Short-rib thoracic dysplasia 11 with or without polydactyly

Definition

An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR34 gene on chromosome 9q34.

Also known as short-rib thoracic dysplasia 11 with or without polydactyly, SRTD11 — per MONDO

Also identified as

• DOID 0110095 per MONDO
• OMIM 615633 per MONDO
• UMLS C3810200 per MONDO