|OBO ID: DOID:0110332|
|Term Name:||Leber congenital amaurosis 4||Search Ontology:|
|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|
|Ontology:||Human Disease (DOID:0110332)|
|is a type of:||
OTHER Leber congenital amaurosis 4 PAGES
PHENOTYPE No data available
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