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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: OMIM:606070
 xref: NCI:C168755


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 LOC126807526 CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:138657767-138658966 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 21
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 21 | ClinVar Annotator: match by term: Myopathy, distal, 2		 ClinVar PMID:9536098 PMID:17576681 PMID:24686783 PMID:25741868 PMID:25771394 More... NCBI chr 5:139,322,078...139,323,277 JBrowse link
G LOC129994755 ATAC-STARR-seq lymphoblastoid silent region 16407 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 21 ClinVar
G MATR3 matrin 3 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 21
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 21 | ClinVar Annotator: match by term: Myopathy, distal, 2
OMIM:606070
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:9536098 PMID:9837826 PMID:17576681 PMID:19344878 PMID:24686783 More... NCBI chr 5:139,274,101...139,331,677
Ensembl chr 5:139,273,752...139,331,671
Ensembl chr 5:139,273,752...139,331,671 		JBrowse link
G SNHG4 small nucleolar RNA host gene 4 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 21 ClinVar PMID:9536098 PMID:17576681 PMID:26493020 PMID:28492532 NCBI chr 5:139,274,101...139,284,900
Ensembl chr 5:139,274,102...139,284,899 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    Stomatognathic Diseases 1769
      Pharyngeal Diseases 284
        amyotrophic lateral sclerosis type 21 4
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        peripheral nervous system disease 5382
          neuropathy 5129
            neuromuscular disease 4041
              muscular disease 2807
                muscle tissue disease 1715
                  myopathy 1391
                    muscular dystrophy 849
                      distal myopathy 69
                        amyotrophic lateral sclerosis type 21 4
paths to the root