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Metadata
ID	DOID:0110215
Name	Leber congenital amaurosis 5
Definition	A Leber congenital amaurosis that is characterized by severe visual dysfunction, nystagmus, the oculodigital sign, and a normal fundus with onset in infancy and has_material_basis_in mutation in the LCA5 gene on chromosome 6q14.1. https://www.ncbi.nlm.nih.gov/pubmed/17546029
Xrefs	ICD10CM:H35.5 MIM:604537
Synonyms	LCA5 [EXACT]
Parent Relationships	is_a Leber congenital amaurosis is_a autosomal recessive disease