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Leber congenital amaurosis 16

Disease Summary
Associated Targets (2)
Tchem

1

Tbio

1


GARD Rare
Mondo Description Any Leber congenital amaurosis in which the cause of the disease is a mutation in the KCNJ13 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.
Disease Ontology Description A Leber congenital amaurosis that has_material_basis_in mutation in the KCNJ13 gene on chromosome 2q37.
Mondo Term and Equivalent IDs
MONDO:0013613:  Leber congenital amaurosis 16
GARD:0010885: 
UMLS:C3280062: