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oculopharyngodistal myopathy 2
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DOID_0081298 |
[An oculopharyngodistal myopathy that is characterized by onset of distal muscle weakness, mainly of the lower limbs, and/or ophthalmoplegia in the second or third decades of life, and that has_material_basis_in heterozygous trinucleotide repeat expansion (GGC(n)) in the 5-prime untranslated region (UTR) of the GIPC1 gene on chromosome 19p13.] |
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chronic traumatic encephalopathy
|
DOID_0081291 |
[A tauopathy that is characterized by an abundance of hyperphosphorylated tau protein in neurons, astrocytes and cell processes around blood vessels and that is associated with repetitive head impacts or exposure to blast waves.] |
|
tauopathy
|
DOID_680 |
[A neurodegenerative disease that has_material_basis_in the pathological aggregation of tau protein in so-called neurofibrillary tangles (NFT) in the human brain.] |
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traumatic brain injury
|
DOID_0081292 |
[A brain disease that is characterized by brain dysfunction caused by an outside force, usually a violent blow to the head.] |
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salivary gland mucoepidermoid carcinoma
|
DOID_0081293 |
[A mucoepidermoid carcinoma located_in the salivary gland.] |
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salivary gland carcinoma
|
DOID_0050904 |
[A salivary gland cancer that has_material_basis_in epithelial cells.] |
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neuronal intranuclear inclusion disease
|
DOID_0081294 |
[A neurodegenerative disease that is characterized by a wide range of clinical manifestations, including pyramidal and extrapyramidal symptoms, cerebellar ataxia, cognitive decline and dementia, peripheral neuropathy, and autonomic dysfunction, and that has_material_basis_in heterozygous repeat expansion (CGG) in the 5-prime untranslated region of the NOTCH2NLC gene on chromosome 1q21.] |
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granular cell carcinoma
|
DOID_4903 |
[A carcinoma that derives_from epithelial cells, with polygonal accumulation of secondary lysosomes in the cytoplasm.] |
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appendix cancer
|
DOID_11239 |
[A intestinal cancer that is located_in the appendix.] |
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pancreatic carcinoma
|
DOID_4905 |
[A pancreas cancer that derives_from epithelial cells located_in the exocrine pancreas.] |
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malignant exocrine pancreas neoplasm
|
DOID_1795 |
[A pancreatic cancer that arises from the epithelial cells of the exocrine pancreatic tissue.] |
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obsolete intestinal type carcinoma
|
DOID_4904 |
|
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small intestine carcinoma
|
DOID_4907 |
[A small intestine cancer that develops from epithelial cells and is located_in the small intestine.] |
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small intestine adenocarcinoma
|
DOID_4906 |
[A small intestine carcinoma that derives_from epithelial cells of glandular origin.] |
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anal carcinoma
|
DOID_4908 |
[A anus cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the anus.] |
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anus cancer
|
DOID_14110 |
[A large intestine cancer that is located_in the anus.] |
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co-trimoxazole
|
CHEBI_3770 |
|
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Rickettsia sibirica
|
NCBITaxon_35793 |
|
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Rickettsia sibirica subgroup
|
NCBITaxon_266068 |
|
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Rickettsia parkeri
|
NCBITaxon_35792 |
|