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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:Early-Onset Myopathy with Fatal Cardiomyopathy
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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.


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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:9804419, PMID:10053013, PMID:10462489, PMID:11717165, PMID:12145747, PMID:12669942, PMID:15802564, PMID:17344846, PMID:17444505, PMID:18414213, PMID:18948003, PMID:19608031, PMID:20890277, PMID:21520333, PMID:21617319, PMID:21810661, PMID:22335739, PMID:22526018, PMID:23299917, PMID:23396983, PMID:23418287, PMID:23478172, PMID:23486992, PMID:23518707, PMID:23675308, PMID:23757202, PMID:23861362, PMID:23975875, PMID:24033266, PMID:24055113, PMID:24082139, PMID:24105469, PMID:24231549, PMID:24271327, PMID:24315344, PMID:24395473, PMID:24440382, PMID:24459294, PMID:24503780, PMID:24558114, PMID:24569025, PMID:24578547, PMID:24892279, PMID:24980681, PMID:25016126, PMID:25145518, PMID:25163546, PMID:25214167, PMID:25447171, PMID:25498755, PMID:25556389, PMID:25589632, PMID:25626705, PMID:25741868, PMID:25772186, PMID:25783436, PMID:25889363, PMID:25979592, PMID:26272908, PMID:26383259, PMID:26467025, PMID:26498160, PMID:26516846, PMID:26559152, PMID:26701604, PMID:26718681, PMID:27066507, PMID:27194543, PMID:27273923, PMID:27585509, PMID:27588451, PMID:27650965, PMID:27788187, PMID:27854218, PMID:27854229, PMID:27868399, PMID:27930701, PMID:28045975, PMID:28166282, PMID:28256728, PMID:28492532, PMID:28578331, PMID:28750076, PMID:28771489, PMID:28822653, PMID:28831623, PMID:28857138, PMID:29099038, PMID:29221435, PMID:29361395, PMID:29540445, PMID:29691892, PMID:29970176, PMID:30311386, PMID:30615648, PMID:30924900, PMID:30993396, PMID:31127727 NCBI chr 3:63,565,160...63,837,815 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      musculoskeletal system disease 5715
        muscular disease 1196
          Early-Onset Myopathy with Fatal Cardiomyopathy 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        peripheral nervous system disease 2472
          neuropathy 2293
            neuromuscular disease 1775
              muscular disease 1196
                Early-Onset Myopathy with Fatal Cardiomyopathy 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.