Fibrosis of extraocular muscles, congenital, 2

Definition

Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the PHOX2A gene.

Also known as congenital fibrosis of extraocular muscles caused by mutation in PHOX2A, fibrosis of extraocular muscles, congenital, 2, fibrosis of extraocular muscles, congenital, type 2, PHOX2A congenital fibrosis of extraocular muscles — per MONDO

Also identified as

• DOID 0081016 per MONDO
• MESH C566587 per MONDO
• OMIM 602078 per MONDO
• UMLS C1865915 per MONDO