Term Name: | muscular dystrophy-dystroglycanopathy type B2 |
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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 ) |