Myopathy due to Myoadenylate Deaminase Deficiency

Preferred Label : Myopathy due to Myoadenylate Deaminase Deficiency;

NCIt synonyms : MMDD;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the AMPD1 gene, encoding AMP deaminase 1. The condition is characterized by exercise-induced muscle pain and/or fatigue, which may be associated with rhabdomyolysis and/or increased concentrations of creatinine kinase.;

Details

Origin ID

C157504;

UMLS CUI

C3714933;

Currated CISMeF NLP mapping
- Myopathy due to myoadenylate deaminase deficiency [OMIM Phenotype]
- adenosine monophosphate deaminase deficiency [MeSH Supplementary Concept]
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)
- Myopathy due to myoadenylate deaminase deficiency [OMIM Phenotype]
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
- AMPD1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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