| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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hyperlipoproteinemia type III
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carbohydrate induced hyperlipemia; familial type 3..
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carbohydrate induced hyperlipemia; familial type 3 hyperlipoproteinemia (disorder); Remnant hyperlipidemia; familial hypercholesterolaemia with hyperlipaemia; familial type 3 hyperlipoproteinemia
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A familial hyperlipidemia that has_material_basis_.. [+]A familial hyperlipidemia that has_material_basis_in by homozygous, compound heterozygous, or heterozygous mutation in the APOE gene on chromosome 19q13.
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skin papilloma
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cutaneous papilloma; Cutaneous papilloma; papillom..
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Cutaneous papilloma; cutaneous papilloma; papilloma of skin; papilloma of skin (disorder); skin papilloma NOS
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A skin benign neoplasm that is composed of epithel.. [+]A skin benign neoplasm that is composed of epithelial cells and a fibrous stalk.
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junctional epidermolysis bullosa
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congenital junctional epidermolysis bullosa; conge..
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congenital junctional epidermolysis bullosa; congenital junctional epidermolysis bullosa (disorder)
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An epidermolysis bullosa that is characterized by .. [+]An epidermolysis bullosa that is characterized by recurrent blistering located in the lamina lucida of the basement membrane secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in genes related to laminin 332, which strengthens the skin.
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aspiration pneumonitis
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Chemical pneumonitis; Mendelson's Syndrome
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A pneumonia that is defined as an acute lung injur.. [+]A pneumonia that is defined as an acute lung injury after the inhalation of foreign material such as regurgitated acidic gastric contents, petroleum products and laxative oils. This syndrome occurs in patients who have a marked disturbance of consciousness such as that resulting from a drug overdose, seizures, a massive cerebrovascular accident, or the use of anesthesia. Aspiration of gastric contents results in a chemical burn of the tracheobronchial tree and pulmonary parenchyma, causing an intense parenchymal inflammatory reaction. The disease has_symptom non-productive cough, has_symptom tachypnea, has_symptom bronchospasm, has_symptom bloody sputum, has_symptom frothy sputum, or has_symptom respiratory distress, 2-5 hrs after aspiration.
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ovarian cystadenoma
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Cystoma Serosum simplex; simple cystoma of ovary; ..
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Cystoma Serosum simplex; simple cystoma of ovary; simple cystoma of the ovary (disorder); simple cystoma of the ovary
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An ovarian benign neoplasm that has_material_basis.. [+]An ovarian benign neoplasm that has_material_basis_in glandular epithelial tissue in which cystic accumulations of retained secretions are formed.
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histiocytosis
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chronic Histiocytosis X; Hand Schuller Christian d..
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chronic Histiocytosis X; Hand Schuller Christian disease
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A lymphatic system disease that is characterized b.. [+]A lymphatic system disease that is characterized by an excessive number of histiocytes.
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scrotal carcinoma
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carcinoma of scrotum
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n_a
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penis carcinoma
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carcinoma of penis (disorder); carcinoma of penis; ..
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carcinoma of penis; carcinoma of penis (disorder); Penile carcinoma
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A penile cancer that is located_in the skin or tis.. [+]A penile cancer that is located_in the skin or tissues of the penis.
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skin carcinoma
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carcinoma of skin
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A skin cancer that is located_in tissues of the sk.. [+]A skin cancer that is located_in tissues of the skin and develops from epithelial cells.
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1 articles
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3 matches
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breast carcinoma
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carcinoma of breast; Mammary carcinoma
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A breast cancer that has_material_basis_in abnorma.. [+]A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
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2 articles
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mixed connective tissue disease
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Connective tissue disease overlap syndrome; Connec..
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Connective tissue disease overlap syndrome; Connective tissue disease overlap syndrome (disorder); mixed collagen vascular disease (disorder); mixed collagen vascular disease
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A collagen disease that is considered an overlap o.. [+]A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen.
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liver cancer
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Ca liver - primary (disorder); Ca liver - primary; ..
