FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term congenital myopathy 13 ID (Ontology) DOID:0060346 (Human Disease)
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.
Also Known As "Bailey-Bloch congenital myopathy" ; "Native American myopathy" ; "STAC3 disorder"
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 Genes
 congenital myopathy 13       1
 for disease ribbon | congenital myopathy 13       1
 model of | congenital myopathy 13       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
myopathy                         |
 |__congenital myopathy__________|
                                 congenital myopathy 13  1 rec.
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Is a autosomal recessive disease
congenital myopathy
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Synonyms
  • "Bailey-Bloch congenital myopathy" EXACT
    "Native American myopathy" EXACT
    "STAC3 disorder" EXACT
Secondary IDs
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GARD:8432
MESH:C538343
MIM:255995
ORDO:168572
SNOMEDCT_US_2023_03_01:723439002
UMLS_CUI:C1850625