| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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botulism
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Intoxication with Clostridium botulinum toxin; Inf..
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Intoxication with Clostridium botulinum toxin; Infection due to clostridium botulinum; Food poisoning due to Clostridium botulinum; Botulism poisoning; Foodborne botulism
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A primary bacterial infectious disease that involv.. [+]A primary bacterial infectious disease that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) located in neuromuscular junction resulting in descending muscle paralysis, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F.
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anterior ischemic optic neuropathy
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Ischemic optic neuropathy
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n_a
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pulmonary hemosiderosis
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Idiopathic pulmonary hemosiderosis; brown indurati..
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Idiopathic pulmonary hemosiderosis; brown induration; brown lung
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A lung disease with an unknown etiology affecting .. [+]A lung disease with an unknown etiology affecting the lungs which results in bleeding from tiny alveolar capillaries. Examination of sputum and bronchoalveolar lavage fluid can disclose hemosiderin-laden alveolar macrophages (siderophages), and the lung biopsy shows numerous siderophages in the alveoli. Alveolar hemorrhage is characterized by hemoptysis, shortness of breath, alveolar infiltrates on chest radiograph, and various degrees of anaemia. Following a bleeding episode, the alveolar macrophages convert the hemoglobin's iron into hemosiderin within 36-72h.
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Blessig's cysts
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Iwanoff's cysts; Blessig cysts; Microcystoid degen..
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Iwanoff's cysts; Blessig cysts; Microcystoid degeneration of retina; Microcystoid retinal degeneration
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n_a
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aniridia
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isolated aniridia; Aplasia of iris
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An iris disease that is characterized by a complet.. [+]An iris disease that is characterized by a complete or partial absence of the colored part of the eye.
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2 articles
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Bloch-Sulzberger syndrome
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Incontinentia pigmenti; Incontinentia pigmenti syn..
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Incontinentia pigmenti; Incontinentia pigmenti syndrome; Incontinentia pigmenti syndrome (disorder); Incontinentia pigmenti (disorder)
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n_a
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malaria
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induced malaria
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A parasitic protozoa infectious disease characteri.. [+]A parasitic protozoa infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle.
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10 articles
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dysentery
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Infectious diarrhea
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An intestinal infectious disease that involves inf.. [+]An intestinal infectious disease that involves inflammation of the intestines, especially colon, due to chemical irritants, bacteria, protozoa, or parasitic worms, which results in severe diarrhea with passage of mucus and blood.
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blastomycosis
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Infection by Blastomyces dermatitidis; Blastomyces..
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Infection by Blastomyces dermatitidis; Blastomyces Dermatitidis Infection; Chicago disease; North American blastomycosis; Gilchrist's disease; Blastomycotic infection
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A primary systemic mycosis that results_in a syste.. [+]A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Blastomyces dermatitidis, transmitted_by airborne spores and has_symptom skin lesions, has_symptom lung lesions and has_symptom pleural thickening.
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mucopolysaccharidosis I
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iduronidase deficiency disease; Hurler-Scheie synd..
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iduronidase deficiency disease; Hurler-Scheie syndrome; Lipochondrodystrophy; Mucopolysaccharidosis, MPS-I (disorder); Mucopolysaccharidosis, type 1; Hurler syndrome; MPS I - Hurler syndrome; Mucopolysaccharidosis, MPS-I
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A mucopolysaccharidosis characterized by a deficie.. [+]A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-L-iduronidase.
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senile entropion
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Involutional entropion
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n_a
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Guillain-Barre syndrome
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Infectious neuronitis; acute infective polyneuriti..
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Infectious neuronitis; acute infective polyneuritis; Postinfectious polyneuritis; acute inflammatory demyelinating polyradiculopathy; Post-infectious polyneuritis; acute postinfectious polyneuropathy
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An autoimmune disease of peripheral nervous system.. [+]An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system.
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autistic disorder
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infantile autism; autism; autistic disorder of chi..
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infantile autism; autism; autistic disorder of childhood onset; Kanner's syndrome; childhood autism
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An autism spectrum disorder that is characterized .. [+]An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years.
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3 articles
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Mikulicz disease
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IgG4-related dacryoadenitis and sialadenitis; Miku..
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IgG4-related dacryoadenitis and sialadenitis; Mikulicz's disease
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An autoimmune disease that is characterized by chr.. [+]An autoimmune disease that is characterized by chronic enlargement of the glands of the head and neck, has_symptom lumps of the face and neck, dry eyes, dry mouth, and intermittent fever, and is often associated with an underlying autoimmune disorder, hematologic malignancy, tuberculosis infection, or syphilis infection.
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dilated cardiomyopathy
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Idiopathic dilation cardiomyopathy; primary dilate..
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Idiopathic dilation cardiomyopathy; primary dilated cardiomyopathy; Congestive cardiomyopathy; Familial dilated cardiomyopathy
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An intrinsic cardiomyopathy that is characterized .. [+]An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.
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3 articles
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lobomycosis
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infection by Loboa loboi; Cutaneous lobomycosis (d..
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infection by Loboa loboi; Cutaneous lobomycosis (disorder); Cutaneous lobomycosis; Cutaneous blastomycosis
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A dermatomycosis that results in infection located.. [+]A dermatomycosis that results in infection located in skin or located in subcutaneous tissue, has_material_basis_in Lacazia loboi and has symptom crusty plaques, has symptom tumors and results in formation of nodular lesions.
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Sneddon syndrome
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Idiopathic livedo reticularis with systemic involv..
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Idiopathic livedo reticularis with systemic involvement; Idiopathic livedo reticularis with systemic involvement (disorder)
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An artery disease that is characterized by onset o.. [+]An artery disease that is characterized by onset of livedo reticularis in the second decade and onset of cerebrovascular disease in early adulthood and that has_material_basis_in compound heterozygous mutation in the CECR1 gene (ADA2) on chromosome 22q11.
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paronychia
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Infected nailfold; fungal nail infection; Onychia ..
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Infected nailfold; fungal nail infection; Onychia and paronychia of finger; Onychia and paronychia of toe; paronychia inflammation
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A nail disease characterized by often-tender bacte.. [+]A nail disease characterized by often-tender bacterial or fungal hand infection or foot infection due to either bacteria or fungus (Candida albicans) where the nail and skin meet at the side or the base of a finger or toe nail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia). Puss is usually present, along with gradual thickening and browning discoloration of the nail plate.
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Werdnig-Hoffmann disease
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infantile muscular atrophy; HMN (Hereditary motor ..
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infantile muscular atrophy; HMN (Hereditary motor Neuropathy) Proximal type I; Werdnig-Hoffman disease; hereditary motor neuropathy proximal type I; SMA1; Spinal muscular atrophy 1; progressive muscular atrophy of infancy
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A childhood spinal muscular atrophy that is a seve.. [+]A childhood spinal muscular atrophy that is a severe form and is characterized by muscle weakness onset from birth to six months of age, the inability to sit unassisted and that has_material_basis_in a mutation or deletion in the telomeric copy of the SMN gene, known as SMN1, on chromosome 5q13.
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endemic goiter
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Iodine-deficiency-related endemic goitre; simple g..
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Iodine-deficiency-related endemic goitre; simple goitre
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A nutritional deficiency disease characterized by .. [+]A nutritional deficiency disease characterized by noncancerous enlargement of the thyroid gland and has_material_basis_in iodine deficiency.
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hyperinsulinemic hypoglycemia
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Islet cell hyperplasia; persistent hyperinsulinemi..
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Islet cell hyperplasia; persistent hyperinsulinemia hypoglycemia of infancy; nesidioblastosis
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A carbohydrate metabolic disorder that involves lo.. [+]A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin.
