Definition:A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.
Definition:A muscle tissue disease characterized by increased muscle bulk and strength that has_material_basis_in homozygous mutation in the MSTN gene on chromosome 2q32.2.
Definition:A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.
Definition:A syndrome characterized by supernumerary cervical, thoracic, and/or lumbar vertebrae, in association with supernumerary ribs that has_material_basis_in heterozygous mutation in the GDF11 gene on chromosome 12q13.