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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:congenital myopathy 5
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Accession:DOID:0081341 term browser browse the term
Definition:A congenital myopathy that is characterized by the onset of muscle weakness in infancy manifest as neonatal hypotonia, delayed motor development, and often distal contractures and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding titin (TTN) on chromosome 2q31. (DO)
Synonyms:exact_synonym: CMYP5;   Congenital Myopathy 5 with Cardiomyopathy;   EOMFC;   Early-Onset Myopathy with Fatal Cardiomyopathy;   SALMY;   Salih Cmd;   Salih Congenital Muscular Dystrophy;   Salih Myopathy
 primary_id: MESH:C567129
 alt_id: DOID:9006785;   OMIM:611705
 xref: ORDO:289377


show annotations for term's descendants           Sort by:
congenital myopathy 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bap1 Brca1 associated protein 1 ISO ClinVar Annotator: match by term: CONGENITAL MYOPATHY 5 WITH CARDIOMYOPATHY ClinVar PMID:25741868 PMID:25787093 PMID:28062663 PMID:28492532 NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535 		JBrowse link
G Dysf dysferlin ISO ClinVar Annotator: match by term: Salih Myopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:116,490,877...116,690,709
Ensembl chr 4:116,490,616...116,690,709 		JBrowse link
G Ndufa9 NADH:ubiquinone oxidoreductase subunit A9 ISO ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr 4:159,659,242...159,688,034
Ensembl chr 4:159,659,242...159,688,018 		JBrowse link
G Ttn titin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CONGENITAL MYOPATHY 5 WITH CARDIOMYOPATHY | ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy | ClinVar Annotator: match by term: Salih Myopathy		 OMIM
CTD
ClinVar		 PMID:1745277 PMID:9536098 PMID:9804419 PMID:10053013 PMID:10462489 More... NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18248
      cardiovascular system disease 5413
        heart disease 3328
          cardiomyopathy 1309
            congenital myopathy 5 4
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18248
      nervous system disease 14089
        peripheral nervous system disease 4120
          neuropathy 3904
            neuromuscular disease 3059
              muscular disease 2147
                muscle tissue disease 1293
                  myopathy 1007
                    congenital myopathy 239
                      congenital myopathy 5 4
paths to the root