FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Leber congenital amaurosis 4 ID (Ontology) DOID:0110332 (Human Disease)
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.
Also Known As "LCA4"
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 Genes
 Leber congenital amaurosis 4       1
 for disease ribbon | Leber congenital amaurosis 4       1
 model of | Leber congenital amaurosis 4       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
physical disorder                |
 |__Leber congenital amaurosis___|
retinal disease                  |
 |__Leber congenital amaurosis___|
                                 Leber congenital amaurosis 4  1 rec.
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Is a autosomal recessive disease
Leber congenital amaurosis
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Synonyms
  • "LCA4" EXACT OMO:0003012
Secondary IDs
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ICD10CM:H35.5
MESH:C565778
MIM:604393