| Metadata | |
|---|---|
| ID | DOID:0110278 |
| Name | autosomal recessive limb-girdle muscular dystrophy type 2D |
| Definition | An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the alpha-sarcoglycan gene (SGCA) on chromosome 17q. https://ghr.nlm.nih.gov/condition/limb-girdle-muscular-dystrophy, https://www.ncbi.nlm.nih.gov/pubmed/30055862, https://www.omim.org/entry/608099 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Alpha-sarcoglycanopathy [EXACT] DMDA2 [EXACT] Duchenne-like autosomal recessive muscular dystrophy type 2 [EXACT] LGMD2D [EXACT] muscular dystrophy, limb-girdle, type 2D [EXACT] primary adhalinopathy [EXACT] |
| Parent Relationships |