Search Ontology:
Human Disease

autosomal recessive limb-girdle muscular dystrophy type 2L

Term ID
DOID:0110284
Synonyms
  • LGMD2L
  • muscular dystrophy, limb-girdle, type 2L
Definition
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ANO5 gene on chromosome 11p14. https://www.ncbi.nlm.nih.gov/pubmed/20096397
References
Ontology
Human Disease   ( DOID:0110284 )
Relationships
is a type of
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Genes Involved
Zebrafish Models