Asphyxiating thoracic dystrophy 5

Definition

Any Jeune syndrome in which the cause of the disease is a mutation in the WDR19 gene.

Also known as asphyxiating thoracic dystrophy 5, asphyxiating thoracic dystrophy type 5, ATD5, Jeune syndrome caused by mutation in WDR19, short-rib thoracic dysplasia 5 with or without polydactyly, SRTD5, WDR19 Jeune syndrome — per MONDO

Also identified as

• DOID 0110089 per MONDO
• OMIM 614376 per MONDO
• UMLS C3280598 per MONDO