OBO ID: DOID:0110305
Term Name: autosomal dominant limb-girdle muscular dystrophy type 1 Search Ontology:
Synonyms:
  • autosomal dominant limb-girdle muscular dystrophy type 1E
  • LGMD1D
  • muscular dystrophy limb-girdle type 1D
  • muscular dystrophy limb-girdle type 1E
Definition: An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the DNAJB6 gene on chromosome 7q36. https://www.ncbi.nlm.nih.gov/pubmed/22334415
References:
Ontology: Human Disease   ( DOID:0110305 )
Relationships
is a type of:
OTHER autosomal dominant limb-girdle muscular dystrophy type 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DNAJB6 Muscular dystrophy, limb-girdle, autosomal dominant 1 603511
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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