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Summary Literature (0)
DOID:0060346 - Native American myopathy

Disease Ontology 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.

Synonyms: Bailey-Bloch congenital myopathy, congenital myopathy 13

Xenbase Genes : stac3

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009722 - Bailey-Bloch congenital myopathy


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), congenital myopathy (is_a), neuromuscular disease (is_a)