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senile ectropion
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Involutional ectropion
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n_a
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megaloblastic anemia
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IGS; Imerslund-Grasbeck syndrome; Grasbeck-Imerslu..
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Imerslund-Grasbeck syndrome; IGS; Grasbeck-Imerslund syndrome; MGA1 Norwegian type; RH-MGA1; megaloblastic anaemia; recessive hereditary megaloblastic anaemia 1; recessive hereditary megaloblastic anemia 1
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A macrocytic anemia that is characterized by inhib.. [+]A macrocytic anemia that is characterized by inhibition of DNA synthesis during red blood cell production.
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glanders
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Infection due to Pseudomonas mallei; Farcy pipes
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A primary bacterial infectious disease that result.. [+]A primary bacterial infectious disease that results in septicemic infection, has_material_basis_in Burkholderia mallei, which is transmitted by contact with tissues or body fluids of infected animals, or through mucosal surfaces such as the eyes and nose. The infection has symptom fever, has symptom chills, has symptom sweating, has symptom muscle aches, has symptom chest pain, has symptom muscle tightness, has symptom headache, has symptom mucopurulent nasal discharge, and has symptom nodular lesions in the lungs.
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urethral intrinsic sphincter deficiency
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Intrinsic (urethral) sphincter deficiency [ISD]
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n_a
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aspergillosis
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Infection due to Aspergillus
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An opportunistic mycosis that involves a spectrum .. [+]An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney, heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system.
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female infertility of uterine origin
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Infertility, female, of uterine origin
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A uterine disease that is characterized by an inab.. [+]A uterine disease that is characterized by an inability to get pregnant despite having carefully timed, unprotected sex for one year.
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dental fluorosis
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Intrinsic enamel discolouration of fluorosis; Mott..
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Intrinsic enamel discolouration of fluorosis; Mottled teeth; Mottling of enamel
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A tooth disease characterized by enamel discolorat.. [+]A tooth disease characterized by enamel discoloration resulting from excess fluoride ingestion during tooth formation.
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uterine inflammatory disease
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Inflammatory disease of the uterus
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A uterine disease that is characterized by inflamm.. [+]A uterine disease that is characterized by inflammation.
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hepatic infarction
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infarct of liver
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n_a
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Pthirus pubis infestation
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Infestation by Phthirus pubis; Infestation by Phth..
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Infestation by Phthirus pubis; Infestation by Phthirus pubis (disorder); crabs; Pediculosis Pubis; Phthiriasis pubis; Phthirus pubis; Phthirus/pediculus pubis - pubic lice - crabs (& infestation); Phthirus pubis [pubic louse]; Pediculus pubis; Phthirus/pediculus pubis - pubic lice - crabs
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A lice infestation that involves parasitic infesta.. [+]A lice infestation that involves parasitic infestation by pubic lice Pthirus pubis, which are found in the pubic hair, less commonly in eyebrows, eyelashes, beard, mustache, armpit, perianal area, groin, trunk and scalp. The symptoms include itching in the pubic and groin area. Intense itching leads to scratching which can cause sores and secondary bacterial infection of the skin.
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opisthorchiasis
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Infection by Opisthorchis
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A parasitic helminthiasis infectious disease that .. [+]A parasitic helminthiasis infectious disease that involves parasitic infection of the liver, pancreas and gall bladder by Opisthorchis viverrini or Opisthorchis felineus. The symptoms include dyspepsia, abdominal pain, diarrhea, constipation, hepatomegaly, cholangitis, cholecystitis, and chlolangiocarcinoma.
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adhesions of uterus
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Intrauterine synechiae; Intrauterine adhesions; Ba..
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Intrauterine adhesions; Intrauterine synechiae; Band of uterus
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A uterine disease that is characterized by the pre.. [+]A uterine disease that is characterized by the presence of scar tissue which attaches the uterus to another structure.
