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amyotrophic lateral sclerosis type 21 - Ontology Report - Rat Genome Database

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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 21
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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: MIM:606070
 xref: NCI:C168755

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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
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:606070
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 21 | ClinVar Annotator: match by term: Myopathy, distal, 2		 OMIM
CTD
MouseDO
ClinVar		 PMID:9536098 PMID:9837826 PMID:17576681 PMID:19344878 PMID:24686783 More... NCBI chr18:27,154,098...27,193,212
Ensembl chr18:27,163,714...27,193,166 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    Stomatognathic Diseases 1373
      Pharyngeal Diseases 261
        amyotrophic lateral sclerosis type 21 1
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      nervous system disease 14363
        peripheral nervous system disease 4397
          neuropathy 4185
            neuromuscular disease 3226
              muscular disease 2233
                muscle tissue disease 1357
                  myopathy 1049
                    muscular dystrophy 654
                      distal myopathy 35
                        amyotrophic lateral sclerosis type 21 1
paths to the root