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Metadata
ID	DOID:0110329
Name	Leber congenital amaurosis 6
Definition	A Leber congenital amaurosis that is characterized by early photophobia, hypermetropia less than +7 diopters, and visual acuity in the range of 20/400 to count fingers and has_material_basis_in mutation in the RPGRIP1 gene on chromosome 14q11. https://www.ncbi.nlm.nih.gov/pubmed/11283794
Xrefs	ICD10CM:H35.5 MESH:C565327 OMIM:613826
Synonyms	LCA6 [EXACT]
Parent Relationships	is_a Leber congenital amaurosis is_a autosomal recessive disease