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uterus interstitial leiomyoma
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Intramural leiomyoma of uterus (disorder); Intramu..
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Intramural leiomyoma of uterus (disorder); Intramural leiomyoma of uterus
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An uterine fibroid that is located within the myom.. [+]An uterine fibroid that is located within the myometrium.
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phaeohyphomycosis
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Infection by dematiacious fungi [Phaehyphomycosis]..
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Infection by dematiacious fungi [Phaehyphomycosis]; Infection by dematiacious fungi; phaehyphomycosis
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A primary systemic mycosis located_in subcutaneous.. [+]A primary systemic mycosis located_in subcutaneous tissues, located_in brain, located_in sinuses, located_in lungs, or located_in peritoneal cavity, has_material_basis_in Exophiala dermatitidis, has_material_basis_in Phialophora, has_material_basis_in Curvularia hawaiiensis, has_material_basis_in Exserohilum, has_material_basis_in Cladophialophora bantiana, has_material_basis_in Phaeoannellomyces, has_material_basis_in Aureobasidium, has_material_basis_in Cladosporium cladosporoides, has_material_basis_in Alternaria or has_material_basis_in Rhinocladiella mackenziei and results_in_formation_of subcutaneous abscesses arising at the site of minor trauma, and occur in both immunosuppressed and immunocompetent individuals.
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selective IgG deficiency disease
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Immunoglobin G subclass deficiency; Selective immu..
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Immunoglobin G subclass deficiency; Selective immunoglobulin G deficiency (disorder); Selective Immunoglobulin G Subclass deficiency; Selective IgG Immunodeficiency; Selective deficiency of IgG; Selective immunoglobulin G deficiency
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A dysgammaglobulinemia that is characterized by is.. [+]A dysgammaglobulinemia that is characterized by isolated deficiency of an IgG subclass, normal total IgG levels, and subsequent increased susceptibility to recurrent infections, atopic disease, and autoimmune conditions.
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gastrointestinal tularemia
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intestinal tularaemia; Enteric tularemia
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A tularemia that results in formation of ulcerativ.. [+]A tularemia that results in formation of ulcerative lesions located in gastrointestinal tract. The infection has symptom fever, has symptom chills, has symptom malaise, has symptom muscle aches, and has symptom vomiting.
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shoulder impingement syndrome
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Impingement syndrome of shoulder region; Impingeme..
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Impingement syndrome of shoulder region; Impingement syndrome of shoulder region (disorder); Shoulder impingement syndrome (disorder) [Ambiguous]; Subacromial impingement (disorder); Shoulder impingement syndrome; Subacromial impingement
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n_a
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suppurative thyroiditis
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Infectious thyroiditis; Infectious thyroiditis (di..
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Infectious thyroiditis; Infectious thyroiditis (disorder); acute suppurative thyroiditis (disorder); Suppurative thyroiditis; acute suppurative thyroiditis
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n_a
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dracunculiasis
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Infection by Dracunculus medinensis (disorder); In..
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Infection by Dracunculus medinensis (disorder); Infection by Dracunculus medinensis; Dracontiasis
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A parasitic helminthiasis infectious disease that .. [+]A parasitic helminthiasis infectious disease that involves parasitic infection by the larvae of the nematode Dracunculus medinensis, which are transmitted to humans by drinking water containing copepods infected with the larvae. The female, which contains larvae, burrows into the deeper connective tissues or adjacent to long bones or joints of the extremities. The worm emerges as a whitish filament in the center of a painful ulcer, accompanied by inflammation and frequently by secondary bacterial infection.
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dipetalonemiasis
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Infection by Dipetalonema; Infection by Dipetalone..
