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Metadata
ID	DOID:0110332
Name	Leber congenital amaurosis 4
Definition	A Leber congenital amaurosis that is characterized by a relatively severe phenotype, with maculopathy and marked bone-spicule pigmentary retinopathy in most and keratoconus and cataract in a large subset and that has_material_basis_in mutation in the AIPL1 gene on chromosome 17p13. https://www.ncbi.nlm.nih.gov/pubmed/10615133
Xrefs	ICD10CM:H35.5 MESH:C565778 OMIM:604393
Synonyms	LCA4 [EXACT]
Parent Relationships	is_a Leber congenital amaurosis is_a autosomal recessive disease