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 10 ID (Ontology) DOID:0110291 (Human Disease)
Definition A Leber congenital amaurosis that is characterized by severe infantile-onset cone-rod dystrophy with high hyperopia and severe ERG abnormalities and has_material_basis_in mutation in the CEP290 gene on chromosome 12q21.32.
Also Known As "LCA10"
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 Genes
 Leber congenital amaurosis 10       1
 for disease ribbon | Leber congenital amaurosis 10       1
 model of | Leber congenital amaurosis 10       1
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physical disorder
 |__Leber congenital amaurosis__
retinal disease                 |
 |__Leber congenital amaurosis__|
genetic disease                 |
 |__monogenic disease___________|
                                Leber congenital amaurosis 10  1 rec.
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Is a monogenic disease
Leber congenital amaurosis
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Synonyms
  • "LCA10" EXACT OMO:0003012
Secondary IDs
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ICD10CM:H35.5
MESH:C565720
MIM:611755