Inclusion body myopathy 2, autosomal recessive

Preferred Label : Inclusion body myopathy 2, autosomal recessive;

Obsolete resource : true;

Moved to : 605820;

Alternative titles and symbols : Ibm2; Inclusion body myopathy, autosomal recessive; Inclusion body myopathy, quadriceps-sparing; Qsm;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the udp-n-acetylglucosamine 2-epimerase/n-acetylmannosaminekinase gene (gne, 603824.0005);

Laboratory abnormalities : Increased creatine phosphokinase (cpk);

Prefixed ID : 600737;

Details

Origin ID

600737;

UMLS CUI

C1833373;

Automatic exact mappings (from CISMeF team)
- Inclusion body myopathy autosomal recessive [MeSH concept]
- inclusion body myopathy autosomal recessive [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Nonaka Myopathy [NCIt concept]
- distal myopathy, nonaka type [MeSH Supplementary Concept]
HPO term(s)
- EMG shows myopathic changes [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Inclusion body myopathy autosomal recessive [MeSH concept]
- inclusion body myopathy autosomal recessive [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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