_:vb50945357 . _:vb50945357 . . . "geleophysic dysplasia 2"^^ . "DOID:0111726"^^ . "OMIM:614185"^^ . _:vb50945357 . "disease_ontology"^^ . _:vb50945357 . . _:vb50945357 . . "GPHYSD2"^^ . "A geleophysic dysplasia that has_material_basis_in heterozygous mutation in exon 41 or 42 of FBN1 on chromosome 15q21.1."^^ .