| Metadata | |
|---|---|
| ID | DOID:0110276 |
| Name | autosomal recessive limb-girdle muscular dystrophy type 2B |
| 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 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
LGMD2B [EXACT] LGMD3 [EXACT] limb-girdle muscular dystrophy due to dysferlin deficiency [EXACT] limb-girdle muscular dystrophy type 3 [EXACT] |
| Parent Relationships |