| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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sacrum chordoma
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A spinal chordoma that is located_in the sacrum.
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salivary gland carcinoma
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A salivary gland cancer that has_material_basis_in.. [+]A salivary gland cancer that has_material_basis_in epithelial cells.
[-]
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spindle epithelial tumor with thymus-like differentiation tumor
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SETTLE tumor
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A thyroid carcinoma that has_material_basis_in com.. [+]A thyroid carcinoma that has_material_basis_in compact bundles of long spindle epithelial cells that merge with tubulopapillary structures and/or mucinous glands.
[-]
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striated muscle rhabdoid tumor
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A muscle cancer that is located_in striated muscle.. [+]A muscle cancer that is located_in striated muscle and has_material_basis_in rhabdoid cells which are large cells with eccentrically located nuclei and abundant, eosinophilic cytoplasm.
[-]
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small intestine carcinoid neuroendocrine tumor
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intestinal carcinoid tumour
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A small intestine cancer that has_material_basis_i.. [+]A small intestine cancer that has_material_basis_in cells of the neuroendocrine system.
[-]
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sublingual gland adenoid cystic carcinoma
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A sublingual gland cancer that is characterized by.. [+]A sublingual gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ.
[-]
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spastic ataxia 2
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n_a
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spastic ataxia 3
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n_a
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spastic ataxia 4
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n_a
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spastic ataxia 5
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n_a
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spastic ataxia 7
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A spastic ataxia that is characterized by poor vis.. [+]A spastic ataxia that is characterized by poor visual acuity, cerebellar ataxia, dysarthria and pyramidal signs.
[-]
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spastic ataxia
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A hereditary ataxia that is characterized by early.. [+]A hereditary ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy.
[-]
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spinocerebellar ataxia type 1
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n_a
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spinocerebellar ataxia type 2
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n_a
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spinocerebellar ataxia type 6
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An autosomal dominant cerebellar ataxia that is ch.. [+]An autosomal dominant cerebellar ataxia that is characterized by progresive ataxia, has_material_basis_in mutation in the CACNA1A gene.
[-]
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spinocerebellar ataxia type 4
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n_a
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spinocerebellar ataxia type 7
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n_a
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spinocerebellar ataxia type 8
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An autosomal dominant cerebellar ataxia that is ch.. [+]An autosomal dominant cerebellar ataxia that is characterized by slowly progressive dysarthria, bradykinesia, nystagmus and loss of coordination, has_material_basis_in mutation in the ATXN80S gene.
[-]
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spinocerebellar ataxia type 10
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An autosomal dominant cerebellar ataxia that is ch.. [+]An autosomal dominant cerebellar ataxia that is characterized by gait ataxia, upper-limb ataxia, dysarthria and dysphagia, has_material_basis_in mutation in the ATXN10 gene.
[-]
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spinocerebellar ataxia type 11
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n_a
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spinocerebellar ataxia type 12
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n_a
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spinocerebellar ataxia type 13
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n_a
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spinocerebellar ataxia type 14
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An autosomal dominant cerebellar ataxia that is ch.. [+]An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria and dysphagia, has_material_basis_in mutation in the PRKCG gene.
[-]
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spinocerebellar ataxia type 15
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n_a
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spinocerebellar ataxia type 16
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n_a
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spinocerebellar ataxia type 17
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n_a
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spinocerebellar ataxia type 18
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n_a
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spinocerebellar ataxia type 19/22
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n_a
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spinocerebellar ataxia type 20
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An autosomal dominant cerebellar ataxia that is ch.. [+]An autosomal dominant cerebellar ataxia that is characterized by cerebellar dysarthria.
[-]
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spinocerebellar ataxia type 21
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n_a
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spinocerebellar ataxia type 23
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An autosomal dominnant cerebellar ataxia that is c.. [+]An autosomal dominnant cerebellar ataxia that is characterized by slowly progressive ataxia, dysarthria, slow saccades and hyperreflexia, has_material_basis_in mutation in the PDYN gene.
[-]
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spinocerebellar ataxia type 25
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n_a
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spinocerebellar ataxia type 26
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n_a
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spinocerebellar ataxia type 27
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n_a
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spinocerebellar ataxia type 28
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n_a
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spinocerebellar ataxia type 29
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An autosomal dominant cerebellar ataxia that is ch.. [+]An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, intellectual disability, dysarthria and ophthalmoplegia, and has_material_basis_in mutation in the ITPR1 gene.
[-]
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spinocerebellar ataxia type 30
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n_a
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spinocerebellar ataxia type 31
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n_a
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spinocerebellar ataxia type 34
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n_a
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spinocerebellar ataxia type 35
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n_a
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spinocerebellar ataxia type 36
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n_a
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spinocerebellar ataxia type 37
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n_a
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spinocerebellar ataxia type 38
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An autosomal dominant cerebellar ataxia that is ch.. [+]An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia and nystagmus, presenting in mid-adulthood, and has_material_basis_in mutation to the ELOVL5 gene.
[-]
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spinocerebellar ataxia type 40
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An autosomal dominant cerebellar ataxia that is ch.. [+]An autosomal dominant cerebellar ataxia that is characterized by progressive gait abnormalities, dysarthria, tremor and hyporeflexia, has_material_basis_in mutation in the CCDC88C gene.
[-]
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specific developmental disorder
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A developmental disorder of mental health that cat.. [+]A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination.
[-]
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sexual disorder
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A disease of mental health that involves the impai.. [+]A disease of mental health that involves the impairment in normal sexual functioning.
[-]
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sideroblastic anemia 1
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sideroblastic anaemia 1; XLSA; X-linked sideroblas..
[+]
sideroblastic anaemia 1; XLSA; X-linked sideroblastic anaemia; X-linked sideroblastic anemia
[-]
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A sideoblastic anemia that is characterized by the.. [+]A sideoblastic anemia that is characterized by the presence of microcytic hypochromic anemia and iron overload, and has_material_basis_in X-linked inheritance of mutation in the ALAS2 gene that enocdes aminolevulinic acid synthase that catalyzes the first step in heme production.
[-]
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sideroblastic anemia with spinocerebellar ataxia
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ASAT
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n_a
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sensory organ benign neoplasm
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A nervous system benign neoplasm that is located_i.. [+]A nervous system benign neoplasm that is located_in a sensory organ.
[-]
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sensory system cancer
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A nervous system cancer that is located_in the sen.. [+]A nervous system cancer that is located_in the sensory system.
[-]
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