| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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holocarboxylase synthetase deficiency
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Multiple carboxylase deficiency - neonatal onset; ..
[+]
Multiple carboxylase deficiency - neonatal onset; Multiple carboxylase deficiency - neonatal onset (disorder); Biotin-(propionyl-CoA-carboxylase) ligase deficiency (disorder); Biotin-(propionyl-CoA-carboxylase) ligase deficiency
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A multiple carboxylase deficiency that involves a .. [+]A multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase.
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occipital lobe neoplasm
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malignant neoplasm of occipital lobe (disorder); m..
[+]
malignant neoplasm of occipital lobe (disorder); malignant neoplasm of occipital lobe; neoplasm of occipital lobe (disorder); tumor of Occipital Lobe; neoplasm of occipital lobe
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n_a
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borderline leprosy
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Midborderline leprosy; Midborderline leprosy (diso..
[+]
Midborderline leprosy; Midborderline leprosy (disorder); Borderline leprosy (disorder); Borderline leprosy [group B]; Borderline leprosy; Borderline or dimorphous leprosy
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A leprosy that results in small numerous red irreg.. [+]A leprosy that results in small numerous red irregularly shaped plaques.
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intellectual disability
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MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15; mental..
[+]
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15; mental retardation
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A specific developmental disorder that involves si.. [+]A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills.
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23 articles
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41 matches
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esophagus melanoma
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melanoma of esophagus; melanoma of oesophagus; oes..
[+]
melanoma of oesophagus; melanoma of esophagus; oesophagus melanoma
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n_a
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gingival recession
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moderate gingival recession; minimal gingival rece..
[+]
moderate gingival recession; minimal gingival recession; Gingival recession (disorder); Gingival recession NOS (disorder); Gingival recession, localized; Gingival recession, unspecified; localized gingival recession (disorder); severe gingival recession; Gingival recession; localized gingival recession
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n_a
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labia minora cancer
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malignant tumor of Labia Minora; malignant neoplas..
[+]
malignant tumor of Labia Minora; malignant neoplasm of labium minus; malignant neoplasm of labia minora (disorder); malignant neoplasm of labia minora
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A vulva cancer that is located_in the labium minor.. [+]A vulva cancer that is located_in the labium minora.
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vulva cancer
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malignant tumor of vulva; malignant neoplasm of vu..
[+]
malignant tumor of vulva; malignant neoplasm of vulva; malignant neoplasm of vulva unspecified; malignant Vulvar tumor; malignant tumor of vulva (disorder); malignant neoplasm of vulva, unspecified; malignant neoplasm of vulva, NOS; malignant neoplasm of vulva unspecified (disorder); Ca vulva; vulvar neoplasm; neoplasm of vulva (disorder); vulval cancer; vulval neoplasm; Vulvar tumor; neoplasm of vulva
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A female reproductive organ cancer that is located.. [+]A female reproductive organ cancer that is located_in the vulva.
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brain cancer
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malignant tumor of adult brain; malignant tumor of..
[+]
malignant tumor of adult brain; malignant tumor of Brain; malignant primary brain tumor; malignant primary brain neoplasm; malignant brain tumour; brain neoplasm; 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; adult brain tumor; BT - Brain tumour; neoplasm of brain; primary malignant neoplasm of brain; adult malignant brain neoplasm
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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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bronchus cancer
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malignant neoplasm of bronchus or lung; malignant ..
[+]
malignant neoplasm of bronchus or lung; malignant neoplasm of bronchus and lung; malignant neoplasm of bronchus or lung, unspecified (disorder); malignant neoplasm of bronchus or lung NOS (disorder); malignant neoplasm of bronchus and lung, unspecified
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A respiratory system cancer that is located_in the.. [+]A respiratory system cancer that is located_in the bronchus.
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frontal sinus cancer
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malignant tumor of frontal sinus; malignant tumor ..
[+]
malignant tumor of frontal sinus; malignant tumor of the Frontal sinus; malignant tumor of frontal sinus (disorder); malignant neoplasm of frontal sinus
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n_a
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ethmoid sinus cancer
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malignant tumor of ethmoid sinus; malignant tumor ..
[+]
malignant tumor of ethmoid sinus; malignant tumor of ethmoidal sinus; malignant tumor of ethmoid sinus (disorder); malignant neoplasm of ethmoidal sinus
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n_a
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endometrial cancer
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malignant endometrial neoplasm; malignant neoplasm..
