OBO ID: DOID:0110304
Term Name: autosomal dominant limb-girdle muscular dystrophy type 2 Search Ontology:
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:
OTHER autosomal dominant limb-girdle muscular dystrophy type 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TNPO3 Muscular dystrophy, limb-girdle, autosomal dominant 2 608423
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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