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 1 ID (Ontology) DOID:0110078 (Human Disease)
Definition A Leber congenital amaurosis characterized by severe cone-rod dystrophy with photophobia, high hyperopia, and poor but stable vision with no visual improvement and that has_material_basis_in mutation in the GUCY2D gene on chromosome 17p13.
Also Known As "amaurosis congenita of Leber I" ; "LCA1"
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 Genes
 Leber congenital amaurosis 1       3
 for disease ribbon | Leber congenital amaurosis 1       3
 model of | Leber congenital amaurosis 1       3
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 1  3 rec.
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Is a autosomal recessive disease
Leber congenital amaurosis
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Synonyms
  • "amaurosis congenita of Leber I" EXACT
    "LCA1" EXACT OMO:0003012
Secondary IDs
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ICD10CM:H35.5
MIM:204000