1 Child Term
Identifier | Name | Description |
---|---|---|
DOID:0110297 | autosomal recessive limb-girdle muscular dystrophy type 2K | 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). |