|OBO ID: DOID:0060346|
|Term Name:||Native American myopathy||Search Ontology:|
|Definition:||A neuromuscular disease characterized by congenital weakness, arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kykphoscoliosis, talipes deformities and susceptibility to malignant hyperthermia provoked by anesthesia and that has_material_basis_in homozygous mutation in the STAC3 gene on chromosome 12q13. https://www.ncbi.nlm.nih.gov/pubmed/18553514|
|Ontology:||Human Disease (DOID:0060346)|
|is a type of:||
OTHER Native American myopathy PAGES
PHENOTYPE No data available
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