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Metadata
ID	DOID:0110078
Name	Leber congenital amaurosis 1
Definition	A Leber congenital amaurosis characterized by severe cone-rod dystrophy with photophobia, high hyperopia, and poor but stable vision with no visual improvement and that has_material_basis_in mutation in the GUCY2D gene on chromosome 17p13. https://www.ncbi.nlm.nih.gov/pubmed/8944027
Xrefs	ICD10CM:H35.5 MIM:204000
Synonyms	amaurosis congenita of Leber I [EXACT] LCA1 [EXACT]
Parent Relationships	is_a Leber congenital amaurosis is_a autosomal recessive disease