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Experimental Factor Ontology
Last uploaded:
January 16, 2025
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| Id | http://www.ebi.ac.uk/efo/EFO_0005815
http://www.ebi.ac.uk/efo/EFO_0005815
|
|---|---|
| Preferred Name | tauopathy |
| 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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| Synonyms |
tauopathy
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition_citation | http://europepmc.org/abstract/MED/25495175 DOID:680 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. |
| preferred label |
tauopathy
|
| label |
tauopathy
|
| prefLabel |
tauopathy
|
| exactMatch | |
| database_cross_reference |
MEDGEN:181880
MONDO:0005574
MESH:D024801
UMLS:C0949664
DOID:680
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| notation |
EFO:0005815
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| in_subset | |
| id |
EFO:0005815
|
| subClassOf | |
| type | |
| has_exact_synonym |
tauopathy
|
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