| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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uterine corpus adenofibroma
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adenofibroma of uterine corpus; adenofibroma of Co..
[+]
adenofibroma of uterine corpus; adenofibroma of Corpus Uteri
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An uterine benign neoplasm that has_material_basis.. [+]An uterine benign neoplasm that has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands.
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malignant acrospiroma
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anaplastic syringoma; Eccrine ductal carcinoma (mo..
[+]
anaplastic syringoma; Eccrine ductal carcinoma (morphologic abnormality); Eccrine ductal carcinoma of skin; malignant Acrospiroma
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n_a
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T-cell adult acute lymphocytic leukemia
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adult Precursor T Lymphoblastic Leukemia
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n_a
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thymus adenosquamous carcinoma
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Adenosquamous carcinoma of the Thymus
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A thymic carcinoma that derives_from squamous cell.. [+]A thymic carcinoma that derives_from squamous cells and gland-like cells.
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endometrial adenosquamous carcinoma
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Adenosquamous carcinoma of Endometrium
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An endometrial carcinoma that derives_from squamou.. [+]An endometrial carcinoma that derives_from squamous cells and gland-like cells.
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gastric adenosquamous carcinoma
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Adenosquamous carcinoma of stomach
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n_a
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cervical adenosquamous carcinoma
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Adenosquamous cell carcinoma of the Cervix Uteri; ..
[+]
Adenosquamous cell carcinoma of the Cervix Uteri; Adenosquamous carcinoma of cervix (disorder)
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A cervical carcinoma that derives_from squamous ce.. [+]A cervical carcinoma that derives_from squamous cells and gland-like cells.
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Werner syndrome
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adult premature ageing syndrome; adult progeria; W..
[+]
adult progeria; adult premature ageing syndrome; Werner's syndrome; WS
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An autosomal recessive disease characterized by pr.. [+]An autosomal recessive disease characterized by premature aging and age-related phenotypes such as atherosclerosis, arteriosclerosis, cataracts, osteoporosis, soft tissue calcification, premature thinning, graying, and loss of hair, as well as a high incidence of some types of cancers. In 90% of the cases it is that has material basis in mutations in the WRN gene, on chromosome 8.
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well-differentiated liposarcoma
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atypical lipomatous tumor
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A liposarcoma that is characterized as a slow grow.. [+]A liposarcoma that is characterized as a slow growing, painless tumor usually located in the retroperitoneum or the limbs and derives_from proliferating mature adipocytes.
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optic atrophy
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atrophy of optic disc
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An optic nerve disease that is characterized the d.. [+]An optic nerve disease that is characterized the death of the retinal ganglion cell axons that comprise the optic nerve.
[-]
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Nager acrofacial dysostosis
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acrofacial dysostosis 1, Nager type; AFD; Nager sy..
[+]
AFD; acrofacial dysostosis 1, Nager type; Nager syndrome; preaxial acrofacial dysostosis; preaxial manibulofacial dysostosis
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An acrofacial dysostosis characterized by underdev.. [+]An acrofacial dysostosis characterized by underdeveloped cheek bones, very small lower jaw, cleft palate, defects in the middle ear, absent eyelashes, and a notch in the lower eyelids called a coloboma, in children.
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microglandular adenosis
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Adenosis of the breast; Adenosis - breast
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A breast disease that is characterized by a haphaz.. [+]A breast disease that is characterized by a haphazard infiltration of small, uniformly open, and round glands which are lined by a monolayer of flat to cuboidal epithelial cells that lack a myoepithelial layer, the absence of stromal desmoplasia and the presence of a thickened basement membrane.
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gliomatosis cerebri
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Astrocytosis cerebri; Gliomatosis cerebri (morphol..
[+]
Astrocytosis cerebri; Gliomatosis cerebri (morphologic abnormality)
[-]
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n_a
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bronchitis
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acute bronchitis and bronchiolitis; acute Bronchit..
[+]
acute bronchitis and bronchiolitis; acute Bronchitis; chest cold; Chest infection; chronic bronchitis; CI - Chest infection; recurrent wheezy bronchitis
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A bronchial disease that is an inflammation of the.. [+]A bronchial disease that is an inflammation of the bronchial tubes. It is caused by bacteria and viruses. The disease has_symptom cough with mucus, has_symptom shortness of breath, has_symptom low fever and has_symptom chest tightness.
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gastric diffuse adenocarcinoma
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adenocarcinoma of Linitis Plastica type; carcinoma..
[+]
adenocarcinoma of Linitis Plastica type; carcinoma, diffuse type (morphologic abnormality); Diffuse type adenocarcinoma; diffuse type carcinoma
[-]
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n_a
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gastric cardia adenocarcinoma
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adenocarcinoma of gastric cardia; adenocarcinoma o..
