [+]An autoimmune disease that is characterized by antibody attack of the basement membrane in lungs and kidneys, leading to bleeding from the lungs and kidney failure.
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miliary tuberculosis
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acute miliary tuberculosis; Disseminated tuberculo..
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acute miliary tuberculosis; Disseminated tuberculosis (disorder); generalized tuberculosis; Tuberculosis miliaris disseminata (disorder); Disseminated tuberculosis; Tuberculosis miliaris disseminata
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An extrapulmonary tuberculosis that results in for.. [+]An extrapulmonary tuberculosis that results in formation of tiny lesions in all the organs.
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follicular mucinosis
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Alopecia mucinosa
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n_a
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peripartum cardiomyopathy
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antepartum peripartum cardiomyopathy; postpartum p..
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antepartum peripartum cardiomyopathy; postpartum peripartum cardiomyopathy
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A dilated cardiomyopathy that is characterized by .. [+]A dilated cardiomyopathy that is characterized by a weakness of the heart muscle that begins sometime during the final month of pregnancy through about five months after delivery.
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sleeping sickness
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African trypanosomiasis; African sleeping sickness..
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African trypanosomiasis; African sleeping sickness
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A trypanosomiasis that results from infection by T.. [+]A trypanosomiasis that results from infection by Trypanosoma brucei and gambiense, which is transmitted by the bite of an infected tsetse fly (Glossina spp). The symptoms include fever, headache, joint pain, itching, confusion, sensory disturbances, poor coordination and sleep disturbances.
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2 articles
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osteonecrosis
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Avascular necrosis of bone; aseptic necrosis; bone..
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aseptic necrosis; Avascular necrosis of bone; bone necrosis
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An ischemic bone disease that results_in necrosis .. [+]An ischemic bone disease that results_in necrosis located_in bone.
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dermatomyositis
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Amyopathic dermatomyositis; dermatopolymyositis; P..
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Amyopathic dermatomyositis; dermatopolymyositis; Polymyositis with skin involvement
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A myositis that results_in inflammation located_in.. [+]A myositis that results_in inflammation located_in muscle or located_in skin where a skin rash is often seen prior to the onset of muscle weakness. The disease may result from either a viral infection or an autoimmune reaction.
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1 articles
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epididymis adenocarcinoma
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adenocarcinoma of the epididymis
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An epididymis cancer that derives_from epithelial .. [+]An epididymis cancer that derives_from epithelial cells of glandular origin.
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refractive amblyopia
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ametropic amblyopia; Refractive amblyopia
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An amblyopia that is characterized by refractive e.. [+]An amblyopia that is characterized by refractive error in one or both eyes that is not corrected early in childhood resulting in poor development of the visual function in the affected eye(s).
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Klippel-Feil syndrome
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autosomal dominant Klippel-Feil syndrome; congenit..
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autosomal dominant Klippel-Feil syndrome; congenital synostosis of cervical vertebrae; congenital dystrophia brevicollis; Klippel-Feil and Turner syndrome; Klippel-Feil deformity, deafness and facial asymmetry
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A physical disorder that is characterized by abnor.. [+]A physical disorder that is characterized by abnormal segmentation of the vertebra during fetal development which results in fusion located in cervical vertebra.
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1 articles
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common cold
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acute Nasopharyngitis; acute nasopharyngitis; Acut..
[+]
acute nasopharyngitis; acute Nasopharyngitis; Acute viral rhinopharyngitis; acute rhinitis; acute nasopharyngitis [common cold]; acute coryza; rhino-sinusitis; Nasopharyngitis - acute; Nasopharyngitis, acute
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An upper respiratory tract disease which involves .. [+]An upper respiratory tract disease which involves inflammation of the mucous membranes of the nose, throat, eyes, and eustachian tubes with watery then purulent discharge. This is an acute contagious disease caused by rhinoviruses, human parainfluenza viruses, human respiratory syncytial virus, influenza viruses, adenoviruses, enteroviruses, or metapneumovirus.
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Hirschsprung's disease
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aganglionic megacolon; macrocolon; pelvirectal ach..
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aganglionic megacolon; macrocolon; pelvirectal achalasia; total intestinal aganglionosis; Hirschsprung disease; congenital megacolon
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A megacolon that is characterized by a blockage of.. [+]A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel.
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2 articles
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imperforate anus
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anal atresia; Congenital atresia of anus; Congenit..
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anal atresia; Congenital atresia of anus; Congenital or infantile occlusion of anus; Imperforate anus
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n_a
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beach ear
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acute swimmers' ear; acute bacterial inflammation ..
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acute swimmers' ear; acute bacterial inflammation of external ear; acute swimmer's ear; acute swimmer's ear (disorder); acute otitis externa, diffuse; acute bacterial inflammation of external ear (disorder); Tank ear
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An otitis externa which is a microbial infection t.. [+]An otitis externa which is a microbial infection that occurs suddenly, rapidly worsens, and becomes very painful and alarming. It is caused by swimming in polluted water, scratching the ear or inside the ear and object stuck in the ear. It is occasionally associated with middle ear infection or upper respiratory infections such as colds.
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supine hypotensive syndrome
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antepartum maternal hypotension syndrome; postpart..
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antepartum maternal hypotension syndrome; postpartum maternal hypotension syndrome
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A vascular disease that is characterized by severe.. [+]A vascular disease that is characterized by severe supine hypotension in late pregnancy, whose clinical presentation ranges from minimal cardiovascular alterations to severe shock, resulting from inferior vena cava compression by gravid uterus.
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metachromatic leukodystrophy
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arylsulfatase A deficiency; deficiency of cerebros..
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arylsulfatase A deficiency; deficiency of cerebroside-sulfatase; MLD; sulfatide lipoidosis; Scholz cerebral sclerosis
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A sphingolipidosis characterized by the accumulati.. [+]A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.
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Refsum disease
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adult Refsum disease; HMSN type IV; Refsum's disea..
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adult Refsum disease; HMSN type IV; Refsum's disease; Heredopathia atactica polyneuritiformis; HSMN IV; classic Refsum disease; phytanic acid oxidase deficiency
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A lipid metabolic disorder that is characterized b.. [+]A lipid metabolic disorder that is characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and accumulation of an unusual branched-chain fatty acid, phytanic acid, in blood and tissues.
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short bowel syndrome
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acquired short bowel syndrome; short gut syndrome; ..
[+]
acquired short bowel syndrome; short gut syndrome
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An intestinal disease that is characterized by a r.. [+]An intestinal disease that is characterized by a reduced ability to absorb nutrients due to the physical loss or the loss of function of a portion of the small and/or large intestine.
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rickets
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active rickets; vitamin D-dependent rickets; vitam..
[+]
active rickets; vitamin D-dependent rickets; vitamin D hydroxylation-deficient rickets
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A bone remodeling disease that has_material_basis_.. [+]A bone remodeling disease that has_material_basis_in impaired mineralization or calcification of bones before epiphyseal closure due to deficiency or impaired metabolism of vitamin D, phosphorus or calcium which results_in softening and deformity located_in bone.
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2 articles
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