DO_rare_slim NCIthesaurus has material basis in has symptom autosomal recessive disease GNE myopathy disease_ontology UMLS_CUI:C1853926 ORDO:602 A myopathy that is characterized by progressive skeletal muscle atrophy, distal muscle weakness and bilateral foot drop caused by weakness of the anterior tibialis muscles with onset in early adulthood, and that has_material_basis_in mutations in the GNE gene which encodes the rate-limiting enzyme of sialic acid biosynthesis. Distal Myopathy with Rimmed Vacuoles Distal myopathy with rimmed vacuoles is a valid exact synonym (GNE gene), this name has been reused by OMIM for another disease, MIM:617158 (SQSTM1 gene) [LS]. Distal myopathy, Nonaka type MESH:C536816 NCI:C176900 MESH:C538329 Hereditary Inclusion Body Myopathy SNOMEDCT_US_2025_09_01:702382000 MESH:C536816 MIM:605820 GARD:9493 DOID:0080718 Nonaka myopathy inclusion body myopathy 2 myopathy autosomal recessive inheritance muscle weakness