| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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brachydactyly type E1
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BDE1
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A brachydactyly characterized by shortening of the.. [+]A brachydactyly characterized by shortening of the fingers,mainly in the metacarpals and metatarsals, that has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31.
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brachydactyly type A1B
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BDA1B
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A brachydactyly type A1 characterized by shortened.. [+]A brachydactyly type A1 characterized by shortened middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes but normal stature that has_material_basis_in variation in the chromosome region 5p13.3-p13.2.
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brachydactyly type B2
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BDB2
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A brachydactyly characterized by hypoplasia/aplasi.. [+]A brachydactyly characterized by hypoplasia/aplasia of distal phalanges, distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly that has_material_basis_in mutations in the NOG gene on chromosome 17q22.
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brachydactyly type E2
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BDE2
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A characterized byautosomal dominant inheritance o.. [+]A characterized byautosomal dominant inheritance of short stature, tooth abnormaities, and short metacarpals and metatarsals that has_material_basis_in heterozygous mutation in the PTHLH gene on chromosome 12p.
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brachydactyly type A1C
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BDA1C
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A brachydactyly type A1 has_material_basis_in homo.. [+]A brachydactyly type A1 has_material_basis_in homozygous or heterozygous mutation in the GDF5 gene on chromosome 20q11.
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brachydactyly type A1D
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BDA1D
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A brachydactyly type A1 that has_material_basis_in.. [+]A brachydactyly type A1 that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q22.
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Bernard-Soulier syndrome type A2
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BSSA2
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A Bernard-Soulier syndrome characterized by autoso.. [+]A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has_material_basis_in heterozygous mutations in the GP1BA gene on chromosome 17p.
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birdshot chorioretinopathy
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birdshot retinochoroidopathy; BSCR; birdshot retin..
[+]
BSCR; birdshot retinochoroidopathy; birdshot retinochoroiditis; birdshot chorioretinitis; vitiliginous choroiditis
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A posterior uveitis characterized by multiple smal.. [+]A posterior uveitis characterized by multiple small, hypopigmented, cream-colored choroidal lesions scattered symmetrically in the fundus primarily around the optic disc that presents in patients as blurred vision, floaters, photopsia, scotoma and nyctalopia.
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Boucher-Neuhauser syndrome
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ataxia-hypogonadism-choroidal dystrophy syndrome
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A syndrome characterized by spinocerebellar ataxia.. [+]A syndrome characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2.
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Behr syndrome
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BEHRS; Abortive cerebellar ataxia (BEHRS); optic a..
[+]
BEHRS; Abortive cerebellar ataxia (BEHRS); optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss; optic atrophy, infantile hereditary, Behr complicated form of
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A nervous system disease characterized by early-on.. [+]A nervous system disease characterized by early-onset optic atrophy, ataxia, pyramidal signs, spasticity, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the OPA1 gene on chromosome 3q29.
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B cell and dendritic cell deficiency
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A combined immunodeficiency characterized by impai.. [+]A combined immunodeficiency characterized by impaired function or reduced numbers of dendritic cells and B cells.
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Bosch-Boonstra-Schaaf optic atrophy syndrome
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BBSOAS; optic atrophy-intellectual disability synd..
[+]
BBSOAS; optic atrophy-intellectual disability syndrome
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A syndrome characterized by delayed development, m.. [+]A syndrome characterized by delayed development, moderate intellectual disability, and optic atrophy that has_material_basis_in heterozygous mutation in the NR2F1 gene on chromosome 5q15.
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brain small vessel disease 2
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BSVD2; porencephaly 2
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A brain small vessel disease characterized by dist.. [+]A brain small vessel disease characterized by disturbed vascular supply to the brain leading to cerebral degeneration, porencephaly, and hemiplegia, seizures, and intellectual disability with variable severity that has_material_basis_in heterozygous mutation in COL4A2 on chromosome 13q34.
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hematopoietic system disease
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blood disorder; Blood dyscrasia NOS; Blood disease..
