| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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Leydig cell hypoplasia type I
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Leydig cell hypoplasia due to complete luteinizing..
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Leydig cell hypoplasia due to complete luteinizing hormone resistance; Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation; Leydig cell hypoplasia due to complete LH receptor inactivation; 46,XY disorder of sex development due to complete LH receptor inactivation; 46,XY disorder of sex development due to complete LH resistance; 46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation; 46,XY disorder of sex development due to complete luteinizing hormone resistance; 46,XY DSD due to complete LH receptor inactivation; 46,XY DSD due to complete LH resistance; 46,XY DSD due to complete luteinizing hormone receptor inactivation; 46,XY DSD due to complete luteinizing hormone resistance
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A Leydig cell hypoplasia characterized by 46,XY ma.. [+]A Leydig cell hypoplasia characterized by 46,XY male pseudohermaphroditism, low testosterone and high LH levels, total lack of responsiveness to LH/CG challenge, lack of breast development, and absent development of secondary male sex characteristics that has_material_basis_in homozygous or compound heterozygous complete inactivation mutation in the LHCGR gene on chromosome 2p16.3.
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degenerative disc disease
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lumbar disc degeneration; cervical disc degenerati..
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lumbar disc degeneration; cervical disc degenerative disease; intervertebral disc degeneration; vertebral disc disease
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A bone deterioration disease that has_material_bas.. [+]A bone deterioration disease that has_material_basis_in gradual dehydration and tears located_in intervertebral disc.
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vagina leiomyoma
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leiomyoma of vagina
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n_a
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vascular cancer
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leiomyosarcoma of the renal Vein; Blood Vessel neo..
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leiomyosarcoma of the renal Vein; Blood Vessel neoplasm; blood vessel neoplasm; Blood vessel tumor (morphologic abnormality); Blood vessel tumors (morphologic abnormality); Blood vessel tumour disorder; Haemangiomatous tumour; malignant great vessel tumor; malignant tumor of pulmonary artery; malignant tumor of pulmonary Vein; malignant vascular neoplasm; malignant vascular tumor; neoplasm of great vessel; pulmonary artery malignant neoplasm; pulmonary vein malignant neoplasm; renal vein leiomyosarcoma; vascular tissue neoplasm; vascular tumors
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A cardiovascular cancer that is located_in blood v.. [+]A cardiovascular cancer that is located_in blood vessels.
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trachea leiomyoma
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leiomyoma of the Trachea; neoplasm of trachea (dis..
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leiomyoma of the Trachea; neoplasm of trachea (disorder); trachea neoplasm; tracheal neoplasm; Tracheal tumor
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n_a
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amyotrophic lateral sclerosis
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Lou Gehrig's disease; ALS; motor neuron disease, b..
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Lou Gehrig's disease; ALS; motor neuron disease, bulbar
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A motor neuron disease that is characterized by mu.. [+]A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.
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situs inversus
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Laterality sequence (disorder); Complete transposi..
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Laterality sequence (disorder); Complete transposition (morphologic abnormality); situs inversus viscerum (disorder)
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n_a
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retina lymphoma
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Lymphoma of retina (disorder); Retinal Lymphoma
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n_a
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biotinidase deficiency
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Late-onset multiple carboxylase deficiency; BTD de..
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Late-onset multiple carboxylase deficiency; BTD deficiency; deficiency of biotinidase (disorder); Juvenile-onset multiple carboxylase deficiency; deficiency of biotinidase
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A multiple carboxylase deficiency that involves a .. [+]A multiple carboxylase deficiency that involves a deficiency in biotinidase as the body is not able to use biotin and results in biotin deficiency, and has_material_basis_in homozygous or compound heterozygous mutation in the BTD gene on chromosome 3p25.
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fascioliasis
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Liver flukes NOS (disorder); Liver flukes; Liver f..
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Liver flukes; Liver flukes NOS (disorder); Liver flukes NOS; Fasciola hepatica infection (disorder); Infection by Fasciola (disorder); Sheep liver fluke infection; Fasciola hepatica infection; Infection by Fasciola
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A parasitic helminthiasis infectious disease that .. [+]A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Fasciola hepatica or Fasciola gigantica. During the acute phase, manifestations include abdominal pain, hepatomegaly, fever, vomiting, diarrhea, urticaria and eosinophilia. Occasionally, infection occurs in intestinal wall, lungs, subcutaneous tissue, and pharyngeal mucosa.
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aggressive NK-cell leukemia
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large granular Lymphocyte Leukemia, NK-cell type; ..
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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; B-cell chronic lymphoc..
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lymphoplasmacytic leukemia; B-cell chronic lymphocytic leukemia; B-cell chronic lymphoid leukemia; chronic lymphatic leukemia; CLL
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A lymphoblastic leukemia characterized by over pro.. [+]A lymphoblastic 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..
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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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Fanconi syndrome
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Lignac-Fanconi syndrome; adult Fanconi Anemia; adu..
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Lignac-Fanconi syndrome; adult Fanconi Anemia; adult Fanconi syndrome; Congenital Fanconi syndrome (disorder); De Toni-Fanconi syndrome; deToni Fanconi syndrome; Fanconi-de Toni syndrome; Fanconi-de-Toni syndrome; Infantile nephropathic cystinosis
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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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esophagus lymphoma
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Lymphoma of esophagus
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n_a
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gingival recession
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localized gingival recession (disorder); localized..
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localized gingival recession (disorder); localized gingival recession; Gingival recession; Gingival recession (disorder); Gingival recession NOS (disorder); Gingival recession, localized; Gingival recession, unspecified; minimal gingival recession; moderate gingival recession; severe gingival recession
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n_a
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paranasal sinus lymphoma
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lymphoma of paranasal sinus; Lymphoma of Accessory..
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lymphoma of paranasal sinus; Lymphoma of Accessory sinus
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n_a
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hypolipoproteinemia
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Lipoprotein deficiencies; Hypolipoproteinaemia (di..
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Lipoprotein deficiencies; Hypolipoproteinaemia (disorder)
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n_a
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Norum disease
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LECITHIN CHOLESTEROL ACYLTRANSFERASE DEFICIENCY; L..
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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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lung echinococcus granulosus (disorder); lung echi..
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lung echinococcus granulosus (disorder); lung echinococcus granulosus; Liver echinococcus granulosus (disorder); 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; Echinococcus granulosus infectious disease of liver (disorder); echinococcus granulosus infectious disease of thyroid; Thyroid echinococcus granulosus (disorder); unilocular echinococcosis; unilocular hydatid disease; Unspecified echinococcus granulosus (disorder)
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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..
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liver echinococcus; Liver echinococcus unspecified (disorder); echinococcal disease; Echinococcosis of liver (disorder); Echinococcosis, unspecified, of liver; Echinococcosis, unspecified, of liver (disorder); hepatic echinococcosis; hydatid disease; hydatidosis; pulmonary echinococcosis; Echinococcosis of liver
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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..
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lung involvement in systemic sclerosis; lung disease with systemic sclerosis (disorder); lung disease with systemic sclerosis
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n_a
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congenital ichthyosiform erythroderma
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lamellar ichthyosis; Lamellar desquamation of the ..
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lamellar ichthyosis; Lamellar desquamation of the newborn; Alligator skin; Congenital non bullous ichthyosiform erythroderma; Ichthyosiform erythroderma; nonbullous congenital ichthyosiform erythroderma
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n_a
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small intestine leiomyoma
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leiomyoma, small Bowel
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n_a
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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); acid beta-glu..
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lipoid histiocytosis (kerasin type); acid beta-glucosidase deficiency; Gaucher disease; glocucerebrosidase deficiency; glucosylceramide beta-glucosidase deficiency; kerasin thesaurismosis
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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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n_a
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factor V deficiency
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Labile factor deficiency; deficiency, labile; Here..
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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 characterised by seiz.. [+]An epilepsy syndrome that is characterised 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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spondylosis
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Lumbar spondylosis with myelopathy; lumbosacral sp..
