Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
go back to main search page
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


show annotations for term's descendants           Sort by:
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
ISS		 DNA:mutations:cds:
CTD Direct Evidence: marker/mechanism
OMIM:608030
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 6, autosomal recessive | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 6		 OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:9536098 PMID:12840784 PMID:12858291 PMID:16199547 PMID:17576681 More... RGD:9685712 NCBI chr 1:182,576,479...182,590,417
Ensembl chr 1:182,576,545...182,590,414 		JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 6 ClinVar PMID:30103325 NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Diseases of the Aged 1472
      dementia 874
        Frontotemporal Lobar Degeneration 172
          frontotemporal dementia 169
            amyotrophic lateral sclerosis type 6 2
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        central nervous system disease 12430
          brain disease 11668
            disease of mental health 8318
              cognitive disorder 2303
                dementia 874
                  Frontotemporal Lobar Degeneration 172
                    frontotemporal dementia 169
                      amyotrophic lateral sclerosis type 6 2
paths to the root