Limb-Girdle Muscular Dystrophy Type 2B

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

NCIt synonyms : LGMD2B; Autosomal Recessive Muscular Dystrophy Limb-Girdle 2; LGMDR2;

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

Details

Origin ID

C142080;

UMLS CUI

C1850889;

Currated CISMeF NLP mapping
- Autosomal recessive limb girdle muscular dystrophy type 2B (disorder) [SNOMED CT concept]
- Dysferlin-related limb-girdle muscular dystrophy R2 [ORDO Disease]
- Limb-girdle muscular dystrophy, type 2B [MeSH concept]
- Muscular dystrophy, limb-girdle, autosomal recessive 2 [OMIM Phenotype]
- autosomal recessive limb-girdle muscular dystrophy type 2B [DO Concept]
- limb girdle muscular dystrophy type 2b [Disease (Nov.)]
- limb-girdle muscular dystrophy, type 2B [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)
- dysferlin [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive limb girdle muscular dystrophy type 2B (disorder) [SNOMED CT concept]
- Dysferlin-related limb-girdle muscular dystrophy R2 [ORDO Disease]
- Limb-girdle muscular dystrophy, type 2B [MeSH concept]
- Muscular dystrophy, limb-girdle, autosomal recessive 2 [OMIM Phenotype]
- limb-girdle muscular dystrophy, type 2B [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
- DYSF Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients