Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly (SRTD6)

Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly, also known as majewski syndrome, is related to orofaciodigital syndrome iv and short rib-polydactyly syndrome, majewski type. An important gene associated with Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly is NEK1 (NIMA Related Kinase 1), and among its related pathways/superpathways are Signal Transduction and Organelle biogenesis and maintenance. Affiliated tissues include pancreas and liver, and related phenotypes are brachycephaly and hepatic fibrosis