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Disease Ontology Browser
Native American myopathy (DOID:0060346)
Alliance: disease page
Alt IDs: OMIM:255995, MESH:C538343, ORDO:168572, UMLS_CUI:C1850625
Definition: A neuromuscular disease characterized by congenital weakness, arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kykphoscoliosis, talipes deformities and susceptibility to malignant hyperthermia provoked by anesthesia; that has material basis in homozygous mutation in the STAC3 gene on chromosome 12q13.


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/14/2017
MGI 6.11
The Jackson Laboratory