loading...| Preferred Name | tauopathy | |
| 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 |
MEDGEN:181880 MONDO:0005574 MESH:D024801 UMLS:C0949664 DOID:680 |
|
| 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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| has_exact_synonym |
tauopathy |
|
| id |
EFO:0005815 |
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| in_subset | ||
| label |
tauopathy |
|
| notation |
EFO:0005815 |
|
| preferred label |
tauopathy |
|
| prefLabel |
tauopathy |
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| skos_exactMatch |
http://purl.obolibrary.org/obo/EFO_0005815 http://linkedlifedata.com/resource/umls/id/C0949664 http://identifiers.org/medgen/181880 |
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| subClassOf |