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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:amyotrophic lateral sclerosis type 22
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Accession:DOID:0060355 term browser browse the term
Definition:An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TUBA4A gene on chromosome 2q35. (DO)
Synonyms:exact_synonym: ALS 22;   ALS22;   amyotrohpic lateral sclerosis 22 with or without frontotemporal dementia;   amyotrophic lateral sclerosis 22;   amyotrophic lateral sclerosis 22 with frontotemporal dementia;   amyotrophic lateral sclerosis 22 with or without frontotemporal dementia
 primary_id: OMIM:616208
 alt_id: RDO:9001187

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amyotrophic lateral sclerosis type 22 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tuba4a tubulin alpha 4a ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 22 with frontotemporal dementia | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 22 OMIM
ClinVar		 PMID:25374358 PMID:25741868 NCBI chrNW_004955453:14,177,043...14,180,814
Ensembl chrNW_004955453:14,175,866...14,182,023 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14194
    Diseases of the Aged 1162
      dementia 783
        Frontotemporal Lobar Degeneration 159
          frontotemporal dementia 156
            amyotrophic lateral sclerosis type 22 1
Path 2
Term Annotations click to browse term
  disease 14194
    disease of anatomical entity 13849
      nervous system disease 12113
        central nervous system disease 10883
          brain disease 10217
            disease of mental health 7342
              cognitive disorder 1969
                dementia 783
                  Frontotemporal Lobar Degeneration 159
                    frontotemporal dementia 156
                      amyotrophic lateral sclerosis type 22 1
paths to the root