| Metadata | |
|---|---|
| ID | DOID:0110295 |
| Name | autosomal recessive limb-girdle muscular dystrophy type 2U |
| Definition | An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the ISPD gene on chromosome 7p21. https://www.ncbi.nlm.nih.gov/pubmed/23390185 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency [EXACT] LGMD2U [EXACT] MDDGC7 [EXACT] muscular dystrophy limb-girdle type 2U [EXACT] muscular dystrophy-dystroglycanopathy (limb-girdle) type C7 [EXACT] |
| Parent Relationships |