OBO ID: DOID:0080102
Term Name: congenital fiber-type disproportion Search Ontology:
Synonyms:
  • CFTD
Definition: A congenital myopathy that is characterized by skeletal muscle weakness, particularly in the muscles of the shoulders, upper arms, hips, and thighs. https://ghr.nlm.nih.gov/condition/congenital-fiber-type-disproportion
References:
Ontology: Human Disease   (DOID:0080102)
OTHER congenital fiber-type disproportion PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ACTA1 Myopathy, congenital, with fiber-type disproportion 1 255310
SELENON Myopathy, congenital, with fiber-type disproportion 255310
TPM3 Myopathy, congenital, with fiber-type disproportion 255310
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None