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Blood dyscrasia NOS; blood disorder; Blood disease; disease of hematopoietic system; DISEASE OF THE BLOOD AND BLOOD-FORMING ORGANS; Hematological disease
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An immune system disease that has_material_basis_i.. [+]An immune system disease that has_material_basis_in hematopoietic cells.
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intestinal infectious disease
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bacterial enteritis
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An intestinal disease that involves intestinal inf.. [+]An intestinal disease that involves intestinal infection that has_material_basis_in viruses, bacteria, fungi and parasites.
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esophageal varix
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Bleeding oesophageal varices; Bleeding esophageal ..
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Bleeding oesophageal varices; Bleeding esophageal varices (disorder); Bleeding esophageal varices; esophageal varices; esophageal varices in disease classified elsewhere, with bleeding; esophageal varices with bleeding; esophageal varices with bleeding in disease EC (disorder); esophageal varices without bleeding; esophageal varices without bleeding (disorder); esophageal varices without mention of bleeding
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n_a
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vascular cancer
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Blood vessel tumour disorder; Blood vessel tumors ..
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Blood vessel tumour disorder; Blood vessel tumors (morphologic abnormality); Blood vessel tumor (morphologic abnormality); blood vessel neoplasm; Blood Vessel neoplasm; Haemangiomatous tumour; leiomyosarcoma of the renal Vein; 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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exostosis
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bone spur; bony outgrowth; orbital exostosis; oste..
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bony outgrowth; bone spur; orbital exostosis; osteophyte; swimmer's exostosis
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A hyperostosis that involves formation of new bone.. [+]A hyperostosis that involves formation of new bone on the surface of preexisting bone.
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hyperostosis
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bone hypertrophy; hypertrophy of bone; hypertrophy..
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bone hypertrophy; hypertrophy of bone; hypertrophy of bone (disorder); hypertrophy of bone (morphologic abnormality)
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A bone remodeling disease that results in an abnor.. [+]A bone remodeling disease that results in an abnormal growth of located_in bone.
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epididymis adenomatoid tumor
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benign Epididymal epithelial Mesothelioma; adenoma..
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benign Epididymal epithelial Mesothelioma; adenomatoid neoplasm of the epididymis
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n_a
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adenomatoid tumor
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benign localized epithelial Mesothelioma; adenomat..
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benign localized epithelial Mesothelioma; adenomatoid tumor (morphologic abnormality); adenomatoid tumor NOS (morphologic abnormality)
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n_a
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holocarboxylase synthetase deficiency
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Biotin-(propionyl-CoA-carboxylase) ligase deficien..
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Biotin-(propionyl-CoA-carboxylase) ligase deficiency (disorder); Multiple carboxylase deficiency - neonatal onset (disorder)
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A multiple carboxylase deficiency that involves a .. [+]A multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase.
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mitral valve prolapse
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Barlow's syndrome; floppy mitral valve; mitral lea..
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Barlow's syndrome; floppy mitral valve; mitral leaflet syndrome; myxomatous mitral valve prolapse; systolic click-murmur syndrome
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A mitral valve disease where one or both of the cu.. [+]A mitral valve disease where one or both of the cusps of the mitral valve bulge or collapse backward in the left atrium during systole.
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chronic lymphocytic leukemia
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B-cell chronic lymphoid leukemia; B-cell chronic l..
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B-cell chronic lymphoid leukemia; B-cell chronic lymphocytic leukemia; chronic lymphatic leukemia; CLL; lymphoplasmacytic leukemia
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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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pertussis
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bordetella infection; WC - Whooping cough; whoopin..
[+]
bordetella infection; WC - Whooping cough; whooping cough
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A commensal bacterial infectious disease that resu.. [+]A commensal bacterial infectious disease that results_in inflammation located_in respiratory tract, has_material_basis_in Bordetella pertussis, or has_material_basis_in Bordetella parapertussis, which produce toxins that paralyze the cilia of the respiratory epithelial cells. The infection is characterized by a prolonged, high-pitched, deeply indrawn breath (whoop).
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Diamond-Blackfan anemia
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Blackfan - Diamond syndrome; chronic constitutiona..
