Muscular dystrophy, limb-girdle, type 1c

Preferred Label : Muscular dystrophy, limb-girdle, type 1c;

Obsolete resource : true;

Moved to : 606072;

Symbol : LGMD1C;

CISMeF acronym : LGMD1C;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutation in the caveolin-3 gene (cav3, 601253.0001);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : 607801;

Détails

Origin ID

607801;

UMLS CUI

C1832567;

Automatic exact mappings (from CISMeF team)
- caveolin 3 [HGNC gene]
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]
- Limb-Girdle Muscular Dystrophy Type 1C [NCIt concept]
- 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]
HPO term(s)
- Calf hypertrophy [HPO term]
- Decreased caveolin-3 expression on muscle biopsy [HPO term]
ORDO concept(s)
- Autosomal dominant limb-girdle muscular dystrophy type 1C [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant limb-girdle muscular dystrophy type 1C [ORDO Disease]
- Limb-Girdle Muscular Dystrophy Type 1C [NCIt concept]
- muscular dystrophy, Limb-Girdle, type 1C [MeSH Supplementary Concept]
- muscular dystrophy, Limb-Girdle, type 1C [MeSH concept]

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