Short-rib thoracic dysplasia 10 with or without polydactyly

Definition

An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23.

Also known as short-rib thoracic dysplasia 10 with or without polydactyly, SRTD10 — per MONDO

Also identified as

• DOID 0110091 per MONDO
• OMIM 615630 per MONDO
• UMLS C3810175 per MONDO