loading...| Preferred Name |
tauopathy |
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| Synonyms |
tauopathy |
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| Definitions |
Tauopathies are heterogeneous neurodegenerative diseases characterized by the deposition of abnormal tau protein in the brain. Neurodegenerative disorders involving deposition of abnormal tau protein isoforms (tau proteins) in neurons and glial cells in the brain. Pathological aggregations of tau proteins are associated with mutation of the tau gene on chromosome 17 in patients with alzheimer disease; dementia; parkinsonian disorders; progressive supranuclear palsy (supranuclear palsy, progressive); and corticobasal degeneration. |
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| ID |
http://www.ebi.ac.uk/efo/EFO_0005815 |
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| database_cross_reference |
UMLS:C0949664 MONDO:0005574 DOID:680 MESH:D024801 |
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| definition |
Tauopathies are heterogeneous neurodegenerative diseases characterized by the deposition of abnormal tau protein in the brain. Neurodegenerative disorders involving deposition of abnormal tau protein isoforms (tau proteins) in neurons and glial cells in the brain. Pathological aggregations of tau proteins are associated with mutation of the tau gene on chromosome 17 in patients with alzheimer disease; dementia; parkinsonian disorders; progressive supranuclear palsy (supranuclear palsy, progressive); and corticobasal degeneration. |
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| definition_citation |
http://europepmc.org/abstract/MED/25495175 DOID_680 DOID:680 |
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| exactMatch |
http://linkedlifedata.com/resource/umls/id/C0949664 |
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| has_exact_synonym |
tauopathy |
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| id |
EFO:0005815 |
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| label |
tauopathy |
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| notation |
EFO:0005815 |
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| preferred label |
tauopathy |
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| prefLabel |
tauopathy |
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| subClassOf |