| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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aggressive NK-cell leukemia
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large granular Lymphocyte Leukemia, NK-cell type; ..
[+]
large granular Lymphocyte Leukemia, NK-cell type; Aggressive NK-cell leukemia (morphologic abnormality); aggressive NK-cell leukaemia; natural killer cell leukaemia; natural killer cell leukemia
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A leukemia that is characterized by the systemic p.. [+]A leukemia that is characterized by the systemic proliferation of NK cells closely associated with Epstein-Barr virus and that is located_in the peripheral blood, bone marrow, liver, and spleen.
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chronic lymphocytic leukemia
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lymphoplasmacytic leukemia; lymphoplasmacytic leuk..
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lymphoplasmacytic leukemia; lymphoplasmacytic leukaemia; B-cell chronic lymphocytic leukemia; B-cell chronic lymphoid leukemia; B-cell chronic lymphocytic leukaemia; chronic lymphatic leukaemia; chronic lymphocytic leukaemia; CLL; chronic lymphatic leukemia
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A lymphocytic leukemia characterized by over produ.. [+]A lymphocytic leukemia characterized by over production of B-cells and their accumulation in bone marrow and blood.
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oculocerebrorenal syndrome
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lowe oculocerebrorenal syndrome; Lowe syndrome; oc..
[+]
Lowe syndrome; lowe oculocerebrorenal syndrome; oculocerebrorenal syndrome of Lowe
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A syndrome that has_material_basis_in mutation in .. [+]A syndrome that has_material_basis_in mutation in the OCRL gene on chromosome Xq26 and that is characterized by hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, amino aciduria, and reduced ammonia production by the kidney.
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1 articles
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Fanconi syndrome
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Lignac-Fanconi syndrome; adult Fanconi syndrome; D..
[+]
Lignac-Fanconi syndrome; adult Fanconi syndrome; De Toni-Fanconi syndrome; Fanconi-de Toni syndrome; Fanconi-de-Toni syndrome; Infantile nephropathic cystinosis; Congenital Fanconi syndrome (disorder); Congenital Fanconi syndrome; deToni Fanconi syndrome; adult Fanconi Anemia
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A renal tubular transport disease of the proximal .. [+]A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting.
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2 articles
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esophagus lymphoma
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Lymphoma of oesophagus; Lymphoma of esophagus; oes..
[+]
Lymphoma of esophagus; Lymphoma of oesophagus; oesophagus lymphoma
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n_a
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gingival recession
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localized gingival recession; localized gingival r..
[+]
localized gingival recession; localized gingival recession (disorder); Gingival recession (disorder); Gingival recession NOS (disorder); Gingival recession, localized; Gingival recession, unspecified; minimal gingival recession; moderate gingival recession; severe gingival recession; Gingival recession
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n_a
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paranasal sinus lymphoma
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Lymphoma of Accessory sinus; lymphoma of paranasal..
[+]
Lymphoma of Accessory sinus; lymphoma of paranasal sinus
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n_a
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hypolipoproteinemia
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Lipoprotein deficiencies; Hypolipoproteinaemia (di..
[+]
Lipoprotein deficiencies; Hypolipoproteinaemia (disorder); Hypolipoproteinaemia
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A lipid metabolism disorder that is characterized .. [+]A lipid metabolism disorder that is characterized by unusually low levels of fats in the blood.
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1 articles
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Norum disease
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LECITHIN CHOLESTEROL ACYLTRANSFERASE DEFICIENCY; L..
[+]
LECITHIN CHOLESTEROL ACYLTRANSFERASE DEFICIENCY; LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY; lecithin acyltransferase deficiency
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n_a
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cystic echinococcosis
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Liver echinococcus granulosus; lung echinococcus g..
[+]
Liver echinococcus granulosus; lung echinococcus granulosus (disorder); lung echinococcus granulosus; Liver echinococcus granulosus (disorder); echinococcus granulosus infectious disease of liver; Echinococcus granulosus infection (disorder); Echinococcus granulosus infection of lung; Echinococcus granulosus infection of lung (disorder); Echinococcus granulosus infection of thyroid (disorder); Echinococcus granulosus infection, unspecified; echinococcus granulosus infectious disease; Echinococcus granulosus infectious disease of liver (disorder); Thyroid echinococcus granulosus (disorder); unilocular echinococcosis; unilocular hydatid disease; Unspecified echinococcus granulosus (disorder); echinococcus granulosus; Echinococcus granulosus infection; Echinococcus granulosus infectious disease of liver; echinococcus granulosus infectious disease of thyroid; Echinococcus granulosus infection of thyroid; Thyroid echinococcus granulosus
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An echinococcosis that is caused by the larvae of .. [+]An echinococcosis that is caused by the larvae of Echinococcus granulosus. Hepatic involvement can result in abdominal pain, a mass in the hepatic area, and biliary duct obstruction. Pulmonary involvement can produce chest pain, cough, and hemoptysis. Rupture of the cysts produce fever, urticaria, eosinophilia, and anaphylactic shock, as well as cyst dissemination. Brain, bone, heart can also be infected.
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echinococcosis
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liver echinococcus; Liver echinococcus unspecified..
[+]
liver echinococcus; Liver echinococcus unspecified (disorder); Echinococcosis, unspecified, of liver (disorder); Echinococcosis of liver (disorder); Echinococcosis, unspecified, of liver; hepatic echinococcosis; hydatid disease; pulmonary echinococcosis; echinococcal disease; Echinococcosis of liver; hydatidosis
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A parasitic helminthiasis infectious disease that .. [+]A parasitic helminthiasis infectious disease that involves parasitic infection of humans and domestic animals caused by the larval stages of tapeworms of the genus Echinococcus in the liver, lungs, spleen, brain, heart and kidneys.
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normal pressure hydrocephalus
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Low pressure hydrocephalus
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n_a
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pulmonary systemic sclerosis
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lung involvement in systemic sclerosis; lung disea..
[+]
lung involvement in systemic sclerosis; lung disease with systemic sclerosis; lung disease with systemic sclerosis (disorder)
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n_a
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small intestine leiomyoma
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leiomyoma, small Bowel
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A small intestine benign neoplasm that is located_.. [+]A small intestine benign neoplasm that is located_in the small intestine.
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pancreas lymphoma
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Lymphoma of pancreas
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n_a
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Gaucher's disease
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lipoid histiocytosis (kerasin type); glocucerebros..
[+]
lipoid histiocytosis (kerasin type); glocucerebrosidase deficiency; kerasin thesaurismosis; glucosylceramide beta-glucosidase deficiency; acid beta-glucosidase deficiency; Gaucher disease
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A sphingolipidosis characterized by deficiency of .. [+]A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver.
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rectum lymphoma
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Lymphoma of rectum
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n_a
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urethra leiomyoma
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leiomyoma of the urethra
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An urethral benign neoplasm that derives_from smoo.. [+]An urethral benign neoplasm that derives_from smooth muscle cells.
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factor V deficiency
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Labile factor deficiency; deficiency, labile; Here..
[+]
Labile factor deficiency; deficiency, labile; Hereditary hypoproaccelerinaemia; Proaccelerin deficiency
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n_a
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focal epilepsy
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localisation-related epilepsy; partial 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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spondylosis
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Lumbar spondylosis with myelopathy; lumbosacral sp..
[+]
Lumbar spondylosis with myelopathy; lumbosacral spondylosis without myelopathy; Lumbar spondylosis with myelopathy (disorder); Spondylogenic compression of thoracic spinal cord; Spondylosis with myelopathy (disorder); Spondylogenic compression of lumbar spinal cord; Spondylosis with myelopathy; Thoracic or lumbar spondylosis with myelopathy; spondylosis with myelopathy
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A bone structure disease that involves degeneratio.. [+]A bone structure disease that involves degeneration between vertebra located_in vertebral column.
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myelophthisic anemia
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Leukoerythroblastosis; ANEMIA LEUKOERYTHROBLASTIC; ..
[+]
Leukoerythroblastosis; ANEMIA LEUKOERYTHROBLASTIC; Anemia, leukoerythroblastic; myelophthisis
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An aplastic anemia that is characterized by displa.. [+]An aplastic anemia that is characterized by displacement of hemopoietic bone-marrow tissue either by fibrosis, tumors or granulomas.
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tooth erosion
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localized erosion; generalized erosion
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n_a
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benign fibrous mesothelioma
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localized benign fibrous Mesothelioma; fibrous mes..
[+]
localized benign fibrous Mesothelioma; fibrous mesothelioma, benign (morphologic abnormality); fibrous mesothelioma, benign
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n_a
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nodular tenosynovitis
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localized Giant cell tumor of Tenosynovium; Synovi..
[+]
localized Giant cell tumor of Tenosynovium; Synovioma, benign (morphologic abnormality); benign synovioma; benign tumor of Synovium; Synovioma, benign
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n_a
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glycogen storage disease II
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Lysosomal alpha-1,4-glucosidase deficiency; Lysoso..
