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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Protein Aggregation, Pathological
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Accession:DOID:9001592 term browser browse the term
Definition:A biochemical phenomenon in which misfolded proteins aggregate either intra- or extracellularly. Triggered by factors such as MUTATION, POST-TRANSLATIONAL MODIFICATIONS, and environmental stress, it is generally associated with ALZHEIMER'S DISEASE; PARKINSON'S DISEASE; HUNTINGTON'S DISEASE; and TYPE 2 DIABETES MELLITUS.
Synonyms:primary_id: MESH:D066263;   RDO:0015993
For additional species annotation, visit the Alliance of Genome Resources.


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Protein Aggregation, Pathological term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29649360 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    Pathological Conditions, Signs and Symptoms 10235
      Pathologic Processes 6699
        Protein Aggregation, Pathological 1
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