FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term cone-rod dystrophy 22 ID (Ontology) DOID:0081448 (Human Disease)
Definition A cone-rod dystrophy that is characterized by loss of central vision due to cone photoreceptor degeneration, with onset of symptoms ranging from the first to fifth decades of life and that has_material_basis_in homozygous mutation in the TLCD3B gene on chromosome 16p11.
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 Genes
 cone-rod dystrophy 22       1
 for disease ribbon | cone-rod dystrophy 22       1
 model of | cone-rod dystrophy 22       1
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monogenic disease
 |__cone-rod dystrophy___________
autosomal genetic disease        |
 |__autosomal recessive disease__|
retinal degeneration             |
 |__cone-rod dystrophy___________|
                                 cone-rod dystrophy 22  1 rec.
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Is a cone-rod dystrophy
autosomal recessive disease
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MIM:619531