OBO ID: DOID:0060346
Term Name: Native American myopathy Search Ontology:
Synonyms:
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 and that has_material_basis_in homozygous mutation in the STAC3 gene on chromosome 12q13. https://www.ncbi.nlm.nih.gov/pubmed/18553514
References:
Ontology: Human Disease   (DOID:0060346)
OTHER Native American myopathy PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
STAC3 Myopathy, congenital, Baily-Bloch 255995
ZEBRAFISH MODELS
Fish Conditions Citations
stac3mi34/mi34 control Linsley et al., 2017
PHENOTYPE No data available

CITATIONS (2)