Limb-Girdle Muscular Dystrophy Type 2D

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

NCIt synonyms : LGMD2D; Autosomal Recessive Muscular Dystrophy Limb-Girdle 3; LGMDR3;

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

Details

Origin ID

C142081;

UMLS CUI

C2936332;

Currated CISMeF NLP mapping
- Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 [ORDO Disease]
- Muscular dystrophy, limb-girdle, autosomal recessive 3 [OMIM Phenotype]
- autosomal recessive limb-girdle muscular dystrophy type 2D [DO Concept]
- sarcoglycanopathies [MeSH Descriptor]
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)
- sarcoglycan alpha [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Alpha-Sarcoglycanopathies [MeSH concept]
- Autosomal recessive limb girdle muscular dystrophy type 2D (disorder) [SNOMED CT concept]
- Muscular dystrophy, limb-girdle, autosomal recessive 3 [OMIM Phenotype]
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
- SGCA Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients