| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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Glanzmann's thrombasthenia
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platelet-type bleeding disorder 2; platelet glycop..
[+]
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..
[+]
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 ..
[+]
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 ..
[+]
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..
[+]
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..
[+]
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..
[+]
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..
[+]
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..
[+]
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..
[+]
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; ..
[+]
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..
[+]
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 ..
[+]
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; ..
[+]
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..
[+]
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..
[+]
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..
[+]
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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embryonal carcinoma
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primary extragonadal embryonal carcinoma
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An embryonal cancer that is a type of germ cell tu.. [+]An embryonal cancer that is a type of germ cell tumour that is located_in the ovaries or located_in the testes.
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lymphangioleiomyomatosis
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pulmonary lymphangioleiomyomatosis; lung lymphangi..
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pulmonary lymphangioleiomyomatosis; lung lymphangioleiomyomatosis; lymphangiomyomatosis
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A lung disease that is characterized by progressiv.. [+]A lung disease that is characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas.
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childhood osteosarcoma
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pediatric osteosarcoma
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n_a
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Ewing sarcoma
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peripheral primitive neuroectodermal tumor; PNET o..
[+]
peripheral primitive neuroectodermal tumor; PNET of Thoracopulmonary Region; Ewing's sarcoma/peripheral primitive neuroectodermal tumor; Ewing's tumor; Ewings sarcoma; localized Ewing's tumor; localized peripheral primitive neuroectodermal tumor; Ewing's family localized tumor; localized Ewing sarcoma; localized Ewing's sarcoma/peripheral primitive neuroectodermal tumor; Ewings sarcoma-primitive neuroectodermal tumor; localized Ewing's sarcoma
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A connective tissue cancer that has_material_basis.. [+]A connective tissue cancer that has_material_basis_in neural crest cells derives_from undeveloped, undifferentiated neuroectoderm.
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chondrosarcoma
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primary chondrosarcoma of the bone; chondrosarcoma..
[+]
primary chondrosarcoma of the bone; chondrosarcoma of bone; Cartilaginous cancer
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A bone sarcoma that has_material_basis_in cells de.. [+]A bone sarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage.
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bone osteosarcoma
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primary Osteosarcoma of bone; Osteosarcoma of bone..
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primary Osteosarcoma of bone; Osteosarcoma of bone (disorder); Osteosarcoma of bone
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An osteosarcoma that is an usually aggressive mali.. [+]An osteosarcoma that is an usually aggressive malignant bone-forming mesenchymal neoplasm arising from the bone. It may arise de novo or from a pre-existing lesion of the bone. Pain and a palpable mass are the most frequent clinical sign and symptom. It may spread to other anatomic sites, particularly the lungs.
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mammary Paget's disease
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Paget's disease; Paget's disease of the breast; Pa..
[+]
Paget's disease of the breast; Paget's disease; Paget cell neoplasm; mammary Paget disease
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A breast adenocarcinoma that has_material_basis_in.. [+]A breast adenocarcinoma that has_material_basis_in epidermal Paget cells, which are malignant glandular epithelial cells with abundant and clear cytoplasm, usually containing mucin, and pleomorphic and hyperchromatic nucleus.
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scrotum Paget's disease
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Paget's disease of scrotum; scrotum Paget disease; ..
[+]
Paget's disease of scrotum; scrotum Paget disease
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n_a
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anal Paget's disease
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Paget's disease of the anus; Paget's disease of an..
[+]
Paget's disease of the anus; Paget's disease of anus; anal Paget disease
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n_a
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cutaneous Paget's disease
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Paget's disease of skin; cutaneous Paget disease; ..
[+]
Paget's disease of skin; cutaneous Paget disease; extramammary Paget's disease
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A skin carcinoma that is characterized by infiltra.. [+]A skin carcinoma that is characterized by infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli.
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lateral medullary syndrome
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Posterior inferior cerebellar artery syndrome; Pos..
[+]
Posterior inferior cerebellar artery syndrome; Posterior inferior cerebellar artery syndrome (disorder); Wallenberg syndrome
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A brain stem infarction that is characterized by h.. [+]A brain stem infarction that is characterized by hoarseness, dizziness, nausea, located_in the lateral part of the medulla oblongata that develops from a blockage in the posterior inferior cerebellar artery or one of its branches or of the vertebral artery, has_symptom vertigo, has_symptom ipsilateral cerebellar signs, has_symptom contralateral sensory deficits of limbs and torso, has_symptom ipsilateral sensory deficits of face, has_symptom laryngeal, pharyngeal, and palatal hemiparalysis, has_symptom ipsilateral Horner's syndrome.
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meningioma
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primary Meningeal tumor; meningothelial cell tumor..
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primary Meningeal tumor; meningothelial cell tumor; neoplasm of the meninges; supratentorial meningioma; intracranial meningioma; meningeal neoplasm
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A central nervous system cancer that are manifeste.. [+]A central nervous system cancer that are manifested in the central nervous system and arise from the arachnoid cap cells of the arachnoid villi in the meninges.
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1 articles
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liver cancer
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primary malignant neoplasm of Liver; primary malig..
[+]
primary malignant neoplasm of Liver; primary malignant neoplasm of liver (disorder); primary malignant neoplasm of liver NOS (disorder); primary malignant neoplasm of liver; primary liver cancer; ca liver - primary; Ca liver - primary (disorder); 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; malignant neoplasm of liver; neoplasm of liver (disorder); Ca liver - primary; 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; 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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mucinous cystadenocarcinoma
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Pseudomucinous cystadenocarcinoma; mucinous cystad..
[+]
Pseudomucinous cystadenocarcinoma; mucinous cystadenocarcinoma (morphologic abnormality); mucinous cystadenocarcinoma NOS (morphologic abnormality)
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A cystadenocarcinoma that derives_from epithelial .. [+]A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with a capsulated structure and mucus-producing cells.
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necrosis of pituitary
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Pituitary necrosis; necrosis of pituitary (disorde..
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Pituitary necrosis; necrosis of pituitary (disorder)
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n_a
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childhood kidney neoplasm
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pediatric renal tumor
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n_a
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