- oculopharyngodistal myopathy [DOID:0081296]
A myopathy that is characterized by progressive external ocular, facial and pharyngeal muscle weakness, leading to variable degrees of ptosis, ophthalmoparesis, facial muscle atrophy, dysarthria and dysphagia, as well as distal muscle weakness and atrophy of lower and upper extremities.
- oculopharyngodistal myopathy 1 [DOID:0081297]
An oculopharyngodistal myopathy that is characterized by adult-onset ptosis, external ophthalmoplegia, facial muscle weakness, distal limb muscle weakness and atrophy, and pharyngeal involvement, resulting in dysphagia and dysarthria, and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region of the LRP12 gene on chromosome 8q22.
- myotonia congenita [DOID:2106]
A muscle tissue disease that is characterized by slow muscle relaxation associated with hyperexcitation of the muscle fibres.
- oculopharyngodistal myopathy 3 [DOID:0081299]
An oculopharyngodistal myopathy that is characterized by progressive muscle weakness with ocular, facial, pharyngeal, and distal limb involvement, resulting in dysarthria and gait difficulties and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region (UTR) of the NOTCH2NLC gene on chromosome 1q21.
- myoma [DOID:2691]
A muscle benign neoplasm that is characterized as benign hyperplastic lesions of uterine smooth muscle cells.
- rippling muscle disease 1 [DOID:0070308]
A muscle tissue disease characterized by electrically silent contractions of the skeletal muscles in response to mechanical stimuli. It has_material_basis_in mutation in the gene localized to 1q41 at the distal end of the long arm of chromosome 1, has_symptom characteristic lateral rolling movement of muscle, has_symptom muscle cramps, has_symptom muscle pain, has_symptom muscle stiffness during or following exercise.
- congenital myasthenic syndrome [DOID:3635]
A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic).
- uterus leiomyosarcoma [DOID:5289]
A uterine Corpus sarcoma and leiomyosarcoma and uterine Corpus smooth muscle neoplasm that is located_in the smooth muscle of the uterus.