SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/724349009
http://purl.bioontology.org/ontology/SNOMEDCT/724349009
Preferred Name

Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome

Definitions
Disease characterised by congenital joint contractures (normalising during early childhood), external ophthalmoplegia and proximal muscle weakness. In adult cases, the muscular weakness is progressive. Nineteen affected individuals have been described from one large family. The causative gene, the hereditary inclusion-body myopathy (IBM3) gene, has been mapped to chromosome region 17p13.1. Inheritance is autosomal dominant. Disease characterized by congenital joint contractures (normalizing during early childhood), external ophthalmoplegia and proximal muscle weakness. In adult cases, the muscular weakness is progressive. Nineteen affected individuals have been described from one large family. The causative gene, the hereditary inclusion-body myopathy (IBM3) gene, has been mapped to chromosome region 17p13.1. Inheritance is autosomal dominant.
Synonyms
Inclusion body myopathy type 3
Hereditary inclusion body myopathy type 3
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
Type http://www.w3.org/2002/07/owl#Class
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