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Ca liver - primary; Ca liver - primary (disorder); ca liver - primary; hepatic cancer; hepatic neoplasm; malignant hepato-biliary neoplasm; malignant neoplasm of liver (disorder); malignant neoplasm of liver unspecified (disorder); malignant neoplasm of liver, primary; malignant tumor of liver (disorder); non-resectable primary hepatic malignant neoplasm; primary liver cancer; primary malignant neoplasm of liver; primary malignant neoplasm of liver NOS (disorder); malignant neoplasm of liver; neoplasm of liver (disorder); primary malignant neoplasm of liver (disorder); malignant tumor of liver; resectable malignant neoplasm of the liver; malignant neoplasm of liver, not specified as primary or secondary; Resectable malignant neoplasm of Liver; primary malignant neoplasm of Liver; neoplasm of liver
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A hepatobiliary system cancer that is located_in t.. [+]A hepatobiliary system cancer that is located_in the liver.
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2 articles
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ovarian cystadenocarcinoma
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cystadenocarcinoma of ovary; cystadenocarcinoma of..
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cystadenocarcinoma of ovary; cystadenocarcinoma of the Ovary; cystadenocarcinoma of ovary (disorder)
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An ovary adenocarcinoma that is characterized by t.. [+]An ovary adenocarcinoma that is characterized by the presence of cysts or cystic spaces.
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appendix mucinous cystadenocarcinoma
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Colloidal cystadenocarcinoma of the appendix
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n_a
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solitary mastocytoma of the skin
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cutaneous solitary mastocytoma; Solitary mastocyto..
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cutaneous solitary mastocytoma; Solitary mastocytoma; Solitary Mastocytoma of skin
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A mast cell neoplasm that is characterized by coll.. [+]A mast cell neoplasm that is characterized by collections of mast cells with a single or multiple (usually five or fewer individual) orange-brown to red-brown plaques or nodules ranging from 0.5 to 3.5 cm in diameter.
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intermittent claudication
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Charcot's syndrome; Intermittent claudication; Int..
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Charcot's syndrome; Intermittent claudication; Intermittent claudication (disorder); Intermittent claudication NOS
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n_a
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rectum mucinous adenocarcinoma
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Colloidal adenocarcinoma of rectum
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A rectal adenocarcinoma that produces mucin.
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toxicodendron dermatitis
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Contact dermatitis due to Genus Toxicodendron; Rhu..
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Contact dermatitis due to Genus Toxicodendron; Rhus dermatitis
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An allergic contact dermatitis that has_allergic_t.. [+]An allergic contact dermatitis that has_allergic_trigger members of the toxicodendron family, including urushiol producing poison ivy, poison oak, and poison sumac, has_symptom pruritic erythematous rash with papules, vesicles, and plaques, and has_material_basis_in a type IV hypersensitivity reaction.
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adamantinous craniopharyngioma
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craniopharyngioma, adamantinomatous; Adamantinous ..
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craniopharyngioma, adamantinomatous; Adamantinous Rathke's Pouch tumor; Adamantinous craniopharyngioma (morphologic abnormality); Adamantinous craniopharyngioma
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n_a
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papillary craniopharyngioma
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craniopharyngioma, papillary; craniopharyngioma, p..
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craniopharyngioma, papillary; craniopharyngioma, papillary (morphologic abnormality); Papillary craniopharyngioma (morphologic abnormality); Papillary Rathke's Pouch tumor; Papillary craniopharyngioma
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n_a
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Peutz-Jeghers syndrome
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Colonic hamartomatous polyp; gastric Peutz-Jeghers..
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Colonic hamartomatous polyp; gastric Peutz-Jeghers polyp; Peutz Jeghers colon polyp; Peutz Jeghers polyp; Peutz-Jeghers polyp of small Intestine; peutz-jeghers small bowel hamartoma
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An intestinal disease characterized by melanocytic.. [+]An intestinal disease characterized by melanocytic macules of the lips, buccal mucosa, and digits; multiple gastrointestinal hamartomatous polyps; and an increased risk of various neoplasms that has_material_basis_in heterozygous mutation in the serine/threonine kinase STK11 gene on chromosome 19p13.
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Lynch syndrome
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COCA 1; Hereditary Defective Mismatch Repair syndr..
