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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:frontotemporal dementia and/or amyotrophic lateral sclerosis 3
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Accession:DOID:0110068 term browser browse the term
Definition:An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SQSTM1 gene on chromosome 5q35. (DO)
Synonyms:exact_synonym: FTDALS3
 primary_id: MIM:616437


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19065
    Developmental Disease 14582
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13621
        genetic disease 13292
          frontotemporal dementia and/or amyotrophic lateral sclerosis 3 1
Path 2
Term Annotations click to browse term
  disease 19065
    disease of anatomical entity 18355
      nervous system disease 14221
        central nervous system disease 12556
          brain disease 11776
            disease of mental health 8368
              cognitive disorder 2306
                dementia 874
                  Frontotemporal Lobar Degeneration 172
                    frontotemporal dementia 169
                      Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 110
                        frontotemporal dementia and/or amyotrophic lateral sclerosis 3 1
paths to the root