Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement

Definition

Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the TUBB3 gene.

Also known as congenital fibrosis of extraocular muscles caused by mutation in TUBB3, fibrosis of extraocular muscles, congenital, 3A, fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement, TUBB3 congenital fibrosis of extraocular muscles — per MONDO

Also identified as

• DOID 0081017 per MONDO
• MESH C567572 per MONDO
• OMIM 600638 per MONDO
• UMLS C2748801 per MONDO