| Metadata | |
|---|---|
| ID | DOID:0060346 |
| Name | Native American myopathy |
| 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 |
| Xrefs |
SNOMEDCT_US_2023_03_01:723439002 |
| Subsets |
DO_rare_slim |
| Synonyms |
Bailey-Bloch congenital myopathy [EXACT] congenital myopathy 13 [EXACT] |
| Parent Relationships |
is_a congenital myopathy |
| Subclass Logical Relationships |
has symptom some ptosis has material basis in some autosomal recessive inheritance has symptom some muscle weakness |