Limb-Girdle Muscular Dystrophy Type 2A

Preferred Label : Limb-Girdle Muscular Dystrophy Type 2A;

NCIt synonyms : LGMD2A; Autosomal Recessive Muscular Dystrophy Limb-Girdle 1; LGMDR1;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the CAPN3 gene, encoding calpain-3. It is characterized by muscular dystrophy, primarily affecting the proximal muscles, resulting in difficulty walking.;

Details

Origin ID

C142079;

UMLS CUI

C1869123;

Currated CISMeF NLP mapping
- Autosomal recessive limb girdle muscular dystrophy type 2A (disorder) [SNOMED CT concept]
- Calpain-3-related limb-girdle muscular dystrophy R1 [ORDO Disease]
- Limb-girdle muscular dystrophy type 2A [MeSH concept]
- Muscular dystrophy, limb-girdle, autosomal recessive 1 [OMIM Phenotype]
- autosomal recessive limb-girdle muscular dystrophy type 2A [DO Concept]
- limb girdle muscular dystrophy type 2a [Disease (Nov.)]
- limb-girdle muscular dystrophy type 2A [MeSH Supplementary Concept]
Excludes anatomical site(s)
- Bone [NCIt concept]
Has associated anatomic sites
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [NCIt concept]
- Nervous System [NCIt concept]
See also inter- (CISMeF)
- calpain 3 [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive limb girdle muscular dystrophy type 2A (disorder) [SNOMED CT concept]
- Calpain-3-related limb-girdle muscular dystrophy R1 [ORDO Disease]
- Limb-girdle muscular dystrophy type 2A [MeSH concept]
- Muscular dystrophy, limb-girdle, autosomal recessive 1 [OMIM Phenotype]
- autosomal recessive limb-girdle muscular dystrophy type 2A [DO Concept]
- limb girdle muscular dystrophy type 2a [Disease (Nov.)]
- limb-girdle muscular dystrophy type 2A [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
- Soft Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Peripheral Nerve [NCIt concept]
disease_mapped_to_gene
- CAPN3 Gene [NCIt concept]

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