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 21
go back to main search page
Accession:DOID:0060212 term browser browse the term
Definition:An amyotrophic lateral sclerosis that has_material_basis_in mutation in the MATR3 gene on chromosome 5. (DO)
Synonyms:exact_synonym: ALS21;   AMYOTROPHIC LATERAL SCLEROSIS 21;   Distal Myopathy with Vocal Cord Weakness;   Matrin 3 Distal Myopathy;   Mpd2;   Myopathia Distalis Type 2;   VCPDM;   amyotropic lateral sclerosis 21;   distal myopathy 2;   distal myopathy with vocal cord and pharyngeal signs;   vocal cord and pharyngeal dysfunction with distal myopathy;   vocal cord and pharyngeal weakness with distal myopathy
 primary_id: MESH:C565262
 alt_id: OMIM:606070
 xref: NCI:C168755

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
amyotrophic lateral sclerosis type 21 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Matr3 matrin 3 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 21 | ClinVar Annotator: match by term: Myopathy, distal, 2 OMIM
ClinVar		 PMID:9536098 PMID:9837826 PMID:17576681 PMID:19344878 PMID:24686783 More... NCBI chrNW_004955418:1,213,503...1,269,755
Ensembl chrNW_004955418:1,213,503...1,269,746 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    Stomatognathic Diseases 1241
      Pharyngeal Diseases 252
        amyotrophic lateral sclerosis type 21 1
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        peripheral nervous system disease 3824
          neuropathy 3643
            neuromuscular disease 2847
              muscular disease 2000
                muscle tissue disease 1199
                  myopathy 929
                    muscular dystrophy 554
                      distal myopathy 28
                        amyotrophic lateral sclerosis type 21 1
paths to the root