Muscular dystrophy, limb-girdle, type 1b

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

Obsolete resource : true;

Moved to : 181350;

Symbol : LGMD1B;

CISMeF acronym : LGMD1B;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Muscular dystrophy, proximal, type 1b;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the lamin a/c gene (lmna, 150330.0017);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : 159001;

Détails

Origin ID

159001;

UMLS CUI

C1834653;

Automatic exact mappings (from CISMeF team)
- LMNA wt Allele [NCIt concept]
- symbol withdrawn LGMD1B [HGNC gene]
Currated CISMeF NLP mapping
- Autosomal dominant limb girdle muscular dystrophy type 1B (disorder) [SNOMED CT concept]
- Autosomal dominant limb-girdle muscular dystrophy type 1B [ORDO Disease]
- Limb-girdle muscular dystrophy, type 1B [MeSH concept]
- autosomal dominant limb-girdle muscular dystrophy type 1B [DO Concept]
- limb girdle muscular dystrophy type 1b [Disease (Nov.)]
- limb-girdle muscular dystrophy, type 1B [MeSH Supplementary Concept]
HPO term(s)
- EMG shows myopathic changes [HPO term]
- Hip girdle muscle weakness (usually presenting symptom) [HPO term]
ORDO concept(s)
- Autosomal dominant limb-girdle muscular dystrophy type 1B [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant limb-girdle muscular dystrophy type 1B [ORDO Disease]
- Limb-girdle muscular dystrophy, type 1B [MeSH concept]
- limb-girdle muscular dystrophy, type 1B [MeSH Supplementary Concept]

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