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 onset of severe muscle weakness apparent at birth and sometimes in utero and that has_material_basis_in homozygous mutation in the MYL1 gene on chromosome 2q32. Affected infants have difficulty breathing independently and usually require mechanical ventilation for variable lengths of time. (DO)
Synonyms:
exact_synonym:
CMYO14; CMYP14; Congenital Myopathy with Fast-Twitch (Type ii) Fiber Atrophy; MYL1-RELATED CONDITION; MYOFTA; congenital myopathy with reduced type 2 muscle fibers
ClinVar Annotator: match by term: Congenital myopathy with reduced type 2 muscle fibers | ClinVar Annotator: match by term: MYL1-related condition | ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY
ClinVar Annotator: match by term: Congenital myopathy with reduced type 2 muscle fibers | ClinVar Annotator: match by term: MYL1-related condition | ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY
ClinVar Annotator: match by term: Congenital myopathy with reduced type 2 muscle fibers | ClinVar Annotator: match by term: MYL1-related condition | ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY
ClinVar Annotator: match by term: Congenital myopathy with reduced type 2 muscle fibers | ClinVar Annotator: match by term: MYL1-related condition | ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY
ClinVar Annotator: match by term: Congenital myopathy with reduced type 2 muscle fibers | ClinVar Annotator: match by term: MYL1-related condition | ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY
ClinVar Annotator: match by term: Congenital myopathy with reduced type 2 muscle fibers | ClinVar Annotator: match by term: MYL1-related condition | ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY
ClinVar Annotator: match by term: Congenital myopathy with reduced type 2 muscle fibers | ClinVar Annotator: match by term: MYL1-related condition | ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY
ClinVar Annotator: match by term: Congenital myopathy with reduced type 2 muscle fibers | ClinVar Annotator: match by term: MYL1-related condition | ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY
ClinVar Annotator: match by term: Congenital myopathy with reduced type 2 muscle fibers | ClinVar Annotator: match by term: MYL1-related condition | ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY
ClinVar Annotator: match by term: MYL1-related condition | ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY ClinVar Annotator: match by term: Congenital myopathy with reduced type 2 muscle fibers
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