[+]
Lysosomal alpha-1,4-glucosidase deficiency; Lysosomal alpha-1,4-glucosidase deficiency (disorder); acid maltase deficiency; deficiency of maltase; Generalized glycogenosis (disorder); glycogen storage disease type II; Glycogenosis, type 2; Glycogen storage disease, type II (disorder); Generalized glycogenosis; Pompe's disease; 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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membranoproliferative glomerulonephritis
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Lobular glomerulonephritis; chronic glomerulonephr..
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Lobular glomerulonephritis; chronic glomerulonephritis, lobular
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n_a
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inner ear disease
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labyrinthine disease
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An auditory system disease that is located in the .. [+]An auditory system disease that is located in the part of the ear that contains organs of the senses of hearing and equilibrium.
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5 articles
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hepatobiliary disease
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liver and biliary tract disease
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A gastrointestinal system disease that is located_.. [+]A gastrointestinal system disease that is located_in the liver and/or biliary tract.
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13 articles
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3 matches
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gallbladder cancer
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localized malignant gallbladder neoplasm; gallblad..
[+]
localized malignant gallbladder neoplasm; gallbladder neoplasm; malignant neoplasm of gallbladder; malignant tumor of the gallbladder; gallbladder Ca; malignant tumour of gallbladder; tumor of the gallbladder
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A biliary tract cancer that is located_in the gall.. [+]A biliary tract cancer that is located_in the gallbladder.
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cutis laxa
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loose skin; Cutis laxa
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A skin disease characterized by loose, hanging, wr.. [+]A skin disease characterized by loose, hanging, wrinkled skin lacking in elasticity.
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1 articles
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Pelizaeus-Merzbacher disease
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Leukodystrophy, sudanophilic; HLD1; Pelizaeus Merz..
[+]
Leukodystrophy, sudanophilic; HLD1; Pelizaeus Merzbacher brain sclerosis; Pelizaeus-Merzbacher brain sclerosis; sudanophilic leukodystrophy, Paelizeus-Merzbacher type; diffuse familial brain sclerosis; hypomyelinating leukodystrophy 1; PMD
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A hypomyelinating leukodystrophy characterized by .. [+]A hypomyelinating leukodystrophy characterized by impaired myelin formation, nystagmus, spastic quadriplegia, ataxia, and developmental delay that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22.
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GM1 gangliosidosis
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Landing syndrome; Beta-galactosidase deficiency; b..
[+]
Landing syndrome; Beta-galactosidase deficiency; beta-Galactosidase deficiency; deficiency of beta-galactosidase (disorder); GM>1< gangliosidosis (disorder); GM1 gangliosidosis (disorder); deficiency of beta-galactosidase; gangliosidosis GM1
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A gangliosidosis that is characterized by progress.. [+]A gangliosidosis that is characterized by progressive destruction of nerve cells in the brain and spinal cord and that has_material_basis_in mutations in the gene encoding beta-galactosidase-1 (GLB1) resulting in build up of GM1 ganglioside.
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Ewing sarcoma of bone
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localized Skeletal Ewing's sarcoma; bone Ewing's s..
[+]
localized Skeletal Ewing's sarcoma; bone Ewing's sarcoma; bone localized Ewing sarcoma; bone localized Ewing's sarcoma; Skeletal Ewing's tumor; bone Ewing sarcoma; Ewing's sarcoma of bone; Ewing's sarcoma/bone peripheral primitive neuroectodermal tumor
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A peripheral primitive neuroectodermal tumor that .. [+]A peripheral primitive neuroectodermal tumor that is located_in bone.
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Ewing sarcoma
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localized Ewing's sarcoma; localized Ewing's sarco..
[+]
localized Ewing's sarcoma; localized Ewing's sarcoma/peripheral primitive neuroectodermal tumor; localized Ewing sarcoma; localized peripheral primitive neuroectodermal tumor; localized Ewing's tumor; Ewing's sarcoma/peripheral primitive neuroectodermal tumor; Ewing's tumor; Ewings sarcoma; PNET of Thoracopulmonary Region; Ewing's family localized tumor; peripheral primitive neuroectodermal tumor; Ewings sarcoma-primitive neuroectodermal tumor
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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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invasive lobular carcinoma
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Lobular carcinoma; Lobular carcinoma of breast; Lo..
[+]
Lobular carcinoma of breast; Lobular carcinoma; Lobular carcinoma of the breast; Lobular carcinoma of breast (disorder); Lobular carcinoma NOS (morphologic abnormality); Lobular carcinoma (morphologic abnormality)
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A breast lobular carcinoma that is characterized b.. [+]A breast lobular carcinoma that is characterized by infiltration into the tissue of the breast outside of the lobule where it originated.
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beta-mannosidosis
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lysosomal beta-mannosidase deficiency; Beta-D-mann..