[+]
adenocarcinoma of gastric cardia; adenocarcinoma of Cardia of stomach
[-]
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n_a
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Bartholin's gland adenocarcinoma
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adenocarcinoma of the Bartholin's gland; adenocarc..
[+]
adenocarcinoma of the Bartholin's gland; adenocarcinoma of bartholin's gland; Bartholin gland adenocarcinoma
[-]
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n_a
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lung acinar adenocarcinoma
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acinar adenocarcinoma of the lung
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n_a
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breast apocrine carcinoma
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apocrine carcinoma of breast; breast Apocrine carc..
[+]
apocrine carcinoma of breast; breast Apocrine carcinoma
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A breast adenocarcinoma that is characterized by a.. [+]A breast adenocarcinoma that is characterized by abundant eosinophilic cytoplasm, large round nuclei and sharp cell borders.
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diffuse idiopathic skeletal hyperostosis
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Ankylosing vertebral hyperostosis; DISH; Dissemina..
[+]
Ankylosing vertebral hyperostosis; DISH; Disseminated idiopathic skeletal hyperostosis; Forestier disease
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A calcinosis that is the calcification or a bony h.. [+]A calcinosis that is the calcification or a bony hardening of ligaments in areas where they attach to your spine.
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Froelich syndrome
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adiposogenital syndrome; Babinski-Froelich syndrom..
[+]
adiposogenital syndrome; Babinski-Froelich syndrome; Froehlich syndrome; Froehlich's syndrome; Froelich's syndrome
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A hypothalamic disease that is characterized by en.. [+]A hypothalamic disease that is characterized by endocrine dysfunction of the hypothalamic gland resulting in delayed puberty, small testes, and obesity.
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X-linked Aarskog syndrome
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Aarskog-Scott syndrome; faciogenital dysplasia; Gr..
[+]
Aarskog-Scott syndrome; faciogenital dysplasia; Greig's syndrome
[-]
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A syndromic X-linked intellectual disability affec.. [+]A syndromic X-linked intellectual disability affects a person's height, muscles, skeleton, genitals, and appearance of the face.
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pineal region immature teratoma
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Atypical Pineal teratoma
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n_a
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bronchial mucus gland adenoma
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adenoma of the Bronchial Mucus gland; adenoma of b..
[+]
adenoma of the Bronchial Mucus gland; adenoma of bronchial mucus gland
[-]
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n_a
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rheumatoid arthritis
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atrophic Arthritis; Arthritis or polyarthritis, rh..
[+]
atrophic Arthritis; Arthritis or polyarthritis, rheumatic
[-]
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An arthritis that is an autoimmune disease which a.. [+]An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.
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maxillary sinus adenoid cystic carcinoma
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adenoid cystic carcinoma of the maxillary sinus; a..
[+]
adenoid cystic carcinoma of the maxillary sinus; adenoid cystic carcinoma of maxillary sinus
[-]
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n_a
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parathyroid adenoma
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adenoma of the Parathyroid gland; adenoma of parat..
[+]
adenoma of the Parathyroid gland; adenoma of parathyroid
[-]
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n_a
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maxillary sinus adenocarcinoma
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adenocarcinoma of the maxillary sinus; adenocarcin..
[+]
adenocarcinoma of the maxillary sinus; adenocarcinoma of maxillary sinus
[-]
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n_a
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Barrett's adenocarcinoma
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adenocarcinoma Arising in Barrett's Mucosa; Barret..
[+]
adenocarcinoma Arising in Barrett's Mucosa; Barrett adenocarcinoma
[-]
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n_a
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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
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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..
[+]
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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n_a
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rheumatic myocarditis
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acute rheumatic myocarditis (disorder) [Ambiguous]..
[+]
acute rheumatic myocarditis (disorder) [Ambiguous]; acute rheumatic myocarditis (disorder); acute rheumatic myocarditis; acute Rheumatic Myocarditis; acute rheumatic carditis; active rheumatic fever with myocarditis; Rheumatic degeneration of myocardium; Rheumatic fever with myocarditis; Rheumatic myocarditis; Rheumatic myocarditis (disorder); Rheumatoid myocarditis (disorder)
[-]
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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 disease; maple bark stripper's disease; maple bark stripper's lung; Maple bark-strippers' lung; Maple-bark strippers' lung (disorder); Maple-bark strippers' lung
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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; Gastroesophageal reflux disease; GERD; GERD - Gastro-esophageal reflux disease
[-]
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n_a
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malignant hyperthermia
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anesthesia related hyperthermia; malignant hyperpy..
[+]
anesthesia related hyperthermia; malignant hyperpyrexia due to anesthesia
[-]
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A genetic disease that is characterized by a drast.. [+]A genetic 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.
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Kaposi's sarcoma
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anal Kaposi's sarcoma; African lymphadenopathic Ka..
[+]
anal Kaposi's sarcoma; African lymphadenopathic Kaposi's sarcoma; cardiac Kaposi's sarcoma; central nervous system Kaposi's sarcoma; Conjunctival Kaposi's sarcoma; conjunctival Kaposi's sarcoma; Corneal Kaposi's sarcoma; corneal Kaposi's sarcoma; Cutaneous Kaposi's sarcoma; cutaneous Kaposi's sarcoma; esophageal Kaposi's sarcoma; gallbladder Kaposi's sarcoma; gastric Kaposi's sarcoma; intestinal Kaposi's sarcoma; Kaposi sarcoma; Kaposi's sarcoma of anus; Kaposi's sarcoma of central nervous system; Kaposi's sarcoma of conjunctiva (disorder); Kaposi's sarcoma of cornea (disorder); Kaposi's sarcoma of esophagus; 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 lymph nodes (disorder); Kaposi's sarcoma of palate (disorder); Kaposi's sarcoma of penis; Kaposi's sarcoma of skin; 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 CNS; Kaposi's sarcoma of the gallbladder; Kaposi's sarcoma of the prostate; Kaposi's sarcoma, lung; Kaposi's sarcoma, skin; Kaposi's sarcoma-associated herpesvirus (KSHV); lymph node Kaposi's sarcoma; lymphadenopathic Kaposi's sarcoma; Palate Kaposi's sarcoma; palate Kaposi's sarcoma; penis Kaposi's sarcoma; prostate Kaposi's sarcoma; pulmonary Kaposi's sarcoma; soft tissue Kaposi's sarcoma; Kaposi's sarcoma of conjunctiva; Kaposi's sarcoma of cornea; Kaposi's sarcoma of lung; Kaposi's sarcoma of palate; Kaposi's sarcoma of soft tissue; 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; central Neurofibromato..
[+]
Acoustic neurofibromatosis; central Neurofibromatosis; Neurofibromatosis 1; neurofibromatosis type 1; neurofibromatosis type 2; neurofibromatosis type 4; neurofibromatosis type IV; peripheral Neurofibromatosis; Recklinghausen's neurofibromatosis; type IV neurofibromatosis of riccardi; von Reklinghausen disease
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n_a
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megakaryocytic leukemia
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acute Megakaryocytic Leukemias; acute megakaryobla..
[+]
acute Megakaryocytic Leukemias; acute megakaryoblastic leukemia, FAB M7 (disorder); acute Megakaryoblastic Leukemia (FAB type M7); acute megakaryoblastic leukaemia, FAB M7; Megakaryocytic myelosis; Thrombocytic leukaemia
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A leukemia that derives_from blood-forming tissue .. [+]A leukemia that derives_from blood-forming tissue in which megakaryocytes proliferate in the bone marrow and circulate in the blood in large numbers.
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intermediate coronary syndrome
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Angina at rest; Anginal chest pain at rest; (Angin..
[+]
Anginal chest pain at rest; Angina at rest; (Angina: [crescendo] or [unstable] or [at rest]) or (preinfarction syndrome) or (impending infarction); Impending infarction (disorder); Preinfarction angina; Preinfarction angina (disorder); Unstable angina; Worsening 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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sideroblastic anemia
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Anemia, hypochromic with iron loading; ANEMIA SIDE..
[+]
Anemia, hypochromic with iron loading; ANEMIA SIDEROBLASTIC
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An aplastic anemia where the bone marrow produces .. [+]An aplastic 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..
[+]
arthropathic psoriasis; arthritis psoriatica; psoriatic arthropathy
[-]
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A syndrome that occurs in humans with psoriasis wh.. [+]A syndrome that occurs in humans with psoriasis who also experience symptoms similar to arthritis.
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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; milkpox; Variola minor; white..
[+]
Alastrim; cottonpox; milkpox; Variola minor; whitepox
[-]
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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 mucocutaneous leishmaniasis (disorder); A..
[+]
American mucocutaneous leishmaniasis (disorder); American mucocutaneous leishmaniasis; American cutaneous leishmaniasis; American Cutaneous Leishmaniasis; Cutaneous leishmaniasis, American; Mucocutaneous leishmaniasis, (American); Mucocutaneous leishmaniasis, American; New World cutaneous 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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citrullinemia
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ASS deficiency; deficiency of citrulline-aspartate..
[+]
ASS deficiency; deficiency of citrulline-aspartate ligase
[-]
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An urea cycle disorder that involves the accumulat.. [+]An urea cycle disorder that involves the accumulation of ammonia in the blood.
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hyperargininemia
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argininemia; Arginase deficiency; Arginase deficie..
[+]
Arginase deficiency; argininemia; 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..
[+]
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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