"disease_ontology"^^ . _:vb50944449 . . _:vb50944449 . "Walker-Warburg syndrome or muscle-eye-brain disease POMK-related"@en . _:vb50944449 . . . "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A12"@en . _:vb50944449 . "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMK on 8p11.21."^^ . _:vb50944449 . "congenital muscular dystrophy-dystroglycanopathy type A12"^^ . "OMIM:615249"^^ . "MDDGA12"@en . "DOID:0111235"^^ .