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.
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)
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 CTD Direct Evidence: marker/mechanism