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DO Term : GNE myopathy [DOID:0080718] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • inclusion body myopathy 2,
  • MESH:C536816,
  • Nonaka myopathy,
  • UMLS_CUI:C1833373,
  • UMLS_CUI:C1853926,
  • ORDO:602,
  • 605820,
  • Distal Myopathy with Rimmed Vacuoles,
  • SNOMEDCT_US_2023_03_01:702382000,
  • Hereditary Inclusion Body Myopathy,
  • MESH:C538329,
  • OMIM:605820,
  • GARD:9493,
  • Distal myopathy, Nonaka type,
  • NCI:C176900
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