Term Name: | muscular dystrophy-dystroglycanopathy type B14 |
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Synonyms: | congenital muscular dystrophy GMPPB-related, MDDGB14 |
Definition: | A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPB gene on chromosome 3p21.31. |
Ontology: | Human Disease [DOID:0112377] ( DOID:0112377 ) |