Treacher Collins syndrome 2

Definition

Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1D gene.

Also known as POLR1D Treacher-Collins syndrome, Treacher Collins syndrome 2, Treacher Collins syndrome type 2, Treacher-Collins syndrome caused by mutation in POLR1D — per MONDO

Also identified as

• DOID 0080790 per MONDO
• OMIM 613717 per MONDO
• UMLS C3150983 per MONDO