Brachydactyly type E2

Definition

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

Also known as BDE2, brachydactyly type E caused by mutation in PTHLH, brachydactyly type E2, PTHLH brachydactyly type E — per MONDO

Also identified as

• DOID 0110976 per MONDO
• OMIM 613382 per MONDO
• UMLS C3150644 per MONDO