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Bailey-Bloch congenital myopathy

Disease Summary
Associated Targets (1)
Tbio

1


Explore Associated Targets
Mondo Description Bailey-Bloch congenital myopathy is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.
Uniprot Description A disease characterized by congenital weakness and arthrogryposis, cleft palate, ptosis, short stature, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia provoked by anesthesia.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0009722:  Bailey-Bloch congenital myopathy
GARD:0008432: 
MESH:C538343: 
Orphanet:168572: 
SCTID:723439002: 
UMLS:C1850625: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)