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Human Disease

autosomal dominant limb-girdle muscular dystrophy type 2

Term ID
DOID:0110304
Synonyms
  • autosomal dominant limb-girdle muscular dystrophy type 1F
  • LGMD1F
  • muscular dystrophy limb-girdle type 1F
Definition
An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the TNPO3 gene on chromosome 7q32. (2)
References
Ontology
Human Disease   ( DOID:0110304 )
Relationships
is a type of
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Genes Involved
Zebrafish Models