Asphyxiating thoracic dystrophy 2

Definition

Any Jeune syndrome in which the cause of the disease is a mutation in the IFT80 gene.

Also known as asphyxiating thoracic dystrophy 2, asphyxiating thoracic dystrophy type 2, ATD2, IFT80 Jeune syndrome, Jeune syndrome caused by mutation in IFT80, short-rib thoracic dysplasia 2 with or without polydactyly, SRTD2 — per MONDO

Also identified as

• DOID 0110086 per MONDO
• MESH C566982 per MONDO
• OMIM 611263 per MONDO
• UMLS C1970005 per MONDO