_:vb50940704 . "disease_ontology"^^ . _:vb50940704 . . "An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the IFT81 gene on chromosome 12q24."^^ . . _:vb50940704 . . . "DOID:0080295"^^ . "OMIM:617895"^^ . _:vb50940704 . "short-rib thoracic dysplasia 19 with or without polydactyly"@en . _:vb50940704 .