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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 6
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Accession:DOID:0060198 term browser browse the term
Definition:An amyotrophic lateral sclerosis that has_material_basis_in mutation in the FUS gene on chromosome 16. (DO)
Synonyms:exact_synonym: ALS6;   amyotrophic lateral sclerosis 6;   amyotrophic lateral sclerosis 6, with or without frontotemporal dementia;   autosomal recessive amyotrophic lateral sclerosis 6
 broad_synonym: FUS-RELATED CONDITION
 primary_id: MESH:C538251
 alt_id: MESH:C567699;   OMIM:608030
 xref: GARD:9874;   NCI:C168750

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amyotrophic lateral sclerosis type 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fus FUS RNA binding protein ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 6, autosomal recessive | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 6 OMIM
ClinVar		 PMID:9536098 PMID:12840784 PMID:12858291 PMID:16199547 PMID:17576681 More... NCBI chrNW_004936501:13,529,732...13,541,102
Ensembl chrNW_004936501:13,529,803...13,540,764 		JBrowse link
G Vcp valosin containing protein ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 6 ClinVar PMID:30103325 NCBI chrNW_004936524:3,085,959...3,102,461
Ensembl chrNW_004936524:3,085,500...3,102,466 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Diseases of the Aged 1181
      dementia 801
        Frontotemporal Lobar Degeneration 163
          frontotemporal dementia 160
            amyotrophic lateral sclerosis type 6 2
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      nervous system disease 12341
        central nervous system disease 11056
          brain disease 10378
            disease of mental health 7458
              cognitive disorder 1996
                dementia 801
                  Frontotemporal Lobar Degeneration 163
                    frontotemporal dementia 160
                      amyotrophic lateral sclerosis type 6 2
paths to the root