_:vb50945355 . . "disease_ontology"^^ . "OMIM:231050"^^ . _:vb50945355 . _:vb50945355 . "GPHYSD1"^^ . . . . "geleophysic dysplasia 1"^^ . "DOID:0111725"^^ . "A geleophysic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in ADAMTSL2 on chromosome 9q34.2."^^ . _:vb50945355 . _:vb50945355 .