| Metadata | |
|---|---|
| ID | DOID:0110297 |
| Name | autosomal recessive limb-girdle muscular dystrophy type 2K |
| Definition | An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1). https://www.ncbi.nlm.nih.gov/pubmed/15792865 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
LGMD2K [EXACT] limb-girdle muscular dystrophy-intellectual disability syndrome [EXACT] MDDGC1 [EXACT] muscular dystrophy limb-girdle type 2K [EXACT] muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1 [EXACT] |
| Parent Relationships |