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Disease Ontology Browser
Native American myopathy (DOID:0060346)
Alliance: disease page
Synonyms: Bailey-Bloch congenital myopathy; congenital myopathy 13
Alt IDs: OMIM:255995, MESH:C538343, ORDO:168572, UMLS_CUI:C1850625
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory