Brachydactyly type D

Definition

A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has material basis in mutation in the HOXD13 gene on chromosome 2q31.1.

Also known as BDD — per MONDO

Also identified as

• DOID 0110971 per MONDO
• MESH C562420 per MONDO
• OMIM 113200 per MONDO
• Orphanet 93385 per MONDO
• UMLS C0220664 per MONDO