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Echinobase
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,

Echinobase Genes :


OMIM:
MIM:255995 - native american myopathy; nam

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

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