| Metadata | |
|---|---|
| ID | DOID:0110294 |
| Name | autosomal recessive limb-girdle muscular dystrophy type 2T |
| Definition | An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPB gene encoding the beta subunit of GDP-mannose pyrophosphorylase on chromosome 3p21. https://www.ncbi.nlm.nih.gov/pubmed/23768512 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
LGMD2T [EXACT] MDDGC14 [EXACT] muscular dystrophy limb-girdle type 2T [EXACT] muscular dystrophy-dystroglycanopathy (limb-girdle) type C14 [EXACT] muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related [EXACT] |
| Parent Relationships |