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Lumbar spondylosis with myelopathy; lumbosacral spondylosis without myelopathy; Lumbar spondylosis with myelopathy (disorder); Spondylogenic compression of lumbar spinal cord; Spondylogenic compression of thoracic spinal cord; spondylosis with myelopathy; Spondylosis with myelopathy (disorder); Thoracic or lumbar 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; ..
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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..
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localized benign fibrous Mesothelioma; fibrous mesothelioma, benign (morphologic abnormality)
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n_a
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nodular tenosynovitis
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localized Giant cell tumor of Tenosynovium; benign..
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localized Giant cell tumor of Tenosynovium; benign synovioma; benign tumor of Synovium; Synovioma, benign (morphologic abnormality)
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n_a
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glycogen storage disease II
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Lysosomal alpha-1,4-glucosidase deficiency (disord..
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Lysosomal alpha-1,4-glucosidase deficiency (disorder); acid maltase deficiency; deficiency of glucoamylase; deficiency of maltase; Generalized glycogenosis (disorder); glycogen storage disease type II; Glycogen storage disease, type II (disorder); Glycogenosis, type 2; Pompe's disease
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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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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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gallbladder cancer
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localized malignant gallbladder neoplasm; gallblad..
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localized malignant gallbladder neoplasm; gallbladder Ca; gallbladder neoplasm; malignant neoplasm of gallbladder; malignant tumor of the gallbladder; 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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Pelizaeus-Merzbacher disease
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Leukodystrophy, sudanophilic; diffuse familial bra..
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Leukodystrophy, sudanophilic; diffuse familial brain sclerosis; HLD1; hypomyelinating leukodystrophy 1; Pelizaeus Merzbacher brain sclerosis; Pelizaeus-Merzbacher brain sclerosis; PMD; sudanophilic leukodystrophy, Paelizeus-Merzbacher type
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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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gangliosidosis GM1
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Landing syndrome; Beta-galactosidase deficiency; b..
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Landing syndrome; Beta-galactosidase deficiency; beta-Galactosidase deficiency; deficiency of beta-galactosidase (disorder); GM1 gangliosidosis (disorder); GM>1< gangliosidosis (disorder)
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n_a
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bone Ewing's sarcoma
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localized Skeletal Ewing's sarcoma; bone Ewing sar..
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localized Skeletal Ewing's sarcoma; bone Ewing sarcoma; bone Ewing's sarcoma; bone localized Ewing sarcoma; bone localized Ewing's sarcoma; Ewing's sarcoma of bone; Ewing's sarcoma/bone peripheral primitive neuroectodermal tumor; Skeletal Ewing's 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 peripheral primitive neuroectodermal tum..
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localized peripheral primitive neuroectodermal tumor; localized Ewing's tumor; localized Ewing's sarcoma/peripheral primitive neuroectodermal tumor; localized Ewing's sarcoma; localized Ewing sarcoma; Ewing's family localized tumor; Ewing's sarcoma/peripheral primitive neuroectodermal tumor; Ewing's tumor; Ewings sarcoma; Ewings sarcoma-primitive neuroectodermal tumor; peripheral primitive neuroectodermal tumor; PNET of Thoracopulmonary Region
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A bone cancer that has_material_basis in neural cr.. [+]A bone 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..
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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..
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lysosomal beta-mannosidase deficiency; Beta-D-mannosidosis (disorder); beta-mannosidase deficiency; Beta-D-mannosidosis
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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..
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Lymphocytic pseudotumor of lung; granuloma, plasma cell, pulmonary; Sclerosing hemangiocytoma of lung
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n_a
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pleural empyema
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lung empyema; abscess of pleural cavity; abscess o..
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lung empyema; abscess of pleural cavity; abscess of thorax; empyema; Empyema (& pleural); Empyema of pleura; Empyema of pleura without fistula; empyema with fistula; Empyema with fistula (& pleural); Empyema with no fistula; Empyema with pleural fistula; Empyema without mention of fistula; Empyema, chest; Pleural empyema with fistula; pleural empyema with no fistula; Purulent pleurisy; purulent pleuritis; pyothorax; Thorax abscess
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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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