OBO ID: DOID:0060346 |
Term Name: | Native American myopathy | Search Ontology: | |
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Definition: | A congenital myopathy that is 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 | ||
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Ontology: | Human Disease ( DOID:0060346 ) |
OTHER Native American myopathy PAGES
ZEBRAFISH MODELS
Fish | Conditions | Citations |
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stac3mi34/mi34 | control | Linsley et al., 2017 |
PHENOTYPE
No data available
CITATIONS (2)
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