Search Ontology:
Human Disease

Native American myopathy

Term ID
DOID:0060346
Synonyms
  • Bailey-Bloch congenital myopathy
  • congenital myopathy 13
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
References
Ontology
Human Disease   ( DOID:0060346 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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