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GENATLAS PHENOTYPE
last update : 13-12-2019
Symbol FOD
Location 15q26.1
Name osteochondritis dissecans familial
Other name(s)
  • Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
    • Corresponding gene ACAN
    Other symbol(s) SSOAOD
    Main clinical features
  • multiple osteochondritis dissecans in association with short stature, and advanced bone age, with or without early-onset osteoarthritis
    • Genetic determination autosomal dominant
    Function/system disorder osteo-articular
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function in C-type lectin repeat (Stattin 2010)
    Remark(s)