has material basis in germline mutation in AIPL1 Leber congenital amaurosis 4 https://github.com/monarch-initiative/mondo/issues/4521 https://rarediseases.info.nih.gov/diseases/9662/leber-congenital-amaurosis-4 https://www.malacards.org/card/leber_congenital_amaurosis_4 LCA4 OMIM:604393 retinitis pigmentosa, juvenile, Aipl1-related DOID:0110332 AIPL1 Leber congenital amaurosis Leber congenital amaurosis type 4 Leber congenital amaurosis caused by mutation in AIPL1 amaurosis congenita of Leber, type 4 cone-rod dystrophy MESH:C565778 cone-rod dystrophy, Aipl1-related Leber congenital amaurosis 4 MEDGEN:346808 GARD:0009662 UMLS:C1858386 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the AIPL1 gene. MONDO:0011458 retinitis pigmentosa, juvenile cone-rod dystrophy Leber congenital amaurosis AIPL1-related retinopathy