Asphyxiating thoracic dystrophy 4

Definition

An asphyxiating thoracic dystrophy has material basis in compound heterozygous mutation in the TTC21B gene on chromosome 2q24.

Also known as asphyxiating thoracic dystrophy 4, asphyxiating thoracic dystrophy type 4, ATD4, short-rib thoracic dysplasia 4 with or without polydactyly, SRTD4 — per MONDO

Also identified as

• DOID 0110088 per MONDO
• OMIM 613819 per MONDO
• UMLS C3151185 per MONDO