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COCA 1; Hereditary Defective Mismatch Repair syndrome; hereditary nonpolyposis colorectal cancer; HNPCC - hereditary nonpolyposis colon cancer; hereditary non-polyposis colon cancer type 1; hereditary nonpolyposis colorectal neoplasm; Hereditary non-polyposis colon cancer; Hereditary non-polyposis colon cancer syndrome; Hereditary non-polyposis colorectal cancer; Hereditary non-polyposis colorectal cancer syndrome; Hereditary nonpolyposis colon cancer; Hereditary nonpolyposis colon cancer syndrome; Hereditary nonpolyposis colorectal cancer syndrome
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A syndrome that is characterized by an increased r.. [+]A syndrome that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers.
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lung carcinoma
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carcinoma of lung; cancer of lung
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A lung cancer that has_material_basis_in abnormall.. [+]A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis.
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2 articles
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main bronchus cancer
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Ca main bronchus; malignant neoplasm of main bronc..
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Ca main bronchus; malignant neoplasm of main bronchus
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n_a
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adrenocortical carcinoma
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carcinoma of the Adrenal cortex; Adrenal cortical ..
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carcinoma of the Adrenal cortex; Adrenal cortical carcinoma (morphologic abnormality); Adrenal cortical carcinoma
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An adrenal cortex cancer that forms in the outer l.. [+]An adrenal cortex cancer that forms in the outer layer of tissue of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
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1 articles
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adrenal carcinoma
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carcinoma of the Adrenal gland
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An adrenal cancer that is located_in the cortex (s.. [+]An adrenal cancer that is located_in the cortex (steroid hormone-producing tissue) of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
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Bartholin's gland carcinoma
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carcinoma of Bartholin's gland; Bartholin gland ca..
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carcinoma of Bartholin's gland; Bartholin gland carcinoma; Bartholin's gland cancer
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A vulva carcinoma that has_material_basis_in abnor.. [+]A vulva carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in Bartholin's gland.
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Schneiderian carcinoma
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Cylindrical cell carcinoma
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n_a
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bladder carcinoma
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carcinoma of bladder; carcinoma of urinary bladder..
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carcinoma of bladder; carcinoma of urinary bladder; carcinoma of bladder (disorder); carcinoma OF BLADDER; carcinoma bladder
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A urinary bladder cancer that has_material_basis_i.. [+]A urinary bladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
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pancreatic cystadenocarcinoma
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cystadenocarcinoma of pancreas; cystadenocarcinoma..
[+]
cystadenocarcinoma of pancreas; cystadenocarcinoma of pancreas (disorder)
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n_a
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skull base chordoma
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Chordoma of the Skull Base
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A chordoma that is located_in the skull base.
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spinal chordoma
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Chordoma of Spine
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A chordoma that derives_from the spine.
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skin cancer
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CA - skin cancer; cancer of skin; melanoma and Non..
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cancer of skin; CA - skin cancer; melanoma and Non-melanoma skin cancer; malignant neoplasm of skin
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An integumentary system cancer located_in the skin.. [+]An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells.
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3 articles
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7 matches
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intracranial thrombosis
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cerebral thrombosis
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n_a
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alveolar soft part sarcoma
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childhood alveolar soft part sarcoma; adult alveol..
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childhood alveolar soft part sarcoma; adult alveolar soft part sarcoma; Alveolar Soft Part sarcoma; pediatric Alveolar soft Part sarcoma
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A soft tissue cancer that is a slow growing tumor .. [+]A soft tissue cancer that is a slow growing tumor of an unknown origin that effects children and effects young adults.
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akinetic mutism
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Coma vigilans; Coma vigilans (finding)
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A brain disease characterized by marked reduction .. [+]A brain disease characterized by marked reduction of nearly all motor functions including facial expressions, gestures and speech output, but with some degree of alertness.
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nodular basal cell carcinoma
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Circumscribed solid basal cell carcinoma; Basal ce..
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Circumscribed solid basal cell carcinoma; Basal cell carcinoma, nodular (morphologic abnormality); skin nodulo-ulcerative basal cell carcinoma; skin solid (nodular) Basal cell carcinoma; Basal cell carcinoma, nodular
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A basal cell carcinoma characterized by elevated, .. [+]A basal cell carcinoma characterized by elevated, pearl shaped nodules with telengactisae on the surface and periphery.
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anal margin carcinoma
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carcinoma of anal margin; Perianal skin carcinoma; ..
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carcinoma of anal margin; Perianal skin carcinoma
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An anal carcinoma that has_material_basis_in abnor.. [+]An anal carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the anal margin (where the canal meets the outside skin at the anus).
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external ear carcinoma
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carcinoma of external ear; carcinoma of the Extern..
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carcinoma of external ear; carcinoma of the External ear
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An external ear cancer that has_material_basis_in .. [+]An external ear cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
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morpheaform basal cell carcinoma
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Cicatricial basal-cell carcinoma; Basal cell carci..
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Cicatricial basal-cell carcinoma; Basal cell carcinoma, morphea; Morphea-type (Sclerosing) Basal cell carcinoma
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n_a
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scimitar syndrome
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congenital venolobar syndrome; pulmonary venolobar..
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congenital venolobar syndrome; pulmonary venolobar syndrome; hypogenetic lung syndrome; mirror-image lung syndrome; total anomalous pulmonary venous return; vena cava bronchovascular syndrome; Halasz syndrome
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A congenital heart disease that is characterized b.. [+]A congenital heart disease that is characterized by partial or entire anomalous curved venous drainage of the right lung to the inferior vena cava, association with variable right lung and pulmonary artery hypoplasia, dextraposition of the heart and an anomalous systemic blood supply to the ipsilateral lung.
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parovarian cyst
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Cyst, fimbrial; Embryonic fimbrial cyst
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A female reproductive system disease that is chara.. [+]A female reproductive system disease that is characterized by epithelium-lined fluid-filled cysts in the adnexa adjacent to the fallopian tube and ovary.
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apparent mineralocorticoid excess syndrome
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cortisol 11-beta-ketoreductase deficiency; syndrom..
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cortisol 11-beta-ketoreductase deficiency; syndrome of apparent mineralocorticoid excess (disorder); 11-beta-hydroxysteroid dehydrogenase deficiency type 2; syndrome of apparent mineralocorticoid excess; Ulick syndrome
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A steroid inherited metabolic disorder characteriz.. [+]A steroid inherited metabolic disorder characterized by decreased conversion of biologically active cortisol to inactive cortisone resulting in low aldosterone levels, metabolic alkalosis, hypernatremia, hypokalemia and early-onset severe hypertension that has_material_basis_in homozygous or compound heterozygous mutation in the HSD11B2 gene on chromosome 16.
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intracranial embolism
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Cerebral embolism with cerebral infarction; cerebr..
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Cerebral embolism with cerebral infarction; cerebral embolism
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n_a
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renal carcinoma
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carcinoma of kidney; kidney carcinoma
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A kidney cancer that derives_from the lining of th.. [+]A kidney cancer that derives_from the lining of the proximal convoluted tubule (the very small tubes in the kidney that filter the blood and remove waste products).
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multilocular clear cell renal cell carcinoma
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cystadenocarcinoma of kidney; cystadenocarcinoma o..
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cystadenocarcinoma of kidney; cystadenocarcinoma of kidney (disorder); renal cystadenocarcinoma
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n_a
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papillary renal cell carcinoma
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Chromophil carcinoma of kidney; sporadic papillary..
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Chromophil carcinoma of kidney; sporadic papillary renal cell carcinoma; Papillary renal cell carcinoma; papillary kidney carcinoma
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A renal cell carcinoma that is characterized by th.. [+]A renal cell carcinoma that is characterized by the development of multiple, bilateral papillary renal tumors.
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achondroplasia
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Chondrodystrophia; osteosclerosis congenita; Achon..
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Chondrodystrophia; osteosclerosis congenita; Achondroplastic physique
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An osteochondrodysplasia that is characterized by .. [+]An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone.
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Ludwig's angina
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cellulitis of floor of mouth; Ludwig angina
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n_a
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bile duct cancer
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Ca extrahepatic bile ducts; bile duct tumor; malig..
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Ca extrahepatic bile ducts; bile duct tumor; malignant neoplasm of the extrahepatic bile duct
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A biliary tract cancer that is located_in the bile.. [+]A biliary tract cancer that is located_in the bile duct.
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1 articles
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