Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:Early-Onset Myopathy with Fatal Cardiomyopathy
go back to main search page
Accession:DOID:9006785 term browser browse the term
Synonyms:exact_synonym: EOMFC;   SALMY;   Salih Cmd;   Salih Congenital Muscular Dystrophy;   Salih Myopathy
 primary_id: MESH:C567129
 alt_id: OMIM:611705;   RDO:0015288;   RDO:0015923
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Early-Onset Myopathy with Fatal Cardiomyopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttn titin ISO ClinVar Annotator: match by OMIM:611705
ClinVar Annotator: match by term: Myopathy, early-onset, with fatal cardiomyopathy
ClinVar Annotator: match by term: Salih Myopathy
OMIM
ClinVar
PMID:1745277 PMID:9536098 PMID:9804419 PMID:10053013 PMID:10462489 More... NCBI chr 3:61,652,432...61,924,912 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      musculoskeletal system disease 6446
        muscular disease 1280
          Early-Onset Myopathy with Fatal Cardiomyopathy 1
Path 2
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      nervous system disease 12130
        peripheral nervous system disease 2557
          neuropathy 2354
            neuromuscular disease 1875
              muscular disease 1280
                Early-Onset Myopathy with Fatal Cardiomyopathy 1
paths to the root