Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly (SRTD5)

Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly, also known as asphyxiating thoracic dystrophy 5, is related to short-rib thoracic dysplasia 4 with or without polydactyly and short rib-polydactyly syndrome. An important gene associated with Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly is WDR19 (WD Repeat Domain 19), and among its related pathways/superpathways are Signal Transduction and Organelle biogenesis and maintenance. Affiliated tissues include pancreas and liver, and related phenotypes are cataract and hepatomegaly