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 nemaline myopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the ACTA1 gene on chromosome 1q42. (DO)
Synonyms:
exact_synonym:
NEM3; NEM3 MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS,; Nemaline myopathy 3, autosomal dominant or recessive; nemaline myopathy caused by mutation in the alpha-actin gene
narrow_synonym:
MYOPATHY, ACTIN, CONGENITAL, WITH CORES; NEMALINE MYOPATHY 3, WITH INTRANUCLEAR RODS
ClinVar Annotator: match by synonym: Myopathy, actin, congenital, with cores ClinVar Annotator: match by term: Nemaline myopathy 3, autosomal dominant or recessive ClinVar Annotator: match by term: Nemaline myopathy caused by mutation in the alpha-actin gene