[+]
Blackfan - Diamond syndrome; chronic constitutional pure red cell anaemia
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A congenital hypoplastic anemia that is characteri.. [+]A congenital hypoplastic anemia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has_material_basis_insufficient levels of red blood cells due to bone marrow dysfunction.
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urinary schistosomiasis
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bladder Schistosomiasis; cystitis with bilharziasi..
[+]
bladder Schistosomiasis; cystitis with bilharziasis (disorder); Schistosoma haematobium (& vesical schistosomiasis); Schistosoma haematobium infection; Schistosoma Hematobium Infection; Schistosoma hematobium infectious disease; Schistosomiasis due to schistosoma haematobium; Schistosomiasis of bladder; Vesical schistosomiasis
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A schistosomiasis that involves parasitic infectio.. [+]A schistosomiasis that involves parasitic infection of the urinary tract caused by a digenetic trematode Schistosoma haematobium causing cystitis, ureteritis, fibrosis of the bladder and haematuria, which can progress to bladder cancer.
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cerebral degeneration
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Brain degeneration
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A brain disease that is characterized by loss of s.. [+]A brain disease that is characterized by loss of structure or function of neurons, including death of neurons and loss of brain tissue.
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geographic tongue
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benign migratory glossitis; Glossitis areata exfol..
[+]
benign migratory glossitis; Glossitis areata exfoliativa; Pityriasis linguae
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An atrophic glossitis that is characterized as an .. [+]An atrophic glossitis that is characterized as an inflammatory condition of the mucous membrane of the tongue, usually on the dorsal surface.
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lymphangioma
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benign lymphangioma (morphologic abnormality); Con..
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benign lymphangioma (morphologic abnormality); Congenital lymphangioma
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n_a
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supratentorial cancer
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Brain neoplasm, Supratentorial; malignant Supraten..
[+]
Brain neoplasm, Supratentorial; malignant Supratentorial tumor
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A brain cancer that is located_in the supratentori.. [+]A brain cancer that is located_in the supratentorial region.
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hyperuricemia
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Blood urate raized; (Blood urate raized) or (hyper..
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Blood urate raized; (Blood urate raized) or (hyperuricemia); uricacidemia
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An acquired metabolic disease that has_material_ba.. [+]An acquired metabolic disease that has_material_basis_in an abnormally high level of uric acid in the blood.
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Rubinstein-Taybi syndrome
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Broad Thumb-Hallux syndrome; proximal chromosome 1..
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Broad Thumb-Hallux syndrome; proximal chromosome 16p13.3 deletion syndrome; Rubinstein syndrome
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An autosomal dominant disease characterized by sho.. [+]An autosomal dominant disease characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes; additionally it can include eye abnormalities, heart and kidney defects, dental problems and obesity.
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pneumonic tularemia
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bronchopneumonic tularemia; Pneumonic tularaemia; ..
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bronchopneumonic tularemia; Pneumonic tularaemia; pulmonary tularemia; pulmonary tularemia [dup] (disorder)
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A tularemia that is located_in lungs. The bacteria.. [+]A tularemia that is located_in lungs. The bacteria are transmitted_by breathing dusts or aerosols containing the organisms. The infection has_symptom cough, has_symptom chest has_symptom pain, and has_symptom difficulty breathing.
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Glanzmann's thrombasthenia
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BDPLT2; deficiency of glycoprotein complex IIb-III..
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BDPLT2; deficiency of glycoprotein complex IIb-IIIa; deficiency of GP IIb-IIIa complex; deficiency of platelet fibrinogen receptor; Glanzmann thrombasthenia; Glycoprotein IIb/IIIa defect; platelet glycoprotein IIb-IIIa deficiency; platelet-type bleeding disorder 2; thrombasthenia of Glanzmann and Naegeli; Thrombocytasthenia
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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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kernicterus
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bilirubin encephalopathy
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A brain disease that is characterized by hyperbili.. [+]A brain disease that is characterized by hyperbilirubinemia-induced brain dysfunction.
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nevoid basal cell carcinoma syndrome
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basal cell nevus syndrome; Gorlin syndrome
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n_a
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hematologic cancer
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blood cancer; Hematologic malignancy; Hematologic ..
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blood cancer; Hematologic malignancy; Hematologic malignancy (disorder); Hematologic neoplasm (disorder); Hematological tumors; hematopoietic and lymphoid system tumor; hematopoietic cancer; hematopoietic neoplasm (morphologic abnormality); hematopoietic tumors; malignant hematopoietic neoplasm (morphologic abnormality); Hematologic neoplasm; hematopoietic neoplasm; malignant hematopoietic neoplasm
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An organ system cancer located in the hematologica.. [+]An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes.
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Wolffian duct adenoma
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benign mesonephroma; Mesonephric adenoma; Mesoneph..
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benign mesonephroma; Mesonephric adenoma; Mesonephroma, benign (morphologic abnormality); Wolffian duct adenoma; Mesonephroma, benign
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A reproductive organ benign neoplasm that derives_.. [+]A reproductive organ benign neoplasm that derives_from glandular epithelial cells and that is located_in the region of the Wolffian duct.
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ovarian Brenner tumor
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benign ovarian Brenner tumour; benign ovarian Bren..
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benign ovarian Brenner tumour; benign ovarian Brenner tumor; ovarian Brenner tumour
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An ovarian benign neoplasm that has_material_basis.. [+]An ovarian benign neoplasm that has_material_basis_in the surface epithelium of the ovary.
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myoepithelioma
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benign myoepithelioma; Myoepithelial adenoma; Myoe..
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benign myoepithelioma; Myoepithelial adenoma; Myoepithelial neoplasm
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A sweat gland neoplasm that is composed_of outgrow.. [+]A sweat gland neoplasm that is composed_of outgrowths of myoepithelial cells from a sweat gland.
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adult mesoblastic nephroma
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benign MEST; MEST; mixed epithelial and stromal tu..
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benign MEST; MEST; mixed epithelial and stromal tumour of kidney
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A mixed neoplasm that is seen mostly in early infa.. [+]A mixed neoplasm that is seen mostly in early infancy and that consists of classic and cellular (atypical) variants.
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myoma
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benign neoplasm of the Muscle
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n_a
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nodular tenosynovitis
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benign synovioma; benign tumor of Synovium; locali..
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benign tumor of Synovium; benign synovioma; localized Giant cell tumor of Tenosynovium; Synovioma, benign (morphologic abnormality)
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n_a
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glycogen storage disease IV
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Branching-transferase deficiency glycogenosis (dis..
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Branching-transferase deficiency glycogenosis (disorder); brancher deficiency glycogenosis; Amylopectinosis; deficiency of 1,4-alpha-glucan branching enzyme; Glycogen storage disease, type IV (disorder)
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n_a
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asthma
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bronchial hyperreactivity; chronic obstructive ast..
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bronchial hyperreactivity; chronic obstructive asthma; chronic obstructive asthma with acute exacerbation; chronic obstructive asthma with status asthmaticus; Exercise induced asthma; exercise-induced asthma
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A bronchial disease that is characterized by chron.. [+]A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.
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prostatic adenoma
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benign adenoma of prostate (disorder); benign aden..
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benign adenoma of prostate (disorder); benign adenoma of prostate; adenoma - prostate; adenoma of prostate; prostate adenoma
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n_a
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IgA glomerulonephritis
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Berger's IgA or IgG nephropathy; Focal Glomerulone..
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Berger's IgA or IgG nephropathy; Focal Glomerulonephritis; IGA glomerulonephritis; IgA nephropathy; primary 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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familial Mediterranean fever
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benign paroxysmal peritonitis
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An autoimmune disease characterized by recurrent e.. [+]An autoimmune disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.
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scleredema adultorum
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Buschke's scleredema
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A skin disease that is characterized by induration.. [+]A skin disease that is characterized by induration of the skin, especially of the neck and upper trunk, has_symptom skin hardening or stiffening, and is associated with infections (especially streptococcal), hematologic malignancies, diabetes, and adverse drug reactions.
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