Limb-Girdle Muscular Dystrophy Type 1C

Preferred Label : Limb-Girdle Muscular Dystrophy Type 1C;

NCIt synonyms : LGMD1C;

NCIt definition : A sub-type of limb-girdle muscular dystrophy caused by mutation(s) in the CAV3 gene, encoding caveolin-3.;

Details

Origin ID

C148318;

UMLS CUI

C1832567;

Automatic exact mappings (from CISMeF team)
- Rippling muscle disease 2 [OMIM Phenotype]
- rippling muscle disease 2 [DO Concept]
- rippling muscle disease 2 [MeSH concept]
Currated CISMeF NLP mapping
- Autosomal dominant limb girdle muscular dystrophy type 1C (disorder) [SNOMED CT concept]
- Autosomal dominant limb-girdle muscular dystrophy type 1C [ORDO Disease]
- Muscular dystrophy, limb-girdle, type 1c [OMIM Phenotype]
- autosomal dominant limb-girdle muscular dystrophy type 1C [DO Concept]
- limb girdle muscular dystrophy type 1c [Disease (Nov.)]
- muscular dystrophy, Limb-Girdle, type 1C [MeSH concept]
- muscular dystrophy, Limb-Girdle, type 1C [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)
- caveolin 3 [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant limb-girdle muscular dystrophy type 1C [ORDO Disease]
- Muscular dystrophy, limb-girdle, type 1c [OMIM Phenotype]
- muscular dystrophy, Limb-Girdle, type 1C [MeSH concept]
- muscular dystrophy, Limb-Girdle, type 1C [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
- CAV3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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