|OBO ID: DOID:0110633|
|Term Name:||rigid spine muscular dystrophy 1||Search Ontology:|
|Definition:||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. (3)|
|Ontology:||Human Disease (DOID:0110633)|
|is a type of:||
OTHER rigid spine muscular dystrophy 1 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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