| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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breast cancer
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primary breast cancer; malignant neoplasm of breas..
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primary breast cancer; malignant neoplasm of breast; malignant tumor of the breast; mammary neoplasm; mammary cancer; mammary tumor; 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 duct papilloma
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papilloma of the breast; duct papilloma of breast ..
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papilloma of the breast; duct papilloma of breast (disorder); duct papilloma of breast
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An intraductal papillary breast neoplasm that is h.. [+]An intraductal papillary breast neoplasm that is has_material_basis_in epithelial tissue on papillae of vascularized connective tissue.
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benign breast phyllodes tumor
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Phyllodes neoplasm; Phyllodes tumor, benign; Phyll..
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Phyllodes tumor, benign; Phyllodes neoplasm; Phyllodes tumor, benign (morphologic abnormality); benign cystosarcoma phyllodes; benign Phyllodes neoplasm; benign Phyllodes neoplasm of the breast; Cystosarcoma phyllodes NOS (morphologic abnormality); Cystosarcoma phyllodes, NOS; Cystosarcoma phyllodes
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A breast benign neoplasm that has_material_basis_i.. [+]A breast benign neoplasm that has_material_basis_in epithelial and stromal tissue and derives_from periductal stromal cells of the breast.
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malignant pineal area germ cell neoplasm
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Pineal germ cell tumor; pineal germ cell tumor; Pi..
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pineal germ cell tumor; Pineal germ cell tumor; Pineal Region germ cell tumor; Pineal germ cell tumor (disorder); malignant Pineal Parenchymal germ cell tumor
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n_a
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facial hemiatrophy
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PARRY-ROMBERG SYNDROME
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n_a
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malignant exocrine pancreas neoplasm
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pancreatic Exocrine tumour; pancreatic Exocrine tu..
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pancreatic Exocrine tumour; pancreatic Exocrine tumor; malignant tumor of exocrine pancreas (disorder); tumor of exocrine pancreas (disorder); malignant neoplasm of the Exocrine pancreas; malignant tumor of exocrine pancreas; malignant tumour of exocrine pancreas; tumour of exocrine pancreas
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A pancreatic cancer that arises from the epithelia.. [+]A pancreatic cancer that arises from the epithelial cells of the exocrine pancreatic tissue.
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1 articles
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islet cell tumor
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pancreatic Endocrine neoplasm; Islet cell neoplasm..
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pancreatic Endocrine neoplasm; Islet cell neoplasm; Islet cell tumor; malignant pancreatic Endocrine tumor; malignant tumor of endocrine pancreas (disorder); Islet cell tumour; endocrine pancreas cancer; islet cell tumour; malignant pancreatic Endocrine tumour; malignant tumour of endocrine pancreas; malignant tumor of endocrine pancreas
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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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neuritis
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peripheral neuritis
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n_a
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1 articles
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childhood absence epilepsy
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petit mal seizure; pyknolepsy; absence seizure
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A childhood electroclinical syndrome that is chara.. [+]A childhood electroclinical syndrome that is characterized by brief and frequent absence seizures in children with age of onset between four and ten years.
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1 articles
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McCune Albright syndrome
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polyostotic fibrous dysplasia; fibrous Dysplasia o..
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polyostotic fibrous dysplasia; fibrous Dysplasia of bone; fibrous dysplasia of bone (disorder); osteitis fibrosa disseminata; fibrous dysplasia of bone
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A syndrome that is characterized by polyostotic fi.. [+]A syndrome that is characterized by polyostotic fibrous dysplasia, precocious puberty, and café-au-lait spots and has_material_basis_in spontaneous post zygotic missense mutation at ARG201 or Gln227 of the GNAS gene during embryogenesis.
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Angelman syndrome
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puppetlike syndrome; happy puppet syndrome
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A syndrome that is characterized by delayed develo.. [+]A syndrome that is characterized by delayed development, intellectual disability, severe speech impairment, and problems with movement and balance.
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Rubinstein-Taybi syndrome
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proximal chromosome 16p13.3 deletion syndrome; Bro..
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proximal chromosome 16p13.3 deletion syndrome; Broad Thumb-Hallux syndrome; Rubinstein syndrome
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A syndrome characterized by short stature, moderat.. [+]A syndrome characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes.
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intestinal perforation
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Perforation of intestine
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n_a
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vulval Paget's disease
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Paget's disease of vulva; Paget's disease of vulva..
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Paget's disease of vulva; Paget's disease of vulva (disorder); vulval Paget disease; Vulval Paget's disease (disorder); Vulvar Paget's disease
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A vulva adenocarcinoma that is characterized by di.. [+]A vulva adenocarcinoma that is characterized by distinctive large cells with prominent cytoplasm, referred to as Paget cells and is an intraepithelial neoplasm of epithelial origin expressing apocrine or eccrine glandular-like features.
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factor V deficiency
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Proaccelerin deficiency; deficiency, labile; Hered..
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Proaccelerin deficiency; deficiency, labile; Hereditary hypoproaccelerinaemia; Labile factor deficiency
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n_a
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blood platelet disease
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platelet disorder; Thrombocytopathy
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A blood coagulation disease that is characterized .. [+]A blood coagulation disease that is characterized by an abnormal increase or decrease in platelets or platelet dysfunction.
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Glanzmann's thrombasthenia
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platelet-type bleeding disorder 2; platelet glycop..
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platelet-type bleeding disorder 2; platelet glycoprotein IIb-IIIa deficiency; BDPLT2; deficiency of platelet fibrinogen receptor; Glycoprotein IIb/IIIa defect; thrombasthenia of Glanzmann and Naegeli; Thrombocytasthenia; deficiency of glycoprotein complex IIb-IIIa; deficiency of GP IIb-IIIa complex; Glanzmann thrombasthenia
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A blood coagulation disease characterized by autos.. [+]A blood coagulation disease characterized by autosomal recessive inheritance of failure of platelet aggregation and absent or diminished clot retraction that has_material_basis_in mutation in the ITGA2B or ITGB3 genes on chromosome 17q21.32.
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essential thrombocythemia
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primary Thrombocytosis; familial thrombocytosis; h..
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primary Thrombocytosis; familial thrombocytosis; hereditary thrombocythemia; hemorrhagic thrombocythemia; Essential thrombocythaemia
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A myeloproliferative neoplasm that is characterize.. [+]A myeloproliferative neoplasm that is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage and that results_in the overproduction of platelets.
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factor XI deficiency
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plasma thromboplastin antecedent deficiency; Hered..
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plasma thromboplastin antecedent deficiency; Hereditary factor XI deficiency disease; Rosenthal's disease; Congenital factor XI deficiency; hemophilia C
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A blood coagulation disease that is characterized .. [+]A blood coagulation disease that is characterized by deficiency of factor XI clotting factor and mild prolonged bleeding, especially of mucosal sites following trauma, and has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation of the coagulation factor XI gene of chromosome 4q35.2.
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focal epilepsy
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partial epilepsy; localisation-related epilepsy
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An epilepsy syndrome that is characterized by seiz.. [+]An epilepsy syndrome that is characterized by seizures that are preceded by an isolated disturbance of a cerebral function and arise from an epileptic focus, a small portion of the brain that serves as the irritant driving the epileptic response.
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16 articles
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craniosynostosis
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Premature closure of cranial sutures
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A synostosis that results_in premature fusion loca.. [+]A synostosis that results_in premature fusion located_in skull.
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1 articles
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ovarian cancer
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primary ovarian cancer; malignant Ovarian tumor; o..
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primary ovarian cancer; malignant Ovarian tumor; ovarian neoplasm; ovary neoplasm; tumor of the Ovary; malignant tumour of ovary
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A female reproductive organ cancer that is located.. [+]A female reproductive organ cancer that is located_in the ovary.
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1 articles
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motor peripheral neuropathy
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Peripheral Motor Neuropathy; Hereditary motor and ..
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Peripheral Motor Neuropathy; Hereditary motor and sensory neuropathy; HSMN; HSMN - Hereditary sensory and motor neuropathy; neuropathic muscular atrophy
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A neuropathy that is characterized by inflammation.. [+]A neuropathy that is characterized by inflammation or degeneration of the peripheral motor nerves.
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sensory peripheral neuropathy
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peripheral Sensory Neuropathy; Sensory neuropathy ..
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peripheral Sensory Neuropathy; Sensory neuropathy (disorder); sensory neuropathy; Sensory neuropathy
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A neuropathy that involves damage to nerves of the.. [+]A neuropathy that involves damage to nerves of the peripheral nervous system.
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suppurative periapical periodontitis
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Periapical abscess (disorder); Periapical abscess; ..
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Periapical abscess; Periapical abscess (disorder); Apical abscess; Suppurative apical periodontitis; Dentoalveolar abscess
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n_a
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juxtacortical chondroma
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Periosteal Chondroma; Juxtacortical chondroma (mor..
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Periosteal Chondroma; Juxtacortical chondroma (morphologic abnormality); Juxtacortical chondroma
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n_a
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choroid plexus papilloma
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pediatric papilloma of Choroid Plexus; papilloma o..
