Muscular Dystrophy Congenital, LMNA-Related

Preferred Label : Muscular Dystrophy Congenital, LMNA-Related;

NCIt synonyms : MDCL;

NCIt definition : An autosomal recessive muscular dystrophy caused by mutation(s) in the LMNA gene, encoding prelamin-A/C. Limb-girdle muscular dystrophy type 1B and Emery-Dreifuss muscular dystrophy-2 are allelic disorders with overlapping phenotypes.;

Details

Origin ID

C148369;

UMLS CUI

C2750785;

Automatic exact mappings (from CISMeF team)
- A disintegrin and metalloproteinase domain 28 [OMIM gene]
Currated CISMeF NLP mapping
- Congenital muscular dystrophy due to LMNA mutation [ORDO Disease]
- Congenital muscular dystrophy due to lamin A/C mutation (disorder) [SNOMED CT concept]
- LMNA related congenital muscular dystrophy [Disease (Nov.)]
- Muscular dystrophy, congenital, lmna-related [OMIM Phenotype]
- congenital muscular dystrophy due to LMNA mutation [DO Concept]
- muscular dystrophy, congenital, Lmna-Related [MeSH concept]
- muscular dystrophy, congenital, Lmna-Related [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]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital muscular dystrophy due to LMNA mutation [ORDO Disease]
- Congenital muscular dystrophy due to lamin A/C mutation (disorder) [SNOMED CT concept]
- LMNA related congenital muscular dystrophy [Disease (Nov.)]
- Muscular dystrophy, congenital, lmna-related [OMIM Phenotype]
- congenital muscular dystrophy due to LMNA mutation [DO Concept]
- muscular dystrophy, congenital, Lmna-Related [MeSH concept]
- muscular dystrophy, congenital, Lmna-Related [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
- LMNA Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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