"CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS"@en . . _:vb50940236 . _:vb50940236 . . "otospondylomegaepiphyseal dysplasia, autosomal recessive"^^ . "DOID:0080026"^^ . _:vb50940236 . _:vb50940235 . _:vb50940235 . _:vb50940235 . _:vb50940235 . _:vb50940236 . "disease_ontology"^^ . "OMIM:215150"^^ . "NANCE-SWEENEY CHONDRODYSPLASIA"@en . . "OSMEDB"^^ . "An osteochondrodysplasia that results from mutations autosomal recessive inheritance of mutations in the COL11A2 gene which results_in enlargement of the located_in epiphysis in located_in hand and located_in foot, distinct facial features, platyspondyly and hearing loss."^^ . _:vb50940236 . "NANCE-INSLEY SYNDROME"@en . "OMIM mapping confirmed by DO. [SN]."^^ . _:vb50940235 . .