OBO ID: DOID:0110290
Term Name: autosomal recessive limb-girdle muscular dystrophy type 2X Search Ontology:
Synonyms:
  • LGMD2X
  • muscular dystrophy, limb-girdle, type 2X
Definition: An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the BVES gene on chromosome 6q21. https://www.ncbi.nlm.nih.gov/pubmed/26642364
References:
Ontology: Human Disease   (DOID:0110290)
OTHER autosomal recessive limb-girdle muscular dystrophy type 2X PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
BVES Muscular dystrophy, limb-girdle, autosomal recessive 25 616812
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None