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fibrosis of extraocular muscles, congenital, 5

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the COL25A1 gene.
Uniprot Description An ocular motility disorder characterized by congenital dysinnervation of various cranial nerves to ocular muscles. Clinical features are ophthalmoplegia, anchoring of the eyes in downward gaze, ptosis, and backward tilt of the head.
Mondo Term and Equivalent IDs
MONDO:0014538:  fibrosis of extraocular muscles, congenital, 5
UMLS:C4015552: