Term Name: | Leber congenital amaurosis 8 |
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Synonyms: | LCA8 |
Definition: | A Leber congenital amaurosis that is characterized by night blindness and thick unlaminated retinas and has_material_basis_in mutation in the CRB1 gene on chromosome 1q31-q32. |
Ontology: | Human Disease [DOID:0110079] ( DOID:0110079 ) |