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 characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in MEGF10 on chromosome 5q23.2. (DO)
Synonyms:
exact_synonym:
EMARDD; Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset; Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset, Mild Variant
ClinVar Annotator: match by OMIM:614399 ClinVar Annotator: match by synonym: Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant ClinVar Annotator: match by term: Myopathy, areflexia, respiratory distress, and dysphagia, early-onset ClinVar Annotator: match by term: Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant