has material basis in germline mutation in IFT80 asphyxiating thoracic dystrophy 2 https://www.malacards.org/card/short_rib_thoracic_dysplasia_2_with_or_without_polydactyly OMIM:611263 IFT80 Jeune syndrome Any Jeune syndrome in which the cause of the disease is a mutation in the IFT80 gene. UMLS:C1970005 ATD2 MESH:C566982 SRTD2 short-rib thoracic dysplasia 2 with or without polydactyly DOID:0110086 MEDGEN:370804 MONDO:0012644 Jeune syndrome caused by mutation in IFT80 GARD:0015511 asphyxiating thoracic dystrophy type 2 asphyxiating thoracic dystrophy 2 Jeune syndrome