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Infection by Dipetalonema; Infection by Dipetalonema perstans (disorder) [Ambiguous]; Infection by Dipetalonema perstans (disorder); Infection by Dipetalonema perstans; Infection by Dipetalonema (disorder); dipetalonema infectious disease
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A filariasis that is a zoonotic infection caused b.. [+]A filariasis that is a zoonotic infection caused by the nematode of the genus Dipetalonema, which is transmitted accidentally to humans from porcupines, beavers and other mammals by mosquitoes. The adult worms live subcutaneously or in body cavities or in the eyes of humans. Dead worms cause hypersensitivity necrosis with eosinophils, followed by granulomatous reaction and fibrosis.
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primary pulmonary hypertension
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Idiopathic pulmonary arterial hypertension
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A chronic pulmonary heart disease characterized by.. [+]A chronic pulmonary heart disease characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, among others, has symptoms shortness of breath, dizziness, fainting, leg swelling.
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Hirata disease
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insulin autoimmune syndrome
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An autoimmune disease of endocrine system characte.. [+]An autoimmune disease of endocrine system characterized by hypoglycemia caused by antibodies to insulin.
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disease by infectious agent
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infectious disease
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A disease that is the consequence of the presence .. [+]A disease that is the consequence of the presence of pathogenic microbial agents, including pathogenic viruses, pathogenic bacteria, fungi, protozoa, multicellular parasites, and aberrant proteins known as prions.
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40 articles
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cryptogenic organizing pneumonia
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idiopathic bronchiolitis obliterans with organisin..
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idiopathic bronchiolitis obliterans with organising pneumonia; idiopathic bronchiolitis obliterans with organizing pneumonia; bronchiolitis obliterans organizing pneumonia; BOOP; bronchiolitis obliterans organising pneumonia; cryptogenic organising pneumonia; Cryptogenic organizing pneumonitis; Cryptogenic organising pneumonitis
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An idiopathic interstitial pneumonia characterized.. [+]An idiopathic interstitial pneumonia characterized by lung inflammation and scarring that obstructs the small airways and air sacs of the lungs (alveoli). A flu-like illness, with a cough, fever, a feeling of illness (malaise), fatigue, and weight loss, heralds the onset in about 50% of people. Frequent presence of crackling sounds (called Velcro crackles) when the doctor listens with a stethoscope.
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West syndrome
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Infantile spasms syndrome
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An infancy electroclinical syndrome that is charac.. [+]An infancy electroclinical syndrome that is characterized by infantile spasms, hypsarrhythmia on electroencephalogram and intellectual disability.
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1 articles
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taeniasis
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Infection by Taeniarhynchus saginatus; Beef tapewo..
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Infection by Taeniarhynchus saginatus; Beef tapeworm infection; Taenia saginata infectious disease
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A parasitic helminthiasis infectious disease that .. [+]A parasitic helminthiasis infectious disease that has_material_basis_in Taenia solium or has_material_basis_in Taenia saginata, which are transmitted by ingestion of undercooked contaminated meat.
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arterial calcification of infancy
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infantile arteriosclerosis; idiopathic infantile a..
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infantile arteriosclerosis; idiopathic infantile arterial calcification; generalized arterial calcification of infancy
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A vascular disease that is characterized by genera.. [+]A vascular disease that is characterized by generalized calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elasticity of the vessel wall.
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Borjeson-Forssman-Lehmann syndrome
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intellectual deficiency-epilepsy-endocrine disorde..
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intellectual deficiency-epilepsy-endocrine disorders syndrome; BORJ; Borjeson syndrome; mental retardation, epilepsy, and endocrine disorder; syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type; MRXSBFL; BFLS
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An X-linked disease that is characterized by intel.. [+]An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has_material_basis_in X-linked recessive inheritance of mutations in the PHF6 gene.
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small cell carcinoma
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intermediate cell small cell carcinoma; Small cell..
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intermediate cell small cell carcinoma; Small cell carcinoma - intermediate cell; Small cell carcinoma, intermediate cell (morphologic abnormality); Small cell carcinoma, intermediate cell
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A carcinoma that is an undifferentiated neoplasm c.. [+]A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells.
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