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pediatric papilloma of Choroid Plexus; papilloma of the Choroid Plexus; childhood papilloma of choroid plexus; Choroid plexus papilloma NOS (morphologic abnormality); Choroid plexus papilloma, no ICD-O subtype (morphologic abnormality); childhood choroid plexus papilloma
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n_a
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1 articles
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4 matches
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breast pericanalicular fibroadenoma
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Pericanalicular Fibroadenoma of breast; Pericanali..
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Pericanalicular Fibroadenoma of breast; Pericanalicular fibroadenoma (morphologic abnormality); Pericanalicular fibroadenoma
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A breast fibroadenoma that is characterized by str.. [+]A breast fibroadenoma that is characterized by stromal proliferation around epithelial structures.
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glycogen storage disease II
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Pompe's disease; acid maltase deficiency; deficien..
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Pompe's disease; acid maltase deficiency; deficiency of maltase; Generalized glycogenosis (disorder); glycogen storage disease type II; Glycogenosis, type 2; Lysosomal alpha-1,4-glucosidase deficiency (disorder); Glycogen storage disease, type II (disorder); Lysosomal alpha-1,4-glucosidase deficiency; Generalized glycogenosis; deficiency of glucoamylase; Glycogen storage disease, type II; Glycogen storage disease 2
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A glycogen storage disease that has_material_basis.. [+]A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome.
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irritant dermatitis
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primary irritant dermatitis; primary irritant derm..
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primary irritant dermatitis; primary irritant dermatitis (disorder); Irritant Contact Dermatitis; Irritant contact dermatitis; irritant contact dermatitis
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A contact dermatitis that is characterized by a cu.. [+]A contact dermatitis that is characterized by a cutaneous inflammatory reaction to repeated contact with an irritant substance, friction, liquid, or adverse temperature that interacts with the skin and often has_symptom erythema, edema, scaling, pain, pruritis, or burning sensation.
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lung sarcoma
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pulmonary sarcoma
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A lung cancer that is located_in the lung and that.. [+]A lung cancer that is located_in the lung and that arises from transformed cells of mesenchymal origin.
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malignant oculomotor nerve tumor
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primary malignant neoplasm of oculomotor nerve; pr..
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primary malignant neoplasm of oculomotor nerve; primary malignant neoplasm of oculomotor nerve (disorder); IIIrd Cranial nerve neoplasm, malignant
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n_a
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acquired polycythemia
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Polycythemia, secondary; secondary polycythemia; s..
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Polycythemia, secondary; secondary polycythemia; secondary polycythemia (disorder); secondary polycythemia NOS (disorder); secondary Polycythemia
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n_a
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stress polycythemia
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Polycythemia, emotional; Gaisbock's syndrome (diso..
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Polycythemia, emotional; Gaisbock's syndrome (disorder); Stress polycythemia (disorder); Stress polycythemia [dup] (disorder); Stress polycythemia; Gaisbock's syndrome; Stress Polycythemia
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n_a
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erythropoietin polycythemia
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Polycythaemia due to Excess Erythropoetin Producti..
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Polycythaemia due to Excess Erythropoetin Production; Polycythemia, nephrogenous; Polycythemia due to excess erythopoetin production; secondary polycythemia with excess erythropoietin (disorder); Nephrogenous polycythemia; secondary polycythemia with excess erythropoietin
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n_a
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benign prostate phyllodes tumor
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prostate phyllodes tumour; prostate phyllodes tumo..
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prostate phyllodes tumour; prostate phyllodes tumor; Phyllodes neoplasm of the prostate; benign Phyllodes neoplasm of the prostate; benign prostate phyllodes tumour
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n_a
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acute pancreatitis
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PANCREATITIS NECROTIZING; acute necrotizing pancre..
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PANCREATITIS NECROTIZING; acute necrotizing pancreatitis (disorder); acute pancreatitis (disorder) [Ambiguous]; acute pancreatitis NOS; acute pancreatitis NOS (disorder); acute pancreatitis unspecified (disorder); acute pancreatitis (disorder); acute necrotizing pancreatitis
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A pancreatitis that is characterized by inflammati.. [+]A pancreatitis that is characterized by inflammation of the pancreas over a short period of time and has symptoms of severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock.
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Newcastle disease
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Pseudo-fowlpest; Newcastle's disease
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A viral infectious disease that results_in infecti.. [+]A viral infectious disease that results_in infection in birds and humans, has_material_basis_in Avian orthoavulavirus 1, which is transmitted_by contact with feces and urine of an infected bird, or transmitted_by fomites. The infection has_symptom conjunctivitis, has_symptom headache, and has_symptom lacrimation in humans, and has_symptom gasping, has_symptom coughing, has_symptom twisting of head and neck, has_symptom circling, has_symptom complete paralysis, has_symptom watery diarrhea, and has_symptom reduced egg production in birds.
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kidney papillary necrosis
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Papillary necrosis; renal PAPILLITIS NECROTIZING; ..
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Papillary necrosis; renal PAPILLITIS NECROTIZING; Necrotizing renal papillitis
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n_a
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IgA glomerulonephritis
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primary IgA nephropathy; Berger's IgA or IgG nephr..
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primary IgA nephropathy; Berger's IgA or IgG nephropathy; Focal Glomerulonephritis; IGA glomerulonephritis; IgA nephropathy; segmental glomerulonephritis
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A glomerulonephritis characterized by build up of .. [+]A glomerulonephritis characterized by build up of IgA antibody in the glomerulus.
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testicular cancer
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pediatric testicular neoplasm; childhood neoplasm ..
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pediatric testicular neoplasm; childhood neoplasm of the testis; neoplasm of testis (disorder); testicular tumor; testis neoplasm; testicular tumor (disorder); neoplasm of testis; testis cancer
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A male reproductive system cancer that is located_.. [+]A male reproductive system cancer that is located_in the testicles.
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breast malignant phyllodes tumor
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phyllodes breast tumour; Phyllodes tumor, malignan..
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phyllodes breast tumour; Phyllodes tumor, malignant; Phyllodes breast neoplasm; Phyllodes tumor, malignant (morphologic abnormality); phyllodes breast tumor; malignant cystosarcoma phyllodes; malignant Mammary Phyllodes tumor; malignant Phyllodes neoplasm; malignant phyllodes tumor (morphologic abnormality); malignant cystosarcoma phyllodes (morphologic abnormality); malignant phyllodes tumor of breast (disorder); breast malignant phyllodes tumour; malignant Mammary Phyllodes tumour; malignant phyllodes tumor; malignant phyllodes tumor of breast; malignant phyllodes tumour; malignant phyllodes tumour of breast
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A breast cancer that is characterized by a promine.. [+]A breast cancer that is characterized by a prominent infiltrative border, unequivocal sarcomatous areas, and stromal overgrowth and arises_from the stroma, lined by an epithelial and myoepithelial bilayer, forming a leaflike structure. They tend to grow rapidly and present in middle-aged women (40s-50s).
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mucinous adenocarcinoma
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Pseudomyxoma peritonei with unknown primary site; ..
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Pseudomyxoma peritonei with unknown primary site; mucin-producing adenocarcinoma; Mucin-producing adenocarcinoma (morphologic abnormality); Mucin-Secreting carcinoma; Mucous carcinoma; Mucin-producing adenocarcinoma; Mucin-Secreting adenocarcinoma
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An adenocarcinoma that derives_from epithelial cel.. [+]An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin.
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glioblastoma
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primary glioblastoma multiforme; GBM; GBM (Gliobla..
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primary glioblastoma multiforme; GBM; GBM (Glioblastoma); grade IV adult Astrocytic tumor; adult glioblastoma multiforme; spongioblastoma multiforme; glioblastoma multiforme
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A malignant astrocytoma characterized by the prese.. [+]A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes.
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6 articles
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8 matches
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childhood astrocytic tumor
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pediatric astrocytoma; Juvenile astrocytoma (morph..
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pediatric astrocytoma; Juvenile astrocytoma (morphologic abnormality); Juvenile astrocytoma; juvenile astrocytoma
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n_a
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skin papilloma
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papilloma of skin; papilloma of skin (disorder); c..
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papilloma of skin (disorder); papilloma of skin; cutaneous papilloma; skin papilloma NOS; Cutaneous papilloma
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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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childhood oligodendroglioma
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pediatric Oligodendroglioma
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n_a
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neurilemmoma
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Psammomatous schwannoma; schwannoma
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A neuroma that is characterized as a benign nerve .. [+]A neuroma that is characterized as a benign nerve sheath tumor that is composed of Schwann cells.
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1 articles
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melanotic neurilemmoma
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Pigmented Neurilemmoma; Pigmented schwannoma; Mela..
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Pigmented schwannoma; Pigmented Neurilemmoma; Melanotic neurilemmoma (disorder); Melanotic Schwannoma (morphologic abnormality); Melanotic Schwannoma; Melanotic neurilemmoma
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n_a
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central nervous system lymphoma
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primary CNS lymphoma; Microglioma
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A hematologic cancer that has_material_basis_in ly.. [+]A hematologic cancer that has_material_basis_in lymphoma located_in central nervous system.
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