Treacher Collins syndrome 3

Definition

Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1C gene.

Also known as POLR1C Treacher-Collins syndrome, Treacher Collins syndrome 3, Treacher Collins syndrome type 3, Treacher-Collins syndrome caused by mutation in POLR1C — per MONDO

Also identified as

• DOID 0080791 per MONDO
• MESH C535707 per MONDO
• OMIM 248390 per MONDO
• UMLS C1855433 per MONDO