Pyle disease (metaphyseal dysplasia).
D001847:Bone Diseases / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics / Q000628:therapy; D001842:Bone and Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D003937:Diagnosis, Differential; D005808:Genes, Recessive; D006801:Humans; D011859:Radiography; D013577:Syndrome