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Leber congenital amaurosis 4

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Any Leber congenital amaurosis in which the cause of the disease is a mutation in the AIPL1 gene.
Uniprot Description A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.
Mondo Term and Equivalent IDs
MONDO:0011458:  Leber congenital amaurosis 4
GARD:0009662: 
MESH:C565778: 
UMLS:C1858386: