Search Ontology:
Human Disease

autosomal dominant limb-girdle muscular dystrophy type 1

Term ID
DOID:0110305
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 Pages
Alliance (1)
Genes Involved
Zebrafish Models
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