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 muscular dystrophy characterized by intrasarcoplasmic aggregates of desmin resulting in spinal rigidity, abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SEPN1 gene on chromosome 1p36. (DO)
Synonyms:
exact_synonym:
CONGENITAL MUSCULAR DYSTROPHY WITH RIGID SPINE; Desmin-Related Myopathy With Mallory Bodies; Desmin-related myopathies with Mallory bodies; MDRS1; Minicore myopathy, severe classic form; Multicore myopathy, severe classic form; Multiminicore disease, severe classic form; Multiminicore/minicore/multicore disease; Muscular Dystrophy, Congenital, Eichsfeld Type; Muscular dystrophy, congenital, merosin positive with early spine rigidity; RSMD1; RSS; SEPN1-related myopathy; classic MmD; classic multiminicore disease; classic multiminicore myopathy; desmin-related myopathy with Mallory body-like inclusions; early-onset desmin-related myopathy; rigid spine syndrome
narrow_synonym:
Multi-minicore disease and atypical periodic paralysis
ClinVar Annotator: match by term: Multi-minicore disease and atypical periodic paralysis | ClinVar Annotator: match by term: Multiminicore/minicore/multicore disease