[+]
lysosomal beta-mannosidase deficiency; Beta-D-mannosidosis (disorder); Beta-D-mannosidosis; beta-mannosidase deficiency
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A lysosomal storage disease that has_material_basi.. [+]A lysosomal storage disease that has_material_basis_in deficiency of the beta-A-manosidase enzyme resulting in the disruption of N-linked glycoprotein oligosaccharide catabolism.
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pulmonary plasma cell granuloma
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Lymphocytic pseudotumor of lung; granuloma, plasma..
[+]
Lymphocytic pseudotumor of lung; granuloma, plasma cell, pulmonary; Sclerosing hemangiocytoma of lung
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A lung disease that is characterized by an inflamm.. [+]A lung disease that is characterized by an inflammatory lesion that is composed of plasma cells and fibrous tissue.
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pleural empyema
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lung empyema; abscess of pleural cavity; empyema; ..
[+]
lung empyema; abscess of pleural cavity; empyema; Empyema (& pleural); Empyema of pleura; Empyema with fistula (& pleural); Empyema with pleural fistula; Empyema without mention of fistula; Pleural empyema with fistula; pleural empyema with no fistula; pyothorax; Thorax abscess; Empyema, chest; Purulent pleurisy; abscess of thorax; Empyema; Empyema of pleura without fistula; Empyema with fistula; Empyema with no fistula; purulent pleuritis; empyema with fistula
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A soft tissue infectious disease that involves acc.. [+]A soft tissue infectious disease that involves accumulation of pus in the pleural cavity as a result of infection within the lung (pneumonia) or a lung abscess spreading into the space. The symptoms include cough, fever, chest pain, sweating and shortness of breath.
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myofibroma
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Lipoleiomyoma; Myofibroma; Myofibroma (morphologic..
[+]
Lipoleiomyoma; Myofibroma; Myofibroma (morphologic abnormality)
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n_a
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thymus large cell carcinoma
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large cell carcinoma of the Thymus
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n_a
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oral leukoedema
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Leukedema of mouth
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A mouth disease that is characterized by the prese.. [+]A mouth disease that is characterized by the presence of filmy opalescence of the mucosa in the early stages to a whitish gray cast with a coarsely wrinkled surface in the later stages, associated with intracellular edema of the spinous or malpighian layer.
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ideomotor apraxia
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Limb-kinetic apraxia; Limb-kinetic apraxia (findin..
[+]
Limb-kinetic apraxia; Limb-kinetic apraxia (finding); Ideomotor dyspraxia (disorder); Transcortical apraxia (finding); Classic apraxia (finding) [Ambiguous]; Ideomotor dyspraxia; Transcortical apraxia; Classic apraxia
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n_a
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aggressive systemic mastocytosis
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Lymphadenopathic mastocytosis with eosinophilia; A..
[+]
Lymphadenopathic mastocytosis with eosinophilia; ASM; Aggressive systemic mastocytosis (morphologic abnormality); Aggressive systemic mastocytosis
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n_a
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trichorhinophalangeal syndrome type II
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Langer-Giedion syndrome; trichorhinophalangeal syn..
[+]
Langer-Giedion syndrome; trichorhinophalangeal syndrome type 2; Trichorhinophalangeal dysplasia type II
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A syndrome that has_material_basis_in mutation of .. [+]A syndrome that has_material_basis_in mutation of the EXT1 and TRPS1 gene which results_in multiple exostosis along with short stature and cone-shaped ends located_in epiphysis. The disease has_symptom sparse scalp hair, has_symptom thin upper lip, has_symptom rounded nose.
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mediastinum leiomyoma
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leiomyoma of mediastinum
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A thoracic benign neoplasm that derives_from smoot.. [+]A thoracic benign neoplasm that derives_from smooth muscle cells and is located_in the mediastinum.
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extrahepatic bile duct leiomyoma
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leiomyoma of the extrahepatic bile duct
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A gastrointestinal system benign neoplasm that der.. [+]A gastrointestinal system benign neoplasm that derives_from smooth muscle cells and that is located_in the extrahepatic bile duct.
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central nervous system leiomyoma
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leiomyoma of CNS
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A central nervous system benign neoplasm that deri.. [+]A central nervous system benign neoplasm that derives_from smooth muscle cells.
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anus leiomyoma
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leiomyoma of anus
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A gastrointestinal system benign neoplasm that der.. [+]A gastrointestinal system benign neoplasm that derives_from smooth muscle cells and that is located_in the anus.
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pericardium leiomyoma
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leiomyoma of Pericardium
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A cardiovascular organ benign neoplasm that derive.. [+]A cardiovascular organ benign neoplasm that derives_from smooth muscle cells and that is located_in the pericardium.
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