Miyoshi Muscular Dystrophy 1

Preferred Label : Miyoshi Muscular Dystrophy 1;

NCIt synonyms : MMD1;

NCIt definition : A rare, autosomal recessive inherited skeletal muscle disorder caused by mutation in the dysferlin gene. It affects young adults and is characterized by weakness and atrophy in the muscles of the upper and lower limbs.;

Détails

Origin ID

C118846;

UMLS CUI

C4551973;

Automatic exact mappings (from CISMeF team)
- Miyoshi Muscular Dystrophy 1 [MeSH concept]
Currated CISMeF NLP mapping
- Miyoshi muscular dystrophy 1 [DO Concept]
Excludes anatomical site(s)
- Bone [NCIt concept]
Has associated anatomic sites
- Connective and Soft Tissue [NCIt concept]
- Muscle [NCIt concept]
- Musculoskeletal System [NCIt concept]
- Nervous System [NCIt concept]
- Peripheral Nervous System [NCIt concept]
- Soft Tissue [NCIt concept]
See also inter- (CISMeF)
- Monocyte-to-macrophage differentiation-associated protein [OMIM gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Miyoshi muscular dystrophy 1 [OMIM Phenotype]
- Miyoshi myopathy [Disease (Nov.)]
- miyoshi myopathy [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Miyoshi muscular dystrophy 1 [OMIM Phenotype]
- Miyoshi myopathy [Disease (Nov.)]
- miyoshi myopathy [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_primary_anatomic_site
- Connective and Soft Tissue [NCIt concept]
- Muscle [NCIt concept]
- Musculoskeletal System [NCIt concept]
- Nervous System [NCIt concept]
- Peripheral Nervous System [NCIt concept]
- Soft Tissue [NCIt concept]
disease_mapped_to_gene
- DYSF Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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