autosomal dominant disease myopathy, proximal, and ophthalmoplegia hereditary inclusion-body myopathy hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome https://github.com/monarch-initiative/mondo/issues/8804 https://www.malacards.org/card/hereditary_inclusion_body_myopathy_joint_contractures_ophthalmoplegia_syndrome hereditary inclusion body myopathy type 3 IBM3 Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia Orphanet:79091 inclusion body myopathy type 3 Hereditary inclusion body myopathy type 3 GARD:0009494 Inclusion body myopathy autosomal dominant MEDGEN:1382737 MONDO:0019195 SCTID:724349009 A rare genetic neuromuscular disease characterized by early onset of proximal or generalized muscle weakness, external ophthalmoplegia with or without ptosis, and joint contractures. Hypotonia, neonatal respiratory distress necessitating ventilation, and severe dysphagia have also been reported. The disease is of variable severity and non- or slowly progressive. Patients typically remain ambulatory. Muscle biopsy may show predominance of type 1 fibers, marked variability in fiber size, increased internal nuclei, and proliferation of perimysial and endomysial connective tissue. Myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles UMLS:C4510610 HIBM3