Brachydactyly type E1

Definition

Any brachydactyly type E in which the cause of the disease is a mutation in the HOXD13 gene.

Also known as BDE1, brachydactyly type E caused by mutation in HOXD13, HOXD13 brachydactyly type E — per MONDO

Also identified as

• DOID 0110972 per MONDO
• MESH C566194 per MONDO
• OMIM 113300 per MONDO
• UMLS C1862102 per MONDO