Term Name: muscular dystrophy-dystroglycanopathy type B2
Synonyms: congenital muscular dystrophy POMT2-related, MDDGB2
Definition: A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3.
Ontology: Human Disease [DOID:0112380]   ( DOID:0112380 )

Relationships
is a type of: autosomal recessive disease muscular dystrophy-dystroglycanopathy type B