[+]
malignant endometrial neoplasm; malignant neoplasm of endometrium; endometrial Ca; endometrial neoplasm; neoplasm of endometrium (disorder); primary malignant neoplasm of endometrium; tumor of Endometrium; neoplasm of endometrium
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A uterine cancer that is located_in tissues lining.. [+]A uterine cancer that is located_in tissues lining the uterus.
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1 articles
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abetalipoproteinemia
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microsomal triglyceride transfer protein deficienc..
[+]
microsomal triglyceride transfer protein deficiency disease; familial hypobetalipoproteinemia
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A hypolipoproteinemia that is characterized by an .. [+]A hypolipoproteinemia that is characterized by an inablility to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_material_basis_in an autosomal recessive disorder of lipid metabolism that has_material_basis_in mutation in the microsomal triglyceride transfer protein that catalyzes the transport of lipids and is required in the secretion of BETA-LIPOPROTEINS.
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1 articles
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cystic fibrosis
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mucoviscidosis; CF
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A syndrome that is characterized by the buildup of.. [+]A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.
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35 articles
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cecum cancer
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malignant tumor of the cecum; malignant neoplasm o..
[+]
malignant tumor of the cecum; malignant neoplasm of caecum
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A large intestine cancer that is located_in the ce.. [+]A large intestine cancer that is located_in the cecum.
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parathyroid carcinoma
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malignant tumor of parathyroid gland; malignant ne..
[+]
malignant tumor of parathyroid gland; malignant neoplasm of the Parathyroid; malignant tumor of parathyroid gland (disorder); malignant neoplasm of parathyroid gland; parathyroid gland cancer; carcinoma of Parathyroid gland; neoplasm of parathyroid gland; parathyroid gland adenocarcinoma; Parathyroid gland neoplasm; parathyroid neoplasm
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An endocrine gland cancer located_in the parathyro.. [+]An endocrine gland cancer located_in the parathyroid glands located in the neck.
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chromoblastomycosis
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Mossy foot disease (disorder); Mossy foot disease; ..
[+]
Mossy foot disease; Mossy foot disease (disorder); Chromomycosis
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A subcutaneous mycosis that is a chronic subcutane.. [+]A subcutaneous mycosis that is a chronic subcutaneous fungal infection, which presents as nodular or verrucoid, ulcerated, or crusted skin lesions on exposed areas of skin caused by Fonsecaea pedrosoi, Fonsecaea compacta, Cladophialophora carrionii or Phialophora verrucosa. Histological examination reveals muriform cells (with perpendicular septations) or thick walled, dark-colored, rounded forms (copper pennies) that are characteristic of this infection.
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fungal infectious disease
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mycosis; mycoses
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A disease by infectious agent that results_in infe.. [+]A disease by infectious agent that results_in infection, has_material_basis_in Fungi, which pass the resistance barriers of the human or animal body.
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depressive disorder
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mental depression; depression
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A mood disorder characterized by persistent sadnes.. [+]A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.
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7 articles
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breast cancer
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mammary neoplasm; mammary cancer; mammary tumor; m..
[+]
mammary tumor; mammary cancer; mammary neoplasm; malignant tumor of the breast; malignant neoplasm of breast; primary breast cancer; breast tumor
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A thoracic cancer that originates in the mammary g.. [+]A thoracic cancer that originates in the mammary gland.
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13 articles
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breast adenomyoepithelioma
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malignant adenomyoepithelioma of breast; adenomyoe..
[+]
malignant adenomyoepithelioma of breast; adenomyoepithelioma of the breast; breast Adenomyoepithelioma with malignant Change
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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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female breast upper-inner quadrant cancer
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malignant neoplasm of upper-inner quadrant of fema..
[+]
malignant neoplasm of upper-inner quadrant of female breast; malignant neoplasm of upper-inner quadrant of female breast (disorder)
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A female breast cancer that is located_in the uppe.. [+]A female breast cancer that is located_in the upper-inner quadrant of the breast.
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female breast lower-inner quadrant cancer
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malignant neoplasm of lower-inner quadrant of fema..
[+]
malignant neoplasm of lower-inner quadrant of female breast; malignant neoplasm of lower-inner quadrant of female breast (disorder)
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A female breast cancer that is located_in the lowe.. [+]A female breast cancer that is located_in the lower-inner quadrant of the breast.
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female breast axillary tail cancer
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malignant neoplasm of axillary tail of female brea..
[+]
malignant neoplasm of axillary tail of female breast; malignant neoplasm of axillary tail of female breast (disorder)
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A female breast cancer that is located_in the brea.. [+]A female breast cancer that is located_in the breast tissue extending into the axilla.
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supratentorial cancer
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malignant Supratentorial tumor; Brain neoplasm, Su..
[+]
malignant Supratentorial tumor; Brain neoplasm, Supratentorial
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A brain cancer that is located in the supratentori.. [+]A brain cancer that is located in the supratentorial region.
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1 articles
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8 matches
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squamous cell carcinoma
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malignant squamous cell tumor; epidermoid carcinom..
[+]
malignant squamous cell tumor; epidermoid carcinoma; squamous cell carcinoma (disorder); squamous cell carcinoma (morphologic abnormality); squamous cell carcinoma NOS (morphologic abnormality); squamous cell Epithelioma; squamous carcinoma; squamous cell cancer
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A carcinoma that derives_from squamous epithelial .. [+]A carcinoma that derives_from squamous epithelial cells.
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2 articles
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4 matches
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ocular melanoma
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melanoma of eye; eye melanoma; intraocular melanom..
[+]
melanoma of eye; eye melanoma; intraocular melanoma
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An ocular cancer that has_material_basis_in melano.. [+]An ocular cancer that has_material_basis_in melanocytes and is located_in the eye.
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factitious disorder
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Munchausen syndrome
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A disease of mental health where symptoms are deli.. [+]A disease of mental health where symptoms are deliberately produced, feigned or exaggerated in order to falsely demonstrate the presence of an illness.
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thyroid cancer
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malignant tumour of thyroid gland; malignant neopl..
[+]
malignant tumour of thyroid gland; malignant neoplasm of thyroid gland; neoplasm of thyroid gland; thyroid neoplasm; Thyroid gland neoplasm; thyroid gland cancer
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An endocrine gland cancer located in the thryoid g.. [+]An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage.
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2 articles
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pituitary cancer
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malignant tumor of pituitary gland; malignant tumo..
[+]
malignant tumor of pituitary gland; malignant tumor of pituitary gland (disorder); malignant Pituitary neoplasm; neoplasm of pituitary gland (disorder); Pituitary gland neoplasm; neoplasm of pituitary gland; pituitary neoplasm; pituitary gland cancer
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An endocrine gland cancer located_in the pituitary.. [+]An endocrine gland cancer located_in the pituitary gland located at the base of the brain.
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peritoneal mesothelioma
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malignant mesothelioma of peritoneum; Advanced mal..
[+]
malignant mesothelioma of peritoneum; Advanced malignant Mesothelioma of Peritoneum; advanced malignant peritoneal mesothelioma
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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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benign peritoneal mesothelioma
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Mesothelioma of Peritoneum
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n_a
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pancreatic cancer
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malignant neoplasm of head of pancreas; malignant ..
[+]
malignant neoplasm of head of pancreas; malignant neoplasm of body of pancreas; malignant neoplasm of tail of pancreas; Ca body of pancreas; Ca head of pancreas; Ca tail of pancreas; pancreas neoplasm; pancreatic neoplasm; pancreatic tumor
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An endocrine gland cancer located_in the pancreas.
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3 articles
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6 matches
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pancreatic endocrine carcinoma
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malignant neoplasm of islets of Langerhans; carcin..
[+]
malignant neoplasm of islets of Langerhans; carcinoma of endocrine pancreas (disorder); Islet cell carcinoma (morphologic abnormality); Islet cell carcinoma; pancreatic neuroendocrine carcinoma; carcinoma of endocrine pancreas
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An islet cell tumor that has_material_basis_in epi.. [+]An islet cell tumor that has_material_basis_in epithelial cells.
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islet cell tumor
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malignant tumor of endocrine pancreas; malignant t..
[+]
malignant tumor of endocrine pancreas; malignant tumour of endocrine pancreas; malignant pancreatic Endocrine tumour; malignant tumor of endocrine pancreas (disorder); malignant pancreatic Endocrine tumor; Islet cell neoplasm; Islet cell tumor; Islet cell tumour; endocrine pancreas cancer; islet cell tumour; pancreatic Endocrine neoplasm
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A pancreatic cancer that is located_in the pancrea.. [+]A pancreatic cancer that is located_in the pancreatic islet cells.
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fallopian tube cancer
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malignant tumor of fallopian tube; malignant tumor..
[+]
malignant tumor of fallopian tube; malignant tumor of fallopian tube (disorder); malignant tumour of fallopian tube; malignant neoplasm of uterine tube; neoplasm of fallopian tube (disorder); tumor of the fallopian tube; tumor, fallopian tube, malignant; neoplasm of fallopian tube; fallopian tube neoplasm
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A female reproductive organ cancer that is located.. [+]A female reproductive organ cancer that is located_in fallopian tube.
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adenosarcoma
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mullerian Adenosarcoma; Adenosarcoma (morphologic ..
[+]
mullerian Adenosarcoma; Adenosarcoma (morphologic abnormality); Adenosarcoma
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A carcinosarcoma that derives_from simultaneously .. [+]A carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium.
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rectum malignant melanoma
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melanoma of rectum; malignant melanoma of rectum; ..
[+]
malignant melanoma of rectum; melanoma of rectum; malignant melanoma of rectum (disorder)
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n_a
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rectum cancer
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malignant rectum tumor; malignant tumor of rectum; ..
[+]
malignant tumor of rectum; malignant rectum tumor; malignant neoplasm of rectum; malignant tumor of rectum (disorder); malignant Rectal tumor; cancer of rectum; carcinoma of rectum; carcinoma of the rectum; rectal cancer
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A colorectal cancer that is located_in the rectum.
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preretinal fibrosis
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Macular retinal puckering; Macular puckering of re..
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Macular retinal puckering; Macular puckering of retina; cellophane maculopathy
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n_a
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placenta cancer
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malignant neoplasm of placenta; malignant Placenta..
[+]
malignant neoplasm of placenta; malignant Placental tumor; neoplasm of placenta (disorder); placental cancer; primary malignant neoplasm of placenta; Placental tumors; neoplasm of placenta
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A female reproductive organ cancer that is located.. [+]A female reproductive organ cancer that is located_in the placenta.
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gestational choriocarcinoma
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Molar pregnancy with choriocarcinoma; Molar pregna..
[+]
Molar pregnancy with choriocarcinoma; Molar pregnancy with choriocarcinoma (disorder); Gestational choriocarcinoma (morphologic abnormality); Gestational chorionepithelioma; Gestational choriocarcinoma
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A choriocarcicoma that develops in the presence of.. [+]A choriocarcicoma that develops in the presence of a preceding gestational event.
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eccrine mixed tumor of skin
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mixed Eccrine neoplasm of the skin; Eccrine mixed ..
[+]
mixed Eccrine neoplasm of the skin; Eccrine mixed tumor (disorder); Eccrine mixed tumor (morphologic abnormality); eccrine mixed tumour of skin; Eccrine mixed tumor; Eccrine mixed tumour
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n_a
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vulvar melanoma
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malignant melanoma of vulva; malignant melanoma of..
[+]
malignant melanoma of vulva; malignant melanoma of vulva (disorder)
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A vulva cancer that has_material_basis_in melanocy.. [+]A vulva cancer that has_material_basis_in melanocytes.
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sweat gland cancer
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malignant tumor of the Sweat gland; malignant neop..
[+]
malignant tumor of the Sweat gland; malignant neoplasm of sweat gland
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n_a
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temporal lobe neoplasm
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malignant neoplasm of temporal lobe; malignant neo..
[+]
malignant neoplasm of temporal lobe; malignant neoplasm of temporal lobe NOS (disorder); malignant neoplasm of temporal lobe (disorder); neoplasm of temporal lobe (disorder); neoplasm of temporal lobe; tumor of Temporal Lobe
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n_a
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ocular cancer
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malignant eye neoplasm; eye neoplasm; neoplasm of ..
[+]
malignant eye neoplasm; eye neoplasm; neoplasm of eye; Ocular tumor; neoplasm of eye proper
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A sensory system cancer located_in the eye that is.. [+]A sensory system cancer located_in the eye that is characterized by uncontrolled cellular proliferation in the eye.
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7 articles
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25 matches
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vulvovaginal candidiasis
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Monilial vulvovaginitis; Candidal vulvovaginitis; ..
[+]
Monilial vulvovaginitis; Candidal vulvovaginitis; Candidal vulvovaginitis (disorder); Candidal vulvovaginitis NOS (disorder); Candidiasis of vulva and vagina; Vulvovaginal Candidiasis; Candidal: [vulvovaginitis NOS] or [cervix]; Candidal: cervix; Candidal cervix
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A candidiasis that involves fungal infection of th.. [+]A candidiasis that involves fungal infection of the vaginal mucous membranes in women caused by Candida albicans. The symptoms include intense vulval pruritus, burning, erythema and dyspareunia associated with a creamy white, curd-like discharge.
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gangliosidosis
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mucolipidosis type IV
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A sphingolipidosis that is characterized by the ac.. [+]A sphingolipidosis that is characterized by the accumulation of lipids known as gangliosides.
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