| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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mutilating palmoplantar keratoderma with periorificial keratotic plaques
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mutilating palmoplantar hyperkeratosis with perior..
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mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; OLMS; Olmsted syndrome; palmoplantar and periorificial keratoderma
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A keratosis characterized by a bilateral mutilatin.. [+]A keratosis characterized by a bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe pruritus of lesions.
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mitochondrial type mitochondrial complex I deficiency
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MC1DM
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A mitochondrial complex I deficiency that has_mate.. [+]A mitochondrial complex I deficiency that has_material_basis_in mutation in a gene in the mitochondrial genome.
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McLeod syndrome
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MLS; McLeod neuroacanthocytosis syndrome; McLeod t..
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McLeod neuroacanthocytosis syndrome; MLS; McLeod type neuroacanthocytosis; McLeod syndrome with or without chronic granulomatous disease; X-linked McLeod syndrome
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A neuroacanthocytosis characterized by absence of .. [+]A neuroacanthocytosis characterized by absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, compensated hemolysis, and involuntary movements that has_material_basis_in mutation in XK on chromosome Xp21.1.
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myofibrillar myopathy 10
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MFM10
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A myofibrillar myopathy characterized by onset of .. [+]A myofibrillar myopathy characterized by onset of muscle pain, cramping, and exercise fatigue in the first or second decades of life that has_material_basis_in homozygous or compound heterozygous mutation in the SVIL gene on chromosome 10p11.23.
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Mayer-Rokitansky-Kuster-Hauser syndrome
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MRKH syndrome; Rokitansky syndrome
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A syndrome characterized by aplasia of the uterus .. [+]A syndrome characterized by aplasia of the uterus and upper part of the vagina in patients with normal secondary sex characteristics and a 46,XX karyotype.
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Mayer-Rokitansky-Kuster-Hauser syndrome type 1
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MRKH syndrome type 1; congenital absence of uterus..
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MRKH syndrome type 1; congenital absence of uterus and vagina; Rokitansky sequence
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A Mayer-Rokitansky-Kuster-Hauser syndrome characte.. [+]A Mayer-Rokitansky-Kuster-Hauser syndrome characterized by isolated utero-vaginal atresia in patients with an otherwise normal 46 XX karyotype.
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Mayer-Rokitansky-Kuster-Hauser syndrome type 2
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MURCS; MURCS association; mullerian duct aplasia-r..
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MURCS association; MURCS; mullerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome; mullerian duct aplasia, unilateral renal aplasia, and cervicothoracic somite dysplasia; MRKH syndrome type 2; atypical MRKH syndrome
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A Mayer-Rokitansky-Kuster-Hauser syndrome characte.. [+]A Mayer-Rokitansky-Kuster-Hauser syndrome characterized by congenital aplasia of the uterus and upper two thirds of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects.
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mismatch repair cancer syndrome
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MMR deficiency; brain tumor-polyposis syndrome 1; ..
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MMR deficiency; brain tumor-polyposis syndrome 1; BTP1 syndrome; BTPS1; childhood cancer syndrome; CMMR-D syndrome; CMMRDS; constitutional mismatch repair deficiency syndrome; Turcot syndrome
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A syndrome characterized by predisposition for dev.. [+]A syndrome characterized by predisposition for development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers that has_material_basis_in homozygous or compound heterozygous mutation in the mismatch repair genes MLH1, MSH2, MSH6, or PMS2 on chromosomes 3p22.2, 2p21-p16, 2p16.3, and 7p22.1, respectively.
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multiple congenital anomalies-hypotonia-seizures syndrome 4
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MCAHS4; DEE77; developmental and epileptic encepha..
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MCAHS4; DEE77; developmental and epileptic encephalopathy 77; early infantile epileptic encephalopathy 77; glycosylphosphatidylinositol biosynthesis defect 19; GPIBD19
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A multiple congenital anomalies-hypotonia-seizures.. [+]A multiple congenital anomalies-hypotonia-seizures syndrome characterized by onset in the first months of life of refractory seizures and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the PIGQ gene on chromosome 16p13.3.
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microlissencephaly
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A lissencephaly characterized by lissencephaly in .. [+]A lissencephaly characterized by lissencephaly in combination with severe congenital microcephaly.
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multiple benign circumferential skin creases on limbs
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CCSF; circumferential skin creases, Kunze type; co..
[+]CCSF; circumferential skin creases, Kunze type; congenital circumferential skin folds; Kunze-Riehm syndrome
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A skin disease characterized by benign circumferen.. [+]A skin disease characterized by benign circumferential skin creases, mainly on the limbs, due to folding of excess skin.
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Mahvash Disease
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GCGR-related hyperglucagonemia; nesidioblastosis, ..
[+]GCGR-related hyperglucagonemia; nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor
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An endocrine pancreas disease characterized by pan.. [+]An endocrine pancreas disease characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and increased serum glucagon levels that has_material_basis_in homozygous or compound heterozygous inactivating mutation of the GCGR gene on chromosome 17q25.3.
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male infertility due to acephalic spermatozoa
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acephalic spermatozoa syndrome
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A spermatogenic failure characterized by male infe.. [+]A spermatogenic failure characterized by male infertility caused by a majority of spermatozoa lacking heads.
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male infertility due to globozoospermia
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globozoospermia syndrome
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A spermatogenic failure characterized by male infe.. [+]A spermatogenic failure characterized by male infertility caused by the majority of spermatozoa having round heads and acrosome defects.
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methemoglobinemia and ambiguous genitalia
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methemoglobinemia type IV; methemoglobinemia due t..
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methemoglobinemia type IV; methemoglobinemia due to deficiency of cytochrome b5; METAG; pure isolated 17,20-lyase deficiency
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A disorder of sexual development characterized by .. [+]A disorder of sexual development characterized by severely reduced 17,20-lyase activity of CYP17A1, sex steroid deficiency with no deficiency in glucocorticoid and mineralocorticoid reserves, absent or disturbed pubertal development, and mild to severe methemoglobinemia that has_material_basis_in homozygous or compound heterozygous mutation in the CYB5A gene on chromosome 18q22.3.
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muscular dystrophy-dystroglycanopathy
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MDDG; CMD due to dystroglycanopathy; congenital mu..
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MDDG; CMD due to dystroglycanopathy; congenital muscular dystrophy due to dystroglycanopathy
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A congenital muscular dystrophy characterized by m.. [+]A congenital muscular dystrophy characterized by muscular dystrophy resulting from defective glycosylation of dystroglycan.
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muscular dystrophy-dystroglycanopathy type B15
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MDDGB15; congenital muscular dystrophy DPM3-relate..
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MDDGB15; congenital muscular dystrophy DPM3-related
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A muscular dystrophy-dystroglycanopathy type B tha.. [+]A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the DPM3 gene on chromosome 1q22.
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muscular dystrophy-dystroglycanopathy type B14
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MDDGB14; congenital muscular dystrophy GMPPB-relat..
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MDDGB14; congenital muscular dystrophy GMPPB-related
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A muscular dystrophy-dystroglycanopathy type B tha.. [+]A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPB gene on chromosome 3p21.31.
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muscular dystrophy-dystroglycanopathy type B3
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MDDGB3; congenital muscular dystrophy POMGNT1-rela..
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MDDGB3; congenital muscular dystrophy POMGNT1-related
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A muscular dystrophy-dystroglycanopathy type B tha.. [+]A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT1 gene on chromosome 1p34.1.
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muscular dystrophy-dystroglycanopathy type B4
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MDDGB4; congenital muscular dystrophy FKTN-related..
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MDDGB4; congenital muscular dystrophy FKTN-related
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A muscular dystrophy-dystroglycanopathy type B cha.. [+]A muscular dystrophy-dystroglycanopathy type B characterized by muscular dystropy resulting from impaired glycosylation of dystroglycan in the absence of intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the FKTN gene on chromosome 9q31.2.
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muscular dystrophy-dystroglycanopathy type B2
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MDDGB2; congenital muscular dystrophy POMT2-relate..
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MDDGB2; congenital muscular dystrophy POMT2-related
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A muscular dystrophy-dystroglycanopathy type B tha.. [+]A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3.
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muscular dystrophy-dystroglycanopathy type C12
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muscular dystrophy-dystroglycanopathy, limb-girdle..
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muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related; MDDGC12; LGMD due to POMK deficiency; Limb-girdle muscular dystrophy due to POMK deficiency
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A muscular dystrophy-dystroglycanopathy characteri.. [+]A muscular dystrophy-dystroglycanopathy characterized by limb-girdle congenital muscular dystrophy and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the POMK gene on chromosome 8p11.21.
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muscular dystrophy-dystroglycanopathy type C8
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muscular dystrophy-dystroglycanopathy, limb-girdle..
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muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related; muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8; MDDGC2; autosomal recessive limb-girdle muscular dystrophy 24; LGMDR24
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A muscular dystrophy-dystroglycanopathy characteri.. [+]A muscular dystrophy-dystroglycanopathy characterized by onset in childhood of a variable phrenotype that ranges from mild intellectual disability and gait abnormalities to asymptomatic that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT2 gene on chromosome 3p22.1.
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pericardium cancer
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malignant neoplasm of pericardium; malignant tumor..
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malignant neoplasm of pericardium; malignant tumor of Pericardium; Pericardial tumor
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n_a
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heart cancer
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malignant neoplasm of heart; malignant Cardiac tum..
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malignant neoplasm of heart; malignant Cardiac tumor; Tumour of heart; Cardiac tumor
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A cardiovascular cancer located_in the heart.
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vaginal cancer
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malignant tumor of vagina; malignant neoplasm of v..
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malignant tumor of vagina; malignant neoplasm of vagina; malignant vaginal tumor; malignant tumor of vagina (disorder); vagina neoplasm; neoplasm of vagina (disorder); neoplasm of vagina; vaginal tumor
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A female reproductive system cancer that is locate.. [+]A female reproductive system cancer that is located_in the vagina.
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female reproductive organ cancer
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malignant neoplasm of female genital organ; malign..
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malignant neoplasm of female genital organ; malignant Gynecologic tumor; female reproductive cancer
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A reproductive organ cancer that is manifested in .. [+]A reproductive organ cancer that is manifested in the female genitals. This includes organs such as the ovaries, fallopian tubes, uterus, cervix, vagina and vulva.
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2 articles
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vaginal carcinosarcoma
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malignant vaginal mixed epithelial and mesenchymal..
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malignant vaginal mixed epithelial and mesenchymal tumor; vaginal malignant mixed mesodermal (mullerian) tumor; vaginal malignant mixed Mullerian tumor; vaginal mixed epithelial and mesenchymal tumor
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A vaginal carcinoma that has_material_basis_in con.. [+]A vaginal carcinoma that has_material_basis_in connective tissue.
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cancer
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malignant neoplasm; malignant tumor; primary cance..
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malignant tumor; malignant neoplasm; primary cancer
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A disease of cellular proliferation that is malign.. [+]A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.
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140 articles
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93 matches
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endocrine gland cancer
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malignant tumour of endocrine gland; malignant neo..
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malignant tumour of endocrine gland; malignant neoplasm of endocrine gland; malignant Endocrine tumor; Endocrine tumor; neoplasm of endocrine gland (disorder); neoplasm of endocrine system (disorder); endocrine neoplasm; neoplasm of endocrine gland; neoplasm of endocrine system
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An organ system cancer located_in endocrine system.. [+]An organ system cancer located_in endocrine system that is characterized by uncontrolled cellular proliferation of the hormone producing glands of the endocrine system.
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9 articles
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11 matches
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vascular cancer
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malignant great vessel tumor; malignant vascular t..
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malignant great vessel tumor; malignant vascular tumor; malignant vascular neoplasm; malignant tumor of pulmonary Vein; malignant tumor of pulmonary artery; Blood Vessel neoplasm; blood vessel neoplasm; Blood vessel tumor (morphologic abnormality); Blood vessel tumour disorder; Haemangiomatous tumour; renal vein leiomyosarcoma; vascular tissue neoplasm; vascular tumors; Blood vessel tumors (morphologic abnormality); pulmonary artery malignant neoplasm; leiomyosarcoma of the renal Vein; pulmonary vein malignant neoplasm; Blood vessel tumors; Blood vessel tumor; neoplasm of great vessel
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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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bone cancer
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malignant osseous tumor; malignant neoplasm of bon..
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malignant osseous tumor; malignant neoplasm of bone; malignant bone tumour; malignant bone neoplasm; CA - bone cancer; osseous tumor; bone tumour; bone neoplasm; neoplasm of bone
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A connective tissue cancer that is located_in bone.. [+]A connective tissue cancer that is located_in bone and is characterized by uncontrolled cellular proliferation that destroys normal bone tissue.
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8 articles
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8 matches
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sex cord-gonadal stromal tumor
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malignant testicular sex cord-stromal tumor; Sex c..
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malignant testicular sex cord-stromal tumor; Sex cord stromal tumour; Sex Cord-Stromal tumor; Specialized gonadal neoplasm (morphologic abnormality); Specialized gonadal neoplasm NOS (morphologic abnormality); Specialized gonadal tumor (qualifier value); Sex cord-stromal tumor, no ICD-O subtype (morphologic abnormality); Sex Cord-Stromal neoplasm; Specialized gonadal neoplasm; Specialized gonadal tumor; Specialized gonadal tumour; sex cord-gonadal stromal tumour
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A reproductive organ cancer that is located_in the.. [+]A reproductive organ cancer that is located_in the sex cord-derived tissues of the ovary or testis and derives_from granulosa cells, Leydig cells, Sertoli cells, and fibroblasts.
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reproductive organ cancer
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malignant reproductive system neoplasm; Reproducti..
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malignant reproductive system neoplasm; Reproductive tumor; cancer of reproductive system
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An organ system cancer that is manifested in the r.. [+]An organ system cancer that is manifested in the reproductive organs.
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9 articles
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connective tissue cancer
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mesenchymal tissue malignant neoplasm; neoplasm of..
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mesenchymal tissue malignant neoplasm; neoplasm of connective tissues; Tumour of connective tissue; connective tissue neoplasm
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A musculoskeletal system cancer that is located_in.. [+]A musculoskeletal system cancer that is located_in connective tissue.
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8 articles
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8 matches
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hereditary multiple exostoses
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multiple ostechondromas; Multiple exostosis syndro..
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multiple ostechondromas; Multiple exostosis syndromes; Multiple congenital exostosis; hereditary multiple exostoses 1; hereditary multiple exostoses 2; Osteochondromatosis syndrome (disorder) [Ambiguous]; hereditary multiple exostoses 3; Osteochondromatosis syndrome
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An exostosis that has_material_basis_in a mutation.. [+]An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth.
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1 articles
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ascending colon cancer
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malignant tumor of ascending colon; malignant neop..
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malignant tumor of ascending colon; malignant neoplasm of right colon; malignant tumor of ascending colon (disorder); Ca ascending colon (disorder); Ca ascending colon
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n_a
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hepatic flexure cancer
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malignant neoplasm of hepatic flexure; malignant t..
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malignant neoplasm of hepatic flexure; malignant tumor of hepatic flexure; malignant tumor of hepatic flexure (disorder); Ca hepatic flexure - colon (disorder); Ca hepatic flexure - colon
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n_a
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transverse colon cancer
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malignant tumor of transverse colon; malignant tum..
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malignant tumor of transverse colon; malignant tumor of transverse colon (disorder); Ca transverse colon; Ca transverse colon (disorder)
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n_a
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kidney cancer
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malignant tumour of kidney; malignant neoplasm of ..
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malignant tumour of kidney; malignant neoplasm of kidney except pelvis; renal cancer
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A urinary system cancer that is located_in the kid.. [+]A urinary system cancer that is located_in the kidney.
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1 articles
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hemangiopericytoma
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malignant hemangiopericytoma; hemangiopericytoma, ..
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malignant hemangiopericytoma; hemangiopericytoma, malignant (morphologic abnormality); Haemangiopericytic meningioma [obs]; hemangiopericytoma, malignant; Haemangiopericytic meningioma
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A hemangiopericytic tumor that is a soft tissue sa.. [+]A hemangiopericytic tumor that is a soft tissue sarcoma and originates in the pericytes in the walls of capillaries.
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lacrimal gland cancer
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malignant tumour of lacrimal gland; malignant neop..
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malignant tumour of lacrimal gland; malignant neoplasm of lacrimal gland; neoplasm of lacrimal gland (disorder); neoplasm of lacrimal gland; tumor of the lacrimal gland
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n_a
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carcinoma
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malignant Epithelioma; epithelioma; epithelial can..
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malignant Epithelioma; epithelioma; epithelial cancer
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A cell type cancer that has_material_basis_in abno.. [+]A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
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11 articles
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20 matches
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early myoclonic encephalopathy
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myoclonic epilepsy; myoclonia epileptica; Myocloni..
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myoclonia epileptica; myoclonic epilepsy; Myoclonic seizure disorder; Myoclonic seizure; Epileptic seizures - myoclonic (disorder); Epileptic seizures, myoclonic; Epileptic seizures - myoclonic
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n_a
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spinal cord disease
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myelopathy
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n_a
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2 articles
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amyotrophic lateral sclerosis
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motor neuron disease, bulbar; Lou Gehrig's disease..
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motor neuron disease, bulbar; Lou Gehrig's disease; ALS
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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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3 articles
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uterine cancer
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malignant uterine tumor; malignant neoplasm of ute..
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malignant uterine tumor; malignant neoplasm of uterus; CA - cancer of uterus; Tumour of uterus; uterine tumor; uterus neoplasm; neoplasm of uterus
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A female reproductive organ cancer that is located.. [+]A female reproductive organ cancer that is located_in the uterus.
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1 articles
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pleomorphic adenoma
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mixed tumor of the Salivary gland; Pleomorphic ade..
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mixed tumor of the Salivary gland; Pleomorphic adenoma; Pleomorphic adenoma (morphologic abnormality)
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A gastrointestinal system benign neoplasm that is .. [+]A gastrointestinal system benign neoplasm that is a located_in the salivary glands.
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scrotum neoplasm
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malignant tumour of scrotum; malignant tumor of sc..
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malignant tumour of scrotum; malignant tumor of scrotum; malignant Scrotal neoplasm; malignant tumor of scrotum (disorder); neoplasm of scrotum (disorder); Scrotal tumor; scrotum cancer; Scrotal Ca; neoplasm of scrotum
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n_a
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jaw-winking syndrome
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Marcus-Gunn syndrome; Jaw-blinking; Pterygoid-leva..
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Marcus-Gunn syndrome; Jaw-blinking; Pterygoid-levator synkinesis; abnormal innervation syndrome of eyelid
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A cranial nerve disease characterized by unilatera.. [+]A cranial nerve disease characterized by unilateral congenital ptosis and rapid exaggerated elevation of the ptotic lid on moving of the lower jaw.
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