Short-rib thoracic dysplasia 14 with polydactyly

Definition

An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the KIAA0586 gene on chromosome 14q23.

Also known as short-rib thoracic dysplasia 14 with polydactyly, SRTD14 — per MONDO

Also identified as

• DOID 0110096 per MONDO
• OMIM 616546 per MONDO
• UMLS C4225286 per MONDO