Nonaka Myopathy

Preferred Label : Nonaka Myopathy;

NCIt synonyms : GNE Myopathy;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the GNE gene, encoding bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase. It is characterized by distal muscle weakness and atrophy, especially the tibialis anterior, and sparing of the quadriceps.;

Details

Origin ID

C176900;

UMLS CUI

C1853926;

Automatic exact mappings (from CISMeF team)
- GNE myopathy [DO Concept]
- Inclusion myopathy [ORDO Disease]
Currated CISMeF NLP mapping
- Distal myopathy, Nonaka type [MeSH concept]
- GNE myopathy [MedDRA Preferred Term]
- GNE myopathy [ORDO Disease]
- Hereditary inclusion body myopathy [MedDRA Preferred Term]
- Hereditary inclusion body myopathy [MedDRA LLT]
- Inclusion body myopathy 2 (disorder) [SNOMED CT concept]
- Inclusion body myopathy 2, autosomal recessive [OMIM Phenotype]
- Nonaka myopathy [OMIM Phenotype]
- distal myopathy, nonaka type [MeSH Supplementary Concept]
- hereditary inclusion body myopathy [Disease (Nov.)]
Excludes anatomical site(s)
- Bone [NCIt concept]
Has associated anatomic sites
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Distal myopathy, Nonaka type [MeSH concept]
- GNE myopathy [MedDRA Preferred Term]
- Hereditary inclusion body myopathy [MedDRA LLT]
- Hereditary inclusion body myopathy [MedDRA Preferred Term]
- Inclusion body myopathy 2 (disorder) [SNOMED CT concept]
- Nonaka myopathy [OMIM Phenotype]
- distal myopathy, nonaka type [MeSH Supplementary Concept]
- hereditary inclusion body myopathy [Disease (Nov.)]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
- Soft Tissue [NCIt concept]
disease_mapped_to_gene
- GNE Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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