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 myofibrillar myopathy characterized by adult onset of slowly progressive muscle weakness involving the diaphragm and resulting in respiratory insufficiency that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31. (DO)
Synonyms:
exact_synonym:
Edstrom Myopathy; HIBM-ERF; HMERF; Hereditary Myopathy with Early Respiratory Failure; MFM-titinopathy; MFM9; MPRM; Myofibrillar Myopathy 9 with Early Respiratory Failure; distal myopathy with early respiratory failure, autosomal dominant; hereditary inclusion body myopathy with early respiratory failure; myofibrillar myopathy-titinopathy; proximal myopathy with early respiratory muscle involvement
ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure
ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT | ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant
ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure
ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT | ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure
ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure
ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure
ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure
ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure
ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant
ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure
ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure
ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure
ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant
ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure
ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure
ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure
ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant
ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT | ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure ClinVar Annotator: match by term: EDSTROM MYOPATHY | ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT | ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, MYOFIBRILLAR, 9, WITH EARLY RESPIRATORY FAILURE | ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT | ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT
ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT | ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT | ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT | ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure ClinVar Annotator: match by term: EDSTROM MYOPATHY
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