OBO ID: DOID:0110276
Term Name: autosomal recessive limb-girdle muscular dystrophy type 2B Search Ontology:
Synonyms:
  • LGMD2B
  • LGMD3
  • limb-girdle muscular dystrophy due to dysferlin deficiency
  • limb-girdle muscular dystrophy type 3
Definition: An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the skeletal muscle protein dysferlin (DYSF) on chromosome 2p13. https://www.ncbi.nlm.nih.gov/pubmed/9731527
References:
Ontology: Human Disease   ( DOID:0110276 )
Relationships
is a type of:
OTHER autosomal recessive limb-girdle muscular dystrophy type 2B PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DYSF Muscular dystrophy, limb-girdle, autosomal recessive 2 253601
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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